Results 101 to 110 of about 107,561 (313)

Tetralogy of Fallot with absent pulmonary valve syndrome : an imaging challenge [PDF]

, 2015
Congenital absence of pulmonary valve syndrome (APV) represents a fascinating and unique variant of congenital heart disease. It was Chever in 1847 who first described this unique structural heart defect.
Gogou, Maria, Keivanidou, Anastasia, Giannopoulos, Andreas   +2 more
core  

General Concepts in Adult Congenital Heart Disease

, 2018
Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease ...
Alpay Çeliker, Ferit Onur Mutluer
core   +1 more source

Stereoselective Biotransformation: Transfer of Learning to Advance Drug Metabolism and Biocatalysis

Angewandte Chemie, EarlyView.
Understanding stereoselective biotransformations has implications for predicting drug disposition and response and may also inspire novel biocatalytic and biomimetic strategies to address challenges in metabolite and API synthesis. ABSTRACT Chirality is an important determinant of drug action, as enantiomers can exhibit markedly different ...
Grace A. Okunlola, Godwin A. Aleku
wiley   +2 more sources

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Adult Congenital Heart Disease

, 2009
A rapid reference providing insight into the basic principles of congenital heart disease and giving a good grounding in the care of the adult with congenital heart disease.

core   +1 more source

The newly developed Adult Congenital Heart Disease Anatomic and Physiological classification: first predictive validity evaluation.

, 2020
Background Risk stratification for adults with congenital heart disease is usually based on the anatomic complexity of the patients' defect. The 2018 American Heart Association/American College of Cardiology guidelines for the management of adults with ...
Budts, Werner, Goossens, Eva, Van De Bruaene, Alexander, Moons, Philip, Moons, Philip,, Ombelet, Fouke   +5 more
core   +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

Antiarrhythmic therapy for narrow QRS supraventricular tachyarrhythmias in newborns and infants in the first year of life: Potent tools to be handled with care

Indian Pacing and Electrophysiology Journal
Supraventricular tachyarrhythmias pose a significant challenge in neonates and infants, particularly within the first year of life, where prompt and effective management is crucial.
Giovanni Domenico Ciriello, Davide Sorice, Antonio Orlando, Giovanni Papaccioli, Diego Colonna, Anna Correra, Emanuele Romeo, Raffaella Esposito, Marina De Marco, Veronica Diana, Mario Giordano, Ludovica Spinelli Barrile, Maria Giovanna Russo, Berardo Sarubbi   +13 more
doaj   +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

Overview of Adult Congenital Heart Disease and Maintainance of Optimal Function in Adult Congenital Heart Disease

, 2017
Overview of Adult Congenital Heart Disease and Maintainance of Optimal Function in Adult Congenital Heart ...
Yip, James
core   +1 more source