Results 71 to 80 of about 241,043 (267)

Simultaneous transcatheter intervention for atrial septal defect complicated with patent ductus arteriosus: A 13-year single institutional retrospective study

Journal of Interventional Medicine, 2018
: Purpose: The feasibility and validity of simultaneous transcatheter interventions for patients with atrial septal defect (ASD) complicated with patent ductus arteriosus (PDA) has not been systematically evaluated.Materials and Methods: A retrospective ...
Qiguang Wang, Xianyang Zhu, Zhongchao Wang, Chunsheng Cui, Duanzhen Zhang, Chuanju Hou, Po Zhang, Huoyuan Chen, Lili Meng   +8 more
doaj   +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

Changes in waiting time, need for mechanical circulatory support and outcomes in paediatric heart transplant recipients

ESC Heart Failure
Aims Heart transplantation is a well‐established treatment for end‐stage heart failure in paediatric patients, demonstrating excellent long‐term outcomes. Methods This retrospective study analyses 35 years of data on 244 paediatric recipients (
Lisa‐Maria Rosenthal, Annemarie Krauss, Oliver Miera, Friederike Danne, Fatima Lunze, Mi‐Young Cho, Joachim Photiadis, Felix Berger, Katharina Schmitt   +8 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Factors associated with cardiovascular events after simultaneous liver–kidney transplant from the US Multicenter Simultaneous Liver–Kidney Transplant Consortium

Hepatology Communications, EarlyView., 2022
Abstract Cardiovascular disease is a leading complication after both liver and kidney transplantation. Factors associated with and rates of cardiovascular events (CVEs) after simultaneous liver–kidney transplant (SLKT) are unknown. This was a retrospective cohort study of adult SLKT recipients between 2002 and 2017 at six centers in six United Network ...
Jennifer Jo, Gonzalo Crespo, Dyanna Gregory, Jasmine Sinha, Jiaheng Xie, Min Zhang, John Magee, Pranab Barman, Yuval A. Patel, Aaron Schluger, Kara Walters, Scott Biggins, Natalia Filipek, Giuseppe Cullaro, Randi Wong, Jennifer C. Lai, Gabriel J. Perreault, Elizabeth C. Verna, Pratima Sharma, Lisa B. VanWagner   +19 more
wiley   +1 more source

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

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

Feasibility and effectiveness of telemedicine for adult patients with congenital heart disease: A one-year single-center experience-based studySummary table

International Journal of Cardiology Congenital Heart Disease
Introduction: The number of adults with congenital heart disease has significantly increased in recent years. While telemedicine has emerged as a promising approach to improve care delivery and patient outcomes, its use for adults with congenital ...
Nunzia Borrelli, Nicola Grimaldi, Flavia Fusco, Antonio Orlando, Michela Palma, Maria Cristina Boccia, Sabrina Bassolino, Anna Iervolino, Berardo Sarubbi   +8 more
doaj   +1 more source