An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.
Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders.
A characteristic symptom complex.
An algal bloom where the algae produce powerful toxins that can kill fish, birds, and mammals, and ultimately cause illness in humans. The harmful bloom can also cause oxygen depletion in the water due to the death and decomposition of non-toxic algae species.
Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
The enrichment of a terrestrial or aquatic ECOSYSTEM by the addition of nutrients, especially nitrogen and phosphorus, that results in a superabundant growth of plants, ALGAE, or other primary producers. It can be a natural process or result from human activity such as agriculture runoff or sewage pollution. In aquatic ecosystems, an increase in the algae population is termed an algal bloom.
Free-floating minute organisms that are photosynthetic. The term is non-taxonomic and refers to a lifestyle (energy utilization and motility), rather than a particular type of organism. Most, but not all, are unicellular algae. Important groups include DIATOMS; DINOFLAGELLATES; CYANOBACTERIA; CHLOROPHYTA; HAPTOPHYTA; CRYPTOMONADS; and silicoflagellates.
A family of enzymes that catalyze the exonucleolytic cleavage of DNA. It includes members of the class EC 3.1.11 that produce 5'-phosphomonoesters as cleavage products.
A form-genus of CYANOBACTERIA in the order Chroococcales. Many species are planktonic and possess gas vacuoles.
DNA TOPOISOMERASES that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. DNA Topoisomerases, Type I enzymes reduce the topological stress in the DNA structure by relaxing the superhelical turns and knotted rings in the DNA helix.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
A cross-shaped DNA structure that can be observed under the electron microscope. It is formed by the incomplete exchange of strands between two double-stranded helices or by complementary INVERTED REPEAT SEQUENCES that refold into hairpin loops on opposite strands across from each other.
Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man,, August 20, 2004)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
Poly(deoxyribonucleotide):poly(deoxyribonucleotide)ligases. Enzymes that catalyze the joining of preformed deoxyribonucleotides in phosphodiester linkage during genetic processes during repair of a single-stranded break in duplex DNA. The class includes both EC (ATP) and EC (NAD).
The process by which a DNA molecule is duplicated.
Cyclic heptapeptides found in MICROCYSTIS and other CYANOBACTERIA. Hepatotoxic and carcinogenic effects have been noted. They are sometimes called cyanotoxins, which should not be confused with chemicals containing a cyano group (CN) which are toxic.
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.
Toxic or poisonous substances elaborated by marine flora or fauna. They include also specific, characterized poisons or toxins for which there is no more specific heading, like those from poisonous FISHES.
The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
An oligopeptide produced by various bacteria which acts as a protease inhibitor.
An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase.
Flagellate EUKARYOTES, found mainly in the oceans. They are characterized by the presence of transverse and longitudinal flagella which propel the organisms in a rotating manner through the water. Dinoflagellida were formerly members of the class Phytomastigophorea under the old five kingdom paradigm.
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).
Catalyze the joining of preformed ribonucleotides or deoxyribonucleotides in phosphodiester linkage during genetic processes. EC 6.5.1.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
A single-stranded DNA-binding protein that is found in EUKARYOTIC CELLS. It is required for DNA REPLICATION; DNA REPAIR; and GENETIC RECOMBINATION.
Mucocellular carcinoma of the ovary, usually metastatic from the gastrointestinal tract, characterized by areas of mucoid degeneration and the presence of signet-ring-like cells. It accounts for 30%-40% of metastatic cancers to the ovaries and possibly 1%-2% of all malignant ovarian tumors. The lesions may not be discovered until the primary disease is advanced, and most patients die of their disease within a year. In some cases, a primary tumor is not found. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1685)
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
Inland bodies of still or slowly moving FRESH WATER or salt water, larger than a pond, and supplied by RIVERS and streams.
Established cell cultures that have the potential to propagate indefinitely.
An individual in which both alleles at a given locus are identical.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
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.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
An individual having different alleles at one or more loci regarding a specific character.
The magnitude of INBREEDING in humans.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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)
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

Evolution of the RECQ family of helicases: A drosophila homolog, Dmblm, is similar to the human bloom syndrome gene. (1/188)

Several eukaryotic homologs of the Escherichia coli RecQ DNA helicase have been found. These include the human BLM gene, whose mutation results in Bloom syndrome, and the human WRN gene, whose mutation leads to Werner syndrome resembling premature aging. We cloned a Drosophila melanogaster homolog of the RECQ helicase family, Dmblm (Drosophila melanogaster Bloom), which encodes a putative 1487-amino-acid protein. Phylogenetic and dot plot analyses for the RECQ family, including 10 eukaryotic and 3 prokaryotic genes, indicate Dmblm is most closely related to the Homo sapiens BLM gene, suggesting functional similarity. Also, we found that Dmblm cDNA partially rescued the sensitivity to methyl methanesulfonate of Saccharomyces cerevisiae sgs1 mutant, demonstrating the presence of a functional similarity between Dmblm and SGS1. Our analyses identify four possible subfamilies in the RECQ family: (1) the BLM subgroup (H. sapiens Bloom, D. melanogaster Dmblm, and Caenorhabditis elegans T04A11.6); (2) the yeast RECQ subgroup (S. cerevisiae SGS1 and Schizosaccharomyces pombe rqh1/rad12); (3) the RECQL/Q1 subgroup (H. sapiens RECQL/Q1 and C. elegans K02F3.1); and (4) the WRN subgroup (H. sapiens Werner and C. elegans F18C5.2). This result may indicate that metazoans hold at least three RECQ genes, each of which may have a different function, and that multiple RECQ genes diverged with the generation of multicellular organisms. We propose that invertebrates such as nematodes and insects are useful as model systems of human genetic diseases.  (+info)

The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. (2/188)

Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth deficiency, immunodeficiency, genomic instability, and the early development of cancers of many types. BLM, the protein encoded by BLM, the gene mutated in BS, is localized in nuclear foci and absent from BS cells. BLM encodes a DNA helicase, and proteins from three missense alleles lack displacement activity. BLM transfected into BS cells reduces the frequency of sister chromatid exchanges and restores BLM in the nucleus. Missense alleles fail to reduce the sister chromatid exchanges in transfected BS cells or restore the normal nuclear pattern. BLM complements a phenotype of a Saccharomyces cerevisiae sgs1 top3 strain, and the missense alleles do not. This work demonstrates the importance of the enzymatic activity of BLM for its function and nuclear localization pattern.  (+info)

Oligomeric ring structure of the Bloom's syndrome helicase. (3/188)

Bloom's syndrome is a recessive human genetic disorder associated with an elevated incidence of many types of cancer. The Bloom's syndrome gene product, BLM, belongs to the RecQ subfamily of DNA helicases and is required for the maintenance of genomic stability in human cells - in particular, the suppression of reciprocal exchanges between sister chromatids. We have investigated the quaternary structure of BLM using a combination of size-exclusion chromatography and electron microscopy with reference-free image processing. We found that BLM forms hexameric ring structures with an overall diameter of approximately 13 nm surrounding a central hole of approximately 3.5 nm diameter. A fourfold symmetric square form with approximately 11 nm sides and a hole of approximately 4 nm diameter was also detected, which might represent a distinct oligomeric species or a side view of the hexameric form. Chromatography studies indicated that the majority of enzymatically active BLM has an apparent molecular mass of > 700 kDa, which is consistent with an oligomeric structure for BLM. This provides the first structural analysis of an oligomeric ring helicase of eukaryotic cellular origin. These results have implications for the mechanism of action of BLM and suggest that other RecQ family helicases, including the WRN protein associated with Werner's syndrome, might also adopt ring structures.  (+info)

Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. (4/188)

The gene BLM, mutated in Bloom syndrome (BS), encodes the nuclear protein BLM, which when absent, as it is from most BS cells, results in genomic instability. A manifestation of this instability is an excessive rate of sister-chromatid exchange (SCE). Here we describe the effects on this abnormal cellular phenotype of stable transfection of normal BLM cDNAs into two types of BS cells, SV40-transformed fibroblasts and Epstein-Barr virus (EBV)-transformed lymphoblastoid cells. Clones of BLM-transfected fibroblasts produced normal amounts of BLM by western blot analysis and displayed a normal nuclear localization of the protein by immunofluorescence microscopy. They had a mean of 24 SCEs/46 chromosomes, in contrast to the mean of 69 SCEs in controls transfected only with the vector. BLM-transfected fibroblast clones that expressed highest levels of the BLM protein had lowest levels of SCE. The lymphoblastoid cells transfected with BLM had SCE frequencies of 22 and 42 in two separate experiments in which two different selectable markers were used, in contrast to 57 and 58 in vector-transfected cells; in this type cell, however, the BLM protein was below the level detectable by western blot analysis. These experiments prove that BLM cDNA encodes a functional protein capable of restoring to or toward normal the uniquely characteristic high-SCE phenotype of BS cells.  (+info)

Expression of the BLM gene in human haematopoietic cells. (5/188)

Bloom's syndrome (BS) is a rare autosomal recessive disorder characterized by stunted growth, sun-sensitive erythema and immunodeficiency. Chromosomal abnormalities are often observed. Patients with BS are highly predisposed to cancers. The causative gene for BS has been identified as BLM. The former encodes a protein, which is a homologue of the RecQ DNA helicase family, a family which includes helicases such as Esherichia coli RecQ, yeast Sgs1, and human WRN. WRN is encoded by the gene that when mutated causes Werner's syndrome. The function of BLM in DNA replication and repair has not yet been determined, however. To understand the function of BLM in haematopoietic cells and the cause of immunodeficiency in BS, expression of the BLM gene in various human tissues and haematopoietic cell lines was analysed and the involvement of BLM in immunoglobulin rearrangement examined. In contrast to WRN, BLM was expressed strongly in the testis and thymus. B, T, myelomonocytic and megakaryocytic cell lines also expressed BLM. All of the examined sequences at the junction of the variable (V), diversity (D) and joining (J) regions of the immunoglobulin heavy-chain genes were in-frame, and N-region insertions were also present. The frequency of abnormal rearrangements of the T cell receptor was slightly elevated in the peripheral T cells of patients with BS compared with healthy individuals, whereas a higher frequency of abnormal rearrangements was observed in the cells of patients with ataxia-telangiectasia (A-T). In DND39 cell lines, the induction of sterile transcription, which is required for class switching of immunoglobulin heavy-chain constant genes, was correlated with the induction of the BLM gene. Taking into consideration all these results, BLM may not be directly involved in VDJ recombination, but is apparently involved in the maintenance of the stability of DNA.  (+info)

