A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Actual loss of portion of a chromosome.
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Mapping of the KARYOTYPE of a cell.
DNA present in neoplastic tissue.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Any method used for determining the location of and relative distances between genes on a chromosome.
The systematic study of the complete DNA sequences (GENOME) of organisms.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
The genetic complement of a BACTERIA as represented in its DNA.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
An aberration in which an extra chromosome or a chromosomal segment is made.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The relationships of groups of organisms as reflected by their genetic makeup.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The simultaneous analysis, on a microchip, of multiple samples or targets arranged in an array format.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Genotypic differences observed among individuals in a population.
A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Minute cells produced during development of an OOCYTE as it undergoes MEIOSIS. A polar body contains one of the nuclei derived from the first or second meiotic CELL DIVISION. Polar bodies have practically no CYTOPLASM. They are eventually discarded by the oocyte. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The infiltrating of tissue specimens with paraffin, as a supporting substance, to prepare for sectioning with a microtome.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
Low-copy (2-50) repetitive DNA elements that are highly homologous and range in size from 1000 to 400,000 base pairs.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
Distinct units in some bacterial, bacteriophage or plasmid GENOMES that are types of MOBILE GENETIC ELEMENTS. Encoded in them are a variety of fitness conferring genes, such as VIRULENCE FACTORS (in "pathogenicity islands or islets"), ANTIBIOTIC RESISTANCE genes, or genes required for SYMBIOSIS (in "symbiosis islands or islets"). They range in size from 10 - 500 kilobases, and their GC CONTENT and CODON usage differ from the rest of the genome. They typically contain an INTEGRASE gene, although in some cases this gene has been deleted resulting in "anchored genomic islands".
Laboratory techniques that involve the in-vitro synthesis of many copies of DNA or RNA from one original template.
Genes whose abnormal expression, or MUTATION are associated with the development, growth, or progression of NEOPLASMS.
Deletion of sequences of nucleic acids from the genetic material of an individual.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Determination of the nature of a pathological condition or disease in the OVUM; ZYGOTE; or BLASTOCYST prior to implantation. CYTOGENETIC ANALYSIS is performed to determine the presence or absence of genetic disease.
The degree of replication of the chromosome set in the karyotype.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Tumors or cancer of the human BREAST.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A benign, non-neoplastic, usually self-limiting epithelial lesion closely resembling squamous cell carcinoma clinically and histopathologically. It occurs in solitary, multiple, and eruptive forms. The solitary and multiple forms occur on sunlight exposed areas and are identical histologically; they affect primarily white males. The eruptive form usually involves both sexes and appears as a generalized papular eruption.
A variation from the normal set of chromosomes characteristic of a species.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
A cell line derived from cultured tumor cells.
DNA constructs that are derived from the DNA of BACTERIOPHAGE P1. They can carry large amounts (about 100-300 kilobases) of other sequence for a variety of bioengineering purposes.
Aberrant chromosomes with no ends, i.e., circular.
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A species of the genus BRUCELLA which are pathogenic to SHEEP.
The performance of dissections with the aid of a microscope.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
A highly reactive aldehyde gas formed by oxidation or incomplete combustion of hydrocarbons. In solution, it has a wide range of uses: in the manufacture of resins and textiles, as a disinfectant, and as a laboratory fixative or preservative. Formaldehyde solution (formalin) is considered a hazardous compound, and its vapor toxic. (From Reynolds, Martindale The Extra Pharmacopoeia, 30th ed, p717)
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Agents employed in the preparation of histologic or pathologic specimens for the purpose of maintaining the existing form and structure of all of the constituent elements. Great numbers of different agents are used; some are also decalcifying and hardening agents. They must quickly kill and coagulate living tissue.
A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Biochemical identification of mutational changes in a nucleotide sequence.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.
A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.
A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
The possession of a third chromosome of any one type in an otherwise diploid cell.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)
Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed)
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
A lesion with cytological characteristics associated with invasive carcinoma but the tumor cells are confined to the epithelium of origin, without invasion of the basement membrane.
Genes whose gain-of-function alterations lead to NEOPLASTIC CELL TRANSFORMATION. They include, for example, genes for activators or stimulators of CELL PROLIFERATION such as growth factors, growth factor receptors, protein kinases, signal transducers, nuclear phosphoproteins, and transcription factors. A prefix of "v-" before oncogene symbols indicates oncogenes captured and transmitted by RETROVIRUSES; the prefix "c-" before the gene symbol of an oncogene indicates it is the cellular homolog (PROTO-ONCOGENES) of a v-oncogene.
Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
A characteristic symptom complex.
Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9)
Sequential operating programs and data which instruct the functioning of a digital computer.
Tumors or cancer of the UVEA.
The functional hereditary units of BACTERIA.
Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the probe include the radioisotope labels 32P and 125I and the chemical label biotin.
A malignant epithelial tumor with a glandular organization.
Databases devoted to knowledge about specific genes and gene products.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Tumors or cancer of the SKIN.
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
The GENETIC RECOMBINATION of the parts of two or more GENES resulting in a gene with different or additional regulatory regions, or a new chimeric gene product. ONCOGENE FUSION includes an ONCOGENE as at least one of the fusion partners and such gene fusions are often detected in neoplastic cells and are transcribed into ONCOGENE FUSION PROTEINS. ARTIFICIAL GENE FUSION is carried out in vitro by RECOMBINANT DNA technology.
Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
An invasive (infiltrating) CARCINOMA of the mammary ductal system (MAMMARY GLANDS) in the human BREAST.
Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)
Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.
The sequential location of genes on a chromosome.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).
A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)
Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A sarcoma of the deep layers of the skin. The tumors are locally aggressive tends to recur but rarely metastatic. It can be classified into variants depending on the cell type tumors are derived from or by its characteristics: Pigmented variant from MELANIN-containing DERMAL DENDRITIC CELLS; Myxoid variant, myxoid STROMAL CELLS; Giant cell variant characterized by GIANT CELLS in the tumors; and Fibrosarcomatous variant chracterized by tumor areas histologically indistinguishable from FIBROSARCOMA.
Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including hormones, antigens, amino and nucleic acids, enzymes, polyamines, and specific cell membrane proteins and lipids.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Neoplasms associated with a proliferation of a single clone of PLASMA CELLS and characterized by the secretion of PARAPROTEINS.
Tumors or cancer of the LIVER.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.
Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)
A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
An individual in which both alleles at a given locus are identical.
The simultaneous analysis of multiple samples of TISSUES or CELLS from BIOPSY or in vitro culture that have been arranged in an array format on slides or microchips.
A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.
The presence of two or more genetic loci on the same chromosome. Extensions of this original definition refer to the similarity in content and organization between chromosomes, of different species for example.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
The technique of using FIXATIVES in the preparation of cytologic, histologic, or pathologic specimens for the purpose of maintaining the existing form and structure of all the constituent elements.
A benign epithelial tumor with a glandular organization.
Thinly cut sections of frozen tissue specimens prepared with a cryostat or freezing microtome.
Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and BRAIN STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.
A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)
Tumors or cancer of the LUNG.
A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed)
Subtype of CLOSTRIDIUM BOTULINUM that produces botulinum toxin type B which is neurotoxic to humans and animals.
Tumors or cancer of the URINARY BLADDER.
Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion, such as the carotid body, or medulla of the adrenal gland (usually called a chromaffinoma or pheochromocytoma). It is more common in women than in men. (Stedman, 25th ed; from Segen, Dictionary of Modern Medicine, 1992)
Family of retrovirus-associated DNA sequences (myc) originally isolated from an avian myelocytomatosis virus. The proto-oncogene myc (c-myc) codes for a nuclear protein which is involved in nucleic acid metabolism and in mediating the cellular response to growth factors. Truncation of the first exon, which appears to regulate c-myc expression, is crucial for tumorigenicity. The human c-myc gene is located at 8q24 on the long arm of chromosome 8.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
Two identical genes showing the same phenotypic action but localized in different regions of a chromosome or on different chromosomes. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.
Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)
A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)

Carotenoid biosynthesis in cyanobacteria: structural and evolutionary scenarios based on comparative genomics. (1/1533)

Carotenoids are widely distributed pigments in nature and their biosynthetic pathway has been extensively studied in various organisms. The recent access to the overwhelming amount genomic data of cyanobacteria has given birth to a novel approach called comparative genomics. The putative enzymes involved in the carotenoid biosynthesis among the cyanobacteria were determined by similarity-based tools. The reconstruction of biosynthetic pathway was based on the related enzymes. It is interesting to find that nearly all the cyanobacteria share quite similar pathway to synthesize beta-carotene except for Gloeobacter violaceus PCC 7421. The enzymes, crtE-B-P-Qb-L, involved in the upstream pathway are more conserved than the subsequent ones (crtW-R). In addition, many carotenoid synthesis enzymes exhibit diversity in structure and function. Such examples in the families of zeta -carotene desaturase, lycopene cylases and carotene ketolases were described in this article. When we mapped these crt genes to the cyanobacterial genomes, the crt genes showed great structural variation among species. All of them are dispersed on the whole chromosome in contrast to the linear adjacent distribution of the crt gene cluster in other eubacteria. Moreover, in unicellular cyanobacteria, each step of the carotenogenic pathway is usually catalyzed by one gene product, whereas multiple ketolase genes are found in filamentous cyanobacteria. Such increased numbers of crt genes and their correlation to the ecological adaptation were carefully discussed.  (+info)

A family of human microRNA genes from miniature inverted-repeat transposable elements. (2/1533)

While hundreds of novel microRNA (miRNA) genes have been discovered in the last few years alone, the origin and evolution of these non-coding regulatory sequences remain largely obscure. In this report, we demonstrate that members of a recently discovered family of human miRNA genes, hsa-mir-548, are derived from Made1 transposable elements. Made1 elements are short miniature inverted-repeat transposable elements (MITEs), which consist of two 37 base pair (bp) terminal inverted repeats that flank 6 bp of internal sequence. Thus, Made1 elements are nearly perfect palindromes, and when expressed as RNA they form highly stable hairpin loops. Apparently, these Made1-related structures are recognized by the RNA interference enzymatic machinery and processed to form 22 bp mature miRNA sequences. Consistent with their origin from MITEs, hsa-mir-548 genes are primate-specific and have many potential paralogs in the human genome. There are more than 3,500 putative hsa-mir-548 target genes; analysis of their expression profiles and functional affinities suggests cancer-related regulatory roles for hsa-mir-548. Taken together, the characteristics of Made1 elements, and MITEs in general, point to a specific mechanism for the generation of numerous small regulatory RNAs and target sites throughout the genome. The evolutionary lineage-specific nature of MITEs could also provide for the generation of novel regulatory phenotypes related to species diversification. Finally, we propose that MITEs may represent an evolutionary link between siRNAs and miRNAs.  (+info)

Evidence for active maintenance of inverted repeat structures identified by a comparative genomic approach. (3/1533)

Inverted repeats have been found to occur in both prokaryotic and eukaryotic genomes. Usually they are short and some have important functions in various biological processes. However, long inverted repeats are rare and can cause genome instability. Analyses of C. elegans genome identified long, nearly-perfect inverted repeat sequences involving both divergently and convergently oriented homologous gene pairs and complete intergenic sequences. Comparisons with the orthologous regions from the genomes of C. briggsae and C. remanei show that the inverted repeat structures are often far more conserved than the sequences. This observation implies that there is an active mechanism for maintaining the inverted repeat nature of the sequences.  (+info)

Large-scale comparative genomic ranking of taxonomically restricted genes (TRGs) in bacterial and archaeal genomes. (4/1533)

BACKGROUND: Lineage-specific, or taxonomically restricted genes (TRGs), especially those that are species and strain-specific, are of special interest because they are expected to play a role in defining exclusive ecological adaptations to particular niches. Despite this, they are relatively poorly studied and little understood, in large part because many are still orphans or only have homologues in very closely related isolates. This lack of homology confounds attempts to establish the likelihood that a hypothetical gene is expressed and, if so, to determine the putative function of the protein. METHODOLOGY/PRINCIPAL FINDINGS: We have developed "QIPP" ("Quality Index for Predicted Proteins"), an index that scores the "quality" of a protein based on non-homology-based criteria. QIPP can be used to assign a value between zero and one to any protein based on comparing its features to other proteins in a given genome. We have used QIPP to rank the predicted proteins in the proteomes of Bacteria and Archaea. This ranking reveals that there is a large amount of variation in QIPP scores, and identifies many high-scoring orphans as potentially "authentic" (expressed) orphans. There are significant differences in the distributions of QIPP scores between orphan and non-orphan genes for many genomes and a trend for less well-conserved genes to have lower QIPP scores. CONCLUSIONS: The implication of this work is that QIPP scores can be used to further annotate predicted proteins with information that is independent of homology. Such information can be used to prioritize candidates for further analysis. Data generated for this study can be found in the OrphanMine at http://www.genomics.ceh.ac.uk/orphan_mine.  (+info)

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. (5/1533)

BACKGROUND: Array Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and pathogenesis. We report our experience with the clinical implementation of this high resolution human genome analysis, referred to as Chromosomal Microarray Analysis (CMA). METHODS AND FINDINGS: CMA was performed clinically on 2513 postnatal samples from patients referred with a variety of clinical phenotypes. The initial 775 samples were studied using CMA array version 4 and the remaining 1738 samples were analyzed with CMA version 5 containing expanded genomic coverage. Overall, CMA identified clinically relevant genomic imbalances in 8.5% of patients: 7.6% using V4 and 8.9% using V5. Among 117 cases referred for additional investigation of a known cytogenetically detectable rearrangement, CMA identified the majority (92.5%) of the genomic imbalances. Importantly, abnormal CMA findings were observed in 5.2% of patients (98/1872) with normal karyotypes/FISH results, and V5, with expanded genomic coverage, enabled a higher detection rate in this category than V4. For cases without cytogenetic results available, 8.0% (42/524) abnormal CMA results were detected; again, V5 demonstrated an increased ability to detect abnormality. Improved diagnostic potential of CMA is illustrated by 90 cases identified with 51 cryptic microdeletions and 39 predicted apparent reciprocal microduplications in 13 specific chromosomal regions associated with 11 known genomic disorders. In addition, CMA identified copy number variations (CNVs) of uncertain significance in 262 probands; however, parental studies usually facilitated clinical interpretation. Of these, 217 were interpreted as familial variants and 11 were determined to be de novo; the remaining 34 await parental studies to resolve the clinical significance. CONCLUSIONS: This large set of clinical results demonstrates the significantly improved sensitivity of CMA for the detection of clinically relevant genomic imbalances and highlights the need for comprehensive genetic counseling to facilitate accurate clinical correlation and interpretation.  (+info)

Epigenetic natural variation in Arabidopsis thaliana. (6/1533)

Cytosine methylation of repetitive sequences is widespread in plant genomes, occurring in both symmetric (CpG and CpNpG) as well as asymmetric sequence contexts. We used the methylation-dependent restriction enzyme McrBC to profile methylated DNA using tiling microarrays of Arabidopsis Chromosome 4 in two distinct ecotypes, Columbia and Landsberg erecta. We also used comparative genome hybridization to profile copy number polymorphisms. Repeated sequences and transposable elements (TEs), especially long terminal repeat retrotransposons, are densely methylated, but one third of genes also have low but detectable methylation in their transcribed regions. While TEs are almost always methylated, genic methylation is highly polymorphic, with half of all methylated genes being methylated in only one of the two ecotypes. A survey of loci in 96 Arabidopsis accessions revealed a similar degree of methylation polymorphism. Within-gene methylation is heritable, but is lost at a high frequency in segregating F(2) families. Promoter methylation is rare, and gene expression is not generally affected by differences in DNA methylation. Small interfering RNA are preferentially associated with methylated TEs, but not with methylated genes, indicating that most genic methylation is not guided by small interfering RNA. This may account for the instability of gene methylation, if occasional failure of maintenance methylation cannot be restored by other means.  (+info)

ADaCGH: A parallelized web-based application and R package for the analysis of aCGH data. (7/1533)

BACKGROUND: Copy number alterations (CNAs) in genomic DNA have been associated with complex human diseases, including cancer. One of the most common techniques to detect CNAs is array-based comparative genomic hybridization (aCGH). The availability of aCGH platforms and the need for identification of CNAs has resulted in a wealth of methodological studies. METHODOLOGY/PRINCIPAL FINDINGS: ADaCGH is an R package and a web-based application for the analysis of aCGH data. It implements eight methods for detection of CNAs, gains and losses of genomic DNA, including all of the best performing ones from two recent reviews (CBS, GLAD, CGHseg, HMM). For improved speed, we use parallel computing (via MPI). Additional information (GO terms, PubMed citations, KEGG and Reactome pathways) is available for individual genes, and for sets of genes with altered copy numbers. CONCLUSIONS/SIGNIFICANCE: ADACGH represents a qualitative increase in the standards of these types of applications: a) all of the best performing algorithms are included, not just one or two; b) we do not limit ourselves to providing a thin layer of CGI on top of existing BioConductor packages, but instead carefully use parallelization, examining different schemes, and are able to achieve significant decreases in user waiting time (factors up to 45x); c) we have added functionality not currently available in some methods, to adapt to recent recommendations (e.g., merging of segmentation results in wavelet-based and CGHseg algorithms); d) we incorporate redundancy, fault-tolerance and checkpointing, which are unique among web-based, parallelized applications; e) all of the code is available under open source licenses, allowing to build upon, copy, and adapt our code for other software projects.  (+info)

Detection of novel amplicons in prostate cancer by comprehensive genomic profiling of prostate cancer cell lines using oligonucleotide-based arrayCGH. (8/1533)

BACKGROUND: The purpose of this study was to prove the feasibility of a longmer oligonucleotide microarray platform to profile gene copy number alterations in prostate cancer cell lines and to quickly indicate novel candidate genes, which may play a role in carcinogenesis. METHODS/RESULTS AND FINDINGS: Genome-wide screening for regions of genetic gains and losses on nine prostate cancer cell lines (PC3, DU145, LNCaP, CWR22, and derived sublines) was carried out using comparative genomic hybridization on a 35,000 feature oligonucleotide microarray (arrayCGH). Compared to conventional chromosomal CGH, more deletions and small regions of gains, particularly in pericentromeric regions and regions next to the telomeres, were detected. As validation of the high-resolution of arrayCGH we further analyzed a small amplicon of 1.7 MB at 9p13.3, which was found in CWR22 and CWR22-Rv1. Increased copy number was confirmed by fluorescence in situ hybridization using the BAC clone RP11-165H19 from the amplified region comprising the two genes interleukin 11 receptor alpha (IL11-RA) and dynactin 3 (DCTN3). Using quantitative real time PCR (qPCR) we could demonstrate that IL11-RA is the gene with the highest copy number gain in the cell lines compared to DCTN3 suggesting IL11-RA to be the amplification target. Screening of 20 primary prostate carcinomas by qPCR revealed an IL11-RA copy number gain in 75% of the tumors analyzed. Gain of DCTN3 was only found in two cases together with a gain of IL11-RA. CONCLUSIONS/SIGNIFICANCE: ArrayCGH using longmer oligonucleotide microarrays is feasible for high-resolution analysis of chomosomal imbalances. Characterization of a small gained region at 9p13.3 in prostate cancer cell lines and primary prostate cancer samples by fluorescence in situ hybridization and quantitative PCR has revealed interleukin 11 receptor alpha gene as a candidate target of amplification with an amplification frequency of 75% in prostate carcinomas. Frequent amplification of IL11-RA in prostate cancer is a potential mechanism of IL11-RA overexpression in this tumor type.  (+info)

There are several types of chromosome aberrations, including:

1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.

Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.

Chromosome aberrations are associated with a wide range of diseases, including:

1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.

Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.

Some common effects of chromosomal deletions include:

1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.

Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.

There are several types of aneuploidy, including:

1. Trisomy: This is the presence of an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21 (trisomy 21).
2. Monosomy: This is the absence of a chromosome.
3. Mosaicism: This is the presence of both normal and abnormal cells in the body.
4. Uniparental disomy: This is the presence of two copies of a chromosome from one parent, rather than one copy each from both parents.

Aneuploidy can occur due to various factors such as errors during cell division, exposure to certain chemicals or radiation, or inheritance of an abnormal number of chromosomes from one's parents. The risk of aneuploidy increases with age, especially for women over the age of 35, as their eggs are more prone to errors during meiosis (the process by which egg cells are produced).

Aneuploidy can be diagnosed through various methods such as karyotyping (examining chromosomes under a microscope), fluorescence in situ hybridization (FISH) or quantitative PCR. Treatment for aneuploidy depends on the underlying cause and the specific health problems it has caused. In some cases, treatment may involve managing symptoms, while in others, it may involve correcting the genetic abnormality itself.

In summary, aneuploidy is a condition where there is an abnormal number of chromosomes present in a cell, which can lead to various developmental and health problems. It can occur due to various factors and can be diagnosed through different methods. Treatment depends on the underlying cause and the specific health problems it has caused.

There are many different types of chromosome disorders, including:

1. Trisomy: This is a condition in which there is an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21.
2. Monosomy: This is a condition in which there is a missing copy of a chromosome.
3. Turner syndrome: This is a condition in which there is only one X chromosome instead of two.
4. Klinefelter syndrome: This is a condition in which there are three X chromosomes instead of the typical two.
5. Chromosomal translocations: These are abnormalities in which a piece of one chromosome breaks off and attaches to another chromosome.
6. Inversions: These are abnormalities in which a segment of a chromosome is reversed end-to-end.
7. Deletions: These are abnormalities in which a portion of a chromosome is missing.
8. Duplications: These are abnormalities in which there is an extra copy of a segment of a chromosome.

Chromosome disorders can have a wide range of effects on the body, depending on the type and severity of the condition. Some common features of chromosome disorders include developmental delays, intellectual disability, growth problems, and physical abnormalities such as heart defects or facial anomalies.

There is no cure for chromosome disorders, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with these conditions. Treatment may include medications, therapies, and surgery, as well as support and resources for families and caregivers.

Preventive measures for chromosome disorders are not currently available, but research is ongoing to understand the causes of these conditions and to develop new treatments and interventions. Early detection and diagnosis can help identify chromosome disorders and provide appropriate support and resources for individuals and families.

In conclusion, chromosome disorders are a group of genetic conditions that affect the structure or number of chromosomes in an individual's cells. These conditions can have a wide range of effects on the body, and there is no cure, but treatment and support are available to help manage symptoms and improve quality of life. Early detection and diagnosis are important for identifying chromosome disorders and providing appropriate support and resources for individuals and families.

