Search Results
Results 301 - 350 of 741
< 2 3 4 5 6 7 8 9 10 11 12 >
Kelly Emer - - 2010
To review the topic of alpha-1 antitrypsin (AAT) deficiency. Narrative literature review. Much work has been carried out on this condition with many questions being answered but still further questions remain. AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly. The clinical manifestations, prevalence, ...
Yildiz Baris - - 2010
Antral gastric vascular ectasia is a rare cause of chronic anemia. When encountered, the diagnosis is usually delayed. Endoscopic findings are well established, although radiologic findings are not. Patients respond well to surgery. Our case was of a 62-year-old female with chronic anemia who required multiple blood transfusions and iron ...
Al-Qattan M M - - 2010
Ulnar ray deficiency is rare and has a variable presentation. As a result, there are many different classification systems for this anomaly. Furthermore, the developmental biology of the anomaly is still not fully understood. The aim of this article is to review the previous classification systems, present the clinical features ...
Gazit Yael - - 2010
INTRODUCTION: Leukocyte adhesion deficiency (LAD) is a group of rare inherited disorders characterized by immune deficiency and peripheral neutrophilia. There are only seven reported cases of LAD type II worldwide, and no long-term follow-up data. CASE REPORT: We reviewed the medical file of a 20-year-old man with LAD II. Clinical ...
Win Nay - - 2010
Hyperhemolytic transfusion reaction (HHTR) is a serious and potentially life-threatening complication of red blood cell (RBC) transfusion and has been well described in patients with sickle cell disease (SCD) and non-SCD patients. Awareness of this condition is important because subsequent transfusion may exacerbate hemolysis and may lead to a chronic ...
Paul Siba P - - 2010
Coeliac disease (CD) occurs in individuals sensitive to gluten protein contained in wheat products. It affects at least 1:100 children and may present with extra-intestinal manifestations such as iron deficiency anaemia, short stature and delay in puberty. A case of severe iron deficiency anaemia as a manifestation of CD is ...
Kalotychou Vassiliki - - 2010
A 40-year-old Greek male was admitted to the hospital because of acute respiratory infection. The patient has been undergoing regular venesection for erythrocytosis for 20 years; he has also been taking oral anticoagulants for thrombosis for 15 years. The molecular defect for erythrocytosis was detected together with the rare Hb ...
Gopakumar H - - 2010
It is presently a universal practice to administer vitamin K at birth. Hence, the serious bleeding manifestations from vitamin K deficiency are nowadays very rare. We describe a case of late vitamin K deficiency bleeding presenting as intracranial hemorrhage with impending coning and the related review of literature. Such severe ...
Soudry Shiri S From the *Department of Ophthalmology, Tel Aviv Medical Center, Tel Aviv; †Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv; and ‡Department of Ophthalmology, Sheba Medical Center, Tel Hashomer, - - 2010
To report on two patients with sterile endophthalmitis recurring twice after intravitreal bevacizumab injection. Two cases of sterile intraocular inflammation recurring after repeated intravitreal injections of bevacizumab are described, followed by a review of the literature. Two patients presented with painful eyes and decreased vision associated with endophthalmitis several days ...
Mellington Faye E FE From the *Oxford Eye Hospital, John Radcliffe Hospital, Headington, Oxford, UK; and the †Department of Ophthalmology, Stoke Mandeville Hospital, Aylesbury, - - 2010
To report a case of progressive vitreomacular traction, definitive optical coherence tomography evidence of established vitreomacular traction, and subsequent spontaneous resolution with posterior vitreous detachment occurrence. Case report and literature review. This study involved a patient presenting to the Retina Clinic at Stoke Mandeville Hospital. Symptomatic improvement after posterior vitreous ...
Dziuban Eric J - - 2011
Microscopic polyangiitis (MPA) is an autoimmune systemic vasculitis of small vessels. The condition has been best characterized in older adults and little is known of the natural history of this disease in children and adolescents. In this report, a case of an adolescent presenting with symptomatic anemia and syncopal episodes ...
Todd T - - 2010
The rare inherited coagulation factor deficiencies (deficiencies of factors I, II, V, VII, XI, XIII, combined FV + FVII deficiency, combined deficiency of the vitamin K dependent factors and von Willebrand disease type 3) have an aggregate prevalence of approximately 1:100,000. They may cause recurrent life or function threatening haemorrhage. ...