Requirement of yeast SGS1 and SRS2 genes for replication and transcription. (6/188)

The SGS1 gene of the yeast Saccharomyces cerevisiae encodes a DNA helicase with homology to the human Bloom's syndrome gene BLM and the Werner's syndrome gene WRN. The SRS2 gene of yeast also encodes a DNA helicase. Simultaneous deletion of SGS1 and SRS2 is lethal in yeast. Here, using a conditional mutation of SGS1, it is shown that DNA replication and RNA polymerase I transcription are drastically inhibited in the srs2Delta sgs1-ts strain at the restrictive temperature. Thus, SGS1 and SRS2 function in DNA replication and RNA polymerase I transcription. These functions may contribute to the various defects observed in Werner's and Bloom's syndromes.  (+info)

Posttranscriptional gene silencing in Neurospora by a RecQ DNA helicase. (7/188)

The phenomenon of posttranscriptional gene silencing (PTGS), which occurs when a transgene is introduced into a cell, is poorly understood. Here, the qde-3 gene, which is required for the activation and maintenance of gene silencing in the fungus Neurospora crassa, was isolated. Sequence analysis revealed that the qde-3 gene belongs to the RecQ DNA helicase family. The QDE3 protein may function in the DNA-DNA interaction between introduced transgenes or with an endogenous gene required for gene-silencing activation. In animals, genes that are homologous to RecQ protein, such as the human genes for Bloom's syndrome and Werner's syndrome, may also function in PTGS.  (+info)

A role for PML and the nuclear body in genomic stability. (8/188)

The PML gene of acute promyelocytic leukemia (APL) encodes a cell-growth and tumor suppressor. PML localizes to discrete nuclear bodies (NBs) that are disrupted in APL cells. The Bloom syndrome gene BLM encodes a RecQ DNA helicase, whose absence from the cell results in genomic instability epitomized by high levels of sister-chromatid exchange (SCE) and cancer predisposition. We show here that BLM co-localizes with PML to the NB. In cells from persons with Bloom syndrome the localization of PML is unperturbed, whereas in APL cells carrying the PML-RARalpha oncoprotein, both PML and BLM are delocalized from the NB into microspeckled nuclear regions. Treatment with retinoic acid (RA) induces the relocalization of both proteins to the NB. In primary PML-/- cells, BLM fails to accumulate in the NB. Strikingly, in PML-/- cells the frequency of SCEs is increased relative to PML+/+ cells. These data demonstrate that BLM is a constituent of the NB and that PML is required for its accumulation in these nuclear domains and for the normal function of BLM. Thus, our findings suggest a role for BLM in APL pathogenesis and implicate the PML NB in the maintenance of genomic stability.  (+info)

Bloom syndrome is a rare genetic disorder that affects approximately 1 in 100,000 individuals worldwide. It is caused by a mutation in the BLM gene, which codes for the Bloom syndrome protein (BLM). This protein plays a crucial role in the repair of DNA double-strand breaks and other types of genetic damage.


Individuals with Bloom syndrome typically have short stature, small head size, and delicate features. They may also experience a range of health problems, including:

1. Increased risk of cancer: People with Bloom syndrome have an increased risk of developing various types of cancer, such as ovarian, breast, skin, and colon cancer.
2. Immune system problems: Individuals with Bloom syndrome may experience immune deficiency and autoimmune disorders, such as allergies and lupus.
3. Infertility: Many people with Bloom syndrome experience infertility or have difficulty conceiving.
4. Developmental delays: Children with Bloom syndrome may experience delayed development, including speech and language difficulties.
5. Skin changes: Individuals with Bloom syndrome may develop skin changes, such as thinning of the skin, easy bruising, and an increased risk of skin cancer.
6. Eye problems: Bloom syndrome can cause a range of eye problems, including cataracts, glaucoma, and detached retinas.
7. Increased risk of infections: People with Bloom syndrome may be more susceptible to infections due to their weakened immune system.
8. Other health problems: Individuals with Bloom syndrome may experience other health issues, such as hearing loss, kidney disease, and gastrointestinal problems.


Bloom syndrome can be diagnosed through a combination of clinical evaluation, family history, and genetic testing. Genetic testing can identify the presence of the BLM mutation that causes the disorder. Prenatal testing is also available for pregnant women who have a family history of Bloom syndrome.


There is no cure for Bloom syndrome, but treatment can help manage the symptoms and prevent complications. Treatment options may include:

1. Skin cancer screening and prevention: Regular skin exams can help detect skin cancer at an early stage, and preventive measures such as avoiding excessive sun exposure and using protective clothing and sunscreen can reduce the risk of skin cancer.
2. Eye care: Regular eye exams can help detect eye problems early, and prompt treatment can prevent vision loss.
3. Immune system support: Individuals with Bloom syndrome may be at increased risk of infections, so it's important to take steps to support the immune system, such as getting vaccinated against common illnesses and practicing good hygiene.
4. Developmental support: Children with Bloom syndrome may require extra support in school and at home to help them reach their full potential.
5. Managing other health problems: Depending on the specific health issues experienced by an individual with Bloom syndrome, treatment may involve medication, lifestyle changes, or other interventions to manage these conditions.


The prognosis for individuals with Bloom syndrome varies depending on the specific health problems they experience. Some individuals may have a relatively mild course of the condition, while others may experience more severe health issues. With appropriate medical care and support, many individuals with Bloom syndrome can lead fulfilling lives. However, the condition can be associated with a shorter life expectancy compared to the general population.

Lifestyle Changes:

There are several lifestyle changes that can help manage the symptoms of Bloom syndrome and improve overall health. These may include:

1. Protecting the skin from the sun: Avoid excessive sun exposure, especially during peak hours, and use protective clothing and sunscreen to prevent skin damage.
2. Eating a healthy diet: A balanced diet that includes plenty of fruits, vegetables, whole grains, and lean protein can help support overall health.
3. Staying hydrated: Drinking plenty of water can help prevent dehydration, which can be a common issue for individuals with Bloom syndrome.
4. Avoiding smoking and excessive alcohol consumption: Both smoking and excessive alcohol consumption can worsen the symptoms of Bloom syndrome and increase the risk of certain health problems.
5. Getting regular exercise: Regular physical activity can help improve overall health and reduce the risk of certain health problems.
6. Managing stress: Stress can exacerbate the symptoms of Bloom syndrome, so it's important to find healthy ways to manage stress, such as through relaxation techniques or therapy.
7. Getting enough sleep: Adequate sleep is essential for overall health and well-being, and can help reduce the risk of certain health problems.
8. Avoiding exposure to toxins: Individuals with Bloom syndrome may be more susceptible to the effects of toxins, so it's important to avoid exposure to chemicals and other toxins whenever possible.
9. Keeping up-to-date on medical care: Regular check-ups with a healthcare provider can help identify any health issues early on and prevent complications.

Support Groups:

There are several support groups and organizations that provide information, resources, and support for individuals with Bloom syndrome and their families. These include:

1. The National Organization for Rare Disorders (NORD) - Provides information and resources on rare diseases, including Bloom syndrome.
2. The Bloom Syndrome Foundation - A non-profit organization dedicated to supporting research and providing information and resources for individuals with Bloom syndrome and their families.
3. The Rare Disease United Foundation - Provides information and resources on rare diseases, including Bloom syndrome, as well as support for individuals and families affected by these conditions.

Online Resources:

There are several online resources available to help individuals with Bloom syndrome and their families learn more about the condition, connect with others, and find support. These include:

1. The National Organization for Rare Disorders (NORD) - Provides information and resources on rare diseases, including Bloom syndrome, as well as a directory of healthcare providers and researchers.
2. The Bloom Syndrome Foundation - Offers information and resources on Bloom syndrome, as well as a registry for individuals with the condition to connect with others and receive updates on research and treatments.
3. Rare Disease United - Provides information and resources on rare diseases, including Bloom syndrome, as well as a directory of support groups and advocacy organizations.
4. The Global Bloom Syndrome Registry - A registry for individuals with Bloom syndrome to connect with others and receive updates on research and treatments.
5. The Bloom Syndrome Community - A Facebook group for individuals with Bloom syndrome and their families to connect, share information, and support one another.

These online resources can provide valuable information and support for individuals with Bloom syndrome and their families. It is important to note that while these resources can be helpful, they should not replace the advice of a qualified healthcare professional.

In the medical field, telangiectasis may be diagnosed through a physical examination and/or imaging tests such as ultrasound or MRI. Treatment options for telangiectasis depend on the underlying cause of the condition but may include topical creams or ointments, laser therapy, or lifestyle changes.

Some synonyms for telangiectasis are: spider veins, telangiectatic vessels, and spider naevi.

Note: Telangiectasis is not to be confused with telengectasis which is a condition where the blood vessels in the lung become dilated and can lead to pulmonary embolism.

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.

These conditions can cause significant physical discomfort, emotional distress, and social embarrassment. They can also lead to permanent scarring and disfigurement if left untreated or inadequately treated. Fortunately, there are many effective treatments available for facial dermatoses, ranging from topical creams and ointments to systemic medications and surgery.

Early diagnosis and appropriate treatment are essential for achieving the best possible outcomes for patients with facial dermatoses. A dermatologist can evaluate the patient's symptoms, perform a physical examination of the skin, and use diagnostic tests such as biopsies or blood tests to determine the underlying cause of the condition.

Once the diagnosis is established, the dermatologist will work with the patient to develop an individualized treatment plan that addresses their specific needs and concerns. This may involve a combination of self-care measures, medications, and other interventions. In some cases, a multidisciplinary approach involving other healthcare professionals such as plastic surgeons or psychologists may be necessary to provide comprehensive care.

In addition to treating the underlying condition, facial dermatoses can also have a significant impact on the patient's quality of life. Patients with these conditions may experience social stigma, anxiety, and depression, which can affect their relationships, work performance, and overall well-being. As such, it is essential for healthcare providers to address not only the physical symptoms but also the psychological and emotional needs of patients with facial dermatoses.

