Search Results
Results 251 - 300 of 475
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Vassiliadou D - - 1998
HbOThrace is an abnormal hemoglobin which is constructed by defective beta chains (Glu121-->Lys121). It mostly characterises the Muslim minority of the Thrace region. During the last 6 years, our department detected HbOThrace in 118 cases. Four groups were formed, the first consisted of cases of HbOThrace trait with normal iron ...
Kaufman D W - - 1997
PURPOSE: Felbamate (FBM) is a new antiepileptic drug (AED) that is often effective in seizure disorders refractory to other treatments; its use has been greatly restricted after cases of aplastic anemia were reported. To elucidate the putative association between FBM and aplastic anemia, we made a detailed evaluation of the ...
Terzioğlu E - - 1997
A man with an ankylosing spondylitis (AS) and selective IgA deficiency is described. There have been several reports in the literature indicating coexistence of AS with selective IgA deficiency. As it is suggested in the literature, we believe that selective IgA deficiency is a poor prognostic factor in AS.
Chen C Y - - 1997
A case presenting with an unusual association of primary biliary cirrhosis and mixed type autoimmune hemolytic anemia plus sicca syndrome is described. The 49-yr-old female primary biliary cirrhosis patient had a confirmed sicca syndrome and presented with jaundice and life-threatening anemia. Laboratory tests revealed positive Coombs' test with coexisting cold ...
Prasad A N - - 1997
Argininemia, a rare autosomal recessive urea cycle disorder, is caused by a deficiency of arginase, with resulting elevated plasma arginine and ammonia levels. Reports to date have focused little on the neurology of this disorder or the efficacy of treatments. A MEDLINE search revealed 25 previously reported cases, to which ...
Chalk C H - - 1997
This article reviews the acquired causes of polyneuropathy other than diabetic and acute-onset neuropathies. The author gives a general method to simplify the diagnosis of chronic polyneuropathy. The acquired polyneuropathies are discussed under four main headings: metabolic disorders, toxic or deficiency states, infections, and immune-mediated. Recent advances in therapy are ...
Lavín S - - 1997
Two cases of haemonchosis occurred in the Spanish ibex (Capra pyrenaica) population of the National Hunting Reserve of Tortosa and Beseit, northeastern Spain, in July 1992 and May 1993. The animals were cachectic and recumbent and had an acute hemorrhagic, macrocytic and hypochromic anemia; which was related to a high ...
Amirkhan R H - - 1997
We report the premortem and postmortem morphologic and histologic features and biochemical findings of a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase (L-CHAD) deficiency and compare these with those described in previously reported cases of L-CHAD deficiency. In addition to chronic nonketotic hypoglycemia, hypotonia, and liver failure, this patient had chronic hemolytic ...
Rennenberg R J - - 1997
A 50-year-old female presented with severe Coombs-positive haemolytic anaemia. Chest roentgenogram revealed a right-sided paracardial mass in the anterior mediastinum that was proven to be a thymoma. The patient was treated with oral prednisone (1 mg/kg/day) and subsequent thymectomy. Haemolysis did not return although the direct Coombs test remained weakly ...
Peled M - - 1997
C1-inhibitor deficiency, or hereditary angioedema, is a genetic disorder characterized by recurrent circumscribed, nonpruritic, nonpitting subepithelial edema. Minor trauma to the tissue, such as tooth extraction, can trigger life-threatening laryngeal edema. The use of fresh frozen plasma and/or danazol before treatment prevents angioedema attacks. A critical review of the treatment ...
Mupanomunda O K - - 1997
The diagnosis of transient erythroblastopenia of childhood (TEC) is usually straightforward, with temporary cessation of red blood cell production resulting in normocytic normochromic anemia, reticulocytopenia, and bone marrow erythroblastopenia. We describe here a case of TEC presenting with features of leukoerythroblastic anemia. To our knowledge, this is the first such ...
Ward A C - - 1997
Alpha-1-antitrypsin deficiency is an autosomally inherited disease in which individuals homozygous for the disorder are prone to develop severe emphysema. We report the case of a 43 yr old man with severe deficiency and advanced emphysema and the first experience in Ireland with intravenous alpha-1-antitrypsin replacement. After 1 yr of ...
