Teratogenesis: The formation of CONGENITAL ABNORMALITIES.Abnormalities, MultipleElectronic Mail: Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.Adiponectin: A 30-kDa COMPLEMENT C1Q-related protein, the most abundant gene product secreted by FAT CELLS of the white ADIPOSE TISSUE. Adiponectin modulates several physiological processes, such as metabolism of GLUCOSE and FATTY ACIDS, and immune responses. Decreased plasma adiponectin levels are associated with INSULIN RESISTANCE; TYPE 2 DIABETES MELLITUS; OBESITY; and ATHEROSCLEROSIS.Energy Metabolism: The chemical reactions involved in the production and utilization of various forms of energy in cells.ReadingReceptors, Adiponectin: Cell surface receptors for ADIPONECTIN, an antidiabetic hormone secreted by ADIPOCYTES. Adiponectin receptors are membrane proteins with multiple cytoplasmic and extracellular regions. They are about 43 kDa and encoded by at least two genes with different affinities for globular and full-length adiponectin.Glucose: A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.Cytokines: Non-antibody proteins secreted by inflammatory leukocytes and some non-leukocytic cells, that act as intercellular mediators. They differ from classical hormones in that they are produced by a number of tissue or cell types rather than by specialized glands. They generally act locally in a paracrine or autocrine rather than endocrine manner.Blood Glucose: Glucose in blood.Endocrine System Diseases: Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.Hypogonadism: Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).Multiple Endocrine Neoplasia Type 1: A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the PARATHYROID GLANDS, the PITUITARY GLAND, and the PANCREATIC ISLETS. The resulting clinical signs include HYPERPARATHYROIDISM; HYPERCALCEMIA; HYPERPROLACTINEMIA; CUSHING DISEASE; GASTRINOMA; and ZOLLINGER-ELLISON SYNDROME. This disease is due to loss-of-function of the MEN1 gene, a tumor suppressor gene (GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13).Multiple Endocrine Neoplasia: A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively.Multiple Endocrine Neoplasia Type 2a: A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.Adenylate Cyclase: An enzyme of the lyase class that catalyzes the formation of CYCLIC AMP and pyrophosphate from ATP. EC 4.6.1.1.Multiple Endocrine Neoplasia Type 2b: Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease.Proto-Oncogene Proteins c-ret: Receptor protein-tyrosine kinases involved in the signaling of GLIAL CELL-LINE DERIVED NEUROTROPHIC FACTOR ligands. They contain an extracellular cadherin domain and form a receptor complexes with GDNF RECEPTORS. Mutations in ret protein are responsible for HIRSCHSPRUNG DISEASE and MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.Carcinoma, Medullary: A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992)Pheochromocytoma: A usually benign, well-encapsulated, lobular, vascular tumor of chromaffin tissue of the ADRENAL MEDULLA or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of EPINEPHRINE and NOREPINEPHRINE, is HYPERTENSION, which may be persistent or intermittent. During severe attacks, there may be HEADACHE; SWEATING, palpitation, apprehension, TREMOR; PALLOR or FLUSHING of the face, NAUSEA and VOMITING, pain in the CHEST and ABDOMEN, and paresthesias of the extremities. The incidence of malignancy is as low as 5% but the pathologic distinction between benign and malignant pheochromocytomas is not clear. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1298)POEMS Syndrome: A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)Thrombocytosis: Increased numbers of platelets in the peripheral blood. (Dorland, 27th ed)Vascular Endothelial Growth Factor A: The original member of the family of endothelial cell growth factors referred to as VASCULAR ENDOTHELIAL GROWTH FACTORS. Vascular endothelial growth factor-A was originally isolated from tumor cells and referred to as "tumor angiogenesis factor" and "vascular permeability factor". Although expressed at high levels in certain tumor-derived cells it is produced by a wide variety of cell types. In addition to stimulating vascular growth and vascular permeability it may play a role in stimulating VASODILATION via NITRIC OXIDE-dependent pathways. Alternative splicing of the mRNA for vascular endothelial growth factor A results in several isoforms of the protein being produced.Vascular Endothelial Growth Factors: A family of angiogenic proteins that are closely-related to VASCULAR ENDOTHELIAL GROWTH FACTOR A. They play an important role in the growth and differentiation of vascular as well as lymphatic endothelial cells.Endothelial Growth Factors: These growth factors are soluble mitogens secreted by a variety of organs. The factors are a mixture of two single chain polypeptides which have affinity to heparin. Their molecular weight are organ and species dependent. They have mitogenic and chemotactic effects and can stimulate endothelial cells to grow and synthesize DNA. The factors are related to both the basic and acidic FIBROBLAST GROWTH FACTORS but have different amino acid sequences.Vascular Endothelial Growth Factor Receptor-2: A 200-230-kDa tyrosine kinase receptor for vascular endothelial growth factors found primarily in endothelial and hematopoietic cells and their precursors. VEGFR-2 is important for vascular and hematopoietic development, and mediates almost all endothelial cell responses to VEGF.Giant Lymph Node Hyperplasia: Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and IMMUNOGLOBULIN A.Receptors, Vascular Endothelial Growth Factor: A family of closely related RECEPTOR PROTEIN-TYROSINE KINASES that bind vascular endothelial growth factors. They share a cluster of seven extracellular Ig-like domains which are important for ligand binding. They are highly expressed in vascular endothelial cells and are critical for the physiological and pathological growth, development and maintenance of blood and lymphatic vessels.Lymphokines: Soluble protein factors generated by activated lymphocytes that affect other cells, primarily those involved in cellular immunity.Polyneuropathies: Diseases of multiple peripheral nerves simultaneously. Polyneuropathies usually are characterized by symmetrical, bilateral distal motor and sensory impairment with a graded increase in severity distally. The pathological processes affecting peripheral nerves include degeneration of the axon, myelin or both. The various forms of polyneuropathy are categorized by the type of nerve affected (e.g., sensory, motor, or autonomic), by the distribution of nerve injury (e.g., distal vs. proximal), by nerve component primarily affected (e.g., demyelinating vs. axonal), by etiology, or by pattern of inheritance.Multiple Sclerosis: An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)Myelin Sheath: The lipid-rich sheath surrounding AXONS in both the CENTRAL NERVOUS SYSTEMS and PERIPHERAL NERVOUS SYSTEM. The myelin sheath is an electrical insulator and allows faster and more energetically efficient conduction of impulses. The sheath is formed by the cell membranes of glial cells (SCHWANN CELLS in the peripheral and OLIGODENDROGLIA in the central nervous system). Deterioration of the sheath in DEMYELINATING DISEASES is a serious clinical problem.Gait: Manner or style of walking.Lameness, Animal: A departure from the normal gait in animals.Gait Disorders, Neurologic: Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES.Multiple Sclerosis, Relapsing-Remitting: The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)Myelin Basic Protein: An abundant cytosolic protein that plays a critical role in the structure of multilamellar myelin. Myelin basic protein binds to the cytosolic sides of myelin cell membranes and causes a tight adhesion between opposing cell membranes.Myelin Proteins: MYELIN-specific proteins that play a structural or regulatory role in the genesis and maintenance of the lamellar MYELIN SHEATH structure.Multiple Sclerosis, Chronic Progressive: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)Torso: The central part of the body to which the neck and limbs are attached.Copyright: It is a form of protection provided by law. In the United States this protection is granted to authors of original works of authorship, including literary, dramatic, musical, artistic, and certain other intellectual works. This protection is available to both published and unpublished works. (from Circular of the United States Copyright Office, 6/30/2008)Gangrene: Death and putrefaction of tissue usually due to a loss of blood supply.Lymphoma, Non-Hodgkin: Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease.Lymphoma, B-Cell: A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes.Pancreatitis: INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.Lymphoma, Large B-Cell, Diffuse: Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.Gas Gangrene: A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus CLOSTRIDIUM. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases.Fingers: Four or five slender jointed digits in humans and primates, attached to each HAND.Antibodies, Monoclonal, Murine-Derived: Antibodies obtained from a single clone of cells grown in mice or rats.Equipment Reuse: Further or repeated use of equipment, instruments, devices, or materials. It includes additional use regardless of the original intent of the producer as to disposability or durability. It does not include the repeated use of fluids or solutions.

A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo. (1/3131)

Morphogenesis depends on the precise control of basic cellular processes such as cell proliferation and differentiation. Wnt5a may regulate these processes since it is expressed in a gradient at the caudal end of the growing embryo during gastrulation, and later in the distal-most aspect of several structures that extend from the body. A loss-of-function mutation of Wnt5a leads to an inability to extend the A-P axis due to a progressive reduction in the size of caudal structures. In the limbs, truncation of the proximal skeleton and absence of distal digits correlates with reduced proliferation of putative progenitor cells within the progress zone. However, expression of progress zone markers, and several genes implicated in distal outgrowth and patterning including Distalless, Hoxd and Fgf family members was not altered. Taken together with the outgrowth defects observed in the developing face, ears and genitals, our data indicates that Wnt5a regulates a pathway common to many structures whose development requires extension from the primary body axis. The reduced number of proliferating cells in both the progress zone and the primitive streak mesoderm suggests that one function of Wnt5a is to regulate the proliferation of progenitor cells.  (+info)

The homeobox gene Pitx2: mediator of asymmetric left-right signaling in vertebrate heart and gut looping. (2/3131)

Left-right asymmetry in vertebrates is controlled by activities emanating from the left lateral plate. How these signals get transmitted to the forming organs is not known. A candidate mediator in mouse, frog and zebrafish embryos is the homeobox gene Pitx2. It is asymmetrically expressed in the left lateral plate mesoderm, tubular heart and early gut tube. Localized Pitx2 expression continues when these organs undergo asymmetric looping morphogenesis. Ectopic expression of Xnr1 in the right lateral plate induces Pitx2 transcription in Xenopus. Misexpression of Pitx2 affects situs and morphology of organs. These experiments suggest a role for Pitx2 in promoting looping of the linear heart and gut.  (+info)

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis. (3/3131)

A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.  (+info)

Amelioration of TCDD-induced teratogenesis in aryl hydrocarbon receptor (AhR)-null mice. (4/3131)

