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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 - - 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 ...
Nayak Surajit - - 2006
A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. He was treated with parenteral vitamin D3 ...
Tavil Betül - - 2006
A 14-month-old boy was referred to our hospital for evaluation of severe anemia. In the bone marrow aspiration smear, normal cellularity with severe erythroblastopenia (3%) was observed. The hemoglobin electrophoresis of the patient and his father were compatible with the beta-thalassemia trait. Because macrocytosis of Diamond-Blackfan anemia (DBA) is masked ...
Fox Leanne M - - 2006
A case of transfusion-associated neonatal babesiosis is presented. Jaundice, hepatosplenomegaly, anemia and conjugated hyperbilirubinemia developed in this preterm infant. The diagnosis was eventually made by blood smear, serology and polymerase chain reaction. The patient was treated with clindamycin and quinine and made a favorable recovery. Of neonatal babesiosis reported in ...
Murphy R L - - 2006
INTRODUCTION: The authors report a case of three brothers. Two of these siblings presented with congenital growth hormone deficiency and Chiari I malformation. The third and younger brother has been found not to have growth hormone deficiency or the Chiari I malformation. RESULTS: Sparse cases of these two clinical occurrences ...
Yazici A C - - 2006
Isotretinoin (13-cis-retinoic acid) is one of the synthetic retinoids derived from vitamin A. Vitamin A derivatives demonstrate virucidal activity, both in vivo and in vitro. Isotretinoin has been used for the treatment of recurrent herpes simplex with encouraging results. However, we present a case with frequent attacks of herpes labialis ...
Saritas Ulku - - 2006
In Castleman disease, also known as giant lymph node hyperplasia, lesions are usually located in the chest. Peliosis hepatis is the presence of multiple blood-filled cysts in the liver. The combination of these two disorders in one patient is rare, with only three cases reported to date. We report the ...
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 ...
Sketchley Mara - - 2005
Background and Purpose: 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 ...
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.
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 ...
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