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Results 401 - 450 of 475
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Hiramatsu M - - 1984
The case of a 3 year-old boy with congenital nephrotic syndrome is reported, in whom decreased LCAT activity and hypothyroidism were also present. Renal biopsy confirmed a diffuse proliferative glomerulonephritis with a large number of foam cells in the capillary lumen of the glomerulus and the interstitium, which stained positively ...
Asanuma K - - 1984
This paper concerns with two autopsied cases of siblings who died from cerebral disturbances. In these patients hyperammonemia developed in the neonatal phase due to carbamyl phosphate synthetase I (CPS I) deficiency. The patient in Case 1 was admitted 2 days after birth because of oliguria and vomiting. Hyperammonemia developed ...
Eichner E R - - 1984
The full hematologic profile of spider bite hemolytic anemia has not been documented in the literature. The two patients had brisk intravascular hemolysis with direct Coombs' tests positive for complement and with peripheral blood smears showing spherocytosis, erythrophagocytosis, and leukoerythroblastosis. The author's experience, along with that in the literature reviewed ...
Krause J R - - 1984
Aplastic anemia and hairy cell leukemia (HCL) characteristically present with a pancytopenia, and several reports have described HCL as mimicking aplastic anemia. Usually the bone marrow core biopsy will easily differentiate these entities, as aplastic anemia is hypocellular, and HCL has a mononuclear cellular infiltrate with increased reticulin. In the ...
Pasquali J L - - 1984
This report deals with the first case of acquired functional C1(-) INH deficiency with normal antigenic C1(-) INH level which was detected in a young girl with angioedema and Churg and Strauss vasculitis. This complement abnormality was associated with slightly depressed levels of CH50, C4 and C2, but a normal ...
Rousson R - - 1984
The French experience in the long term follow-up of 105 cases of organic aciduria (45 maple syrup urine disease, 12 isovaleric acidaemia, 19 propionic acidaemia, 24 methylmalonic aciduria and some rare allied disorders) is reported. Main conclusions drawn from this survey are the poor overall prognosis and the slow improvement ...
Alavi J B - - 1983
A patient is presented who developed aplastic anemia 3 months after exposure to intravenous chloramphenicol. She died of this disease 4 years later. Other cases of marrow aplasia due to parenteral chloramphenicol are reviewed, in order to emphasize that this complication, although rare, is not restricted to the use of ...
Eastman J R - - 1983
The first documented case of inherited factor X deficiency in the dental literature is presented. Its ascertainment as a result of postoperative surgical complications illustrates the clinician's need to be familiar with the hereditary bleeding diatheses, as treatment is dependent on the underlying etiology of the specific disorder. In the ...
Witten F R - - 1983
Urolithiasis resulting from inherited metabolic derangement is rare. Only 13 cases of 2,8-dihydroxyadenine stones resulting from a deficiency of the enzyme adenine phosphoribosyl transferase have been reported since 1974. Of these cases 9 have been in children with the homozygous trait. To date, 3 homozygous and 1 heterozygous adults with ...
Nel A E - - 1983
A case of primary acquired hypogammaglobulinaemia complicated by the unusual combination of antibody-mediated haemolysis and pernicious anaemia is described. The natural history, laboratory results and treatment are discussed. An initial partial response to steroids was followed by relapse. Immunosuppression and plasmapheresis failed to affect the haemolysis.
Iwamasa T - - 1983
Ten cases of myopathy caused by glycogen storage diseases of type II, III, and V, and phosphorylase b kinase deficiency are reported. So-called "abnormal lysosomes" or glycogenosomes which contain abundant glycogen were found in cases of type II, and in some numbers, in cases of type III, and in one ...
Juneja S K - - 1983
In order to determine the prevalence and percentage distribution of ringed sideroblasts in primary myelodysplastic syndromes, the results of Prussian blue staining were analysed in 133 cases. Ringed sideroblasts ranging from 1 to 86% of cells were found in 76 (57%) cases. The cases of primary myelodysplastic syndrome corresponding to ...
Traupe H - - 1983
When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 ...