There are various causes of intellectual disability, including:

1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.

Intellectual disability can result in a range of cognitive and functional impairments, including:

1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.

There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:

1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.

It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

The symptoms of chromosome duplication vary depending on the location and number of extra chromosomes present. Some common symptoms include:

* Delayed development and growth
* Intellectual disability
* Speech and language delays
* Physical abnormalities, such as heart defects or facial dysmorphism
* Increased risk of developing certain health problems, such as autism or epilepsy

Chromosome duplication can be diagnosed through a blood test or by analyzing cells from the body. Treatment is based on the specific symptoms and may include speech therapy, physical therapy, medication, or surgery.

Prognosis for individuals with chromosome duplication varies depending on the location and number of extra chromosomes present, as well as the presence of any other genetic conditions. Some individuals with chromosome duplication may have a good prognosis and lead normal lives, while others may experience significant health problems and developmental delays.

In some cases, chromosome duplication can be inherited from one or both parents, who may be carriers of the condition but do not exhibit any symptoms themselves. In other cases, chromosome duplication can occur spontaneously due to a mistake during cell division.

There is currently no cure for chromosome duplication, but early diagnosis and appropriate interventions can help manage symptoms and improve outcomes for affected individuals.

Some examples of multiple abnormalities include:

1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.

The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.

When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.

There are several types of chromosome breakage, including:

1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.

Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.

In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.

Causes of Chromosomal Instability:

1. Genetic mutations: Mutations in genes that regulate the cell cycle or chromosome segregation can lead to CIN.
2. Environmental factors: Exposure to certain environmental agents such as radiation and certain chemicals can increase the risk of developing CIN.
3. Errors during DNA replication: Mistakes during DNA replication can also lead to CIN.

Types of Chromosomal Instability:

1. Aneuploidy: Cells with an abnormal number of chromosomes, either more or fewer than the normal diploid number (46 in humans).
2. Structural changes: Deletions, duplications, inversions, translocations, and other structural changes can occur in the chromosomes.
3. Unstable chromosome structures: Chromosomes with abnormal shapes or structures, such as telomere shortening, centromere instability, or chromosome breaks, can also lead to CIN.

Effects of Chromosomal Instability:

1. Cancer: CIN can increase the risk of developing cancer by disrupting normal cellular processes and leading to genetic mutations.
2. Aging: CIN can contribute to aging by shortening telomeres, which are the protective caps at the ends of chromosomes that help maintain their stability.
3. Neurodegenerative diseases: CIN has been implicated in the development of certain neurodegenerative diseases such as Alzheimer's and Parkinson's.
4. Infertility: CIN can lead to infertility by disrupting normal meiotic recombination and chromosome segregation during gametogenesis.

Detection and Diagnosis of Chromosomal Instability:

1. Karyotyping: This is a technique used to visualize the entire set of chromosomes in a cell. It can help identify structural abnormalities such as deletions, duplications, or translocations.
2. Fluorescence in situ hybridization (FISH): This technique uses fluorescent probes to detect specific DNA sequences or proteins on chromosomes. It can help identify changes in chromosome structure or number.
3. Array comparative genomic hybridization (aCGH): This technique compares the genetic material of a sample to a reference genome to identify copy number changes.
4. Next-generation sequencing (NGS): This technique can identify point mutations and other genetic changes in DNA.

Treatment and Management of Chromosomal Instability:

1. Cancer treatment: Depending on the type and stage of cancer, treatments such as chemotherapy, radiation therapy, or surgery may be used to eliminate cancer cells with CIN.
2. Prenatal testing: Pregnant women with a family history of CIN can undergo prenatal testing to detect chromosomal abnormalities in their fetuses.
3. Genetic counseling: Individuals with a family history of CIN can consult with a genetic counselor to discuss risk factors and potential testing options.
4. Lifestyle modifications: Making healthy lifestyle choices such as maintaining a balanced diet, exercising regularly, and not smoking can help reduce the risk of developing cancer and other diseases associated with CIN.

In conclusion, chromosomal instability is a common feature of many human diseases, including cancer, and can be caused by a variety of factors. The diagnosis and management of CIN require a multidisciplinary approach that includes cytogenetic analysis, molecular diagnostics, and clinical evaluation. Understanding the causes and consequences of CIN is crucial for developing effective therapies and improving patient outcomes.

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A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Definition & Facts | Britannica
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Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.

Translocation, Genetic | health Encyclopedia - UPMC
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A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Genetics Home Reference - NIH
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A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.

There are different types of Breast Neoplasms such as:

1. Fibroadenomas: These are benign tumors that are made up of glandular and fibrous tissues. They are usually small and round, with a smooth surface, and can be moved easily under the skin.

2. Cysts: These are fluid-filled sacs that can develop in both breast tissue and milk ducts. They are usually benign and can disappear on their own or be drained surgically.

3. Ductal Carcinoma In Situ (DCIS): This is a precancerous condition where abnormal cells grow inside the milk ducts. If left untreated, it can progress to invasive breast cancer.

4. Invasive Ductal Carcinoma (IDC): This is the most common type of breast cancer and starts in the milk ducts but grows out of them and invades surrounding tissue.

5. Invasive Lobular Carcinoma (ILC): It originates in the milk-producing glands (lobules) and grows out of them, invading nearby tissue.

Breast Neoplasms can cause various symptoms such as a lump or thickening in the breast or underarm area, skin changes like redness or dimpling, change in size or shape of one or both breasts, discharge from the nipple, and changes in the texture or color of the skin.

Treatment options for Breast Neoplasms may include surgery such as lumpectomy, mastectomy, or breast-conserving surgery, radiation therapy which uses high-energy beams to kill cancer cells, chemotherapy using drugs to kill cancer cells, targeted therapy which uses drugs or other substances to identify and attack cancer cells while minimizing harm to normal cells, hormone therapy, immunotherapy, and clinical trials.

It is important to note that not all Breast Neoplasms are cancerous; some are benign (non-cancerous) tumors that do not spread or grow.

Keratoacanthoma are thought to be caused by a combination of genetic and environmental factors, such as exposure to UV radiation from the sun or tanning beds. They can occur at any age, but are most common in adults over the age of 50.

While keratoacanthomas are not cancerous and do not spread to other parts of the body, they can be challenging to diagnose and treat. Biopsy is often necessary to confirm the diagnosis, and treatment options may include observation, cryotherapy (freezing), or surgical excision.

In rare cases, keratoacanthomas can evolve into a type of skin cancer called squamous cell carcinoma. Therefore, it is important for individuals with this condition to have regular follow-up appointments with their healthcare provider to monitor for any changes.

An abnormal karyotype can lead to a range of health problems, including developmental delays, intellectual disability, and an increased risk of certain diseases. Some common types of abnormal karyotypes include:

1. Trisomy: This occurs when there are three copies of a particular chromosome instead of the usual two. For example, trisomy 21 (also known as Down syndrome) is caused by an extra copy of chromosome 21.
2. Monosomy: This occurs when there is only one copy of a particular chromosome instead of the usual two.
3. Structural abnormalities: These occur when there are changes in the structure of the chromosomes, such as deletions, duplications, or translocations.
4. Mosaicism: This occurs when there is a mixture of normal and abnormal cells in the body, with the abnormal cells having an abnormal karyotype.

An abnormal karyotype can be diagnosed through a blood test or a biopsy, and treatment options will depend on the specific type of chromosomal abnormality and the severity of the symptoms. In some cases, the only option may be to manage the symptoms with medication or other supportive therapies. In other cases, surgery or other more invasive treatments may be necessary.

It is important for individuals with an abnormal karyotype to receive regular medical care and monitoring to ensure that any potential health problems are identified and addressed promptly. With appropriate treatment and support, many individuals with chromosomal abnormalities can lead fulfilling lives.

Ring chromosomes are relatively rare, occurring in about 1 in every 10,000 to 20,000 births. They can be caused by a variety of factors, including genetic mutations, errors during cell division, or exposure to certain chemicals or radiation.

Ring chromosomes can affect anyone, regardless of age or gender. However, they are more common in certain populations, such as people with a family history of the condition or those who have certain medical conditions like Down syndrome or Turner syndrome.

The symptoms of ring chromosomes can vary widely and may include:

* Delayed growth and development
* Intellectual disability or learning difficulties
* Speech and language problems
* Vision and hearing impairments
* Heart defects
* Bone and joint problems
* Increased risk of infections and other health problems

Ring chromosomes can be diagnosed through a variety of tests, including karyotyping, fluorescence in situ hybridization (FISH), and microarray analysis. Treatment for the condition typically focuses on managing any associated health problems and may include medication, surgery, or other interventions.

In some cases, ring chromosomes can be inherited from one's parents. However, many cases are not inherited and occur spontaneously due to a genetic mutation. In these cases, the risk of recurrence in future pregnancies is generally low.

Overall, ring chromosomes are a complex and relatively rare chromosomal abnormality that can have a significant impact on an individual's health and development. With proper diagnosis and treatment, many people with ring chromosomes can lead fulfilling lives, but it is important to work closely with medical professionals to manage any associated health problems.

SCC typically appears as a firm, flat, or raised bump on the skin, and may be pink, red, or scaly. The cancer cells are usually well-differentiated, meaning they resemble normal squamous cells, but they can grow rapidly and invade surrounding tissues if left untreated.

SCC is more common in fair-skinned individuals and those who spend a lot of time in the sun, as UV radiation can damage the skin cells and increase the risk of cancer. The cancer can also spread to other parts of the body, such as lymph nodes or organs, and can be life-threatening if not treated promptly and effectively.

Treatment for SCC usually involves surgery to remove the cancerous tissue, and may also include radiation therapy or chemotherapy to kill any remaining cancer cells. Early detection and treatment are important to improve outcomes for patients with SCC.

The exact cause of leiomyosarcoma is not known, but it is believed to be linked to genetic mutations that occur in the smooth muscle cells. It can occur at any age, but it is more common in women, especially after menopause.

Symptoms of leiomyosarcoma may include:

* Abnormal bleeding or discharge from the uterus or cervix
* Pelvic pain or discomfort
* A mass or lump in the abdomen or pelvis
* Weakness, fatigue, or fever

If leiomyosarcoma is suspected, a healthcare provider may perform a variety of tests to confirm the diagnosis, including:

* Pelvic examination and imaging tests, such as ultrasound, computed tomography (CT) scan, or magnetic resonance imaging (MRI) to visualize the tumor.
* Biopsy, where a sample of tissue is removed from the suspected tumor and examined under a microscope for cancer cells.

Treatment options for leiomyosarcoma depend on the location, size, and stage of the cancer, as well as the patient's age and overall health. Surgery is often the primary treatment, and may involve removing the uterus, cervix, or other affected organs. Radiation therapy and chemotherapy may also be used to kill any remaining cancer cells.

Overall, leiomyosarcoma is a rare and aggressive form of cancer that requires prompt medical attention if symptoms persist or worsen over time. With proper treatment, many people with leiomyosarcoma can achieve long-term survival and a good quality of life.

Trisomy is caused by an extra copy of a chromosome, which can be due to one of three mechanisms:

1. Trisomy 21 (Down syndrome): This is the most common type of trisomy and occurs when there is an extra copy of chromosome 21. It is estimated to occur in about 1 in every 700 births.
2. Trisomy 13 (Patau syndrome): This type of trisomy occurs when there is an extra copy of chromosome 13. It is estimated to occur in about 1 in every 10,000 births.
3. Trisomy 18 (Edwards syndrome): This type of trisomy occurs when there is an extra copy of chromosome 18. It is estimated to occur in about 1 in every 2,500 births.

The symptoms of trisomy can vary depending on the type of trisomy and the severity of the condition. Some common symptoms include:

* Delayed physical growth and development
* Intellectual disability
* Distinctive facial features, such as a flat nose, small ears, and a wide, short face
* Heart defects
* Vision and hearing problems
* GI issues
* Increased risk of infection

Trisomy can be diagnosed before birth through prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis. After birth, it can be diagnosed through a blood test or by analyzing the child's DNA.

There is no cure for trisomy, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition. This may include physical therapy, speech therapy, occupational therapy, and medication to manage heart defects or other medical issues. In some cases, surgery may be necessary to correct physical abnormalities.

The prognosis for trisomy varies depending on the type of trisomy and the severity of the condition. Some forms of trisomy are more severe and can be life-threatening, while others may have a more mild impact on the individual's quality of life. With appropriate medical care and support, many individuals with trisomy can lead fulfilling lives.

In summary, trisomy is a genetic condition that occurs when there is an extra copy of a chromosome. It can cause a range of symptoms and can be diagnosed before or after birth. While there is no cure for trisomy, treatment and support are available to help manage the symptoms and improve the quality of life for individuals with the condition.

DLBCL is characterized by the rapid growth of malignant B cells in the lymph nodes, spleen, bone marrow, and other organs. These cells can also spread to other parts of the body through the bloodstream or lymphatic system. The disease is often aggressive and can progress quickly without treatment.

The symptoms of DLBCL vary depending on the location and extent of the disease, but they may include:

* Swollen lymph nodes in the neck, underarm, or groin
* Fever
* Fatigue
* Night sweats
* Weight loss
* Abdominal pain or discomfort
* Itching

The diagnosis of DLBCL is based on a combination of physical examination findings, imaging studies (such as CT scans or PET scans), and biopsy results. Treatment typically involves a combination of chemotherapy, radiation therapy, and in some cases, immunotherapy or targeted therapy. The prognosis for DLBCL has improved significantly over the past few decades, with overall survival rates ranging from 60% to 80%, depending on the stage and other factors.

Here are some examples of how the term "facies" may be used in a medical context:

1. Facial asymmetry: A patient with facial asymmetry may have one side of their face that is noticeably different from the other, either due to a birth defect or as a result of trauma or surgery.
2. Facial dysmorphia: This is a condition in which a person has a distorted perception of their own facial appearance, leading them to seek repeated cosmetic procedures or to feel self-conscious about their face.
3. Facies of a particular syndrome: Certain medical conditions, such as Down syndrome or Turner syndrome, can have distinctive facial features that are used to help diagnose the condition.
4. Facial trauma: A patient who has suffered an injury to their face may have a facies that is disrupted or misshapen as a result of the trauma.
5. Facial aging: As people age, their facial features can change in predictable ways, such as sagging of the skin, deepening of wrinkles, and loss of fat volume. A doctor might use the term "facies" to describe these changes and plan appropriate treatments, such as a facelift or dermal fillers.

In general, the term "facies" is used by healthcare professionals to describe any aspect of a patient's facial appearance that may be relevant to their diagnosis or treatment. It is a useful way to communicate information about a patient's face in a precise and objective manner.

The tumor usually appears as a firm, raised nodule that may be tan, pink, or skin-colored. It may be accompanied by a small amount of hair growth. The edges of the tumor are usually well-defined and the surface is smooth.

Histiocytoma, benign fibrous is also known as "histiocyte-rich cutaneous lesion" or "benign fibrous histiocytoma." It is generally not cancerous and does not spread to other parts of the body. Treatment usually involves surgical removal of the tumor.

The exact cause of histiocytoma, benign fibrous is not known, but it may be associated with genetic mutations or exposure to certain environmental factors. The condition is relatively rare and affects mostly children and young adults.

Also known as CIS.

Developmental disabilities can include a wide range of diagnoses, such as:

1. Autism Spectrum Disorder (ASD): A neurological disorder characterized by difficulties with social interaction, communication, and repetitive behaviors.
2. Intellectual Disability (ID): A condition in which an individual's cognitive abilities are below average, affecting their ability to learn, reason, and communicate.
3. Down Syndrome: A genetic disorder caused by an extra copy of chromosome 21, characterized by intellectual disability, delayed speech and language development, and a distinctive physical appearance.
4. Cerebral Palsy (CP): A group of disorders that affect movement, balance, and posture, often resulting from brain injury or abnormal development during fetal development or early childhood.
5. Attention Deficit Hyperactivity Disorder (ADHD): A neurodevelopmental disorder characterized by symptoms of inattention, hyperactivity, and impulsivity.
6. Learning Disabilities: Conditions that affect an individual's ability to learn and process information, such as dyslexia, dyscalculia, and dysgraphia.
7. Traumatic Brain Injury (TBI): An injury to the brain caused by a blow or jolt to the head, often resulting in cognitive, emotional, and physical impairments.
8. Severe Hearing or Vision Loss: A condition in which an individual experiences significant loss of hearing or vision, affecting their ability to communicate and interact with their environment.
9. Multiple Disabilities: A condition in which an individual experiences two or more developmental disabilities simultaneously, such as intellectual disability and autism spectrum disorder.
10. Undiagnosed Developmental Delay (UDD): A condition in which an individual experiences delays in one or more areas of development, but does not meet the diagnostic criteria for a specific developmental disability.

These conditions can have a profound impact on an individual's quality of life, and it is important to provide appropriate support and accommodations to help them reach their full potential.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

The symptoms of an ependymoma depend on its location and size, but may include headaches, nausea, vomiting, seizures, and problems with balance and coordination. The diagnosis of an ependymoma is made through a combination of imaging tests such as CT or MRI scans, and a biopsy to confirm the presence of cancer cells.

Treatment for an ependymoma may involve surgery to remove the tumor, followed by radiation therapy and/or chemotherapy to kill any remaining cancer cells. The prognosis for this condition depends on the location and size of the tumor, as well as the age of the patient. In general, children have a better prognosis than adults, and patients with benign ependymomas have a good outlook. However, malignant ependymomas can be more difficult to treat and may have a poorer outcome.

Ependymoma accounts for about 5% of all primary brain tumors, which means they originate in the brain rather than spreading from another part of the body. They are relatively rare, making up only about 1-2% of all childhood brain tumors. However, they can occur at any age and can be a significant source of morbidity and mortality if not properly treated.

There are several subtypes of ependymoma, including:

1. Papillary ependymoma: This is the most common type of ependymoma and typically affects children. It grows slowly and is usually benign.
2. Fibrillary ependymoma: This type of ependymoma is more aggressive than papillary ependymoma and can be malignant. It is less common in children and more common in adults.
3. Anaplastic ependymoma: This is the most malignant type of ependymoma and tends to affect older adults. It grows quickly and can spread to other parts of the brain.

The symptoms of ependymoma vary depending on the location and size of the tumor. Common symptoms include headaches, seizures, nausea, vomiting, and changes in personality or cognitive function. Treatment for ependymoma usually involves a combination of surgery, radiation therapy, and chemotherapy. The prognosis for ependymoma depends on the subtype and location of the tumor, as well as the age of the patient. In general, patients with benign ependymomas have a good outlook, while those with malignant ependymomas may have a poorer outcome.

Uveal neoplasms can cause a variety of symptoms, including blurred vision, flashes of light, floaters, and eye pain. These tumors can also cause inflammation and swelling in the eye, which can lead to glaucoma or other complications.

Diagnosis of uveal neoplasms typically involves a combination of physical examination, imaging tests such as ultrasound and MRI, and biopsy. Treatment options for uveal neoplasms depend on the type and location of the tumor, as well as the severity of the disease. Surgery is often the first line of treatment for these tumors, and may involve removal of the affected tissue or the entire eye. Radiation therapy and chemotherapy may also be used in some cases.

Overall, uveal neoplasms are serious conditions that can have a significant impact on vision and eye health. Early diagnosis and treatment are key to improving outcomes for patients with these tumors.

Adenocarcinoma is a term used to describe a variety of different types of cancer that arise in glandular tissue, including:

1. Colorectal adenocarcinoma (cancer of the colon or rectum)
2. Breast adenocarcinoma (cancer of the breast)
3. Prostate adenocarcinoma (cancer of the prostate gland)
4. Pancreatic adenocarcinoma (cancer of the pancreas)
5. Lung adenocarcinoma (cancer of the lung)
6. Thyroid adenocarcinoma (cancer of the thyroid gland)
7. Skin adenocarcinoma (cancer of the skin)

The symptoms of adenocarcinoma depend on the location of the cancer and can include:

1. Blood in the stool or urine
2. Abdominal pain or discomfort
3. Changes in bowel habits
4. Unusual vaginal bleeding (in the case of endometrial adenocarcinoma)
5. A lump or thickening in the breast or elsewhere
6. Weight loss
7. Fatigue
8. Coughing up blood (in the case of lung adenocarcinoma)

The diagnosis of adenocarcinoma is typically made through a combination of imaging tests, such as CT scans, MRI scans, and PET scans, and a biopsy, which involves removing a sample of tissue from the affected area and examining it under a microscope for cancer cells.

Treatment options for adenocarcinoma depend on the location of the cancer and can include:

1. Surgery to remove the tumor
2. Chemotherapy, which involves using drugs to kill cancer cells
3. Radiation therapy, which involves using high-energy X-rays or other particles to kill cancer cells
4. Targeted therapy, which involves using drugs that target specific molecules on cancer cells to kill them
5. Immunotherapy, which involves using drugs that stimulate the immune system to fight cancer cells.

The prognosis for adenocarcinoma is generally good if the cancer is detected and treated early, but it can be more challenging to treat if the cancer has spread to other parts of the body.

There are several types of skin neoplasms, including:

1. Basal cell carcinoma (BCC): This is the most common type of skin cancer, and it usually appears as a small, fleshy bump or a flat, scaly patch. BCC is highly treatable, but if left untreated, it can grow and invade surrounding tissue.
2. Squamous cell carcinoma (SCC): This type of skin cancer is less common than BCC but more aggressive. It typically appears as a firm, flat, or raised bump on sun-exposed areas. SCC can spread to other parts of the body if left untreated.
3. Melanoma: This is the most serious type of skin cancer, accounting for only 1% of all skin neoplasms but responsible for the majority of skin cancer deaths. Melanoma can appear as a new or changing mole, and it's essential to recognize the ABCDE signs (Asymmetry, Border irregularity, Color variation, Diameter >6mm, Evolving size, shape, or color) to detect it early.
4. Sebaceous gland carcinoma: This rare type of skin cancer originates in the oil-producing glands of the skin and can appear as a firm, painless nodule on the forehead, nose, or other oily areas.
5. Merkel cell carcinoma: This is a rare and aggressive skin cancer that typically appears as a firm, shiny bump on the skin. It's more common in older adults and those with a history of sun exposure.
6. Cutaneous lymphoma: This type of cancer affects the immune system and can appear as a rash, nodules, or tumors on the skin.
7. Kaposi sarcoma: This is a rare type of skin cancer that affects people with weakened immune systems, such as those with HIV/AIDS. It typically appears as a flat, red or purple lesion on the skin.