Costamagna L - - 1997
A patient with hemolytic disease of the newborn (HDN) due to maternal anti-Kpa alloimmunization is described. Although there are few reports in the literature, it appears that HDN due to anti-Kpa is often mild and transfusion therapy is rarely required. However, in this case, the baby's hemoglobin progressively decreased and ...
Moll S - - 1996
Splenomegaly in adult patients with homozygous sickle cell anemia (HbSS) is uncommon and splenic sequestration crises are rare. This paper describes a patient with HbSS who, at the age of 24, began to experience acute splenic sequestration crises. These episodes occurred with sufficient frequency and severity to warrant splenectomy. This ...
Nafa K - - 1996
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired chronic hemolytic anemia characterized by intravascular hemolysis, often associated with neutropenia and thrombocytopenia. Venous thrombosis, including the Budd-Chiari syndrome, is one of the major complications of PNH, but not all PNH patients develop thrombosis. The basis for the high risk of thrombosis in ...
Katayama I - - 1996
A topical vitamin D3 ointment (tacalcitol) was prescribed for patients with long-lasting pruriginous lesions (four with prurigo nodularis and seven with subacute prurigo, four of whom had atopic dermatitis). Seven of 11 cases had not responded to a topical steroid ointment and even to occlusive application of the ointment. Nine ...
Sikka M - - 1996
A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. ...
Mach-Pascual S - - 1996
Microcytosis is a highly prevalent finding during blood examination. This study investigates the causes of microcytosis (defined as mean corpuscular volume (MCV) < 82 fl) in 466 patients referred to our laboratory for suspected hemoglobinopathy. The following data were obtained: Hb, MCV, serum iron, transferrin, ferritin, HbA2, HbF, isoelectric focusing ...
Wakabayashi H - - 1996
We report herein the fifth family of hereditary deficiency of lactate dehydrogenase (LDH) H-subunit with an autosomal recessive inheritance including two cases of complete deficiency. Their LDH activities were low both in the serum and in the red blood cells (RBC). Electrophoretic analysis revealed that the patients with the complete ...
Fisher N C - - 1996
Haemochromatosis may present in different ways according to the organ predominantly affected by iron overload. Presentation with symptoms caused by deficiency of pituitary gonadotrophins is recognized but rarely reported. We present such a case and argue that haemochromatosis may be a more common cause of impotence than is presently realized.
Rayner S A - - 1996
The question of a link between the use of topical ocular chloramphenicol and the incidence of aplastic anaemia continues to be a controversial issue in ophthalmological spheres. At present topical ocular chloramphenicol is widely used in the UK for the treatment of conjunctivitis, whereas it is very rarely prescribed for ...
Oksüzoğlu B C - - 1996
A 26-yr-old man was admitted with malaise and melena. During the physical examination, six hemangiomas were spotted on the skin, and laboratory evaluations proved the existence of severe iron deficiency anemia (Hb 2.9 g/dl). Upper endoscopy and small bowel follow-through revealed no pathology. Colonoscopy documented the presence of a blue-red ...
Hasanoğlu A - - 1996
Gyrate atrophy of the choroid and retina is characterized by autosomal recessive inheritance, progressive chorioretinal atrophy beginning in late childhood, and hyperornithinemia with ornithinuria caused by deficient ornithine aminotransferase activity. In this paper, four patients with gyrate atrophy are described. All patients had visual impairment, mental retardation, hyperornithinemia, hypolysinemia, ornithinuria ...
Brilliant S E - - 1996
We report the case of an 18-year old man with hemolytic-uremic syndrome (HUS) having a classic clinical presentation and diagnostic renal pathology without evidence of microangiopathic hemolytic anemia (MAHA) by peripheral blood smear. Indirect evidence of hemolysis was suggested by mild anemia, elevation of serum lactate dehydrogenase, and examination of ...
Nakhleh R E - - 1996
OBJECTIVE: To examine and suggest improvements for deficiencies occurring in the specimen identification and accessioning process in the surgical pathology laboratory. DESIGN: Using the College of American Pathologists' and the Joint Commission for Accreditation of Healthcare Organizations' requirements as the standard, each laboratory was asked to prospectively document deficiencies in ...
