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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 ...
Yamshchikov Alexandra V - - 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 ...
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 ...
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 - - 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 ...
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 ...
Malizia Robert W - - 2010
Pernicious anemia can result in significant hematologic and neurologic impairments due to a reduction in cobalamin absorption. Typically thought to be a disease of elderly whites, a growing body of literature has documented the disease in blacks and in younger age groups. We describe a case of a young black ...
Gdynia Hans-Jürgen - - 2008
We illustrate a white caucasian patient with a severe sensorimotor neuropathy due to vitamin B6 hypervitaminosis. The patient used the pendulum to calculate his daily metabolic demands and ingested 9.6g pyridoxine/day. To our knowledge, this is the highest dosage of vitamin B6 administered to humans over prolonged periods of time ...
Ku Lowell T - - 2008
OBJECTIVE: To discuss an additional option for frozen embryos that can be a life-saving alternative. DESIGN: Case report and literature review. SETTING: Academic fertility center. PATIENT(S): A woman with a previous hysterectomy and frozen embryos who had a daughter afflicted with aplastic anemia. INTERVENTION(S): Four thawed multicell embryos were transfered ...
Seerat I - - 2007
Rickets in early childhood has been well documented in the literature. We present a case report on a teenage Somalian boy who had a generalised tonic clonic fit (an unusual presentation of rickets in late childhood) and was diagnosed with vitamin D deficient rickets.
Rezaie Payam P Department of Biological Sciences, Faculty of Science, The Open University, Milton Keynes, MK7 6AA, UK. - - 2007
We present the neuropathology of two cases of variant Creutzfeldt-Jakob disease (vCJD) showing significant vacuolar degenerative alterations specifically affecting brain macrophages/microglia within the thalamus and, to a lesser extent, within the neocortical grey matter. Vacuolar degeneration in these cells was extensive, and likely to be associated with the development of ...
Lotan Tamara L - - 2007
Type 1 plasminogen deficiency is an inherited and potentially life-threatening systemic disease in which patients develop pseudomembranous lesions of mucosal surfaces exposed to minor trauma. It is most commonly clinically encountered as ligneous conjunctivitis. We report the case of a 39-year-old woman with extensive involvement of the female genital tract. ...
Abdallah Claude - - 2007
Fucosidosis is an extremely rare, autosomal recessive lysosomal storage disease, characterized by a deficiency of the lysosomal hydrolase alpha fucosidase. We report a case of a 6-year-old child, diagnosed with fucosidosis type 2, who presented for dental rehabilitation under general anesthesia. Anesthesia was uneventful. Features of fucosidosis are discussed.
Cobo Francesc - - 2007
We report a 59-year-old woman diagnosed with metastasic colorectal cancer who developed immune hemolytic anemia during FOLFOX chemotherapy (oxaliplatin/leucovorin/5-fluorouracil). Immunohematologic studies demonstrated that immune hemolysis was oxaliplatin-mediated. On the basis of this case and in a review of the literature in which 13 cases of previously reported oxaliplatin-induced immune cytopenia ...
Pagano Leonilde - - 2007
Between January 1995 and December 2005, we conducted a screening program for the presence of Hb Neapolis, a rare abnormal Hb variant, in Campania, a region in Southern Italy. Nineteen patients with Hb Neapolis in heterozygosis and six patients with a genetic compound (Hb Neapolis/beta-thalassemia) were identified. Patients with Hb ...
Beyan Cengiz - - 2007
OBJECTIVES: Iron deficiency anemia (IDA) and beta-thalassemia trait (B-TT) are the most common causes of hypochromic microcytic anemias. Many indices have been defined to quickly discriminate these similar entities via parameters obtained from automated blood count analyzers. The purpose of the study was to evaluate the predictive value of these ...
Cogulu Ozgur - - 2007
Macrocephaly describes a head circumference greater than two standard deviations above the mean and is a feature of a number of genetic syndromes. Here we report on two patients with microcephaly, immune deficiency and anemia. In addition, one case had periventricular leukomalacia and the other case had myelinisation delay in ...
Chang Chen-Wang - - 2007
Scurvy is a nearly-forgotten disease in developed countries where adequate nutrition is easily available. It still may occur, however, when, for a variety of reasons, people fail to eat a diet containing adequate vitamin C. We report the case of a 52-year-old patient with depression who developed scurvy.
Cavazzana I - - 2007
Pure red cell aplasia (PRCA) is an acute anemia due to selective suppression of erythropoiesis. We report a case of PRCA diagnosed before the onset of primary Sjögren's syndrome (SS). A young woman, with autoimmune thyroiditis, developed polyarthritis with ANA and Rheumatoid factor positivity, diagnosed as Rheumatoid arthritis. During the ...
Buti Sebastiano - - 2007
We report the case of a 64-year-old patient who developed autoimmune hemolytic anemia with thrombocytopenia and acute renal failure shortly after the infusion of the 11th cycle of adjuvant chemotherapy with oxaliplatin, folinic acid and 5-fluorouracil (FOLFOX 4), and was successfully treated by means of plasmapheresis, corticosteroids and dialysis. To ...
Brenner Benjamin - - 2007
Recombinant-activated factor VII (rFVIIa) represents a therapeutic advance for the treatment and prevention of haemorrhage in patients with the rare bleeding disorder, congenital FVII deficiency. Thirty-nine cases of the use of rFVIIa in 30 patients with congenital FVII deficiency were identified from the international, internet-based registry haemostasis.com, which is a ...
Nevyjel Marco - - 2007
Mevalonate kinase deficiency is a rare inborn disorder of isoprenoid and sterol biosynthesis characterized by a recurrent autoinflammatory syndrome and, in most severe cases, psychomotor delay. Clinical manifestations can be very complex and, in some cases, mimic a chronic inflammatory disease. Diagnosis is also complex and often requires immunologic, genetic, ...
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