Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0231807 (exertional dyspnea)
 3,402 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Infants with gastroschisis experience delayed intestinal motility and absorption for several weeks after birth. This intestinal dysfunction is believed to occur primarily in the third trimester and to be largely caused by the prolonged exposure of the intestine to amniotic fluid. Previous studies have shown that prenatal steroid administration will enhance mucosal disaccharidase activity and nutrient uptake. The present study evaluates the effects of dexamethasone on intestinal function in a rabbit fetal gastroschisis model. Thirty-four fetuses from 10 New Zealand white rabbits were divided into three groups: (1) gastroschisis group (GSC, n = 10), gastroschisis was created on gestational day (GD) 24 (term = 31 to 33 days); (2) dexamethasone group (GSD, n = 10), after the creation of gastroschisis, a small osmotic pump was placed into the rabbit doe for dexamethasone infusion into the fetal amniotic cavity for 7 days (0.2 microgram/g/d); (3) normal group (NF, n = 10), unoperated littermates from the GSC group. There were no maternal deaths, and fetal survival rate was 85%. The fetal small intestinal disaccharidase enzyme, lactase (UE/g protein), was markedly decreased in GSC fetuses. It was increased 70% in the GSD group but lower than in normal fetuses (GSC = 10.0 +/- 1.6; GSD = 17.3 +/- 1.6 [GSD versus GSC, P < .05]; NF = 48.0 +/- 6.7). Maltase activity in the GSD group was significantly increased (GSC = 7.2 +/- 1.1; GSD = 13.9 +/- 1.8 [GSD versus GSC, P < .05]; NF = 12.2 +/- 1.3).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Effect of intraamniotic dexamethasone administration on intestinal absorption in a rabbit gastroschisis model. 747 58

Glycogen storage disease type III (GSD III) is a very rare disorder caused by a deficiency in the activities of glycogen debranching enzymes (amylo-1-6-glucosidase and 4-alpha-glucanotransferase). GSD III is characterized by the accumulation of abnormal glycogen in the liver and skeletal muscle. The primary clinical manifestations are hepatomegaly, fasting hypoglycemia, and hyperlipidemia in infants. We report a rare case of GSD III in an adult. A 52-year-old woman presented to our clinic due to dyspnea on exertion, severe general weakness, and hepatomegaly. Hypertrophic cardiomyopathy was diagnosed based on echocardiogram findings. The microscopic findings of liver and skeletal muscle biopsies were consistent with the diagnosis of GSD. DNA analysis prompted by clinical and pathologic findings led to a definitive diagnosis of GSD IIIa. Diet therapy with cornstarch was started, and the patient was followed closely. This represents the first reported case of GSD IIIa diagnosed in an adult in Korea.
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PMID:An adult case of glycogen storage disease type IIIa. 1861 70