Singer-Granick C - - 1995
Renal salt wasting secondary to 11-beta-hydroxylase deficiency (11-beta-OHD) has been described in a few patients. This report describes an infant with 11-beta-OHD initially thought to be in adrenal crisis with renal salt wasting. Subsequently the sodium loss was found to be due to a secretory diarrhea, and this prompted us ...
Dunphy C H - - 1995
Lymphoproliferative disorders of granular lymphocytes (LDGLs) have recently been hypothetically defined based on their immunophenotype, function, and clonality. The majority (129/161) of LDGLs are of the T-cell subset, which is typically associated with neutropenia and occasionally with anemia. The remainder (32/161) are of natural killer cell origin. This subset is ...
Meletis J - - 1995
A case of adult osteopetrosis Type I was diagnosed in a 22-year-old female. She presented for investigation of anaemia with 'myelophthisic' characteristics and extramedullary haemopoiesis which was resistant to haematinics, nandrolone and low-dose corticosteroids. She became progressively transfusion-dependent with gradually worsening thrombocytopenia. She was successfully treated with recombinant erythropoietin. Anaemia ...
Colina K F - - 1995
We describe two children who had breath-holding spells that were accelerating in frequency and severity and in one case had recrudesced. Both patients had signs, symptoms, and laboratory findings of severe anemia. With correction of anemia the breath-holding spells promptly and completely resolved in each case. We conclude that in ...
Tanphaichitr V S - - 1995
Thalassemia hemoglobinopathies and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency are prevalent in Thailand. We studied the prevalence of these disorders from 1,000 cord bloods collected during 14 months period, using EDTA as anticoagulant. Red blood cell G-6-PD quantitative assay was performed in all male subjects. Nine hundred and eighty five specimens were ...
van de Kerkhof P C - - 1995
A psoriatic patient with absolute deficiency of IgA is reported. The manifestations of psoriasis appeared at the age of 6 months and proved to be resistant to various treatments. The present case report and the data available in the literature on IgA and psoriasis all converge on the hypothesis that ...
Aquino V M - - 1995
Exserohilum rostratum is a dematiaceous fungus that rarely causes infection in humans. We describe a patient with severe aplastic anemia who developed fatal disseminated disease caused by E. rostratum, and we review the English-language literature on this unusual agent. Our patient initially presented with signs and symptoms of sinusitis, which ...
Ishak R - - 1994
A comparative study was done to determine the profile of vitamin B12 and folate status in Malaysians during two different periods. For the period of 1987/88, we analysed a total of 9,162 cases (inpatients) referred for vitamin B12 estimation and 10,290 cases for folate estimation. We found that 2.6% were ...
Asimacopoulos P J - - 1994
Here we describe a case of angina pectoris in a patient for whom an extensive cardiovascular workup was done, with negative results. Eventually, the cause of his symptoms was found to be pernicious anemia. Although angina is an uncommon manifestation of pernicious anemia, a review of the literature suggests that ...
Beaupre S R - - 1994
Volatile nitrites are illegally marketed compounds that have been inhaled by persons who believe that they cause sexual arousal. These substances have been associated with significant hemolysis of red blood cells in patients with decreased or normal glucose-6-phosphate dehydrogenase levels because such nitrites act as cell-membrane oxidants. We report herein ...
Seguin J - - 1994
OBJECTIVE: To describe two cases of inherited antithrombin III (AT-III) deficiency presenting at less than or equal to 28 days of age, and to review other neonatal reports. RESEARCH DESIGN: Clinical descriptions of two patients and literature review of known references to the neonatal presentation of this disorder. SETTING: Academic ...
Neumann M J - - 1994
Lecithin-cholesterol acyltransferase is responsible for the formation of most cholesteryl esters in plasma. Absence of this enzyme can result in a rare syndrome that includes diffuse corneal opacities, normocytic normochromic anemia, proteinuria, renal failure, and premature arteriosclerosis. The deficiency can be inherited in an autosomal recessive manner, or it can ...
