Results 41 to 50 of about 117,203 (208)

Real‐World Observations in Patients With Obstructive Hypertrophic Cardiomyopathy Treated With Mavacamten: Evidence of Favorable Disease Modification

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Mavacamten is commercially approved for use in symptomatic patients with obstructive hypertrophic cardiomyopathy. This study evaluated its real‐world impact on symptoms, echocardiographic changes, and the need for septal reduction therapy in ...
Milind Y. Desai, Andrew Gaballa, Yuichiro Okushi, Mohammed Abusafia, Shada Jadam, Katy Rutkowski, Susan Ospina, Sanaa Sultana, Maran Thamilarasan, Craig Asher, Zoran B. Popovic, Bo Xu   +11 more
doaj   +1 more source

Hypertrophic cardiomyopathy with mid-ventricular obstruction and apical aneurysm [PDF]

, 2016
A case report of apical left ventricular aneurysm in patient with hypertrophic cardiomyopathy with mid-ventricular obstruction (diagnosis and surgical treatment) is presented.
D.I. Besh, S.S. Pavlyk, Yu.H. Kyjak, V.S. Moroz, I.M. Bigun, Yu.A. Ivaniv, N.D. Oryshchyn   +6 more
core  

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +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

Prevalence of hypertrophic cardiomyopathy in the UK Biobank population [PDF]

, 2021
Hypertrophic cardiomyopathy (HCM) causes considerable morbidity and mortality, including sudden death and death from heart failure and stroke.1 Hypertrophic cardiomyopathy is defined...
Aung, N, Munroe, P, Petersen, S
core   +1 more source

The multi-modality cardiac imaging approach to the Athlete's heart: an expert consensus of the European Association of Cardiovascular Imaging [PDF]

, 2015
peer reviewedThe term 'athlete's heart' refers to a clinical picture characterized by a slow heart rate and enlargement of the heart. A multi-modality imaging approach to the athlete's heart aims to differentiate physiological changes due to intensive ...
Galderisi, Maurizio, Popescu, Bogdan A., Cosyns, B, Petersen, SE, Cardim, Nuno, DAVIN, Laurent, Schroeder, S, Kitsiou, Anastasia, Cosyns, Bernard, Lancellotti, Patrizio, Petersen, Steffen E., Habib, G, Kitsiou, A, Edvardsen, T, Davin, L, Cardim, N, Bruder, Oliver, Popescu, Bogdan Alexandru, Burgstahler, C, D'Andrea, Antonello, Donal, E, Bruder, O, Plein, S, Freitas, A, Freitas, Antonio, Burgstahler, Christof, Galderisi, M, Edvardsen, Thor, Donal, Erwan, Lancellotti, P, Plein, Sven, D'Andrea, A, Schroeder, Stephen, Habib, Gilbert, Popescu, BA, Maurizio Galderisi   +35 more
core   +1 more source

Disulfide Bond–Modified Proteomics Reveals the Effects of Riboflavin on Protein Folding Dynamics

Animal Research and One Health, EarlyView.
Riboflavin deficiency impairs oxidative protein folding, causing ER misfolded protein accumulation, CHOP activation, and apoptosis, revealing a role of riboflavin in proteostasis. ABSTRACT Riboflavin is a crucial micronutrient essential for maintaining cellular homeostasis, acting as an important precursor for flavoproteins that utilize flavin ...
Bo Zhang, Shuisheng Hou, Jing Tang
wiley   +1 more source

Double Transeptal Puncture for SAPIEN M3 Transcatheter Mitral Valve Replacement: Initial Experience, Indications, and Technique

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT The SAPIEN M3 system has been recently approved for transcatheter mitral valve replacement (TMVR). The transeptal guide sheath is used to deploy the dock, which is completely released before inserting and deploying the M3 valve using the same femoral access, transeptal puncture (TSP) and guide sheath.
Clara Fernandez‐Cordon, David Hoare, Aayush Singal, Sanjeev Bhattacharyya, Suneil K. Aggarwal, Michael J. Mullen   +5 more
wiley   +1 more source

Assembly and Maintenance of Myofibrils in the Heart

Cytoskeleton, EarlyView.
ABSTRACT The assembly of actin and myosin to the paracrystalline arrangement of myofibrils in striated muscle, that is, heart and skeletal, has puzzled many a cell biologist. Different models, based on cultured cardiomyocytes, were proposed for the last 30 years to explain the sequence of events.
Elisabeth Ehler
wiley   +1 more source

Increased Insulin Action, Glucose Metabolism and Muscle Function in Supervillin‐Knockout and Supervillin‐Mutant Mice

Cytoskeleton, EarlyView.
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith, Lauren A. Tauer, Randall H. Friedline, Xiaodi Hu, Duy Tran, Yangyi E. Luo, Nacima Hadjout‐Rabi, Elisabeth R. Barton, Jason K. Kim, Elizabeth J. Luna   +9 more
wiley   +1 more source