Mellington Faye E FE From the *Oxford Eye Hospital, John Radcliffe Hospital, Headington, Oxford, UK; and the †Department of Ophthalmology, Stoke Mandeville Hospital, Aylesbury, - - 2009
To report a case of progressive vitreomacular traction, definitive optical coherence tomography evidence of established vitreomacular traction, and subsequent spontaneous resolution with posterior vitreous detachment occurrence. Case report and literature review. This study involved a patient presenting to Retina Clinic at Stoke Mandeville Hospital. Symptomatic improvement after posterior vitreous detachment. ...
Puntambekar Preeti - - 2009
Vitamin B12 deficiency is an important nutritional disorder causing neurological manifestations of myelopathy, neuropathy and dementia. Sub-acute combined degeneration (SCD) with involvement of the posterior columns in the cervical and thoracic cord is a common presentation of this disorder. In this case report, we describe a 43 year old woman ...
Lai Jiun-I - - 2009
OBJECTIVE: To report a case of immune mediated hemolysis occurring after oxaliplatin infusion in a patient with rectal cancer. CASE SUMMARY: We report a 69 year old male patient who presented with acute onset anemia after infusion of oxaliplatin as chemotherapy. A positive direct Coombs test and good response to ...
Saluja S - - 2009
Normocytic anaemia is caused either by hypoproliferation of haemopoietic tissue or increased destruction of red cell. Osteopetrosis is a rare cause of anaemia. The leading clinical features are pallor, growth failure, hepatosplenomegaly.On hematological examination, anemia, thrombocytopenia, leucocytosis and myelophthisic anemia are commonly observed in this disease. We are highlighting osteopetrosis ...
Godbole Koumudi - - 2009
Neural tube defects (NTDs) are one of the commonest birth defects with a high incidence in India. However, few studies have systematically looked into the etio-pathogeneis of NTDs, which mainly includes nutritional deficiencies and genetic predisposition. Efforts are afoot for universal food fortification with folic acid in the hope of ...
Yamshchikov Alexandra V AV Division of Infectious Diseases, Department of Medicine, Emory University-School of Medicine, Atlanta, GA 30303, USA. - - 2009
Vitamin D regulates calcium homeostasis in the body and may play a major role in regulating immune responses to tuberculosis (TB). Pilot studies suggest that vitamin D supplementation may improve outcomes in pulmonary TB (PTB), but clinical evidence using vitamin D in TB treatment is limited. We present a case ...
Brown Jennifer - - 2009
Internationally, there have been isolated case reports published of children presenting with dilated cardiomyopathy (DCM) in the setting of undiagnosed rickets. Although there has been an increased prevalence of rickets in the United States, there has been only one documented case of associated DCM. At our institution, a hospital database ...
Sillery John J - - 2009
Hemolytic anemia and methemoglobinemia are well-known adverse effects that follow ingestion of naphthalene mothballs. They are only rarely reported in association with ingestion of paradichlorobenzene mothballs. An asymptomatic boy presented to our pediatric emergency department after ingesting paradichlorobenzene mothballs. Three daysafter the ingestion, the boy returned with hemolysis and mild ...
Naseem Shano - - 2009
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematologic disorder, characterized by intravascular hemolysis, thrombosis, or bone marrow failure. It is very rare in children. The clinical manifestations are due to deficiency of a family of membrane proteins that are anchored into the cell membrane through glycosylphosphatidylinositol (GPI). Currently, flow cytometric ...
Schuurman Marijn - - 2009
Reduced concentrations of glucose-6-phospate dehydrogenase (G6PD) render erythrocytes susceptible to hemolysis under conditions of oxidative stress. In favism, the ingestion of fava beans induces an oxidative stress to erythrocytes, leading to acute hemolysis. The simultaneous occurrence of methemoglobinemia has been reported only scarcely, despite the fact that both phenomena are ...
Ciantelli M - - 2009
We report the case of a 6-week-old female who presented an intracranial hemorrhage due to late vitamin K deficiency bleeding (VKDB). No other evident bleeding sites were present at the moment of diagnosis. Intramuscular vitamin K (1 mg) was administered at birth. She was exclusively breast-fed. No other risk factors ...
Khan Fahmi Yousef - - 2009
We report a case of severe hemolytic anemia following Mycoplasma pneumoniae infection in a 29-year-old male patient who was treated with azithromycin. Direct Coombs' test was strongly positive and the cold agglutinin titer was high, with anti-I specificity. Antimycoplasma antibody titer by complement fixation was high 1:10,240. The patient was ...
