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Results 401 - 450 of 743
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Bartels Piet C M - - 2006
Microcytic erythropoiesis in case of anemia is frequently due to iron deficiency or may be due to alpha- and beta- thalassemia trait as a result of increased activity of erythropoiesis. The aim of the present study was to evaluate alterations with regard to the degree of hemoglobinization in reticulocytes in ...
Schiff Manuel - - 2006
Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis and anaplerotic pathways in brain. PC deficiency is a rare autosomal recessive neurometabolic disorder with three described characteristic presentations. We report a patient with atypical clinical and neuroradiological aspects. He survived from neonatal lactic acidemia and is alive at 9 years ...
Noronha Vanita - - 2005
We report a case of a 59-year-old woman with metastatic carcinoma of the ileocecal region who received FOLFOX(oxaliplatin/leucovorin/5-fluorouracil) and bevacizumab therapy and exhibited a partial remission with minimal side effects. She developed a mild self-limited episode of immune-mediated hemolytic anemia during her 16th cycle of chemotherapy, which precluded her from ...
Gallagher Renata C - - 2005
Glutaryl-CoA dehydrogenase deficiency (GA-I) is associated with the onset of irreversible, disabling dystonia between 3 and 18 months of age. Presymptomatic identification and treatment can prevent the devastating disability associated with this disorder. We report the retrospective analysis of the newborn blood spot of an affected child with a low ...
Gunasekaran S - - 2005
Internal jugular vein thrombosis is a rare but treatable disorder with most of the reports in the literature related to the adult population. The most common reported cause is iatrogenic trauma to the internal jugular vein and only a few cases have been reported in the paediatric population. We present ...
Kordy Faisal Nayel - - 2005
This report described a 6-month-old boy who presented with miliary tuberculosis and severe CD8 deficiency, which is most likely secondary to miliary tuberculosis since his CD8 was back to normal 6 month after therapy and primary CD8 deficiency, (ZAP 70 defect) was ruled out. To our knowledge this is the ...
Hamerschlak Nelson - - 2005
CONTEXT AND OBJECTIVE: Aplastic anemia and agranulocytosis are rare but life-threatening disorders, often caused by drugs and other environmental exposures. Reported incidence of these diseases seems to vary between different geographic regions, and few data on their incidence are available for Latin American countries. The aim of this work is ...
Dixit Ashish - - 2005
Therapeutic approaches are not well established in patients with myelodysplastic syndrome (MDS). We evaluated response to cyclosporin A (CyA) in 19 cases with MDS who were enrolled for the study [13 refractory anemia (RA), 5 refractory anemia with excess of blasts (RAEB), and 1 refractory anemia with ringed sideroblasts (RARS)]. ...
Durodoye Oluyemisi M - - 2005
OBJECTIVE: To report 5 cases of empty sella syndrome (ESS) manifesting with various degrees of pituitary dysfunction. METHODS: We describe the initial manifestations in 5 patients with primary ESS and in previous cases of ESS reported in the English language literature. RESULTS: Review of our recent medical records identified 5 ...
Billing K J - - 2005
PURPOSE: Idiopathic sclerosing orbital inflammation (ISOI) has been categorized by some authors as a unique clinicopathologic entity, separate from the heterogeneous group of disorders known collectively as nonspecific orbital inflammation. Histologic similarity and clinical association with other fibrosclerosing conditions has been shown. The authors present a case of ISOI in ...
Parikh Tushar B - - 2005
Fanconi's anemia (FA) is a paradigm for congenital anomalies, aplastic anemia and predisposition to malignancies. Identification of the disease at birth is based on characteristic physical malformations, as hematologic manifestations at birth are extremely rare. We report a case of FA in a newborn who presented with anophthalmia, unilateral radial ...
