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ABETALIPOPROTEINEMIA TREATED WITH PARENTERAL AND ORAL VITAMINS A AND E, AND WITH MEDIUM CHAIN TRIGLYCERIDES 总被引:1,自引:0,他引:1
EYOB AZIZI JACOB L. ZAIDMAN JERACHMIEL ESHCHAR ARYEH SZEINBERG 《Acta paediatrica (Oslo, Norway : 1992)》1978,67(6):797-801
ABSTRACT. An 11-year-old girl with abetalipoproteinemia was treated with parenteral vitamin A and vitamin E for two and a half years. Some improvement in neurological and visual deficits was noted. On changing to oral vitamin E and later with addition of medium chain triglycerides (MCT) to the diet, a considerable improvement in her general wellbeing, neuromuscular lesions and ophthalmological symptoms was noted. This regimen is being adhered to for five and a half years. The condition is stable with no further improvement. 相似文献
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J. LAUFER A. AUGARTEN A. SZEINBERG J. RAPOPORT D. KATZENELSON & Y. YAHAV 《Journal of internal medicine》1997,242(1):83-86
Laufer J, Augarten A, Szeinberg A, Rapoport J, Katzenelson D, Yahav Y (The Chaim Sheba Medical Center, Tel Hashomer, Affiliated to the Sackler School of Medicine, Tel Aviv, Israel). Nephrotic syndrome and fibrillary glomerulonephritis (Case Report). J Intern Med 1997; 242 : 83–6.
A 28-year-old female with cystic fibrosis presented with nephrotic syndrome and progressive renal failure. In addition, she complained of blurred vision and there was a purpuric skin eruption localized to her legs. A renal biopsy revealed fibrillary glomerulonephritis. Skin biopsy demonstrated swelling of capillary endothelium, thickening of arteriolar walls and deposition of IgA, C3 and fibrinogen by immunofluorescence. Opthalmoscopy and fluorescein angiography disclosed cotton wool spots with intraretinal haemorrhages and ischaemia of the macula. Albumin infusions resulted in worsening of eye symptoms and signs. The presence of these three clinicopathologic entities in a patient with CF may indicate the possibility of systemic involvement related to continued exposure to chronic bacterial lower lung infection. 相似文献
A 28-year-old female with cystic fibrosis presented with nephrotic syndrome and progressive renal failure. In addition, she complained of blurred vision and there was a purpuric skin eruption localized to her legs. A renal biopsy revealed fibrillary glomerulonephritis. Skin biopsy demonstrated swelling of capillary endothelium, thickening of arteriolar walls and deposition of IgA, C3 and fibrinogen by immunofluorescence. Opthalmoscopy and fluorescein angiography disclosed cotton wool spots with intraretinal haemorrhages and ischaemia of the macula. Albumin infusions resulted in worsening of eye symptoms and signs. The presence of these three clinicopathologic entities in a patient with CF may indicate the possibility of systemic involvement related to continued exposure to chronic bacterial lower lung infection. 相似文献
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NORMAN S. MILLER M.D. MARK S. GOLD M.D. BETH M. BELKIN M.D. Ph.D. ARYEH L. KLAHR M.D. 《Addiction (Abingdon, England)》1989,84(12):1491-1498
Genetic research in alcoholism has made major advances in recent decades. Twin, adoption, high-risk and familial studies have demonstrated an inheritance factor in alcoholism. Few studies have demonstrated a genetic predisposition to cocaine and cannabis dependence. Two hundred and sixty-three inpatients were given a structured psychiatric interview retrospectively (180) and prospectively (113) to obtain DSM-III-R diagnosis of cocaine, alcohol and cannabis dependence disorders in the inpatients and of alcohol dependence in family members. Our study reveals a large number of cocaine dependents with a positive family history for alcohol dependence. Approximately 50% of cocaine addicts had at least a first or second degree relative with a diagnosis of alcohol dependence when studied by the family history and study methods. As many as 89% of cocaine dependents diagnosed by DSM-III-R criteria for cocaine dependence qualified for other alcohol and drug dependence diagnoses. Our study finds a high prevalence of alcohol (67% and 89%) and cannabis dependence (51% and 46%) in patients with cocaine dependence. Previous reports regarding alcohol and other drug dependence among cocaine dependents and their families are few and inconclusive. The diagnosis of other drug and alcohol dependence in cocaine dependence and in family members of cocaine dependents has important impact on etiology, prognosis and treatment. 相似文献
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Selective occurrence of glutathione instability in red blood corpuscles of the various Jewish tribes 总被引:8,自引:0,他引:8
1. Experience with GSH stability test performed on blood samples to whichglucose has been added is summarized and the procedure is recommendedfor routine use for the detection of sensitive subjects.2. Glutathione stability of erythrocytes has been studied in various population groups of Israel. No case with instable GSH has been found among Jewishsubjects originating from Eastern, Central or Western Europe. Instabilityof GSH was however found in about 20 per cent of subjects originating fromIraq and about 5 per cent of subjects originating from Yemen or North Africa.Isolated cases of this abnormality were also discovered among a small numberof persons from other Oriental or Mediterranean countries as well as amongthe Arab inhabitants of Israel.3. The genetic analysis points to a transmission of glutathione instabilityby a sex-linked, incompletely dominant gene with variable expressivity.4. Variable expressivity of glucose-6-phosphate dehydrogenase activity hasalso been detected in the defective erythrocytes. Submitted on December 5, 1957 Accepted on April 12, 1958 相似文献
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