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

A female patient with the following symptoms has been observed: complete absence of subcutaneous fat on the arms and legs, well developed adipose tissue on the trunk and face, severe hyperlipidemia, eruptive xanthomas, insulin resistant diabetes mellitus with lack of ketoacidosis, hepatomegaly and elevated basal metabolic rate. The patient thus exhibited all characteristics of lipatrophic diabetes (Lawrence type of diabetes). The mother and a sister of the patient were found to have the same peculiar appearance and a slight hyperlipidemia but no diabetes mellitus. The combination of this type of partial lipodystrophy with severe hyperlipidemia, insulin resistant diabetes mellitus without ketoacidosis and elevated basal metabolic rate was further observed in 2 unrelated patients without known familial occurrence. Thus partial lipodystrophy of the extremities is another, previously undescribed, syndrome associated with the Lawrence type of diabetes mellitus. In the 1 family the syndrome of lipodystrophy and hyperlipidemia is dominantly inherited. Besides the autosomal recessively inherited syndrome of congenital generalized lipodystrophy there is a heterogenous group of dominantly inherited syndromes with various types of lipodystrophy.
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PMID:Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. 17 Jan 90

The coexistence of partial lipodystrophy of unusual distribution (limbs, back and head) with insulin-resistant diabetes and severe retinal, renal, neurological and arterial complications is reported. The lipodystrophy followed juvenile arthritis (Still's disease) and the diabetes, initially asymptomatic, became insulin dependent and technically insulin resistant (200 - 300 units insulin/day). Severe hyperlipidaemia has been a feature of this syndrome, probably contributing to the conspicuous peripheral arterial disease. The mother was diabetic but three sisters had normal glucose tolerance and there is no lipodystrophic member of the family. Underlying mechanisms of this syndrome remain obscure.
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PMID:Partial lipodystrophy and insulin-resistant diabetes. 68 Mar 14

A 64-year-old black man presented with the syndrome of acanthosis nigricans and insulin-resistant diabetes mellitus requiring up to 3000 units of insulin per day. The patient's plasma contained circulating antibodies to insulin receptors thought to be responsible for the insulin resistance. The marked insulin resistance, the manifestations of acanthosis nigricans, the evidence of immunologic dysfunction by the absence of expected circulating antibodies to insulin, and the demonstration of circulating antibodies to insulin receptors put this patient in Kahn's category B of insulin resistance and acanthosis nigricans. There was no evidence of malignancy, lipodystrophy, or endocrine abnormality. The occurrence of acanthosis nigricans with insulin resistance due to binding of cell membrane insulin receptors by antibodies has been reported exclusively in women. This case report is the first description of a male patient with the syndrome of insulin resistance and acanthosis nigricans and focuses attention on features that might mislead one to suspect other causes of insulin resistance.
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PMID:Insulin resistance and acanthosis nigricans. Report of a case with antibodies to insulin receptors. 108 35

A familial syndrome of partial lipodystrophy inherited as a dominant trait is reported. Subcutaneous fat loss was confined to the extremities and trunk. Diabetes mellitus, hyperlipidemia, hepatomegaly and renal disease were very prevalent in this family. Metabolic studies were performed on 3 members. In vivo tests suggested that the remaining fat tissue responded normally to stimulators and inhibitors of lipolysis. In vitro incubation of the dystrophic fat tissue of one patient suggested that the intracellular pathways of lipid and glucose metabolism were normal. The pattern of subcutaneous loss of adipose tissue observed in this family may be due to sympathetic nervous system overactivity of certain non-contiguous dermatomes.
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PMID:Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. 120 25

Mandibuloacral dysplasia (MAD) is a syndrome with onset in midchildhood. The predominant characteristics of MAD include flexion contractures; mandibular hypoplasia; loss of body fat; atrophic, speckled skin; and progressive osteolysis of the clavicles. We studied three males with MAD. Each had lipodystrophy of the extremities, with sparing of the face and neck. All had moderate hyperlipidemia. In response to oral glucose, each had a diabetic response, with peak insulin levels between 2870 and 22,960 pmol/L. Insulin-stimulated glucose disposal was determined in two patients with MAD. At an insulin infusion rate of 120 mU/m2 per minute, glucose disposal was less than 25% of that measured at similar levels of insulinemia in nondiabetic control subjects, indicating marked insulin resistance in patients with MAD. The insulin resistance occurred without obesity, excessive levels of counterregulatory hormones, or anti-insulin-receptor antibodies. We suggest that MAD is a previously undescribed form of lipodystrophic insulin-resistant diabetes mellitus.
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PMID:Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. 173 53

Insulin resistance may be due directly to genetically programmed disorders of insulin action or acquired defects in which environmental factors influence insulin action. To address the issue of this distinction, we studied the ability of insulin to stimulate colony formation in primary cultures of erythroid progenitors (assumed to retain environmental influences) and immortalized T lymphocytes (presumed to reflect only genetic influences). Four patients with hyperinsulinemia and disturbed glucose metabolism were studied (2 patients with acanthosis nigricans, 1 of whom had circulating anti-insulin-receptor antibodies, 1 with partial lipodystrophy, and 1 with Cushing's syndrome). The mean colony-forming ability of their erythroid progenitor cells in response to insulin stimulation (less than or equal to 1.6 pM) was significantly blunted compared with control cells (P less than 0.05). The mean responsiveness of their immortalized T-lymphoblast cell lines to similar insulin concentrations was no different than that of control T-lymphocyte lines, consistent with an acquired cause for the observed insulin resistance in each case. A T-lymphocyte line from a patient with leprechaunism, however, showed no stimulation in response to physiological concentrations of insulin. With these same in vitro methodologies, there was normal T-lymphocyte line responsiveness to insulinlike growth factor I (IGF-I) or insulin concentrations greater than 8.6 pM; both of these responses could be completely blocked by preincubation with an antibody to the IGF-I receptor. These findings suggest that, despite resistance to physiological levels of insulin, the high circulating insulin concentrations present in the serum of these patients could mediate unwanted tissue-specific growth through an intact IGF-I receptor-effector mechanism.
Diabetes 1991 Jan
PMID:Use of in vitro clonogenic assays to differentiate acquired from genetic causes of insulin resistance. 184 48