Overall, facial dermatoses are a common and diverse group of skin conditions that can have a significant impact on the patient's quality of life. Early diagnosis and appropriate treatment are essential for achieving the best possible outcomes, and a multidisciplinary approach is often necessary to provide comprehensive care.

People with Werner Syndrome typically have a normal intelligence and development during early childhood, but they experience a decline in physical and cognitive abilities as they age. They may also have an increased risk of developing certain cancers, such as lung and ovarian cancer. There is currently no cure for Werner Syndrome, and treatment is focused on managing the symptoms and preventing complications.

The primary diagnostic criteria for Werner Syndrome include:

1. Clinical manifestations of premature aging, such as wrinkled skin, graying hair, and short stature.
2. Normal intelligence and development during early childhood, followed by a decline in physical and cognitive abilities with age.
3. Presence of at least two of the following clinical features:
* Telangiectasias (spider veins)
* Ectropion (outward turning of the eyelids)
* Keratoconjunctivitis sicca (dry eyes)
* Poikilodermatous skin changes (skin thickening and pigmentation)
* Mucosal dryness and atrophy (thinning and drying of the mucous membranes)
4. Presence of a WRN gene mutation, confirmed by genetic testing.

The age of onset and severity of Werner Syndrome can vary widely among affected individuals, but most people experience symptoms within the first few years of life. The disorder is usually diagnosed in childhood or adolescence, based on clinical evaluation and genetic testing.

There is currently no cure for Werner Syndrome, and treatment is focused on managing the symptoms and preventing complications. This may include medication to manage dry eyes and skin, physical therapy to maintain joint mobility, and regular monitoring of the eyes and skin for early detection of any changes or problems. In some cases, surgery may be necessary to correct eye or skin problems.

Werner Syndrome is a rare disorder, and there is ongoing research into its causes and potential treatments. With proper management, many people with Werner Syndrome can lead active and fulfilling lives, despite the challenges posed by the disorder.

1. Medical Definition: In medicine, dwarfism is defined as a condition where an individual's height is significantly below the average range for their age and gender. The term "dwarfism" is often used interchangeably with "growth hormone deficiency," but the two conditions are not the same. Growth hormone deficiency is a specific cause of dwarfism, but there can be other causes as well, such as genetic mutations or chromosomal abnormalities.
2. Genetic Definition: From a genetic perspective, dwarfism can be defined as a condition caused by a genetic mutation or variation that results in short stature. There are many different genetic causes of dwarfism, including those caused by mutations in the growth hormone receptor gene, the insulin-like growth factor 1 (IGF1) gene, and other genes involved in growth and development.
3. Anthropological Definition: In anthropology, dwarfism is defined as a physical characteristic that is considered to be outside the normal range for a particular population or culture. This can include individuals who are short-statured due to various causes, including genetics, nutrition, or environmental factors.
4. Social Definition: From a social perspective, dwarfism can be defined as a condition that is perceived to be different or abnormal by society. Individuals with dwarfism may face social stigma, discrimination, and other forms of prejudice due to their physical appearance.
5. Legal Definition: In some jurisdictions, dwarfism may be defined as a disability or a medical condition that is protected by anti-discrimination laws. This can provide legal protections for individuals with dwarfism and ensure that they have access to the same rights and opportunities as others.

In summary, the definition of dwarfism can vary depending on the context in which it is used, and it may be defined differently by different disciplines and communities. It is important to recognize and respect the diversity of individuals with dwarfism and to provide support and accommodations as needed to ensure their well-being and inclusion in society.

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.

There are several types of photosensitivity disorders, including:

1. Photodermatitis: This is a common condition that causes skin redness, itching, and blisters after exposure to UV radiation. It can be triggered by medications, certain plants, or even some cosmetics.
2. Solar urticaria: This condition causes hives and other skin symptoms after exposure to sunlight. The triggers can include not only UV radiation but also heat, wind, or cold.
3. Photosensitive epilepsy: This is a rare condition that can cause seizures in individuals who have a history of epilepsy. Exposure to certain types of light, especially flickering lights or bright colors, can trigger seizures.
4. Chronic actinic dermatitis: This condition causes skin inflammation and sensitivity to UV radiation, leading to redness, itching, and burning. It is more common in older adults and those with fair skin.

The symptoms of photosensitivity disorders can vary depending on the type of condition and the individual. Common symptoms include:

* Skin redness and irritation
* Itching and burning sensations
* Blisters or hives
* Swelling and inflammation
* Eye irritation or vision problems
* Headaches or fatigue
* Seizures (in the case of photosensitive epilepsy)

Photosensitivity disorders can be caused by a variety of factors, including:

1. Genetic predisposition: Some individuals may be more susceptible to photosensitivity due to their genetic makeup.
2. Medications: Certain medications, such as antibiotics and antipsychotics, can cause photosensitivity as a side effect.
3. Plants or other environmental factors: Exposure to certain plants or other environmental triggers can cause photosensitivity in some individuals.
4. Medical conditions: Certain medical conditions, such as lupus or porphyria, can increase the risk of developing photosensitivity.

There is no cure for photosensitivity disorders, but there are several treatment options available to help manage symptoms and prevent complications. These may include:

1. Avoiding triggers: Individuals with photosensitive conditions should avoid exposure to triggers such as sunlight or certain chemicals.
2. Protective clothing and gear: Wearing protective clothing and gear, such as hats and long sleeves, can help prevent skin exposure to UV radiation.
3. Medications: Topical creams and ointments, oral medications, or injectable treatments may be prescribed to manage symptoms such as itching and inflammation.
4. Phototherapy: Exposure to specific wavelengths of light, such as UVB or PUVA, can help improve skin conditions in some individuals.
5. Lifestyle modifications: Avoiding triggers, protecting the skin, and managing underlying medical conditions can help reduce the risk of complications associated with photosensitivity disorders.

It is important to note that photosensitivity disorders can be unpredictable, and the severity of symptoms can vary from person to person and over time. If you suspect you or someone you know may have a photosensitivity disorder, it is essential to consult with a healthcare professional for proper diagnosis and treatment.

Down syndrome can be diagnosed before birth through prenatal testing, such as chorionic villus sampling or amniocentesis, or after birth through a blood test. The symptoms of Down syndrome can vary from person to person, but common physical features include:

* A flat face with a short neck and small ears
* A short stature
* A wide, short hands with short fingers
* A small head
* Almond-shaped eyes that are slanted upward
* A single crease in the palm of the hand

People with Down syndrome may also have cognitive delays and intellectual disability, as well as increased risk of certain medical conditions such as heart defects, gastrointestinal problems, and hearing and vision loss.

There is no cure for Down syndrome, but early intervention and proper medical care can greatly improve the quality of life for individuals with the condition. Treatment may include speech and language therapy, occupational therapy, physical therapy, and special education programs. With appropriate support and resources, people with Down syndrome can lead fulfilling and productive lives.

There are currently no cures for Fanconi anemia, but bone marrow transplantation and other supportive therapies can help manage some of the symptoms and improve quality of life. Research into the genetics and molecular biology of Fanconi anemia is ongoing to better understand the disorder and develop new treatments.

Some of the common symptoms of Fanconi anemia include short stature, limb deformities, hearing loss, vision problems, and an increased risk of infections and cancer. Children with Fanconi anemia may also experience developmental delays, learning disabilities, and social and emotional challenges.

The diagnosis of Fanconi anemia is typically made based on a combination of clinical findings, laboratory tests, and genetic analysis. Treatment options for Fanconi anemia depend on the severity of the disorder and may include bone marrow transplantation, blood transfusions, antibiotics, and other supportive therapies.

Fanconi anemia is a rare disorder that affects approximately 1 in 160,000 births worldwide. It is more common in certain populations, such as Ashkenazi Jews and individuals of Spanish descent. Fanconi anemia can be inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Overall, Fanconi anemia is a complex and rare genetic disorder that requires specialized medical care and ongoing research to better understand its causes and develop effective treatments. With appropriate management and supportive therapies, individuals with Fanconi anemia can lead fulfilling lives despite the challenges associated with the disorder.

1. Abdominal obesity (excess fat around the waistline)
2. High blood pressure (hypertension)
3. Elevated fasting glucose (high blood sugar)
4. High serum triglycerides (elevated levels of triglycerides in the blood)
5. Low HDL cholesterol (low levels of "good" cholesterol)

Having three or more of these conditions is considered a diagnosis of metabolic syndrome X. It is estimated that approximately 34% of adults in the United States have this syndrome, and it is more common in women than men. Risk factors for developing metabolic syndrome include obesity, lack of physical activity, poor diet, and a family history of type 2 diabetes or CVD.

The term "metabolic syndrome" was first introduced in the medical literature in the late 1980s, and since then, it has been the subject of extensive research. The exact causes of metabolic syndrome are not yet fully understood, but it is believed to be related to insulin resistance, inflammation, and changes in body fat distribution.

Treatment for metabolic syndrome typically involves lifestyle modifications such as weight loss, regular physical activity, and a healthy diet. Medications such as blood pressure-lowering drugs, cholesterol-lowering drugs, and anti-diabetic medications may also be prescribed if necessary. It is important to note that not everyone with metabolic syndrome will develop type 2 diabetes or CVD, but the risk is increased. Therefore, early detection and treatment are crucial in preventing these complications.

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 main clinical features of Rothmund-Thomson Syndrome include:

1. Congenital anomalies: Individuals with RTS are born with a variety of physical abnormalities such as short stature, microcephaly (small head), and facial dysmorphism (abnormal facial features).
2. Skin abnormalities: The skin is thin, delicate, and susceptible to infections, blistering, and scarring. Individuals with RTS may develop poikiloderma (a condition characterized by irregularly pigmented patches on the skin).
3. Skeletal abnormalities: RTS can cause a range of skeletal defects such as short or missing limbs, joint deformities, and spinal abnormalities.
4. Craniofacial abnormalities: The syndrome can also result in craniofacial abnormalities such as micrognathia (small jaw), protruding eyes, and hearing loss.
5. Developmental delays: Individuals with RTS often experience developmental delays and intellectual disability. They may have difficulty with speech, language, and social interactions.
6. Increased risk of cancer: People with Rothmund-Thomson Syndrome have an increased risk of developing certain types of cancer, particularly osteosarcoma (bone cancer) and rhabdomyosarcoma (soft tissue cancer).
7. Autoimmune disorders: RTS can also lead to autoimmune disorders such as thyroiditis (inflammation of the thyroid gland) and vitiligo (loss of skin pigmentation).
8. Poor immune function: The syndrome can cause poor immune function, making individuals more susceptible to infections and less able to fight them off effectively.
9. Neurological problems: RTS can result in neurological issues such as seizures, tremors, and loss of coordination.
10. Short stature: Adults with Rothmund-Thomson Syndrome often have short stature and may experience delayed or arrested growth.