While skin cancers are generally curable when detected early, it's important to be aware of your skin and notice any changes or unusual spots, especially if you have a history of sun exposure or other risk factors. If you suspect anything suspicious, see a dermatologist for an evaluation and potential biopsy. Remember, prevention is key to avoiding the harmful effects of UV radiation and reducing your risk of developing skin cancer.

There are several subtypes of astrocytoma, including:

1. Low-grade astrocytoma: These tumors grow slowly and are less aggressive. They can be treated with surgery, radiation therapy, or chemotherapy.
2. High-grade astrocytoma: These tumors grow more quickly and are more aggressive. They are often resistant to treatment and may recur after initial treatment.
3. Anaplastic astrocytoma: These are the most aggressive type of astrocytoma, growing rapidly and spreading to other parts of the brain.
4. Glioblastoma (GBM): This is the most common and deadliest type of primary brain cancer, accounting for 55% of all astrocytomas. It is highly aggressive and resistant to treatment, often recurring after initial surgery, radiation, and chemotherapy.

The symptoms of astrocytoma depend on the location and size of the tumor. Common symptoms include headaches, seizures, weakness or numbness in the arms or legs, and changes in personality or behavior.

Astrocytomas are diagnosed through a combination of imaging tests such as MRI or CT scans, and tissue biopsy. Treatment options vary depending on the type and location of the tumor, but may include surgery, radiation therapy, chemotherapy, or a combination of these.

The prognosis for astrocytoma varies based on the subtype and location of the tumor, as well as the patient's age and overall health. In general, low-grade astrocytomas have a better prognosis than high-grade tumors. However, even with treatment, the survival rate for astrocytoma is generally lower compared to other types of cancer.

Definition: Isochromosomes are chromosomes that have the same banding pattern and the same number of genes, but differ in size due to variations in the amount of repetitive DNA sequences.

Example: In some cases of cancer, isochromosomes may be present as a result of a chromosomal abnormality. These abnormalities can lead to changes in the expression of genes and potentially contribute to the development and progression of cancer.

Synonyms: Isochromosomes are also known as isochromosomi or isochromosomal aberrations.

Antonyms: There are no direct antonyms for isochromosomes, but related terms that refer to abnormalities in chromosome structure or number include aneuploidy, translocations, and deletions.

The exact cause of ductal carcinoma is unknown, but certain risk factors such as family history, genetics, hormone replacement therapy, obesity, and delayed childbearing have been linked to its development. Early detection through mammography and breast self-examination can improve survival rates, which are generally high for women diagnosed with this type of cancer if caught early. Treatment typically involves surgery to remove the tumor (lumpectomy or mastectomy), followed by radiation therapy and/or chemotherapy.

Disease progression can be classified into several types based on the pattern of worsening:

1. Chronic progressive disease: In this type, the disease worsens steadily over time, with a gradual increase in symptoms and decline in function. Examples include rheumatoid arthritis, osteoarthritis, and Parkinson's disease.
2. Acute progressive disease: This type of disease worsens rapidly over a short period, often followed by periods of stability. Examples include sepsis, acute myocardial infarction (heart attack), and stroke.
3. Cyclical disease: In this type, the disease follows a cycle of worsening and improvement, with periodic exacerbations and remissions. Examples include multiple sclerosis, lupus, and rheumatoid arthritis.
4. Recurrent disease: This type is characterized by episodes of worsening followed by periods of recovery. Examples include migraine headaches, asthma, and appendicitis.
5. Catastrophic disease: In this type, the disease progresses rapidly and unpredictably, with a poor prognosis. Examples include cancer, AIDS, and organ failure.

Disease progression can be influenced by various factors, including:

1. Genetics: Some diseases are inherited and may have a predetermined course of progression.
2. Lifestyle: Factors such as smoking, lack of exercise, and poor diet can contribute to disease progression.
3. Environmental factors: Exposure to toxins, allergens, and other environmental stressors can influence disease progression.
4. Medical treatment: The effectiveness of medical treatment can impact disease progression, either by slowing or halting the disease process or by causing unintended side effects.
5. Co-morbidities: The presence of multiple diseases or conditions can interact and affect each other's progression.

Understanding the type and factors influencing disease progression is essential for developing effective treatment plans and improving patient outcomes.

Symptoms: Intellectual disability, developmental delays, hearing loss, seizures, vision problems, and congenital anomalies such as a long narrow face, large ears, protruding forehead, and joint hypermobility.

Diagnosis: Diagnosed through DNA testing to identify mutations in the FMR1 gene. The diagnosis is based on clinical features and is confirmed by genetic testing.

Treatment: There is no cure for Fragile X syndrome, but early intervention and specialized educational and behavioral programs can help manage symptoms and improve outcomes. Speech and language therapy, occupational therapy, and physical therapy may also be beneficial. Medications may be used to treat seizures, hyperactivity, and anxiety.

Prognosis: The prognosis for individuals with Fragile X syndrome varies widely depending on the severity of the intellectual disability and the presence of other medical conditions. Some individuals with mild symptoms may lead relatively normal lives, while others with more severe symptoms may require lifelong supportive care.

Inheritance: Fragile X syndrome is inherited in an X-linked manner, meaning that the mutated gene is located on the X chromosome and is almost exclusively found in males who have a single copy of the mutated gene (females typically have two normal copies of the gene, one from each parent). Females can be carriers of the disorder and have a 50% chance of passing it on to their sons.

The tumor develops from immature cells in the cerebellum called granule cells, and it can grow rapidly and spread to other parts of the brain. Medulloblastoma is usually diagnosed in the early stages, and treatment typically involves surgery, chemotherapy, and radiation therapy.

There are several subtypes of medulloblastoma, including:

* Winged-helix transcription factor (WHCT) medulloblastoma
* Sonic hedgehog (SHH) medulloblastoma
* Group 3 medulloblastoma
* Group 4 medulloblastoma

Each subtype has a different genetic profile and may require different treatment approaches.

Medulloblastoma is a rare cancer, but it is the most common type of pediatric brain cancer. With current treatments, the prognosis for medulloblastoma is generally good, especially for children who are diagnosed early and receive appropriate treatment. However, the cancer can recur in some cases, and ongoing research is focused on improving treatment outcomes and finding new, less toxic therapies for this disease.

Brain neoplasms can arise from various types of cells in the brain, including glial cells (such as astrocytes and oligodendrocytes), neurons, and vascular tissues. The symptoms of brain neoplasms vary depending on their size, location, and type, but may include headaches, seizures, weakness or numbness in the limbs, and changes in personality or cognitive function.

There are several different types of brain neoplasms, including:

1. Meningiomas: These are benign tumors that arise from the meninges, the thin layers of tissue that cover the brain and spinal cord.
2. Gliomas: These are malignant tumors that arise from glial cells in the brain. The most common type of glioma is a glioblastoma, which is aggressive and hard to treat.
3. Pineal parenchymal tumors: These are rare tumors that arise in the pineal gland, a small endocrine gland in the brain.
4. Craniopharyngiomas: These are benign tumors that arise from the epithelial cells of the pituitary gland and the hypothalamus.
5. Medulloblastomas: These are malignant tumors that arise in the cerebellum, specifically in the medulla oblongata. They are most common in children.
6. Acoustic neurinomas: These are benign tumors that arise on the nerve that connects the inner ear to the brain.
7. Oligodendrogliomas: These are malignant tumors that arise from oligodendrocytes, the cells that produce the fatty substance called myelin that insulates nerve fibers.
8. Lymphomas: These are cancers of the immune system that can arise in the brain and spinal cord. The most common type of lymphoma in the CNS is primary central nervous system (CNS) lymphoma, which is usually a type of B-cell non-Hodgkin lymphoma.
9. Metastatic tumors: These are tumors that have spread to the brain from another part of the body. The most common types of metastatic tumors in the CNS are breast cancer, lung cancer, and melanoma.

These are just a few examples of the many types of brain and spinal cord tumors that can occur. Each type of tumor has its own unique characteristics, such as its location, size, growth rate, and biological behavior. These factors can help doctors determine the best course of treatment for each patient.

The exact cause of DFS is not known, but it is believed to arise from genetic mutations that occur spontaneously in the skin cells. The tumor tends to grow slowly over time, and it can infiltrate the surrounding tissue, making it difficult to remove completely with surgery alone.

There are several subtypes of DFS, including:

* Dermatofibrosarcoma protuberans (DFSP): This is the most common type of DFS, and it typically occurs on the trunk or limbs of adults.
* Deep seated dermatofibroma (DSD): This type of DFS occurs in the deep layer of the skin, and it tends to grow more slowly than DFSP.
* Giant cell fibroblastoma (GCF): This is a rare subtype of DFS that typically occurs on the face or scalp.

The diagnosis of DFS is based on a combination of clinical examination, imaging studies, and pathological analysis of a biopsy sample. Treatment options for DFS include surgery, radiation therapy, and chemotherapy, depending on the size and location of the tumor, as well as the patient's overall health status.

Prognosis for DFS is generally good if the tumor is completely removed with surgery, but recurrence can occur in some cases. Therefore, regular follow-up examinations are important to monitor for any signs of recurrence or new tumors.

Monosomy refers to a condition where an individual has only one copy of a particular chromosome, instead of the usual two copies present in every cell of the body. This can occur due to various genetic or environmental factors and can lead to developmental delays, intellectual disability, and physical abnormalities.

Other Defination:
Monosomy can also refer to the absence of a specific chromosome or part of a chromosome. For example, monosomy 21 is the condition where an individual has only one copy of chromosome 21, which is the chromosome responsible for Down syndrome. Similarly, monosomy 8p is the condition where there is a loss of a portion of chromosome 8p.

Synonyms:
Monosomy is also known as single chromosome deletion or single chromosome monosomy.

Antonyms:
Polysomy, which refers to the presence of extra copies of a particular chromosome, is the antonym of monosomy.

In Medical Terminology:
Monosomy is a genetic term that is used to describe a condition where there is only one copy of a particular chromosome present in an individual's cells, instead of the usual two copies. This can occur due to various factors such as errors during cell division or exposure to certain chemicals or viruses. Monosomy can lead to a range of developmental delays and physical abnormalities, depending on the location and extent of the missing chromosome material.

In Plain English:
Monosomy is a condition where a person has only one copy of a particular chromosome instead of two copies. This can cause developmental delays and physical abnormalities, and can be caused by genetic or environmental factors. It's important to note that monosomy can occur on any chromosome, but some specific types of monosomy are more common and well-known than others. For example, Down syndrome is a type of monosomy that occurs when there is an extra copy of chromosome 21.

Neoplasms, plasma cell, are tumors that arise from plasma cells and can be either benign or malignant. They are relatively rare and tend to affect older adults.

Symptoms of neoplasms, plasma cell, include bone pain, tiredness, fever, and weight loss. Treatment options vary depending on the type and stage of the tumor but may include chemotherapy, radiation therapy, or surgery.

Neoplasms, plasma cells are classified as either extramedullary (outside the bone marrow) or intramedullary (within the bone marrow). The most common type of plasma cell neoplasm is multiple myeloma, which is a malignant tumor that affects the bone marrow and can cause bone pain, infections, and other complications.

Liver neoplasms, also known as liver tumors or hepatic tumors, are abnormal growths of tissue in the liver. These growths can be benign (non-cancerous) or malignant (cancerous). Malignant liver tumors can be primary, meaning they originate in the liver, or metastatic, meaning they spread to the liver from another part of the body.

There are several types of liver neoplasms, including:

1. Hepatocellular carcinoma (HCC): This is the most common type of primary liver cancer and arises from the main cells of the liver (hepatocytes). HCC is often associated with cirrhosis and can be caused by viral hepatitis or alcohol abuse.
2. Cholangiocarcinoma: This type of cancer arises from the cells lining the bile ducts within the liver (cholangiocytes). Cholangiocarcinoma is rare and often diagnosed at an advanced stage.
3. Hemangiosarcoma: This is a rare type of cancer that originates in the blood vessels of the liver. It is most commonly seen in dogs but can also occur in humans.
4. Fibromas: These are benign tumors that arise from the connective tissue of the liver (fibrocytes). Fibromas are usually small and do not spread to other parts of the body.
5. Adenomas: These are benign tumors that arise from the glandular cells of the liver (hepatocytes). Adenomas are usually small and do not spread to other parts of the body.

The symptoms of liver neoplasms vary depending on their size, location, and whether they are benign or malignant. Common symptoms include abdominal pain, fatigue, weight loss, and jaundice (yellowing of the skin and eyes). Diagnosis is typically made through a combination of imaging tests such as CT scans, MRI scans, and ultrasound, and a biopsy to confirm the presence of cancer cells.

Treatment options for liver neoplasms depend on the type, size, location, and stage of the tumor, as well as the patient's overall health. Surgery may be an option for some patients with small, localized tumors, while others may require chemotherapy or radiation therapy to shrink the tumor before surgery can be performed. In some cases, liver transplantation may be necessary.

Prognosis for liver neoplasms varies depending on the type and stage of the cancer. In general, early detection and treatment improve the prognosis, while advanced-stage disease is associated with a poorer prognosis.

The symptoms of oligodendroglioma can vary depending on the location and size of the tumor, but may include headaches, seizures, weakness or numbness in the arms or legs, and changes in personality or behavior.

Oligodendrogliomas are diagnosed through a combination of imaging tests such as MRI or CT scans, and tissue biopsy. Treatment options for oligodendroglioma can include surgery to remove the tumor, radiation therapy, and chemotherapy with drugs such as temozolomide.

Prognosis for oligodendroglioma depends on the location, size, and aggressiveness of the tumor, as well as the age and overall health of the patient. In general, benign oligodendrogliomas have a good prognosis, while malignant ones are more difficult to treat and can be associated with a poorer outcome.

There is ongoing research into new treatments for oligodendroglioma, including clinical trials of innovative drugs and therapies.

Neoplasm refers to an abnormal growth of cells that can be benign (non-cancerous) or malignant (cancerous). Neoplasms can occur in any part of the body and can affect various organs and tissues. The term "neoplasm" is often used interchangeably with "tumor," but while all tumors are neoplasms, not all neoplasms are tumors.

Types of Neoplasms

There are many different types of neoplasms, including:

1. Carcinomas: These are malignant tumors that arise in the epithelial cells lining organs and glands. Examples include breast cancer, lung cancer, and colon cancer.
2. Sarcomas: These are malignant tumors that arise in connective tissue, such as bone, cartilage, and fat. Examples include osteosarcoma (bone cancer) and soft tissue sarcoma.
3. Lymphomas: These are cancers of the immune system, specifically affecting the lymph nodes and other lymphoid tissues. Examples include Hodgkin lymphoma and non-Hodgkin lymphoma.
4. Leukemias: These are cancers of the blood and bone marrow that affect the white blood cells. Examples include acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL).
5. Melanomas: These are malignant tumors that arise in the pigment-producing cells called melanocytes. Examples include skin melanoma and eye melanoma.

Causes and Risk Factors of Neoplasms

The exact causes of neoplasms are not fully understood, but there are several known risk factors that can increase the likelihood of developing a neoplasm. These include:

1. Genetic predisposition: Some people may be born with genetic mutations that increase their risk of developing certain types of neoplasms.
2. Environmental factors: Exposure to certain environmental toxins, such as radiation and certain chemicals, can increase the risk of developing a neoplasm.
3. Infection: Some neoplasms are caused by viruses or bacteria. For example, human papillomavirus (HPV) is a common cause of cervical cancer.
4. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and a poor diet can increase the risk of developing certain types of neoplasms.
5. Family history: A person's risk of developing a neoplasm may be higher if they have a family history of the condition.

Signs and Symptoms of Neoplasms

The signs and symptoms of neoplasms can vary depending on the type of cancer and where it is located in the body. Some common signs and symptoms include:

1. Unusual lumps or swelling
2. Pain
3. Fatigue
4. Weight loss
5. Change in bowel or bladder habits
6. Unexplained bleeding
7. Coughing up blood
8. Hoarseness or a persistent cough
9. Changes in appetite or digestion
10. Skin changes, such as a new mole or a change in the size or color of an existing mole.

Diagnosis and Treatment of Neoplasms

The diagnosis of a neoplasm usually involves a combination of physical examination, imaging tests (such as X-rays, CT scans, or MRI scans), and biopsy. A biopsy involves removing a small sample of tissue from the suspected tumor and examining it under a microscope for cancer cells.

The treatment of neoplasms depends on the type, size, location, and stage of the cancer, as well as the patient's overall health. Some common treatments include:

1. Surgery: Removing the tumor and surrounding tissue can be an effective way to treat many types of cancer.
2. Chemotherapy: Using drugs to kill cancer cells can be effective for some types of cancer, especially if the cancer has spread to other parts of the body.
3. Radiation therapy: Using high-energy radiation to kill cancer cells can be effective for some types of cancer, especially if the cancer is located in a specific area of the body.
4. Immunotherapy: Boosting the body's immune system to fight cancer can be an effective treatment for some types of cancer.
5. Targeted therapy: Using drugs or other substances to target specific molecules on cancer cells can be an effective treatment for some types of cancer.

Prevention of Neoplasms

While it is not always possible to prevent neoplasms, there are several steps that can reduce the risk of developing cancer. These include:

1. Avoiding exposure to known carcinogens (such as tobacco smoke and radiation)
2. Maintaining a healthy diet and lifestyle
3. Getting regular exercise
4. Not smoking or using tobacco products
5. Limiting alcohol consumption
6. Getting vaccinated against certain viruses that are associated with cancer (such as human papillomavirus, or HPV)
7. Participating in screening programs for early detection of cancer (such as mammograms for breast cancer and colonoscopies for colon cancer)
8. Avoiding excessive exposure to sunlight and using protective measures such as sunscreen and hats to prevent skin cancer.

It's important to note that not all cancers can be prevented, and some may be caused by factors that are not yet understood or cannot be controlled. However, by taking these steps, individuals can reduce their risk of developing cancer and improve their overall health and well-being.

Example sentences for "Hernia, Diaphragmatic" in english.

1. The baby was diagnosed with a diaphragmatic hernia at birth and underwent surgery to repair it within the first few days of life.
2. The patient experienced severe symptoms of a diaphragmatic hernia, including difficulty swallowing and recurrent vomiting, and was referred for surgical intervention.
3. The surgeon specialized in the repair of congenital diaphragmatic hernias and had successfully treated many infants with this condition.

Types of Craniofacial Abnormalities:

1. Cleft lip and palate: A congenital deformity that affects the upper jaw, nose, and mouth.
2. Premature fusion of skull bones: Can result in an abnormally shaped head or face.
3. Distraction osteogenesis: A condition where the bones fail to grow properly, leading to abnormal growth patterns.
4. Facial asymmetry: A condition where one side of the face is smaller or larger than the other.
5. Craniosynostosis: A condition where the skull bones fuse together too early, causing an abnormally shaped head.
6. Micrognathia: A condition where the lower jaw is smaller than normal, which can affect breathing and feeding.
7. Macroglossia: A condition where the tongue is larger than normal, which can cause difficulty swallowing and breathing.
8. Oculofacial dysostosis: A condition that affects the development of the eyes and face.
9. Treacher Collins syndrome: A rare genetic disorder that affects the development of the face, particularly the eyes, ears, and jaw.

Causes of Craniofacial Abnormalities:

1. Genetics: Many craniofacial abnormalities are inherited from one or both parents.
2. Environmental factors: Exposure to certain drugs, alcohol, or infections during pregnancy can increase the risk of craniofacial abnormalities.
3. Premature birth: Babies born prematurely are at a higher risk for craniofacial abnormalities.
4. Trauma: Head injuries or other traumatic events can cause craniofacial abnormalities.
5. Infections: Certain infections, such as meningitis or encephalitis, can cause craniofacial abnormalities.

Treatment of Craniofacial Abnormalities:

1. Surgery: Many craniofacial abnormalities can be treated with surgery to correct the underlying deformity.
2. Orthodontic treatment: Braces or other orthodontic devices can be used to align teeth and improve the appearance of the face.
3. Speech therapy: Certain craniofacial abnormalities, such as micrognathia, can affect speech development. Speech therapy can help improve communication skills.
4. Medication: In some cases, medication may be prescribed to manage symptoms associated with craniofacial abnormalities, such as pain or breathing difficulties.
5. Rehabilitation: Physical therapy and occupational therapy can help individuals with craniofacial abnormalities regain function and mobility after surgery or other treatments.

It is important to note that the treatment of craniofacial abnormalities varies depending on the specific condition and its severity. A healthcare professional, such as a pediatrician, orthodontist, or plastic surgeon, should be consulted for proper diagnosis and treatment.

It is also important to remember that craniofacial abnormalities can have a significant impact on an individual's quality of life, affecting their self-esteem, social relationships, and ability to function in daily activities. Therefore, it is essential to provide appropriate support and resources for individuals with these conditions, including psychological counseling, social support groups, and education about the condition.

There are several types of melanoma, including:

1. Superficial spreading melanoma: This is the most common type of melanoma, accounting for about 70% of cases. It usually appears as a flat or slightly raised discolored patch on the skin.
2. Nodular melanoma: This type of melanoma is more aggressive and accounts for about 15% of cases. It typically appears as a raised bump on the skin, often with a darker color.
3. Acral lentiginous melanoma: This type of melanoma affects the palms of the hands, soles of the feet, or nail beds and accounts for about 5% of cases.
4. Lentigo maligna melanoma: This type of melanoma usually affects the face and is more common in older adults.

The risk factors for developing melanoma include:

1. Ultraviolet (UV) radiation exposure from the sun or tanning beds
2. Fair skin, light hair, and light eyes
3. A history of sunburns
4. Weakened immune system
5. Family history of melanoma

The symptoms of melanoma can vary depending on the type and location of the cancer. Common symptoms include:

1. Changes in the size, shape, or color of a mole
2. A new mole or growth on the skin
3. A spot or sore that bleeds or crusts over
4. Itching or pain on the skin
5. Redness or swelling around a mole

If melanoma is suspected, a biopsy will be performed to confirm the diagnosis. Treatment options for melanoma depend on the stage and location of the cancer and may include surgery, chemotherapy, radiation therapy, or a combination of these. Early detection and treatment are key to successful outcomes in melanoma cases.