Pelkonen P - - 1983
Twenty-five children with serum IgA levels of less than 0.1 g/l (below the 2.5% confidence limit at 2 years of age) were found among approximately 350 cases of juvenile rheumatoid arthritis (JRA). During follow-up, 10 of them proved to have persistent IgA deficiency, 13 were classified as having transient IgA ...
Shojania A M - - 1983
Two new cases of hereditary lecithin-cholesterol acyltransferase (LCAT) deficiency in a brother and sister born to consanguinous parents are reported. Both have corneal opacity, splenomegaly and mild hemolytic anemia. The brother, the older of the 2, also has significant proteinuria. The literature dealing with reported cases of hereditary LCAT deficiency ...
Zauber N P - - 1982
Microangiopathic hemolytic anemia was found in a 67 year old woman with biopsy-proven giant cell arteritis. The patient's symptoms, as well as the hemolytic process, were suppressed by high-dose steroid therapy on several occasions. The presence of microangiopathic hemolytic anemia is consistent with the concept that erythrocyte fragmentation resulted from ...
Hesdorffer C S - - 1982
A case of iron deficiency anaemia and eosinophilia in a 19-year-old man is presented. An eosinophilic infiltrate was found in the mucosa of the gastro-intestinal tract and schistosomiasis of the rectum and sigmoid colon was demonstrated; it is postulated that this triggered off the immunological stimulus necessary in the development ...
Fraunfelder F T - - 1982
A 73-year-old woman died of aplastic anemia less than two months after undergoing cataract extraction and beginning topical therapy with chloramphenicol. The first signs of pancytopenia began within one month of the surgery. The pattern of the aplastic anemia was associated with an idiosyncratic response to chloramphenicol. This was the ...
Hamel B C - - 1982
Sideroblastic Anaemias are characterised by a) chronic hypochromic anemia, b) ringed sideroblasts in the bone marrow, c) an increase in total body iron, d) ineffective erythropoiesis and e) often abnormal concentrations of F.E.P. A classification of Sideroblastic Anaemia is given and the pathophysiology of Sideroblastic Anaemia is discussed. A series ...
Blum P M - - 1982
Patients with selective IgA deficiency, the most common primary immunodeficiency, occasionally may undergo spontaneous recovery. In this paper we present three additional children whose IgA levels spontaneously returned to normal. All three presented with gastrointestinal symptoms, and one child also had frequent upper respiratory infections. We review other cases of ...
Kornberg A - - 1982
Two rare cases of aplastic anemia after prolonged ingestion of indomethacin are described. One patient recovered spontaneously within several weeks following discontinuation of the drug while the second one died. The aplastic anemia may be related to the inhibitory effect of indomethacin on prostaglandins and cyclic nucleotides which have a ...
White W B - - 1981
A 69-year-old man complaining of syncope was found to have pernicious anemia and orthostatic hypotension due to autonomic neuropathy. Following vitamin B12 replacement with cyanocobalamin, the blood pressure became normal. To our knowledge, this is the first reported case of neurogenic orthostatic hypotension as the initial feature of vitamin B12 ...
McClain C J - - 1981
Trace metal deficiencies are now a well-documented complication of total parenteral nutrition (TPN). Zinc deficiency may present in a variety of ways including acrodermatitis skin lesions, impaired immunity, poor growth or impaired wound healing, and mental disturbances. Copper deficiency presents a more uniform picture of hematologic abnormalities, usually anemia with ...
Evans O B - - 1981
A partial deficiency of pyruvate decarboxylase (PDC) was demonstrated in a child with hyperlactatemia and progressive ataxia, bulbar paresis, ophthalmoplegia, and polyneuropathy. Subacute necrotizing encephalomyelopathy (SNE) was found at necropsy. The association of SNE and PDC deficiency has been reported rarely, but a review of the diverse metabolic defects associated ...
Payne D - - 1981
A case of autoimmune hemolytic anemia (AIHA) associated with an ovarian dermoid cyst is presented. Early recognition and specific therapy for this entity is stressed for optimal results since conventional forms of therapy of AIHA are ineffectual. Unusual features of the case are discussed. The literature is reviewed and possible ...
