Bölüm "Çocuk Sağlığı ve Hastalıkları" Tıp Fakültesi için listeleme
Toplam kayıt 1070, listelenen: 21-40
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A Case Report of Thrombocytopenia-associated Multiple Organ Failure Secondary to Salmonella enterica Serotype Typhi Infection in a Pediatric Patient: Successful Treatment With Plasma Exchange
(2010)A high proportion of the patients with Salmonella enterica serotype Typhi infection develop severe sepsis. The mortality rate is high despite aggressive antimicrobial therapy in these patients. The case of a 10-year-old boy ... -
A Classification of Hemolytic Uremic Syndrome and Thrombotic Thrombocytopenic Purpura and Related Disorders
(Elsevier Science Inc, 2006)The diagnostic terms hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP) are based on historical and overlapping clinical descriptions. Advances in understanding some of the causes of the syndrome ... -
A Clinical Trial of Gene Therapy For Mucopolysaccharidosis Vi, A Severe Lysosomal Storage Disorder (Meusix)
(Mary Ann Liebert, Inc, 2015) -
A Clinically Variant Fibrosis Syndrome In A Turkish Family Maps To The Cfeom1 Locus On Chromosome 12
(Amer Medical Assoc, 2000)Objectives: To describe the phenotype of a Turkish family with variably expressed congenital fibrosis of the extraocular muscles (CFEOM), and to determine the genetic location of their disorder. Methods: Participants were ... -
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 Blood Stream Infections with Extended Spectrum Beta-Lactamase-Producing and Non-Producing Klebsiella Pneumoniae in Pediatric Patients
(2017)Background Rapid development and global spread of multidrug resistant Klebsiella pneumonia (K. pneumoniae) as a major cause of nosocomial infections is really remarkable. The aim of this study was to explore risk factors ... -
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 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 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 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 Diagnosis to Consider in An Adult Patient With Facial Features And Intellectual Disability: Williams Syndrome
(2017)Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The ... -
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 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)