It's important to note that not all individuals with RTS will experience all of these symptoms, and the severity of the syndrome can vary widely from person to person. Treatment for Rothmund-Thomson Syndrome typically involves a multidisciplinary approach, including medical management, surgical interventions, and supportive care to address the various physical and developmental challenges associated with the condition.

The tumor is named after Friedrich Krukenberg, a German pathologist who first described it in 1890. It is also known as Krukenberg's tumor or omental tubercle.

Krukenberg tumors are typically small, ranging in size from a few millimeters to several centimeters, and they can be either benign (non-cancerous) or malignant (cancerous). They are often found in the upper part of the omentum, near the diaphragm.

The symptoms of Krukenberg tumor can include abdominal pain, bloating, and weight loss. If the tumor is malignant, it can spread to other parts of the body, such as the lymph nodes or liver.

Krukenberg tumors are rare and account for only about 1% to 2% of all gastrointestinal tumors. They are more common in women than men, and they often affect women in their reproductive years. The exact cause of Krukenberg tumors is not known, but they may be associated with pelvic inflammatory disease or endometriosis.

Treatment for Krukenberg tumor usually involves surgery to remove the tumor and any affected tissue. In some cases, chemotherapy or radiation therapy may also be recommended to kill any remaining cancer cells. The prognosis for Krukenberg tumors is generally good if the tumor is diagnosed and treated early. However, if the tumor is malignant and has spread to other parts of the body, the prognosis can be poorer.

Sjögren's syndrome can affect people of all ages, but it most commonly occurs in women between the ages of 40 and 60. The exact cause of the disorder is not known, but it is believed to be an autoimmune response, meaning that the immune system mistakenly attacks the glands as if they were foreign substances.

Symptoms of Sjögren's syndrome can vary in severity and may include:

* Dry mouth (xerostomia)
* Dry eyes (dry eye syndrome)
* Fatigue
* Joint pain
* Swollen lymph nodes
* Rash
* Sores on the skin
* Numbness or tingling in the hands and feet
* Sexual dysfunction

There is no cure for Sjögren's syndrome, but various treatments can help manage the symptoms. These may include:

* Medications to stimulate saliva production
* Eye drops to moisturize the eyes
* Mouthwashes to stimulate saliva production
* Pain relief medication for joint pain
* Anti-inflammatory medication to reduce swelling
* Immunosuppressive medication to suppress the immune system
* Hormone replacement therapy (HRT) to treat hormonal imbalances.

Sjögren's syndrome can also increase the risk of developing other autoimmune disorders, such as rheumatoid arthritis or lupus. It is important for people with Sjögren's syndrome to work closely with their healthcare provider to manage their symptoms and monitor their condition over time.

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.

The hallmark symptoms of AT are:

1. Ataxia: difficulty with coordination, balance, and gait.
2. Telangiectasias: small, red blood vessels visible on the skin, particularly on the face, neck, and arms.
3. Ocular telangiectasias: small, red blood vessels visible in the eyes.
4. Cognitive decline: difficulty with memory, learning, and concentration.
5. Seizures: episodes of abnormal electrical activity in the brain.
6. Increased risk of cancer: particularly lymphoma, myeloid leukemia, and breast cancer.

The exact cause of AT is not yet fully understood, but it is thought to be due to mutations in the ATM gene, which is involved in DNA damage response and repair. There is currently no cure for AT, but various treatments are available to manage its symptoms and prevent complications. These may include:

1. Physical therapy: to improve coordination and balance.
2. Occupational therapy: to assist with daily activities and fine motor skills.
3. Speech therapy: to improve communication and swallowing difficulties.
4. Medications: to control seizures, tremors, and other symptoms.
5. Cancer screening: regular monitoring for the development of cancer.

AT is a rare disorder, and it is estimated that only about 1 in 40,000 to 1 in 100,000 individuals are affected worldwide. It is important for healthcare providers to be aware of AT and its symptoms, as early diagnosis and intervention can improve outcomes for patients with this condition.

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.

Turner syndrome occurs in approximately 1 in every 2,500 to 3,000 live female births and is more common in girls born to older mothers. The symptoms of Turner syndrome can vary widely and may include:

* Short stature and delayed growth and development
* Infertility or lack of menstruation (amenorrhea)
* Heart defects, such as a narrowed aorta or a hole in the heart
* Eye problems, such as cataracts, glaucoma, or crossed eyes
* Hearing loss or deafness
* Bone and joint problems, such as scoliosis or clubfoot
* Cognitive impairments, including learning disabilities and memory problems
* Delayed speech and language development
* Poor immune function, leading to recurrent infections

Turner syndrome is usually diagnosed at birth or during childhood, based on physical characteristics such as short stature, low muscle tone, or heart defects. Chromosomal analysis can also confirm the diagnosis.

There is no cure for Turner syndrome, but treatment can help manage the symptoms and improve quality of life. Hormone replacement therapy may be used to stimulate growth and development in children, while adults with the condition may require ongoing hormone therapy to maintain bone density and prevent osteoporosis. Surgery may be necessary to correct heart defects or other physical abnormalities. Speech and language therapy can help improve communication skills, and cognitive training may be beneficial for learning disabilities.

The long-term outlook for individuals with Turner syndrome varies depending on the severity of the condition and the presence of any additional health problems. With proper medical care and support, many women with Turner syndrome can lead fulfilling lives, but they may face unique challenges related to fertility, heart health, and other issues.