Tennant B - - 1981
From June 1975 through June 1979, acute hemolytic anemia developed in 11 horses from 7 New York farms. Of the 7 horses that died, 6 had methemoglobinemia. In the 4 horses that recovered, methemoglobinemia was not observed. but Heinz body formation was seen in 3 of the 4. On 2 ...
Pronicka E - - 1981
A clinical description of three cases of beta-galactosidase deficiency is presented. Two cases are classical for infant type GM1-gangliosidosis, the third is characterised by dysostosis multiplex with growth retardation and of normal intelligence. Laboratory data revealed mucopolysaccharides in the urine of all described patients in a high level of normal ...
Walters B N - - 1981
Benign intracranial hypertension occurred in four young women taking tetracycline for acne; two were also taking vitamin A. In a fifth case a 14-year-old boy developed papilloedema after taking a short course of tetracycline for bronchitis. All symptoms disappeared soon after stopping the drugs, though in two cases the papilloedema ...
Beck M L - - 1981
Allozymic variation for the terrestrial isopod, A. vulgare, is low when compared to that reported for most invertebrates, with the average individual being heterozygous at 3.4 percent of its loci. However, this level of heterozygosity is comparable to that reported in various decapods. A significant heterozygote deficiency occurred in local ...
Pearce V R - - 1980
All barium meal examinations performed, in patients aged greater than 65 years, in one year in one Health District are reviewed. There were 39 cases of duodenal diverticula. One case of osteomalacia and folate deficiency was discovered and this patient had evidence of small bowel bacterial overgrowth. In the remaining ...
Tsvetkova I V - - 1980
A case of mannosidosis with high residual activity of fibroblast acid mannosidase is described. The mutant enzyme was thermostable and has an almost normal Km value. The patient had mild clinical manifestations, but excretion of mannose-rich oligosaccharides was very high. This case of mannosidosis is compared with those reported in ...
Mazza J J - - 1980
The tetracyclines are a group of widely used antibiotics that have been incriminated in causing adverse hematologic problems, including hemolytic anemia. This paper presents the third documented case of acquired hemolytic anemia and the first case of nonimmune-mediated hemolysis resulting from tetracycline hydrochloride. A review of the literature reveals the ...
Werblin T P - - 1980
Carbonic anhydrase inhibitors used in the treatment of glaucoma are rarely associated with blood dyscrasias. Several case reports of aplastic anemia with use of acetazolamide, and two cases with use of methazolamide, have appeared in the literature. This report documents two cases of aplastic anemia, at least one of which ...
Leibowitz M - - 1980
Keratotic scabies (KS) (Norwegian scabies) is a rare variant of Sarcoptes scabeii infestation and is characterized by hyperkeratosis and crusting and by the presence of millions of mites in the horny layer of the skin. KS may be associated with underlying diseases, e.g. immune deficiency states and lymphoreticular disorders, or ...
Sturtevant F M - - 1980
Acrodermatitis enteropathica, a heritable disease of zinc deficiency, was formerly amenable to treatment only with dihaloquinolinol drugs. A few cases of optic atrophy were reported in surviving patients and were proposed as examples of ocular drug toxicity, principally because of the association between iodochlorhydroxyquin and subacute myelo-optic neuropathy (SMON) in ...
Zimmerman R C - - 1980
A case of severe methemoglobinemia and hemolytic anemia following ingestion of 5.6 gm of phenazopyridine with suicidal intent by a 16-year-old woman was successfully treated with intravenous methylene blue. Methemoglobinemia was suspected in this patient because of her intense central cyanosis, chocolate-colored blood, and minimal dyspnea. The patient's peripheral blood ...
Najean Y - - 1980
Tc-99m colloid and In-111 transferrin were used in a semiquantitative scintigraphic study of bone-marrow activity in 76 patients with aplastic anemia, the majority of which were severe cases. The results are compared with other known prognostic parameters and with a predictive index formulated from a prior multi-parametric analysis performed in ...
Wolinsky F D - - 1980
An analytic review of the literature on HMO performance reveals common limitations that make available evidence inconclusive, at best. Most studies have been more descriptive than analytic; others are characterized by serious deficiencies in methodology. Although several observations about the effects of HMOs appear frequently, the causes are not known. ...
