Browsing Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu by Language "en"
Now showing items 21-40 of 1961
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A Comparative Study of Alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests That The Hypoglycosylation of Alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity
(Wiley, 2009)Hypoglycosylation of alpha-dystroglycan underpins a subgroup of muscular dystrophies ranging from congenital onset of weakness, severe brain malformations and death in the perinatal period to mild weakness in adulthood ... -
A Comparison Of Bone Mineral Density In Adolescent Swimmers, Pentathletes And Figure Skaters
(2019)Physical activity accounts for up to 17% of the variance in bone mineral density (BMD). Specifically, weight bearing exercises are of critical importance in increasing BMD. The aim of the present study was to evaluate the ... -
A Comparison of Results of 3-Dimensional Gait Analysis and Observational Gait Analysis in Patients With Knee Osteoarthritis
(Turkish Assoc Orthopaedics Traumatology, 2015)Objective: This study aimed to investigate levels of validity, and inter- and intra-observer reliability of observational gait analysis (OGA) in clinical usage, done by the physical therapists with varying clinical experience, ... -
A Complex Splicing Defect Associated With Homozygous Ankyrin-Deficient Hereditary Spherocytosis
(Amer Soc Hematology, 2007)Defects in erythrocyte ankyrin are the most common cause of typical, dominant hereditary spherocytosis (HS). Detection of ankyrin gene mutations has been complicated by allelic heterogeneity, large gene size, frequent de ... -
A Comprehensive Framework Identifying Readmission Risk Factors Using The Chaid Algorithm: A Prospective Cohort Study
(Oxford Univ Press, 2018)Objective: To identify frequency of readmission after discharge from internal-medicine wards, readmission risk factors, and reasons and costs of readmission. Design: Prospective cohort study. Setting: A tertiary-care ... -
A Comprehensive Molecular Study on Coffin-Siris And Nicolaides-Baraitser Syndromes Identifies A Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling
(Oxford Univ Press, 2013)Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the ... -
A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused By Defective De Novo Phosphatidylcholine Biosynthesis
(Cell Press, 2011)Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been ... -
A Critical Overview of The Imaging Arm of The Asas Criteria For Diagnosing Axial Spondyloarthritis: What The Radiologist Should Know
(Turkish Soc Radiology, 2012)The Assessment in SpondyloArthritis international Society (ASAS) defined new criteria in 2009 for the classification of axial spondyloaithritis (SpA) in patients with >= 3 months of back pain who were aged <45 years at the ... -
A Cross Section of Autosomal Recessive Limb-Girdle Muscular Dystrophies In 38 Families
(BMJ, 2000)Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci ... -
A Cross-Over Medication Trial For Patients With Autosomal-Dominant Hypertension With Brachydactyly
(Blackwell Science Inc, 1998)We examined a family with autosomal-dominant hypertension and brachydactyly from northeastern Turkey. The hypertension was defined as severe, resulting in stroke before age 50 years, featuring normal renin, aldosterone, ... -
A Dna-Pkcs Mutation in A Radiosensitive T-B- Scid Patient Inhibits Artemis Activation And Nonhomologous End-Joining
(Amer Soc Clinical Investigation Inc, 2009)Radiosensitive T-B- severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Here we have ... -
A Double-Blind, Placebo Controlled, Cross-Over Trial of Adjunctive Donepezil For Cognitive Impairment In Schizophrenia
(Oxford Univ Press, 2004)Although there have been several case reports suggesting the beneficial effect of acetylcholinesterase inhibitors in the cognitive deficits seen in schizophrenia, controlled studies have revealed contradictory results. The ... -
A European Organization for Research and Treatment of Cancer - International Antimicrobial Therapy Group Study of Secondary Infections in Febrile, Neutropenic Patients with Cancer
(Univ Chicago Press, 2005)Background. Neutropenic patients with cancer may develop several episodes of fever and infection during chemotherapy-induced myeloaplasia. Methods. To identify risk factors for secondary infectious episodes among patients ... -
A European Survey of Antibiotic Management of Methicillin-Resistant Staphylococcus Aureus Infection: Current Clinical Opinion and Practice
(Wiley-Blackwell, 2010)Although the epidemiology of methicillin-resistant Staphylococcus aureus (MRSA) varies across Europe, healthcare-associated MRSA infections are common in many countries. Despite several national guidelines, the approach ... -
A Fully Liquid Dtap-Ipv-Hb-Prp-T Hexavalent Vaccine for Primary and Booster Vaccination of Healthy Turkish Infants and Toddlers
(Tubitak Scientific & Technical Research Council Turkey, 2017)Background/aim: Immunogenicity and safety of a primary series of a fully liquid, hexavalent DTaP-IPV-HB-PRP-T vaccine given at 2, 3, and 4 months of age compared to licensed comparators and a DTaP-IPV-HB-PRP-T booster at ... -
A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9Q34
(Endocrine Soc, 1999)Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have ... -
A Giant Short Arm Of No. 21 Chromosome In Mother Of 21/21 Translocation Mongol
(British Med Journal Publ Group, 1976) -
A Large Turkish Kindred with Syndactyly Type-II (Synpolydactyly) .1. Field Investigation, Clinical and Pedigree Data
(British Med Journal Publ Group, 1995)A very large Turkish family with syndactyly type II (synpolydactyly (SPD)) is described, which originated from and is mainly concentrated in the village of Derbent, Afyon. The kindred consists of 425 subjects over seven ...