Results 81 to 90 of about 172,842 (307)

Comparison of Two Measurement Devices for Pulse Wave Velocity in Children: Which Tool Is Useful to Detect Vascular Alterations Caused by Overweight?

Frontiers in Pediatrics, 2019
Vascular alterations may lead to manifest cardiovascular disease in future life. There is a tremendous time delay between the onset and obvious clinical appearance of vascular alterations.
Julia Elmenhorst, Heidi Weberruss, Martina Mayr, Karin Pfister, Renate Oberhoffer, Renate Oberhoffer   +5 more
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Sex differences in publication volume and quality in congenital heart disease: are women disadvantaged?

Open Heart, 2019
Background Women are underrepresented in leading medical positions and academia. The gender-gap in authorship of congenital heart disease (CHD) publications remains unknown.
Michael A Gatzoulis, Gerhard Paul Diller, Aleksander Kempny, Sophie van Doren, Margarita Brida, Sonya V Babu-Narayan, Ulrike M M Bauer, Helmut Baumgartner   +7 more
doaj   +1 more source

Peri-operative Anesthetic Innovations During Pediatric Cardiac Surgery [PDF]

, 2011
Congenital heart disease (CHD) refers to a series of birth defects that aff ect the heart and thoracic vessels, aff ecting 6 to 8 out of 1,000 babies being born.
Scohy, T.V. (Thierry)
core   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Epidemiology of paediatric chronic heart failure in Germany—A population‐based analysis

ESC Heart Failure
Aims Paediatric chronic heart failure (CHF) is associated with significant morbidity. The aim of this study was to describe paediatric CHF epidemiology in Germany.
Alexej Bobrowski, Sven Klebs, Marco Alibone, Leonore Bovy, Dennis Häckl, Thilo Fleck, Brigitte Stiller   +6 more
doaj   +1 more source

Case Report: Heart aneurysm of unknown origin in a two-year-old child diagnosed in the course of Multisystem Inflammatory Syndrome in Children

Frontiers in Cardiovascular Medicine
We present a case of a 22-month-old boy with a hypokinetic and thin-walled aneurysm of the left ventricle apex. The lesion was diagnosed during routine echocardiography examination in the course of MIS-C, and its occurrence due to MIS-C is plausible ...
Dominika Mystkowska, Michal Galeczka, Wojciech Tarala, Pawel Banaszak, Joanna Sliwka, Szymon Pawlak, Roland Fiszer   +6 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Prevalence and pattern of congenital heart disease among neonates in Gorgan, Northern Iran (2007-2008) [PDF]

, 2011
Objective: Congenital heart disease (CHD) is the most common congenital anomaly newborns. The aim of this longitudinal, hospital-based study was to evaluate the prevalence and pattern of CHD among Iranian newborns in Gorgan, Northern Iran. Methods: 11739
Golalipour, M.J., Mirfazeli, A., Nikyarspi-Sup, B., Qourbani, M., Sedehi, M.   +4 more
core  

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland [PDF]

, 2010
Background The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia.
Anna Wozniak, Danuta Wolnik-Brzozowska, Marzena Wisniewska, Renata Glazar, Anna Materna-Kiryluk, Tomasz Moszura, Magdalena Badura-Stronka, Joanna Skolozdrzy, Maciej R Krawczynski, Joanna Zeyland, Waldemar Bobkowski, Ryszard Slomski, Anna Latos-Bielenska, Aldona Siwinska   +13 more
core   +1 more source