1/88. Through a shade darkly.A 43-year-old man complained of difficulty seeing in dim light (nyctalopia). A prolonged photostress test and abnormal electroretinogram confirmed retinal rather than optic nerve dysfunction. vitamin a deficiency secondary to remote ileal-jejunal bypass was diagnosed, and his visual symptoms and signs reversed with oral vitamin A supplementation.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/88. vitamin a deficiency phrynoderma: due to malabsorption and inadequate diet.We describe a patient with vitamin a deficiency phrynoderma caused by a combination of inadequate dietary intake of vitamin A and beta-carotene and malabsorption secondary to primary visceral myopathy and total colectomy.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
3/88. Approaching the patient with chronic malabsorption syndrome.The causes of chronic malabsorption may be categorized as decreased intestinal absorption, most commonly caused by celiac sprue; or maldigestion caused by pancreatic insufficiency. The initial step in the evaluation of these patients should include stool studies to confirm fat malabsorption. If fat malabsorption is confirmed, endoscopy with small-bowel biopsies and aspirates for bacterial culture usually follows. A normal endoscopic examination should lead to assessment of pancreatic function. In the setting of normal pancreatic function and the absence of bile acid deficiency, a barium radiograph of the small bowel should be made, looking for anatomical abnormalities. Celiac sprue is an intolerance to gluten caused by a combination of genetic, environmental, and immunologic factors. It classically causes malabsorption. However, it is likely that many patients who exhibit only minor manifestations of the disease go unrecognized and untreated. A presumed diagnosis of celiac sprue is confirmed after a clinical and endoscopic response to a gluten-free diet. Serological markers are available with high degrees of sensitivity and specificity, but duodenal biopsy remains the gold standard for diagnosis. A minority of patients are unresponsive to a gluten-free diet, and intestinal lymphoma should be suspected in these cases.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
4/88. ceroid enteropathy and vitamin e deficiency.ceroid (polymerised peroxidised polyunsaturated fatty acids) deposition in the intestine is a result of chronic malabsorption and vitamin e deficiency. This gives the bowel a striking brown colour. Three patients are described with this condition. The macroscopic and microscopic appearances were similar, but the cause of the malabsorption differed. In one patient with polyarteritis there was regression of the pigments with improvement of the malabsorption after treatment with prednisone.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
5/88. Attempts to define the minimal serum level of vitamin A required for normal visual function in a patient with severe fat malabsorption.A case with severe malabsorption of fat soluble vitamins is described. The malabsorption developed after an intestinal bypass operation due to morbid obesity. night blindness occurred as the first symptom of vitamin a deficiency. The cone visual sensory threshold was elevated about one log unit and the rod threshold abot two and a half log units. No changes of the a- and b-waves of the electroretinogram (ERG) was observed. However, during the initial phase of very low serum reninol level (0.21 mumol/l) the summed amplitudes of the oscillatory potentials (OPs) were lower. After parenteral therapy with vitamin A the night blindness disappeared and the dark-adapted rod and cone threshold sensitivity recovered to normal. However, the time-course of rod adaptation first reached normal levels after 5 months. The amplitudes of the OPs of the ERG response returned to normal when the serum retinol level had increased close to normal. serum retinol levels of 0.7 mumol/l or higher were always associated with normal or close to normal dark-adapted rod sensitivity. However, a normal serum retinol level (> 0.95 mumol/l) and a normal dark-adapted rod threshold sensitivity were not always associated with a normal time-course of the rod adaptation. It is concluded, that the maintenance dosage of vitamin A must be individualized and that patients who have undergone jejuno-ilea bypass surgery must be carefully monitored for vitamin a deficiency by both serum levels and dark adaptation measurements.- - - - - - - - - - ranking = 2keywords = deficiency (Clic here for more details about this article) |