The aryl hydrocarbon receptor (AhR) mediates many of the biological effects of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) and transcriptional activation of genes encoding a number of xenobiotic metabolizing enzymes. Prenatal exposure of mice to TCDD causes severe alterations in embryo and fetal development, including hydronephrosis and cleft palate. However, the mechanisms underlying these effects are unclear. In this work, the teratogenicity of TCDD in AhR-null mice was evaluated to determine if this effect is mediated by the AhR. Homozygous wild-type (+/+) or AhR-null (-/-) female mice were mated with males of the same genotype overnight. On gestation day (GD)-10, mice were intubated orally with either corn oil (vehicle control) or 25 micrograms/kg TCDD. Fetuses were examined on GD18 for visceral and skeletal alterations. For non-TCDD-exposed litters, all developmental endpoints were comparable between genotypes, with the exception of a lower incidence of large interfrontal bones in (-/-) mice. For TCDD-exposed litters, (+/+) fetuses had a significantly greater incidence of cleft palate, hydronephrosis, small kidneys, tortuous ureters and greater dilation of the renal pelves and ureters compared to (-/-) fetuses. Interestingly, an increased resorption rate was observed in (-/-) fetuses exposed to TCDD. Results from this work demonstrate that fetal development per se is generally unaffected by the absence of the AhR or that other genes may have compensated for the loss of the AhR. More importantly, these data indicate that the AhR mediates TCDD-induced teratogenicity. Further, since a higher percentage of resorptions was observed in (-/-) litters from TCDD-treated dams, it is possible that AhR-independent mechanisms contribute to TCDD-induced developmental toxicity.  (+info)

Townes-Brocks syndrome. (5/3131)

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.  (+info)

A new lethal syndrome of exomphalos, short limbs, and macrogonadism. (6/3131)

We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. X rays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. Pathological examination showed adrenal cytomegaly, hyperplasia of Leydig cells, ovarian stroma cells, and Langherans cells, and renal microcysts. We suggest that this condition is a new autosomal recessive MCA syndrome different from Beckwith-Wiedemann syndrome, especially as no infracytogenetic deletion or uniparental disomy of chromosome 11 was found.  (+info)

Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome. (7/3131)

The human gene HIC1 (hypermethylated in cancer) maps to chromosome 17p13.3 and is deleted in the contiguous gene disorder Miller-Dieker syndrome (MDS) [Makos-Wales et al. (1995) Nature Med., 1, 570-577; Chong et al. (1996) Genome Res., 6, 735-741]. We isolated the murine homologue Hic1, encoding a zinc-finger protein with a poxvirus and zinc-finger (POZ) domain and mapped it to mouse chromosome 11 in a region exhibiting conserved synteny to human chromosome 17. Comparison of genomic and cDNA sequences predicts two exons for the murine Hic1. The second exon exhibits 88% identity to the human HIC1 on DNA level. During embryonic development, Hic1 is expressed in mesenchymes of the sclerotomes, lateral body wall, limb and cranio-facial regions embedding the outgrowing peripheral nerves during their differentiation. During fetal development, Hic1 additionally is expressed in mesenchymes apposed to precartilaginous condensations, at many interfaces to budding epithelia of inner organs, and weakly in muscles. We observed activation of Hic1 expression in the embryonic anlagen of many tissues displaying anomalies in MDS patients. Besides lissencephaly, MDS patients exhibit facial dysmorphism and frequently additional birth defects, e.g. anomalies of the heart, kidney, gastrointestinal tract and the limbs (OMIM 247200). Thus, HIC1 activity may correlate with the defective development of the nose, jaws, extremities, gastrointestinal tract and kidney in MDS patients.  (+info)

Comparison of prenatal ultrasound and postmortem findings in fetuses and infants with congenital heart defects. (8/3131)

OBJECTIVE: Detection of congenital heart defects by prenatal ultrasound examination has been one of the great challenges since the investigation for fetal anomalies became part of the routine fetal examination. This prospective study was designed to evaluate the concordance of prenatal ultrasound findings with autopsy examination in a population consisting of both referred women and non-selected pregnant women. DESIGN: Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine and an autopsy performed during the years 1985-94. Results from the ultrasound and autopsy examinations were systematized into categories depending on the degree of concordance. RESULTS: Of 408 infants and fetuses with developmental anomalies, 106 (26%) had congenital heart defects. In 63 (59%) of these 106 cases, the heart defect was the principal reason for the termination of pregnancy or the cause of death. Excluding five cases with a secundum atrial septal defect, there was complete agreement between the ultrasound examination and the autopsy findings in 74 (73%) of 101 cases. In 18 cases, there were minor discrepancies between ultrasound and autopsy findings. The main diagnosis was thus correct in 92 cases (91%). From the first time period (1985-89) to the second (1990-94), the detection rate of all heart defects increased from 48% to 82%. CONCLUSION: This study confirms a good correlation between ultrasound and autopsy diagnoses in fetuses and infants with congenital heart defects. A significant improvement in the detection of heart defects occurred from the first time period to the second and was probably due to increased experience and technical advances.  (+info)

*Multiple abnormalities

When a patient has multiple abnormalities (multiple anomaly, multiple deformity), they have a congenital abnormality that can ... Most medical conditions can have systemic sequelae, but multiple abnormalities occur when the effects on multiple systems is ...

*Perlman syndrome

Beckwith-Wiedemann syndrome Multiple abnormalities Renal cell carcinoma "Perlman syndrome". Orphanet. May 2008. Retrieved 2010- ... No chromosomal abnormalities have been observed, except for in the case of Chernos et al., which showed a de novo mutation - an ... Chernos JE, Fowler SB, Cox DM (September 1990). "A case of Perlman syndrome associated with a cytogenetic abnormality of ... During the first trimester, the common abnormalities of the syndrome observed by ultrasound include cystic hygroma and a ...

*Intercurrent disease in pregnancy

Multiple sclerosis does not increase the risk of congenital abnormality or miscarriage. The following conditions may also ... "Congenital Abnormalities and Multiple Sclerosis". BMC Neurology. 10: 115. doi:10.1186/1471-2377-10-115. PMC 3020672 . PMID ... Asthma Seizure disorders Structural abnormalities in the cervix Structural abnormalities in the uterus Viral hepatitis Spencer ... Multiple Sclerosis: Pregnancy Q&A from Cleveland Clinic, retrieved January 2014. Ramagopalan, S. V.; Guimond, C.; Criscuoli, M ...

*Trisomy 16

Seller, MJ; Fear, C; Kumar, A; Mohammed, S (2004). "Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities". ... CS1 maint: Multiple names: authors list (link) Yong, PJ; Barrett, IJ; Kalousek, DK; Robinson, WP (2003). "Clinical aspects, ... Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. It is the most common ... However, trisomy 16 does not always result in anatomical abnormalities. Mary Kugler, R.N. (2005-08-20). "Chromosome 16 ...

*Kettleman Hills Hazardous Waste Facility

It was found that some children had multiple abnormalities, while others had single defects. All the birth defects represented ... The community of Kettleman City has suspected negative health effects caused by the Waste Facility multiple times. In 2007, the ...

*Miller-Dieker syndrome

Multiple abnormalities of the brain, kidneys, and gastrointestinal tract (the stomach and intestines) may occur. MDS is a ... MDS is a contiguous gene syndrome - a disorder due to the deletion of multiple gene loci adjacent to one another. The disorder ...

*Marshall-Smith syndrome

Online Mendelian Inheritance in Man (OMIM) Marshall-Smith syndrome -602535 Cases Reported On Abnormalities, Multiple. MEDICAL ... examination Accelerated osseous maturation Phalangeal abnormalities Tubular thinning of the long bones Skull abnormalities ... An osteochondrodysplasia with connective tissue abnormalities. 23rd Annual David W. Smith Workshop on Malformations and ... Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. American Journal of Medical ...

*Acute liver failure

Multiple electrolyte abnormalities are common in ALF. Correction of hypokalemia is essential as hypokalemia increases the ...

*Chronic progressive external ophthalmoplegia

Multiple mtDNA abnormalities exist which cause CPEO. One mutation is located in a conserved region of mitochondrial tRNA at ... The mtDNA that is affected maybe a single or multiple point deletion, with associated nuclear DNA deletions. One study showed ... if there is pigmentary retinopathy that may signify Kearns-Sayre syndrome which is associated with cardiac abnormalities. MRI ...

*Antley-Bixler syndrome

... midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures". Birth Defects Orig. Artic. ...

*Thomas Bartholin

Bartholin-Patau syndrome, first described by Thomas Bartholin, is a congenital syndrome of multiple abnormalities produced by ...

*Sattler's layer

Howard, Harvey (1917-01-01). "A Case Showing Multiple Congenital Abnormalities of the Eye; the Origin of the Vitreous Indicated ...

*CLDN16

2007). "Paracellin-1 gene mutation with multiple congenital abnormalities". Pediatr. Nephrol. 21 (11): 1776-8. doi:10.1007/ ... Twenty five tests were carried out on homozygous mutant animals and one significant abnormality was observed: the mice ...

*Chronic cerebrospinal venous insufficiency

Qiu J (May 2010). "Venous abnormalities and multiple sclerosis: another breakthrough claim?". Lancet Neurol. 9 (5): 464-5. doi: ... "Evidence against the involvement of chronic cerebrospinal venous abnormalities in multiple sclerosis. A case control study". ... Multiple sclerosis has been proposed as a possible outcome of CCSVI. Zamboni and colleagues claimed that in MS patients ... In 2009, the Multiple Sclerosis Society of Canada committed to funding research on the connection between CCSVI and MS, ...

*Potocki-Lupski syndrome

Both syndromes are characterized by multiple congenital abnormalities and mental retardation. A key feature which appears in 80 ...

*Hyaluronan-mediated motility receptor

"Receptor for hyaluronan-mediated motility correlates with centrosome abnormalities in multiple myeloma and maintains mitotic ... characterizes the malignant clone in multiple myeloma: identification of three distinct RHAMM variants" (PDF). Blood. 93 (5): ...

