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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, ...
Poitou Bernert C - - 2007
In recent years, the recourse to obesity surgery to treat morbid obesities has grown. The number of "malabsorptive" interventions, such as the gastric bypass (RYGB: Roux-en-Y gastric bypass) increases each year. The RYGB, which combines two mechanisms promoting weight loss, restriction and malabsorption, has proven its effectiveness in term of ...
Todd T - - 2006
Severe factor X deficiency (<0.01 IU mL(-1)) is a rare disorder producing a major bleeding tendency including umbilical cord, joint and intracranial haemorrhage. We present the first case of a child homozygous for a g.1177T > C missense alteration, predicted to disrupt the catalytic domain, and resulting in severe FX ...
Mohammadpour M - - 2006
PURPOSE: To report two sisters with bilateral progressive visual loss and photophobia secondary to stem cell deficiency due to multiple endocrine deficiency. METHODS: Case reports and review of medical literature. RESULTS: The younger sister had severe photophobia and decreased visual acuity since May 2000. Despite multiple outpatient visits no definite ...
Meyts Isabelle - - 2006
Immunoglobulin G3 (IgG3) subclass deficiency has received rather little attention thus far. In this report, the clinical and immunologic characteristics of six children with isolated IgG3 deficiency are discussed. The currently available literature on IgG3 deficiency is reviewed with specific emphasis on the peculiarities of the IgG3 subclass, the clinical ...
Bhargava Kartikeya - - 2006
Hereditary protein C deficiency results in a hypercoagulable state that can manifest itself as venous thrombosis and pulmonary embolism. The prevalence of this condition, even among patients with familial thrombosis, is quite low. We report a case of protein C deficiency presenting as massive pulmonary thromboembolism in a patient with ...
Hendron D - - 2006
We report a case of airway difficulties encountered as a result of blistering, oedema and bleeding from the oropharyngeal mucosa of an 85-year-old female undergoing an elective excision of a submandibular neck lump. This led to a delay in extubation by several hours. The patient was subsequently found to have ...
Lins e Horta Henrique de - - 2006
Fanconi's anemia is a rare autosomal recessive disorder characterized by congenital malformation, bone marrow failure and genomic instability, with a predisposition to develop malignancies, especially the leukemias and upper aerodigestive tract tumors. Due to inherent characteristics to this syndrome, the treatment of such neoplasms is particularly difficult. In this paper ...
Olmez Duygu - - 2006
AIM: To establish the frequency and causes of vitamin D insufficiency in healthy female adolescents in Izmir, Turkey. METHODS: 64 adolescents from a low--(Ikinci Inönü) and a high--(Ilica) socio-economic settlement were included. Parents' monthly income was classified as low, middle and high. The blood samples were drawn at the end ...
Sinha Arvind K - - 2006
Fifty (50) cases of Leishmaniasis were included in a prospective study after making the diagnosis based on the demonstration of L D Bodies on bone marrow aspirate. Hemoglobin (Hb) and total leucocyte count (TLC) were less than 10 gm/dl and 4000 per/ml respectively in 22 out of 50 cases. Among ...
Golalipour Mohammad Jafar - - 2006
Neural tube defects (NTD) comprise of a group of congenital malformations that include spina bifida, anencephaly and encephalocele. Reports have implicated zinc deficiency as one of the causative factors of NTDs. We compared the serum zinc level of 23 newborns having neural tube defects with 35 healthy controls by spectrophotometery ...
Panigrahi Inusha - - 2006
Thalassemia intermedia shows considerable heterogeneity. The purpose of this study was to evaluate the prevalence and effect of common molecular determinants in thalassemia intermedia. In 73 cases of thalassemia intermedia, the possible molecular basis was co-existent a-deletions (n=16/50), homozygous XmnI polymorphism (n=17/50), both factors (n=3/50), and milder beta-alleles (n=9/50) in ...
Silva Geisa B L - - 2006
Plasminogen deficiency is a rare, destructive, and badly defined disorder. Recurrent and progressive gingival nodular hyperplasia with ulceration would appear to be an unreported complication caused by this deficiency. In some of the reported cases, gingival hyperplasia occurred in association with an eye disease called ligneous conjunctivitis. Including this case ...
Rutter Michael J - - 2006
Deficient cartilaginous rings are an extremely rare intrinsic tracheal defect. To our knowledge, only two cases have previously been reported in the literature. We describe our experience with three patients presenting with this unusual defect causing severe tracheomalacia who were successfully managed with slide-tracheoplasty. With respect to correction of the ...