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... is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. The Bloom ... "Bloom syndrome". Genetics Home Reference. NIH. Retrieved 19 March 2013. De Muyt A, Jessop L, Kolar E, Sourirajan A, Chen J, ... Bloom syndrome protein has been shown to interact with: ATM, CHAF1A, CHEK1, FANCM, FEN1, H2AFX, MLH1 P53, RAD51L3, RAD51, RPA1 ... Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3' → 5' helicase activity. The normal ...
German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... known as paraneoplastic syndromes. Common paraneoplastic syndromes include hypercalcemia, which can cause altered mental state ... Some of these syndromes include: certain inherited mutations in the genes BRCA1 and BRCA2 with a more than 75% risk of breast ... However, such germline mutations (which cause highly penetrant cancer syndromes) are the cause of only about 1 percent of ...
Other DNA repair disorders include: Werner's syndrome: premature aging and retarded growth Bloom's syndrome: sunlight ... German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... Humans born with inherited defects in DNA repair mechanisms (for example, Li-Fraumeni syndrome) have a higher cancer risk. The ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ...
German, J (Mar 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". Am J Hum ... Five of them (xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Down's syndrome, and triple-A syndrome) have a ... Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrich's ... Four (ataxia-telangiectasia, ataxia-telangiectasia-like disorder, Nijmegen breakage syndrome and Alzheimer's disease) are ...
Some segmental progeroid syndromes, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and ... Werner syndrome (WS) Bloom syndrome (BS) Rothmund-Thomson syndrome (RTS) Cockayne syndrome (CS) Xeroderma pigmentosum (XP) ... Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), ... RECQL3/BLM and RECQL4 lead to Werner syndrome (WS), Bloom syndrome (BS), and Rothmund-Thomson syndrome (RTS), respectively. On ...
Bloom syndrome, Fanconi anemia, MUTYH-associated polyposis, Rothmund-Thomson syndrome, Werner syndrome and Xeroderma ... Lynch syndrome), Howel-Evans syndrome of esophageal cancer with tylosis, juvenile polyposis syndrome, Li-Fraumeni syndrome, ... Birt-Hogg-Dubé syndrome, Carney syndrome, familial chordoma, Cowden syndrome, dysplastic nevus syndrome with familial melanoma ... Nevoid basal cell carcinoma syndrome, also known as Gorlin syndrome, is an autosomal dominant cancer syndrome in which the risk ...
German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... known as Li-Fraumeni syndrome. Other inherited tumor suppressor gene syndromes include Rb mutations, linked to retinoblastoma, ... However, such germline mutations (which cause highly penetrant cancer syndromes) are the cause of only about one percent of ... For instance, individuals that are heterozygous for p53 mutations are often victims of Li-Fraumeni syndrome, and that are ...
Ataxia-telangiectasia Bloom syndrome Cockayne syndrome Fanconi anemia Progeria (Hutchinson-Gilford progeria syndrome) Rothmund- ... German J (1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". Am. J. Hum. ... Companion Reviews and Search Terms Bloom s syndrome - Companion Reviews and Search Terms Fanconi s anemia - Companion Reviews ... Thomson syndrome Trichothiodystrophy Werner syndrome Xeroderma pigmentosum Some examples of DNA repair defects causing ...
another example of mitotic recombination is the Bloom's syndrome, which happens due to the mutation in the blm gene. The ... p282 Sanz, Maureen M.; German, James; Cunniff, Christopher (11 March 1993). "Bloom's Syndrome". In Adam, Margaret P.; Ardinger ... The only non-lethal full monosomy occurring in humans is the one causing Turner's syndrome. Around 30% of Turner's syndrome ... An example of this is one of the milder forms of Klinefelter syndrome, called 46,XY/47,XXY mosaic wherein some of the patient's ...
WRN gene in Werner syndrome (WS), BLM gene in Bloom syndrome (BS), and RECQL4 in Rothmund-Thomson syndrome. These syndromes are ... Bloom syndrome Bernstein DA, Keck JL (June 2003). "Domain mapping of Escherichia coli RecQ defines the roles of conserved N- ... The budding yeast Saccharomyces cerevisiae encodes an ortholog of the Bloom syndrome (BLM) protein that is designated Sgs1 ( ... Cells from humans with Bloom syndrome are sensitive to DNA damaging agents such as UV and methyl methanesulfonate indicating ...
Bloom syndrome is associated with mutations in the BLM gene and Werner syndrome is associated with mutations in the WRN gene. ... Yankiwski V, Marciniak RA, Guarente L, Neff NF (2000). "Nuclear structure in normal and Bloom syndrome cells". Proc. Natl. Acad ... In addition to the Rothmund-Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller-Gerold syndromes ... There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in patients carrying deleterious mutations in ...
Yin J, Sobeck A, Xu C, Meetei AR, Hoatlin M, Li L, Wang W (April 2005). "BLAP75, an essential component of Bloom's syndrome ... OB1 binds to Topoisomerase III alpha, while OB2 binds to RMI2 within the Bloom Syndrome complex, and FANCM of the Fanconi ... Mutations in RMI1 are associated with Bloom-Syndrome like disorder. Two patients, both with microcephalic dwarfism came from ... August 2018). "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder". American Journal of Human Genetics. 103 (2): 221-231. ...
Yin J, Sobeck A, Xu C, Meetei AR, Hoatlin M, Li L, Wang W (Apr 2005). "BLAP75, an essential component of Bloom's syndrome ... Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID (Mar 2000). "The Bloom's syndrome gene product ... Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID (Mar 2000). "The Bloom's syndrome gene product ... Wu L, Hickson ID (Nov 2002). "The Bloom's syndrome helicase stimulates the activity of human topoisomerase IIIalpha". Nucleic ...
"Stimulation of flap endonuclease-1 by the Bloom's syndrome protein". J. Biol. Chem. 279 (11): 9847-56. doi:10.1074/jbc. ... hereditary cancer syndromes).[citation needed] Similarly, at least 12 DNA repair genes have frequently been found to be ... "Werner syndrome protein interacts with human flap endonuclease 1 and stimulates its cleavage activity". EMBO J. 20 (20): 5791- ...
In Bloom syndrome, those affected most often die of cancer. Aging (senescence) increases vulnerability to age-associated ... Bloom, George S. (2014-04-01). "Amyloid-β and Tau: The Trigger and Bullet in Alzheimer Disease Pathogenesis". JAMA Neurology. ... Those with Werner's syndrome experience osteoporosis, cataracts, and, cardiovascular disease, but not neurodegeneration or ... Alzheimer's disease; those with Down syndrome have type 2 diabetes and Alzheimer's disease, but not high blood pressure, ...
"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Molecular and Cellular Biology. 23 (10): 3417-26. ...
Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". ... May 2003). "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Molecular and Cellular Biology. 23 (10 ... and sequesters another DNA repair complex called the Bloom Syndrome complex away from FANCM. As with FANCM depletion, this ...
"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Molecular and Cellular Biology. 23 (10): 3417-26. ...
"Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". J. Biol. Chem. 277 (43): 41110- ... "Stimulation of flap endonuclease-1 by the Bloom's syndrome protein". J. Biol. Chem. 279 (11): 9847-56. doi:10.1074/jbc. ... and functional interaction between Werner and Bloom syndrome proteins". J. Biol. Chem. 277 (24): 22035-44. doi:10.1074/jbc. ... Werner syndrome is caused by mutations in the WRN gene. More than 20 mutations in the WRN gene are known to cause Werner ...
Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". Mol. ... It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi. FA is characterized by bone marrow ... Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific ... This is in contrast to Diamond-Blackfan anemia, which affects only erythrocytes, and Shwachman-Diamond syndrome, which ...
Ellis NA, Ciocci S, German J (February 2001). "Back mutation can produce phenotype reversion in Bloom syndrome somatic cells". ... Marfan syndrome is also an example of dominant negative mutation and haploinsufficiency. Lethal mutations result in the instant ... Atopic eczema and dermatitis syndrome are common diseases caused by a null mutation of the gene that activates filaggrin. ... Gong, Lizhi Ian; Suchard, Marc A; Bloom, Jesse D (14 May 2013). Pascual, Mercedes (ed.). "Stability-mediated epistasis ...
These include: Turner syndrome, Klinefelter's syndrome, Cystic fibrosis, and Bloom syndrome. Wikimedia Commons has media ...
Examples of such genetic disorders include xeroderma pigmentosum and Bloom syndrome. Balding: AKs are commonly found on the ...
Bloom developed chronic fatigue syndrome in 1988, which left him housebound. The 2007 book Chronic Fatigue Syndrome For Dummies ... Bloom would go on to found one of the largest public relations firms in the music industry. In 1974 Bloom was made the head of ... Bloom considers himself a non-militant yet "stone-cold atheist" and lives in Brooklyn, New York. In 1986, Bloom joined with Bob ... Bloom, Howard K. (2017). How I Accidentally Started The Sixties. Rare Bird Books. ISBN 978-1945572913. Bloom, Howard K. (2016 ...
2003). "A Multiprotein Nuclear Complex Connects Fanconi Anemia and Bloom Syndrome". Mol. Cell. Biol. 23 (10): 3417-26. doi: ...
The enzyme is thought to play a role in Bloom's syndrome. It has been proposed that Bloom's syndrome involves the induction of ... Karow JK, Constantinou A, Li JL, West SC, Hickson ID (June 2000). "The Bloom's syndrome gene product promotes branch migration ...
Bloom syndrome (homozygous null mutation in BLM DNA repair enzyme. similar mechanism and etiology to ataxia telangiectasia) ... Osler-Weber-Rendu syndrome) Ataxia-telangiectasia Sturge-Weber syndrome, a nevus formation in the skin supplied by the ... are one of the features of the acronymically named CREST syndrome, a form of systemic scleroderma. The syndrome recognises the ... Naevus flammeus (port-wine stain) Klippel-Trenaunay syndrome Maffucci syndrome (multiple enchondromas and hemangiomas) ...
SCE is elevated in pathologies including Bloom syndrome, having recombination rates ~10-100 times above normal, depending on ... "Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome". Proc Natl Acad Sci U S A. 86 (2): 670-4 ... "Increased rate of spontaneous mitotic recombination in T lymphocytes from a Bloom's syndrome patient using a flow-cytometric ...
One of these helicases, the Bloom syndrome protein, contains an arginine finger which assists in its hydrolysis of ATP. In ... the arginine finger of the Bloom syndrome protein is Arg982. The RecQ helicase, along with most proteins containing arginine ... "The arginine finger of the Bloom syndrome protein: its structural organization and its role in energy coupling". Nucleic Acids ...
... of fetuses affected by Down syndrome exhibit this defect, 5% of fetuses flagged by the test do not have Down syndrome. ... Cunningham, F; Leveno, KJ; Bloom, SL; Spong, CY; Dashe, JS; Hoffman, BL; Casey BM, BM; Sheffield, JS (2013). "Fetal Imaging". ...
Bloom, P. (January 2007). "Religion is natural". Developmental Science. 10 (1): 147-151. doi:10.1111/j.1467-7687.2007.00577.x. ... Geschwind syndrome (Paul especially), and abnormal experiences associated with temporal lobe epilepsy (TLE). The authors ... Bloom, P. (January 2007). "Religion is natural". Developmental Science. 10 (1): 147-151. doi:10.1207/s15327582ijpr1404_1. PMID ...