Blanco A - - 1994
We report a 13-year-old boy with hereditary deficiency of protein S, who developed a deep vein thrombosis of the lower limb after a varicella with severe cutaneous lesions. Hereditary protein S deficiency is an established cause of thrombophilia; however thrombotic events are seldom described in pediatric patients. A review of ...
Peny M O - - 1994
We report two cases of "water-melon stomach", which is a peculiar form of gastric antral vascular ectasia, characterized by a specific and striking endoscopic aspect. It is observed in a context of chronic iron deficiency anemia and gastrointestinal blood loss, particularly in elderly female patients. The clinical endoscopic, histologic, pathogenic ...
Salloum E - - 1994
Hemolytic anemia with positive direct antiglobulin test in association with spontaneous cytomegalovirus (CMV) infection is a very rare event in healthy adults. We report here 2 patients who have recently suffered from this complication and review similar cases previously reported in the literature. Because CMV serology is not routinely obtained ...
Kale P B - - 1993
OBJECTIVE: To report the use of Fluosol in the management of a severe anemia and to review the literature regarding the use of Fluosol. CASE REPORT: A 40-year-old woman, at 40.5 weeks gestation, was admitted for induction of labor. Her hospital course was complicated by a postpartum hemorrhage and severe ...
Fleming L E - - 1993
The majority of cases of aplastic anemia, a rare previously lethal disease, are of unknown etiology. Nevertheless, for the past 3 decades, case reports and case series of aplastic anemia have suggested an etiologic association between aplastic anemia and pesticide exposure. A review of the medical literature, including basic science ...
Hirshberg A J - - 1993
The case of a 57-year-old woman with no personal or family history of coagulopathy or blood dyscrasia who was found to be factor VII deficient by routine laboratory testing is reported. The patient was also found to have type 2 diabetes mellitus and adenocarcinoma of the uterus in the course ...
Fasano M B - - 1993
Chronic meningococcemia represents an uncommon manifestation of meningococcal disease. Microbial and host factors which may predispose to this form of meningococcal disease are not understood. Although acute meningococcal disease is frequently found in patients with terminal complement deficiencies, the relationship of chronic meningococcemia to complement deficiencies is unclear. We present ...
Lugassy G - - 1993
A rare case of severe primary autoimmune hemolytic anemia with cold agglutinin and extensive cutaneous sclerodermic changes is reported. This association has not been previously documented in the literature. The anemia was refractory to steroids but responded to danazol treatment. Danazol may be an effective therapy in some cases of ...
Cantatore F P - - 1993
Two cases of prolidase deficiency in two siblings are presented. The patients complained of the typical clinical symptoms of the disease, including chronic leg ulcerations resembling vasculitis. They were mentally retarded, had typical facial characteristics, splenomegaly, and haematologic anomalies. Biochemical and morphological investigations confirmed the diagnosis. In these cases, alterations ...
Marcus R W - - 1993
A case of selenium-deficiency myopathy, secondary to total parenteral nutrition, is presented. The literature on selenium-deficiency myopathy and cardiomyopathy is reviewed in the context of the literature concerning selenium status in numerous diseases. An hypothesis of a wider role for selenium deficiency in the pathogenesis of myopathy and cardiomyopathy is ...
Peeters S - - 1993
We report the case of a newborn girl with antithrombin III deficiency type 1. The clinical features of a hypercoagulable condition that lead to this rare diagnosis differed from the reports in the literature, since the primary thromboembolic incident resulted in neonatal myocardial infarction, which is in itself a rare ...
Slot H M - - 1993
Intractable seizures in the neonatal period may be caused by molybdenum-cofactor deficiency, an inborn error which combines the deficiencies of sulphite oxidase and xanthine dehydrogenase. The neurological symptoms of molybdenum cofactor and isolated sulphite oxidase deficiencies are identical. Two new cases are reported, and the literature on neonatal convulsions due ...
Grant D B - - 1993
Review of 20 patients with glucocorticoid deficiency (three cases also with salt loss) associated with absent tear secretion (19 cases) and achalasia of the cardia (15 cases) revealed neurological abnormalities in 17 including hyper-reflexia, muscle weakness, dysarthria, and ataxia together with impaired intelligence and abnormal autonomic function, particularly postural hypotension. ...
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