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Locatelli Francesco - - 2003
Pure red cell aplasia (PRCA) is a rare condition defined as severe anemia secondary to the virtual absence of red blood cell precursors in the bone marrow. In the setting of patients treated with rHuEPO, the disease is generated by epoetin-induced antibodies that neutralise all the exogenous rHuEPO and cross-react ...
Batra Vineeta Vijay - - 2003
We report the case of a three year old female child with combined occurrence of von Willebrand's disease and factor XIII deficiency, an extremely rare combination. The patient presented with prolonged bleeding following cuts and wounds. Clot solubility test using 5M urea was positive. Platelet aggregation using ristocetin was reduced, ...
Rubio-Gozalbo M E - - 2003
AIM: Carnitine-acylcarnitine translocase (CACT) deficiency is an inborn error of metabolism involving the mitochondrial beta-oxidation of long-chain fatty acids. The aim of this study was to report on a new case (neonatal phenotype) and review the literature data on 24 previously reported cases. METHODS: Clinical data of the new case ...
Marles Sandra L - - 2003
Humeral "bifurcation" due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these limb deficiencies. The family history was unremarkable, but he was exposed prenatally to cocaine at the time of limb development. Humeroradial synostosis with ulnar aplasia has ...
Axt-Gadermann M - - 2003
BACKGROUND: X-linked recessive ichthyosis (XRI) is a relatively common genetic disorder of keratinization caused by deficiency in steroid sulfatase (STS) activity. STS appears to play an important role in testosterone metabolism. Therefore it has been discussed that the presence of normally functioning STS may be a presupposition for the development ...
Cid J - - 2003
To evaluate the current use of the DAT in our hospital,we reviewed the charts of all patients who had a DAT performed in our laboratory. The collected data included DAT results and a previously completed laboratory evaluation of suspected hemolytic anemia. Four hundred sixty-three DATs were performed in our laboratory ...
Gutierrez Oliver - - 2003
Emphysematous gastritis is a life-threatening disease. It is characterized by the presence of gas within the wall of the stomach. The etiology includes firstly infections with gas-forming organisms; other predisposing causes are the ingestion of corrosive substances and alcohol abuse. Diagnosis is based on radiological techniques, mainly computed tomographic scan ...
Merriman M - - 2002
Fanconi anemia or pancytopenia is an autosomal recessive condition presenting with a combination of pancytopenia with a mean age of onset of about eight years, a tendency to leukemia, and congenital anomalies. Although ocular abnormalities have been described, cataracts have not been previously reported. We present a patient with proven ...
Mihailidou Helen - - 2002
This is a case report of an otherwise healthy 2-year-old boy with a history of pica, associated with iron deficiency anemia. This boy was referred to our department for a neurologic evaluation because of an acute episode of sialorrhea, difficulty in speaking, dysphagia, and repeated swallowing movements. An uncertain episode ...
Oliveira Neide I S S - - 2002
We report a case of Fanconi anemia in which cytogenetic analysis of bone marrow (BM) samples revealed two distinct karyotypes: 46,XY,dup(1)(q21q42), in the first sample and 46,XY,del(1)(q32) in the second, aspirated 7 months later after acute myeloid leukemia (AML) developed. We discuss the cytogenetic clonal fluctuation common in Fanconi anemia, ...
Pavithran K - - 2002
A case of Fanconi's anemia presenting for the first time at the age of 23 years is described. He died of adenocarcinoma of the stomach 4 months later. As far as the authors are aware, this is the second case of adenocarcinoma of the stomach occurring in Fanconi's anemia. As ...
Herschel Marguerite - - 2002
Despite recent case reports of bilirubin encephalopathy in African American glucose-6-phosphate dehydrogenase (G6PD)-deficient neonates, there is a misconception that, in African Americans, G6PD deficiency need not be considered in the differential diagnosis of hyperbilirubinemia. We present a case of a hyperbilirubinemic African American female neonate in whom coexisting G6PD deficiency ...
Al-Onaizi Iman - - 2002
OBJECTIVES: To describe a case of Meckel's diverticulum with an unusual complication of iron deficiency anaemia due to chronic intestinal bleeding. CLINICAL PRESENTATION AND INTERVENTION: A 12-year-old boy presented with bloody diarrhoea and abdominal pain in association with a long-standing history of black stools and progressive pallor. Biochemical tests revealed ...
