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

Blood sugar, blood insulin and the insulinogenic index after oral glucose were studied in 41 subjects with simple glaucoma. Clinical diabetes was present in 9.76% and asymptomatic diabetes in 21.95%. It is suggested that a high incidence of diabetes may be expected in simple glaucoma, probably as expressions of a common genetic disorder.
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PMID:[Simple glaucoma and diabetic disease]. 112 9

Glucokinase, the major enzyme that phosphorylates glucose upon entry into liver and islet beta-cells, has been considered a prime candidate for inherited defects predisposing to NIDDM. Now that the human gene has been isolated, this question has been addressed directly. Polymorphic markers flanking the gene were identified. These markers (microsatellites) are composed of variable numbers of dinucleotide repeats that vary in size, resulting in different alleles. Variably sized alleles can be typed rapidly from genomic DNA of individuals by the PCR. Studies of inheritance of glucokinase genes have revealed significant linkage in families with early-onset NIDDM, or MODY, and mutations have been identified within the coding region of the gene in some families. These studies are extremely encouraging, as they indicate that genes can be identified even in this heterogeneous genetic disorder. This study considers the phenotypes that result from glucokinase defects and the relationship of MODY to NIDDM, and it estimates the role of glucokinase defects in NIDDM in general.
Diabetes 1992 Nov
PMID:Glucokinase and NIDDM. A candidate gene that paid off. 139 13

Dysbetalipoproteinaemia is a genetic disorder characterized by accumulation of lipoprotein remnant particles in the plasma, accelerated atherosclerosis, and the abnormal apoprotein E2. Uncontrolled diabetes mellitus can aggravate the hyperlipidaemia associated with this disorder, presumably by increasing triglyceride synthesis and reducing very low density lipoprotein catabolism by lipoprotein lipase. This report documents the gradual amelioration of dysbetalipoproteinaemia in uncontrolled diabetes mellitus following therapy with exogenous insulin alone. Although the beneficial effects of insulin therapy in this patient may include inhibition of triglyceride synthesis and improved triglyceride catabolism, we propose that insulin may also stimulate clearance of atherogenic remnant lipoprotein particles.
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PMID:Potential role of insulin in the clearance of remnant lipoproteins in dysbetalipoproteinaemia. 199 70

Bloom's syndrome (BS) is a rare autosomal recessive genetic disorder in which diabetes mellitus unusually frequently develops as a complication. We report on a 21-year-old Japanese male patient with BS who exhibited impaired glucose tolerance (IGT) in the initial oral glucose tolerance test (OGTT) and had developed patterns of diabetes mellitus by the second OGTT at the 2-years-and-2-months follow-up. German and Passarge reported that the onset of diabetes in patients with BS was in late adolescence or early adulthood. Our results support the findings of German and Passarge. Therefore, when a person with BS reaches late adolescence or early adulthood, an OGTT is necessary to ascertain whether the patient has IGT or diabetes mellitus as a complication, regardless of whether or not diabetic signs such as glucosuria are present.
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PMID:Diabetes mellitus in a young man with Bloom's syndrome. 228 19

Unilateral renal agenesis with impaired renal function was found in all 3 siblings of a single family, in association with various metabolic disorders such as diabetes mellitus, hyperuricemia and hyperbilirubinemia with gallstones. The present report suggests that unilateral renal agenesis could occur as a manifestation of a genetic disorder.
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PMID:Unilateral renal agenesis associated with various metabolic disorders in three siblings. 229 49

Wolfram, or DIDMOAD, syndrome is a genetic disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. We studied a family in which only diabetes mellitus and primary optic atrophy were present in three female siblings. Two of these patients, fraternal twins, were subjected to a complete electrophysiologic examination. The possibility of an incomplete clinical expression of Wolfram syndrome, hypotheses of its genetic transmission, and diagnostic problems are discussed.
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PMID:Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases. 272 80

Non-insulin-dependent diabetes mellitus (NIDDM) is a genetic disorder characterized by two major pathogenic processes: reduced insulin action and a relative or absolute decrease in plasma insulin concentrations. We studied 116 nondiabetic siblings from 45 families to determine if in vivo insulin action showed any aggregation among siblings. Subjects were Pima Indians from the Gila River Indian Community in Arizona who, as a group, have the highest reported incidence and prevalence of NIDDM in the world. In vivo insulin action was determined by the euglycemic-clamp technique at two rates of insulin infusion in each subject with resulting mean plasma insulin concentrations of 119 and 1938 microU/ml. After adjustment for age, sex, and degree of obesity, there was significant aggregation among siblings of in vivo insulin action at the high insulin infusion rate (P less than or equal to .0001). Family membership independently accounted for approximately 34% of the variance in this measure of insulin action. Glucose uptake at the lower insulin infusion rate also showed familial aggregation (P less than .01), with family membership independently accounting for approximately 15% of the variance of this measurement. We conclude that in vivo insulin action is a familial characteristic. The familial component of insulin action occurs in addition to the effects of obesity, age, and sex on insulin action. Therefore it is not sufficient to simply know that an individual is lean or obese to predict his/her in vivo insulin resistance, because it must also be known whether he/she is from an insulin-resistant or insulin-sensitive family.(ABSTRACT TRUNCATED AT 250 WORDS)
Diabetes 1987 Nov
PMID:In vivo insulin action is familial characteristic in nondiabetic Pima Indians. 331 55