6/88. rickets as an unusual initial presentation of abetalipoproteinemia and hypobetalipoproteinemia.OBJECTIVE: Description of rickets as an unexpected initial manifestation in two children with abetalipoproteinemia and hypobetalipoproteinemia, and elucidation of its pathophysiology in these conditions. METHODOLOGY: Two infants aged two and six months with abetalipoproteinemia and hypobetalipoproteinemia respectively had clinical rickets at presentation, confirmed radiologically and biochemically. Vitamin D intake and serum levels were measured and other causes of rickets were looked for. RESULTS: Vitamin D intake and laboratory studies levels were suggestive of rickets due to calcium deficiency instead of vitamin d deficiency. Healing of rickets occurred with dietary treatment of the malabsorption, without any dietary calcium or significant vitamin D supplementation. CONCLUSION: steatorrhea-induced calcium malabsorption seems to be the most likely cause of rickets in this entity.- - - - - - - - - - ranking = 2keywords = deficiency (Clic here for more details about this article) |
7/88. Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin k deficiency.BACKGROUND: 2-Methylacyl-CoA racemase interconverts the 2-methyl group of pristanoyl-CoA or the 25-methyl group of hydroxylated cholestanoyl-CoAs, allowing further peroxisomal desaturation of these compounds in man by the branched chain acyl-coa oxidase, which recognise only the S-isomers. Hence, oxidation studies in fibroblasts, currently based on the use of racemic substrates such as [1-14C] pristanic acid, do not allow us to distinguish between a deficient racemase or an impaired oxidase. DESIGN: To evaluate the racemase activity directly, the 2R-isomer of[1-14C] pristanic acid, as well as the 2R-isomer of 2-methyl-[1-14C] hexadecanoic, a synthetic pristanic acid substitute, were prepared and their degradation by cultured human skin fibroblasts was compared to that of the racemic substrates. RESULTS: In fibroblasts in a young girl, presenting with elevated urinary levels of trihydroxycholestanoic acid metabolites but normal plasma levels of very long chain fatty acids, a partial deficient degradation of racemic [1-14C] pristanic acid was observed. Incorporation of 2R-[1-14C] pristanic acid in glycerolipids of the patient's fibroblasts proceeded normally, but breakdown was impaired. Similar findings were seen with the 2R-isomer of 2-methyl-[1-14C] hexadecanoic. These data, combined with the fact that the branched chain acyl-coa oxidase, catalyzing the first oxidation step of pristanic acid and bile acid intermediates in man, appeared normal, suggested a peroxisomal beta-oxidation defect in the patient at the level of 2-methylacyl-CoA racemase. CONCLUSION: Carboxy-labelled 2R-methyl branched chain fatty acids might be useful tools to document cases of racemase deficiencies. Because a brother of the patient died with a diagnosis of vitamin k deficiency, an impaired racemase might be responsible for other cases of unexplicable malabsorption.- - - - - - - - - - ranking = 13keywords = deficiency (Clic here for more details about this article) |
8/88. Gastrointestinal dysfunction in immunoglobulin deficiency. Effect of corticosteroids and tetracycline.Idiopathic late-onset immunoglobulin deficiency in a young man was associated with achlorhydria and a severe intestinal malabsorption syndrome that did not respond to conventional therapy. Combined therapy with high doses of prednisone and tetracycline hydrochloride resulted in weight gain, cessation of diarrhea, improved absorption of water, fat, and vitamin B12, and production of gastric acid after stimulation with histamine. serum immunoglobulin levels, however, did not increase.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
9/88. Fulminant heart failure due to selenium deficiency cardiomyopathy (Keshan disease).selenium deficiency is a rare cause of cardiomyopathy that may be encountered by the forensic pathologist. selenium deficiency is associated with a cardiomyopathy, myopathy and osteoarthropathy. In asia and africa, dietary selenium deficiency is associated with a cardiomyopathy known as Keshan disease and an osteoarthropathy called kashin-beck disease. Chronic selenium deficiency may also occur in individuals with malabsorption and long term selenium-deficient parenteral nutrition. selenium deficiency causes myopathy as a result of the depletion of selenium-associated enzymes which protect cell membranes from damage by free radicals. We present a case of fulminant heart failure in a middle aged woman with a complex medical and surgical history including documented malabsorption and selenium deficiency. Pathological examination of the heart showed features consistent with Keshan disease.- - - - - - - - - - ranking = 10keywords = deficiency (Clic here for more details about this article) |
10/88. Deficiency of secretory Ig-A and intestinal malabsorption.A patient under treatment with hemodialysis suffered increasing clinical and laboratory evidence of intestinal malabsorption. Jejunal aspirates revealed heavy bacterial and mycotic flora within the proximal jejunum. Secretory Ig-A and secretory component were present only in trace amounts. The deficiency of the generally ubiquitous secretory component is particularaly striking. Oral administration of 20-30 ml. colostrum daily reversed not only the clinical evidence but also laboratory findings of intestinal malabsorption.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
| | Next -> |