Mandibuloacral dysplasia (MAD) is a syndrome characterized by partial lipodystrophy and a distinct phenotype, which includes progressive osteolysis of the mandible and clavicles, cutaneous atrophy, joint contractures, and diabetes mellitus. We now describe the results of hyperinsulinemic glucose clamps performed in conjunction with indirect calorimetry in two subjects with MAD. At a glucose level of 5 mmol/L and insulin concentration of over 6.5 x 10(4) pmol/L, glucose disposal rates were less than 20% of maximum insulin-stimulated glucose disposal in five nondiabetic controls. Basal hepatic glucose output was elevated in the two patients and was incompletely suppressed by a 1200 mU/m2.min infusion of insulin. Glucose and lipid oxidation rates were inappropriately elevated, reflecting marked hypermetabolism. Pharmacological concentrations of insulin failed to normally suppress lipid oxidation, diminish FFA levels, or adequately suppress glucagon levels. In summary, MAD is a unique form of lipodystrophic diabetes characterized by typical somatic features, extreme insulin resistance, and marked hypermetabolism.
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PMID:Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. 193 19

Insulin (I) preparations used formerly contained a large number of protein contaminants which are thought to be immunogenic and, hence, caused lipodystrophy, I-allergy and sometimes antibody-mediated I-resistance in many patients. Monocomponent (MC)-I and human I (HI) are virtually free of these peptides and are, therefore, very rarely accompanied by the above mentioned immunologic side effects. In this respect, however, HI offers only little advantage over MC-I although HI is the least immunogenic I. On the other hand, the formation of antibody to I in the diabetic mother is an important determinant of fetal outcome. And since children from diabetic mothers treated with HI are less frequently macrosomic, the use of HI is strongly recommended in women with diabetes before and during their childbearing years. Neutral HI action is somewhat shorter, although clinically not to a relevant extent and, furthermore, metabolic control is not improved by using HI compared wtih MC-I. These findings have been regarded as disadvantages of HI, together with the fact that about 20% of HI-treated patients experience a change of hypoglycemia symptoms during the course of their illness. While autonomic symptoms become weaker or disappear, patients have to react to neuroglycogenic symptoms which normally remain constant. However, the incidence of hypoglycemic events does not change during treatment with HI. Several reasons for this change of symptoms are discussed, such as long duration of diabetes, intensified therapy with near-normoglycemia, development of autonomic neuropathy, alcoholic beverages, and often insufficient instruction of patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Advantages and drawbacks of human insulin]. 203 4

Forty-two patients with nonalcoholic steatohepatitis were followed for a median of 4.5 yr (range = 1.5 to 21.5 yr). Except for two patients with lipodystrophy, all were obese; 35 of 42 were women, 26 of 32 were hyperlipidemic and 15 were hyperglycemic. Upper abdominal pain was the most common reason for presentation. Initial liver biopsy specimens showed the presence of macrovesicular fatty infiltration, lobular (acinar) inflammation, apoptosis, Mallory bodies (in four cases) and fibrosis (in 18 cases). Cirrhosis was present at initial diagnosis in one subject and in another two subjects liver biopsy showed marked fibrosis with disturbed architecture. Serial liver biopsy specimens revealed minimal or no apparent progression of the disorder in most of the patients, in keeping with their benign clinical course. However, one patient showed progression from fibrosis to cirrhosis during the 5-yr observation period, and in the patients with extensive fibrosis the liver disease evolved from one of active inflammation to one of inactive cirrhosis without fat or inflammation. The patient with cirrhosis later died of hepatocellular carcinoma. The severity or type of hepatic change did not correlate with the degree of obesity, hyperlipidemia or hyperglycemia. However, in individual patients, poorly controlled diabetes and rapid weight loss preceded the onset of steatohepatitis. We conclude that nonalcoholic steatohepatitis is a cause of hepatic inflammation histologically resembling that of alcohol-induced liver disease but usually slowly progressive and of low-grade severity. However, the disorder may ultimately result in cirrhosis. Nonalcoholic steatohepatitis should be distinguished from alcoholic steatohepatitis and recognized as a further cause of "cryptogenic cirrhosis."
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PMID:The natural history of nonalcoholic steatohepatitis: a follow-up study of forty-two patients for up to 21 years. 1503 Sep 72

We report a Malay girl suffering from generalised lipodystrophy, with clinical features of absence of body adipose tissue, hepatomegaly, hyperpigmentation and muscular hypertrophy. She also had hyperlipaemia, hypercholesterolemia and non-ketotic insulin-resistant diabetes mellitus. The possibility of malnutrition-related diabetes mellitus was excluded because of (a) no personal or family history of malnutrition (b) no pancreatic calcification (c) total loss of subcutaneous fat and (d) her requirement for insulin was more than 21.2 units/kg body weight which would be too high even for malnutrition-related diabetes mellitus. Attempts were made to control her diabetes initially with subcutaneous boluses insulin, then continuous intravenous insulin infusion (CIVII) and finally orally with fenfluramine and chlorpropamide.
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PMID:Generalised lipodystrophy. 239 9


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