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

Spontaneous diabetes mellitus has been characterized in a line of nonobese purebred keeshond dogs as an insulin-requiring hereditary disorder with onset at between 2 and 6 mo of age. Diabetic dogs developed cataracts, became ketotic, hyperglycemic, hypercholesterolemic, lipemic, and hypoinsulinemic. Basal glucagon, cortisol, and T4 serum concentrations and responses to ACTH, TSH, and arginine were normal. Light microscopic studies of the pancreas by immunocytochemical procedures revealed the absence of islet B cells, the presence of A cells, and solitary B cells. Diabetic dogs had poor fecundity, and a single puberal diabetic male had poor semen quality and was unable to sire pups. Parents of diabetics and nondiabetic siblings were normal. This spontaneous form of diabetes mellitus, with similar lesions to the insulin-dependent diabetes of people, will be a valuable aid to comparative biomedical research of diabetes mellitus.
Diabetes 1980 Jul
PMID:Inherited, early onset, insulin-requiring diabetes mellitus of Keeshond dogs. 699 41

Diabetes mellitus and obesity are heterogeneous disorders that affect up to 5-8% of the population of Western Europe. The importance of genetic factors in these disorders is well established; however, the genes involved and the defects leading to the manifestation of disease are largely unknown. Family studies are a powerful tool with which to localize chromosomal regions linked to a genetic disorder. A genome-wide search for the genes associated with susceptibility to diabetes mellitus and obesity, combined with a more-specific, candidate-gene approach, should enable the identification of the loci involved in these diseases. Once regions linked to disease are identified, positional-cloning techniques can be used to track down the gene(s) responsible.
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PMID:Human diabetes and obesity: tracking down the genes. 776 95

The finding of multiple lipomas, or lipomatosis, can be a marker for several clinical or familial syndromes. Familial multiple lipomatosis is a benign hereditary disorder of adipose regulation associated with hyperlipidemia. Multiple symmetric lipomatosis involves the local infiltration of adipose tissue of the neck, upper torso and mediastinum. This condition is often found in alcoholics and has been associated with diabetes mellitus. An afflicted patient's family history is important both to reveal occult pathology and to help determine the disease's prevalence in the population. In this article, we report the case of a patient with sporadic multiple lipomatosis and provide a brief review of the literature.
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PMID:Sporadic multiple lipomatosis: a case report and review of the literature. 800 72

In 280 patients with IDDM, the positive family history of diabetes was 26.8% of IDDM probands. The prevalence of diabetes in relatives was 68% in first degree relatives, 28% in second degree relatives, and 4% in third degree relatives. HLA typing of 87 members in 13 pedigrees with IDDM was performed. These data support the hypothesis that IDDM is a multigenic hereditary disorder.
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PMID:[Familial aggregation and HLA typing of pedigrees in insulin-dependent diabetes mellitus]. 803 78

There is general agreement that Dupuytren's contracture is a genetic disorder that occurs predominantly in white men of Northern European ancestry. It appears rarely in the purely black population. We present our experience from Temple University of 8 black patients with Dupuytren's contracture. We also present a review of the world literature dealing with the black population and Dupuytren's disease. A total of 23 patients are reviewed, including our group. They all fall into the category of no Caucasian admixture and negative family history of Dupuytren's contracture. Every patient reviewed has at least 1 hand involved. History and presentation of disease, as well as epidemiological associations (e.g., age distribution, diabetes, and epilepsy), in our review are similar to that seen in the Caucasian population. The diathesis or predisposition for Dupuytren's contracture appears to be less extensive in our series of 8 black patients. History taking, with regard to occupation and possible traumatic etiology, remains a very useful tool.
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PMID:Dupuytren's contracture in the black population: a review. 807 70

Hyperlipidemia is first detected by an increase in the plasma concentrations of cholesterol and/or triglycerides, and implies an abnormality of plasma lipoprotein metabolism. Disorders of lipoprotein metabolism are often classified specifically according to the lipoprotein affected. The WHO classification of lipoprotein phenotypes is a useful means of showing which lipoproteins are present in excess in individual hyperlipidemic patients. Hyperlipoproteinemia can be secondary to other well-known diseases that affect plasma lipoprotein metabolism, for example, diabetes mellitus, hypothyroidism or nephrotic syndrome. When such diseases are excluded, the hyperlipoproteinemia is defined as primary hyperlipoproteinemia. Many primary hyperlipoproteinemias have a genetic basis and the underlying molecular defect has been clarified in some genetic disorders. Hyperlipoproteinemia is considered to be one of the major risk factors for atherosclerosis and the development of atherosclerosis depends on the type of hyperlipoproteinemia. In this sense, familial hypercholesterolemia is a clinically important primary hyperlipoproteinemia because of its high risk of ischemic heart disease and its high prevalence in a normal population (1/500). It is necessary to make an exact diagnosis of specific genetic disorder, if possible, to provide prognostic and therapeutic information.
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PMID:[Primary hyperlipoproteinemia]. 841 90

Structural hair changes may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder. We report a 22-month-old Turkish girl and her 10-month-old brother, whose scalp hair became fragile and sparse at about 6-7 months of age. Glucosuria, without diabetes or kidney disease, was detected 3-4 months later. Clinical examination revealed normal physical and mental development, and an analysis of plucked hairs showed dysplastic and broken hair shafts. Polarizing microscopy and scanning electron microscopic studies revealed torsion, and irregularities and impressions of the hair shaft, as seen in pili torti, trichorrhexis nodosa and pseudomonilethrix. Analysis of the amino-acid composition of the hair demonstrated a significant reduction of sulphonic cysteic acid and an elevated cysteine and lanthionine content in the girl, and elevated lanthionine levels in her brother. Electrophoretic analysis of the girl's hair proteins revealed a normal composition but a high extractability of hair proteins. The triad of hypotrichosis, structural hair-shaft defects and abnormal amino-acid composition, accompanied by glucosuria without diabetes, may represent a new genetic syndrome.
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PMID:Hypotrichosis, hair structure defects, hypercysteine hair and glucosuria: a new genetic syndrome? 874 49