Basner R - - 1979
Fibroblasts of four patients affected with mucosulfatidosis (multiple sulfatase deficiency, Austin variant of metachromatic leukodystrophy) were assayed for activities of the five sulfatases known to degrade mucopolysaccharides. These were iduronide 2-sulfate sulfatase, sulfamidase, N-acetyl-galactosamine 6-sulfate sulfatase, arylsulfatase B (N-acetylgalactosamine 4-sulfate sulfatase), and N-acetylglucosamine 6-sulfate sulfatase. The activities of these five ...
Vardy P A - - 1979
Congenital indifference to pain with anhydrosis (CIPA) is a well-defined entity among a group of sensory deficiency syndromes. Children with this genetic disease are insensitive to pain and temperature and do not sweat and suffer from psychomotor retardation. Self-inflicted trauma may be severe and lead to insoluble orthopedic problems. To ...
Syversen K - - 1979
A 63-years-old male with pernicious anemia had been treated for 20 years with weekly injections of iron-dextran and cyanocobalamine. Ophthalmological examination revealed the ophthalmoscopic picture of a tapetoretinal degeneration, reduced visual acuity and narrow visual fields. ERG and dark-adaptation test were normal. Hematological examination including liver and bone marrow biopsies ...
Kauli R - - 1979
A girl of remarkably short stature, referred for investigation with the diagnosis of gonadal dysgenesis and the finding of a male karyotype, proved to be deficient in growth hormone and gonadotrophin secretion, and was treated with growth and sex hormones. It was concluded that this case demonstrates an apparently casual ...
Kornfeld P - - 1979
A 57-year-old woman with diabetes mellitus, hypothyroidism, idiopathic thrombocytopenic purpura, myasthenia gravis, systemic lupus erythematosus, atopy, and basal cell cancer of the skin developed a severe Coombs'-positive autoimmune hemolytic anemia which was resistant to treatment with large doses of azathioprine, cytoxan, and prednisone. One year after transcervical thymectomy the hemolytic ...
Stoppoloni G - - 1978
A case of hyperornithinemia and gyrate atrophy of choroid and retina has been observed in a 3-year and 9-month-old girl. She presented also mild mental retardation, delayed language development and speech defects. The restriction of protein intake to a minimum of 0.8 g/kg/day induced a significant reduction of plasma ornithine ...
Kitabatake T - - 1978
In Japan after 1969, 11 cases of aplastic anemia following radiotherapy for malignant disease were detected. The population at risk in irradiated patients was estimated at 674, 664 man-years. The expected cases of aplastic anemia in this population were calculated as 10.1. There is no statistically significant difference between the ...
van Beek R J - - 1978
A 64-year-old male developed severe anaemia during procainamide therapy. At the same time granulocytopenia was found. Discontinuation of procainamide led to complete recovery. Severe anaemia due to the use of procainamide is not well known. The available data indicate a maturation block of the erythropoiesis as the possible cause of ...
Menius J W - - 1978
Classic hemophilia (hemophilia A. Factor VIII deficiency, antihemophilic factor deficiency) and polycythemia vera were diagnosed in a patient who presented for management of his dental disease. This case report summarizes the history, laboratory findings, and clinical course and discusses the various diagnostic considerations in the management of two rare disorders. ...
Ogbuawa O - - 1978
We investigated three black women who had anemia and skin hyperpigmentation. They were found to have pernicious anemia (PA) and normal adrenal functions. To our knowledge, this is the first report of skin hyperpigmentation of PA in black patients. This report reemphasizes the similarities in clinical features of PA and ...
Horoupian D S - - 1978
A 12-year-old boy being examined for vague chest pains was found to be suffering from acid maltase deficiency. Unlike previously reported cases in which vacuolization was most commonly noted in type I fibers, type II fibers were selectively involved in this patient and were atrophic Type I fibers were spared, ...
Ponticelli C - - 1977
A case is reported of the hemolytic uremic syndrome (HUS) in a woman taking oral contraceptives. She was treated with heparin, dipyridamole and hemodialysis; and after more than three months, her urinary output rose above 500 ml; and six months after the onset of anuria, dialysis treatment was stopped. This ...
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