Owen David Ryan DR Department of Geriatric Medicine, Area Q111, Queen Elizabeth II Hospital, Howlands, Welwyn Garden City, Hertfordshire, AL7 4HQ, United Kingdom. - - 2006
Polycythemia is a known paraneoplastic manifestation of hepatoma, but only in the presence of alpha-fetopro (AFP). We present a case of polycythemia in the absence of AFP, and suggest concurrent alpha-1-antitrypsin deficiency as the cause for breaking this rule. We also suggest a reason for the apparent constant conjunction between ...
Wilcox Gilbert M - - 2006
GOALS: To describe the association of untreated celiac disease with hyperhomocysteinemia and variants of the methylenetetrahydrofolicacid reductase (MTHFR) gene found in clinical practice. STUDY: Case studies with description of associated clinical, biochemical, and genetic findings and review of literature. RESULTS: Five new cases and 7 additional cases found from literature ...
Nuamah Nabil M - - 2006
Fanconi anemia, an autosomal recessive and X-linked disorder, is known to be associated with a variety of neoplasms. Liver tumors are one of the most frequently observed neoplasms but the association between the two disorders remains obscure. We present a case of a 27-year old female Fanconi anemia patient diagnosed ...
Chou Hsiao-Feng - - 2006
Diphyllobothriasis latum is an intestinal parasitosis caused by the ingestion of mostly raw fresh-water fish containing plerocercoids of Diphyllobothrium latum. We report an 8-year-old boy who came to our hospital with the complaint of a tapeworm hanging from the anus after defecation. The other symptom was mild abdominal cramping for ...
Lin I-Sheng - - 2007
Spinocerebellar ataxia (SCA) 17 is a dominant neurodegenerative disorder characterized by ataxia, cognitive decline, dystonia, and parkinsonism. The disease is caused by unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation coding for polyglutamine tracts in the TATA box-binding protein (TBP), a general transcription initiation factor. Herein, we report a SCA17 case with ...
Deniz Kemal - - 2006
Local deposition of amyloid without systemic involvement is rather uncommon and has been found in many organs. A 67-year- old man was admitted to our hospital presenting with weight loss, fatigue and poor appetite. Blood work and bone marrow examination revealed megaloblastic anemia. Upper gastrointestinal endoscopy reveeled e purple polypoid ...
Remacha Angel F - - 2006
The JAK2/V617F mutation has been noted in essential thrombocytemia. We investigated 19 cases with refractory anemia with ringed sideroblasts (RARS), including three RARS with thrombocytosis (RARS-T). Only the RARS-T patients showed this mutation. More cases need to be analyzed to determine the prevalence of the JAK2/V617F mutation in RARS-T.
Rozin A P - - 2006
We report a rare case of essential mixed cryoglobulinemia type II with membrano-proliferative glomerulonephritis (MPGN) type I in which HCV was not found. Long-term history of palindromic rheumatism, skin leukocytoclastic vasculitis attacks and micro-normocytic anemia preceded the appearance of cryoglobulinemia. Cryoprecipitate consisted of monoclonal IgMk-RF and polyclonal IgG (essential mixed ...
Reyes-Núñez Virginia - - 2006
alpha-Thalassemia (alpha-Thal) has been poorly characterized at the molecular level in Mexico. 106 consecutive individuals identified in Laboratorios Clínicos de Puebla, with either hypochromia (MCH < 24 pg) and/or microcytosis (MCV < 75 fl in women or < 80 fl in man), without iron deficiency, with or without anemia were ...
Kendirci Muammer - - 2006
Accessory scrotum is very uncommon. Here we report a 5-year old Caucasian boy presenting with an accessory scrotum localized to the left side of the pubic area. The penis and the primary scrotum were completely normal, containing two dependent testicles. On the right side of the body there was type ...
Kim Ickkeun - - 2006
Autoimmune hemolytic anemia associated with an ovarian teratoma is a very rare disease. However, treating teratoma is the only method to cure the hemolytic anemia, so it is necessary to include ovarian teratoma in the differential diagnosis of autoimmune hemolytic anemia. We report herein on a case of a young ...
Rodriguez Sandra - - 2007
We describe the clinical presentation and diagnostic tests of a patient with regional transient osteoporosis (RTO) of the foot. This patient presented with a 4-month history of left-foot pain, nonpitting edema, and brownish discolorations of both feet. He had a history of tobacco abuse, alcohol abuse, and malnutrition. Radiological studies ...
Hong Yin-Tai - - 2006
Aristolochic acid-associated nephropathy (AAN) has been identified as a separate entity of progressive tubulo-interstitial nephropathy. Its characteristic pathological findings, including hypocellular interstitial fibrosis, intimal thickening of interlobular and afferent arterioles with glomeruli sparing or mild sclerosis, have been identified. Many cases of AAN in adults have been reported in Taiwan ...
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