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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Trisomy 21 is the most frequent chromosome anomaly found in the living newborns. Prenatal diagnosis by amniocentesis was limited until recently to older pregnant women. Maternal blood biochemical markers (alpha-fetoprotein, unconjugated estriol, human chorionic gonadotropin) and ultrasonographic signs (nuchal fold thickening, femur length to biparietal diameter ratio) can discriminate a group of higher-risk women even though they are not aged. Numerous factors need to be considered when establishing such a screening program including pre-analytical variables (gestational age, diabetes, smoking, race), analytical variables (choice of reagents, quality control) or post-analytical (result reporting, follow-up of abnormal results). Until now the study of these markers has been restricted to the second trimester but they could become useful earlier during pregnancy.
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PMID:[Prenatal diagnosis of trisomy 21]. 170 7

In previous reports, deficiencies in serum vitamin A were considered a frequent finding in persons with Down's syndrome. Based on this assumption, the regular determination of both serum carotene and vitamin A has been recommended for the preventive care of this population. In the author's preventive medicine clinic for children with Down's syndrome, we have checked these items routinely in 44 fasting patients (aged 14 months to 19 years). The author was surprised to find no patient with either a deficiency of carotene or vitamin A, but 14 patients had hypercarotenemia. Any known aetiology of this finding, such as excessive ingestion, diabetes mellitus or hypothyroidism, could not be verified. It has to be mentioned that the previous reports on serum carotene levels were based on determinations by conventional spectrophotometric methods (normal range: 50-670 micrograms/dl), whereas the author applied an improved method of high-performance liquid chromatography with a much lower normal range (50-750 micrograms/l). Further investigations are to be performed to verify these findings and to evaluate probable mechanisms of hypercarotenemia in persons with Down's syndrome.
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PMID:Hypercarotenemia in children with Down's syndrome. 214 33

A structured pre-planned form was used to collect data on age distribution and morbidity of Down Syndrome (DS). Survival rates are also reported. The incidence of autoimmune disease among DS individuals was higher than in the normal population. Alopecia (7%), atopic dermatitis (35%), and autoimmune thyroiditis were the most frequently reported conditions, but diabetes and ulcerative colitis were also observed.
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PMID:Down syndrome in the Belluno district (Veneto region, northeast Italy): age distribution and morbidity. 214 81

Maternal serum and amniotic fluid alpha-fetoprotein testing has increased significantly in our laboratory and throughout the state since 1985. The results of this test are reported in a novel fashion as multiples of the median. The calculation and reporting of the test results are highly dependent upon gestational age, maternal weight, race and presence or absence of maternal diabetes. When properly interpreted alpha-fetoprotein determinations are a good screening test for early detection of neural tube defects and Trisomy 21 (Down Syndrome). Our approach to screening, diagnosis and counseling is discussed.
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PMID:Maternal serum and amniotic fluid alpha-fetoprotein testing: our approach to screening, diagnosis and counseling. 246 17

Pregnancy outcome was followed in 123 women showing maternal serum alpha-fetoprotein, less than or equal to 0.50 MOM. In 28 cases AFP was secondarily considered as normal either after ultrasonography and correction of gestation age or after a second sample normal result. In 95 cases AFP level was confirmed lowered; perinatal outcome was normal in 70 cases and abnormal in 25. Among these 25 cases, 3 autosomal trisomies occurred, 2 trisomies 18 and 1 trisomy 21; in the 22 other cases, we observed antepartum risk factors (10 cases with impending premature labor or premature labor, 9 cases with chronic hypertension, 2 cases with Ag HBs hepatitis and 1 case with diabetes).
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PMID:[Results of pregnancies characterized by a decrease in the level of alpha-fetoprotein in the maternal blood]. 246 77

Down's syndrome has been associated with organ-specific autoimmunity and 'premature aging'. We studied 27 individuals with Down's syndrome (all trisomy 21, no translocations aged 0.5 to 50 years). Subjects were not preselected for autoimmunity. Six subjects had a history of hypothyroidism and three additional subjects had anti-microsomal antibodies (euthyroid). Three subjects had insulin-dependent diabetes mellitus and one additional subject had islet cell autoantibodies (non-diabetic). The percentage Ia (Dr) positive T cells exceeded the normal range in 7/26 (27%). The percent CD4+ and CD8+ T cells were not significantly different from control. A subgroup of Down's syndrome subjects (less than age 10) had a premature increase in the percentage of 3G5+ (age-related) T cells. Normal individuals express a similar percentage of 3G5+ T cells at age 50 to 70 years. The presence of T-cell activation and 'premature T-cell aging' may predispose Down's syndrome subjects to organ-specific autoimmunity and age-related disorders.
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PMID:Trisomy 21 (Down's syndrome): autoimmunity, aging and monoclonal antibody-defined T-cell abnormalities. 252 34

Defects in neutrophil or polymorphonuclear leukocyte (PMNL) chemotaxis have been observed in a number of clinical conditions, including Down's syndrome and insulin-dependent diabetes mellitus (IDDM), which tend to be associated with severe forms of periodontal disease. In addition, impaired PMNL chemotaxis is frequently detected in individuals with localized juvenile periodontitis (LJP). The ability to monitor PMNL function in vivo at the gingival sulcus should therefore be useful as a diagnostic test. In this regard, we developed a technique which measures the response of PMNLs to a chemotactic agent, e.g., casein and N-formylmethionylleucylphenylalanine (N-FMLP) placed directly into gingival crevices. The development of the technique and its relationship to in vitro assays of chemotaxis are discussed, and data obtained from tests of the assay on control and streptozotocin-induced diabetic rats and human subjects with various periodontal diseases and IDDM are presented. As compared with healthy subjects and control animals, atypical (double peak) and reduced crevicular PMNL response patterns were observed during oral and systemic diseases. This suggests that the in vivo assay with appropriate modifications can be used diagnostically to assess PMNL migratory dysfunction and to identify individuals who may be susceptible to severe forms of periodontal disease.
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PMID:In vivo assay of crevicular leukocyte migration. Its development and potential applications. 293 40

We describe a child with Down's syndrome who developed an insulin-dependent diabetes mellitus at the age of 8 years and hypothyroidism at the age of 17 years. Because of the well known tendency to autoimmune diseases of patients with Down's syndrome, an autoantibody screening was undertaken. Only a low titre for gastric parietal cell antibodies was repeatedly found, but a gastric biopsy did not reveal chronic atrophic gastritis. Thyroid function should be checked periodically in patients with Down's syndrome since they might suffer from hypothyroidism which may not be recognized for a long time because of its latent onset.
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PMID:Down's syndrome, hypothyroidism and insulin-dependent diabetes mellitus. 294 78

This is the second reported case of a child with holoprosencephaly and trisomy 21. The first case was born to a diabetic woman; in our case, there was no evidence of diabetes in the mother. Most of the distinctive facial features of Down syndrome were obscured by the presence of cyclopia and a supraorbital proboscis in this infant. The relevance of chromosome analysis in cases with holoprosencephaly is discussed.
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PMID:Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother. 297 34

A 17-year-old girl with Down syndrome is presented who developed coeliac disease, Graves' disease and diabetes type 1. Her HLA type was A3, A9, B8, B15, DR3, DR5.
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PMID:Coexistent coeliac disease, Graves' disease and diabetes mellitus type 1 in a patient with Down syndrome. 316 May 93


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