Lunze K, Bloom DE, Jamison DT, Hamer DH (January 2013). "The global burden of neonatal hypothermia: systematic review of a ... Postmature births carry risks for both the mother and the baby, including meconium aspiration syndrome, fetal malnutrition, and ... Rouse DJ, Weiner SJ, Bloom SL, Varner MW, et al. (October 2009). "Second-stage labor duration in nulliparous women: ... which can help the fetal lungs to mature enough to reduce morbidity and mortality from infant respiratory distress syndrome. ...
Bloom, Madison; Kim, Michelle (August 19, 2019). "Billie Eilish Scores First No. 1 Single, Ending "Old Town Road"'s 19-Week Run ... She stated she has Tourette syndrome, synesthesia, and has experienced depression. This included an incident where she had ... Bloom, Madison (December 5, 2019). "Billie Eilish Directs Her New "xanny" Video: Watch". Pitchfork. Archived from the original ... Engelman, Nicole (November 27, 2018). "Billie Eilish Reveals She Has Tourette Syndrome After Compilation of Her Tics Emerges ...
Smith, Mikey; Bloom, Dan (2 March 2020). "Coronavirus action plan agreed at emergency COBRA meeting chaired by PM". mirror. ... caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The first case in the Republic of Albania was reported ... caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The first case in Turkey was recorded on 11 March, when ... caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The Holy See reported the first case of infection in ...
Details of a study published in Nature Medicine suggest people are more likely to get Guillain-Barre Syndrome (GBS), a rare ... "Covid-19: UK to US travel to restart and Chelsea Flower Show back in bloom". BBC News. 20 September 2021. Retrieved 20 ... Older people, those with Down's Syndrome, and weakened immune systems are among those identified as at high risk of illness ...
In a press statement, Bridgers expounded upon the song's meaning: This song is about impostor syndrome. About being in Japan ... Bloom, Madison (July 21, 2020). "Watch Phoebe Bridgers Perform "Kyoto" on Colbert". Pitchfork. Retrieved December 19, 2020. ...
Duke uses the high powered magnets in the ship to grab onto Bloom. The more Bloom struggles, the stronger the magnets get, this ... Meanwhile, John "Smiley" Bender Jr., a teen with Möbius syndrome, whose parents forced him into surgery that left him with a ... Bloom (Daryl Gutierrez) - Duke's childhood friend and former GCPD engineer turned biokinetic villain. Bloom became obsessed ... Bloom) at age 12. His quick-wit makes him a talented detective, figuring out the identities of Bruce Wayne as Batman, Dick ...
Prasad AS, Miale A, Farid Z, Sandstead HH, Schulert AR (April 1963). "Zinc metabolism in patients with the syndrome of iron ... Myers SS, Zanobetti A, Kloog I, Huybers P, Leakey AD, Bloom AJ, et al. (June 2014). "Increasing CO2 threatens human nutrition ...
Gross, Hanns (1990). Rome in the Age of Enlightenment: the Post-Tridentine syndrome and the ancient regime. New York: Cambridge ... Rococo was already in full bloom in France and Germany). Coins are purportedly meant to be thrown using the right hand over the ...
Kramer, Lindsay (July 23, 2014). "Syracuse Chiefs reliever Rafael Martin makes his pitch as late-blooming prospect". Syracuse. ... In June 2021, Martin was diagnosed with Guillain-Barré syndrome. Castillo, Jorge (September 24, 2016). "For American-born ... People with Guillain-Barré syndrome, Potomac Nationals players, Saraperos de Saltillo players, Scottsdale Scorpions players, ...
Squire L, Berg D, Bloom FE, du Lac S, Ghosh A, Spitzer NC (17 December 2012). Fundamental Neuroscience. Academic Press. pp. 884 ... Rao R, Desai NS (June 2002). "OxyContin and neonatal abstinence syndrome". Journal of Perinatology. 22 (4): 324-325. doi: ...
With the help of Bloom and Crawford, Graham secures a deal to set a trap for Dolarhyde using Lecter as bait. Graham seems to ... Kurchak, Sarah (July 24, 2013). "Television on the Spectrum: The Best and Worst Depictions of Asperger Syndrome on TV". ... The incident alienates Bloom from Graham, as she sees it confirming his alleged derangement and transformation into a murderer ... Alana Bloom (Caroline Dhavernas), but she turns him down because of his instability. Throughout the season, Graham's sanity ...
But he was not simply a copyist, as compositions such as "When the Catfish Is in Bloom" or "Stomping Tonight on the ... Although he had recovered from Epstein-Barr syndrome after five years, he would spend much of the early 1990s living in poverty ... In 1986, Fahey contracted Epstein-Barr syndrome, a long-lasting viral infection, which exacerbated his diabetes and other ...
Cooper, JR; Bloom, FE; Roth, RH (2003). The Biochemical Basis of Neuropharmacology. Oxford University Press US. ISBN 978-0-19- ... ISBN 978-1-58243-162-8. Collins, S; McLean CA; Masters CL (2001). "Gerstmann-Straussler-Scheinker syndrome, fatal familial ... 2007 Bloom FE (1975). Schmidt FO, Worden FG, Swazey JP, Adelman G (eds.). The Neurosciences, Paths of Discovery. MIT Press. p. ...
In fact, these episodes are so similar that they reused the effects shot of the asteroid from The Paradise Syndrome as a stand- ... Bloom, Steven D. (2016). The Physics and Astronomy of Science Fiction: Understanding Interstellar Travel, Teleportation, Time ... David Alan Mack, also a Star Trek novelist, remarks on the episode's peculiar similarity to "The Paradise Syndrome", which ...
"Cyber Stockholm Syndrome - Single by Rina Sawayama on Apple Music". iTunes Store. Retrieved 29 January 2021. "Cyber Stockholm ... Bloom, Madison; Monroe, Jazz (3 April 2020). "Rina Sawayama Shares New Song "Chosen Family": Listen". Pitchfork. Archived from ... That's what 'Cyber Stockholm Syndrome' is about: pessimism, optimism, anxiety, and freedom." In 2017, the singles "Alterlife" ... "Cyber Stockholm Syndrome" premiered on The Fader. Sawayama described the genesis of the themes of the track as: "the digital ...
Bloom syndrome and Rothmund-Thomson syndrome. In addition to human inherited syndromes, experimental mouse models with genetic ... and Cockayne syndrome (mean lifespan 13 years). Werner syndrome is due to an inherited defect in an enzyme (a helicase and ... Werner syndrome (WS), a premature aging condition in humans, is caused by a genetic defect in a RecQ helicase that is employed ... Cockayne Syndrome is due to a defect in a protein necessary for the repair process, transcription coupled nucleotide excision ...
Goldberg, Gary; Bloom, Karen K. (1990). "The Alien Hand Sign". American Journal of Physical Medicine & Rehabilitation. 69 (5): ... Alien hand syndrome (AHS) or Dr. Strangelove syndrome is a category of conditions in which a person experiences their limbs ... Apraxia and Related Syndromes at eMedicine Kischka, U; Ettlin, TM; Lichtenstern, L; Riedo, C (1996). "Alien hand syndrome of ... Strangelove syndrome" was suggested as the official name for AHS. This was not approved, though it is sometimes used as an ...
Bloom syndrome, Fanconi anemia and Nijmegen breakage syndrome are associated with short telomeres. However, the genes that have ... Premature aging syndromes including Werner syndrome, Progeria, Ataxia telangiectasia, Ataxia-telangiectasia like disorder, ... Cri du chat syndrome (CdCS) is a complex disorder involving the loss of the distal portion of the short arm of chromosome 5. ... 2018). "TA-65, A Telomerase Activator improves Cardiovascular Markers in Patients with Metabolic Syndrome". Current ...
Ruth Solski, Fairy Tales Using Bloom's Taxonomy Gr. 3-5, page 15. Van Gool, Snow White, page 39. Nelson Thornes, Snow White and ... Betsy Cohen, The Snow White Syndrome: All About Envy, pages 6, 14. Jo Eldridge Carney, Fairy Tale Queens: Representations of ... Harold Bloom opined that the three "temptations" all "testify to a mutual sexual attraction between Snow White and her ...
"Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". The Journal of Biological ... "Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases". The Journal of Biological ... Werner syndrome ATP-dependent helicase. Telomerase is an enzyme that works to create telomeric ends for DNA, and it is thought ...
His 1999 books The Laws of Prosperity (繁栄の法, Han-ei no hō) and The Syndrome of the Unhappy (幸福になれない症候群, Kōfuku-ni-Narenai Shōkō ... Donnelly, Beau (2 November 2015). "Blooming 'Happy Science' religion channels Disney, Gandhi, Jesus and Thatcher". The Age. ...
Tanner EM, Bloom MS, Wu Q, Kannan K, Yucel RM, Shrestha S, Fitzgerald EF (February 2018). "Occupational exposure to ... and respiratory distress syndrome in those chronically exposed. In a 2010 study, blood serum levels of PFOA were significantly ...
It is often found on coastal cliffs in association with thrift and kidney vetch and blooms from May to September. Sheep's bit ... and therefore this plant is characterized by a generalized pollination syndrome. The flowers are visible under ultraviolet ...
Barker EL, Blakely RD (1995). "Norepinephrine and Serotonin Transporters". In Kupfer DJ, Bloom FE (eds.). Psychopharmacology: ... phenotype of impaired neuronal reuptake of norepinephrine has been implicated in both postural orthostatic tachycardia syndrome ...
Crutchlow MF, Bloom RD (2007). "Transplant-associated hyperglycemia: a new look at an old problem". Clin J Am Soc Nephrol. 2 (2 ... overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways". Hum. Mol. Genet. 9 (11): 1681-90. ... overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways". Hum. Mol. Genet. 9 (11): 1681-90. ... steroid-resistant nephrotic syndrome, atopic dermatitis, severe corticosteroid-dependent asthma, severe ulcerative colitis, ...
Some shellfish can store this toxin for several weeks after a harmful algal bloom passes, but others, such as butter clams, are ... Paralytic shellfish poisoning (PSP) is one of the four recognized syndromes of shellfish poisoning, which share some common ... 33-8. ISBN 978-0-444-01030-8. Azanza, Rhodora V.; Max Taylor, F. J. R. (2001). "Are Pyrodinium Blooms in the Southeast Asian ... Van Dolah, Frances M. (2005). "Effects of Harmful Agal Blooms". In Reynolds, John E. (ed.). Marine Mammal Research: ...
Bloom, H.J.; Richardson, W.W. (1957). "Histological grading and prognosis in breast cancer; A study of 1409 cases of which 359 ... There is some evidence that breast cancers that arise in familial clusters, such as Hereditary breast-ovarian cancer syndrome, ... The Nottingham system is also called the Bloom-Richardson-Elston system (BRE), or the Elston-Ellis modification of the Scarff- ... 1998). "Comparison of the prognostic value of Scarff-Bloom-Richardson and Nottingham histological grades in a series of 825 ...
Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, ... Bloom syndrome. ... Syndrome-causing mutations of the BLM gene in persons in the Blooms Syndrome Registry. Hum Mutat. 2007 Aug;28(8):743-53. doi: ... Men with Bloom syndrome usually do not produce sperm and as a result are unable to father children (infertile). Women with the ...
Bloom D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity. AMA Am J Dis ... Clinical characteristics: Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune ... Three new BLM gene mutations associated with Bloom syndrome. Genet Test. 2008;12:257-61. - PubMed ... Noonan Syndrome. Roberts AE. Roberts AE. 2001 Nov 15 [updated 2022 Feb 17]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean ...
Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to ... Bloom syndrome protein BLM database BLMbase: Mutation registry for Bloom Syndrome BLM BLM ... The range of clinical features in persons with Bloom syndrome (BSyn) has been tracked through the Bloom Syndrome Registry. The ... who founded the Bloom Syndrome Registry and who dedicated much of his career to the understanding of Bloom syndrome and the ...
Learn about bloom syndrome, a disorder that causes short stature, skin rash and an increased risk of cancer, and find helpful ... Bloom syndrome is an inherited genetic disorder that causes short stature, skin rash and an increased risk of cancer. Symptoms ... Bloom syndrome exhibits autosomal recessive inheritance, which means that both parents must be carriers to have a 25% chance to ...
Bloom Syndrome--genetics. DNA Helicases--metabolism. Genomic Instability. Neoplasms--etiology. Neoplasms--genetics. Neoplasms-- ... A Multiprotein Complex in DNA Damage Response Network of Fanconi Anemia, Bloom Syndrome and Breast Cancer ... Genomic instability and cancer : insights from analysis of Bloom syndrome / Ian Hickson. ...
Discovery and characterisation of a novel allosteric inhibitor-binding site in human Bloom syndrome protein. ... Loss of function of WRN underlies the complex progeria Werner Syndrome; defects in BLM underlie Bloom Syndrome, which is ... 1997) A putative nucleic acid-binding domain in blooms and Werners syndrome helicases Trends in Biochemical Sciences 22:417- ... 2010) Structure and function of the regulatory HRDC domain from human bloom syndrome protein Nucleic Acids Research 38:7764- ...
Bloom syndrome patients and mice display accelerated epigenetic aging.. Lee, Jamie; Zhang, Joshua; Flanagan, Maeve; Martinez, ... Bloom syndrome (BSyn) is an autosomal recessive disorder caused by variants in the BLM gene, which is involved in genome ... Overall, we find that Bloom syndrome is associated with accelerated epigenetic aging effects in multiple tissues and more ...
Bloom syndrome. Bloom syndrome results in skin that is sensitive to sun exposure, and usually the development of a butterfly- ... LIG4 syndrome (Ligase IV syndrome) is a rare disease associated with mutations in DNA ligase 4 and interferes with dsDNA break- ... Ligase IV syndrome causes immunodeficiency in individuals and is commonly associated with microcephaly and marrow hypoplasia.[ ... Genetic deficiencies in human DNA ligases have been associated with clinical syndromes marked by immunodeficiency, radiation ...
BLMbase: Mutation registry for Bloom Syndrome Lunds Universitet. Department of Experimental Medical Science ... MYELODYSPLASIC SYNDROMES AND SECONDARY CHEMICAL AND RADIO-INDUCED LEUKEMIA OBSERVATORY FROM GFM CENTRES - MDS Registry GHU AP- ... Collection of samples of DNA repair syndromes integrated into the National Biobank of Rare Diseases (BioNER) IIB Sant Pau - ... MDS Registry: German myelodysplastic syndromes patient registry Universit tsklinikum D sseldorf. Klinik f r H matologie, ...
Berardinelli-Seip syndrome), lamin A/C (Dunnigan syndrome), and Alstrom syndrome gene. Fibroblast growth factor defects include ... and acanthosis nigricans syndrome (HAIR-AN syndrome). This syndrome is often familial, affecting primarily young women ( ... acanthosis nigricans has been associated with numerous syndromes (see the Table in Pathophysiology). The type A syndrome and ... 12] Acanthosis nigricans has been shown to be a reliable early marker for metabolic syndrome in pediatric patients. [13, 14] ...
Search Results for - BLOOM SYNDROME Add Quotes (and perform an exact match search). ...
Bloom syndrome: MedlinePlus Genetics (National Library of Medicine) * Cowden syndrome: MedlinePlus Genetics (National Library ... Peutz-Jeghers syndrome: MedlinePlus Genetics (National Library of Medicine) * Rhabdoid tumor predisposition syndrome: ... Paraneoplastic Syndromes (National Institute of Neurological Disorders and Stroke) * Physical Activity and Cancer (National ... DICER1 syndrome: MedlinePlus Genetics (National Library of Medicine) * Genetic Testing for Hereditary Cancer Susceptibility ...
Bloom Syndrome and our test Bloom syndrome is a rare genetic disorder characterized by impaired growth and increased risk of ... Sjögren-Larsson Syndrome Tay-Sachs Disease Tyrosinemia Type I Usher Syndrome Type 1F Usher Syndrome Type 3A Zellweger Spectrum ... Bloom Syndrome Canavan Disease Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) Cystic Fibrosis D-Bifunctional Protein ... Symptoms of Bloom syndrome may vary between people with the condition even if they have the same genetic variants. ...
Interaction between the helicases genetically linked to Fanconi anemia group J and Blooms syndrome. EMBO J (2011) 30: 692-705. ... Aggarwal M, Sommers JA, Shoemaker RH, Brosh RM Jr., Inhibition of helicase activity by a small molecule impairs Werner syndrome ... defective in the premature aging disease Werner syndrome. Use of small molecules to target human helicases for inhibition (or ...
Bloom syndrome. *Fanconi syndrome16 *Klinefelter syndrome17 *Neurofibromatosis. Ionizing Radiation. An increase in leukemia has ... Inherited Syndromes. Children with Down syndrome (DS) have a roughly 20-fold increased risk of developing childhood leukemia ... Children with Down syndrome (DS) have a roughly 20-fold increased risk of developing childhood leukemia compared to children ... "Child and maternal household chemical exposure and the risk of acute leukemia in children with Downs syndrome: a report from ...
Syndrome de Bloom : hétérozygotie et prédisposition au cancer Mounira Amor-Guéret pp. 1178-1180 ...
The Blooms syndrome helicase can promote the regression of a model replication fork.. Ralf C; Hickson ID; Wu L. J Biol Chem; ... Point mutations causing Blooms syndrome abolish ATPase and DNA helicase activities of the BLM protein.. Bahr A; De Graeve F; ... The Blooms syndrome gene product promotes branch migration of holliday junctions.. Karow JK; Constantinou A; Li JL; West SC; ... 5. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis.. Amor-Guéret M. Cancer Lett; 2006 May; 236(1):1-12 ...
In a blog post, CEO Anne Wojcicki called the Bloom Syndrome test approval "an important first step [her emphasis] in fulfilling ... It also laid out how 23andMe got approval for the Bloom Syndrome test, providing a regulatory framework for the way a genetic ... In a release, the company added, "23andMe will not immediately begin returning Bloom syndrome Carrier Status test results or ... 23andMe performed two separate studies to demonstrate that their test is accurate in detecting Bloom syndrome carrier status. ...
Werners syndrome, Blooms syndrome, Downs syndrome, and Cockaynes syndrome. * Genes responsible for recessive conditions ... Genes which are relevant to progeroid syndromes in which several age-related changes are accelerated, e.g. ...
BLM defects represent the underlying cause of Bloom Syndrome, a rare genetic disorder that is marked by strong cancer ... MeSH Terms: Base Pairing; Bloom Syndrome/genetics; DNA Repair/genetics; DNA Replication/genetics; DNA, Single-Stranded/ ... Abstract: Bloom helicase (BLM) and its orthologs are essential for the maintenance of genome integrity. ...
This report describes emergency department visits related to harmful algal bloom exposure. ... This report describes emergency department visits related to harmful algal bloom exposure. ... TABLE 2. Primary syndrome categories associated with harmful algal bloom exposure used among 321 harmful algal bloom-associated ... Syndrome categories recorded for ED visits were consistent with harmful algal bloom exposures through inhalation (e.g., ...
Bloom Syndrome[6]. *Conjunctival telangiectasia seen predominantly on the bulbar conjunctiva. *Other features to look for: * ... A Case of Bloom Syndrome with Conjunctival Telangiectasia. Pediatric Dermatology. 1997;14(2):120-124. doi:10.1111/j.1525- ... Alport syndrome[13]. *Ocular Features *Perilimbal conjunctival telangiectasia, usually at 3 and 9 o clock ... Decock C, Laey J, Leroy B, Kestelyn P. Alport syndrome and conjunctival telangiectasia. Bulletin de la Société belge ...
Blooms Syndrome. Ashkenazi Jews are the most prone ethnicity to Blooms Syndrome, with the genetic condition afflicting one in ... Blooms Syndrome increases the risk of certain types of cancer in childhood, as well as chronic pulmonary disease and type 2 ... 8. Noonan Syndrome. Noonan Syndrome is a fairly common autosomal dominant congenital disorder that occurs when one of four ... 3. Down Syndrome. Down Syndrome, a common chromosomal abnormality that effects approximately 1 in 1000 newborns (particularly ...
Predisposing genetic conditions are associated with ALL, including Down syndrome, Bloom syndrome, Wiskott-Aldrich syndrome, ... 93] In contrast, outcomes tend to be better in AML in children with Down syndrome than in children without Down syndrome. ... 113] DiGeorge syndrome is part of the family of 22q11.2 deletion syndromes, and is characterized by immunodeficiency, ... Other marrow failure syndromes include Kostmann disease, Shwachman-Diamond syndrome (SDS), dyskeratosis congenita (DC), and ...
Bloom Syndrome Entry term(s). Bloom Torre Machacek Syndrome Blooms Syndrome Blooms Syndromes Bloom-Torre-Machacek Syndrome ... Syndrome de Bloom Entry term(s):. Bloom Torre Machacek Syndrome. Blooms Syndrome. Blooms Syndromes. Bloom-Torre-Machacek ... Bloom Syndrome - Preferred Concept UI. M0002734. Scope note. An autosomal recessive disorder characterized by telangiectatic ... The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.. Allowable Qualifiers:. BL blood. CF cerebrospinal fluid. CI ...
Blooms syndrome (Q82.8). *Cockaynes syndrome (Q87.19). *calculus of kidney (N20.0). *combined immunodeficiency disorders (D81 ...
Bloom S et al. Congenital rubella syndrome in Morocco: a rapid retrospective assessment. Lancet, 2005, 365:135-141. ... Control of rubella and congenital rubella syndrome (CRS) in developing countries, part 1: burden of disease from CRS. Bulletin ... Cutts FT, Vynnycky E. Modelling the incidence of congenital rubella syndrome in developing countries. International Journal of ... Primary investigation of 31 infants with suspected congenital rubella syndrome in Sudan. Clinical Microbiology and Infection, ...
Scott GB, Buck BE, Leterman JG, Bloom FL, Parks WP. Acquired immuno- deficiency syndrome in infants. N Engl J Med 1984;310:76- ... deficiency syndrome. International Conference on Acquired Immuno- deficiency Syndrome (AIDS), Atlanta, Georgia, April 1985. * ... Immune deficiency syndrome in children. JAMA 1983;249:2345-9. * Ziegler JB, Cooper DA, Johnson RO, Gold J. Postnatal ... The consultants also included the mother of a child with acquired immunodeficiency syndrome (AIDS), a legal advisor to a state ...
  • 20. Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein. (
  • 3. [Function of RecQ family helicases and Bloom's syndrome]. (
  • 6. Cell cycle regulation of the endogenous wild type Bloom's syndrome DNA helicase. (
  • 7. Functions of RecQ family helicases: possible involvement of Bloom's and Werner's syndrome gene products in guarding genome integrity during DNA replication. (
  • 9. The Bloom's syndrome helicase: keeping cancer at bay. (
  • 11. Bloom's syndrome. (
  • 12. The Bloom's syndrome gene product promotes branch migration of holliday junctions. (
  • 13. Novel pro- and anti-recombination activities of the Bloom's syndrome helicase. (
  • 15. The Bloom's syndrome helicase suppresses crossing over during homologous recombination. (
  • 16. Bloom's syndrome protein is required for correct relocalization of RAD50/MRE11/NBS1 complex after replication fork arrest. (
