Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2 5/12-year-old Chinese boy was investigated for refractory seizures and psychomotor regression. His birth history was unremarkable. Generalized seizures occurred at 2 weeks of age with hypocalcemia. They recurred at 7 months of age and have become aggravated since. During hospitalization, in addition to hypocalcemia and hypomagnesemia, he was found to have hypoparathyroidism, cardiomyopathy, and brain atrophy. Excessive renal loss of magnesium, general intestinal malabsorption, or inadequate dietary intake of magnesium were excluded. He was successfully treated with oral supplements of 19-25 mmole/day of magnesium. Over a few months, he made a dramatic progress in development. His hypoparathyroidism and cardiomyopathy gradually resolved. However, intermittent seizures and psychomotor retardation persisted up to his present age of 6 3/12 years. At 4 months of age his younger sister also developed seizures and was found to have isolated hypomagnesemia. This was corrected by oral magnesium and followed by resolution of the seizure. She has developed normally up to her present age of 1 10/12 years. Both patients are currently maintained on oral magnesium oxide.
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PMID:Familial primary hypomagnesemia complicated with brain atrophy and cardiomyopathy. 929 31

Clinical investigation of the small bowel at The Mount Sinai Hospital began with David Adlersberg's arrival in 1931. His research interests were in bile acids, cholesterol, carotene, and vitamin A. In 1952, he was given a Nutrition Laboratory and later, a Nutrition Clinic. His vitamin A tolerance test and interest in malabsorption led him to a comprehensive study of sprue, the separation of the tropical and non-tropical forms, and their different etiologies and treatments. Adlersberg's work was complemented by (a) Marshak and Wolf's radiologic examination of the small bowel (especially in sprue and other malabsorption disorders); (b) Gerson s perfusion experiments; and (c) Friedman, Waye and Wolf's motility studies. Lieber and his colleagues explored the deleterious effects of alcohol on the function and structure of the small intestine. Gerson explored the nutrition of patients with Crohn's disease of the small intestine, especially after extensive resection or bypass leading to ascorbic and folic acid deficiencies and hypergastrinemia.
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PMID:The small intestine. 1082 9

Hypovitaminosis A is a well-recognized condition in many developing countries. However, in the developed world the diagnosis is frequently missed or delayed because of its rarity. A 67-year-old man from metropolitan Adelaide presented to us with gradual but severe bilateral visual loss. He had marked punctate epithelial keratopathy in both eyes. Hypovitaminosis was suspected because of his bizarre dietary habit, and this was confirmed by a combination of impression cytology of the ocular surface and biochemical testing of his venous blood. His vision responded dramatically to vitamin A supplementation. Hypovitaminosis A should be suspected in severe cases of 'dry-eye', especially in those patients with unusual dietary habit or malabsorption.
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PMID:Hypovitaminosis A in metropolitan Adelaide. 1134 50

A 49-year-old man presented with neurosis, hyperpigmentation of the skin, and depigmentation of the hair. On examination, hyperpigmentation was observed on the oral mucosa and the skin of the forearms, elbows, palmar creases and periunguinal area, knees, and feet. He had megaloblastic anemia with a low serum level of vitamin B12 due to malabsorption resulting from a gastrectomy 10 years previously. His hyperpigmentation was resolved with vitamin B12 supplementation. Histology showed an increase of melanin in the basal layer. In electron microscopic study, many melanosomes were observed in melanocytes and surrounding keratinocytes. We consider that the dominant mechanism of hyperpigmentation due to vitamin B12 deficiency is not a defect in melanin transport but is rather an increase in melanin synthesis.
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PMID:Generalized hyperpigmentation of the skin due to vitamin B12 deficiency. 1143 69

Whipple disease is a rare infectious disorder with multiorgan manifestations and a widely varied clinical presentation. Involvement of the small intestine with resultant malabsorption is a classic finding, although extraintestinal manifestations such as fever and arthralgias may precede gastrointestinal symptoms by many years. We describe a 63-year-old man in whom Whipple disease was diagnosed 22 years after his initial presentation (36 years after symptom onset) with lymphadenopathy, when a biopsy yielded nonnecrotizing granulomas. His recent symptoms included persistent fatigue, weight loss, fever, and arthralgias. Endoscopic biopsy specimens from the distal duodenum showed features consistent with Whipple disease, and Tropheryma whippelii DNA was detected in both the small bowel biopsy specimen and the blood specimen by polymerase chain reaction and DNA probe hybridization. His symptoms resolved with long-term co-trimoxazole therapy. We discuss the protean manifestations of Whipple disease, the difficulties in clinical diagnosis, and the recent advances in the molecular diagnosis of this disorder.
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PMID:Successful treatment of Whipple disease diagnosed 36 years after symptom onset. 1160 93

We report a 43-year-old Japanese man with hypobetalipoproteinemia likely due to apolipoprotein (apo) B-76, a new truncation of apo B, and with homozygosity for the apo E2 isoform. He had no history suggestive of fat malabsorption and no sign of neurological disorder. His fasting baseline serum low-density lipoprotein (LDL) cholesterol and apo B levels were approximately half of normal. His plasma apo E level was elevated and its phenotype showed the E2/E2 homozygote. SDS-polyacrylamide gel electrophoresis of delipidated LDL fraction revealed a new truncated apo B, designated as apo B-76 according to the centile system of nomenclature. The postprandial lipid metabolism of the patient showed an almost normal response after fat loading.
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PMID:Clinical characterization of a case with familial hypobetalipoproteinemia caused by apo B-76, a new truncation of apolipoprotein B, combined with apo E2/E2 phenotype. 1168 25

