About: Research and development in the sphere of paediatrics and genetics

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An Entity of Type : http://linked.opendata.cz/resource/domain/vavai/Aktivita, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	http://linked.opendata.cz/resource/domain/vavai/Aktivita
Title	Research and development in the sphere of paediatrics and genetics (en) Výzkum a vývoj v oblasti Pediatrie a genetiky (cs)
skos:notation	NE
http://linked.open...ai/cea/pgm/XD_PGM	242
http://linked.open...a/pgm/cilAktivity	Increase of the level of diagnostics and treatment of conditions, substantially participating in the mortality and morbidity of children and youth in the Czech Republic (autoimmune and allergic diseases, accidents, intoxications and so-called new morbidity of adolescents, perinatological scheme). Extension of knowledge of molecular genetic elements in the pathogenesis of diseases. (en) Zvýšení úrovně diagnostiky a léčby stavů, které se podílejí rozhodujícím způsobem na mortalitě a morbiditě dětí a mládeže v ČR, (autoimunitní a alergické choroby, úrazy, otravy a tzv. nová morbidita mladistvích, perinatologický program). Prohloubení znalostí molekulárně genetických prvků v patogenezi nemocí. (cs)
http://linked.open...a/pgm/rokUkonceni	2005
http://linked.open...a/pgm/rokZahajeni	1998
http://linked.open...a/pgm/typAktivity	P - Program
http://linked.open...ai/cea/pgm/resort	Ministry of Health
is http://linked.open...avai/cep/aktivita of	DNA - diagnosis of Myotonic Dystrophy. Screening of the toxic cardiomyopathy after cardiotoxical cytostatic therapy during childhood. WILSON DISEASE - GENETIC FACTORS,MOLECULAR PATHOLOGY AND STUDY OF COPPER TRANPORT. Screening of mutations in the PKD2 gene from families with autosomal dominant polycystic kidney disease. Biochemical,enzymological and molecular biological study of hyperketotic states. The assessment of true incidence and prognosis after recovery from severe respiratory failure in childhood. The Assesment of Effectivity of the Neonatal Screening for Congenital Adrenal hyperplasia in the Czech republic. Efficacy of current cytogenetics protocols for the diagnosis of chromosome abberations in tumor specimens. The application of 13C breath test in padiatics. The role of FAS/FAS -L interaction in celiac disease. Normal values of blood pressure in children and adolescents in the Czech Republic. Influence of organization of health and social services for mental,physical and social handocapped children on quality of professional care. Quantitative analysis of abnormal EEG in young infants. The programme of long-term effectiveness of integrated intervention of obesity in childhood. LATENT FORM of CELIAC DISEASE and PROBLEMS of DIAGNOSIS. New risk factors in childhood acute lymphoblastic leukemia at the DNA,RNA and protein-expression levels. Mitochondriální %22rozpřahující proteiny%22 v játrech a kosterním svalu v průběhu perinatálního vývoje The Retrospektive study of Playground Injuries in Childhood Assessment of hydrogen peroxide as a marker of oxidative stress in exhaled air in ventilated preterm newborns Molekular-cytogenetic analyses of interphase cells and prognostic significance of small cell clones with heterodiploidy in children with leukemia and preleukemia. Genetice and metabolic consequences ofinherited disorders of mitochondrial ATFase. Maturation of mitochondrial energy metabolism in perinatal period Assessment of diagnostic and terapeutic steps done by an otolaryngologist and a plastic surgeon in a solution of the care of patients with craniofacial deformities Relationship of intracellular methotrexate concentration to clinical and laboratory parameters of disease activity in children with idiopathic arthritis Inherited disorders of hematopoessis Lipid Metabolism and Oxidative Stress Parameters in Perinatal Period with Respect of Their Therapeutic Influence and Monitoring Early treatment response as the most important prognostic factor in childhood acute lymphoblastic leukemia in the new international treatment protocol The development during the childhood in Brno WHO/ELSPAC set. The main study at 11 years of age. The Problems of Health and Social Care Concerning Drowing and Injuries Connected with Water The Effect of Impaired Nutritional Status in Children and Adolescents on the Metabolism of Orexin A. Biochemical and molecular studies in methylmalonic acidemia Improvent in the care provided for the abused children in Ostrava Region Screening of mutations in the non-duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease Analysis of preoperative /perioperative impacts and longitudinal evalution of indices of funcional abnormalities devalopment after repair of congenital heart defects. Permanent lung remodeling? Enrichment and purification of fetal nucleated red nlood cells from the pripharel blood of pregnant women Hypoxic fetoplacental vasoconstriction Unrelated bone marrow transplantation with T - cell depletion in children with leukemia and nonhematological disorders Bronchoscopical evaluation of the risk of the damage to the respiratory system in children with perinatal pathology Late outcome of the infants and children with hemolytic-uremic syndrome. Fetomaternal alloimmune thrombocytopenia - improvement of diagnosis