*Munis Dundar

Dundar, M; Ozdemir, SY; Fryns, JP (2011). "A new syndrome: multiple congenital abnormalities and mental retardation in two ... "Multiple Congenital Abnormalities and Mental Retardation Syndrome". He has taken part as project coordinator and assistant ... Scoliosis and Arachnodactyly Syndrome 2008 Multiple Congenital Abnormalities and Mental Retardation 2012 All syndromes are in ... In 2001 family with a distal limb and sternal abnormalities were reported by Dundar et al.This autosomal dominant disease signs ...

*Somatic evolution in cancer

November 1999). "Multiple clonal abnormalities in the bronchial epithelium of patients with lung cancer". J. Natl. Cancer Inst ... For the formation of solid tumors, there is an involvement of multiple cycles of clonal and non-clonal expansion. Even at the ... When a cancer cell divides, both daughter cells inherit the genetic and epigenetic abnormalities of the parent cell, and may ... There are multiple levels of genetic heterogeneity associated with cancer, including single nucleotide polymorphism (SNP), ...

*TPPP

This protein has been linked to multiple sclerosis myelin lesions and CSF abnormalities in multiple sclerosis patients. This ... 2007). "p25alpha relocalizes in oligodendroglia from myelin to cytoplasmic inclusions in multiple system atrophy". Am. J. ... reduced in demyelinated lesions is enriched in cerebrospinal fluid of multiple sclerosis". Biochem. Biophys. Res. Commun. 409 ( ...

*TPX2

2005). "Receptor for hyaluronan-mediated motility correlates with centrosome abnormalities in multiple myeloma and maintains ...

*Hypospadias

... hypospadias may be part of a syndrome with multiple abnormalities. The most common associated defect is an undescended testicle ... It is the second-most common birth abnormality of the male reproductive system, affecting about one of every 250 males at birth ... Surgery extends the urinary channel to the end of the penis, straightens bending, and corrects the foreskin abnormality by ... Surgical repair of severe hypospadias may require multiple procedures and mucosal grafting. Preputial skin is often used for ...

*Primidone

Nelson, Marjorie M.; C. Willet Asling; Herbert M. Evans (1 September 1952). "Production of multiple congenital abnormalities in ... What was new was the idea that drugs could cause this in well-nourished people with no intestinal abnormalities. In many cases ... Meadow encountered six babies with cleft lip and palate in addition to other congenital abnormalities whose mothers had been ... Meadow, S. R. (January 1970). "Congenital abnormalities and anticonvulsant drugs". Proceedings of the Royal Society of Medicine ...

*Pregnancy

Obstetric ultrasonography can detect fetal abnormalities, detect multiple pregnancies, and improve gestational dating at 24 ... Twins and other multiple births are counted as one pregnancy and birth. A woman who has never been pregnant is referred to as a ... A multiple pregnancy involves more than one offspring, such as with twins. Pregnancy can occur by sexual intercourse or ... In the case of a multiple birth the gravida number and parity value are increased by one only. Women who have never carried a ...

*Renata Laxova

She is the discoverer of the Neu-Laxová syndrome, a rare congenital abnormality involving multiple organs, with autosomal ... Neu RL, Kajii T, Gardner LI, et al.: A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. ...

*Immunoglobulin heavy constant alpha 1

IGHA1 has been implicated in a chromosomal abnormality identified in multiple myeloma lines. The abnormality has been ...

