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Results 451 - 500 of 560
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Dawod S T - - 1988
Findings are presented on a Pakistani family in Doha, Qatar with hemoglobin D-Los Angeles (alpha 2 beta 3 121 (glutamine----glycine) and thalassemia trait. The propositus, a child, has hemoglobin D-beta(0) thalassemia, and suffers from moderately severe hemolytic anemia. The father has beta-thalassemia trait, and the mother is heterozygous for hemoglobin ...
- - 1987
The incidence of aplastic anemia was estimated in a 4-year study conducted in Israel and seven areas in Europe. Strict definition criteria were used, and all data and bone marrow specimens were reviewed by a panel of experienced hematologists. Complete ascertainment of cases was attempted by establishing a telephone network ...
Krauss J S - - 1987
The glycated hemoglobin (GHb) is lowered by hemolytic anemia. The cation-exchange HbA1 has been shown to be lowered by hereditary spherocytosis (HS). The HbA1, however, can be increased by elevations of fetal hemoglobin (HbF). The affinity GHb, a parameter related to, but not identical with, the HbA1, and unaffected by ...
Jones E - - 1987
We describe a 66-year-old women with CREST variant of scleroderma who developed autoimmune hemolytic anemia responsive to prednisone and demonstrated a deficiency of IgA and the C4 component of complement. This association of clinical, immunologic and genetic findings has not previously been reported. The literature relating to these findings is ...
Tucker G F GF - - 1987
A previously undescribed deficiency of the posterior cricoid at the midline, wherein the mucosa overlying this deficiency is intact, is described. Clinically this presents as a variety of subglottic stenoses wherein the narrowing is primarily in the transverse subglottic diameter; the symptoms are, therefore, those of airway obstruction not laryngeal ...
Morris G E - - 1987
A case of hereditary angioneurotic oedema, which was only diagnosed after presentation to several hospital departments, is reported. It was then discovered that the mother of the patient had the same condition but that, unusually, it appeared to have been in remission for more than 20 years. This disease, due ...
Young I D - - 1987
A 12 year old boy with neuraminidase deficiency (sialidosis, mucolipidosis I) is described. His clinical features included coarse facies, cherry red spot, ataxia, myoclonus, and dysotosis multiplex. The level of neuraminidase activity in cultured fibroblasts was very low and intermediate levels were observed in both parents. The clinical disorders associated ...
Ransome O J - - 1987
A newborn baby with acute respiratory distress caused by tension haemothorax is described. An abnormal clotting profile indicated that the haemothorax was possibly due to a clotting deficiency. Ultrasonography was useful in establishing that the cause of the radio-opacity was fluid. The baby's problem was rapidly resolved by drainage and ...
Hawass N E - - 1987
This is the first report of three cases of adult geophagia in Saudi Arabia, two with a history of eating mud, and the third of eating pebbles. The presentation in these patients were of abdominal pains, with the radiographs showing very dense opacities within the intestine, especially the colon. These ...
Berger M - - 1987
Mild-to-moderate thrombocytopenia has been reported as an occasional finding in patients with iron deficiency. The present case describes a multiparous woman who presented with increased menorrhagia, severe anemia (3.0 g/dl) and thrombocytopenia (9,000 platelets/mm3). Her bone marrow examination showed iron deficiency, megakaryocytopenia, and erythroid hypoplasia but no other evidence of ...
Friedman C I - - 1987
A woman with autoimmune oophoritis was found to have luteal phase progesterone levels throughout a six-month period of amenorrhea. The common presentation of amenorrhea or metrorrhagia, despite the presence of a corpus luteum, in women with autoimmune oophoritis might result from this chronic progesterone production. A clinical picture consistent with ...
Wilson S C - - 1987
Incomplete masculinization due to a deficiency of 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) was investigated in siblings aged 4 years (Case 1) and 12 years (Case 2). Diagnosis was based on increased ratios of androstenedione (A) to testosterone (T) in blood, and impaired reduction of A to T by 17 beta-HSD ...
Matthews S J - - 1986
Two cases of vitamin D deficiency rickets in cerebral palsied children are presented. The problem of diagnosis and possible etiological factors are discussed. This report highlights a problem that is often not recognized in South Africa, particularly because of the abundant sunshine and, therefore, the rarity of vitamin D deficiency ...
Self K G - - 1986
The diagnosis and treatment of anemia in medical inpatients were studied. Anemia was detected from the admitting complete blood cell count, the medical charts were perused for management of anemia by the physicians, and the cases of anemia were classified by the investigators, using the complete blood cell count and ...
Poelmann A M - - 1986
The case-history of a pregnant woman with a life-threatening thrombocytopenia, due to folic acid deficiency, caused by an extremely low dietary intake is described. As folic acid deficiency manifests itself in a variety of ways, its clinical features are not always easily recognized. Timely recognition is important because of the ...
Jones F T - - 1986
Twenty samples were collected before and after pelleting a 454-kg-lot of feed and assayed for vitamin A. Vitamin A assay levels were reduced 6.5% by pelleting at 80 C. The value reported here is one-fifth the value reported in 1958 and 30% lower than the value recently reported.
Davila D G - - 1986
We have described a patient with thymoma, hypogammaglobulinemia, pernicious anemia, and malignant schwannoma. Review of the literature yielded only one other case of the triad of thymoma, hypogammaglobulinemia, and pernicious anemia. We propose that autoimmunity was the common etiology for the coexistence of thymoma, hypogammaglobulinemia, and pernicious anemia in our ...
Castagliuolo P P - - 1986
Five male military recruits were studied for evidence of immunologic deficiencies. Four had recovered recently from a first-episode meningococcal meningitis and one presented with recurrent meningococcemia. A selective decrease in IgG and IgA was found in one of the first-episode patients and a selective IgG2 subclass deficiency in the recurrent ...
