Results 121 to 130 of about 791,870 (310)

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Incidence and predictive factors for development of ADHD post congenital heart disease surgery—a single tertiary center experience from India

Frontiers in Cardiovascular Medicine
IntroductionA recent shift in mortality trends in children with congenital heart disease (CHD) has led to more patients reaching adulthood. Attention-deficit hyperactivity disorder (ADHD) is a prevalent and often underdiagnosed condition, with increased ...
Akriti Gera, Amit Misri, Pankaj Bajpai, Shefali Yadav   +3 more
doaj   +1 more source

Aortic valve neo-cuspidation using the Ozaki technique for acquired and congenital disease: where does this procedure currently stand? [PDF]

Indian J Thorac Cardiovasc Surg, 2020
Baird CW, Marathe SP, Del Nido PJ.
europepmc   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Initial clinical experience with dapagliflozin in addition to optimized medical therapy in paediatric heart failure patients

ESC Heart Failure
Aims Dapagliflozin, a sodium‐glucose cotransporter 2 (SGLT2) inhibitor, has shown clinical benefits in adults with heart failure (HF), improving cardiac function, reducing HF‐related hospitalizations and enhancing survival rates.
Lisa‐Maria Rosenthal, Oliver Miera, Annemarie Krauss, Friederike Danne, Felix Berger, Peter Kramer   +5 more
doaj   +1 more source

Convalescent Immunity to Guinea Pig Cytomegalovirus Induces Limited Cross Strain Protection against Re-Infection but High-Level Protection against Congenital Disease. [PDF]

Int J Mol Sci, 2020
Choi KY, El-Hamdi NS, McGregor A.
europepmc   +1 more source

Congenital Heart Disease [PDF]

Postgraduate Medical Journal, 1945
openaire   +3 more sources

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Surgical Ventricular Septal Defect Repair

JACC: Case Reports
Ventricular septal defects (VSDs), the most common of congenital heart defects, vary widely in anatomy and size. Surgical treatment of very large VSDs can be challenging because no clear recommendations exist about which defects can undergo biventricular
Emmanuelle Fournier, MD, Bastien Provost, MD, Alice Dirickx, MD, Estibaliz Valdeolmillos, MD, Gregoire Albenque, MD, Clément Batteux, MD, Viktoria Weixler, MD, PhD, Sébastien Hascöet, MD, PhD, Emre Belli, MD, PhD   +8 more
doaj   +1 more source