Results 71 to 80 of about 3,896,028 (254)

Chances of Employment in a Population of Women and Men after Surgery of Congenital Heart Disease: Gender-Specific Comparisons between Patients and the General Population [PDF]

It was examined whether women and men (17-45 years) with operated congenital heart disease (CHD) differ with respect to chances of employment. Patients were compared with the general population.
Kambiz Norozi, Siegfried Geyer, Armin Wessel, Reiner Buchhorn   +3 more
core  

Staffing, activities, and infrastructure in 96 specialised adult congenital heart disease clinics in Europe. [PDF]

, 2019
BACKGROUND: Clinical guidelines emphasise the need for specialised adult congenital heart disease (ACHD) programmes. In 2014, the working group on Grown-up Congenital Heart Disease of the European Society of Cardiology (ESC) published recommendations on ...
Moons, Philip, Roos-Hesselink, Jolien, Gabriel, Harald, Thomet, C, Gallego, Pastora, Webb, G, Gallego, P, Schwerzmann, Markus, Chessa, M, Thomet, Corina, ESC Working Group on Grown-up Congenital Heart Disease, Moons, P, Budts, W, Budts, Werner, Swan, Lorna, De Backer, Julie, Working Group on Grown-up Congenital Heart Disease, ESC, Giamberti, A, Diller, Gerhard, Roos-Hesselink, J, Webb, Gary, Schwerzmann, M, Giamberti, Alessandro, Eicken, Andreas, Chessa, Massimo, Eicken, A, Diller, G, Swan, L, Backer, J, Gabriel, H, Thomet C, Gabriel H, Swan L, Roos-Hesselink J, Schwerzmann M, Roos - Hesselink, Jolien; id_orcid, Diller G, Eicken A, Moons P, Giamberti A, Webb G, De Backer J, Chessa M, Moons, Philip,, Gallego P, Budts W, ESC Working Group on Grown-up Congenital Heart Disease.   +46 more
core   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

The Pulmonary Artery Pulsatility Index Provides No Additional Prognostic Information in Pediatric Pulmonary Arterial Hypertension

Children
Background/Objectives: The pulmonary artery pulsatility index (PAPi, calculated as (SPAP − DPAP)/mRAP) has been suggested as a measure of right ventricular–vascular coupling (RVVC) and as a prognostic parameter in cardiovascular conditions, particularly ...
Faye E. Smits, Chantal Lokhorst, Marlies G. Haarman, Mark-Jan Ploegstra, Rolf M. F. Berger, Johannes M. Douwes   +5 more
doaj   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Transcatheter closure of patent ductus arteriosus in infants weighing less than 6 kilograms – a two-center experience. Technical considerations

Cardiology Journal
BACKGROUND: Transcatheter closure has become the method of choice for treating patent ductus arteriosus (PDA) in a majority of patients. The only approved device for treating infants weighing less than 6 kilograms is the Amplatzer Piccolo Occluder (APO).
Michał Gałeczka, Michał Kapałka, Maciej Chojnicki, Michał Krawiec, Filip Tyc, Roland Fiszer   +5 more
doaj   +1 more source

Mitochondrial Dysfunction in Congenital Heart Disease

Mitochondria play a crucial role in multiple cellular processes such as energy metabolism, generation of reactive oxygen species, excitation–contraction coupling, cell survival and death.
Mariana Casa de Vito, Julie Pires Da Silva, Carissa Miyano, Carmen C. Sucharov   +3 more
core   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source