Results 111 to 120 of about 107,561 (313)

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Chance of surgery in adult congenital heart disease [PDF]

, 2017
Background: Young patients with congenital heart disease reaching adulthood face mandatory transition to adult cardiology. Their new cardiologist needs to assess the chances of major future events such as surgery.
Mulder, Barbara J. M., Zomer, A.C., Grobbee, D.E., Cuno SPM Uiterwaal, Diederick E Grobbee, Uiterwaal, C.S.P.M., Velde, E.T. van der, Carianne L Verheugt, Post, M.C., AC Zomer, Verheugt, C.L., Vaartjes, I., Folkert J Meijboom, Mulder, Barbara Jm, Marco C Post, Petronella G Pieper, Vliegen, Hubert W, Hazekamp, Mark G., Pieper, P.G., Vliegen, Hubert W., Meijboom, F.J., Mulder, B.J.M., Hazekamp, M.G., Post, Marco C., Mark G Hazekamp, Vliegen, H.W., Uiterwaal, Cuno S.P.M., Verheugt, Carianne L., Meijboom, Folkert J., Hubert W Vliegen, Vaartjes, Ilonca, Enno T van der Velde, Mulder, Barbara J M, Uiterwaal, Cuno S. P. M., Pieper, Petronella G., Pieper, Petronella G, van der Velde, Enno T., Zomer, A. C., Grobbee, Diederick E., Uiterwaal, Cuno Spm, Barbara JM Mulder, Ilonca Vaartjes   +41 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Management of grown up congenital heart disease

, 2003
s a result of the success of paediatric cardiology and cardiac surgery over the last three decades, there will shortly be more adults than children with congenital heart disease.
Alonso MA, ESC Committee for Practice Guidelines, Silove E, Deanfield J, Bink Boelkens M, Blanc JJ, Hradec J, Kaemmer H, Thaulow E, Vouhe P, Lekakis J, Trappe HJ, Deckers J, Daliento L, Lindahl B, Redington A, Morais J, Cowie M, Presbitero P, Klein W, Mazzotta G, Oto A, Torbicki A, Smiseth O, Webb G, Sorenson K, Budaj A, Kolbel F, Thilen U, Hoffman A, PRIORI, SILVIA GIULIANA, de Backer G, Fernandez Burgos E, Parkhomenko A, Task Force on the Management of Grown Up Congenital Heart Disease, European Society of Cardiology, Iserin L, Blömstrom Lundqvist C, Warnes C   +37 more
core  

Adult congenital heart disease nurse coordination: Essential skills and role in optimizing team-based care a position statement from the International Society for Adult Congenital Heart Disease (ISACHD).

, 2017
BACKGROUND Founded in 1992, the International Society for Adult Congenital Heart Disease (ISACHD) is the leading global organization of professionals dedicated to pursuing excellence in the care of adults with congenital heart disease (CHD) worldwide.
Mizuno, Yoshiko, Fernandes, Susan M, Finlay, Clare, Flocco, Serena Francesca, Morin, Joanne, Malpas, Theresa, Barber, Deena, Chen, Chi-Wen, Balon, Yvonne, Yang, Hsiao-Ling, Thomet, Corina, Fernandes, Susan M., Sillman, Christina   +12 more
core   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Frailty and cognitive function after the age of 40 in adults with moderate or severe congenital heart disease

Background: Decades of progress in care and treatment for congenital heart disease (CHD) has gradually shifted the research focus from initial survival to long-term prognosis and the ageing of adults with CHD.
International Society for Adult Congenital Heart Disease, Christersson, Christina, APPROACH-IS II consortium, Goossens, Eva, Moons, Philip, Sandberg, Camilla, Luyckx, Koen, Kovacs, Adrienne H., Hlebowicz, Joanna, Mandalenakis, Zacharias, Skogby, Sandra, Van Bulck, Liesbet, Johansson, Bengt   +12 more
core   +1 more source

The multicenter pediatric and adult congenital EP quality (MAP-IT) initiative-rationale and design: Report from the pediatric and congenital electrophysiology society's MAP-IT taskforce

, 2013
Multicenter clinical registries are increasingly recognized as valuable tools for establishing benchmarks, facilitating patient-centered quality improvement and research.
Collins, Kathryn K., Tsao, Sabrina, Kanter, Ronald, Serwer, Gerald A., Batra, Anjan S., Dubin, Anne M., Seslar, Stephen P., Webster, Gregory, Kugler, John, Radbill, Andrew E., Crosson, Jane, Tanel, Ronn E., Saarel, Elizabeth V., Papez, Andrew, Etheridge, Susan   +14 more
core   +1 more source

Leadless atrioventricular synchronous pacing in Eisenmenger syndrome

HeartRhythm Case Reports, 2021
Paul Khairy, MD, PhD, Blandine Mondésert, MD, François-Pierre Mongeon, MD, SM, Nancy Poirier, MD, Bernard Thibault, MD, FHRS   +4 more
doaj   +1 more source

The Initial Middle Eastern Experience With the Alterra Adaptive Pre-Stent: Single-Center Outcomes From Saudi Arabia

CJC Pediatric and Congenital Heart Disease
Background: The Alterra Adaptive Pre-Stent, used with the Edwards SAPIEN 3 valve, offers a novel transcatheter option for patients with severely dilated right ventricular outflow tracts (RVOTs) previously unsuitable for conventional transcatheter ...
Mohamed Al Nasef, FRCPCH, Bandar Al Shehri, MD, Khalid Al Naji, MD, Ahmed Al Zahrani, MD, Merna Atiyah, MD, Omar Abdulaziz Almohizy, MD, Saria Mansour Ahmed, MD, Khalid Al Najashi, MD   +7 more
doaj   +1 more source