Although non-insulin-dependent diabetes mellitus (NIDDM) is essentially a genetic disorder, environmental factors after birth including modernization-westernization and its related life style changes play an important role for the development of diabetes. Former prospective studies have indicated high prevalence of diabetes among the subjects with greater impairement of glucose tolerance, family history of diabetes, history of gestational diabetes and obesity. Beside these, more attention has been paid to the elevation of serum fatty acids and food composition as the provocative factors. In some populations, insulin resistance has been suggested to be a major cause of diabetes. In contrast, we have shown that most of the Japanese patients with NIDDM have impaired early insulin response after glucose loading and this should be important as a predictor for NIDDM.
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PMID:[Worsening factors for the progression of impaired glucose tolerance to diabetes mellitus learning from prospective studies]. 891 35

Persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is a genetic disorder which causes severe hypoglycaemia in the neonate. The beta cells fail to respond to changes in blood glucose levels in all the stages of the disease, which often ends with NIDDM. Fasting insulin, intact proinsulin and des 31,32 split proinsulin levels were measured in PHHI patients with active disease, patients after partial pancreatectomy, and those in clinical remission. All but one of the pancreatectomized patients developed diabetes and were hyperglycaemic on evaluation. Fasting insulin was comparable in pancreatectomized and medically treated patients. Des 31,32 split proinsulin levels were much higher in pancreatectomized compared to non-pancreatectomized patients (10.7 +/- 2.5 vs 3.4 +/- 0.8 pmol/l, p = 0.001) and age-matched control subjects (3.8 +/- 1.4 pmol/l, p = 0.018). Also the ratio of des 31,32 split proinsulin to total insulin plus proinsulin-like peptides was higher in pancreatectomized patients (18.7 +/- 2.8 vs 7.2 +/- 0.8% in non-pancreatectomized patients, p = 0.001, and 6.8 +/- 2.1% in normal control subjects, p = 0.004). Furthermore, des 31,32 split proinsulin was the dominating species of proinsulin-like molecules in the pancreatectomized patients (62.7 +/- 1.6% vs 45.5 +/- 3.8%, and 49.0 +/- 3.2% in non-pancreatectomized patients and control subjects, respectively, p = 0.001 and p = 0.0002). Intact proinsulin levels, and the proinsulin percentage, tended to be higher in pancreatectomized patients; however, the differences did not reach statistical significance. All parameters were similar in non-pancreatectomized patients and age-matched control subjects. Subgroup analysis showed comparable proinsulin-like peptide levels in patients with active disease and those in apparent clinical remission. Fasting levels of insulin and proinsulin-like peptides were also measured in a larger group of healthy children and young adults. Insulin and des 31,32 split proinsulin increased with age, the differences being most prominent when the young age group (0-8 years) was compared to the older groups (8-16 and > 16 years). The fasting levels of plasma insulin were correlated with those of intact proinsulin and des 31,32 split proinsulin (r = 0.82 and 0.81, respectively). Fasting insulin, intact proinsulin and des 31,32 split proinsulin were correlated with BMI (r = 0.55, 0.56 and 0.53, respectively). In summary, relative hyperproinsulinaemia was noted only in PHHI patients with increased secretory demand following pancreatectomy, but not in patients with active disease or those in spontaneous clinical remission. These findings suggest that abnormal proinsulin processing is not an intrinsic feature of PHHI despite the severe beta-cell dysfunction.
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PMID:Normal proinsulin processing despite beta-cell dysfunction in persistent hyperinsulinaemic hypoglycaemia of infancy (nesidioblastosis). 893 2

Approximately 1.5 million persons in the United States are affected by iron overload diseases, which are primarily caused by hereditary hemochromatosis--the most common genetic disorder in the United States. Hereditary hemochromatosis is characterized by increased iron absorption in the gastrointestinal tract, which may cause lifelong excessive iron absorption and accumulation and serious health effects, including arthritis, cirrhosis, diabetes, impotence, heart failure, and death. Hereditary hemochromatosis is an autosomal recessive disease; the estimated prevalence of the homozygous genotype is 1:200 - 1:250 persons, and 10% of persons are carriers. Although the disease was previously believed to affect primarily white males of northern European descent, recent data indicate hereditary hemochromatosis also occurs among blacks. Moreover, iron overload diseases are underdiagnosed among whites and may not be considered in other racial/ethnic groups (e.g., Hispanics) even when compatible symptoms and clinical findings are present. As part of a joint demonstration project during August-October 1995 to determine the overall prevalence of iron overload, CDC reviewed data from a health-maintenance organization (HMO) in San Diego, California; the prevalence among Hispanics appeared similar to that for non-Hispanic whites. This report presents the preliminary findings of an analysis of the prevalence of iron overload among Hispanics and compares these findings with nationally representative data from the Third National Health and Nutrition Examination Survey (NHANES III). These findings indicate that the prevalence of possible iron overload among Hispanic clients of the HMO based on initial screening was consistent with the nationwide prevalence of possible iron overload based on a single screening test for Hispanics of Mexican descent and non-Hispanic whites.
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PMID:Iron overload disorders among Hispanics--San Diego, California, 1995. 900 7


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