*Cervical cancer

It is common to have multiple strains at the same time, including those that can cause cervical cancer along with those that ... was developed to place emphasis on the spectrum of abnormality in these lesions, and to help standardise treatment. It ...
Interstitial deletions of the distal part of chromosome 2p are rare, with only six reported cases involving regions from 2p23 to 2pter. Most of these were cytogenetic investigations. We describe a 14-year-old boy with an 8.97 Mb deletion of 2p23.3-24.3 detected by array comparative genomic hybridization (array CGH) who had intellectual disability (ID), unusual facial features, cryptorchidism, skeletal myopathy, dilated cardiomyopathy (DCM), and postnatal overgrowth (macrocephaly and tall stature). We compared the clinical features of the present case to previously described patients with an interstitial deletion within this chromosomal region and conclude that our patient exhibits a markedly different phenotype. Additional patients are needed to further delineate phenotype-genotype correlations © 2012 Wiley Periodicals, Inc. ...
An infant with an interstitial deletion 46,XY, del(9)(pter leads to q22::q32 leads to qter) is described. Clinical features included abnormal craniofacies with hypotelorism, narrow palpebral fissures, sclerocornea, deep vertical groove, and supraorbital ridge hypoplasia. There was unilateral preaxial polydactyly and toe syndactyly. Generalised hirsutism was noted. The infant had surgery for duodenal atresia but died at the age of 3 months. Unilateral renal dysplasia and accessory spleens were found at necropsy.. ...
Background Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct...
OBJECTIVE: To study the outcome of pregnancies with a prenatally diagnosed central nervous system (CNS) malformation. METHODS: Leiden University Medical Centre is a tertiary referral center for fetal ultrasound and invasive prenatal diagnosis. Matern
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the...
Results and conclusions: 45 patients all with proven centromeric instability were included in this study. Facial dysmorphism was found to be a common characteristic (n = 41/42), especially epicanthic folds, hypertelorism, flat nasal bridge and low set ears. Hypo- or agammaglobulinaemia was demonstrated in nearly all patients (n = 39/44). Opportunistic infections were seen in several patients, pointing to a T cell dysfunction. Haematological malignancy was documented in two patients. Life expectancy of ICF patients is poor, especially those with severe infections in infancy or chronic gastrointestinal problems and failure to thrive. Early diagnosis of ICF is important since early introduction of immunoglobulin supplementation can improve the course of the disease. Allogeneic stem cell transplantation should be considered as a therapeutic option in patients with severe infections or failure to thrive. Only 19 of 34 patients showed mutations in DNMT3B, suggesting genetic heterogeneity. No ...
List of causes of Cysts and Jaw symptoms and Long philtrum, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
Analysis of results of treatment without-of-spine-based implants in patients with multiple congenital anomalies of the spine and thorax
Larsen Syndrome shows as multiple congenital dislocations and characteristic facies (prominent forehead, depressed nasal bridge, wide-spaced eyes); also clubfoot, bilateral dislocation of elbows, hips and knees (most characteristically, anterior dislocation of the tibia on the femur), and short metacarpals with cylindrical fingers lacking the usual tapering. Cleft palate, hydrocephalus, and abnormalities of spinal segmentation are found in some.
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As with the ability to hear, the ability to see may vary in degree of impairment from minor anomalies of sight which impose, especially with the use of corrective lens, little or no inconvenience, to...
I'm a 15 year old girl. i'm 5'3 and about 150 pounds but am fairly active and pretty muscular. i haven't been home so i - Answered by a verified Pediatrician
Definition: ACC is the failure of formation or decussation of the corticocortical fibers. ACC may be an isolated feature or associated with other malformations.. ...
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Im an OT and mother of twin 2 year old girls who have demonstrated developmental delays. They are getting early intervention, pretty much everything offered!
No idea where to start but came of depo in April, no period yet but not preg. Not good with all abriviations, so forgive me but we want to start trying for number 3, we have a 4 year old girl a almost 2 year old, CHD heart warrior, my lil hero. Any advice appriciated. With Avril we concived by accident. 3 months down line, with Zander took over a year TTC ...
hey, im a 15 year old girl and since yesterday evening ive been having these symptoms. i have to pee frequently and whenever i do only a few drops come out, or a small portion at best. theres blood in my urine and i feel a mild pain and discomfort whenever i pee. please tell me what this is if you know. also i had sex the same day. not the first time but longer than before. could that be to blame??. Reply Follow This Thread Stop Following This Thread Flag this Discussion ...
skeletal abnormalities.. DISCUSSION. Fryns syndrome is an autosomal recessive, rare multiple congenital anomaly syndrome with an incidence of 0.7 per 10000 births. The six diagnostic criteria for Fryns Syndrome are as follows: 1) diaphragmatic defect, 2) characteristic facial appearance, 3) distal digital hypoplasia, 4) pulmonary hypoplasia, 5) characteristic associated anomalies like polyhydramnios, brain malformations, renal dysplasia, gastrointestinal system malformations and genital malformations and 6) Parental consanguinity (Lin et al., 2005). At least three findings should be present for Fryns syndrome but in the present case all six criteria were present.. Fryns syndrome may be the most common autosomal recessive syndrome in which congenital diaphragmatic hernia is a cardinal feature (Aymé et al., 1989; Slavotinek et al., 2005). Vargas et al. (2000) reported a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect. Both twins had macrocephaly, ...
... are rare abdominal wall defects. Body stalk anomaly is generally considered to be lethal; early, accurate prenatal diagnosis allows parents the option of pregnancy termination. Early, accurate prenatal diagnos
The phenotype of the 16q deletion syndrome was attributed to the deletion of critical bands at 16q11.2-q13,9 12 2516q21,11 16 19 21 24 and 16q22.1.14Specific features, such as congenital cataract20 and iris coloboma,28 result from more distal deletions of 16q22.3 and 16q23.1-24.2. Some of the features documented in patients with proximal deletions of chromosome 16q are also seen in Townes-Brocks syndrome.31 35 36 The clinical presentation of TBS is highly variable37 within and between affected families. Characteristic features of TBS are anorectal abnormalities (imperforate anus, ectopic anus), abnormalities of the hands (preaxial polydactyly, triphalangeal thumbs, hypoplastic thumbs), abnormalities of the feet (syndactyly, club foot), deformities of the outer ear ("lop ears") and preauricular tags, and deafness.38 Renal malformations include agenesis as well as hypoplastic or polycystic kidneys and may lead to renal failure.39 The frequency of cardiac defects in TBS is high in those patients ...
SUMMARY Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not recapitulate the classical WHS defects, and the genes contributing to WHS have not been conclusively established. Recently, the human FGFRL1 gene, encoding a putative fibroblast growth factor (FGF) decoy receptor, has been implicated in the craniofacial phenotype of a WHS patient. Here, we report that targeted deletion of the mouse Fgfrl1 gene recapitulates a broad array of WHS phenotypes, including abnormal craniofacial development, axial and appendicular skeletal anomalies, and congenital heart defects. ...
Polysplenia syndrome is a rare congenital subtype of heterotaxy syndrome associated with various visceral and vasculer anomalies. Polysplenia syndrome is characterized by presence of two or more spleens and anomalies of other asymetric organs. It is reported incidence of 1 per 250.000 and more common in females. Here, we report the case of a 53-year-old woman who presented with polysplenia syndrome.
Rationale: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. reports of similar aberrations and discuss possible functional effects of genes included in the deleted and/or duplicated regions. Partial trisomy 1q/monosomy 21q has only been reported once before, and this is the first Rabbit Polyclonal to DNA Polymerase lambda report of partial monosomy 1q/trisomy 21q. The expressed phenotype of mirroring chromosomal aberrations in our patients supports the previous suggestion that this dosage effect of some of the genes included in deleted/duplicated regions may result in opposite phenotypes of the patients. Patient (Fig. ?(Fig.1III.4.1III.4. A and III.4. B), currently a 10-year-old, is a first female child of young, nonconsanguineous parents with complicated family history (Fig. ?(Fig.1).1). Her birth weight was 3550?g (50th centile), birth length 53?cm (50th centile), occipitofrontal circumference (OFC) 37?cm (97th centile), and Apgar ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Sacral hemangiomas multiple congenital abnormalities
An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility ...
13:Verloes et al. (1992)} described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet ...
I have previously posted on clinodactyly but recently performed several surgeries so I though adding a few more pictures and thoughts might be helpful. There are two types of clinodactyly: isolated and associated with a syndrome. Isolated clinodactyly is common in the general population but is very well tolerated and usually ignored. In fact, many people are not even aware that they have a clinodactyly, especially if it is mild. It is most common in the small finger but can be seen in any digit. When the pinky is involved, it can cause an appearance problem or it can be a functional problem. It tends to be most noted in adolescence. Functional difficulties are most commonly seen in those patients that play a musical instrument. Here is a single example of an isolated case of small finger syndactyly in a flute player with functional limitations. The family and patient are happy ...
Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations. The proband was born pre-term to a 34-year-old mother with a history of two first trimester miscarriages and an early infant death. She was referred at the age of 8 months for genetic evaluation due to prenatal and postnatal growth retardation, developmental delay and multiple congenital anomalies. On clinical evaluation, she had craniofacial dysmorphic features such as scaphocephaly, large
Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo−/hyper- pigmented streaks on the skin. Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series,
La disostosis acrofrontofacionasal es una enfermedad extremadamente rara, caracterizada por retraso mental, baja estatura, hipertelorismo, punta nasal ancha con muescas, labio leporino (paladar hendido), camptobraquipolisindactilia postaxial, hipoplasia del peroné, y anomalías de la morfología del pie.[1]​[2]​[3]​[4]​ Disostosis Disostosis mandibulofacial Richieri-Costa A, Colletto GM, Gollop TR, Masiero D (abril de 1985). «A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome». Am. J. Med. Genet. (en inglés) 20 (4): 631-8. PMID 2986457. doi:10.1002/ajmg.1320200409. Guion-Almeida, M. L., Richieri-Costa, A. Acrofrontofacionasal dysostosis: report of the third Brazilian family. (Letter) Am. J. Med. Genet. 119A: 238-241, 2003. (En inglés) PubMed Richieri-Costa, A., Colletto, G. M. D. D., ...
Bethesda, Md., Sun., Aug. 15, 2010 - Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.. Kabuki syndrome, which has an estimated incidence of 1 in 32,000 births, was originally described by Japanese scientists in 1981. Patients with the disorder often have distinct facial features that resemble the make-up worn by actors of Kabuki, a Japanese theatrical form.. The work, published in todays advanced online edition of Nature Genetics, was carried out by scientists at the University of Washington in Seattle as part of a larger effort to use second generation DNA sequencing technologies in new ways to identify genes for rare disorders. The project is funded ...
From NCBI Gene:. This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]. From UniProt: ...
kabuki syndrome - I am from south Africa and i have a son with kabuki syndrome. I want to know if there is other moms with kids with this...
Just had my 20 week scan today (19+6), which showed several suspected abnormalities. First they identified a 2 vessel cord vs 3. Apparently this isn
Advances in Orthopedics is a peer-reviewed, Open Access journal that publishes original research articles, review articles, and clinical studies in all areas of orthopedics.
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Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a happy face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues (summary by {3:Le Goff et al., 2011 ...
Hydranencephaly is a rare central nervous system malformation that results in the near absence of the cerebral hemispheres, the thinking portion of the brain. They are replaced by sacs filled with cerebrospinal fluid.
A case is described in which it was found at autopsy that the umbilical cord of a macerated stillborn infant had four patent vessels (two arteries and two veins) throughout its length. This was due to a rare persistence of the caudal portion of the right umbilical vein. The infant had multiple congenital anomalies including complete thoracic ectopia cordis, a symmetrical bifid liver, severe bilateral cleft lip and palate with absent soft palate and uvula , and cecum mobile. The autopsy findings are detailed and the relevant literature and embryology briefly discussed.
The SET domain containing 5 gene (SETD5) encodes the SET domain-containing protein 5 and has been reported to be associated with intellectual disability (ID), language delay, and dysmorphic features. Previously reported individuals with SETD5 alterations have been described with psychiatric/behavioral anomalies such as autism (ASD) and stererotypic behaviors, gastrointestinal abnormalities. Craniofacial abnormalities such as low posterior hairline, nasal abnormalities, upslanting/ downslanting palpebral fissures, long and smooth philtrum, thin upper lip, and ear abnormalities have also been described.. ...
Clinically Turner syndrome accounts for 1/3rd cases of primary amenorrhoea. Patients may present with short stature, lymphoedema of the hands and feet, shield chest with widely spaced nipples, low hairline, low-set ears, infertility, obesity, small finger nails, prominent epicanthal folds, micrognathia, high arched palate, pigmented moles, visual impairments (glaucoma), hearing loss, high waist-to-hip ratio and nonverbal learning disability. Turner syndrome manifests itself differently in each woman, therefore, no two individuals will share the same features [1 ...
Objective This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients.