Kawasaki Yukihiko - - 2005
Selective IgA deficiency associated with glomerulonephritis is rare and no previous reports in childhood have been made of the association of IgA deficiency and membranous glomerulonephritis (MGN). We report a 5-year-old boy with selective IgA deficiency and MGN. He presented with nephrotic syndrome. Percutaneous renal needle biopsy showed diffuse global ...
Vicente-Gutiérrez María Pilar - - 2005
Hereditary xerocytosis is a rare hemolytic anemia in which erythrocytes are dehydrated due to a loss of potassium and water through their cell wall membrane. In adults, this condition leads to a mild-to-moderate hemolysis. We report a case of hydrops fetalis secondary to hereditary xerocytosis. Management with intrauterine erythrocyte and ...
Kumar Vijay - - 2005
Erythroid hypoplasia in myelodysplastic syndrome (MDS) happens to be a rare association and is being recognized as a distinct clinico pathological entity. We report here two such cases diagnosed as Refractory anaemia (RA) and Refractory anaemia with excess blast (RAEB) who had marked suppression of the erythroid cell lines. Both ...
Evens Andrew M - - 2005
In 2002, investigators from France reported 13 patients in whom pure red cell aplasia developed during treatment with recombinant human erythropoietin (epoetin). We reviewed 208 cases of this syndrome reported worldwide. Adverse event reports describing suspected and confirmed cases of epoetin-associated PRCA in websites maintained by the manufacturers and distributors ...
Oude Luttikhuis H G M - - 2005
Since the introduction of neonatal screening for branched-chain organic acidurias, it has been noted that isolated 3-methylcrotonyl-CoA carboxylase deficiency is probably one of the most frequent organic acidurias. Only a few cases with severe clinical presentation have been described. Profound hypoglycaemia is an uncommon but life-threatening complication.
Sketchley Mara - - 2005
Two case studies are used to illustrate the importance of balancing the postsurgical achievement of high-level visual acuity with the acquisition of stereopsis in cases of unilateral cataract. Traditional management will be reviewed and limited occlusion therapy will be discussed. A structured occlusion regime that allows for increased binocular opportunity ...
Sennekamp J - - 2004
Up to now only 3 cases of extrinsic allergic alveolitis (hypersensitivity pneumonitis) with IgA deficiency have been published worldwide. We had the opportunity to detect two additional cases which will be presented here. Summarizing all cases IgA deficiency is a risk factor for a severe course of the disease and ...
Akaogi Jun - - 2004
The case of a 27-year-old woman who simultaneously presented with SLE and severe refractory thrombotic microangiopathic hemolytic anemia (TMHA) is reported. She had extremely high levels of platelet-associated IgG (PAIgG), and her TMHA was refractory to plasma exchange and corticosteroid therapy. However, the TMHA was effectively controlled by i.v. cyclophosphamide ...
Ogunlesi T A - - 2004
We report four cases of childhood ataxia with and without encephalopathies which were successfully managed with thiamine supplementation and diagnosed in retrospect as being caused by thiamine deficiency. The clinical presentations were similar to those previously reported amongst adolescents and adults who ingested the larvae of Anaphe venata, a local ...
Suzuki Nuiko - - 2004
Beta-mannosidosis is a lysosomal disorder which is caused by a deficiency of beta-mannosidase. This disorder was first described in goats. Twelve human cases have already been reported. We present the first case in Japan in whom the diagnosis was reached from angiokeratoma corporis diffusum. Futhermore, mental retardation, hearing loss, and ...
Marinaki A M - - 2004
A deficiency of adenylosuccinate lyase (ASDL) is characterised by the accumulation of SAICAriboside (SAICAr) and succinyladenosine (S-Ado) in body fluids. The severity of the clinical presentation correlates with a low S-Ado/SAICAr ratio in body fluids. We report the first British case of ADSL deficiency. The patient presented at 14 days ...
Balasubramanian Meenakshi - - 2004
Angiodysplasia of gastrointestinal tract is still thought to be an entity of unknown aetiology. This lesion is most commonly observed in elderly patients presenting with severe and persistent iron deficiency anaemia, following occult blood loss or acute episodes of haematemesis. In the stomach antral vascular ectasia is the most common ...