Berlucchi Marco - - 2002
The presence of coagulation pathology in children who are candidates for adenotonsillectomy (AT) is a challenge to the otolaryngologist. von Willebrand's disease (vWD) is the most common hereditary coagulopathy and is due to a quantitative and/or qualitative deficiency of von Willebrand's factor (vWF). In recent years, the administration of 1-deamino-8-D-arginine ...
Symeonidis A - - 2002
Ticlopidine-induced aplastic anemia (TIAA) is considered very uncommon. We present two new cases, and we review 55 additional cases from the literature. The first case concerns a 70-year-old man who developed severe aplastic anemia 7 weeks after treatment with 500 mg of ticlopidine daily. The patient sustained a severe septic ...
Perafán-Riveros Claudia - - 2002
Acrodermatitis enteropathica (AE) is a rare hereditary disorder caused by impaired absorption of zinc from the gastrointestinal tract. It is characterized by acral and periorificial dermatitis, alopecia, and diarrhea. Symptoms usually begin on weaning from breast or formula feeding. We report a full-term, 21-month-old boy with typical skin lesions and ...
Timan Ina S - - 2002
Indonesia consist of many island inhabited by many ethnic groups with different social economic condition. As in other parts of the world, anemia is still one of the major health problem in Indonesia. The reported anemia prevalence differs in each area and age groups, ranging from 5.4% in well nourished ...
Albayram Sait - - 2002
Citrullinemia is a rare autosomal recessive inborn error of the urea cycle due to a deficiency in argininosuccinic acid synthetase. We present two cases of the infantile form of citrullinemia in which CT revealed bilateral and symmetric corticosubcortical hypoattenuating areas, ulegyric changes, and atrophy in the frontal lobes, as well ...
Ristic J M E - - 2002
Two dogs were referred for investigation of lethargy and anaemia. Preliminary examinations by the referring veterinary surgeons had revealed severe anaemia, which was poorly regenerative. In one case, the anaemia was microcytic and, in the other, it was hypochromic. These findings were suggestive of chronic blood loss anaemia. Neither dog ...
Hilmi F A - - 2002
We attempted to characterize biochemically glucose-6-phosphate dehydrogenase (G6PD) variants in Iraqi individuals. Thus 758 healthy Iraqi males aged 18-60 years were randomly selected and 46 (6.1%) were G6PD deficient. Although the predominant non-deficient G6PD phenotype was G6PD B (92.6%), G6PD A+ was found in polymorphic frequency (1.3%). In the deficient ...
Gnanou J V - - 2001
Galactosemia is a rare inborn error of metabolism, which if detected can be treated effectively. Galactosemia can occur due to the deficiency of either galatose-1-phosphate uridyl transferase (GLUT) or galactokinase. Both these deficiencies have their characteristic presentation. In this case report we describe a 4-month-old infant who presented with clinical ...
Yu Y - - 2001
In this series of 65 cases of aplastic anemia, 26 cases were treated by the kidney-tonifying and mediating method, 19 cases by western drugs, and the remaining 20 cases only by tonifying the kidney as controls. The results showed that the kidney-tonifying and mediating method was significantly superior in the ...
Mukhopadhyay S - - 2001
Factor X (FX) deficiency is a rare coagulation disorder that usually presents with bleeding manifestations and is treated with fresh frozen plasma or prothrombin complex concentrates. We report a case of FX deficiency in which the patient presented with bleeding as well as thrombosis. The patient responded to Danazol and ...
Jansen T - - 2001
Rosacea fulminans is a rare variant of rosacea conglobata that occurs almost exclusively in women well past adolescence. The aetiology is unknown, although immunological, hormonal, and vascular factors have been suggested. We report the case of a 17-year-old girl with rosacea fulminans that was temporally associated with daily ingestion of ...
Savasta S - - 2001
Three cases of Leigh disease are described. In all three, symptoms began in the first months of life, with muscle hypotonia, lactic acidosis, and psychomotor delay. The diagnosis was made on the basis of the clinical characteristics, biochemical abnormalities, and typical brain magnetic resonance imaging with symmetric lesions suggesting bilateral ...