Facial abnormalities: small eye openings; skin webbing between eyes and base of nose; drooping eyelids; nearsightedness; failure of eyes to move in same direction; short upturned nose; sunken nasal bridge; flat or absent groove between nose and upper lip; thin upper lip; opening in roof of mouth; small jaw; low-set or poorly formed ears. ...
A baby girl was delivered by caesarean section at 39 weeks after unsuccessful attempts at vacuum extraction vaginal delivery. Her Apgar scores were 3 and 9 at one and five minutes, respectively. Resuscitation measures included bag mask manual ventilation for bradypnoea, bradycardia, cyanosis, and generalised hypotonia. She recovered promptly and was clinically stable.. The mother was a primigravida and the pregnancy was uneventful. The parents were non-consanguineous and declared no medical family history of note. Maternal serology tests were negative, as was Streptococcus group B screening. The antenatal ultrasound scans were normal.. Examination of the newborn showed persistent generalised hypotonia, the presence of an expressionless face, bitemporal flattening, tent shaped upper lips, a carp mouth with a high arched palate, an abnormal receding small jaw, and mild respiratory distress (fig 1⇓). Hyporeflexia was also present. Weight, length, and head circumference measures were appropriate ...
Born at term after uneventful pregnancy; birth weight 2500g, length 49cm; at 6y mental retardation; height and weight normal; HC 44cm (,3rd centile); additionally temporal narrowing, downward slanting palpebral fissures, long eyelashes, high palate, pointed chin, low set, dysplastic ears, hip dysplasia, tapering fingers with clinodactyly of fingers 2, 4, 5. ...
NIH Rare Diseases : 50 chromosome 11q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 11. the severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. features that often occur in people with chromosome 11q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. chromosome testing of both parents can provide more information on whether or not the deletion was inherited. in most cases, parents do not have any chromosomal anomaly. however, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. the balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like ...
Free, official coding info for 2018 ICD-10-CM O43.191 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
p>An evidence describes the source of an annotation, e.g. an experiment that has been published in the scientific literature, an orthologous protein, a record from another database, etc.,/p> ,p>,a href="/manual/evidences">More…,/a>,/p> ...
As of March 2016, 6.36 Mb of sequence (83 genes, 1557 exons) generated in our lab was compared between Sanger and NextGen methodologies. We detected no differences between the two methods. The comparison involved 6400 total sequence variants (differences from the reference sequences). Of these, 6144 were nucleotide substitutions and 256 were insertions or deletions. About 65% of the variants were heterozygous and 35% homozygous. The insertions and deletions ranged in length from 1 to over 100 nucleotides.. In silico validation of insertions and deletions in 20 replicates of 5 genes was also performed. The validation included insertions and deletions of lengths between 1 and 100 nucleotides. Insertions tested in silico: 2200 between 1 and 5 nucleotides, 625 between 6 and 10 nucleotides, 29 between 11 and 20 nucleotides, 25 between 21 and 49 nucleotides, and 23 at or greater than 50 nucleotides, with the largest at 98 nucleotides. All insertions were detected. Deletions tested in silico: 1813 ...
Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Publikační činnost Eva Hladilkova12†, Tuva Barøy1†, Madeleine Fannemel1, Vladimira Vallova23, Doriana Misceo1, Vesna Bryn4, Iva Slamova35, Sarka Prasilova2, Petr Kuglik23* andEirik Frengen1*: A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms, 31. 6. 2015
OBJECTIVE: The aim of this study is to compare two-dimensional and three-dimensional ultrasound for the visualization and diagnosis of craniofacial dysmorphism. METHODS: In this prospective study, we performed three-dimensional (3D) ultrasound following good-quality two-dimensional (2D) ultrasound in an at-risk population. Findings from 2D and 3D examination were noted. RESULTS: Our ...
The starries have no problem looking directly at the sun and eclipses. Under a microscope, their eyes can be seen changing from red to blue. Their intense gaze caused seizures in epileptics, but no other dangers were reported ...
Sometimes I wonder, if there werent any people like this and no cops doing the same thing, would there actually be 13 year old girls looking for sex with old men on line? I mean, arent the girls who post this stuff a) cops b) freaks or c) vigilantes and-or freaks? It just doesnt strike me as something a lot of 13 year old girls are interested in doing. Of course, it might explain my lousy luck when I was a 13 year old boy. They were all hooking up with old guys. Except we didnt have the Internet then. And we liked it! Or we didnt know what we were missing. Though now that I think about it, there were some guys like this hanging around the school: ...
My 3 year old daughter has been potty trained for about a year. We have never had any problems with her going to the bathroom and wiping her. All of a sudden, recently, every time she gets off the po...
No. 02 in the order given on the series contents page. The complete series, plus contents page: RES.53.1 to RES.53.19. (The series also included a title page, which is not in the MFA collection; see Waseda db 201-0123.) The date and publication information for each print was in the left margin, which has been cut off of these impressions.
Definition: Relative microcephaly is an abnormally small. head, between one and three standard deviations. below the norm, (a drop of more. than 2SD, under the term of suboptimal head growth). ...
Im a 15 year old girl, and I like guys. But guys my age rarely have too much experience with actual girls sexually. About a month ago I started talking to this guy, and we texted all the time and we were flirty but nothing super serious. (Hes 16). I really liked him as a person and everything, and we have a lot in common, but he wanted to talk about sex a lot and he had a lot of questions?... ...
Hi there all well heres my story.im 43 and have had a successfull career as an actor.some years ago my partner passed away and I decided to have a child on my own with a friend as donor.i now have a wonderfull 5 year old girl who I
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Spartan automatically processes files comprising lists of molecules, in general operations applicable to a single molecule may be appplied to lists of molecules. Spartan is optimized to operate on lists of a hundreds of molecules (not thousands or tens of thousands ...
Earlier this evening, a guest contacted me regarding a comment I made recently about the Wakefield studys fraudulent nature. She said she seriously [doubts] many parents based their decision on a study by Wakefield that covered 12 children. Thats probably a true statement - Id bet every cent in my bank account that the majority…
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Doepfer A-171-2 Voltage Controled Slew Limiter Module A-171-2 is a voltage controlled slew limiter with a lot of additional features beyond a simple
Effect of Qter® treatment on ATP, protein content and cell growth in H9c2 cells.H9c2 cells were treated up to 72 hours with 100 nM Qter® and the ATP content w
Abstract The congenital anomaly of extreme microglossia is uncommon and fewer than 50 cases have been described. The microglossia has often occurred in association with limb abnorm..
Hi everyone so glad to be here! Ive taken a test this morning and wasnt expecting to see a bfp! I have a 13 month old boy who Im still bf so this is a bit of a surprise! I think Im about 6 weeks ❤ Congratulations everyone x
Meckel syndrome (also known as Meckel-Gruber Syndrome, Gruber Syndrome, Dysencephalia Splanchnocystica) is a rare, lethal, ciliopathic, genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. Meckel-Gruber syndrome is named for Johann Meckel and Georg Gruber. Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation. Recently, two MKS genes, MKS1 and MKS3, have been identified. A study done recently has described the cellular, sub-cellular and functional characterization of the novel proteins, MKS1 and meckelin, encoded by these genes. The malfunction of this protein production is mainly responsible for this lethal disorder. Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the ...
Kabuki syndrome (also previously known as kabuki makeup syndrome, KMS or Niikawa-Kuroki Syndrome), is a pediatric congenital disorder of suspected genetic origin with multiple congenital anomalies and intellectual disabilities. It is quite rare, affecting roughly one in 32,000 births. It was identified and described in 1981 by two Japanese groups, led by the scientists Norio Niikawa and Yoshikazu Kuroki. It is named kabuki syndrome because of the facial resemblance of affected individuals to stage makeup used in kabuki, a Japanese traditional theatrical form. There is a wide range of congenital problems associated with kabuki syndrome with large differences between affected individuals. Some of the common problems are heart defects, urinary tract anomalies, hearing loss, hypotonia, recurrent ear infections and postnatal growth deficiency. Other characteristics include skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. In terms of development, mild to moderate ...
Looking for online definition of clinodactyly in the Medical Dictionary? clinodactyly explanation free. What is clinodactyly? Meaning of clinodactyly medical term. What does clinodactyly mean?
Orofaciodigital syndrome I (OFD1; MIM 311200) is an X-linked dominant disease with lethality in males. It is characterized by facial, oral cavity and digit malformations. Typical facial and oral cavity findings include hypertelorism, broad nasal bridge, hypoplastic malar cartilage, small median cleft or pseudocleft of the upper lip, hyperplastic oral frenuli, cleft palate, bifid or lobulated tongue, lingual hamartomas, and hypodontia. Hand malformations consist of brachydactyly, syndactyly, clinodactyly, and occasionally polydactyly. Approximately 50% of the patients have polycystic kidneys. Fibrocystic disease of the liver and pancreas can be present. Central nervous system malformations are variable and found in about 40% of the patients. OFD1 is caused by mutations in the OFD1 gene, which codes for oral-facial-digital syndrome 1 protein. Mutations in this gene can also cause Simpson-Golabi-Behmel syndrome, type 2 (SGBS2; MIM 300209) and Joubert syndrome 10 (JBTS10; MIM 300804).. Read less ...
video clip.. With an estimated human population prevalence of 1:2000, Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans and almost all children with the syndrome have speech and language impairments that are generally recognized to be complex and difficult to treat.. To demonstrate and to provide clinicians with expert guidance, the authors have produced a comprehensive two-volume set with a combination of text and video demonstrating the clinical features of Velo-Cardio-Facial Syndrome (VCFS); the communication phenotype in VCFS; the natural history of speech and language in VCFS; diagnostic procedures necessary for assessing speech and language disorders in VCFS; the treatment of speech and language impairment in VCFS; and outcomes, demonstrated by video on an accompanying DVD to Volume II.. This volume commences with a survey of the history of VCFS and provides an exhaustive description of the 190 phenotypes associated with the syndrome, ...
BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations in the DNA methyltransferase gene DNMT3B in some, but not all, ICF patients. OBJECTIVE: To obtain a comprehensive description of the clinical features of this syndrome as well as genotype-phenotype correlations in ICF patients. METHODS: Data on ICF patients were obtained by literature search and additional information by means of questionnaires to corresponding authors. Results and CONCLUSIONS: 45 patients all with proven centromeric instability were included in this study. Facial dysmorphism was found to be a common characteristic (n = 41/42), especially epicanthic folds, hypertelorism, flat nasal ...
Background. Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked recessive overgrowth syndrome manifesting primarily in boys and characterised by macrosomia, distinctive facial features and multiple congenital abnormalities. Although this rare condition is thought to be under-diagnosed, making a diagnosis is important as affected boys have a 7.5% risk of developing visceral tumours and surveillance is warranted. Mutations in GPC3 are found in up to 70% of boys affected with SGBS. Objectives. A clinical and molecular investigation of two boys with SGBS, probands B and S, and their mothers. Documentation of the clinical phenotype could assist with diagnosis in affected boys and will lead to early initiation of tumour surveillance. Methods. Hospital folders were reviewed and clinical consultations arranged for both probands and their mothers. Molecular investigations initially searched for whole-exon deletions in GPC3 followed by gene sequencing. Results. The clinical phenotype of both probands was
Following reconstruction of the oesophagus a trans-anastomotic (TAT) tube is placed. This must not be dislodged in the post-operative period as replacement of it can cause damage to the repaired oesophagus.. Timing of extubation needs to be carefully considered as attempts at reintubation can cause disruption of the ligated tracheo-oesophageal fistula.. Feed post-operatively and the timing of a contrast study will be recommended by the paediatric surgical team.. Completion of work-up for any associated anomalies needs to be completed once the neonate has recovered from surgery (ECHO, renal ultrasound, spinal ultrasound).. The nursing goals in long-gap oesophageal atresia are: prevention of aspiration and nursing of the upper pouch as pre-operatively, provision of optimal nutrition including care of the gastrostomy, facilitate normal growth and development and encourage the parents to be involved in the daily care of the infant.. ...
We report on a 4-year-old girl who presented with microcephaly, multiple minor anomalies of face and limbs, congenital heart defect, hypotonia, neuropsychomotor delay, deafness and seizures. A GTG-banded karyotype identified an additional fragment of unknown origin on the terminal region of 4p. Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole-genome array comparative genomic hybridization (array-CGH) identified a duplication of the region 4p13 4p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13 p16.3::p16.3 qter). The clinical features of our patient differed from those typically observed in Wolf-Hirschhorn syndrome and were more compatible with duplication 4(p14 p16.3), with ...
Find people with Coffin-Lowry syndrome through the map. Connect with them and share experiences. Join the Coffin-Lowry syndrome community.