Amarapurkar D N - - 2004
Gastric antral vascular ectasia (GAVE) syndrome is an uncommon cause of chronic gastrointestinal bleeding and iron deficiency anaemia. We describe two cases of GAVE, one pernicious anaemia related and the other portal hypertension related. In both the cases, progressive mucosal changes, which lead to development of GAVE, were documented. Those ...
Moretti Rita - - 2004
In cross-sectional studies, low levels of folate and B12 have been shown to be associated with cognitive decline and dementia Evidence for the putative role of folate, vitamin B12 in neurocognitive and other neurological functions comes from reported cases of severe vitamin deficiencies, particularly pernicious anemia, and homozygous defects in ...
Maj Stanisław - - 2004
BACKGROUND: Metamizole is a common analgesic and antipyretic drug. However, its use has been associated with a risk of side-effects involving agranulocytosis and aplastic anemia. These reactions are rare and unpredictable. The aim of this prospective study was to evaluate the risks of these complications in Poland, where this medication ...
Hamilton J W - - 2004
Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme of the pentose phosphate shunt pathway a major function of which is to prevent cellular oxidative damage. Deficiency in red blood cells is associated with a number of varied clinical manifestations. Chronic non-spherocytic haemolytic anaemia is uncommon but is usually characterized by chronic haemolysis, ...
Islam M A - - 2004
An 18 year old boy presented with small genitalia, failure of eruption of secondary sex hairs, female like voice with eunachoid body habitus, bilateral gynecomastia, infantile external genitalia, small testes and poorly developed musculature. He was diagnosed as a case of 47XXY Klinefelter syndrome on the basis of hormone assay ...
Zarina L - - 2004
Factor VII deficiency is a rare congenital blood disorder. Its clinical features are rather variable and ranges from epistaxis to massive intracranial haemorrhage. Treatment involves replacement therapy, which constitutes use of fresh frozen plasma, prothrombin complex concentrates or recombinant activated factor VII. Although it is a rare entity, one still ...
Chhotray Guru Prasad - - 2004
Five hundred and 20 cases (279 males; 241 females), referred for anemia, with a wide age range, from different parts of the state of Orissa, India, were investigated to evaluate the extent of the prevalence of hemoglobinopathies (sickle cell disorders and thalassemias) by analyzing the associated hemoglobin (Hb) profiles, Hb ...
Mansouritorgabeh H - - 2004
Of the six types of dual coagulation factors deficiency, combined factors V and VIII are the most common type, a few cases of this disease have been reported in different populations. This accounts for the relatively low number of cases reported so far. Our report, which included 19 patients, is ...
Klein Moti - - 2004
Acute thiamine deficiency, an uncommon cause of hemodynamic instability in Western countries, may be manifested by acute heart failure and neurological deficits. Severe metabolic acidosis is one of its least recognized features. We present a report of foreign workers who complained of weakness and lower limb edema and were found ...
Bajracharya B L - - 2004
Hereditary spherocytosis is a congenital haemolytic anaemia due to defect in spectrin-a RBC membrane protein and is transmitted as autosomal dominant. Due to this defect there is presence of characteristic spherical cell in peripheral blood smear and osmotic fragility is increased. Haemolytic anaemia, reticulocytosis, jaundice and splenomegaly are present. This ...
Altintaş Engin - - 2004
Dydrogesterone, similar to women's natural progesterone, has been used in a wide range of gynecological conditions. Despite its widespread use, dydrogesterone-induced hepatotoxicity and dydrogesterone-induced hemolytic anemia have, to the best of our knowledge, never been reported previously. We describe a case of hepatitis and warm antibody hemolytic anemia due to ...
