Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fourteen women with severe obesity resistant to previous dietetic measures underwent intestinal bypass using Scott's method. Weight loss ranged from 1-2 kg to 50 kg (mean = 25 kg) but weas unpredictable and varied from patient to patient; most remained obese. The other results of the operation were similar to those already reported. There was a decrease in total plasma cholesterol, while HDL cholesterol remained normal. Calcaemia was in the lower range of normal values; one patient developed severe hypokaliaemia (1.8 mEq); low blood magnesium levels and steatorrhoea were common. Fibrosis of the liver was observed in one patient and probably in another. Five patients were re-operated upon for incisional hernia or intestinal occlusion. Other complications reported in the literature (pulmonary embolism, arthralgias, kidney stones and gall stones) did not occur in this series. Because of these complications we decided to stop using intestinal bypass for the treatment of severe obesity. However, in view of the potential dangers of severe obesity we feel that other surgical techniques, such as Mason's gastric bypass, should be considered in some patients.
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PMID:[Intestinal bypass in the treatment of obesity. Results of 14 cases (author's transl)]. 706 89

Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features. Muscle hypertrophy caused by lack of adipose tissue is present early in life in CGL patients. Our aim was to investigate 10 CGL patients from 7 different countries and report genotype-phenotype relationships. Genetic analysis identified disease-causing variants in AGPAT2 (five patients) and in BSCL2 (five patients), including three novel variants; c.134C>A (p.Ser45*), c.216C>G (p.Tyr72*) in AGPAT2 and c.458C>A (p.Ser153*) in BSCL2. We also report possible novel clinical features such as anemia, breast enlargement, steatorrhea, intraventricular hemorrhage and nephrolithiasis in CGL patients. Generalized lipodystrophy and muscular hypertrophy were the only features in all of our patients. Hepatomegaly was the second common feature. Some manifestations were exclusively noticed in our CGL2 patients; hypertrichosis, high-pitched voice and umbilical hernia. Bone cysts and history of seizures were noticed only in CGL1 patients. The findings of this study expand our knowledge of genotype-phenotype correlations in CGL patients. These results have important clinical applications in diagnosis and management of the CGL patients as well as in genetic counseling in families at-risk.
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PMID:Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. 2607 26