NIH Rare Diseases : 50 townes-brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and thumb malformations. most affected individuals have at least two of these three main features. other signs and symptoms may include kidney abnormalities, hearing loss, heart defects, genital malformations and intellectual disability. the condition is caused by mutations in the sall1 gene which provides instructions for making proteins that are involved in the formation of tissues and organs before birth. in rare cases, the syndrome may be caused by a mutation in the sall4 gene. inheritance is autosomal dominant. imperforate anus is corrected with surgery as soon as possible, after the baby is born. the hearing loss should be treated early; the thumb malformation is also treated with surgery when needed. last updated: 10/24/2016 ...
We present a case of a female patient with monosomy of X chromosome in peripheral lymphocytes and skin fibroblasts, normal ovarian function and associated multiple congenital abnormalities of the aorta: bicuspid aortic valve, dilatation of the ascending aorta and multiple cystic structures of the aortic wall, complicated by endarteritis. We review the literature on fertile women with 45,X karyotype and the possible pathogenetic mechanisms of the aortic defects described as cystic medial necrosis of the aorta.. ...
Mutations in the human T-box transcription factor gene TBX3 underlie the autosomal dominant disorder known as ulnar-mammary syndrome (UMS; OMIM 181450) (Bamshad et al., 1997). Human TBX3 was identified during an attempt to positionally clone the gene responsible for another developmental disorder, Holt-Oram syndrome, which had been mapped to chromosome 12q. Although it was later found that Holt-Oram syndrome is caused by mutations in the closely linked human TBX5 gene (Basson et al., 1997; Li et al., 1997), mutations in TBX3 were identified in individuals with ulnar-mammary syndrome, a developmental disorder that was also mapped to this chromosomal region (Bamshad et al., 1995; Bamshad et al., 1997). A number of different mutations in TBX3 have been identified in families with ulnar-mammary syndrome, most of which are predicted to encode truncated proteins or missense mutations resulting in loss of function (Coll et al., 2002) (for a review, see Papaioannou, 2001). UMS is fully penetrant but ...
Symptoms of the following disorders can be similar to those of Lenz microphthalmia syndrome. Comparisons may be useful for a differential diagnosis: Cataract-dental syndrome is an extremely rare inherited disorder that is apparent at birth (congenital). It is characterized by abnormalities of the teeth; ears that are flared forward (anteverted) and unusually prominent; and/or clouding of the lens of the eyes (congenital cataracts), resulting in poor vision. In addition, the front (anterior), clear portion of the eye through which light passes (cornea) may be unusually small (microcornea), the entire eye may be abnormally small (microphthalmia), and/or the eyelids may droop (ptosis); affected individuals may also exhibit involuntary, rapid eye movements (nystagmus). In some cases, additional physical abnormalities and/or mental retardation may also be present. The range and severity of symptoms may vary from case to case. Cataract-dental (Nance-Horan) syndrome is inherited as an X-linked ...
Fetal behavioural patterns were examined to test whether they could be used to localise sites of brain damage antenatally. Decreased fetal movement, persistent nonreactive fetal heart rate (FHR) pattern, and/or central nervous system malformation were used as indicators of possible neurological impairment. Ten fetuses tested in this way underwent further ultrasound examination observing movement of the extremities, chest wall (breathing), and eye and mouth, and active/quiet FHR patterns. Eight of these 10 fetuses were found on postnatal examination to have a brain impairment. The fetuses having potential in utero brain impairment were divided into four groups: those with (1) lesion sites at, or caudal to, the pons-medulla that were specifically identified by fetal behaviour, (2) diffuse lesions in the brain which, although resulting in abnormal behaviour, could not be localised by this behaviour, (3) lesions localised in the cerebral hemisphere(s) but with no abnormal behaviour and (4) ...
The multiple anomalies that can occur with EA/TEF have been described by an acronym, VATER or VACTRRL. This acronym stands for v ertebral defect, a norectal malformation, c ardiac defect, t racheoesophageal fistula, r enal anomaly, r adial dysplasia, and l imb defects. About 10% of children with EA have what is called the VATER syndrome. More infants with Type A esophageal atresia have multiple anomalies than those with Type B, the combined EA/TEF. Healthy infants who have no complications, such as heart or lung problems or other types of intestinal malformations, can usually have esophageal surgery within the first 24 hours of life. The operation will be delayed for low birth weight infants or those with complicated malformations, usually until their nutritional status can be improved and other problems resolved sufficiently to reduce the risks of surgery. H-type TEF, which has fewer symptoms and is typically diagnosed when the child is at least four months old, is also easier to repair when ...
Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. Results: We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (007: 41046729-41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule
Case Study: Kabuki Syndrome. As a demonstration of DNASTARs pipeline, a rare Mendelian disorder known as Kabuki syndrome was used. Exome data sets were obtained through dbGaP. These data sets were from the published Kabuki syndrome study (Ng et. al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42, 30-35 (2010)). The syndrome, which is caused by autosomal dominant mutations, is rare with approximately 400 cases reported worldwide.. Ten case and eight control exome data sets were independently aligned to the human genome reference sequence using SeqMan NGen which also identified and annotated variants. Variants from each assembly were then loaded together into ArrayStar resulting in over 5.7 million independent positions located in about 32,000 genes across all samples after coalescing. The samples were then organized into two groups, Kabuki and Control, to facilitate subsequent filtering.. We first filtered at the variant level making three assumptions ...
Do You Have Pterygia Mental Retardation Facial Dysmorphism? Join friendly people sharing true stories in the I Have Pterygia Mental Retardation Facial Dysmorphism group. Find support forums, advice and chat with groups who share this life experience....
All information about the latest scientific publications of the Clínica Universidad de Navarra. Heterotaxy syndrome (polysplenia) in an adult
in European Journal of Human Genetics (2009), 17(10), 1325-35. Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental ... [more ▼]. Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked (Lenz) microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR, supporting the hypothesis that BCOR is the sole molecular cause of this syndrome. We ...
What is a congenital heart defect? The American Heart Association offers information about congenital heart defect, the risk of congenital heart defects in adults and children, the types of congenital heart defects, the symptoms of congenital heart defects, the diagnosis of congenital heart defects, the treatment of congenital heart defect and caring for those with congenital heart defects.
Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper...
This site focuses on bringing together the families of children diagnosed with Patau Syndrome. Also called Syndrome 13, having a third (extra) number Chromosome 13. Trisomy 13 children have multiple abnormalities. Some include heart defects, brain defects, cleft lip, cleft palate. The most severe are visual abnormalities, omphalocele, proboscis and holoprosencephaly. Because of the many abnormalities, we believe all of these children are survivors if they reach their mothers arms. They are true miracles of life. ...
1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.. About 75 percent of all children with a 1q21.1 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. The intellectual disability and learning problems associated with this genetic change are usually mild.. Distinctive facial features can also be associated with 1q21.1 microdeletions. The changes are usually subtle and can include a prominent forehead; a large, rounded nasal tip; a long space between the nose and upper lip (philtrum); and a high, arched roof of the mouth ...
List of 195 causes for Camptodactyly and Ear anomalies, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
Situations in which only positive findings are explicit are frequent in imaging procedures. Images can cover large areas or even the whole body, and identify multiple abnormalities, such as metastases, plaques in multiple sclerosis, or stenoses along the coronary system. In many cases the universe of possible findings (abnormalities or lesions) is very large and cannot be enumerated. The lack of a specific number of double-negative observations precludes the use of the classic formulation of the kappa statistic.. In this paper, we propose a variant of the kappa statistic that relies on the properties of the classic kappa statistic when the number of negative ratings can be considered large. In that case, agreement does not depend on the unknown data and can be estimated from positive findings only. This free-response kappa corresponds to the proportion of all confirmed individual positive ratings (2d) among all positive individual ratings (b + c + 2d).. Unlike simplifications that circumvent the ...
Prenatal ultrasound showed 2 fetuses with fused head, thorax and abdomen (Fig. 1), with a single umbilical cord with 3 arteries and 3 veins. A single face was noted with low set ears and retrognathia. These findings were confirmed on gross examination of the twins postnatally, which additionally demonstrated 2 partially fused external ears on the opposite side (Fig. 2). Fetal ultrasound and postmortem CT of formalin-preserved specimen showed 2 cerebral hemispheres with an absent corpus callosum, partially fused thalami (Fig. 3), 4 cerebellar hemispheres (Fig. 4), 2 pituitary glands and 4 internal ears (Fig. 5). There were 2 separate hearts with shared circulation (Fig. 6) with one relatively normal heart with persistent left SVC, and one hypoplastic heart (Fig. 7). Two separate livers were noted (Fig. 8). Volume-rendered CT images showed fused cranial vault, 2 unfused spines with partial fusion of the posterior elements of C3 to C5, and 8 limbs (Fig. 9 ...
Over vigorous attempts resulted in a false passage and surgical emphysema in the neck. Palpation in the suprasternal space failed to locate the trachea. A quick look for other congenital anomalies revealed the presence of imperforate anus, hypospadias, low set ears with malformed left pinna, epicanthic folds, and hypertelorism. Cardiac examination was unremarkable. The baby died from progressive hypoxaemia at 18 hours of life. Autopsy revealed tracheal agenesis with tracheo-oesophageal fistula.. Tracheal agenesis is a rare congenital anomaly occurring with an estimated frequency of two per 100 000 live births.2Payne first reported it in 1900,3 and so far about 100 cases have been described.1 ,4 ,5 Floydet al classified tracheal agenesis into three types.6 In type I, only short segment of distal trachea is present. It arises from the oesophagus and then divides into the main stem bronchi. Type II is characterised by a completely absent trachea but both the main bronchi join in the midline. In ...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome. Typical clinical features include a distinctive facial appearance, mental retardation, autistic behavior, hypotonia, failure to feed, poor growth, decreased life span, and variable structural anomalies of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia and kidneys. The SLOS phenotypic spectrum is broad and variable. At the severe end of the spectrum SLOS is a lethal disorder with multiple major congenital anomalies; whereas, mild cases of SLOS present with a combination of minor physical stigmata, behavioral problems, and learning disabilities. SLOS is due to an inborn error of cholesterol biosynthesis. Biochemically, SLOS patients have a deficiency of 3beta-hydroxysterol delta(7)-reductase activity. 3beta-hydroxysterol delta(7)-reductase is an NADPH dependent microsomal enzyme that catalyzes the reduction of the C7(8) double bond of 7-dehydrocholesterol (7-DHC) ...
Cat eye syndrome is a rare disease that is common throughout all ethnicities A Symptom is that there is an absence of tissue in the one or both eyes Irises. Causes for cat eye syndrome Types of Test Mild mental retardation, Emotional retardation, Wide-set eyes, Down-slanting palpebral fissures, Inferior coloboma of iris, Inferior coloboma of choroid, Inferior coloboma of retina, Small lower jaw, Preauricular pits, Preauricular tags, Cardiac defects, Anal atresia, Rectovestibular fistula, Renal agenesis, Hernia, Scoliosis, Skeletal problems, Short stature, Kidney problems, Missing kidney, Extra kidney, Underdeveloped kidneys, Failure to thrive, Sloping forehead, Prominent back of skull, Large fontanelles, Widely patent cranial sutures, Epicanthal folds, Depressed nasal bridge, Long philtrum, Widely spaced nipples, Narrow chest, Small ears, External auditory canal atresia, Missing ears, Absent ear canal, Short neck, Low hairline at back of neck, Misaligned teeth, Cleft lip, Choanal atresia, ...
Looking for online definition of megacystis-microcolon-intestinal hypoperistalsis syndrome in the Medical Dictionary? megacystis-microcolon-intestinal hypoperistalsis syndrome explanation free. What is megacystis-microcolon-intestinal hypoperistalsis syndrome? Meaning of megacystis-microcolon-intestinal hypoperistalsis syndrome medical term. What does megacystis-microcolon-intestinal hypoperistalsis syndrome mean?
A five-year-old girl patient was admitted with cyanosis and dyspnea, which started from birth. She had small telangiectatic lesions on her face and cerebral arteriovenous malformation, but no family history of hereditary hemorrhagic telangiectasia. Contrast echocardiography and pulmonary angiography demonstrated diffuse pulmonary arteriovenous fistulas. The patient was diagnosed as polysplenia syndrome characterized with left atrial isomerism, interrupted inferior vena cava, azygous continuation to the superior vena cava, and hepatic veins draining to the right atrium. In contrast to the other polysplenia syndrome cases, in this patient, pulmonary arteriovenous fistulas were not associated with cavopulmonary anastomoses or liver disease.
Anomalous pulmonary venous connection (partiel) | Surgical correction of partiel anomalous pulmonary venous connection. Cardiosurgery: Treatment in Marburg, Germany ✈. Prices on BookingHealth.com - booking treatment online!
Van der Woude syndrome (VWS) is the most common syndromic form of cleft lip and palate. It is an autosomal dominant disorder characterized by pits and/or sinuses of the lower lip, cleft lip, cleft palate and uvular anomalies. Other findings may include ankyloglossia and hypodontia. VWS1 (MIM 119300) and VWS2 (MIM 606713) are caused by mutations in the IRF6 and GRHL3 genes, respectively. IRF6 codes for interferon regulatory factor 6 and GRHL3 codes for grainyhead-like protein 3 homolog.. The Van der Woude syndrome NGS panel consists of two genes: GRHL3 and IRF6.. Copy number variation (CNV) analysis of the Van der Woude syndrome genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.. Read less ...