In conclusion, melanoma is a type of skin cancer that can be deadly if not detected early. It is important to practice sun safety, perform regular self-exams, and seek medical attention if any suspicious changes are noticed on the skin. By being aware of the risk factors, symptoms, and treatment options for melanoma, individuals can take steps to protect themselves from this potentially deadly disease.

The Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) defines Autistic Disorder as a pervasive developmental disorder that meets the following criteria:

A. Persistent deficits in social communication and social interaction across multiple contexts, including:

1. Deficits in social-emotional reciprocity (e.g., abnormal or absent eye contact, impaired understanding of facial expressions, delayed or lack of response to social overtures).
2. Deficits in developing, maintaining, and understanding relationships (e.g., difficulty initiating or sustaining conversations, impairment in understanding social norms, rules, and expectations).
3. Deficits in using nonverbal behaviors to regulate social interaction (e.g., difficulty with eye contact, facial expressions, body language, gestures).

B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least one of the following:

1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., hand flapping, head banging, repeating words or phrases).
2. Insistence on sameness, inflexibility, and adherence to routines or rituals.
3. Preoccupation with specific interests or activities that are repeated in a rigid and restricted manner (e.g., preoccupation with a particular topic, excessive focus on a specific activity).

C. Symptoms must be present in the early developmental period and significantly impact social, occupational, or other areas of functioning.

D. The symptoms do not occur exclusively during a medical or neurological condition (e.g., intellectual disability, hearing loss).

It is important to note that Autistic Disorder is a spectrum disorder and individuals with this diagnosis may have varying degrees of severity in their symptoms. Additionally, there are several other Pervasive Developmental Disorders (PDDs) that have similar diagnostic criteria but may differ in severity and presentation. These include:

A. Asperger's Disorder: Characterized by difficulties with social interaction and communication, but without the presence of significant delay or retardation in language development.

B. Rett Syndrome: A rare genetic disorder that is characterized by difficulties with social interaction, communication, and repetitive behaviors.

C. Childhood Disintegrative Disorder: Characterized by a loss of language and social skills that occurs after a period of normal development.

It is important to consult with a qualified professional, such as a psychologist or psychiatrist, for an accurate diagnosis and appropriate treatment.

There are several subtypes of lymphoma, B-cell, including:

1. Diffuse large B-cell lymphoma (DLBCL): This is the most common type of B-cell lymphoma and typically affects older adults.
2. Follicular lymphoma: This type of lymphoma grows slowly and often does not require treatment for several years.
3. Marginal zone lymphoma: This type of lymphoma develops in the marginal zone of the spleen or other lymphoid tissues.
4. Hodgkin lymphoma: This is a type of B-cell lymphoma that is characterized by the presence of Reed-Sternberg cells, which are abnormal cells that can be identified under a microscope.

The symptoms of lymphoma, B-cell can vary depending on the subtype and the location of the tumor. Common symptoms include swollen lymph nodes, fatigue, fever, night sweats, and weight loss.

Treatment for lymphoma, B-cell usually involves chemotherapy, which is a type of cancer treatment that uses drugs to kill cancer cells. Radiation therapy may also be used in some cases. In some cases, bone marrow or stem cell transplantation may be recommended.

Prognosis for lymphoma, B-cell depends on the subtype and the stage of the disease at the time of diagnosis. In general, the prognosis is good for patients with early-stage disease, but the cancer can be more difficult to treat if it has spread to other parts of the body.

Prevention of lymphoma, B-cell is not possible, as the exact cause of the disease is not known. However, avoiding exposure to certain risk factors, such as viral infections and pesticides, may help reduce the risk of developing the disease. Early detection and treatment can also improve outcomes for patients with lymphoma, B-cell.

Lymphoma, B-cell is a type of cancer that affects the immune system and can be treated with chemotherapy and other therapies. The prognosis varies depending on the subtype and stage of the disease at diagnosis. Prevention is not possible, but early detection and treatment can improve outcomes for patients with this condition.

Adenomas are caused by genetic mutations that occur in the DNA of the affected cells. These mutations can be inherited or acquired through exposure to environmental factors such as tobacco smoke, radiation, or certain chemicals.

The symptoms of an adenoma can vary depending on its location and size. In general, they may include abdominal pain, bleeding, or changes in bowel movements. If the adenoma becomes large enough, it can obstruct the normal functioning of the affected organ or cause a blockage that can lead to severe health complications.

Adenomas are usually diagnosed through endoscopy, which involves inserting a flexible tube with a camera into the affected organ to visualize the inside. Biopsies may also be taken to confirm the presence of cancerous cells.

Treatment for adenomas depends on their size, location, and severity. Small, non-pedunculated adenomas can often be removed during endoscopy through a procedure called endoscopic mucosal resection (EMR). Larger adenomas may require surgical resection, and in some cases, chemotherapy or radiation therapy may also be necessary.

In summary, adenoma is a type of benign tumor that can occur in glandular tissue throughout the body. While they are not cancerous, they have the potential to become malignant over time if left untreated. Therefore, it is important to seek medical attention if symptoms persist or worsen over time. Early detection and treatment can help prevent complications and improve outcomes for patients with adenomas.

Supratentorial neoplasms can cause a variety of symptoms, including headaches, seizures, weakness or numbness in the arms or legs, and changes in personality or behavior. They can also cause hydrocephalus, a condition in which fluid accumulates in the brain, leading to increased intracranial pressure and potentially life-threatening complications.

The diagnosis of supratentorial neoplasms typically involves a combination of imaging studies such as CT or MRI scans, and tissue biopsy. Treatment options for supratentorial neoplasms depend on the type and location of the tumor, and may include surgery, radiation therapy, and chemotherapy.

Some common types of supratentorial neoplasms include:

* Gliomas: These are the most common type of primary brain tumor, arising from the supporting cells of the brain called glial cells. Examples of gliomas include astrocytomas, oligodendrogliomas, and glioblastoma multiforme.
* Meningiomas: These are tumors that arise from the meninges, the membranes covering the brain and spinal cord. Meningiomas are usually benign but can occasionally be malignant.
* Acoustic neurinomas: These are slow-growing tumors that develop on the nerve that connects the inner ear to the brain.
* Pineal region tumors: These are tumors that arise in the pineal gland, a small endocrine gland located in the brain. Examples of pineal region tumors include pineal parenchymal tumors and pineal gland-derived tumors.

Overall, supratentorial neoplasms can be challenging to diagnose and treat, and may require a multidisciplinary approach involving neurosurgeons, radiation oncologists, and medical oncologists. Prognosis and treatment options vary depending on the specific type of tumor and its location in the brain.

There are several types of apraxias, each with distinct symptoms and characteristics:

1. Ideomotor apraxia: Difficulty performing specific movements or gestures, such as grasping and manipulating objects, due to a lack of understanding of the intended purpose or meaning of the action.
2. Ideational apraxia: Inability to initiate or perform movements due to a lack of understanding of the task or goal.
3. Kinesthetic apraxia: Difficulty judging the weight, shape, size, and position of objects in space, leading to difficulties with grasping, manipulating, or coordinating movements.
4. Graphomotor apraxia: Difficulty writing or drawing due to a lack of coordination between the hand and the intended movement.
5. Dressing apraxia: Difficulty dressing oneself due to a lack of coordination and planning for the movements required to put on clothes.
6. Gait apraxia: Difficulty walking or maintaining balance due to a lack of coordinated movement of the legs, trunk, and arms.
7. Speech apraxia: Difficulty articulating words or sounds due to a lack of coordination between the mouth, tongue, and lips.

The diagnosis of apraxias typically involves a comprehensive neurological examination, including assessments of motor function, language, and cognitive abilities. Treatment options vary depending on the underlying cause and severity of the apraxia, but may include physical therapy, speech therapy, occupational therapy, and medication.

There are several types of lung neoplasms, including:

1. Adenocarcinoma: This is the most common type of lung cancer, accounting for approximately 40% of all lung cancers. It is a malignant tumor that originates in the glands of the respiratory tract and can be found in any part of the lung.
2. Squamous cell carcinoma: This type of lung cancer accounts for approximately 25% of all lung cancers and is more common in men than women. It is a malignant tumor that originates in the squamous cells lining the airways of the lungs.
3. Small cell lung cancer (SCLC): This is a highly aggressive form of lung cancer that accounts for approximately 15% of all lung cancers. It is often found in the central parts of the lungs and can spread quickly to other parts of the body.
4. Large cell carcinoma: This is a rare type of lung cancer that accounts for only about 5% of all lung cancers. It is a malignant tumor that originates in the large cells of the respiratory tract and can be found in any part of the lung.
5. Bronchioalveolar carcinoma (BAC): This is a rare type of lung cancer that originates in the cells lining the airways and alveoli of the lungs. It is more common in women than men and tends to affect older individuals.
6. Lymphangioleiomyomatosis (LAM): This is a rare, progressive, and often fatal lung disease that primarily affects women of childbearing age. It is characterized by the growth of smooth muscle-like cells in the lungs and can lead to cysts, lung collapse, and respiratory failure.
7. Hamartoma: This is a benign tumor that originates in the tissue of the lungs and is usually found in children. It is characterized by an overgrowth of normal lung tissue and can be treated with surgery.
8. Secondary lung cancer: This type of cancer occurs when cancer cells from another part of the body spread to the lungs through the bloodstream or lymphatic system. It is more common in people who have a history of smoking or exposure to other carcinogens.
9. Metastatic cancer: This type of cancer occurs when cancer cells from another part of the body spread to the lungs through the bloodstream or lymphatic system. It is more common in people who have a history of smoking or exposure to other carcinogens.
10. Mesothelioma: This is a rare and aggressive form of cancer that originates in the lining of the lungs or abdomen. It is caused by asbestos exposure and can be treated with surgery, chemotherapy, and radiation therapy.

Lung diseases can also be classified based on their cause, such as:

1. Infectious diseases: These are caused by bacteria, viruses, or other microorganisms and can include pneumonia, tuberculosis, and bronchitis.
2. Autoimmune diseases: These are caused by an overactive immune system and can include conditions such as sarcoidosis and idiopathic pulmonary fibrosis.
3. Genetic diseases: These are caused by inherited mutations in genes that affect the lungs and can include cystic fibrosis and primary ciliary dyskinesia.
4. Environmental diseases: These are caused by exposure to harmful substances such as tobacco smoke, air pollution, and asbestos.
5. Radiological diseases: These are caused by exposure to ionizing radiation and can include conditions such as radiographic breast cancer and lung cancer.
6. Vascular diseases: These are caused by problems with the blood vessels in the lungs and can include conditions such as pulmonary embolism and pulmonary hypertension.
7. Tumors: These can be benign or malignant and can include conditions such as lung metastases and lung cancer.
8. Trauma: This can include injuries to the chest or lungs caused by accidents or other forms of trauma.
9. Congenital diseases: These are present at birth and can include conditions such as bronchopulmonary foregut malformations and congenital cystic adenomatoid malformation.

Each type of lung disease has its own set of symptoms, diagnosis, and treatment options. It is important to seek medical attention if you experience any persistent or severe respiratory symptoms, as early diagnosis and treatment can improve outcomes and quality of life.

There are several subtypes of carcinoma, including:

1. Adenocarcinoma: This type of carcinoma originates in glandular cells, which produce fluids or mucus. Examples include breast cancer, prostate cancer, and colon cancer.
2. Squamous cell carcinoma: This type of carcinoma originates in squamous cells, which are found on the surface layers of skin and mucous membranes. Examples include head and neck cancers, cervical cancer, and anal cancer.
3. Basal cell carcinoma: This type of carcinoma originates in the deepest layer of skin, called the basal layer. It is the most common type of skin cancer and tends to grow slowly.
4. Neuroendocrine carcinoma: This type of carcinoma originates in cells that produce hormones and neurotransmitters. Examples include lung cancer, pancreatic cancer, and thyroid cancer.
5. Small cell carcinoma: This type of carcinoma is a highly aggressive form of lung cancer that spreads quickly to other parts of the body.

The signs and symptoms of carcinoma depend on the location and stage of the cancer. Some common symptoms include:

* A lump or mass
* Pain
* Skin changes, such as a new mole or a change in the color or texture of the skin
* Changes in bowel or bladder habits
* Abnormal bleeding

The diagnosis of carcinoma typically involves a combination of imaging tests, such as X-rays, CT scans, MRI scans, and PET scans, and a biopsy, which involves removing a small sample of tissue for examination under a microscope. Treatment options for carcinoma depend on the location and stage of the cancer and may include surgery, radiation therapy, chemotherapy, or a combination of these.

In conclusion, carcinoma is a type of cancer that originates in epithelial cells and can occur in various parts of the body. Early detection and treatment are important for improving outcomes.

References:

1. American Cancer Society. (2022). Carcinoma. Retrieved from
2. Mayo Clinic. (2022). Carcinoma. Retrieved from
3. MedlinePlus. (2022). Carcinoma. Retrieved from

These tumors can be benign or malignant, and their growth and behavior vary depending on the type of cancer. Malignant tumors can invade the surrounding tissues and spread to other parts of the body through the bloodstream or lymphatic system, causing serious complications and potentially life-threatening consequences.

The risk factors for developing urinary bladder neoplasms include smoking, exposure to certain chemicals, recurrent bladder infections, and a family history of bladder cancer. The symptoms of these tumors can include blood in the urine, pain during urination, frequent urination, and abdominal pain.

Diagnosis of urinary bladder neoplasms is typically made through a combination of imaging tests such as ultrasound, computed tomography (CT) scan or magnetic resonance imaging (MRI), and cystoscopy, which involves inserting a flexible tube with a camera into the bladder to visualize the tumor.

Treatment options for urinary bladder neoplasms depend on the type of cancer, stage, and location of the tumor. Treatment may include surgery to remove the tumor, chemotherapy, radiation therapy, or a combination of these modalities. Early detection and treatment can improve the prognosis for patients with urinary bladder neoplasms.

Paragangliomas are rare, accounting for less than 1% of all tumors diagnosed in adults. They can occur at any age but are more common in young adults and middle-aged individuals. These tumors are more common in males than females, and their incidence is higher in certain families with inherited syndromes, such as neurofibromatosis type 1 (NF1) or familial paraganglioma.

The symptoms of paraganglioma depend on their location and size. Small tumors may not cause any symptoms, while larger tumors can press on nearby organs and structures, causing a variety of symptoms such as:

* Pain in the abdomen or pelvis
* Swelling or lump in the neck or abdomen
* High blood pressure
* Headaches
* Blurred vision
* Confusion or seizures (in cases of malignant paraganglioma)

Paragangliomas are difficult to diagnose, as they can be mistaken for other conditions such as appendicitis or pancreatitis. Imaging studies such as CT or MRI scans are often used to help identify the location and size of the tumor, while laboratory tests may be used to evaluate hormone levels and other factors that can help differentiate paraganglioma from other conditions.

Treatment for paraganglioma depends on the type, size, and location of the tumor, as well as the patient's overall health status. Small, benign tumors may not require treatment, while larger or malignant tumors may be treated with surgery, chemotherapy, or radiation therapy. In some cases, a combination of these treatments may be used.

The prognosis for paraganglioma is generally good if the tumor is diagnosed and treated early, but it can be poor if the tumor is large or has spread to other parts of the body. With surgical removal of the tumor, the 5-year survival rate is approximately 90% for patients with benign paraganglioma and 30-50% for those with malignant paraganglioma. However, the overall prognosis can vary depending on individual factors such as the size and location of the tumor, the effectiveness of treatment, and the patient's underlying health status.

Benign ovarian neoplasms include:

1. Serous cystadenoma: A fluid-filled sac that develops on the surface of the ovary.
2. Mucinous cystadenoma: A tumor that is filled with mucin, a type of protein.
3. Endometrioid tumors: Tumors that are similar to endometrial tissue (the lining of the uterus).
4. Theca cell tumors: Tumors that develop in the supportive tissue of the ovary called theca cells.

Malignant ovarian neoplasms include:

1. Epithelial ovarian cancer (EOC): The most common type of ovarian cancer, which arises from the surface epithelium of the ovary.
2. Germ cell tumors: Tumors that develop from germ cells, which are the cells that give rise to eggs.
3. Stromal sarcomas: Tumors that develop in the supportive tissue of the ovary.

Ovarian neoplasms can cause symptoms such as pelvic pain, abnormal bleeding, and abdominal swelling. They can also be detected through pelvic examination, imaging tests such as ultrasound and CT scan, and biopsy. Treatment options for ovarian neoplasms depend on the type, stage, and location of the tumor, and may include surgery, chemotherapy, and radiation therapy.

These disorders are caused by changes in specific genes that fail to function properly, leading to a cascade of effects that can damage cells and tissues throughout the body. Some inherited diseases are the result of single gene mutations, while others are caused by multiple genetic changes.

Inherited diseases can be diagnosed through various methods, including:

1. Genetic testing: This involves analyzing a person's DNA to identify specific genetic changes that may be causing the disease.
2. Blood tests: These can help identify certain inherited diseases by measuring enzyme levels or identifying specific proteins in the blood.
3. Imaging studies: X-rays, CT scans, and MRI scans can help identify structural changes in the body that may be indicative of an inherited disease.
4. Physical examination: A healthcare provider may perform a physical examination to look for signs of an inherited disease, such as unusual physical features or abnormalities.

Inherited diseases can be treated in various ways, depending on the specific condition and its causes. Some treatments include:

1. Medications: These can help manage symptoms and slow the progression of the disease.
2. Surgery: In some cases, surgery may be necessary to correct physical abnormalities or repair damaged tissues.
3. Gene therapy: This involves using genes to treat or prevent inherited diseases.
4. Rehabilitation: Physical therapy, occupational therapy, and other forms of rehabilitation can help individuals with inherited diseases manage their symptoms and improve their quality of life.

Inherited diseases are a significant public health concern, as they affect millions of people worldwide. However, advances in genetic research and medical technology have led to the development of new treatments and management strategies for these conditions. By working with healthcare providers and advocacy groups, individuals with inherited diseases can access the resources and support they need to manage their conditions and improve their quality of life.

Symptoms of cerebellar neoplasms can include:

* Headaches
* Nausea and vomiting
* Dizziness and loss of balance
* Weakness or paralysis in the arms or legs
* Coordination problems and difficulty walking
* Double vision or other visual disturbances
* Speech difficulties
* Seizures

Cerebellar neoplasms can be caused by genetic mutations, exposure to radiation, or viral infections. They can also occur spontaneously without any known cause.

Diagnosis of cerebellar neoplasms usually involves a combination of imaging tests such as CT or MRI scans, and tissue sampling through biopsy. Treatment options for cerebellar neoplasms depend on the type, size, and location of the tumor, as well as the patient's overall health.

Treatment options may include:

* Surgery to remove the tumor
* Radiation therapy to kill remaining cancer cells
* Chemotherapy to kill cancer cells
* Targeted therapy to attack specific molecules that are involved in the growth and spread of the tumor.

Prognosis for cerebellar neoplasms varies depending on the type, size, and location of the tumor, as well as the patient's overall health. In general, the prognosis is better for patients with benign tumors that are located in the outer layers of the cerebellum, and worse for those with malignant tumors that are located in the deeper layers.

Overall, cerebellar neoplasms are a complex and rare type of brain tumor that require specialized care and treatment from a team of medical professionals.

The symptoms of mesothelioma can vary depending on the location of the cancer, but they may include:

* Shortness of breath or pain in the chest (for pleural mesothelioma)
* Abdominal pain or swelling (for peritoneal mesothelioma)
* Fatigue or fever (for pericardial mesothelioma)
* Weight loss and night sweats

There is no cure for mesothelioma, but treatment options may include surgery, chemotherapy, and radiation therapy. The prognosis for mesothelioma is generally poor, with a five-year survival rate of about 5% to 10%. However, the outlook can vary depending on the type of mesothelioma, the stage of the cancer, and the patient's overall health.

Asbestos exposure is the primary risk factor for developing mesothelioma, and it is important to avoid exposure to asbestos in any form. This can be done by avoiding old buildings and products that contain asbestos, wearing protective clothing and equipment when working with asbestos, and following proper safety protocols when handling asbestos-containing materials.

In summary, mesothelioma is a rare and aggressive form of cancer that develops in the lining of the heart or abdomen due to exposure to asbestos. It can be difficult to diagnose and treat, and the prognosis is generally poor. However, with proper medical care and avoidance of asbestos exposure, patients with mesothelioma may have a better chance of survival.

Meningioma can occur in various locations within the brain, including the cerebrum, cerebellum, brainstem, and spinal cord. The most common type of meningioma is the meningothelial meningioma, which arises from the arachnoid membrane, one of the three layers of the meninges. Other types of meningioma include the dural-based meningioma, which originates from the dura mater, and the fibrous-cap meningioma, which is characterized by a fibrous cap covering the tumor.

The symptoms of meningioma can vary depending on the location and size of the tumor, but they often include headaches, seizures, weakness or numbness in the arms or legs, and changes in vision, memory, or cognitive function. As the tumor grows, it can compress the brain tissue and cause damage to the surrounding structures, leading to more severe symptoms such as difficulty speaking, walking, or controlling movement.

The diagnosis of meningioma typically involves a combination of imaging studies such as MRI or CT scans, and tissue sampling through biopsy or surgery. Treatment options for meningioma depend on the size, location, and aggressiveness of the tumor, but may include surgery, radiation therapy, and chemotherapy. Overall, the prognosis for meningioma is generally good, with many patients experiencing a good outcome after treatment. However, some types of meningioma can be more aggressive and difficult to treat, and the tumor may recur in some cases.

Nerve sheath neoplasms are usually slow-growing and may not cause any symptoms in the early stages. However, as they grow, they can exert pressure on the surrounding nerve tissue and cause a variety of symptoms, including:

1. Pain or numbness in the affected area
2. Weakness or paralysis of the muscles served by the affected nerve
3. Tingling or burning sensations in the skin or extremities
4. Seizures, in rare cases

The exact cause of nerve sheath neoplasms is not known, but they are thought to be associated with genetic mutations that affect the development and growth of nerve cells. Some cases may also be caused by inherited conditions, such as Neurofibromatosis type 1 (NF1) or schwannomatosis.