Gastrocolic fistula is a rare clinical disorder which in the past most often occurred after gastric surgery or carcinoma of the gastrointestinal tract. However, during the last decade an increasing number of cases after benign gastric ulcers have been described. Most common symptoms have been weight loss, abdominal pain, diarrhea and copremesis. A 49-year-old cachectic patient presented with a 2-year history of abdominal discomfort and diarrhea. He reported a weight loss of 32 kg during this period and was finally unable to move because of exhaustion. Furthermore, he suffered of burning paresthesia of the legs and the abdomen. His medical history included a Billroth II operation because of recurrent ulcer disease in 1987. Barium enema revealed a gastrocolic fistula which caused small bowel bacterial overgrowth with villous atrophy and malabsorption and development of polyneuropathy. The fistula was surgically resected, and postoperatively, the patient improved and regained his weight. Gastrocolic fistula is a rare cause of diarrhea and should be considered in clinical practice. Barium enema is superior to endoscopy in detecting gastrocolic fistula.
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PMID:[Gastrocolic fistula - a rare cause of cachexia and polyneuropathy]. 1212 1

Zinc has been recognized as an antioxidant with potential for chronic and acute effects. Oxidative damage produced by free radicals, including nitric oxide (NO), is responsible for certain types of intestinal malabsorption syndromes and diarrhea. Under physiologic or mildly stimulatory conditions for NO synthesis, the small intestine characteristically is in a proabsorptive state; however, an excessive production of NO triggers formation of cyclic nucleotides, which cause secretion and malabsorption. In this study, we hypothesized that low-molecular-weight, soluble zinc chelates could modulate the effects of induced NO excess on the small intestine. In vitro experiments demonstrated that zinc-citrate or zinc-histidine at > or =0.66 mM, as well as a known NO scavenger, 2-[carboxyphenyl]-4,4,4,4-tetramethylimidazoline-1-oxyl-3-oxide, at 2 microM, were effective at removing chemically generated NO. In vivo jejunal perfusions, conducted in healthy rats under anesthesia, showed that c-PTIO reduced the proabsorptive effects produced by 1 mM L-arginine, the precursor of NO. In a standard oral rehydration solution, 1 mM zinc-citrate partially reversed the antiabsorptive effects on potassium caused by an excess of NO generated from 20 mM L-arginine but did not alter sodium or water absorption. The data are consistent with the view that soluble zinc compounds incorporated into an oral rehydration solution may deserve further attention as a means to scavenge NO with fluids used for the treatment of chronic or acute diarrhea, especially in malnourished children who are often zinc deficient.
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PMID:Zinc as a potential enteroprotector in oral rehydration solutions: its role in nitric oxide metabolism. 1259 91

Using slight modifications to the method of Kohn, Mollin, and Rosenbach (1961) the histidine loading test has been carried out in 210 pregnant women. Seventy per cent. of the cases showed complete haematological correlation and this rose to 87% when marrow puncture was performed. False positive results occurred in some cases showing active erythropoiesis in response to iron therapy. False negative results were noted when other complications in addition to anaemia were present, and it was felt that these might interfere with the metabolism of histidine. In some cases the histidine test anticipated the haematological change.Seventy-seven per cent. of women with multiple pregnancies showed evidence of folic acid deficiency. Only in a few cases was the test positive before the 25th week of pregnancy. These were either cases of multiple pregnancy, haemolytic anaemia, malabsorption syndrome, or women with a recent history of megaloblastic anaemia of pregnancy. The test appears to confirm the significance of white cell changes as an indication of folic acid deficiency in pregnancy.
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PMID:PRACTICAL EVALUATION OF THE FIGLU TEST IN PREGNANCY WITH SPECIAL REFERENCE TO THE WHITE CELL CHANGES. 1430 45

Our objective was to measure maternal plasma and amniotic fluid amino acid concentrations in pregnant women diagnosed as having fetuses with gastroschisis in the second trimester of pregnancy. Twenty-one pregnant women who had fetuses with gastroschisis detected by ultrasonography (gastroschisis group) in the second trimester and 32 women who had abnormal triple screenings indicating an increased risk for Down syndrome but had healthy fetuses (control group) were enrolled in the study. Amniotic fluid was obtained by amniocentesis, and maternal plasma samples were taken simultaneously. The chromosomal analysis of the study and control groups was normal. Levels of free amino acids and non-essential amino acids were measured in plasma and amniotic fluid samples using EZ:fast kits (EZ:fast GC/FID free (physiological) amino acid kit) by gas chromatography (Focus GC AI 3000 Thermo Finnigan analyzer). The mean levels of essential amino acids (histidine, isoleucine, leucine, lysine, methionine, phenylalanine, threonine, tryptophan, and valine) and non-essential amino acids (alanine, glycine, proline, and tyrosine) in amniotic fluid were found to be significantly higher in fetuses with gastroschisis than in the control group (P < 0.05). A significant positive correlation between maternal plasma and amniotic fluid concentrations of essential and nonessential amino acids was found only in the gastroschisis group (P < 0.05). The detection of significantly higher amino acid concentrations in the amniotic fluid of fetuses with a gastroschisis defect than in healthy fetuses suggests the occurrence of amino acid malabsorption or of amino acid leakage from the fetus into amniotic fluid.
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PMID:Elevated amniotic fluid amino acid levels in fetuses with gastroschisis. 1690 76


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