This review discusses the genetic factors in the development of arteriosclerosis and coronary heart disease (CHD). In several studies, multivariate analysis of prospective mortality/morbidity data and angiographic findings have indicated that a family history of CHD contributed to CHD risk independently of the established risk factors. In addition, ethnic groups that differ in the prevalence and incidence of CHD also markedly differ in blood groups and protein-enzymatic markers. These or other genetic differences may affect CHD rates. Data from fraternal and identical twins, the source of some early genetic CHD findings, are reviewed. Genetic disorders of lipoprotein metabolism and transport, such as familial hypercholesterolemia, as well as other monogenic disorders are discussed. The role of apoprotein E polymorphism i other monogenic disorders are discussed. The role of apoprotein E polymorphism in determining plasma LDL variability among individuals is considered. Recombinant DNA technology, molecular cloning, and the identification of restriction fragment length polymorphisms are new tools for investigators who assess DNA polymorphism. Recent advances in that domain include: DNA polymorphisms affecting blood levels of apo A-I and A-II, association of a DNA insertion on chromosome 19 with severe premature atherosclerosis, and information concerning linkage of the genes for various apolipoproteins. In addition, the evidence for a major genetic component in diabetes mellitus and research into the genetic aspects of hypertension are reviewed. The male/female ratio in pathologically and epidemiologically assessed atherosclerosis may provide clues to the role of genetics. Early structural changes in the coronary artery intima are compatible with the ethnic and gender predilection. A key question in understanding underlying mechanisms in atherosclerosis is why coronary arteries are occluded in individuals whose other arterial systems are largely unaffected. The review concludes with a discussion of the directions and implications of future genetic research in arteriosclerosis with an emphasis on uncovering genetically determined differences in arterial wall response to blood flow. Subpopulations with different genetic risks may be identified, in which case universal preventive strategies might be replaced with specific ones.
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PMID:Genetic aspects of arteriosclerosis. 352 20

Insulin-dependent diabetic patients have been reported to have abnormal suppressor T cell function. However, the importance of this abnormality in the etiology of the disease is difficult to evaluate, since the abnormality could be a result of hyperglycemia rather than a predisposing factor. A genetic condition in rats that closely resembles type I (insulin-dependent) diabetes mellitus made it possible to study their suppressor T cell status before they displayed the disease. Thus, monoclonal antibodies and a fluorescence-activated cell sorter were used to define lymphocyte subpopulations in these animals. In prediabetic rats the number of suppressor T cells was reduced strikingly. In vitro assays showed that lymphocytes from predisposed rats were also functionally deficient in regard to suppression. Susceptible rats inoculated with bone marrow cells from normal donors were protected from diabetes. Moreover, the numbers and functions of suppressor T cells in these marrow recipients were almost restored to normal. These observations indicate that a suppressor T cell abnormality is responsible for the hyperglycemia of diabetic rats and raises the possibility that the human disease has a similar etiology.
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PMID:Numerical and functional abnormaLity of T suppressor cells in diabetic rats. 622 5

Cystic fibrosis (CF) is the most common serious genetic condition in the White population groups. Thirty-three White patients (mean age 20 years, range 14-32 years) seen at an adult CF clinic at the Johannesburg Hospital between January 1980 and January 1983 are reviewed. All had elevated sweat chloride levels. There was a family history of CF in 45,5% of the cases. Most were of normal height but significantly underweight. Chronic obstructive pulmonary disease was present in 94% of the patients. Pulmonary infections played a major role in both symptomatic exacerbations and progressive lung disease. Most frequently, mucoid Pseudomonas aeruginosa and/or Staphylococcus aureus were cultured from the sputum. The management of infective exacerbations is discussed. Other respiratory complications included cor pulmonale, haemoptysis, recurrent pneumothorax and sinusitis. Chest radiographs and pulmonary function tests are also analysed. Gastro-intestinal complications included pancreatic exocrine insufficiency (94%), intestinal obstruction, cholelithiasis, and liver disease. Insulin-dependent diabetes occurred in 9%. Five pregnancies were recorded in 4 patients. By January 1983 there had been 7 deaths (mean age 19,4 years). Most of the patients are highly motivated, with few psychological problems, and appear to be well-functioning and integrated members of society.
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PMID:Experience at an adolescent and adult cystic fibrosis clinic. An analysis and overview. 671 Feb 79


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