POEMS syndrome symptoms, treatments & forums | PatientsLikeMePOEMS syndrome symptoms, treatments & forums | PatientsLikeMe

Multiple Myeloma Patient Thread about 3 hours ago * Chemo and radiation for breast cancer while also having crps and diabeties ... and Skin abnormalities (including hyperpigmentation). At least two of these conditions are needed for POEMS diagnosis. ...
more infohttps://www.patientslikeme.com/conditions/987-poems-syndrome

European Journal of Case Reports in Internal MedicineEuropean Journal of Case Reports in Internal Medicine

During the admission, multiple combinations of antibiotic and antifungal treatments were prescribed, but with persistent fever ... and CT of the thorax revealed aggravated middle lobe abnormalities with thickening of the bronchial wall and segment ...
more infohttps://www.ejcrim.com/index.php/EJCRIM/gateway/plugin/WebFeedGatewayPlugin/rss2

Multiple abnormalities - WikipediaMultiple abnormalities - Wikipedia

When a patient has multiple abnormalities (multiple anomaly, multiple deformity), they have a congenital abnormality that can ... Most medical conditions can have systemic sequelae, but multiple abnormalities occur when the effects on multiple systems is ...
more infohttps://en.wikipedia.org/wiki/Multiple_abnormalities

Canary Database: Browse by Outcome: Abnormalities, MultipleCanary Database: Browse by Outcome: Abnormalities, Multiple

Browse by Outcome: Abnormalities, Multiple (5 articles). % of records by year: 1965 2017 ...
more infohttp://canarydatabase.org/browse/outcome/772

20 week scan showing multiple abnormalities | Mumsnet20 week scan showing multiple abnormalities | Mumsnet

... which showed several suspected abnormalities. First they identified a 2 vessel cord vs 3. Apparently this isn ... At the follow-up appointment with the Sr Consultant, we were told that the baby had catastrophic brain abnormalities and that ... In addition to the issues with her brain, she had abnormalities with her heart, stomach, feet and hands. The Consultant thinks ... Just had my 20 week scan today (19+6), which showed several suspected abnormalities. First they identified a 2 vessel cord vs 3 ...
more infohttps://www.mumsnet.com/Talk/antenatal_tests_choices/3658505-20-week-scan-showing-multiple-abnormalities

Multiple Abnormalities in Glucose and Energy Metabolism and Coordinated Changes in Levels of Adiponectin, Cytokines, and...Multiple Abnormalities in Glucose and Energy Metabolism and Coordinated Changes in Levels of Adiponectin, Cytokines, and...

Multiple Abnormalities in Glucose and Energy Metabolism and Coordinated Changes in Levels of Adiponectin, Cytokines, and ... Multiple Abnormalities in Glucose and Energy Metabolism and Coordinated Changes in Levels of Adiponectin, Cytokines, and ... Multiple Abnormalities in Glucose and Energy Metabolism and Coordinated Changes in Levels of Adiponectin, Cytokines, and ... Multiple Abnormalities in Glucose and Energy Metabolism and Coordinated Changes in Levels of Adiponectin, Cytokines, and ...
more infohttp://circ.ahajournals.org/content/early/2004/12/13/01.CIR.0000150391.38660.9B

Multiple Lipoprotein Abnormalities in Type I Diabetic Patients With Renal Disease | DiabetesMultiple Lipoprotein Abnormalities in Type I Diabetic Patients With Renal Disease | Diabetes

Multiple Lipoprotein Abnormalities in Type I Diabetic Patients With Renal Disease. Per-Henrik Groop, Tom Elliott, Rogerio ... Multiple Lipoprotein Abnormalities in Type I Diabetic Patients With Renal Disease. Per-Henrik Groop, Tom Elliott, Rogerio ... Multiple Lipoprotein Abnormalities in Type I Diabetic Patients With Renal Disease Message Subject (Your Name) has forwarded a ... The aim of this study was to characterize abnormalities of triglyceride-rich apolipoprotein (apo) B-containing lipoproteins in ...
more infohttps://diabetes.diabetesjournals.org/content/45/7/974?ijkey=4952eecb99aeab7b0e23f80c4e4a98ea6437a872&keytype2=tf_ipsecsha

Evidence against the Involvement of Chronic Cerebrospinal Venous Abnormalities in Multiple Sclerosis. A Case-Control StudyEvidence against the Involvement of Chronic Cerebrospinal Venous Abnormalities in Multiple Sclerosis. A Case-Control Study

The objective of this study was to evaluate the relative prevalence of the venous abnormalities that define CCSVI. Methods A ... Conclusion This case-control study provides compelling evidence against the involvement of CCSVI in multiple sclerosis. ... Objective Multiple sclerosis (MS) is a chronic neurodegenerative disease of the CNS. Recently a controversial vascular ... Multiple sclerosis Is the Subject Area "Multiple sclerosis" applicable to this article? Yes. No. ...
more infohttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0072495

Association of age with fluorescence in situ hybridization abnormalities in multiple myeloma reveals higher rate of IGH...Association of age with fluorescence in situ hybridization abnormalities in multiple myeloma reveals higher rate of IGH...

Association of age with fluorescence in situ hybridization abnormalities in multiple myeloma reveals higher rate of IGH ... detected chromosomal abnormalities (CA) and age in multiple myeloma (MM). One hundred and nineteen patients with MM were ... 3.4%, p = 0.05). Myeloma cells from older patients were also three times more likely to have multiple CA. The presence of high- ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/22574971

Cytogenetic abnormalities in multiple myeloma: poor prognosis linked to concomitant detection in random and focal lesion bone...Cytogenetic abnormalities in multiple myeloma: poor prognosis linked to concomitant detection in random and focal lesion bone...

Cytogenetic abnormalities in multiple myeloma: poor prognosis linked to concomitant detection in random and focal lesion bone ... Cytogenetic Abnormalities in Multiple Myeloma: Poor Prognosis Linked to Concomitant Detection in Random and Focal Lesion Bone ... Cytogenetic Abnormalities in Multiple Myeloma: Poor Prognosis Linked to Concomitant Detection in Random and Focal Lesion Bone ... Cytogenetic Abnormalities in Multiple Myeloma: Poor Prognosis Linked to Concomitant Detection in Random and Focal Lesion Bone ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/19344415?dopt=Abstract

Receptor for Hyaluronan-Mediated Motility Correlates with Centrosome Abnormalities in Multiple Myeloma and Maintains Mitotic...Receptor for Hyaluronan-Mediated Motility Correlates with Centrosome Abnormalities in Multiple Myeloma and Maintains Mitotic...