Elpeleg O N - - 2001
Carnitine palmitoyl transferase (CPT) II deficiency is usually manifested around puberty by exercise induced myoglobinuria. Two Ashkenazi Jewish sibs with the rare antenatal form of CPTII deficiency are reported. On the 5th gestational month periventricular calcifications and markedly enlarged kidneys were found in both of them. The activity of CPTII ...
Rutledge S L - - 2001
Glycogen synthase deficiency is a rare inborn error of metabolism, characterized by fasting hypoglycemia, hypoglycemic seizures, and ketonuria. Only 7 families with 14 affected children have been reported. Here, we report an additional patient with this deficiency. Findings in this patient were clinically and biochemically consistent with those reported in ...
Fralic J - - 2001
This article reviews the physiological and nutritional changes associated with aging and provides the case manager with nutrition resources. General information on nutritional factors associated with aging, including common nutrient deficiences, is outlined. The dietitian's role in nutrition assessment, intervention, and outcomes is discussed. A list of resources for case ...
Conceição F L - - 2001
The importance of growth hormone (GH) deficiency in adults became evident 10 to 15 years ago, when the first clinical studies on GH replacement therapy in adults were published. Since then, a number of studies have been reported showing that GH replacement therapy can improve this condition. Adult GH deficiency ...
Low-Beer D - - 2001
This article presents discussion on two issues: the distribution of early cases of acquired immune deficiency syndrome (AIDS), and the epidemiological conditions for the establishment of new diseases. Evidence from four presentations on early AIDS cases is discussed, together with issues of interpreting association and inferring causation. In the second ...
Jani P G - - 2001
Plummer Vinson syndrome is characterised by dysphagia, iron deficiency, anaemia and oesophageal web or webs. This is a case report of a 33 year old Asian female who presented with slowly progressive dysphagia and a long history of iron deficiency anaemia. The anaemia was confirmed on repeated haemograms and a ...
Debourdeau P M - - 2001
OBJECTIVE: To report a case of eosinophilic pleuropericarditis resulting from concomitant use of vitamins B5 and H. CASE SUMMARY: A 76-year-old white woman was admitted to the hospital because of chest pain and dyspnea related to pleurisy and a pericardial tamponade. This patient had no history of allergy and had ...
Wang P L - - 2001
Very few cases of rheumatoid arthritis combined with pernicious anemia have been reported in the world literature and none in the Chinese literature. A 62-year-old female initially presented with anemia. Pernicious anemia was diagnosed by characteristic blood and bone marrow morphology. Laboratory data showed a deficiency of vitamin B12 and ...
Leung A K - - 2001
Iron deficiency anemia is the most common cause of anemia worldwide and results from inadequate iron supply for erythropoiesis. Iron deficiency is most prevalent during periods of rapid body growth: in infancy and again at puberty. Insufficient intake accounts for most cases. The clinical manifestations of iron deficiency anemia can ...
Fargion S - - 2000
Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed ...
Lorey F - - 2000
This study reviews Asian immigration in California and the effect it has had on public health in the state in terms of genetic disease detection. This is documented in terms of the numbers of cases of thalassemia detected, including Hemoglobin (Hb) E/beta-thalassemia, beta-thalassemia major, and Hb H disease. California has ...
Lin K L - - 2000
All dystrophin-associated proteins contain sarcoglycan complex. Different forms of muscular dystrophy are caused by defective expression of different proteins of this structure. gamma-Sarcoglycan deficiency muscular dystrophy, so-called severe childhood autosomal recessive muscular dystrophy (SCARMD), is a rare disease that has not been previously reported in Taiwan. This paper describes two ...
McBride K L - - 2000
6-thioguanine (6TG) is undergoing investigation for use in the maintenance phase of acute lymphoblastic leukemia (ALL). Just as with 6-mercaptopurine (6MP), it is be expected that 6TG would cause pancytopenia in individuals with inherited thiopurine methyltransferase (TPMT) deficiency. We report the first case of severe and prolonged pancytopenia caused by ...