Daher Elizabeth F - - 2009
BACKGROUND: The use of anabolic steroids and vitamin supplements has reached alarming proportions in the last decades. Adverse effects have been documented and include virilization, feminization, adverse lipid profile, psychiatric disorders, cardiac and liver disease. Acute kidney injury (AKI) is not frequently described. The purpose of this study is to ...
Patne Shashikant C U - - 2009
The distribution of hemoglobin E (alpha2beta2 26Glu (R)Lys ) is mostly restricted to Northeastern India. While evaluating the patients of jaundice, we came across two cases of hemoglobin E (Hb E) disorders. The first case is in a 22-year-old Bengali male and the second case of Hb E/beta thalassemia in ...
Nightingale Laura M - - 2009
The link between nutritional status and either optic or peripheral neuropathies is well established with tobacco, ethanol, deficiencies in thiamine, vitamin A, B12, B3 and B6 and protein-energy malnutrition all being causative. We describe the case of a 32-year-old Afro-Caribbean of Jamaican origin presenting with blurred vision and a painful ...
Suzuki Yuhko - - 2009
A 61-year-old Japanese man was referred to our hospital in 2002 due to severe pancytopenia. Bone marrow and peripheral blood findings indicated he had severe aplastic anemia (AA). A whole-body CT scan and Ga scintigraphy revealed no abnormal findings. Antithymocyte globulin and cyclosporine A (CyA) were administered and he got ...
Belgemen Tugba - - 2009
Selective immunoglobulin M (IgM) deficiency is a rare disorder defined by a decreased serum level of IgM and normal levels of other immunoglobulin classes. The disease has not been well described and the cause remains unknown. Patients with IgM deficiency may present with a wide spectrum of clinical manifestations, from ...
Sreejith P - - 2009
Adenine phosphoribosyl transferase deficiency is a rare metabolic abnormality presenting with 2,8 dihydroxyadenine urolithiasis. The stones are characteristically radiolucent and therefore need to be differentiated from uric acid stones which are also radiolucent and have identical chemical reactivity. No cases of 2, 8- dihydroxyadenine urolithiasis have been reported from India. ...
Nyenwe Ebenezer A EA Department of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee 38163, - - 2009
Iodine deficiency disorders (IDD) constitute significant public health problems in parts of the world with poor iodine nutrition, but have been eradicated in North America and other regions. We herein report 3 cases of IDD, which occurred in women living in iodine-replete environments. The clinical presentation, biochemical findings, and radiological ...
Thapa Rajoo - - 2008
We report on an 11-year-old girl with concomitant Ebeta thalassemia (EbetaT) and Wilson disease (WD). She was diagnosed with EbetaT at 2 years of age, but the coexistence of WD could only be established at 11 years. The diagnosis of the later was based on the clinical presentation of hepatitis ...
Nakayama Shoko - - 2008
A 70-year-old man was diagnosed as having rheumatoid arthritis (RA) in 2005. He was treated with 1 g salazosulfapyridine (SASP) daily for two years. Hematological investigations conducted since 2005 demonstrated hemoglobin concentrations of 8 approximately 9 g/dl, which then dropped to 4.9 g/dl on November 21, 2007, following which he ...
Lopes Daniela von Ah DV Unidade de Terapia Intensiva, Hospital IAMADA, Presidente Prudente, SP, - - 2008
Acute intermittent porphyria is an unusual pathology with potentially severe consequences when not early detected. Among the possible causes of porphyric crises decrease of caloric intake has been described. A case of acute intermittent porphyria in the late postoperative period of a bariatric surgery performed for treatment of obesity is ...
Thunga Girish - - 2008
The use of dapsone is increasing even though overdose is rarely reported and physicians must be aware of its toxicity and management. Mortality can occur due to methemoglobinemia and hemolytic anemia. Although activated charcoal and methylene blue are recommended, the use of hemodialysis is reported only in few studies. Literature ...
Wajner Moacir - - 2009
BACKGROUND: The gas chromatography/mass spectrometry (GC/MS) method for organic acid analysis was established in developed countries since 1980s, but due to the small number of experienced clinical biochemists in this field and also the short availability of mass spectrometers scarce reports exist on the prevalence of organic acidemias (OAs) in ...
