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Results 301 - 350 of 473
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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 ...
Rush B M - - 1991
A case of amebic anemia in a 53-year-old Louisianian prompted us to report it, in order to create awareness of such cases occurring in the absence of foreign travel. If one is cognizant of amebiasis it will be included in the differential diagnosis when it is proper to do so.
Juangbhanit C - - 1991
An 11-year-old boy who presented with anemia, premature grey hair, hyperpigmented skin, paresthesia, recurrent aphthous ulcers and epistaxis was eventually proved to be a case of vitamin B12 deficiency. Due to the paucity of this deficiency, the diagnosis may easily be delayed and overlooked resulting in unfavorable consequences. Therapeutic response ...
Monafo V - - 1991
No further reports of associated X-linked hypogammaglobulinemia and isolated growth hormone deficiency have appeared in the literature since the description of the first affected family, two brothers and two maternal uncles, by Fleisher et al. in 1980. We report here a 13-year-old boy with X-linked agammaglobulinemia and isolated growth hormone ...
Simioni P - - 1991
Congenital protein C deficiency is described as associated with recurrent thrombotic manifestations. The proband, a fourteen-year-old female, has a history of severe and frequent thrombotic disease, moreover, she presents congenital multiple hemangiomas. Family history was positive for protein C deficiency since the mother of the proposita is also affected and ...
Shindo K - - 1991
Crusted scabies, an unusual clinical variant of human scabies mite infestation, is usually reported in cases of gross debility, mental deficiency, or immunosuppression. We report here the occurrence of crusted scabies in a 40-year-old man with acquired selective IgA deficiency suspected to be caused by long-term medication with phenytoin for ...
Maloisel F - - 1991
Cunninghamella bertholletiae is a fungus of the Zygomycetes class, Mucorales order. Only very few cases of disseminated infection have been reported. We observed a new case in a 19 years old man with severe aplastic anemia, due to pulmonary primoinfection and hematologic dissemination. This aplastic anemia failed to respond first ...
Magli A - - 1991
The authors describe a case of Parinaud's syndrome in a 14-year-old boy with delayed puberty. The neurological examination and the neuroradiological work-up excluded the presence of cerebral pathological processes except for a pituitary microadenoma. As the sole presence of the microadenoma cannot justify gonadotropin deficiency, the authors in this case ...
Rana K S - - 1991
Depending upon the transferrin saturation value, 214 serum samples were divided into three groups--iron overloaded (46 cases), iron deficient (61 cases) and normal (107 cases)--and tested with a micromethod based upon detection of unsaturated iron binding capacity. All the samples with iron overload could be distinguished from the other two ...
Lugo-Somolinos A - - 1990
Several reports have appeared in the literature suggesting that Vitamin D metabolites and analogues may be useful for the treatment of psoriasis. This is a report of an open study in which the efficacy of 1, Alpha-25-dihydroxyvitamin D (Calcitriol) is evaluated in cases of moderate to severe psoriasis. Study of ...
Broun E R - - 1990
Two patients with sideroblastic anemia secondary to zinc-induced copper deficiency absorbed excess zinc secondary to oral ingestion. The source of excess zinc was a zinc supplement in one case; in the other, ingested coins. In each case, the sideroblastic anemia was corrected promptly after removal of the source of excess ...
Gulley M L - - 1990
We report the observation of a high neutrophil myeloperoxidase activity (MPXI) in patients with megaloblastic anemia. MPXI is rapidly measured as part of an automated complete blood count (Technicon H*1, Technicon Instruments Corp, Tarrytown NY). We describe the range of MPXI levels in healthy and patient populations and in 10 ...
Sansone R - - 1990
All the papers of the Italian authors on Fanconi's anemia are carefully listed. In the meantime some data of an epidemiological inquiry on the Italian unpublished cases are notified. They are as follows: i) the frequency of the disease is higher than it could be suspected; ii) the regional distribution ...
Cunha U G - - 1990
A total of 110 unselected demented outpatients aged 60 and over (mean age: 76.2 years), 69 women and 41 men, were prospectively investigated. A potentially reversible cause of dementia was found in 26 patients (normal pressure hydrocephalus 2, cerebral tumor 1, hyperthyroidism 2, hypothyroidism 4, vitamin B12 deficiency 13, pseudodementia ...
Poker I D - - 1990
Factor XI deficiency is a relatively common hereditary coagulation disorder manifested generally as diffuse oozing from a surgical site. Dentists may be the first to discover this deficiency and other coagulopathies after simple tooth extraction. A case is reported which illustrates a typical presentation of this disorder. The need for ...
Eid N S - - 1990
Much has been learned about vitamin A physiology in the last 50 years, yet few changes have been made in therapy. Unfamiliarity with vitamin A bioavailability and distribution may inadvertently result in toxicity. A literature search demonstrates that hypovitaminosis A has rarely been reported in patients with cystic fibrosis, and ...
Itabashi H - - 1990
Relapsing Polychondritis (RPC) is a rare disorder of unknown etiology which affects mucopolysaccharide-rich tissues such as cartilage. A 64-year-old man developed auricular and nasal chondritis with complaints of arthralgia of the hands and cervical pain. The auricular biopsy established the diagnosis of RPC. The hematological data revealed normocytic, slightly hypochromic ...
Mehta B C - - 1989
Iron loading anaemias are characterized by anaemia, high serum iron, transferrin saturation and ferritin values, and haemosiderin deposits in parenchymal cells and reticuloendothelial tissue with or without organ dysfunction. Sideroblastic anaemias and congenital dyserythropoietic anaemias (CDA) are important types of iron loading anaemias. Two cases of sideroblastic anaemia and five ...
Riggs S - - 1989
Abnormal vaginal bleeding in perimenarchal females is usually attributed to immaturity of the hypothalmic/pituitary/gonadal axis (i.e., dysfunctional uterine bleeding). Iron deficiency as a cause for abnormal bleeding has been described, but is poorly understood. This case report describes a 13-year-old Hispanic female with iron deficiency anemia as a presumptive cause ...
Murakami T - - 1989
Extramedullary hematopoiesis (EMH) is observed in people suffering from severe anemia of prolonged duration and appears to be a compensatory mechanism for disturbed medullary hematopoiesis. The hemoglobinopathies (such as thalassemia, spherocytosis, and sickle cell disease), neoplastic diseases such as leukemia and lymphoma, and others, including myelofibrosis and osteitis fibrosa cystica, ...
Abou-Taleb S - - 1989
This study was carried on 60 male patients, 20 have simple intestinal mansoniasis, 20 have simple urinary bilharziasis and 20 have hepatosplenic mansoniasis. Latent iron deficiency anaemia, defined as those having normal Hb content (greater than 13 g/dl) and low serum ferritin (less than 15 ng/mL). Such latent anaemia was ...
Acosta R - - 1989
The present study describes a case of a 38-year-old nurse with asthma and probable sensitivity to sulfites. A double-blind challenge with sulfite and placebo was performed, pulmonary function tests were measured along with plasma levels of sulfites. A deficiency in sulfite-oxidase is suggested as the trigger mechanism of bronchospasm.
Green P - - 1989
Cases of secondary hemochromatosis caused by excessive iron ingestion are very rare. In most instances there are associated factors known to cause iron overload, such as anemia, alcoholism or the presence of the hemochromatosis allele. We report a patient who developed secondary hemochromatosis, apparently due only to excessive iron ingestion.
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