Results 141 to 150 of about 370,897 (400)

Cytomegalovirus infection and congenital heart disease in children

Журнал инфектологии, 2019
Congenital heart defects account for about 30% of all anomaly of development in children. Cytomegalovirus infection suffered by a woman during pregnancy claims one of the leading places among teratogenic factors.Aim: to study clinical and pathogenetic ...
E. A. Каshuba, Yu. S. Chehova, K. V. Gorbatikov, T. G. Drozdova, I. S. Totolin, М. V. Аntonova, Е. Yu. Savinova   +6 more
doaj   +1 more source

A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene—A Molecular Dynamic Simulation Approach

PLoS ONE, 2016
Congenital heart defects (CHD) presented as structural defects in the heart and blood vessels during birth contribute an important cause of childhood morbidity and mortality worldwide.
Firoz Abdul Samad, B. Suliman, S. H. Basha, T. Manivasagam, M. Essa   +4 more
semanticscholar   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Prevalence and predictors of later feeding disorders in children who underwent neonatal cardiac surgery for congenital heart disease [PDF]

, 2017
Aim We thought of assessing the prevalence and predictors of feeding disorders in patients with congenital heart defects after neonatal cardiac surgery.
Balmer, Christian, Bauersfeld, Urs, Geissmann, Hilda, Knirsch, Walter, Latal, Beatrice, Maurer, Ilona   +5 more
core  

The significance of neonatal thymectomy for shaping the immune system in children with congenital heart defects [PDF]

, 2017
Małgorzata Stosio, Jakub Ruszkowski, Anna Mikosik, Ireneusz Haponiuk, Jacek M. Witkowski   +4 more
openalex   +1 more source

Data related to "Providing Psychological Support to Parents of a Young Child with Congenital Heart Defect (CHD) in Denmark: An Interpretative Phenomenological Analysis Focus Group Study Exploring Caregivers' Preferences and Needs for Psychological Support".

, 2022
Isabella Drachmann, Susanne S. Pedersen, Nina Føns Johnssen, Christina Maar Andersen   +3 more
openalex   +1 more source

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

Thorax, 2018
Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype–phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects ...
Sunayna Best, A. Shoemark, B. Rubbo, M. Patel, Mahmoud R. Fassad, M. Dixon, A. Rogers, R. Hirst, A. Rutman, S. Ollosson, C. Jackson, P. Goggin, Simon Thomas, R. Pengelly, T. Cullup, Eleni Pissaridou, Jane D. Hayward, A. Onoufriadis, C. O’Callaghan, M. Loebinger, R. Wilson, E. Chung, P. Kenia, V. Doughty, J. Carvalho, J. Lucas, H. Mitchison, C. Hogg   +27 more
semanticscholar   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Chircop, Marcelle, Ellul, Marthese, Grech, Victor E., Grixti, Charles J.   +3 more
core  

Multimodal approach to characterize surgically removed epileptogenic zone from patients with focal drug‐resistant epilepsy: From operating room to wet lab

Epilepsia Open, EarlyView.
Abstract Objective We have established a comprehensive sample handling protocol designed for the multiscale assessment of epileptogenic tissue. This protocol aims to identify novel therapeutic targets and enhance the diagnosis and stratification of patients with drug‐resistant epilepsy, thereby optimizing their treatment with anti‐seizure medications ...
Jenni Kyyriäinen, Adriana Della Pietra, Mastaneh Torkamani‐Azar, Mireia Gómez‐Budia, Polina Abushik, Nataliia Novosolova, Henri Eronen, Omar Narvaez, Ekaterina Paasonen, Vera Lezhneva, Anssi Pelkonen, Liudmila Saveleva, Antti Huotarinen, Ilya Belevich, Eija Jokitalo, Kuopio Epilepsy Center Epilepsy Surgery Group, Leena Jutila, Tuomas Rauramaa, Arto Immonen, Ville Leinonen, Jussi Tohka, Olli Gröhn, Reetta Kälviäinen, Tarja Malm, Alejandra Sierra   +24 more
wiley   +1 more source