There are several types of nerve sheath neoplasms, including:

1. Neurofibromas: These are the most common type of nerve sheath tumor and are usually benign. They can occur in any part of the body and may grow slowly over time.
2. Schwannomas: These are also benign tumors that arise from the covering of nerves (the schwann cells). They are usually slow-growing and can occur in any part of the body.
3. Malignant peripheral nerve sheath tumors (MPNSTs): These are rare and aggressive tumors that can arise from the coverings of nerves. They can grow rapidly and can be difficult to treat.

Diagnosis of nerve sheath neoplasms typically involves a combination of imaging studies, such as MRI or CT scans, and a biopsy to confirm the presence of a tumor. Treatment options vary depending on the type, size, and location of the tumor, as well as the patient's overall health. Surgery is often the first line of treatment for nerve sheath neoplasms, and may be followed by radiation therapy or chemotherapy in some cases.

Neuroblastoma is caused by a genetic mutation that affects the development and growth of nerve cells. The cancerous cells are often sensitive to chemotherapy, but they can be difficult to remove surgically because they are deeply embedded in the nervous system.

There are several different types of neuroblastoma, including:

1. Infantile neuroblastoma: This type of neuroblastoma occurs in children under the age of one and is often more aggressive than other types of the cancer.
2. Juvenile neuroblastoma: This type of neuroblastoma occurs in children between the ages of one and five and tends to be less aggressive than infantile neuroblastoma.
3. Adult neuroblastoma: This type of neuroblastoma occurs in adults and is rare.
4. Metastatic neuroblastoma: This type of neuroblastoma has spread to other parts of the body, such as the bones or liver.

Symptoms of neuroblastoma can vary depending on the location and size of the tumor, but they may include:

* Abdominal pain
* Fever
* Loss of appetite
* Weight loss
* Fatigue
* Bone pain
* Swelling in the abdomen or neck
* Constipation
* Increased heart rate

Diagnosis of neuroblastoma typically involves a combination of imaging tests, such as CT scans and MRI scans, and biopsies to confirm the presence of cancerous cells. Treatment for neuroblastoma usually involves a combination of chemotherapy, surgery, and radiation therapy. The prognosis for neuroblastoma varies depending on the type of cancer, the age of the child, and the stage of the disease. In general, the younger the child and the more aggressive the treatment, the better the prognosis.

Symptoms of Kidney Neoplasms can include blood in the urine, pain in the flank or abdomen, weight loss, fever, and fatigue. Diagnosis is made through a combination of physical examination, imaging studies such as CT scans or ultrasound, and tissue biopsy. Treatment options vary depending on the type and stage of the neoplasm, but may include surgery, ablation therapy, targeted therapy, or chemotherapy.

It is important for individuals with a history of Kidney Neoplasms to follow up with their healthcare provider regularly for monitoring and check-ups to ensure early detection of any recurrences or new tumors.

There are several risk factors for developing HCC, including:

* Cirrhosis, which can be caused by heavy alcohol consumption, viral hepatitis (such as hepatitis B and C), or fatty liver disease
* Family history of liver disease
* Chronic obstructive pulmonary disease (COPD)
* Diabetes
* Obesity

HCC can be challenging to diagnose, as the symptoms are non-specific and can be similar to those of other conditions. However, some common symptoms of HCC include:

* Yellowing of the skin and eyes (jaundice)
* Fatigue
* Loss of appetite
* Abdominal pain or discomfort
* Weight loss

If HCC is suspected, a doctor may perform several tests to confirm the diagnosis, including:

* Imaging tests, such as ultrasound, CT scan, or MRI, to look for tumors in the liver
* Blood tests to check for liver function and detect certain substances that are produced by the liver
* Biopsy, which involves removing a small sample of tissue from the liver to examine under a microscope

Once HCC is diagnosed, treatment options will depend on several factors, including the stage and location of the cancer, the patient's overall health, and their personal preferences. Treatment options may include:

* Surgery to remove the tumor or parts of the liver
* Ablation, which involves destroying the cancer cells using heat or cold
* Chemoembolization, which involves injecting chemotherapy drugs into the hepatic artery to reach the cancer cells
* Targeted therapy, which uses drugs or other substances to target specific molecules that are involved in the growth and spread of the cancer

Overall, the prognosis for HCC is poor, with a 5-year survival rate of approximately 20%. However, early detection and treatment can improve outcomes. It is important for individuals at high risk for HCC to be monitored regularly by a healthcare provider, and to seek medical attention if they experience any symptoms.

The symptoms of meningeal neoplasms vary depending on the location, size, and type of tumor. Common symptoms include headaches, seizures, weakness or numbness in the arms or legs, and changes in vision, memory, or behavior. As the tumor grows, it can compress or displaces the brain tissue, leading to increased intracranial pressure and potentially life-threatening complications.

There are several different types of meningeal neoplasms, including:

1. Meningioma: This is the most common type of meningeal neoplasm, accounting for about 75% of all cases. Meningiomas are usually benign and grow slowly, but they can sometimes be malignant.
2. Metastatic tumors: These are tumors that have spread to the meninges from another part of the body, such as the lung or breast.
3. Lymphoma: This is a type of cancer that affects the immune system and can spread to the meninges.
4. Melanotic neuroectodermal tumors (MNTs): These are rare, malignant tumors that usually occur in children and young adults.
5. Hemangiopericytic hyperplasia: This is a rare, benign condition characterized by an overgrowth of blood vessels in the meninges.

The diagnosis of meningeal neoplasms is based on a combination of clinical symptoms, physical examination findings, and imaging studies such as CT or MRI scans. A biopsy may be performed to confirm the diagnosis and determine the type of tumor.

Treatment options for meningeal neoplasms depend on the type, size, and location of the tumor, as well as the patient's overall health. Surgery is often the first line of treatment, and may involve removing as much of the tumor as possible or using a laser to ablate (destroy) the tumor cells. Radiation therapy and chemotherapy may also be used in combination with surgery to treat malignant meningeal neoplasms.

Prognosis for meningeal neoplasms varies depending on the type of tumor and the patient's overall health. In general, early diagnosis and treatment improve the prognosis, while later-stage tumors may have a poorer outcome.

There are several types of stomach neoplasms, including:

1. Adenocarcinoma: This is the most common type of stomach cancer, accounting for approximately 90% of all cases. It begins in the glandular cells that line the stomach and can spread to other parts of the body.
2. Squamous cell carcinoma: This type of cancer begins in the squamous cells that cover the outer layer of the stomach. It is less common than adenocarcinoma but more likely to be found in the upper part of the stomach.
3. Gastric mixed adenocarcinomasquamous cell carcinoma: This type of cancer is a combination of adenocarcinoma and squamous cell carcinoma.
4. Lymphoma: This is a cancer of the immune system that can occur in the stomach. It is less common than other types of stomach cancer but can be more aggressive.
5. Carcinomas of the stomach: These are malignant tumors that arise from the epithelial cells lining the stomach. They can be subdivided into adenocarcinoma, squamous cell carcinoma, and others.
6. Gastric brunner's gland adenoma: This is a rare type of benign tumor that arises from the Brunner's glands in the stomach.
7. Gastric polyps: These are growths that occur on the lining of the stomach and can be either benign or malignant.

The symptoms of stomach neoplasms vary depending on the location, size, and type of tumor. Common symptoms include abdominal pain, nausea, vomiting, weight loss, and difficulty swallowing. Diagnosis is usually made through a combination of endoscopy, imaging studies (such as CT or PET scans), and biopsy. Treatment depends on the type and stage of the tumor and may include surgery, chemotherapy, radiation therapy, or a combination of these. The prognosis for stomach neoplasms varies depending on the type and stage of the tumor, but early detection and treatment can improve outcomes.

Neoplastic metastasis can occur in any type of cancer but are more common in solid tumors such as carcinomas (breast, lung, colon). It is important for cancer diagnosis and prognosis because metastasis indicates that the cancer has spread beyond its original site and may be more difficult to treat.

Metastases can appear at any distant location but commonly found sites include the liver, lungs, bones, brain, and lymph nodes. The presence of metastases indicates a higher stage of cancer which is associated with lower survival rates compared to localized cancer.

* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.

Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:

* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking

There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:

* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.

In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.

Glioblastomas are highly malignant tumors that can grow rapidly and infiltrate surrounding brain tissue, making them difficult to remove surgically. They often recur after treatment and are usually fatal within a few years of diagnosis.

The symptoms of glioblastoma can vary depending on the location and size of the tumor but may include headaches, seizures, weakness or numbness in the arms or legs, and changes in personality, memory or cognitive function.

Glioblastomas are diagnosed through a combination of imaging tests such as CT or MRI scans, and a biopsy to confirm the presence of cancerous cells. Treatment typically involves surgery to remove as much of the tumor as possible, followed by radiation therapy and chemotherapy to slow the growth of any remaining cancerous cells.

Prognosis for glioblastoma is generally poor, with a five-year survival rate of around 5% for newly diagnosed patients. However, the prognosis can vary depending on factors such as the location and size of the tumor, the patient's age and overall health, and the effectiveness of treatment.

There are several subtypes of chondrosarcoma, including:

1. Grade 1 (low-grade) chondrosarcoma: This is a slow-growing tumor that is less likely to spread to other parts of the body.
2. Grade 2 (intermediate-grade) chondrosarcoma: This type of tumor grows more quickly than grade 1 and may be more likely to spread.
3. Grade 3 (high-grade) chondrosarcoma: This is an aggressive tumor that can grow quickly and spread to other parts of the body.

The symptoms of chondrosarcoma can vary depending on the location of the tumor, but may include pain in the affected area, swelling, and limited mobility. Treatment for chondrosarcoma typically involves surgery to remove the tumor, followed by radiation therapy and/or chemotherapy to kill any remaining cancer cells. The prognosis for chondrosarcoma varies depending on the grade of the tumor and the effectiveness of treatment.

Sources:

* American Cancer Society. (2020). Chondrosarcoma. Retrieved from
* Mayo Clinic. (2020). Chondrosarcoma. Retrieved from
* National Cancer Institute. (2020). Chondrosarcoma. Retrieved from

Examples of soft tissue neoplasms include:

1. Lipoma: a benign tumor composed of fat cells.
2. Fibroma: a benign tumor composed of fibrous tissue.
3. Leiomyoma: a benign tumor composed of smooth muscle tissue.
4. Synovial sarcoma: a malignant tumor that arises in the soft tissues surrounding joints.
5. Rhabdomyosarcoma: a malignant tumor that arises in the skeletal muscles.
6. Neurofibroma: a benign tumor that arises in the nerve tissue.

Soft tissue neoplasms can occur in various parts of the body, including the extremities (arms and legs), trunk, and head and neck. They can be diagnosed through a combination of imaging studies such as X-rays, CT scans, MRI scans, and biopsy.

Treatment for soft tissue neoplasms depends on the type, size, location, and aggressiveness of the tumor, as well as the patient's overall health. Benign tumors may not require treatment, while malignant tumors may be treated with surgery, radiation therapy, or chemotherapy.

Types of Sex Chromosome Aberrations:

1. Turner Syndrome: A condition where a female has only one X chromosome instead of two (45,X).
2. Klinefelter Syndrome: A condition where a male has an extra X chromosome (47,XXY) or an extra Y chromosome (47,XYYY).
3. XXX Syndrome: A rare condition where a female has three X chromosomes instead of two.
4. XYY Syndrome: A rare condition where a male has an extra Y chromosome (48,XYY).
5. Mosaicism: A condition where a person has a mixture of cells with different numbers of sex chromosomes.

Effects of Sex Chromosome Aberrations:

Sex chromosome aberrations can cause a range of physical and developmental abnormalities, such as short stature, infertility, and reproductive problems. They may also increase the risk of certain health conditions, including:

1. Congenital heart defects
2. Cognitive impairments
3. Learning disabilities
4. Developmental delays
5. Increased risk of infections and autoimmune disorders

Diagnosis of Sex Chromosome Aberrations:

Sex chromosome aberrations can be diagnosed through various methods, including:

1. Karyotyping: A test that involves analyzing the number and structure of an individual's chromosomes.
2. Fluorescence in situ hybridization (FISH): A test that uses fluorescent probes to detect specific DNA sequences on chromosomes.
3. Chromosomal microarray analysis: A test that looks for changes in the number or structure of chromosomes by analyzing DNA from blood or other tissues.
4. Next-generation sequencing (NGS): A test that analyzes an individual's entire genome to identify specific genetic variations, including sex chromosome aberrations.

Treatment and Management of Sex Chromosome Aberrations:

There is no cure for sex chromosome aberrations, but there are various treatments and management options available to help alleviate symptoms and improve quality of life. These may include:

1. Hormone replacement therapy (HRT): To address hormonal imbalances and related symptoms.
2. Assisted reproductive technologies (ART): Such as in vitro fertilization (IVF) or preimplantation genetic diagnosis (PGD), to help individuals with infertility or pregnancy complications.
3. Prenatal testing: To identify sex chromosome aberrations in fetuses, allowing parents to make informed decisions about their pregnancies.
4. Counseling and support: To help individuals and families cope with the emotional and psychological impact of a sex chromosome abnormality diagnosis.
5. Surgeries or other medical interventions: To address related health issues, such as infertility, reproductive tract abnormalities, or genital ambiguity.

It's important to note that each individual with a sex chromosome aberration may require a unique treatment plan tailored to their specific needs and circumstances. A healthcare provider can work with the individual and their family to develop a personalized plan that takes into account their medical, emotional, and social considerations.

In conclusion, sex chromosome aberrations are rare genetic disorders that can have significant implications for an individual's physical, emotional, and social well-being. While there is no cure for these conditions, advances in diagnostic testing and treatment options offer hope for improving the lives of those affected. With proper medical care, support, and understanding, individuals with sex chromosome aberrations can lead fulfilling lives.

Primitive neuroectodermal tumors are a type of neuroectodermal tumor that is thought to arise from primitive neural cells, which are the earliest forms of brain cells. These tumors tend to be more aggressive than other types of neuroectodermal tumors and have a poorer prognosis.

Some common features of primitive neuroectodermal tumors include:

* They usually occur in children and young adults, although they can occur at any age.
* They tend to be located in the central nervous system, particularly in the brain or spine.
* They are often large and can grow rapidly.
* They can cause a variety of symptoms depending on their location, including headaches, seizures, weakness or numbness in the arms or legs, and changes in vision, balance, or coordination.
* They are often diagnosed using imaging tests such as CT or MRI scans, and a biopsy may be performed to confirm the diagnosis.
* Treatment typically involves surgery to remove as much of the tumor as possible, followed by radiation therapy and chemotherapy to kill any remaining cancer cells.

Overall, primitive neuroectodermal tumors are rare and aggressive brain tumors that can occur in both children and adults. They tend to be more difficult to treat than other types of brain tumors, but with the help of advanced medical techniques and a multidisciplinary team of healthcare professionals, it is possible to improve outcomes for patients with these tumors.

Sources:

1. "Primitive Neuroectodermal Tumors." American Brain Tumor Association, 2022, .
2. "Primitive Neuroectodermal Tumors (PNETs)." Childhood Brain Tumor Foundation, 2022, .
3. "Primitive Neuroectodermal Tumors (PNETs) in Adults." Cancer Research UK, 2022, .

Examples of precancerous conditions include:

1. Dysplasia: This is a condition where abnormal cells are present in the tissue, but have not yet invaded surrounding tissues. Dysplasia can be found in organs such as the cervix, colon, and breast.
2. Carcinoma in situ (CIS): This is a condition where cancer cells are present in the tissue, but have not yet invaded surrounding tissues. CIS is often found in organs such as the breast, prostate, and cervix.
3. Atypical hyperplasia: This is a condition where abnormal cells are present in the tissue, but they are not yet cancerous. Atypical hyperplasia can be found in organs such as the breast and uterus.
4. Lobular carcinoma in situ (LCIS): This is a condition where cancer cells are present in the milk-producing glands of the breasts, but have not yet invaded surrounding tissues. LCIS is often found in both breasts and can increase the risk of developing breast cancer.
5. Adenomas: These are small growths on the surface of the colon that can become malignant over time if left untreated.
6. Leukoplakia: This is a condition where thick, white patches develop on the tongue or inside the mouth. Leukoplakia can be a precancerous condition and may increase the risk of developing oral cancer.
7. Oral subsquamous carcinoma: This is a type of precancerous lesion that develops in the mouth and can progress to squamous cell carcinoma if left untreated.
8. Cervical intraepithelial neoplasia (CIN): This is a condition where abnormal cells are present on the surface of the cervix, but have not yet invaded surrounding tissues. CIN can progress to cancer over time if left untreated.
9. Vulvar intraepithelial neoplasia (VIN): This is a condition where abnormal cells are present on the vulva, but have not yet invaded surrounding tissues. VIN can progress to cancer over time if left untreated.
10. Penile intraepithelial neoplasia (PIN): This is a condition where abnormal cells are present on the penis, but have not yet invaded surrounding tissues. PIN can progress to cancer over time if left untreated.

It is important to note that not all precancerous conditions will develop into cancer, and some may resolve on their own without treatment. However, it is important to follow up with a healthcare provider to monitor any changes and determine the best course of treatment.

Also known as: Trophoblastic tumor, placental-site trophoblastic tumor, PSTT (placental-site trophoblastic tumor), and Gestational Trophoblastic Disease (GTD)

Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.

The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.

Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.

Examples of diseases with a known genetic predisposition:

1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.

Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."


Lymphatic metastasis occurs when cancer cells enter the lymphatic vessels and are carried through the lymphatic system to other parts of the body. This can happen through several mechanisms, including:

1. Direct invasion: Cancer cells can invade the nearby lymphatic vessels and spread through them.
2. Lymphatic vessel embolization: Cancer cells can block the flow of lymphatic fluid and cause the formation of a clot-like structure, which can trap cancer cells and allow them to grow.
3. Lymphatic vessel invasion: Cancer cells can infiltrate the walls of lymphatic vessels and spread through them.

Lymphatic metastasis is a common mechanism for the spread of cancer, particularly in the breast, melanoma, and other cancers that have a high risk of lymphatic invasion. The presence of lymphatic metastasis in a patient's body can indicate a more aggressive cancer and a poorer prognosis.

Treatment for lymphatic metastasis typically involves a combination of surgery, chemotherapy, and radiation therapy. Surgery may be used to remove any affected lymph nodes or other tumors that have spread through the lymphatic system. Chemotherapy may be used to kill any remaining cancer cells, while radiation therapy may be used to shrink the tumors and relieve symptoms.

In summary, lymphatic metastasis is a common mechanism for the spread of cancer through the body, particularly in cancers that originate in organs with a high lymphatic drainage. Treatment typically involves a combination of surgery, chemotherapy, and radiation therapy to remove or shrink the tumors and relieve symptoms.

Types of Intestinal Neoplasms:

1. Adenomas: These are benign tumors that grow on the inner lining of the intestine. They can become malignant over time if left untreated.
2. Carcinomas: These are malignant tumors that develop in the inner lining of the intestine. They can be subdivided into several types, including colon cancer and rectal cancer.
3. Lymphoma: This is a type of cancer that affects the immune system and can occur in the intestines.
4. Leiomyosarcomas: These are rare malignant tumors that develop in the smooth muscle layers of the intestine.

Causes and Risk Factors:

The exact cause of intestinal neoplasms is not known, but several factors can increase the risk of developing these growths. These include:

1. Age: The risk of developing intestinal neoplasms increases with age.
2. Family history: Having a family history of colon cancer or other intestinal neoplasms can increase the risk of developing these growths.
3. Inflammatory bowel disease: People with inflammatory bowel diseases, such as ulcerative colitis and Crohn's disease, are at higher risk of developing intestinal neoplasms.
4. Genetic mutations: Certain genetic mutations can increase the risk of developing intestinal neoplasms.
5. Diet and lifestyle factors: A diet high in fat and low in fiber, as well as lack of physical activity, may increase the risk of developing intestinal neoplasms.

Symptoms:

Intestinal neoplasms can cause a variety of symptoms, including:

1. Abdominal pain or discomfort
2. Changes in bowel habits, such as diarrhea or constipation
3. Blood in the stool
4. Weight loss
5. Fatigue
6. Loss of appetite

Diagnosis:

To diagnose intestinal neoplasms, a doctor may perform several tests, including:

1. Colonoscopy: A colonoscope is inserted through the rectum and into the colon to visualize the inside of the colon and detect any abnormal growths.
2. Biopsy: A small sample of tissue is removed from the colon and examined under a microscope for cancer cells.
3. Imaging tests: Such as X-rays, CT scans, or MRI scans to look for any abnormalities in the colon.
4. Blood tests: To check for certain substances in the blood that are associated with intestinal neoplasms.

Treatment:

The treatment of intestinal neoplasms depends on the type and location of the growth, as well as the stage of the cancer. Treatment options may include:

1. Surgery: To remove the tumor and any affected tissue.
2. Chemotherapy: To kill any remaining cancer cells with drugs.
3. Radiation therapy: To kill cancer cells with high-energy X-rays or other forms of radiation.
4. Targeted therapy: To use drugs that target specific molecules on cancer cells to kill them.
5. Immunotherapy: To use drugs that stimulate the immune system to fight cancer cells.

Prognosis:

The prognosis for intestinal neoplasms depends on several factors, including the type and stage of the cancer, the location of the growth, and the effectiveness of treatment. In general, early detection and treatment improve the prognosis, while later-stage cancers have a poorer prognosis.

Complications:

Intestinal neoplasms can cause several complications, including:

1. Obstruction: The tumor can block the normal flow of food through the intestine, leading to abdominal pain and other symptoms.
2. Bleeding: The tumor can cause bleeding in the intestine, which can lead to anemia and other complications.
3. Perforation: The tumor can create a hole in the wall of the intestine, leading to peritonitis (inflammation of the lining of the abdomen) and other complications.
4. Metastasis: The cancer cells can spread to other parts of the body, such as the liver or lungs, and cause further complications.
5. Malnutrition: The tumor can make it difficult for the body to absorb nutrients, leading to malnutrition and other health problems.

Prevention:

There is no sure way to prevent intestinal neoplasms, but there are several steps that may help reduce the risk of developing these types of cancer. These include:

1. Avoiding known risk factors: Avoiding known risk factors such as smoking, excessive alcohol consumption, and a diet high in processed meat can help reduce the risk of developing intestinal neoplasms.
2. Maintaining a healthy diet: Eating a balanced diet that is high in fruits, vegetables, and whole grains can help keep the intestines healthy and may reduce the risk of cancer.
3. Exercise regularly: Regular exercise can help maintain a healthy weight, improve digestion, and may reduce the risk of developing intestinal neoplasms.
4. Managing chronic conditions: Managing chronic conditions such as inflammatory bowel disease, diabetes, and obesity can help reduce the risk of developing intestinal neoplasms.
5. Screening tests: Regular screening tests such as colonoscopy, CT scan, or barium enema can help detect precancerous polyps or early-stage cancer, allowing for early treatment and prevention of advanced disease.

