Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diabetes may be associated with many genetic disorders. The scientific importance of these often rare disorders resides in the insight they may provide into the possible mechanisms of common diabetes. The type of diabetes varies in these syndromes. Non-insulin-dependent diabetes (NIDDM), clinically similar to common NIDDM, may be found in some syndromes (e.g. Werner's syndrome). In others there may be considerable insulin resistance, such as that present in ataxia telangiectasia. Extreme insulin resistance due to abnormal insulin receptor function is found in the Mendenhall syndrome. The mechanism of diabetes is more obscure in acute intermittent porphyria (AIP), although haem deficiency affecting the cytochrome chain raises interesting possibilities. In glycogen storage disease type I, the diabetes is associated with insulinopenia, following an earlier period in the disease when hypoglycaemia is the rule. IDDM, clinically similar to the common form, is present in the autoimmune polyglandular syndromes. Although a change in the lean:fat ratio is common in many neuromuscular disorders, mechanisms other than insulin resistance would seem to operate. The increased incidence of diabetes in heterozygotes for some of these genetic disorders raises the possibility that many common diabetics are, in fact, heterozygotes for some other disorder. The increased frequency of diabetes in Klinefelter's syndrome, Turner's syndrome and possibly Down's syndrome leads to the hypothesis that non-disjunction may, in some way be associated with the predisposition to diabetes. In several syndromes there is an increased incidence of diabetes in otherwise unaffected relatives of individuals with these syndromes. It is impossible to assess what proportion of common NIDDM or IDDM is made up of heterozygotes for these genetic syndromes.
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PMID:Diabetes secondary to genetic disorders. 144 74

Forty-seven children with nonrhabdomyosarcomatous soft-tissue sarcomas (NRSTS) were treated by the Hematology-Oncology Service at Texas Children's Hospital, Houston, Texas, between 1958 and 1990. The male:female ratio was 1:1, and the median age was 11 years (3 weeks-16 years). A preexisting condition was found in 9/47 (19%) patients including neurofibromatosis (3), Down's syndrome (1), spina bifida (1), congenital facial asymmetry (1), giant pigmented nevus (1), juvenile onset diabetes mellitus (1), and acquired immune deficiency syndrome (1). The site of primary tumor was head and neck (3), trunk (33), and extremities (11). Twenty-four patients (51%) have survived free of disease with a median follow-up of 5 years (4 months-22 years). No patient whose disease recurred achieved a second remission. Of the 19 patients with group I disease, 16 (84%) survived free of disease. Wide excision of the primary tumor, with no microscopic residual disease, was associated with the greatest chance of disease-free survival.
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PMID:Soft-tissue sarcomas other than rhabdomyosarcoma in children. 173 15

In a pilot study, on a hospital-based series consisting of 285 type 1 and 282 type 2 patients with Diabetes Mellitus (DM) we compared the month-of-birth with the standard birth curve. In accordance with a previous investigation on 23,620 diabetics in the Netherlands, we found an excess of DM births in the first quarter of the year (p less than 0.005) and a deficiency of them during the last one. This excess corresponds with conceptions during the spring restoration of the ovulatory pattern, this deficiency with conceptions during its winter stabilization. Identical peaks and troughs have been found in month-of-birth studies of individuals with chromosomal anomalies and with anencephaly. Similarly, ovopathy--which we consider a common cause for multiple anomalies--can explain the high incidence of DM in Down's syndrome as well as in other chromosomal aberrations, and its association with unusual dermatoglyphics. Furthermore, the ovopathy concept appears in line with the consistently found maternal age and parity effect, the discordancy in one-egg twins and the distortion of HLA-DR phenotype distribution in IDDM multiplex families. Although our conclusions must be guarded because of sample bias and doubts concerning precise classification, we found that the configurations were stronger in the type 2 DM sample. Ovopathy might prove to be the crucial environmental factor in the causation of IDDM--searched for by many scholars--and a common cause for both types. The HLA-DR haplotypes might rather be the "trigger", influencing the course and type of the disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Month-of-birth distribution of diabetics and ovopathy: a new aetiological view. 324 28

A 9-year-old boy with Down's syndrome developed a glomerulonephritis associated with crescents and anti-neutrophil cytoplasmic antibodies (ANCA). The patient also had type 1 diabetes mellitus, chronic lymphocytic thyroiditis, and bronchial asthma. Prednisone therapy resulted in an improvement in renal function and a reduction in ANCA titers.
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PMID:Anti-neutrophil cytoplasmic antibody associated glomerulonephritis in a patient with Down's syndrome. 870 24

We have examined whether insulin dependent diabetes mellitus (IDDM) affects maternal serum levels of inhibin-A, a recently described prenatal marker of Down's syndrome, by comparing levels in 169 women with IDDM with levels in 432 nondiabetic pregnant women between 15 and 20 weeks of gestation. There was a small but significant increase in the inhibin-A level in the diabetic women only when levels were corrected for maternal weight: median MoM 1.17 (P < 0.01 vs controls, Student's t test). The underlying mechanism for this elevation in pregnancies complicated by IDDM currently remains obscure.
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PMID:Maternal serum inhibin-A in pregnancies complicated by insulin dependent diabetes mellitus. 925 88

