نتایج جستجو برای: hereditary enzymopathy

تعداد نتایج: 84335  

Journal: :Haematologica 2012
Paola Bianchi Elisa Fermo Cristina Vercellati Anna P Marcello Laura Porretti Agostino Cortelezzi Wilma Barcellini Alberto Zanella

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...

Journal: :Egyptian Journal of Chemistry 2021

G6PD-deficiency is the most prevalent enzymopathy over world and this deficit expected to impact about 400 million individuals worldwide. Africa, Southern Europe, Middle East, including Iraq, have greatest incidence rates in deficiency. Aim of study: The main objective current research study relationship between specific biochemical parameters Covid19 infection associated G6PDD patients Mosul C...

Journal: :international journal of hematology-oncology and stem cell research 0
mehrdad payandeh medical biology research center, kermanshah university of medical sciences, kermanshah, iran mohammad erfan zare medical biology research center, kermanshah university of medical sciences, kermanshah, iran; studen atefeh nasir kansestani medical biology research center, kermanshah university of medical sciences, kermanshah, iran; studen kamran mansouri medical biology research center, kermanshah university of medical sciences, kermanshah, iran; departmant zohreh rahimi medical biology research center, kermanshah university of medical sciences, kermanshah, iran; departmant amir hossein hashemian department of biostatistics, faculty of public health, kermanshah university of medical sciences, kermanshah

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...

Journal: :Oncology nursing forum 2007
Sally Weinrich Srinivasan Vijayakumar Isaac J Powell Julie Priest Cathy Atkinson Hamner Laryssa McCloud Curtis Pettaway

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...

Journal: :گوارش 0
ladan goshayeshi gasteroenterology and hepatology department, faculty of medicine, mashhad university of medical sciences, mashhad, iran aliraza khooie pathology department, mashhad university of medical sciences, mashhad, iran abbas esmaieelzadeh mahla rahmani khorram kambiz akhavan rezayat kamran ghaffarzadegan

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...

Journal: :the archives of bone and joint surgery 0
seyed hosein fattahi masoum department of thoracic surgery, mashhad university of medical sciences, mashhad, iran ali moradi orthopedic research center, mashhad university of medical sciences, mashhad, iran mohammad hosein ebrahimzadeh orthopedic research center, mashhad university of medical sciences, mashhad, iran

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 ...

Journal: :reports of biochemistry and molecular biology 0
reza ebrahimzadeh-vesal tel: +98 4115541221; fax: +98 4115541221 roza azam department of medical genetics, faculty of medicine, tehran university of medical sciences, tehran, iran arvin ghazarian department of medical genetics, faculty of medicine, tehran university of medical sciences, tehran, iran mogge hajesmaeili department of biology, islamic azad university of parand, tehran, iran. najmeh ranji department of genetics, faculty of sciences, islamic azad university, rasht branch, rasht, iran. mohammad reza ezzati faculty of medicine, tehran university of medical sciences, tehran, iran.

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...

Journal: :bulletin of the iranian mathematical society 2015
h. mostafanasab

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

Journal: :genetics in the 3rd millennium 0
fatemeh ahangari zohreh fattahi mahsa fadaee raheleh vazehan ayda abolhassani elham parsimehr

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...

Journal: :The Medical journal of Malaysia 1988
E George N Mohandas G Duraisamy N Adeeb Z A Zainuddin M S Teng R Vimala

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...

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