  • 17. The Bloom's syndrome helicase can promote the regression of a model replication fork. (
  • 19. Bloom's syndrome protein response to ultraviolet-C radiation and hydroxyurea-mediated DNA synthesis inhibition. (
  • The team also observed protein-protein interaction between RUNX proteins and BLM - a protein that is impaired in the genetic disorder Bloom's syndrome - during the process of DNA repair. (
  • A defining feature of Bloom's syndrome is an elevated frequency of sister chromatide exchanges. (
  • Mutations of the BLM gene can result in Bloom's Syndrome, an autosomal recessive disorder, which leads to cancer predisposition. (
  • Moreover, these compounds demonstrated cellular activity by inducing sister chromatid exchanges, a hallmark of Bloom's Syndrome, and via selective inhibition of cell proliferation of BLM+ cells over BLM- cells. (
  • BLM (Bloom syndrome protein) is a RECQ-family helicase involved in the dissolution of complex DNA structures and repair intermediates. (
  • The DNA Helicase Section was the first to discover a small molecule inhibitor of the WRN helicase, defective in the premature aging disease Werner syndrome. (
  • Aggarwal M, Sommers JA, Shoemaker RH, Brosh RM Jr., Inhibition of helicase activity by a small molecule impairs Werner syndrome helicase (WRN) function in the cellular response to DNA damage or replication stress. (
  • 2. Bloom helicase is involved in DNA surveillance in early S phase in vertebrate cells. (
  • 18. Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase. (
  • Bloom helicase (BLM) and its orthologs are essential for the maintenance of genome integrity. (
  • The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (
  • BLM, the helicase mutated in Bloom syndrome, is found in protein complexes together with topoisomerase IIIa (TOP3A) and a newly identified member, the RECQ-mediated genome instabilitity 1 (RMI1) protein, that process double Holliday junction intermediates into non-crossover recombinants [ 2 - 5 ]. (
  • In order to test this hypothesis we analysed in this study polymorphisms in the RMI1 , TOP3A and BLM , and their association with cancer risk in available case-control materials, namely AML/MDSs (acute myeloid leukemia and myelodysplastic syndromes), malignant melanoma, and bladder and breast cancer. (
  • The difference between the sexes is likely due to the more common occurrence of antecedent hematologic disorders such as myelodysplastic syndrome (MDS) in men because advanced MDS and similar disorders frequently evolve into AML. (
  • 5. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. (
  • Bloom syndrome (BSyn) is an autosomal recessive disorder caused by variants in the BLM gene , which is involved in genome stability . (
  • Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. (
  • These have been subdivided into insulin-resistance syndromes and fibroblast growth factor defects. (
  • Insulin-resistance syndromes include those with mutations in the insulin receptors (ie, leprechaunism, Rabson-Mendenhall syndrome), peroxisome proliferator-activated receptor gamma (ie, type 1 diabetes with acanthosis nigricans and hypertension), 1-acylglycerol-3-phosphate O-acyl transferase-2 or seipin (Berardinelli-Seip syndrome), lamin A/C (Dunnigan syndrome), and Alstrom syndrome gene. (
  • Evidence from cell studies indicates that persistent organic pollutants (POP) can induce insulin resistance, an essential component of the metabolic syndrome (MetS). (
  • Mutations in the BLM gene cause Bloom syndrome. (
  • Mutations altering BLM function are associated with highly elevated cancer susceptibility (Bloom syndrome). (
  • Klippel-Trenaunay syndrome can be caused by mutations in the PIK3CA gene. (
  • The PIK3CA gene mutations associated with Klippel-Trenaunay syndrome alter the p110α protein. (
  • Klippel-Trenaunay syndrome is one of several overgrowth syndromes, including megalencephaly-capillary malformation syndrome , that are caused by mutations in the PIK3CA gene. (
  • Because not everyone with Klippel-Trenaunay syndrome has a mutation in the PIK3CA gene, it is possible that mutations in unidentified genes may also cause this condition. (
  • Previously, we reported the emergence and spread of mutant Middle East respiratory syndrome coronavirus bearing spike mutations (I529T or D510G) with reduced affinity to human receptor CD26 during the outbreak. (
  • Noonan Syndrome is a fairly common autosomal dominant congenital disorder that occurs when one of four chromosomes is affected. (
  • Other hematologic disorders, such as myelofibrosis and aplastic anemia, and congenital disorders, such as Bloom syndrome and Down syndrome, also increase AML risk. (
  • Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. (
  • Bloom syndrome is an inherited genetic disorder that causes short stature, skin rash and an increased risk of cancer. (
  • 1, 2] Silver-Russell syndrome is characterized by intrauterine and postnatal growth retardation leading to a small-for-gestational-age (SGA) infant at birth, feeding difficulties during infancy, short stature, body asymmetry, characteristic triangular facies with prominent forehead, and several other anomalies. (
  • The announcement came in a release late Thursday from the regulator that said it's authorizing 23andMe to market a specific test to consumers for Bloom Syndrome, a rare inherited disorder associated with short stature and various cancers that often result in death by the mid-20s. (
  • BLM defects represent the underlying cause of Bloom Syndrome, a rare genetic disorder that is marked by strong cancer predisposition. (
  • Bloom syndrome is a rare disorder. (
  • Tourette syndrome (TS) is a common, chronic neuropsychiatric disorder characterized by the presence of fluctuating motor and phonic tics. (
  • Although many of the descriptions about the disorder, which now bears his name [Tourette syndrome (TS)], have been revised, his belief that tics are a neurological movement disorder and not a psychiatric condition persists to the present ( Goetz and Klawans, 1982 ). (
  • Klippel-Trenaunay syndrome is almost always sporadic, which means that it occurs in people with no history of the disorder in their family. (
  • National syndromic surveillance data identified 321 emergency department visits related to harmful algal bloom exposure during 2017-2019. (
  • A total of 321 harmful algal bloom-associated ED visits were identified during January 1, 2017-December 31, 2019. (
  • Down Syndrome, a common chromosomal abnormality that effects approximately 1 in 1000 newborns (particularly in older expectant mothers), results when an extra copy of genes occurs on chromosome 21. (
  • A Case of Bloom Syndrome with Conjunctival Telangiectasia. (
  • Bloom syndrome exhibits autosomal recessive inheritance , which means that both parents must be carriers to have a 25% chance to have a child with the condition. (
  • Basic demographic information for patients with harmful algal bloom-associated ED visits was summarized by frequency and percentage. (
  • Syndromic surveillance data are useful for studying the extent of harmful algal bloom-associated illness. (
  • To explore the utility of syndromic surveillance data for studying health effects from harmful algal bloom exposures, CDC queried emergency department (ED) visit data from the National Syndromic Surveillance Program (NSSP) for harmful algal bloom exposure-associated administrative discharge diagnosis codes and chief complaint text terms related to harmful algal bloom exposure ( 6 ). (
  • and defects in RECQ4 are associated with Rothmund-Thompson syndrome, which displays growth retardation, skeletal abnormalities and premature ageing. (
  • Abnormalities of spontaneous growth hormone (GH) secretion and subnormal responses to provocative growth hormone stimulation testing have been reported in a significant number of children with Silver-Russell syndrome. (
  • People with Bloom syndrome have an increased risk of cancer. (
  • Bloom syndrome is a condition characterised by growth inhibition, light sensitivity, and high incidence of cancer in early life [ 1 ]. (
  • Increasing awareness so that more patients know to mention harmful algal bloom exposures and more physicians know to ask about them could improve documentation of health effects and enable further use of health records for health studies. (
  • The extent to which harmful algal bloom exposures cause human illness or long-term health effects is unknown. (
  • Improving the documentation of harmful algal bloom exposures in medical records would further benefit future health studies. (
  • Genetic changes that allow cells to divide in an uncontrolled way lead to the cancers that occur in people with Bloom syndrome. (
  • As the number of blooms increases annually, the likelihood of negative health outcomes (e.g., respiratory or gastrointestinal illness) from exposure also increases ( 4 , 5 ). (
  • The unexpectedly large outbreak of Middle East respiratory syndrome in South Korea in 2015 was initiated by an infected traveler and amplified by several "superspreading" events. (
  • Middle East respiratory syndrome coronavirus (MERS-CoV) is a newly emerging zoonotic pathogen that causes an acute and fatal respiratory disease ( 1 ). (
  • The consultants also included the mother of a child with acquired immunodeficiency syndrome (AIDS), a legal advisor to a state education department, and several pediatricians who are experts in the field of pediatric AIDS. (
  • A retrospective study by Marsaud et al found digestive problems and malnutrition to be common in children with Silver-Russell syndrome. (
  • Despite description of this syndrome in the late 19th century, there remain numerous unanswered neurobiological questions. (
  • An increase in harmful algal bloom-associated ED visits occurred during warmer months (June-October), consistent with seasonal fluctuations of blooms and recent publications ( 6, 7 ). (
  • Other complications of Klippel-Trenaunay syndrome can include a type of skin infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), and internal bleeding from abnormal blood vessels. (
  • Bloom syndrome patients and mice display accelerated epigenetic aging. (
  • Chief complaint text terms are also used to categorize visits into many broad, medically similar syndromes using prebuilt algorithms. (
  • For the current analysis, a query was created that comprises main terms from the chief complaint (e.g., red tide, algae) along with discharge diagnostic codes associated with exposure to harmful algal blooms ( International Classification of Diseases, Tenth Revision, Clinical Modification [ICD-CM-10]) codes and their corresponding Systematized Nomenclature of Medicine [SNOMED]* Clinical Terms codes). (
  • Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. (
  • Harmful algal and cyanobacterial blooms are large colonies of algae or cyanobacteria that can harm humans, animals, and the environment. (
  • Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. (
  • Veins deep in the limbs can also be abnormal in people with Klippel-Trenaunay syndrome. (
  • Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 people worldwide. (
  • Overall, we find that Bloom syndrome is associated with accelerated epigenetic aging effects in multiple tissues and more generally a strong effect on CpG methylation levels. (
  • Do children with Cat Eye Syndrome generally experience a even in a relatively focused area of questions about specific decline in physical abilities as they reach adulthood? (