Search Results
Results 451 - 500 of 645
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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. ...
McCuaig C - - 1993
Three new unrelated cases of PIBIDS (Photosensitivity, Ichthyosis, Brittle, sulfur-deficient hair [trichothiodystrophy], Impaired intelligence, Decreased fertility, and Short stature) are reported. Decreased survival of skin fibroblast lines after UVB exposure was found. All three male patients had hypogonadism and primary end-organ gonadal failure. Striking osteosclerosis was present in all three ...
De Michele G - - 1993
We report four sporadic cases of cerebellar ataxia associated with hypogonadism. All patients were female. The neurological symptoms appeared in the first three decades. Apart from ataxia, the most frequent features were nystagmus, dysarthria, mental impairment, brisk tendon reflexes, skeletal deformities, peripheral neuropathy, and tremor. Neuroimaging studies showed constant cerebellar ...
Lin C K - - 1993
Using a fully automated reticulocyte counter, the roles of the reticulocyte count with maturation in pancytopenia were evaluated. Different groups of pancytopenia including aplastic anemia, infiltrative marrow disorder, hypersplenism, and megaloblastic anemia were recruited. All patients had bone marrow examinations for morphological diagnosis and reticulocyte evaluation using an automated counter. ...
Søvik O - - 1993
A review is presented of 22 published cases of verified or probable mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency, a disorder of isoleucine and ketone body metabolism. The clinical expression, characterized by ketoacidosis, vomiting and lethargy, is highly variable. Typical age of onset is between 6 and 24 months. The disorder, which has ...
Berger A - - 1993
A case of type-I ulnar ray deficiency, combined with postaxial polydactyly of the opposite hand, is described. Heterotopic transfer of the supernumerary finger was performed, in order to improve function in the defective hand and to treat the hexadactyly of the other hand. A combination of these malformations has apparently ...
Morita M - - 1993
We report herein a case of 62-year-old woman with hereditary spherocytosis (HS) and congestive heart failure (CHF). Although her history revealed jaundice in the early neonatal period, she had never undergone a physical examination and thus, the diagnosis of HS and CHF was not made until the age of 61 ...
Leung K C - - 1992
A term neonate became lethargic and hypotonic at 46 hours of age and died 10 hours later despite supportive therapy. Urinary organic acids indicated medium-chain acyl-coenzyme A dehydrogenase deficiency, and DNA studies confirmed this disorder. Neonatal symptoms in this enzyme deficiency have rarely been reported, and recent reviews have ignored ...
Helm T N - - 1992
The case of a one-year-old girl with symptomatic zinc deficiency is presented. She had been misdiagnosed as having impetigo and/or candidiasis and had been treated with topical antifungal agents and both oral and topical antibiotic agents without success during the four months before she presented. Zinc replacement led to rapid ...
Drachtman R A - - 1992
Dyskeratosis congenita (DC) is a rare form of ectodermal dysplasia consisting of dystrophic nails, hyperpigmentation, and leukoplakia often associated with aplastic anemia. DC is considered to be an X-linked recessive trait, but affected females suggest genetic heterogeneity. We report an additional female with DC and review the world literature, indicating ...
Albers S E - - 1992
Alkaptonuria is a rare genetic disorder in which the enzyme homogentisic acid oxidase is deficient, resulting in the accumulation of homogentisic acid in various bodily tissues. This is a multisystem disorder with a characteristic blue-black discoloration of the skin and cartilage, which is termed ochronosis. Herein we report a profound ...
Guy G P - - 1992
Factor IX deficiency (hemophilia B, Christmas disease) is an X-linked recessive coagulation disorder. It occurs in one out of every 25,000-30,000 male births and requires even rarer genetic circumstances for phenotypic expression in females. We report the occurrence of a large, late-trimester subchorionic hematoma in a gravida with factor IX ...
Onica D - - 1992
We report a case of recurrent transient hyperphosphatasemia in a 29-year-old man with immune deficiency. He had serum alkaline phosphatase (ALP; EC 3.1.3.1) activity 16.9- and 4.8-fold greater than the upper reference limit on two occasions; the activity returned to normal within 2 months on the first and within 1 ...
Stacy C B - - 1992
Two cases of severe myeloneuropathy and macrocytic anemia associated with a low serum level of vitamin B12 after prolonged exposure to nitrous oxide are reported. In both cases, the neurological manifestations worsened initially despite B12 supplementation, although in one case the use of methionine seemed to arrest the progression of ...
Kaikov Y - - 1992
Hereditary hemochromatosis was diagnosed in three asymptomatic siblings following the unexpected finding of elevated serum iron concentrations. This diagnosis was confirmed by hepatic biopsy. Repeated phlebotomies resulted in a significant decline of serum iron and ferritin concentrations and a decrease of hepatic iron content. This report and a review of ...
Bierich J R - - 1992
Growth hormone deficiency (GHD) represents an aetiologically non-uniform disorder: it can have multiple causes. Three main groups can be differentiated: (1) GHD due to manifest organic alterations of the hypothalamo-hypophyseal system; (2) so-called idiopathic cases; and (3) genetically determined forms. The first group comprises the congenital malformations, affecting the midline ...