and management of transfusion support Tissue and organ maturation in neonates: involvement of uncoupling protein-2. The detection of vesicoureteric reflux with contrast ultrasound cystography. Genotype and selected signs of the fenotype of juvenile hypertension and in the pre-hypertension stage. New approaches in the tretment of acute respiratory failure and persistent pulmonary hypertension of the newborns The average age of parents of children with selected types of congenital malformations in the Czech republic in the period 1960 1990. Fish in detection of hyperdiploidy in childhood acute lymphoblastic leukemia/ALL/ Comparison of Ibuprofen and Indomethacine in the treatment hemodynamic significant patent ductus arteriosus /PDA/ in the newborns wtih extremely and very low bi Efficacy and safety of nebulised vs, systemic coricosteroids in the prevention and treatment of bronchopulmonary dysplasia. Genetic analysis of experimental compensatory renal hypertrophy Disturbances of glucose tolerance in young girls under long-term glucocorticoid treatment Prognostic parameters in juvenile chronic arthritis A low birth weight and the risk of atherosclerosis. Erythropoietin in health and disease Mitotic instability in inviduals with idiopathic disturbances of fertility Nutrition and nutritional status in children with chronic renal insufficiency,on dialysisi and after renal transpantion Subpopulations of HDL cholesterol - esterification rate - in children with risk factors for developing of coronary artery disease Intratracheal ventilation support in premature newborns Differentiation of mild hyperhomocysteinemia, its diagnostic significance and possible use as the selective screening in population of children with risk for ca Molekular analysis of hyperlipoproteinemias: The influence of mutations in the genes for LDLreceptor, apoB-100 and apoE on the phenotype of FH and FDB Diagnostics and treatment of myelodysplastic syndrome in children. Microdeletion syndromes, genotype-phenotype relations Development of universal detection system for multiplex identification of point mutations in human DNA using magnetic parlicles: feasibility study Fabry disease and X.-linked adrenoleucodystrophy: mutation analysis of alpha-galactosidase A and ALD-protein genes in the Czech patiens. Prevention of gonadal tumors in patients with Turner syndrome. Control of fibrin production in plasma during operation of cyanotic congenital heart defects in extracorporeal circulation. The development of pulmonary dysfunction after correction of congenital heart defects.The influenting factors before and during surgery. von Willebrand factor and Disease. The Development During the Childhood in Brno WHO/ELSPAC Set-Pilot Study. Study of cryptic chromosomal regions involved into complex translocations in acute leukem. and myelodysplastic syndrome by multicolour fluoresc. in situ hybridisation (M-FISH). Assessment of the development of very low birthweight preterm infants using the Czech version of the KID method(Kent Infant Development Scale) In utero origin in childhood acute lymphblastic leukemia. Management of hypertension,proteinuria an progression of autosomal dominant polycystic kindney disease in children. Genetic associations in ankylosing spondylitis. Impaire ability of kidney to excrete sodium under conditions of normal blood pressure as the main cause of development of hypertension. Quantitative fluorescent PCR in prenatal and postnatal diagnosis of aberrations of chromosome number and structure,and of their parental origin. Imunohistochemistry in graft biopses of transplanted kedney in children Perinatal Information System The use of new methods of laser micromanipulation, of molecular cytogenetics and genetics for the improvement of assisted reproduction and of early prevention of severe congenital anomalies and disorders Mutations and polymorphisms of the CFTR gene in the pathogenesis of chronic respiratory, gastrointestinal diseases and severe reproductive disorders Non-HLA genetic risk of insulin dependent diabetes mellitus in Czech children: a study of IDDM2 and IDDM1 2 genes Longitudinal and multidisciplinar care about the patients and families suffering from proximal muscular dystrophy Hyperlipoproteinemia and hypertension in children induced by intrauterine undernutrition. Creating of the early interaction diagnostic methodology in legally blind infants (0-1 year of age) and following therapeutical procedures based on the microanalysis of mother-legally blind unfant interaction Mutation analysis in frequent X-linked inherited metabolic diseases (ornithincarbamoyltrasferase deficiency,muccopolysaccharidosis type II,and hypoxanthin-phosporibosyltransferase deficiency A Retrospective Study of Child Physical and Psychical Maltreatment of the Czech Adult Population Submicroscopic chromosomal deletions - genotype-phenotype relation and a longitudinal study of patients Molecular basis of familial juvenile hyperuricemic nephropathy Use of Magnetic Resonance in the Assessment of Indications for Upper Urinary Tract obstruction Surgeries in Children Cochlear implant (CI) programme in children - extension of diagnostic options and the evaluation of factors affecting the benefit from CI

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