The prevalence of thyroid disease is increased in Down's syndrome. Compared with adults, thyroid dysfunction in children with Down's syndrome is less frequently reported. Insulin dependent diabetes mellitus is also uncommon in Down's syndrome children. Coexistent insulin dependent diabetes mellitus and hyperthyroidism in Down's syndrome was only reported once previously in literature. We report an 8-year-old girl with Down's syndrome that had polyuria, polydipsia, abdominal pain and urinary incontinence one and half a month prior to admission. Physical examination revealed typical face of Mongolism and tachycardia. Thyroid glands were not palpable. Laboratory data revealed diabetic ketoacidosis with plasma glucose: 860 mg/dl. She had thyroid hyperfunction with TSH: < 0.1 microU/ml, T3: 219.7 ng/dl, T4: 15 micrograms/dl. Thyroid autoimmune antibodies were also increased. There was markedly increased radiotracer uptake in the bilateral thyroid glands in Tc-99 thyroid scan. We suggest that Down's syndrome children with insulin dependent diabetes mellitus should be evaluated carefully for thyroid function and autoimmune disease.
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PMID:Coexistent insulin dependent diabetes mellitus and hyperthyroidism in a patient with Down's syndrome. 1093 53

Celiac disease is an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals. It occurs in children and adolescents with gastrointestinal symptoms, dermatitis herpetiformis, dental enamel defects, osteoporosis, short stature, delayed puberty and persistent iron deficiency anemia and in asymptomatic individuals with type 1 diabetes, Down syndrome, Turner syndrome, Williams syndrome, selective immunoglobulin (Ig)A deficiency and first degree relatives of individuals with celiac disease. The Celiac Disease Guideline Committee of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition has formulated a clinical practice guideline for the diagnosis and treatment of pediatric celiac disease based on an integration of a systematic review of the medical literature combined with expert opinion. The Committee examined the indications for testing, the value of serological tests, human leukocyte antigen (HLA) typing and histopathology and the treatment and monitoring of children with celiac disease. It is recommended that children and adolescents with symptoms of celiac disease or an increased risk for celiac disease have a blood test for antibody to tissue transglutaminase (TTG), that those with an elevated TTG be referred to a pediatric gastroenterologist for an intestinal biopsy and that those with the characteristics of celiac disease on intestinal histopathology be treated with a strict gluten-free diet. This document represents the official recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition on the diagnosis and treatment of celiac disease in children and adolescents.
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PMID:Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. 1562 18

A case is presented of a 39-year-old male with Down's Syndrome, who also had type 1 diabetes of 22 years duration. He presented with diabetic ketoacidosis (DKA)-arterial blood pH 7.17, plasma bicarbonate 13.6mmol/l, plasma glucose 26.4mmol/l and urine heavily positive for ketones. He recovered with standard intravenous fluid and insulin treatment, but on the third day of admission developed a swollen left arm (which had not been used for intravenous cannulation). Doppler ultrasound confirmed a left axillary vein thrombosis. This slowly resolved with anticoagulation. Review of the available literature revealed that though arterial thrombosis is a common complication of DKA, venous thromboembolism is surprisingly rare, and there appear to be no previous specific reports of axillary vein thrombosis complicating DKA.
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PMID:Diabetic ketoacidosis complicated by axillary vein thrombosis. 1641 42

There is an unexplained excess of type 1 diabetes and other organ-specific autoimmune diseases in children with Down's syndrome, but the immunogenetic characteristics of diabetes in Down's syndrome have not been investigated. We studied the frequency of islet autoantibodies in 106 children with Down's syndrome and no history of autoimmunity and analyzed HLA class II genotypes in 222 children with Down's syndrome, 40 children with Down's syndrome and type 1 diabetes, 120 age- and sex-matched children with type 1 diabetes, and 621 healthy control subjects. Co-occurrence of at least two islet autoantibody markers was observed in 6 of 106 nondiabetic children with Down's syndrome compared with 13 of 2,860 healthy age-matched children (P < 0.001). There was an excess of diabetes-associated HLA class II genotypes in children with Down's syndrome and type 1 diabetes compared with age- and sex-matched healthy control subjects (P < 0.001). Down's syndrome children with type 1 diabetes were, however, less likely to carry the highest risk genotype DR4-DQ8/DR3-DQ2 than children with type 1 diabetes from the general population (P = 0.01) but more likely to carry low-risk genotypes (P < 0.0001). The frequency of subclinical islet autoimmunity is increased in Down's syndrome, and susceptibility to type 1 diabetes in Down's syndrome is partially HLA mediated. Other factors, possibly including genes on chromosome 21, may increase the penetrance of type 1 diabetes in Down's syndrome.
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PMID:Islet autoimmunity in children with Down's syndrome. 1706 60

Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely limited to tumor cell lines or transformed derivatives of native tissues. Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance; these diseases include adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome. Such disease-specific stem cells offer an unprecedented opportunity to recapitulate both normal and pathologic human tissue formation in vitro, thereby enabling disease investigation and drug development.
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PMID:Disease-specific induced pluripotent stem cells. 1869 44


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