Taylor U B - - 1992
Idiopathic myelofibrosis is a rare myeloproliferative disorder characterized by excessive accumulation of connective tissue in the bone marrow in association with anemia, splenomegaly, and extramedullary hematopoiesis. The cause of this disease is unknown, and the prognosis is generally poor. To our knowledge, this is the first case report of a ...
Lalwani R B - - 1992
Acquired factor VIII deficiency is a rare immunologic disorder characterized by severe bleeding due to an antibody inhibitor directed against factor VIII. Treatment of this coagulopathy often is ineffective and costly. The authors report a case of acquired factor VIII deficiency in a patient who developed severe recurrent epistaxis. Antifibrinolytic ...
Sumimoto S - - 1992
Pure red cell aplasia (PRCA) is a rare disorder of erythrocyte production which is believed to have an autoimmune basis in most cases. Diamond-Blackfan anemia (DBA) is one type of congenital PRCA. Since PRCA has been reported to respond to intravenous gamma-globulin (IVGG) therapy, we administered IVGG to a 2 ...
Lam S - - 1992
A 33-year-old woman who was a chronic alcohol abuser and had bilateral visual loss was found to have megaloblastic anemia with thrombocytopenia. Both fundi showed retinal venular dilatation and tortuosity, superficial and deep intraretinal hemorrhages, white-centered retinal hemorrhages, and optic disc edema. Her megaloblastic anemia was caused by vitamin B12 ...
Wagner B K - - 1992
OBJECTIVE: To report a case of cefotetan disodium-induced hemolytic anemia. DATA SOURCES: Original research articles and case reports. DATA SYNTHESIS: A 46-year-old woman developed fulminant hemolytic anemia following a second exposure to intravenous cefotetan disodium for postoperative prophylaxis. She developed respiratory failure requiring intubation and acute renal failure requiring hemodialysis. ...
Schloo R - - 1992
We have reviewed the follow-up of almost 3000 completed pregnancies in the Münster CVS Program and identified 4 children with distal limb deficiencies. Two cases involved only minor anomalies of distal digital phalanges. One child had a Hanhart anomaly (hypoglossia hypodactylia). We also reviewed 24 cases of limb defects following ...
Owen I - - 1992
A case of autoimmune hemolytic anemia (AIHA) in a young child is described. The hemolysis was resistant to steroid therapy but responded to splenectomy and intravenous immunoglobulin. The autoantibody was shown to be anti-Sc1 by both serologic and immunoblotting techniques. This seems to be the first report of an autoanti-Sc1 ...
Yip J - - 1992
Hereditary angioedema is a rare disorder which is associated with an inherited deficiency of the inhibitor of the activated first component of complement. Genetic transmission occurs in an autosomal dominant manner. Affected patients are heterozygotes, and their deficiency is incomplete, many of them having up to 20% of the normal ...
AltintaƟ B - - 1992
A four-month-old boy with beta-ketothiolase deficiency is described in this report. Presenting symptoms and signs were vomiting, irritability and acidotic respiration. Laboratory investigations revealed hyperglycinemia, metabolic acidosis and ketosis. Subsequent urinary GC-MS analysis of the patient's urine sample showed the typical pattern of beta-ketothiolase deficiency. Our experience with this case ...
Arroyo H A - - 1991
The authors report an extremely rare case of monozygotic triplets with globoid cell leukodystrophy (Krabbe disease). Born to healthy, non-related, heterozygous parents, all three girls presented with typical signs of beta-galactocerebrosidase deficiency before one year of age and died within the first 41 months of life. The literature is briefly ...
Yoshida Y - - 1991
We report a case of HAM/TSP presenting with short stature, mental retardation, skin eruptions, uterine and ovarian hypogenesis and nephropathy. Skin erythema was noted since from the age of three years old and spasticity of lower extremities from elementary school age. Serum calcium level showed 4.1 mEq/l. Recombinant human PTH ...
Fairley C K - - 1991
Invasive aspergillosis (IA) is a rare infection in patients with the Acquired Immune Deficiency Syndrome (AIDS). We report the first Australian cases of histologically and microbiologically proven IA diagnosed antemortem in AIDS patients. We also describe the first case of laryngeal involvement and the unusual case of a pneumothorax due ...
Kaikov Y - - 1991
A male Caucasian infant presented at 6 weeks of age with failure to thrive, diarrhoea, macrocytic anaemia, and decreased IgG. He had normal serum B12 and folate levels. Serum cobalamin binding capacity showed no detectable transcobalamin II. Both parents showed levels consistent with a heterozygous state. The literature is extensively ...
Doxey D L - - 1991
An attempt has been made to assess the diagnostic value of clinical features seen at initial examination of horses with grass sickness, colic cases and cases submitted as possible grass sickness but diagnosed subsequently as some other condition. There appears to be no single pathognomonic sign for grass sickness. A ...
Orme S M - - 1991
Isolated ACTH deficiency is a rare disorder. We report four cases of this disease which presented to the Department of Endocrinology at Leeds General Infirmary over a one-year period. The diagnostic clinical and biochemical features of each case are discussed and the pertinent literature is reviewed. The clinical investigations vary ...
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