Tsai Hsien-Lung - - 2008
The use of dapsone is increasing even though overdose is rarely reported and physicians must be aware of its toxicity and management. Mortality can occur due to methemoglobinemia and hemolytic anemia. Although activated charcoal and methylene blue are recommended, the use of hemodialysis is reported only in few studies. Literature ...
Kara Bülent - - 2008
Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive disorder, usually with a phenotype resembling Friedreich ataxia, caused by selective impairment of gastrointestinal vitamin E absorption. Vitamin E supplementation improves symptoms and prevents disease progress. In North Africa and Southern Europe, AVED is as common as Friedreich ataxia. ...
Abu Sham'a R A H - - 2008
Priapism is a rare disorder defined as a persistent penile erection that continues hours beyond, or is unrelated to, sexual stimulation. There are two types of priapism; ischemic low-flow type or non-ischemic high flow, with differing etiologies. Priapism associated with thrombophilia is a well-recognized entity. However, the pathogenesis of this ...
Raina S - - 2008
Alkaptonuria is a rare disorder of metabolism caused by deficiency of homogentisic acid oxidase enzyme and characterized by triad of homogentisic aciduria (dark urine), relentlessly progressive arthritis and ochronosis. We have documented a case with typical features of alkaptonuria along with intramedullary calcification which has not been reported in the ...
Symeonides Panagiotis P - - 2009
From 1985 to 2001, the Burch-Schneider antiprotrusio cage (B-S APC) was implanted in 57 cases (55 patients) with massive acetabular deficiency. The B-S APC survived until the last review 5 to 21 years after operation in 89.5% of the cases, produced substantial pain relief, and increased range of hip motion ...
Vigliano Piernanda - - 2009
Merosin-deficient congenital muscular dystrophy (MD) type 1A (MDC1A) is one of the most frequent forms of CMD in Western countries. The classical form, characterized by a total lack of laminin alpha2 chain expression, usually shows severe clinical features; cases with complete laminin alpha2 deficiency and mild phenotype have also been ...
McPhail Gary Lewis - - 2010
Cystic fibrosis (CF) is the most common life-limiting inherited disease in the Caucasian population. Coagulation disorder in infancy is a rare presentation of CF, with few recent cases reported in the English literature. We report a case of an infant with CF who presented to our hospital with bruising, occult ...
Mellouli Fethi - - 2009
T1D after BMT constitutes a human model of autoimmune disease transmission. This case report refers to T1D onset after allogeneic HLA-matched BMT in a six-yr-old recipient affected by aplastic anemia. The donor was his sister who had T1D. The recipient had a complication free course apart from grade 1 acute ...
Grové J D - - 2008
We report a case of a 51-year-old female presenting with a three-day history of a painful swollen right eye associated with loss of vision. She presented with no light perception in the affected eye, periocular ecchymosis, hemorrhagic chemosis, and an axial proptosis. CT scan revealed a unilateral proptosis with tension ...
Harteveld Cornelis L - - 2008
The Lepore hemoglobins (Hbs) are a group of structural defects resulting from different recombination events between the delta- and beta-globin genes. They may come with different beta-thalassemia (beta-thal) minor-like phenotypes in the carrier and with variably severe phenotypes in the rare homozygote, and in the common compound heterozygote with beta-thal. ...
de Gurrola Gladys Cossio - - 2008
Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. This deficiency is the most common human innate error of metabolism, affecting more than 400 million people worldwide. Here, we present the first documented ...
Douna Varvara - - 2008
This report describes four unrelated Greek patients (one child and three adults) who all had an atypical thalassemia intermedia phenotype, characterized by chronic moderate anemia with mild hemolysis in some cases, and the absence of abnormal hemoglobin (Hb) fractions. DNA analysis identified the inheritance of common alpha(+)-thalassemia (alpha(+)-thal) mutations in ...
Kar Rakhee - - 2008
Raised Hb F is occasionally found in stress erythropoiesis associated with hemolytic anemias. In hereditary spherocytosis (HS), elevation of Hb F by 2-5% may be seen but Hb F in the range of 10-20% has not been reported. We present an interesting case of a child, initially presenting with high ...
Girolami A - - 2008
The presence of more than one congenital clotting defect in a given patient is a rare event but not an exceptional one. Combined defects of factor X (FX) are very rare because congenital isolated FX deficiency is by itself very rare. A perusal of personal files and of the literature ...
< 2 3 4 5 6 7 8 9 10 11 12 >