Tyagi S - - 2004
Haemoglobin E beta thalassemia (HbE beta thalassemia) has a remarkable variability in clinical expression ranging from a mild form of thalassemia intermedia to a transfusion dependent condition. An overlap between the mild variety of HbE beta thalassemia and homozygous HbE disease is common, however, differentiation is required for early institution ...
Bourhama Mona H - - 2004
We present the case of three sisters with Diamond-Blackfan anemia (DBA) from a consanguineous marriage. These sisters presented within the first 2 months of age with anemia without hepatosplenomegaly together with complete blood count and bone marrow pictures compatible with the diagnosis of DBA syndrome. They were given blood transfusions ...
Saladi S M - - 2004
We describe case report of a baby with Diamond-Blackfan anemia, who presented as non-immune hydrops fetalis. The diagnosis was confirmed by measurement of red cell adenosine deaminase activity which is increased in Diamond-Blackfan anemia. At 2 years of age he is dependent on small dose of alternate day steroid to ...
Vuylsteke Peter - - 2004
A 61-year-old eutrophic male was diagnosed with vitamin B12 deficiency and megaloblastic anemia. A modified Schilling test suggested intestinal malabsorption unrelated to intrinsic factor deficiency. Subsequent colonoscopy revealed the presence of a Taenia tapeworm. The anemia resolved within days under therapy with niclosamide and temporary vitamin B12 supplements. The present ...
Elmusa Kusai - - 2004
A successfully excised right atrial myxoma arising from the suprahepatic segment of the inferior vena cava associated with asplenia, cutaneous manifestations, and iron deficiency anemia is reported. This report documents the unusual origin of myxoma, along with asplenia. A thorough review of the literature revealed only one other patient with ...
Abudu Ntei - - 2004
INTRODUCTION: This review focuses on the process of arteriosclerosis arising from oxidative stress on lipoproteins and the general failure of randomized human trials using vitamins to retard this process. REVIEW: As well as clinical trials, the paper reviews the mechanisms by which a variety of oxidants act. Antioxidants are discussed, ...
Tierney Emily P - - 2004
Necrolytic migratory erythema (NME) is a characteristic skin condition seen in the presence of a pancreatic glucagonoma. The presence of NME in the absence of a pancreatic tumor has been termed the pseudoglucagonoma syndrome. In such cases, NME is commonly associated with conditions, such as liver disease, inflammatory bowel disease, ...
Rivard G E - - 2003
Immunoadsorption is occasionally used as an adjuvant measure in the treatment of subjects with coagulation factor inhibitors. We reviewed our recent 3-year period experience with this procedure in 10 subjects. Immunoadsorption was used in the context of an immune tolerance protocol for 3 subjects with severe congenital deficiency in factor ...
Yoshimura Makoto - - 2003
A man with a 20-year history of recurrent iron-deficiency anemia complicated by Helicobacter pylori-positive Ménètrier's disease was observed over a 10-year clinical course, during which time he was successfully treated for the anemia and a gastric Helicobacter pylori (H. pylori) infection through eradication. Considering the satisfactory therapeutic results in this ...
Hemachandran Manikkapurath - - 2003
Filariasis is a common public health problem in various regions of Indian subcontinent. There are many reports describing detection of microfilaria in different organ systems. There are limited number of reports available describing the presence of microfilaria in bone marrow. Here we report a young patient who developed aplastic anaemia ...
Zaffanello Marco - - 2003
We report the case of a child with partial biotinidase deficiency and autistic developmental disorder. We arrived at the diagnosis of biotinidase deficiency when the child was almost 4 years of age. Consequently, he began cofactor biotin treatment (10 mg daily) which did not resolve his autistic behavior. His younger ...
Heimpel Hermann - - 2003
Congenital dyserythropoietic anemia type II (CDA II) is the most frequent type of congenital dyserythropoietic anemia. More than 200 cases have been described, but with the exception of a report by the International CDA II Registry, these reports include only small numbers of cases and no data on the lifetime ...
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 ...
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