Early detection and diagnosis are crucial for effective treatment and survival rates for intestinal neoplasms. If you have any of the risk factors or symptoms mentioned above, it is essential to consult a doctor as soon as possible. A thorough examination and diagnostic tests can help determine the cause of your symptoms and recommend appropriate treatment.

The prognosis for mantle-cell lymphoma is generally poor, with a five-year survival rate of approximately 40%. Treatment options include chemotherapy, immunotherapy, and autologous stem-cell transplantation. The disease often recurs after initial therapy, and subsequent treatments may be less effective.

Mantle-cell lymphoma can be difficult to distinguish from other types of non-Hodgkin lymphoma, such as follicular lymphoma or diffuse large B-cell lymphoma, and a correct diagnosis is important for determining appropriate treatment.

Slide: Mantle Cell Lymphoma (Image courtesy of Nephron/Wikimedia Commons)

The causes of colorectal neoplasms are not fully understood, but factors such as age, genetics, diet, and lifestyle have been implicated. Symptoms of colorectal cancer can include changes in bowel habits, blood in the stool, abdominal pain, and weight loss. Screening for colorectal cancer is recommended for adults over the age of 50, as it can help detect early-stage tumors and improve survival rates.

There are several subtypes of colorectal neoplasms, including adenomas (which are precancerous polyps), carcinomas (which are malignant tumors), and lymphomas (which are cancers of the immune system). Treatment options for colorectal cancer depend on the stage and location of the tumor, but may include surgery, chemotherapy, radiation therapy, or a combination of these.

Research into the causes and treatment of colorectal neoplasms is ongoing, and there has been significant progress in recent years. Advances in screening and treatment have improved survival rates for patients with colorectal cancer, and there is hope that continued research will lead to even more effective treatments in the future.

T-ALL typically occurs in children and young adults, although it can also occur in older adults. The symptoms of T-ALL can include fever, fatigue, loss of appetite, weight loss, swollen lymph nodes, and an enlarged spleen. If left untreated, T-ALL can progress rapidly and lead to life-threatening complications such as infection, bleeding, and organ failure.

The exact cause of T-ALL is not known, but it is believed to be linked to genetic mutations that occur in the T cells. The diagnosis of T-ALL typically involves a combination of physical examination, blood tests, bone marrow biopsy, and imaging studies such as CT scans or PET scans.

Treatment for T-ALL usually involves a combination of chemotherapy and/or radiation therapy to kill the abnormal T cells. In some cases, bone marrow transplantation may also be recommended. The prognosis for T-ALL depends on several factors, including the age of the patient, the severity of the disease, and the response to treatment. Overall, the survival rate for T-ALL is relatively low, but with intensive treatment, many patients can achieve long-term remission.

There are several types of osteosarcomas, including:

1. High-grade osteosarcoma: This is the most common type of osteosarcoma and tends to grow quickly.
2. Low-grade osteosarcoma: This type of osteosarcoma grows more slowly than high-grade osteosarcoma.
3. Chondrosarcoma: This is a type of osteosarcoma that arises in the cartilage cells of the bone.
4. Ewing's family of tumors: These are rare types of osteosarcoma that can occur in any bone of the body.

The exact cause of osteosarcoma is not known, but certain risk factors may increase the likelihood of developing the disease. These include:

1. Previous radiation exposure
2. Paget's disease of bone
3. Li-Fraumeni syndrome (a genetic disorder that increases the risk of certain types of cancer)
4. Familial retinoblastoma (a rare inherited condition)
5. Exposure to certain chemicals, such as herbicides and industrial chemicals.

Symptoms of osteosarcoma may include:

1. Pain in the affected bone, which may be worse at night or with activity
2. Swelling and redness around the affected area
3. Limited mobility or stiffness in the affected limb
4. A visible lump or mass on the affected bone
5. Fractures or breaks in the affected bone

If osteosarcoma is suspected, a doctor may perform several tests to confirm the diagnosis and determine the extent of the disease. These may include:

1. Imaging studies, such as X-rays, CT scans, or MRI scans
2. Biopsy, in which a sample of tissue is removed from the affected bone and examined under a microscope for cancer cells
3. Blood tests to check for elevated levels of certain enzymes that are produced by osteosarcoma cells
4. Bone scans to look for areas of increased activity or metabolism in the bones.

Explanation: Neoplastic cell transformation is a complex process that involves multiple steps and can occur as a result of genetic mutations, environmental factors, or a combination of both. The process typically begins with a series of subtle changes in the DNA of individual cells, which can lead to the loss of normal cellular functions and the acquisition of abnormal growth and reproduction patterns.

Over time, these transformed cells can accumulate further mutations that allow them to survive and proliferate despite adverse conditions. As the transformed cells continue to divide and grow, they can eventually form a tumor, which is a mass of abnormal cells that can invade and damage surrounding tissues.

In some cases, cancer cells can also break away from the primary tumor and travel through the bloodstream or lymphatic system to other parts of the body, where they can establish new tumors. This process, known as metastasis, is a major cause of death in many types of cancer.

It's worth noting that not all transformed cells will become cancerous. Some forms of cellular transformation, such as those that occur during embryonic development or tissue regeneration, are normal and necessary for the proper functioning of the body. However, when these transformations occur in adult tissues, they can be a sign of cancer.

See also: Cancer, Tumor

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Carcinoma, lobular (also known as lobular carcinoma in situ or LCIS) is a type of cancer that originates in the milk-producing glands (lobules) of the breast. It is a precancerous condition that can progress to invasive breast cancer if left untreated.

Precancerous changes occur within the lobules, leading to an abnormal growth of cells that can eventually break through the basement membrane and invade surrounding tissues. The risk of developing invasive breast cancer is increased in individuals with LCIS, especially if there are multiple areas of involvement.

Diagnosis is typically made through a combination of clinical breast examination, mammography, and histopathological analysis of a biopsy sample. Treatment options for LCIS include close surveillance, surgery, or radiation therapy, depending on the extent of the condition and the individual patient's risk factors.

Medical Specialty:

The medical specialty that deals with carcinoma, lobular is breast surgical oncology. Breast surgical oncologists are trained to diagnose and treat all types of breast cancer, including ductal and lobular carcinomas. They work in collaboration with other healthcare professionals, such as radiation oncologists and medical oncologists, to develop a comprehensive treatment plan for each patient.

Other relevant information:

* Lobular carcinoma in situ (LCIS) is a precancerous condition that affects the milk-producing glands (lobules) of the breast.
* It is estimated that 10-15% of all breast cancers are derived from LCIS.
* Women with a history of LCIS have a higher risk of developing invasive breast cancer in the future.
* The exact cause of LCIS is not fully understood, but it is thought to be linked to hormonal and genetic factors.

Carcinoid tumors are usually found in the appendix, small intestine, rectum, or other parts of the gastrointestinal tract. They can also occur in the lungs, pancreas, or other organs. These tumors tend to grow slowly and often do not cause any symptoms until they have grown quite large.

Carcinoid tumors are diagnosed through a combination of imaging tests such as CT scans, MRI scans, and endoscopies, along with a biopsy to confirm the presence of cancer cells. Treatment for carcinoid tumors depends on the location, size, and stage of the tumor, as well as the patient's overall health. Treatment options may include surgery, chemotherapy, radiation therapy, or a combination of these.

Some of the symptoms that may be associated with carcinoid tumors include:

* Flushing (redness and warmth of the skin)
* Wheezing
* Shortness of breath
* Abdominal pain
* Diarrhea
* Weight loss

Carcinoid tumors are relatively rare, accounting for only about 1% to 5% of all cancer cases. However, they tend to be more common in certain parts of the world, such as North America and Europe. The exact cause of carcinoid tumors is not known, but they are thought to be linked to genetic mutations that occur during fetal development.

Overall, while carcinoid tumors are rare and can be challenging to diagnose and treat, advances in medical technology and cancer research have improved the outlook for patients with these types of tumors. With early detection and appropriate treatment, many people with carcinoid tumors can achieve long-term survival and a good quality of life.

Wilms tumor accounts for about 5% of all childhood kidney cancers and usually affects only one kidney. The cancerous cells in the kidney are called blastema cells, which are immature cells that have not yet developed into normal kidney tissue.

The symptoms of Wilms tumor can vary depending on the size and location of the tumor, but they may include:

* Abdominal pain or swelling
* Blood in the urine
* Fever
* Vomiting
* Weight loss
* Loss of appetite

Wilms tumor is diagnosed through a combination of imaging tests such as ultrasound, CT scans, and MRI scans, and a biopsy to confirm the presence of cancer cells.

Treatment for Wilms tumor typically involves a combination of surgery, chemotherapy, and radiation therapy. The specific treatment plan will depend on the stage and location of the tumor, as well as the age and overall health of the child. In some cases, the affected kidney may need to be removed if the cancer is not completely removable by surgery or if it has spread to other parts of the body.

The prognosis for Wilms tumor has improved significantly over the past few decades due to advances in treatment and early detection. According to the American Cancer Society, the 5-year survival rate for children with Wilms tumor is about 90% if the cancer is diagnosed before it has spread to other parts of the body. However, the cancer can recur in some cases, especially if it has spread to other parts of the body at the time of initial diagnosis.

Overall, while Wilms tumor is a serious and potentially life-threatening condition, with prompt and appropriate treatment, many children with this disease can achieve long-term survival and a good quality of life.

Types of mouth neoplasms include:

1. Oral squamous cell carcinoma (OSCC): This is the most common type of mouth cancer, accounting for about 90% of all cases. It usually occurs on the tongue, lips, or floor of the mouth.
2. Verrucous carcinoma: This type of cancer is slow-growing and typically affects the gums or the outer surface of the tongue.
3. Adenoid cystic carcinoma: This type of cancer is rare and usually affects the salivary glands. It can infiltrate surrounding tissues and cause significant destruction of nearby structures.
4. Mucoepidermoid carcinoma: This type of cancer is relatively rare and occurs most commonly on the tongue or the floor of the mouth. It can be benign or malignant, and its behavior varies depending on the type.
5. Melanotic neuroectodermal tumor: This is a rare type of cancer that affects the melanocytes (pigment-producing cells) in the mouth. It typically occurs in the tongue or the lips.

Symptoms of mouth neoplasms can include:

* A sore or ulcer that does not heal
* A lump or mass in the mouth
* Bleeding or pain in the mouth
* Difficulty swallowing or speaking
* Numbness or tingling in the mouth

Diagnosis of mouth neoplasms typically involves a combination of physical examination, imaging studies (such as X-rays or CT scans), and biopsy. Treatment options vary depending on the type and severity of the cancer, but may include surgery, radiation therapy, chemotherapy, or a combination of these. Early detection and treatment are important for improving outcomes in patients with mouth neoplasms.

There are several types of gliomas, including:

1. Astrocytoma: This is the most common type of glioma, accounting for about 50% of all cases. It arises from the star-shaped cells called astrocytes that provide support and nutrients to the brain's nerve cells.
2. Oligodendroglioma: This type of glioma originates from the oligodendrocytes, which are responsible for producing the fatty substance called myelin that insulates the nerve fibers.
3. Glioblastoma (GBM): This is the most aggressive and malignant type of glioma, accounting for about 70% of all cases. It is fast-growing and often spreads to other parts of the brain.
4. Brain stem glioma: This type of glioma arises in the brain stem, which is responsible for controlling many of the body's vital functions such as breathing, heart rate, and blood pressure.

The symptoms of glioma depend on the location and size of the tumor. Common symptoms include headaches, seizures, weakness or numbness in the arms or legs, and changes in personality, memory, or speech.

Gliomas are diagnosed through a combination of imaging tests such as CT or MRI scans, and tissue biopsy to confirm the presence of cancer cells. Treatment options for glioma depend on the type and location of the tumor, as well as the patient's overall health. Surgery is often the first line of treatment to remove as much of the tumor as possible, followed by radiation therapy and/or chemotherapy to kill any remaining cancer cells.

The prognosis for glioma patients varies depending on the type and location of the tumor, as well as the patient's overall health. In general, the prognosis is better for patients with slow-growing, low-grade tumors, while those with fast-growing, high-grade tumors have a poorer prognosis. Overall, the 5-year survival rate for glioma patients is around 30-40%.

Clear cell adenocarcinomas can occur in various parts of the body, such as the ovary, pancreas, and lung. In general, clear cell adenocarcinomas tend to grow more slowly than other types of cancer and are less aggressive. However, they can still be malignant and may require treatment.

The prognosis for clear cell adenocarcinoma depends on various factors, such as the stage of the cancer (how far it has spread) and the specific location of the tumor. In general, the prognosis for clear cell adenocarcinoma is good if the cancer is caught early and treated appropriately. However, if the cancer has spread to other parts of the body, the prognosis may be poorer.

There are several treatment options for clear cell adenocarcinoma, including surgery, chemotherapy, radiation therapy, and targeted therapy. The specific treatment plan will depend on the stage and location of the cancer, as well as other individual factors such as age and overall health.

In summary, clear cell adenocarcinoma is a type of cancer that begins in glandular cells and has clear cells. It can occur in various parts of the body and tends to grow slowly, but it can still be malignant and require treatment. The prognosis for clear cell adenocarcinoma depends on various factors, and there are several treatment options available.

Types of Esophageal Neoplasms:

1. Barrett's Esophagus: This is a precancerous condition that occurs when the cells lining the esophagus undergo abnormal changes, increasing the risk of developing esophageal cancer.
2. Adenocarcinoma: This is the most common type of esophageal cancer, accounting for approximately 70% of all cases. It originates in the glands that line the esophagus.
3. Squamous Cell Carcinoma: This type of cancer accounts for about 20% of all esophageal cancers and originates in the squamous cells that line the esophagus.
4. Other rare types: Other rare types of esophageal neoplasms include lymphomas, sarcomas, and carcinoid tumors.

Causes and Risk Factors:

1. Gastroesophageal reflux disease (GERD): Long-standing GERD can lead to the development of Barrett's esophagus, which is a precancerous condition that increases the risk of developing esophageal cancer.
2. Obesity: Excess body weight is associated with an increased risk of developing esophageal cancer.
3. Diet: A diet high in processed meats and low in fruits and vegetables may increase the risk of developing esophageal cancer.
4. Alcohol consumption: Heavy alcohol consumption is a known risk factor for esophageal cancer.
5. Smoking: Cigarette smoking is a major risk factor for esophageal cancer.
6. Family history: Having a family history of esophageal cancer or other cancers may increase an individual's risk.
7. Age: The risk of developing esophageal cancer increases with age, with most cases occurring in people over the age of 50.
8. Other medical conditions: Certain medical conditions, such as achalasia, may increase the risk of developing esophageal cancer.

Symptoms and Diagnosis:

1. Dysphagia (difficulty swallowing): This is the most common symptom of esophageal cancer, and can be caused by a narrowing or blockage of the esophagus due to the tumor.
2. Chest pain or discomfort: Pain in the chest or upper back can be a symptom of esophageal cancer.
3. Weight loss: Losing weight without trying can be a symptom of esophageal cancer.
4. Coughing or hoarseness: If the tumor is obstructing the airway, it can cause coughing or hoarseness.
5. Fatigue: Feeling tired or weak can be a symptom of esophageal cancer.
6. Diagnosis: A diagnosis of esophageal cancer is typically made through a combination of endoscopy, imaging tests (such as CT scans), and biopsies.

Treatment Options:

1. Surgery: Surgery is the primary treatment for esophageal cancer, and can involve removing the tumor and some surrounding tissue, or removing the entire esophagus and replacing it with a section of stomach or intestine.
2. Chemotherapy: Chemotherapy involves using drugs to kill cancer cells, and is often used in combination with surgery to treat esophageal cancer.
3. Radiation therapy: Radiation therapy uses high-energy X-rays to kill cancer cells, and can be used alone or in combination with surgery or chemotherapy.
4. Targeted therapy: Targeted therapy drugs are designed to target specific molecules that are involved in the growth and spread of cancer cells, and can be used in combination with other treatments.

Prognosis and Survival Rate:

1. The prognosis for esophageal cancer is generally poor, with a five-year survival rate of around 20%.
2. Factors that can improve the prognosis include early detection, small tumor size, and absence of spread to lymph nodes or other organs.
3. The overall survival rate for esophageal cancer has not improved much over the past few decades, but advances in treatment have led to a slight increase in survival time for some patients.

Lifestyle Changes and Prevention:

1. Avoiding tobacco and alcohol: Tobacco and alcohol are major risk factors for esophageal cancer, so avoiding them can help reduce the risk of developing the disease.
2. Maintaining a healthy diet: Eating a balanced diet that is high in fruits, vegetables, and whole grains can help protect against esophageal cancer.
3. Managing obesity: Obesity is a risk factor for esophageal cancer, so maintaining a healthy weight through diet and exercise can help reduce the risk of developing the disease.
4. Reducing exposure to pollutants: Exposure to certain chemicals and pollutants, such as pesticides and asbestos, has been linked to an increased risk of esophageal cancer. Avoiding these substances can help reduce the risk of developing the disease.
5. Getting regular screening: Regular screening for Barrett's esophagus, a precancerous condition that can develop in people with gastroesophageal reflux disease (GERD), can help detect and treat esophageal cancer early, when it is most treatable.

Current Research and Future Directions:

1. Targeted therapies: Researchers are working on developing targeted therapies that can specifically target the genetic mutations that drive the growth of esophageal cancer cells. These therapies may be more effective and have fewer side effects than traditional chemotherapy.
2. Immunotherapy: Immunotherapy, which uses the body's immune system to fight cancer, is being studied as a potential treatment for esophageal cancer. Researchers are working on developing vaccines and other immunotherapies that can help the body recognize and attack cancer cells.
3. Precision medicine: With the help of advanced genomics and precision medicine, researchers are working to identify specific genetic mutations that drive the growth of esophageal cancer in each patient. This information can be used to develop personalized treatment plans that are tailored to the individual patient's needs.
4. Early detection: Researchers are working on developing new methods for early detection of esophageal cancer, such as using machine learning algorithms to analyze medical images and detect signs of cancer at an early stage.
5. Lifestyle modifications: Studies have shown that lifestyle modifications, such as quitting smoking and maintaining a healthy diet, can help reduce the risk of developing esophageal cancer. Researchers are working on understanding the specific mechanisms by which these modifications can help prevent the disease.

In conclusion, esophageal cancer is a complex and aggressive disease that is often diagnosed at an advanced stage. However, with advances in technology, research, and treatment options, there is hope for improving outcomes for patients with this disease. By understanding the risk factors, early detection methods, and current treatments, as well as ongoing research and future directions, we can work towards a future where esophageal cancer is more manageable and less deadly.

Benign pleural neoplasms include:

1. Pleomorphic adenoma: A rare, slow-growing tumor that usually occurs in the soft tissues of the chest wall.
2. Pneumoschisis: A condition where there is a tear or separation in the membrane that lines the lung, which can cause air to leak into the pleural space and create a benign tumor.
3. Pleural plaques: Calcified deposits that form in the pleura as a result of inflammation or injury.

Malignant pleural neoplasms include:

1. Mesothelioma: A rare and aggressive cancer that originates in the pleura, usually caused by exposure to asbestos.
2. Lung cancer: Cancer that spreads to the pleura from another part of the body, such as the lungs.
3. Metastatic tumors: Tumors that have spread to the pleura from another part of the body, such as the breast or colon.

Pleural neoplasms can cause a variety of symptoms, including chest pain, shortness of breath, coughing, and fatigue. Diagnosis is typically made through a combination of imaging tests, such as CT scans and PET scans, and a biopsy to confirm the presence of cancerous cells. Treatment options for pleural neoplasms depend on the type and stage of the tumor, and may include surgery, chemotherapy, and radiation therapy.

This definition of 'Neoplasm Recurrence, Local' is from the Healthcare Professionals edition of the Merriam-Webster Medical Dictionary, copyright © 2007 by Merriam-Webster, Inc.

A thymus neoplasm is a type of cancer that originates in the thymus gland, which is located in the chest behind the sternum and is responsible for the development and maturation of T-lymphocytes (T-cells) of the immune system.

Types of Thymus Neoplasms

There are several types of thymus neoplasms, including:

1. Thymoma: A slow-growing tumor that is usually benign but can sometimes be malignant.
2. Thymic carcinoma: A more aggressive type of cancer that is less common than thymoma.
3. Thymic lymphoma: A type of cancer that arises from the T-cells in the thymus gland and can be either B-cell or T-cell derived.

Symptoms of Thymus Neoplasms

The symptoms of thymus neoplasms can vary depending on the location and size of the tumor, but they may include:

1. Chest pain or discomfort
2. Coughing or shortness of breath
3. Fatigue or fever
4. Swelling in the neck or face
5. Weight loss or loss of appetite

Diagnosis of Thymus Neoplasms

The diagnosis of a thymus neoplasm typically involves a combination of imaging tests such as chest X-rays, computed tomography (CT) scans, and positron emission tomography (PET) scans, as well as a biopsy to confirm the presence of cancer cells.

Treatment of Thymus Neoplasms

The treatment of thymus neoplasms depends on the type and stage of the cancer, but may include:

1. Surgery to remove the tumor
2. Radiation therapy to kill any remaining cancer cells
3. Chemotherapy to destroy cancer cells
4. Targeted therapy to specific molecules involved in the growth and progression of the cancer.

Prognosis of Thymus Neoplasms

The prognosis for thymus neoplasms depends on the type and stage of the cancer at the time of diagnosis. In general, the earlier the cancer is detected and treated, the better the prognosis.

Prevention of Thymus Neoplasms

There is no known way to prevent thymus neoplasms, as they are rare and can occur in people of all ages. However, early detection and treatment of the cancer can improve the chances of a successful outcome.

Current Research on Thymus Neoplasms

Researchers are currently studying new treatments for thymus neoplasms, such as targeted therapies and immunotherapy, which use the body's own immune system to fight cancer. Additionally, researchers are working to develop better diagnostic tests to detect thymus neoplasms at an earlier stage, when they are more treatable.

