BACKGROUND The laboratory diagnosis of hereditary spherocytosis commonly relies on NaCl-based or glycerol-based red cell osmotic fragility tests; more recently, an assay directly targeting the hereditary spherocytosis molecular defect (eosin-5'-maleimide-binding test) has been proposed. None of the available tests identifies all cases of hereditary spherocytosis. DESIGN AND METHODS We compare...

introduction: normal homeostasis system has several inhibitor mechanisms in front of the amplifier’s natural clotting enzyme to prevent fibrin clots in the vessels. the main inhibitors of coagulation pathway are antithrombin (at), protein c and protein s. patients with hereditary deficiency of coagulation inhibitors are susceptible to venous thromboembolism (vte). one of the major clinical mani...

PURPOSE/OBJECTIVES To measure knowledge of hereditary prostate cancer in a group of high-risk African American men. DESIGN Cross-sectional, correlational pilot study. SETTING Four geographic sites: Detroit, MI; Houston, TX; Chicago, IL; and Columbia, SC. SAMPLE 79 men enrolled in the African American Hereditary Prostate Cancer Study. METHODS Telephone interviews. MAIN RESEARCH VARIABL...

background: there are no data on familial aggregation of colorectal cancer (crc) in northeastern iran. the aim of this study was to determine the prevalence of early-onset crc and patients suspected for hereditary non-polyposis colorectal cancer (hnpcc) based on the clinical criteria in this area. materials and methods: documents were collected from two hospitals in mashhad regarding 326 inpati...

a seven year-old boy with several painless masses on the ribs and shoulder was referred to our hospital. the masses were so prominent that they prevented the child’s sleep. since the patient had been ridiculed by his friends due to the rib prominences, he had refused to attend school. after clinical and radiological evaluations, the masses were diagnosed as hereditary multiple exostoses of the ...

recurrent pregnancy loss is usually defined as the loss of two or more consecutive pregnancies before 20 weeks of gestation, which occurs in approximately 5% of reproductive-aged women. it has been suggested that women with thrombophilia have an increased risk of pregnancy loss and other adverse pregnancy outcomes. thrombophilia is an important predisposition to blood clot formation and is cons...

in this errata, we reconsider and modify two propositions and their corollaries which were written on epi-retractable and co-epi-retractable modules.

hereditary ataxias are heterogeneous group of neurodegenerative disorders classified mainly into more than 40 autosomal dominant cerebellar ataxias and 50 recessive ataxias. large amount of nearly uncommon subtypes with extensive phenotypic overlap and relatively high rate of abnormal repetitive sequence expansions, such as trinucleotide repeat expansions make diagnostic genetic testing complic...

Since the first description of hereditary ovalocytosis in Malayan aborigines 1 1965, high frequencies of hereditary ovalocytosis have been reported in South East Asia?,3 Biophysical studies showed a strong correlation between increased membrane rigidity and decreased malarial parasite invasion in hereditary ovalocytosis in the Malayan aborigines." The literature currently available describes he...

Hereditary dentatorubropallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder. Clinical and genetic findings in hereditary DRPLA are very similar to those of Huntington's disease (HD). However, it can be differentiated from HD by the pathological findings of dentatorubral and pallidoluysian atrophies and by a lack of prominent atrophy of the striatum at necropsy. The...