Olver J - - 1986
The case is described of a 39-year-old man with previously undiagnosed chronic schizophrenia and with bilateral keratomalacia secondary to his bizarre diet. He presented with a perforation of the right cornea which required an emergency penetrating keratoplasty. The difficulties of clinical management of a patient with an overt psychosis and ...
Park B K - - 1986
The case histories of two patients exposed to the novel anticoagulants brodifacoum and difenacoum are reported. Abnormal vitamin K1 metabolism, as indicated by elevated vitamin K1 2,3-epoxide plasma concentrations after i.v. administration of vitamin K1, could be detected for more than 18 months after exposure to the anticoagulants. There was ...
Carlson D L - - 1986
Sports anemia has been referred to as an anemic or borderline anemic state in physically active individuals, particularly athletes. This paper is a review of literature on sports anemia, including whom it may affect and its effect on performance, and its diagnosis. In general, sports anemia has been found to ...
Bowling F G - - 1986
An infant with a deficiency of the enzyme uridine diphosphate galactose-4-epimerase was detected during galactosaemia screening of the Queensland newborn population. No case of epimerase deficiency has been reported previously in Australia and the incidence in our population is unknown. A deficiency of this enzyme is usually quite benign although ...
Miller N - - 1986
We report on a newly diagnosed family with hereditary antithrombin III deficiency, with thromboembolic complications in the propositus. Both the propositus and his asymptomatic sister had decreased plasma levels of antithrombin III antigen and activity (28-52% of normal with good agreement between functional and immunologic assays). The propositus developed deep ...
Oates C E - - 1986
A 24-year-old man presented with dystonia, dementia, amyotrophy, choreoathetosis, and ataxia. Partial hexosaminidase A deficiency was documented in serum and leukocytes and confirmed by rectal biopsy with ganglion cells containing membranous cytoplasmic bodies. A brief review of the literature reveals that tremor, dystonia and choreoathetosis are common but neglected symptoms ...
Horne S L - - 1986
In a community survey of 953 adults we identified 40 who reported having had psoriasis. Eight of these cases were subsequently documented from physicians' records. alpha 1-Antitrypsin (alpha 1-AT) phenotyping identified 35 MZ individuals, 4 (11.4%) of whom reported psoriasis. Among the 918 non-MZ individuals 36 (3.9%) reported psoriasis, yielding ...
Aubourg P - - 1986
Nine cases of neonatal adrenoleukodystrophy are described. All patients had abnormal facial features, moderate to severe hypotonia, hepatomegaly, and retinitis pigmentosa. The clinical course was rapidly progressive in six cases and more protracted in three others. Biological signs of adrenal insufficiency were present in five cases. CT scan showed a ...
Condom E - - 1985
A case of adrenal myelolipoma, which to our knowledge is the first case to be associated with 17-hydroxylase deficiency, is reported. This rare, benign lesion is known to occur in association with other endocrinopathies. Discussion focuses on the possible role of continued stimulation by corticotropin and/or steroids as pathogenic factors. ...
Hopkins J E - - 1985
We describe two female patients aged 31 and 62 y who developed severe aplastic anaemia following the use of hair dye containing para-toluenediamine. One received a bone marrow transplant but died after developing graft versus host disease and severe opportunistic infection. The second responded to treatment with methylprednisolone, oxymetholone and ...
Undevia J V - - 1985
Incidence of haemoglobin variants and G-6-PD deficiency among 1385 males belonging to 12 endogamous Dhangar castes of Maharashtra, India, have been reported. Of the 12 castes studied 11 lacked the allele for G-6-PD deficiency; 2.7% of the Thellaris were found to be deficient. Haemoglobin Hb-D trait is found in 2 ...
Ueda K - - 1985
Hemolytic anemia following postnatally acquired rubella first was reported by Sato et al. in 1977. Thirteen cases of hemolytic anemia (including two cases of hemolytic uremic syndrome) following postnatally acquired rubella infection reported in a nationwide epidemic of rubella in Japan in 1975-1977 are reviewed in this article, and another ...
Drummond J F - - 1985
This report describes the clinical and histologic features of a case of megaloblastic anemia, resulting from a gastric bypass operation, in which oral symptoms were the first significant finding. Although this case appears to be the first of its type reported in the literature, the potential for future cases is ...
Barbeau A - - 1984
We have measured in leukocytes the following lysosomal enzymes in 11 Friedreich disease cases, 11 "atypical" recessive ataxias, 13 neurological controls and 16 normal controls: hexosaminidase A and B; beta-galactosidase and neuraminidase (labile and cold stable, or A and B). The lysosomal enzyme deficiencies known to produce certain forms of ...
- - 1984
In this retrospective investigation into the possible causes of aplastic anemia, the charts of 360 patients with primary or secondary aplastic anemia were analyzed for clinical history, proof of diagnosis, possible etiology, and prognostic criteria. During the period of the study, the proportion of cases of aplastic anemia due to ...
Lever E G - - 1984
Four cases of auto-immune Addison's disease are reported in association with hyperprolactinaemia. Two of the females had galactorrhoea. In three cases complete resolution of hyperprolactinaemia occurred with corticosteroid replacement, but it was only partial in the fourth. We suggest that hyperprolactinaemia was due to cortisol deficiency operating directly or indirectly ...
Trautlein J J - - 1984
Two hundred consecutive cases brought to the attention of a malpractice insurer by evidence of expected legal action were reviewed. Of these cases, 132 (66%) were attributed primarily to misdiagnosis, and 87 of these would have satisfied admission criteria. The most common error was grossly deficient examination relating to the ...
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 ...
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