... cytogenetic abnormalities (10), and centrosomal abnormalities within multiple myeloma plasma cell ex vivo. Elevated RHAMM ... Plasma cell from all multiple myeloma samples analyzed showed numerical, structural, and volumetric abnormalities ( Fig. 1A). ... Ex vivo analysis of the relationship between centrosomal abnormalities and RHAMM expression in multiple myeloma patient plasma ... 1D). As with centrosomal abnormalities, multiple myeloma patients varied considerably in the absolute amount of RHAMM ...
more infohttps://cancerres.aacrjournals.org/content/65/3/850?ijkey=a0bbe31c38ed2ee8a65e3b8b31c1a838584be226&keytype2=tf_ipsecsha

Abnormalities, Multiple (Topic) - Thomas County Public Library SystemAbnormalities, Multiple (Topic) - Thomas County Public Library System

Abnormalities, Multiple,/a,,/span, - ,span property=offers typeOf=Offer,,span property=offeredBy typeof=Library ll: ... Abnormalities, Multiple,/a,,/span, - ,span property=offers typeOf=Offer,,span property=offeredBy typeof=Library ll: ... Abnormalities, Multiple. Local Identifier. http://thomas.library.link/resource/O8vzytb-0I4/ Network Identifier. http://library. ... Abnormalities, Multiple The Resource Abnormalities, Multiple Label Abnormalities, Multiple. 3 Items that are about the Topic ...
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Abnormalities, Multiple | Profiles RNSAbnormalities, Multiple | Profiles RNS

Multiple" by people in this website by year, and whether "Abnormalities, Multiple" was a major or minor topic of these ... "Abnormalities, Multiple" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical ... Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles. ... Below are MeSH descriptors whose meaning is more general than "Abnormalities, Multiple". ...
more infohttp://profiles.wakehealth.edu/display/104231

Signs of Multiple endocrine abnormalities -- adenylyl cyclase dysfunction - RightDiagnosis.comSigns of Multiple endocrine abnormalities -- adenylyl cyclase dysfunction - RightDiagnosis.com

... and the correct diagnosis for Multiple endocrine abnormalities - adenylyl cyclase dysfunction signs or Multiple endocrine ... adenylyl cyclase dysfunction including medical signs and symptoms of Multiple endocrine abnormalities - adenylyl cyclase ... Multiple endocrine abnormalities -- adenylyl cyclase dysfunction: Introduction. *Symptoms of Multiple endocrine abnormalities ... List of 37 Multiple endocrine abnormalities -- adenylyl cyclase dysfunction Symptoms Note that Multiple endocrine abnormalities ...
more infohttp://www.rightdiagnosis.com/m/multiple_endocrine_abnormalities_adenylyl_cyclase_dysfunction/signs.htm

Study renders insights into genetic abnormalities leading to multiple myelomaStudy renders insights into genetic abnormalities leading to multiple myeloma

Read full story of Study renders insights into genetic abnormalities leading to multiple myeloma at Health News Section, ... Approximately, 50,000 new cases of multiple myeloma are diagnosed each year. ... incidence of multiple myeloma affects 1.8 per cent in a population of 100,000. ... Home » News » Health News » Study renders insights into genetic abnormalities leading to multiple myeloma ...
more infohttps://www.newkerala.com/news/fullnews-339715.html

Abnormal Electrocardiogram With Multiple AbnormalitiesAbnormal Electrocardiogram With Multiple Abnormalities

Dominant sinus rhythm with ectopic atrial beats (AEB), not always premature, denoted by abnormal P waves in beat numbers 2, 4, 6, 8, 10, and 11
more infohttps://www.radcliffecardiology.com/articles/grossly-abnormal-electrocardiogram

Abnormalities, Multiple (Topic) - ROWVA CUSD #208Abnormalities, Multiple (Topic) - ROWVA CUSD #208

Abnormalities, Multiple,/a,,/span, - ,span property=offers typeOf=Offer,,span property=offeredBy typeof=Library ll: ... Abnormalities, Multiple,/a,,/span, - ,span property=offers typeOf=Offer,,span property=offeredBy typeof=Library ll: ... Abnormalities, Multiple. Local Identifier. http://rowva.library.link/resource/O8vzytb-0I4/ Network Identifier. http://library. ... Abnormalities, Multiple The Resource Abnormalities, Multiple Label Abnormalities, Multiple. 2 Items that are about the Topic ...
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Abnormalities, Multiple (Topic) - Desoto Trail Regional LibraryAbnormalities, Multiple (Topic) - Desoto Trail Regional Library

Abnormalities, Multiple,/a,,/span, - ,span property=offers typeOf=Offer,,span property=offeredBy typeof=Library ll: ... Abnormalities, Multiple,/a,,/span, - ,span property=offers typeOf=Offer,,span property=offeredBy typeof=Library ll: ... Abnormalities, Multiple. Local Identifier. http://desoto-trail.library.link/resource/O8vzytb-0I4/ Network Identifier. http:// ... Abnormalities, Multiple The Resource Abnormalities, Multiple Label Abnormalities, Multiple. 3 Items that are about the Topic ...
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Abnormalities, Multiple (Topic) - University of Missouri LibrariesAbnormalities, Multiple (Topic) - University of Missouri Libraries

Abnormalities, Multiple Resource Information The topic Abnormalities, Multiple represents a specific aggregation or gathering ... Context of Abnormalities, Multiple Focus of. * Abnormalities, Multiple * Abnormalities, Multiple -- diagnosis * Abnormalities, ... Abnormalities, Multiple,/a,,/span, - ,span property=potentialAction typeOf=OrganizeAction,,span property=agent typeof= ... Abnormalities, Multiple,/a,,/span, - ,span property=potentialAction typeOf=OrganizeAction,,span property=agent typeof= ...
more infohttp://link.library.missouri.edu/resource/O8vzytb-0I4

Abnormalities, Multiple (Topic) - Oconee Regional Library SystemAbnormalities, Multiple (Topic) - Oconee Regional Library System

Context of Abnormalities, Multiple Focus of. * Abnormalities, Multiple -- Biography * Abnormalities, Multiple -- psychology -- ... Abnormalities, Multiple Resource Information The topic Abnormalities, Multiple represents a specific aggregation or gathering ... Abnormalities, Multiple,/a,,/span, - ,span property=potentialAction typeOf=OrganizeAction,,span property=agent typeof= ... Abnormalities, Multiple,/a,,/span, - ,span property=potentialAction typeOf=OrganizeAction,,span property=agent typeof= ...
more infohttp://oconee.library.link/resource/O8vzytb-0I4/

Abnormalities, Multiple (Topic) - Sara Hightower Regional LibraryAbnormalities, Multiple (Topic) - Sara Hightower Regional Library

Abnormalities, Multiple Resource Information The topic Abnormalities, Multiple represents a specific aggregation or gathering ... Abnormalities, Multiple,/a,,/span, - ,span property=potentialAction typeOf=OrganizeAction,,span property=agent typeof= ... Abnormalities, Multiple,/a,,/span, - ,span property=potentialAction typeOf=OrganizeAction,,span property=agent typeof= ... Abnormalities, Multiple. Local Identifier. http://sara-hightower.library.link/resource/O8vzytb-0I4/ Network Identifier. http:// ...
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Multiple vascular abnormalities and
a paradoxical combination of vitamin B12 deficiency and thrombocytosis in a case with POEMS...Multiple vascular abnormalities and a paradoxical combination of vitamin B12 deficiency and thrombocytosis in a case with POEMS...

Multiple vascular abnormalities and a paradoxical combination of vitamin B12 deficiency and thrombocytosis in a case with POEMS ... We assume that the high VEGF levels caused the vascular abnormalities observed in our patient. ...
more infohttps://link.springer.com/article/10.1007%2Fs00415-003-0261-7

Abnormalities, Multiple (Topic) - Heyworth CUSD #4 - High SchoolAbnormalities, Multiple (Topic) - Heyworth CUSD #4 - High School

Abnormalities, Multiple Resource Information The topic Abnormalities, Multiple represents a specific aggregation or gathering ... Abnormalities, Multiple,/a,,/span, - ,span property=potentialAction typeOf=OrganizeAction,,span property=agent typeof= ... Abnormalities, Multiple,/a,,/span, - ,span property=potentialAction typeOf=OrganizeAction,,span property=agent typeof= ... Abnormalities, Multiple. Local Identifier. http://heyworthhighschool.library.link/resource/O8vzytb-0I4/ Network Identifier. ...
more infohttp://heyworthhighschool.library.link/resource/O8vzytb-0I4

abnormalities, multiple (Concept) - College of Physicians of Philadelphiaabnormalities, multiple (Concept) - College of Physicians of Philadelphia

abnormalities, multiple Resource Information The concept abnormalities, multiple represents the subject, aboutness, idea or ... Context of abnormalities, multiple Subject of. * On Exercise for Prevention and Cure of Deformities. ... Data Citation of the Concept abnormalities, multiple. Copy and paste the following RDF/HTML data fragment to cite this resource ... abnormalities, multiple,/a,,/span, - ,span property=potentialAction typeOf=OrganizeAction,,span property=agent typeof= ...
more infohttp://link.collegeofphysicians.org/resource/q2K-h5VnTO0/

Abnormalities, Multiple (Topic) - Washington County Cooperative Library ServicesAbnormalities, Multiple (Topic) - Washington County Cooperative Library Services

Abnormalities, Multiple,/a,,/span, - ,span property=offers typeOf=Offer,,span property=offeredBy typeof=Library ll: ... Abnormalities, Multiple,/a,,/span, - ,span property=offers typeOf=Offer,,span property=offeredBy typeof=Library ll: ... Abnormalities, Multiple. Local Identifier. http://link.wccls.org/resource/O8vzytb-0I4/ Network Identifier. http://library.link/ ... Abnormalities, Multiple The Resource Abnormalities, Multiple Label Abnormalities, Multiple. 9 Items that are about the Topic ...
more infohttp://link.wccls.org/resource/O8vzytb-0I4/
  • These results show that chronic exposure to foreign antigens may be associated with abnormalities of immunologic function, but that chronically transfused patients do not have the same immunologic profile as reported in some homosexuals and hemophiliacs. (annals.org)
  • In conclusion, in type I diabetic patients with early renal disease, there are multiple lipoprotein changes, which are potentially atherogenic and may contribute to the excess of macrovascular complications seen in such patients. (diabetesjournals.org)
  • Common findings for the second and third trimesters include macrosomia, enlarged kidneys, renal tumors (both hamartoma and Wilms), cardiac abnormalities and visceromegaly. (wikipedia.org)
  • Finding the colon cancer causal mutation so efficiently demonstrates how our technology can support high throughput discovery of other abnormalities in the human genome, accelerating genetic-based disease research and delivering information toward finding cures. (nrgene.com)
  • It was characteristics such as these that led Zamboni and colleagues to hypothesize that MS was associated with abnormalities of the drainage of the cerebral venous system and that, along with vascular iron leakage, were involved in progression of the disease - . (plos.org)
  • Ness Ziona, Israel - 17 October 2017 - NRGene , the worldwide leader in genomic assembly and analysis, has demonstrated its ability to discover, analyze, and track abnormalities within the human genome, across multiple subjects. (nrgene.com)
  • The cloud-based platform is fully scalable as data from multiple sources can be quickly and easily integrated. (nrgene.com)