Bruno G R - - 2000
Ingestion of long-acting anticoagulant rodenticides such as brodifacoum can lead to prolonged and life-threatening coagulopathy. A paucity of conflicting information is available on brodifacoum's half-life and elimination pharmacokinetics. In addition, the optimal dose, duration, and route of administration of vitamin K(1) therapy are unknown. We report the case of a ...
Coors E A - - 2000
About 50% of cases of pyoderma gangrenosum (PG) are associated with a variety of systemic diseases. We describe a patient with severe PG on both legs who suffered from an autoimmune haemolytic anaemia in association with a congenital deficiency of complement factors C2 and C4. To the best of our ...
Lutfi S A - - 2000
Two children with idiopathic pulmonary haemosiderosis are reported. These are the first cases of this disease from Saudi Arabia and highlight the diagnostic problem caused by their presentation as cases of iron deficiency anaemia. The aetiopathogenesis, clinical presentation, diagnosis and management are discussed. The attention of paediatricians is drawn to ...
Beatty M E - - 2000
Fructose-1,6-diphosphatase (FDPase) deficiency is characterized by episodes of lactic acidemia, hypoglycemia, and ketonuria. Liver biopsy and subsequent enzyme analysis most reliably make the diagnosis. Review of the literature reveals 85 cases. Glycerol intolerance syndrome (GIS) is less well defined. There are only a handful of cases reported. We describe a ...
Kaper B P - - 2000
Nutritional rickets, the classic form of vitamin D-deficiency rickets, is rarely seen in the setting of modern medicine. We report four cases of nutritional rickets diagnosed at the time of orthopedic evaluation at our institutions during a 3-year period. All patients were referred by their pediatricians for evaluation of bowlegs. ...
John M - - 2000
A case of mesangioproliferative glomerulonephritis in a 55-year-old woman with selective IgA deficiency and serum antinuclear antibodies who presented with nephrotic syndrome is described. The patient did not have clinical or laboratory features of systemic lupus erythematosus (SLE) other than antinuclear antibodies. Histology of the patient's renal biopsy revealed a ...
Taher A - - 2000
We report here a case of ticlopidine-induced aplastic anemia that responded to G-CSF and review the literature. An 83-year-old woman was started on ticlopidine for coronary artery disease after an episode of upper gastrointestinal bleeding secondary to aspirin. She developed aplastic anemia seven weeks after initiation of ticlopidine. She was ...
Biagi E - - 1999
BACKGROUND AND OBJECTIVE: Not all cases of autoimmune hemolytic anemia (AIHA) are diagnosed by the direct antiglobulin test (DAT). We present and discuss a simple method of enhancing the sensitivity of the standard DAT. DESIGN AND METHODS: We report the case of a five-month-old child diagnosed with a severe IgG-mediated ...
Morgan L W - - 1999
Anemia due to cobalamin deficiency is a rare genetic disorder that has been recognized in dogs only recently. This report concerns a 14-month-old border collie that presented for chronic, nonregenerative anemia. Cytological examination of a peripheral blood smear showed the presence of erythroblasts. Serum cobalamin levels were below reference ranges ...
Sayinalp N - - 1999
Effort thrombosis of the axillary-subclavian vein (Paget-Schroetter syndrome) develops usually secondary to heavy arm exertion. An underlying chronic venous compressive anomaly at the thoracic outlet or intimal damage of the axillary vein following forceful hyperabduction, external rotation of the shoulder joint has been proposed to explain the pathophysiology of this ...
Muldoon C - - 1999
Sucrase-isomaltase deficiency is a rare disorder usually manifested as diarrhea in infancy. The presentation of such a deficiency in adulthood is even more rare, particularly when the individual has no history of childhood diarrhea. After a literature search, the 59-yr-old patient we report is the oldest to have been identified ...
Garratty G - - 1999
Second- and third-generation cephalosporins, especially cefotetan, are increasingly associated with severe, sometimes fatal immune hemolytic anemia. We noticed that 10 of our 35 cases of cefotetan-induced hemolytic anemias were in patients who had received cefotetan prophylactically for obstetric and gynecologic procedures. Eight of these cases of severe immune hemolytic anemia ...
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