Conclusion

Thymus neoplasms are rare and complex cancers that require specialized care and treatment. While the prognosis for these cancers can be challenging, advances in diagnosis and treatment have improved outcomes for many patients. Researchers continue to study new treatments and diagnostic tools to improve the chances of a successful outcome for those affected by thymus neoplasms.

Some common types of bone neoplasms include:

* Osteochondromas: These are benign tumors that grow on the surface of a bone.
* Giant cell tumors: These are benign tumors that can occur in any bone of the body.
* Chondromyxoid fibromas: These are rare, benign tumors that develop in the cartilage of a bone.
* Ewing's sarcoma: This is a malignant tumor that usually occurs in the long bones of the arms and legs.
* Multiple myeloma: This is a type of cancer that affects the plasma cells in the bone marrow.

Symptoms of bone neoplasms can include pain, swelling, or deformity of the affected bone, as well as weakness or fatigue. Treatment options depend on the type and location of the tumor, as well as the severity of the symptoms. Treatment may involve surgery, radiation therapy, chemotherapy, or a combination of these.

Pancreatic adenocarcinoma is the most common type of malignant pancreatic neoplasm and accounts for approximately 85% of all pancreatic cancers. It originates in the glandular tissue of the pancreas and has a poor prognosis, with a five-year survival rate of less than 10%.

Pancreatic neuroendocrine tumors (PNETs) are less common but more treatable than pancreatic adenocarcinoma. These tumors originate in the hormone-producing cells of the pancreas and can produce excess hormones that cause a variety of symptoms, such as diabetes or high blood sugar. PNETs are classified into two main types: functional and non-functional. Functional PNETs produce excess hormones and are more aggressive than non-functional tumors.

Other rare types of pancreatic neoplasms include acinar cell carcinoma, ampullary cancer, and oncocytic pancreatic neuroendocrine tumors. These tumors are less common than pancreatic adenocarcinoma and PNETs but can be equally aggressive and difficult to treat.

The symptoms of pancreatic neoplasms vary depending on the type and location of the tumor, but they often include abdominal pain, weight loss, jaundice, and fatigue. Diagnosis is typically made through a combination of imaging tests such as CT scans, endoscopic ultrasound, and biopsy. Treatment options for pancreatic neoplasms depend on the type and stage of the tumor but may include surgery, chemotherapy, radiation therapy, or a combination of these.

Prognosis for patients with pancreatic neoplasms is generally poor, especially for those with advanced stages of disease. However, early detection and treatment can improve survival rates. Research into the causes and mechanisms of pancreatic neoplasms is ongoing, with a focus on developing new and more effective treatments for these devastating diseases.




Multiple primary neoplasms can arise in different organs or tissues throughout the body, such as the breast, colon, prostate, lung, or skin. Each tumor is considered a separate entity, with its own unique characteristics, including size, location, and aggressiveness. Treatment for multiple primary neoplasms typically involves surgery, chemotherapy, radiation therapy, or a combination of these modalities.

The diagnosis of multiple primary neoplasms can be challenging due to the overlapping symptoms and radiological findings between the different tumors. Therefore, it is essential to have a thorough clinical evaluation and diagnostic workup to rule out other possible causes of the symptoms and confirm the presence of multiple primary neoplasms.

Multiple primary neoplasms are more common than previously thought, with an estimated prevalence of 2% to 5% in some populations. The prognosis for patients with multiple primary neoplasms varies depending on the location, size, and aggressiveness of each tumor, as well as the patient's overall health status.

It is important to note that multiple primary neoplasms are not the same as metastatic cancer, in which a single primary tumor spreads to other parts of the body. Multiple primary neoplasms are distinct tumors that arise independently from different primary sites within the body.

Some common types of adrenal gland neoplasms include:

1. Adrenocortical carcinoma: A rare and aggressive malignancy that arises in the outer layer of the adrenal cortex.
2. Adrenocortical adenoma: A benign tumor that arises in the outer layer of the adrenal cortex.
3. Pheochromocytoma: A rare tumor that arises in the inner part of the adrenal medulla and produces excessive amounts of hormones such as epinephrine and norepinephrine.
4. Paraganglioma: A rare tumor that arises in the sympathetic nervous system, often near the adrenal glands.

Symptoms of adrenal gland neoplasms can include:

* Weight gain or weight loss
* High blood pressure
* Fatigue
* Abdominal pain
* Headache
* Nausea and vomiting
* Palpitations

Diagnosis of adrenal gland neoplasms typically involves imaging tests such as computed tomography (CT) scans, magnetic resonance imaging (MRI), and positron emission tomography (PET) scans, as well as hormone level assessments. Treatment options vary depending on the type and size of the tumor, and may include surgery, chemotherapy, and hormone therapy.

1. Tumor size and location: Larger tumors that have spread to nearby tissues or organs are generally considered more invasive than smaller tumors that are confined to the original site.
2. Cellular growth patterns: The way in which cancer cells grow and divide can also contribute to the overall invasiveness of a neoplasm. For example, cells that grow in a disorganized or chaotic manner may be more likely to invade surrounding tissues.
3. Mitotic index: The mitotic index is a measure of how quickly the cancer cells are dividing. A higher mitotic index is generally associated with more aggressive and invasive cancers.
4. Necrosis: Necrosis, or the death of cells, can be an indication of the level of invasiveness of a neoplasm. The presence of significant necrosis in a tumor is often a sign that the cancer has invaded surrounding tissues and organs.
5. Lymphovascular invasion: Cancer cells that have invaded lymphatic vessels or blood vessels are considered more invasive than those that have not.
6. Perineural invasion: Cancer cells that have invaded nerve fibers are also considered more invasive.
7. Histological grade: The histological grade of a neoplasm is a measure of how abnormal the cancer cells look under a microscope. Higher-grade cancers are generally considered more aggressive and invasive than lower-grade cancers.
8. Immunohistochemical markers: Certain immunohistochemical markers, such as Ki-67, can be used to evaluate the proliferative activity of cancer cells. Higher levels of these markers are generally associated with more aggressive and invasive cancers.

Overall, the degree of neoplasm invasiveness is an important factor in determining the likelihood of the cancer spreading to other parts of the body (metastasizing) and in determining the appropriate treatment strategy for the patient.

Malignant prostatic neoplasms are cancerous tumors that can be aggressive and spread to other parts of the body (metastasize). The most common type of malignant prostatic neoplasm is adenocarcinoma of the prostate, which accounts for approximately 95% of all prostate cancers. Other types of malignant prostatic neoplasms include sarcomas and small cell carcinomas.

Prostatic neoplasms can be diagnosed through a variety of tests such as digital rectal examination (DRE), prostate-specific antigen (PSA) test, imaging studies (ultrasound, CT scan or MRI), and biopsy. Treatment options for prostatic neoplasms depend on the type, stage, and grade of the tumor, as well as the patient's age and overall health. Treatment options can include active surveillance, surgery (robotic-assisted laparoscopic prostatectomy or open prostatectomy), radiation therapy (external beam radiation therapy or brachytherapy), and hormone therapy.

In summary, Prostatic Neoplasms are tumors that occur in the prostate gland, which can be benign or malignant. The most common types of malignant prostatic neoplasms are adenocarcinoma of the prostate, and other types include sarcomas and small cell carcinomas. Diagnosis is done through a variety of tests, and treatment options depend on the type, stage, and grade of the tumor, as well as the patient's age and overall health.

In LLCB, the B cells undergo a mutation that causes them to become cancerous and multiply rapidly. This can lead to an overproduction of these cells in the bone marrow, causing the bone marrow to become crowded and unable to produce healthy red blood cells, platelets, and white blood cells.

LLCB is typically a slow-growing cancer, and it can take years for symptoms to develop. However, as the cancer progresses, it can lead to a range of symptoms including fatigue, weakness, weight loss, fever, night sweats, and swollen lymph nodes.

LLCB is typically diagnosed through a combination of physical examination, blood tests, bone marrow biopsy, and imaging studies such as X-rays or CT scans. Treatment options for LLCB include chemotherapy, radiation therapy, and in some cases, stem cell transplantation.

Overall, while LLCB is a serious condition, it is typically slow-growing and can be managed with appropriate treatment. With current treatments, many people with LLCB can achieve long-term remission and a good quality of life.

There are several subtypes of RCC, including clear cell, papillary, chromophobe, and collecting duct carcinoma. The most common subtype is clear cell RCC, which accounts for approximately 70-80% of all RCC cases.

RCC can be difficult to diagnose as it may not cause any symptoms in its early stages. However, some common symptoms of RCC include blood in the urine (hematuria), pain in the flank or abdomen, weight loss, and fatigue. RCC is typically diagnosed through a combination of imaging studies such as computed tomography (CT) scans, magnetic resonance imaging (MRI), and positron emission tomography (PET) scans, along with a biopsy to confirm the presence of cancer cells.

Treatment for RCC depends on the stage and location of the cancer. Surgery is the primary treatment for localized RCC, and may involve a partial or complete nephrectomy (removal of the affected kidney). For more advanced cases, treatment may involve a combination of surgery and systemic therapies such as targeted therapy or immunotherapy. Targeted therapy drugs, such as sunitinib and pazopanib, work by blocking specific molecules that promote the growth and spread of cancer cells. Immunotherapy drugs, such as checkpoint inhibitors, work by stimulating the body's immune system to attack cancer cells.

The prognosis for RCC is generally good if the cancer is detected early and treated promptly. However, the cancer can be aggressive and may spread to other parts of the body (metastasize) if left untreated. The 5-year survival rate for RCC is about 73% for patients with localized disease, but it drops to about 12% for those with distant metastases.

There are several risk factors for developing RCC, including:

* Age: RCC is more common in people over the age of 50.
* Gender: Men are slightly more likely to develop RCC than women.
* Family history: People with a family history of RCC or other kidney diseases may be at increased risk.
* Chronic kidney disease: Patients with chronic kidney disease are at higher risk for developing RCC.
* Hypertension: High blood pressure is a common risk factor for RCC.
* Smoking: Smoking may increase the risk of developing RCC.
* Obesity: Being overweight or obese may increase the risk of developing RCC.

There are several complications associated with RCC, including:

* Metastasis: RCC can spread to other parts of the body, such as the lymph nodes, liver, and bones.
* Hematuria: Blood in the urine is a common complication of RCC.
* Pain: RCC can cause pain in the flank or abdomen.
* Fatigue: RCC can cause fatigue and weakness.
* Weight loss: RCC can cause weight loss and loss of appetite.

There are several treatment options for RCC, including:

* Surgery: Surgery is often the first line of treatment for RCC that is localized and has not spread to other parts of the body.
* Ablation: Ablation therapies, such as cryotherapy or radiofrequency ablation, can be used to destroy the tumor.
* Targeted therapy: Targeted therapies, such as sunitinib or pazopanib, can be used to slow the growth of the tumor.
* Immunotherapy: Immunotherapies, such as checkpoint inhibitors, can be used to stimulate the immune system to attack the tumor.
* Chemotherapy: Chemotherapy may be used in combination with other treatments or as a last resort for patients with advanced RCC.

The prognosis for RCC varies depending on the stage and location of the cancer, but in general, the earlier the cancer is detected and treated, the better the outcome. According to the American Cancer Society, the 5-year survival rate for RCC is about 73% for patients with localized disease (cancer that has not spread beyond the kidney) and about 12% for patients with distant disease (cancer that has spread to other parts of the body).

* Peripheral T-cell lymphoma (PTCL): This is a rare type of T-cell lymphoma that can develop in the skin, lymph nodes, or other organs.
* Cutaneous T-cell lymphoma (CTCL): This is a type of PTCL that affects the skin and can cause lesions, rashes, and other skin changes.
* Anaplastic large cell lymphoma (ALCL): This is a rare subtype of PTCL that can develop in the lymph nodes, spleen, or bone marrow.
* Adult T-cell leukemia/lymphoma (ATLL): This is a rare and aggressive subtype of PTCL that is caused by the human T-lymphotropic virus type 1 (HTLV-1).

Symptoms of T-cell lymphoma can include:

* Swollen lymph nodes
* Fever
* Fatigue
* Weight loss
* Night sweats
* Skin lesions or rashes

Treatment options for T-cell lymphoma depend on the subtype and stage of the cancer, but may include:

* Chemotherapy
* Radiation therapy
* Immunotherapy
* Targeted therapy

Prognosis for T-cell lymphoma varies depending on the subtype and stage of the cancer, but in general, the prognosis for PTCL is poorer than for other types of non-Hodgkin lymphoma. However, with prompt and appropriate treatment, many people with T-cell lymphoma can achieve long-term remission or even be cured.

