Results 201 to 210 of about 9,237,904 (297)

Relationship Between Right Ventricular Function and Chronotropic Incompetence in Pulmonary Arterial Hypertension Associated With Connective Tissue Disease. [PDF]

CHEST Pulm
Nakamura Y, Hieda M, Setoyama K, Someya T, Nakanishi N, Mitani M, Makita T, Hidaka K, Takeo M, Nakahara M, Miki H, Naka Y, Okabe H, Onoue T, Nagata Y, Iwataki M, Koga JI, Oginosawa Y, Kataoka M.   +18 more
europepmc   +1 more source

Implantable Systems for Cardiovascular Treatment and Monitoring: Comparative Insights From Intracardiovascular and Extracardiovascular Technologies

Advanced Intelligent Systems, EarlyView.
A unifying device–cardiovascular interface framework is presented to classify implantable cardiovascular technologies as intracardiovascular blood‐contacting systems or extracardiovascular tissue‐only and blood‐handling architectures. Cross‐class comparison across shared semiquantitative criteria, including blood‐contact burden, biomimicry ...
Bergo Nicolò, Semproni Federica, Maselli Martina, Colli Andrea, Cianchetti Matteo, Ciuti Gastone, Stefanini Cesare, Menciassi Arianna   +7 more
wiley   +1 more source

Right ventricular function, exercise capacity and quality of life in adults with congenital heart disease and the effect of a home-based exercise program. [PDF]

Int J Cardiol Congenit Heart Dis
Vanreusel I, Bowen DJ, Van Der Meiren V, Briedé JJ, van den Bosch AE, Paelinck BP, Van Craenenbroeck E, Segers VFM, Hens W, Van Berendoncks A.   +9 more
europepmc   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Adaptation of right ventricular function following tricuspid transcatheter edge-to-edge repair. [PDF]

ESC Heart Fail
Bombace S, Rosch S, Schöber AR, von Roeder M, Schlotter F, Rommel KP, Blessing R, Lücke C, Gutberlet M, Sannino A, Thiele H, Lurz P, Kresoja KP.   +12 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Echocardiographic correlates of pressure-volume-derived indices: Advancing intraoperative assessment of right ventricular function. [PDF]

JTCVS Open
Kiarad V, Ahmed U, Heerdt P, Mahmood F, Moaddab M, Liu D, Senthilnathan V, Kai M, Chu L, Khabbaz K.   +9 more
europepmc   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source