Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An autopsy case of 23-years-old man with Prader-Labhart-Willi syndrome (P-L-W syndrome), who had died by acute renal failure due to burn injury, was reported. P-L-W syndrome was constituted by hypotonia, hypogonadism, hypomentia, obesity and other minor anomalies, however, CNS anomaly had not been reported. The patient sat at 3 years of age, walked at 4 years old, began to utter single words at 3-4 years, and he began to obese at 4 years of age. He fulfilled the condition of P-L-W syndrome mentioned above. On his age 15, laboratory findings on admission revealed remarkable diabetic pattern by oral glucose tolerance test and intelligence quotient was 28, and the other laboratory findings were within normal limit. During his clinical history, complications of diabetes mellitus, such as diabetic retinopathy and neuropathy, were aggrevated, and upstanding and gait were impossible at 20 years of age. On his age 23, he suffered from burn injury at left lower extremity and he fell in acute renal insufficiency. Five autopsy cases of P-L-W syndrome have been reported so far, however, CNS anomaly has not been observed. Following anomalies in our case was recognized, such as shortness of the frontal lobe, partial micropolygyria of the dentate nucleus, heterotopia of the inferior olivary nucleus, ectopia of Purkinje cell in the molecular layer, heterotopia of middle sized neuron in the deep white matter of the cerebellum and large number of residual nerve cells in the cerebral subcortical white matter.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of Prader-Labhart-Willi syndrome]. 407 78

The BioBreeding/Worcester (BB/W) rat is a model of spontaneous autoimmune diabetes mellitus and lymphocytic thyroiditis. Additional features supporting an immunologic pathogenesis of the BB/W syndrome include the protective action of antilymphocyte serum, neonatal bone marrow transfusions, and neonatal thymectomy. To evaluate other manifestations of immune dysregulation, the BB/W colony was surveyed for the presence of autoantibodies to a variety of tissue and cell constituents. Anti-smooth muscle and anti-thyroid colloid antibodies were present with great frequency in diabetic animals as well as in normoglycemic offspring of diabetic parents. Anti-parietal cell antibodies were less frequent and islet cell cytoplasmic and adrenal antibodies were not detected. These data suggest that the underlying defect in the BB/W rat is more likely to be an abnormal immune regulatory system than antigenically altered target tissues ("altered self") under attack by a normal immune surveillance system.
Diabetes 1982 Sep
PMID:Autoantibodies in the BB/W rat. 676 Dec 16

High leptin levels in Prader-Willi (P-W) syndrome may occur as a result of the existence of leptin resistance, because a hypothalamic disturbance may underlay this disorder. In order to study whether there is a defective action of leptin on the hypothalamus in P-W syndrome, we have measured leptin and insulin twice during the daily profile of blood glucose, comparing the results with the recent reports. The patient was a 22-year-old female, who showed the typical feature of P-W syndrome complicated overt diabetes. This case of P-W syndrome was only made to maintain a diet of 1840 kcal/day of examination under hospitalization and was not made to maintain a calorie diet on any other day of examination in clinic. There was no reduction of leptin observed during the day, especially around noon and mid-afternoon, both under hospitalization and in clinic. Our experience suggests that an absence of the normal fall in leptin during the day was not related to eating pattern in this case, but to the defective action of leptin on the hypothalamus as well as excessive production by adipose tissue.
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PMID:Daily profile of serum leptin in Prader-Willi syndrome complicated by diabetes mellitus--a case report. 949 96