Array comparative genomic hybridization (also microarray-based comparative genomic hybridization, matrix CGH, array CGH, aCGH) ... Comparative genomic hybridization. Molecular Pathology 52:243-251. Pinkel D, Albertson DG (2005) Comparative genomic ... Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes, Chromosomes and Cancer 20:399 ... Comparative genomic hybridization (CGH) is a molecular cytogenetic method for analysing copy number variations (CNVs) relative ...
Comparative genomic hybridization can be described as a method that uses FISH in a parallel manner with the comparison of the ... Similar to comparative genomic hybridization, the probe mixture for the secondary colors is created by mixing the correct ratio ... "Comparative Genomic Hybridization". McGraw-Hill Dictionary of Scientific and Technical Terms. Retrieved September 19, 2013. ... Wikimedia Commons has media related to Fluorescence in situ hybridization. Fluorescent+in+Situ+Hybridization at the US National ...
Comparative genomic hybridization (CGH), derived from FISH, is used to compare variations in copy number between a biological ... Array comparative genomic hybridization (aCGH) allows CGH to be performed without cell culture and isolation. Instead, it is ... Pinkel D, Albertson DG (2005). "Comparative genomic hybridization". Annual Review of Genomics and Human Genetics. 6 (1): 331-54 ... Banerjee D (15 January 2013). Array comparative genomic hybridization : protocols and applications. New York: Humana Press. pp ...
... including array-based comparative genomic hybridization (CGH), fluorescence in situ hybridization (FISH) analysis, karyotyping ... "Microarray-based Comparative Genomic Hybridization (aCGH) , Learn Science at Scitable". www.nature.com. Retrieved 2022-03-24. " ... The mutation for Nabulus syndrome is a microdeletion mutation in the long arm of chromosome 8 (8q22.1). The specific genomic ... and the hybridization of the two resulting samples to metaphase chromosomes. Then the differently colored fluorescent signals ...
"Array comparative genomic hybridization in male infertility". Human Reproduction. 27 (3): 921-9. doi:10.1093/humrep/der440. ...
Cheung SW, Bi W (June 2018). "Novel applications of array comparative genomic hybridization in molecular diagnostics". Expert ... Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An ... Elective genetic and genomic testing will continue to evolve as the cost of genetic testing technology falls and patients ... Given the ever-increasing number of elective genetic and genomic tests offered and the wide variety of issues raised by these ...
... comparative genomic hybridization and with high-resolution array-based tests based on array comparative genomic hybridization ( ... Bassem A. Bejjani and Lisa G. Shaffer (2006). "Application of Array-Based Comparative Genomic Hybridization to Clinical ... Copy number variation can be detected with various types of tests such as fluorescent in situ hybridization, ...
August 2010). "Genomic alterations detected by comparative genomic hybridization in ovarian endometriomas". Brazilian Journal ...
... or microarray-based comparative genomic hybridization (i.e. array CGH). Because of mosaicism, testing an individual's ... This method has detected the sSMC and therefore diagnosed a fetus as having PKS based on genomic analyses of fetal skin ...
Seven astroblastoma cases of comparative genomic hybridization, a molecular technique analyzing chromosomal changes in DNA ... "Astroblastoma: Clinicopathologic Features and Chromosomal Abnormalities Defined by Comparative Genomic Hybridization." Brain ... These genomic features are responsible for widespread proliferation, tumorigenesis, and deregulation of pathways associated ...
... detected both by comparative genomic hybridization (CGH), and array CGH,) and karyotypic variations including chromosome ... "Interglandular cytogenetic heterogeneity detected by comparative genomic hybridization in pancreatic cancer". Cancer Research. ... "Inferring tree models for oncogenesis from comparative genome hybridization data". Journal of Computational Biology. 6 (1): 37- ... November 2007). "The genomic landscapes of human breast and colorectal cancers". Science. 318 (5853): 1108-1113. Bibcode: ...
"Bladder cancer stage and outcome by array-based comparative genomic hybridization". Clinical Cancer Research. 11 (19 Pt 1): ...
"Preimplantation genetic diagnosis and chromosome analysis of blastomeres using comparative genomic hybridization". Human ... ISBN 978-0-87893-258-0. Kardong, Kenneth V. (2006). Vertebrates: Comparative Anatomy, Function, Evolution (4th ed.). McGraw- ... Integrative and Comparative Biology. 38 (4): 621-33. doi:10.1093/icb/38.4.621. JSTOR 4620189. Freeman, Gary; Lundelius, Judith ...
Methods have included whole exome sequencing and comparative genomic hybridization (for microdeletions). Sanger sequencing can ...
"Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders". Genetics in Medicine. 16 ... June 2016). "Genomic characterization of primary central nervous system lymphoma". Acta Neuropathologica. 131 (6): 865-75. doi: ...
... using oligo-microarray comparative genomic hybridization (aCGH)". Am. J. Med. Genet. A. 149A (7): 1431-7. doi:10.1002/ajmg.a. ... Heard PL, Carter EM, Crandall AC, Sebold C, Hale DE, Cody JD (July 2009). "High resolution genomic analysis of 18q- ...
... using oligo-microarray comparative genomic hybridization (aCGH)". Am. J. Med. Genet. A 149A (7): 1431-7. Yanoff et al (1970). ... Heard PL, Carter EM, Crandall AC, Sebold C, Hale DE, Cody JD (July 2009). "High resolution genomic analysis of 18q- ...
February 2011). "High-resolution comparative genomic hybridization of inflammatory breast cancer and identification of ...
Hu, Wei-Shou (2007). "Comparative genomic hybridizations reveal absence of large Streptomyces colicolor genomic islands in ... He recently led an industrial consortium to embark on genomic research on Chinese hamster ovary cells, the main workhorse of ... biomanufacturing, and to promote post-genomic research in cell bioprocessing. His research focuses on the field of cell culture ...
Microarray comparative genomic hybridization (array CGH) shows changes in small amounts DNA on chromosomes. Therapy can help ... Techniques used to diagnose this disorder are fluorescence in situ hybridization (FISH) and microarrays. FISH uses fluorescent ...
"Characterization of the Genome Composition of Bartonella koehlerae by Microarray Comparative Genomic Hybridization Profiling". ...
"Detection and mapping of amplified DNA sequences in breast cancer by comparative genomic hybridization". Proceedings of the ... at 20q13.2 in tissue samples of human gastric adenocarcinomas by high-resolution microarray comparative genomic hybridization ... c-MYC and ZNF217 gene amplification during breast cancer progression using fluorescence in situ hybridization". Oncology ...
... and amplification of genomic material in rhabdomyosarcoma analyzed by comparative genomic hybridization". Cancer Research. 56 ( ...
... can be detected through array comparative genomic hybridization (aCGH).[citation needed] Some symptoms ...
Using array comparative genomic hybridization, two regions were identified as deleted on 13q31-qter. These were 20.38 Mb in ...
CNVs are detected by fluorescence in situ hybridization (FISH) or comparative genomic hybridization (CGH). To detect the ... specific breakpoints at which a deletion occurs, or to detect genomic lesions introduced by a duplication or amplification ...
Genomic balance in Xp22 and Xq26 may also be analyzed through array comparative genomic hybridization. Due to the high ...
A Comparative Genomic Hybridization Study". Modern Pathology. 13 (10): 1092-6. doi:10.1038/modpathol.3880203. PMID 11048803. ... Molecular cytogenetic characterization by use of spectral karyotyping and comparative genomic hybridization". International ...
Comprehensive chromosome analysis methods include array-comparative genomic hybridization (aCGH), quantitative PCR and SNP ... A major drawback of genomic profiling for embryo quality is that the results generally rely on the assessment of a single cell ...
Tabor HK, Cho MK (September 2007). "Ethical implications of array comparative genomic hybridization in complex phenotypes: ... Genomic imprinting models have been proposed; one of their strengths is explaining the high male-to-female ratio in ASD. One ... The genomic difference between males and females is one mechanism that leads to the higher incidence of ASD in males. Known ... Hogart A, Wu D, LaSalle JM, Schanen NC (May 2010). "The comorbidity of autism with the genomic disorders of chromosome 15q11.2- ...
natural hybridization either in the Izu peninsula, on Izu-oshima Island or on Cheju-do Island in Korea, although the ... 2017). "Genomic clues to the parental origin of the wild flowering cherry Prunus yedoensis var. nudiflora (Rosaceae)". Plant ... conducted comparative phylogenetic analyses by generating the phylogeny (MP) and haplotype network (TCS) based on highly ... 2016). "Comparative phylogenetic relationship between wild and cultivated Prunus yedoensis Matsum. (Rosaceae) with regard to ...
Much is still to be known about these genomic parasites but it is clear they play a significant role within eukaryotic ... Chalopin D, Naville M, Plard F, Galiana D, Volff JN (January 2015). "Comparative analysis of transposable elements highlights ... The genes that had high hybridization E-values were genes particularly involved in metabolic and signaling pathways. Almost all ... The study involved a computational analysis in which the genomic distribution and activity of the Anamnia V-SINEs in Danio ...
Advances in genetic testing and more widespread use of Array Comparative Genomic Hybridization has led to increased diagnosis ...
... techniques such as subtelomeric fluorescent in-situ hybridization analysis and array comparative genomic hybridization (aCGH) ... Carmona-Mora, P; Molina, J; Encina, CA; Walz, K (June 2009). "Mouse models of genomic syndromes as tools for understanding the ... Lupski, James R.; Stankiewicz, Pawel (December 2005). "Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed ...
Comparative genomic hybridization identified the following chromosomal abnormalities: deletions of 6q23 and 13q14, and gains of ... "The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations ... "High-Resolution Genomic Analysis in Waldenström's Macroglobulinemia Identifies Disease-Specific and Common Abnormalities with ...
... in comparison to other comparative genomic hybridization (CGH) techniques, has the advantage of reducing the complexity of a ... genome with a restriction enzyme which highly increases the efficiency of genomic fragment hybridization to a microarray. In ... Wigler and Lucito currently run laboratories at CSHL using ROMA to explore genomic copy number variation in cancer and other ... in 2004 that these CNPs give rise to human genomic variation and may contribute to our phenotypic differences.[citation needed ...
Unlike genomic DNA, it offered advantages in that it did not undergo recombination. The process of recombination, if frequent ... Comparative morphology based on fossils could be biased by different rates of change. Realization that in DNA there are ... Two techniques, mtDNA and hybridization converge on a single answer, chimps as a species are most closely related to humans. ... Several papers on genomic mtDNA have been published; there is considerable variability in the rate of evolution, and rate ...
"Customized oligonucleotide array-based comparative genomic hybridization as a clinical assay for genomic profiling of chronic ... such as array comparative genomic hybridization (arrayCGH) and SNP arrays. Conceptually, the arrays are composed of hundreds to ... Some consider all platforms to be a type of array comparative genomic hybridization (arrayCGH), while others reserve that term ... The main methods used for creating virtual karyotypes are array-comparative genomic hybridization and SNP arrays. A karyotype ( ...
DeRisi, JL; Iyer, VR; Brown, PO (1997). "Exploring the metabolic and genetic control of gene expression on a genomic scale". ... Llinas, Manuel; Bozdech, Zbynek; Wong, Edith D.; Adai, Alex T.; Derisi, Joseph L. (2006), "Comparative whole genome ... and pioneering virus discovery using gene hybridization array and DNA sequencing technologies. DeRisi uses microarrays ...
... information obtained from next generation sequencing techniques and ultra-high-resolution comparative genomic hybridization. ... The Integrated Archive of Short-Read and Array (TIARA) database contains personal genomic ...
Loss of function mutations in the TERC genomic locus have been associated with a variety of degenerative diseases. Mutations in ... "Entrez Gene: TERC telomerase RNA component". Fragnet L, Kut E, Rasschaert D (June 2005). "Comparative functional study of the ... to chromosome 3 by fluorescence in situ hybridization and mouse chromosome painting". Genomics. 41 (2): 293-4. doi:10.1006/geno ... hTR is directly transcribed from a dedicated promoter site located at genomic locus 3q26.2 by RNA polymerase II. Mature hTR is ...
... multiple genomic regions implicated in domestic cat stripes and spots". Genetics. 184 (1): 267-75. doi:10.1534/genetics. ... This phenomenon is purported to have been inherited from the hybridization of the domestic cat to the jungle cat (Felis chaus ... "Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication". ...
The ORCTL3 gene spans around 12 kb of genomic DNA and consists of ten exons. It was shown that the 2.4 kb transcript of this ... "A comparative assessment of antiproliferative properties of resveratrol and ethanol leaf extract of Anogeissus leiocarpus (DC) ... was discovered in the mid-1900s using subtraction hybridization. mda-7 is classified in the interleukin IL-10 family because of ...
2010). "Genomic subtypes of breast cancer identified by array-comparative genomic hybridization display distinct molecular and ... April 2012). "Genomic analysis identifies unique signatures predictive of brain, lung, and liver relapse". Breast Cancer ... HER2/neu status can be analyzed by fluorescent in-situ hybridization (FISH) assays. Some commentators prefer this approach, ... February 2012). "Breast Cancer Special Feature: Comparative oncogenomics identifies breast tumors enriched in functional tumor- ...
Touzet H (2007). Comparative analysis of RNA genes: the caRNAc software. Methods in Molecular Biology. Vol. 395. pp. 465-474. ... Bernhart SH, Hofacker IL (2009). "From consensus structure prediction to RNA gene finding". Brief Funct Genomic Proteomic. 8 (6 ... Zuker M (2003). "Mfold web server for nucleic acid folding and hybridization prediction". Nucleic Acids Research. 31 (13): 3406 ... Tertiary structure can be predicted from the sequence, or by comparative modeling (when the structure of a homologous sequence ...
Warthmann N, Das S, Lanz C, Weigel D (May 2008). "Comparative analysis of the MIR319a microRNA locus in Arabidopsis and related ... Lagendijk AK, Moulton JD, Bakkers J (June 2012). "Revealing details: whole mount microRNA in situ hybridization protocol for ... "Modulation of mismatch repair and genomic stability by miR-155". Proceedings of the National Academy of Sciences of the United ... The locked conformation of LNA results in enhanced hybridization properties and increases sensitivity and selectivity, making ...
January 2009). "Customized oligonucleotide array-based comparative genomic hybridization as a clinical assay for genomic ... September 2008). "Whole-genome scanning by array comparative genomic hybridization as a clinical tool for risk assessment in ... January 2004). "Automated array-based genomic profiling in chronic lymphocytic leukemia: development of a clinical tool and ... discovery of recurrent genomic alterations". Proceedings of the National Academy of Sciences of the United States of America. ...
... hybridisation between species that were not nearest neighbors on the tree before hybridisation takes place, convergent ... Some sequence-based trees built from a small genomic locus, such as Phylotree, feature internal nodes labeled with inferred ... a biological database covering protein domains Phylogenetic comparative methods Taxonomic rank Letunic, Ivica; Bork, Peer (1 ... For this reason, serious phylogenetic studies generally use a combination of genes that come from different genomic sources (e. ...
The MDA products from a single cell have also been successfully used in array-comparative genomic hybridization experiments, ... This method can rapidly amplify minute amounts of DNA samples to a reasonable quantity for genomic analysis. The reaction ... It might affect the analysis of small stretches of genomic DNA in identifying Short Tandem Repeats (STR) alleles. Endogenous ... "Genomic exploration of individual giant ocean viruses". The ISME Journal. 11 (8): 1736-1745. doi:10.1038/ismej.2017.61. ISSN ...
Lastly and most importantly, comparative genomic studies have identified two conserved signature indels (a 5-7 amino acid ... Fibrobacter intestinalis not shared with Fibrobacter succinogenes as determined by suppressive subtractive hybridization". ...
Hybridization also occurs between female golden jackals and male dogs, which produces fertile offspring, a jackal-dog hybrid. ... 2005). "Genome sequence, comparative analysis and haplotype structure of the domestic dog". Nature. 438 (7069): 803-819. ... "Worldwide patterns of genomic variation and admixture in gray wolves". Genome Research. 26 (2): 163-173. doi:10.1101/gr. ... Its current status is difficult to ascertain, due to possible hybridisation with pariah dogs and African golden wolves. The ...
This was discovered using array comparative genomic hybridization, a DNA-based alternative for clinical evaluation of HER2 gene ... and these include SNP arrays and comparative genomic hybridization (CGH). CGH is a DNA-based diagnostic tool that has been used ... Fluorescence in situ hybridization (FISH) is a cytogenetic technique that has proven to be useful in the diagnosis of patients ... The Cervical Cancer, TERC, Fluorescence in situ hybridization test, detects amplification of the human telomerase RNA component ...
There have been no reports of hybridization between the species in this overlap zone, thought to be due to differences in ... Journal of Comparative Physiology A. 191 (7): 605-618. doi:10.1007/s00359-005-0610-3. PMID 15886992. Zuk, Marlene; Simmons, L ... Hawaiian islands have been shown to be the result of separate mutational events which occurred in the same or nearby genomic ...
The Agilent Capture Array and the comparative genomic hybridization array are other methods that can be used for hybrid capture ... comparative genomic hybridization) but provided definitive genetic diagnoses in fewer than half of all patients. Exome ... The beads are then removed and the genomic fragments can be sequenced allowing for selective DNA sequencing of genomic regions ... Genomic DNA is sheared to form double-stranded fragments. The fragments undergo end-repair to produce blunt ends and adaptors ...
... of comparative genomic hybridization to metaphase chromosomes and to a matrix with DNA spots representing specific genomic ... Cremer made major contributions to the development of in situ hybridization techniques to visualize normal and aberrant ... "Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific ...
The software gives users the ability to view the data in an overall genomic view as well as magnify specific chromosomal ... Array comparative genomic hybridization (CGH) is a technique which detects copy number differences in DNA segments. Complete ... SeeGH - A software tool for visualization of whole genome array comparative genomic hybridization data. *Bryan Chi. 1, ... Array comparative genomic hybridization (CGH) is a technique which detects copy number differences in DNA segments. Complete ...
Dive into the research topics of Expression microarray analysis and oligo array comparative genomic hybridization of acquired ... Therefore, chromosomal copy number changes were measured, using oligo array comparative genomic hybridization. A narrow and ... Therefore, chromosomal copy number changes were measured, using oligo array comparative genomic hybridization. A narrow and ... Therefore, chromosomal copy number changes were measured, using oligo array comparative genomic hybridization. A narrow and ...
... ... We applied comparative genomic hybridization (CGH) to identify the most frequent genomic imbalances in 18 BRCAX hereditary ... Comparison of genomic abnormalities between BRCAX and sporadic breast cancers studied by comparative genomic hybridization. ...
Getting it right: designing microarray (and not microawry) comparative genomic hybridization studies for cancer research * ...
Array comparative genomic hybridization (array CGH) confirmed deletions of both distal 5p and proximal 15q and provided more ... Array comparative genomic hybridization (array CGH) confirmed deletions of both distal 5p and proximal 15q and provided more ... Array comparative genomic hybridization (array CGH) confirmed deletions of both distal 5p and proximal 15q and provided more ... Array comparative genomic hybridization (array CGH) confirmed deletions of both distal 5p and proximal 15q and provided more ...
References are listed in Supplementary Table 1. Abbreviations: CGH, comparative genomic hybridization; IHC, ... References are listed in Supplementary Table 1. Abbreviations: CGH, comparative genomic hybridization; IHC, ... in addition to a meta-analysis of multiple comparative genomic hybridization (CGH) studies. The expression of genes from ... fluorescence in situ hybridization (FISH), and mutation analyses are more straightforward. A meta-analysis showed that the ...
Comparative genomic hybridization studies in hydatidiform moles and choriocarcinoma: Amplification of 7q21-q31 and loss of 8p12 ... Comparative genomic hybridization studies in hydatidiform moles and choriocarcinoma: Amplification of 7q21-q31 and loss of 8p12 ... Comparative genomic hybridization studies in hydatidiform moles and choriocarcinoma: Amplification of 7q21-q31 and loss of 8p12 ... T1 - Comparative genomic hybridization studies in hydatidiform moles and choriocarcinoma. T2 - Amplification of 7q21-q31 and ...
Fluorescence in situ hybridization (FISH) * Chromosome comparative genomic hybridization (CGH) * Microarray CGH ... Fluorescent in situ hybridization (FISH) study of a patient with cri-du-chat syndrome. FISH photograph shows deletion of a ...
June 2006: Use of Array Comparative Genomic Hybridization (aCGH) and Other Whole-genome Analysis for Prenatal Screening. This ...
Karyotype and array comparative genomic hybridization were normal. Results of screening for metabolic diseases were negative. ... plus results from an array of comparative genomic hybridization and 3-generation pedigree, suggest low risk that the condition ... NC/nonstructural protein 1 genomic region, 176 bp to the nonstructural protein 1 region, and 374 bp to the E3/E2. We compared ...
Analysis of genetic alterations in uterine leiomyomas and leiomyosarcomas by comparative genomic hybridization. Mol Carcinogen ... Analysis of genetic alterations in uterine leiomyomas and leiomyosarcomas by comparative genomic hybridization. Mol Carcinogen ... Estrogen Regulates MAPK-Related Genes through Genomic and Nongenomic Interactions between IGF-I Receptor Tyrosine Kinase and ... Estrogen Regulates MAPK-Related Genes through Genomic and Nongenomic Interactions between IGF-I Receptor Tyrosine Kinase and ...
A modified Bayes information criterion with applications to the analysis of comparative genomic hybridization data. Biometrics ...
It is also known as as an array comparative genomic hybridization. Chorionic Villus Sampling. ... Fluorescence in Situ Hybridization Fluorescence in Situ Hybridization (FISH) detects chromosomal abnormalities and other ...
Keywords: comparative genomic hybridization. Publication(s) associated with this dataset: h4.sbrppubs { padding: 0 5px 2px 5px ... Title: Comparative Genomics of D. ethenogenes 195 and an Unsequenced Dehalococcoides-Containing Enrichment Culture ... DNA from ANAS was hybridized to the microarray to characterize the genomic content of the ANAS enrichment. The microarray ... Comparative genomics of Dehalococcoides ethenogenes 195 and an enrichment culture containing unsequenced Dehalococcoides ...
Experimental design and data analysis for array comparative genomic hybridization. Cancer Invest 2008; 26:923-8. PubMed ... Comparative analysis of H2A.Z nucleosome organization in the human and yeast genomes. Genome Res 2009; 19:967-77. PubMed ... Functional genomic analysis of chromosomal aberrations in a compendium of 8000 cancer genomes. Genome Res 2013. PubMed ... Genomic Determinants of De Novo Resistance to Immune Checkpoint Blockade in Mismatch Repair-Deficient Endometrial Cancer. JCO ...
comparative genomic hybridization Last postbyDr. Wisot « Tue Jun 21, 2011 11:47 am ...
Molecular genetic analysis of central nervous system germ cell tumors with comparative genomic hybridization. Mod Pathol 19 (6 ... Previous molecular studies that compared the genomic alterations in GCTs showed similar copy-number alterations in both CNS ... In: Teilum G: Special Tumors of Ovary and Testis and Related Extragonadal Lesions: Comparative Pathology and Histological ...
Identification of Sex Chromosomes by Means of Comparative Genomic Hybridization in a Lizard, Eremias multiocellata. Zool. Sci. ... Genomic organization of the sex-determining and adjacent regions of the sex chromosomes of medaka. Genome Res. 2006, 16, 815- ... We used the total genomic DNA of a female E. velox as a template. The PCR mix contained 10 μL of a PCR master mix (Biolabmix, ... The total genomic DNA reads were aligned to the P. muralis genome as described above, and the previously identified sequences, ...
DNA-based Comparative Genomic Hybridization (CGH), or gene and oligonucleotide microarrays, are of great importance for ... With the rapid advances in molecular, genomic, and proteomics-based diagnostic technologies, reference materials for controls ... and comparative trials (Phase III). Monitoring should be commensurate with risk. The establishment of data and safety ...
Comparative Genomic In Situ Hybridization and the Possible Role of Retroelements in the Karyotypic Evolution of Three ...
HaMMLET: Software that is able to improve detection of genomic copy number variants in array comparative genomic hybridization ... KnowEng, a Scalable Knowledge Engine for Large-Scale Genomic Data (KnowEnG). *The KnowEng Center built a computational ... genTB: An analysis tool for translational tuberculosis genomic data that offers a means for sharing, citing and crediting ... Genomic data compression is improved by 10-100-fold using these tools. ...
Whole genome amplification for array comparative genomic hybridization using DNA extracted from formalin-fixed, paraffin- ... Genomic DNA. Home. Products. Discovery & Translational Research. DNA & RNA Purification. DNA. Genomic DNA. DNeasy Blood & ... Isolation of genomic DNA from mosquitoes or other insects using the QIAGEN Genomic tip (QG06). ... The expected yield of genomic DNA isolated from bacteria with the DNeasy Blood & Tissue Kit or the QIAamp DNA Mini Kit is ...
High-resolution oligonucleotide comparative genomic hybridization array (CGH) arrays were performed following standard ... Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer. ... Comparison of array-based comparative genomic hybridization with gene expression-based regional expression biases to identify ... Comparative Genomic Analysis of Pancreatic Acinar Cell Carcinoma (PACC) and Pancreatic Ductal Adenocarcinoma (PDAC)Unveils New ...
... of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation. Eur J ... Genomic disorders on 22q11. Am J Hum Genet. 2002 May;70(5):1077-88. doi: 10.1086/340363. Epub 2002 Mar 29. Citation on PubMed ... 22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome. Int J Dev Neurosci. 2002 Jun-Aug;20(3-5): ...
The FISH observations were confirmed by comparative genomic hybridization array to BAC clones and Southern Blot analysis. In ... Fluorescent in situ hybridization analysis using a specific E2F1 probe indicated increased E2F1 gene copies in several melanoma ...
  • After co-hybridization of differentially labeled DNA samples to an array, two high resolution fluorescence images, one for each labeled probe, are generated. (biomedcentral.com)
  • The quantification issues related to comparisons of matched primary tumors and metastases assessed using CGH, fluorescence in situ hybridization (FISH), and mutation analyses are more straightforward. (medscape.com)
  • Fluorescence in Situ Hybridization (FISH) detects chromosomal abnormalities and other genetic mutations in a baby's cells. (ynhh.org)
  • To exclude the presence of dic(1;15)(p10-11;p10-11) or dic(1;15)(q10 11;q10-11) fluorescence in situ hybridization with centromere-specific probes for both chromosomes is recommended. (atlasgeneticsoncology.org)
  • Detection of E2A translocations in leukemias via fluorescence in situ hybridization. (atlasgeneticsoncology.org)
  • Comprehensive cytogenetic analysis including multicolor spectral karyotyping and interphase fluorescence in situ hybridization in lymphoma diagnosis. (atlasgeneticsoncology.org)
  • The software gives users the ability to view the data in an overall genomic view as well as magnify specific chromosomal regions facilitating the precise localization of genetic alterations. (biomedcentral.com)
  • Therefore, chromosomal copy number changes were measured, using oligo array comparative genomic hybridization. (tue.nl)
  • We applied comparative genomic hybridization (CGH) to identify the most frequent genomic imbalances in 18 BRCAX hereditary breast cancers and compared them to chromosomal aberrations detected in a group of 27 sporadic breast cancers. (edu.au)
  • Comparative genomic hybridization findings showed chromosomal imbalances in 9 of 12 cases of choriocarcinoma. (arizona.edu)
  • DNA from ANAS was hybridized to the microarray to characterize the genomic content of the ANAS enrichment. (nih.gov)
  • BAC microarray was used for array comparative genomic hybridization on prostate cancer samples and cell lines. (nih.gov)
  • Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH). (bvsalud.org)
  • The main consequence of these rearrangements is genomic imbalance resulting from the presence of an extra copy of the long arm of chromosome 1, leading to overexpression of several genes, likely implicated in neoplastic processes by a gene dosage effect. (atlasgeneticsoncology.org)
  • Currently this approach allows the screening of tens of thousands of genomic segments for copy number alterations in a single experiment. (biomedcentral.com)
  • [ 11 ] Lung metastases showed more genomic alterations than liver metastases. (medscape.com)
  • Array comparative genomic hybridization (CGH) is a technique which detects copy number differences in DNA segments. (biomedcentral.com)
  • In array CGH the resolution in detecting segmental copy number changes is limited only by the distance between and size of the genomic DNA segments spotted on the array. (biomedcentral.com)
  • In conclusion, the array comparative genomic hybridization biologically validates our statistical approach and shows that gemcitabine is capable to select for chromosomally aberrant tumor cells, where changed gene expression levels lead to drug resistance. (tue.nl)
  • Array comparative genomic hybridization (array CGH) confirmed deletions of both distal 5p and proximal 15q and provided more accurate information as to the size of the deletions and the molecular breakpoints. (nyu.edu)
  • Karyotype and array comparative genomic hybridization were normal. (cdc.gov)
  • It is also known as as an array comparative genomic hybridization. (ynhh.org)
  • 15. Array comparative genomic hybridization analysis of uterine leiomyosarcoma. (nih.gov)
  • The FISH observations were confirmed by comparative genomic hybridization array to BAC clones and Southern Blot analysis. (cdc.gov)
  • Detection of recurrent copy number loss at Yp11.2 involving TSPY gene cluster in prostate cancer using array-based comparative genomic hybridization. (nih.gov)
  • Array comparative genomic hybridization was uninformative in all but one. (nih.gov)
  • The study was triggered by observations in a discovery series of 90 ASD cases, who underwent clinical genetic testing by array-comparative genomic hybridisation. (bmj.com)
  • We used Spectral Karyoryping (SKY), mapping with fluorescently labeled genomic clones (FISH), comparative genomic hybridization (CGH), expression array, real time polymerase chain reaction and Western blot to analyze 15 primary adenocarcinoma and 9 pairs of high and low invasive cell cultures to detect molecular changes. (cdc.gov)
  • Patterns of genomic aberrations suggest that Burkitt lymphomas with complex karyotype are distinct from other aggressive B-cell lymphomas with MYC rearrangement. (atlasgeneticsoncology.org)
  • Supplementary Table 1 shows a more complete listing of studies regarding matched primary and metastatic lesions, in addition to a meta-analysis of multiple comparative genomic hybridization (CGH) studies. (medscape.com)
  • Fluorescent in situ hybridization analysis using a specific E2F1 probe indicated increased E2F1 gene copies in several melanoma cell lines compared to normal melanocytes. (cdc.gov)
  • and The availability of new genomic analysis techniques is "testing include RhD blood group" (N=5). (nih.gov)
  • Genomic and Molecular Profiling of Human Papillomavirus Associated Head and Neck Squamous Cell Carcinoma Treated with Immune Checkpoint Blockade Compared to Survival Outcomes. (ucsf.edu)
  • In collaboration with the Karolinska Genome Engineering (KGE) core facility at Karolinska Institutet, we establish iPS cell lines with edited genomic region of your interest. (ki.se)
  • Comparative genomic hybridization (CGH) was utilized to investigate genetic changes from archived cases of choriocarcinoma (n = 12) and hydatidiform moles (n = 7). (arizona.edu)
  • Comparison of cancer cell lines by karyotype and comparative genomic hybridization. (cdc.gov)
  • Karyotype and array comparative genomic hybridization were normal. (cdc.gov)
  • However, by using a prototype plasmid-based microarray that covered 10% of the genome, we found multiple genomic DNA deletions among 30 M. ulcerans clinical isolates of diverse geographic origins. (cdc.gov)
  • We used this method for the differential genomic analysis of M. ulcerans, a human pathogen for which the fully assembled and annotated genome sequence was not available at the time of the study. (cdc.gov)
  • Comparative genomic hybridization (CGH) is used to compare the genetic material from a test individual, such as a leukemia patient, to that of a reference 'normal' individual (usually DNA pooled from several subjects), to identify the presence of copy-number changes in the test sample. (medscape.com)
  • created and validated a custom aCGH platform as a clinical assay for CLL genomic profiling, designed to interrogate all known CLL prognostic loci. (medscape.com)
  • Comparative genomic hybridization (CGH) is now often recommended to identify a greater number of subtle cytogenetic abnormalities in pervasive developmental disorder (PDD). (medscape.com)