Results 141 to 150 of about 55,991 (251)

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Use of Disopyramide in Obstructive Hypertrophic Cardiomyopathy: A European Insight. [PDF]

J Clin Med
Charron P, Osman F, Trochu JN, Zema C, Hurst M, Sandler B, Cotté FE, Lemmer T, Esteban MT.   +8 more
europepmc   +1 more source

Therapeutic drug monitoring of antimicrobials in a paediatric setting: A retrospective single‐centre study

British Journal of Clinical Pharmacology, Volume 92, Issue 8, Page 2723-2740, August 2026.
Aims Paediatric pharmacokinetics differ significantly from adults due to age‐related physiological changes, necessitating precise dose adjustments. However, data on therapeutic drug monitoring (TDM) implementation in paediatric setting remain limited.
Gianluca Gazzaniga, Stefano Agliardi, Riccardo Giossi, Alice Schianchi, Alessandra Romandini, Thomas Virdis, Silvia Nerini Molteni, Maria Luisa De Angelis, Stefania Paccagnini, Cecilia Gechtman, Alice Proto, Marco Fossati, Silvia Oliveri, Giulia Angela Pattarino, Elena Altieri, Agnese Graziosi, Arianna Pani, Romano Danesi, Stefano Martinelli, Costantino De Giacomo, Francesco Scaglione   +20 more
wiley   +1 more source

Hypertrophic Cardiomyopathy Mutation R723G in MYH7 Enhances Its mRNA-Stability. [PDF]

Acta Physiol (Oxf)
Kowalski K, Schwarze L, Kraft T, Montag J.   +3 more
europepmc   +1 more source

Nine‐Year Follow‐Up After M‐TEER for Secondary Mitral Regurgitation in a Patient With Cardiogenic Shock

Catheterization and Cardiovascular Interventions, Volume 108, Issue 2, Page 483-488, August 1, 2026.
ABSTRACT Background Transcatheter edge‐to‐edge repair (TEER) has become an established therapeutic option for patients with severe secondary mitral regurgitation (SMR). While randomized trials and registry data have reported outcomes up to 5 years, longer follow‐up data remain scarce.
Tobias Reithmayer, Thomas J. Stocker, Ludwig T. Weckbach, Julia Novotny, Philipp M. Doldi, Hannah Kempton, Steffen Massberg, Michael Näbauer, Jörg Hausleiter, Lukas Stolz   +9 more
wiley   +1 more source

Syncope in an Athlete With Apical Hypertrophic Cardiomyopathy: Ominous or Orthostatic? [PDF]

JACC Case Rep
Tatapudi S, Dean JL, Pabba K, Martinez MW.   +3 more
europepmc   +1 more source

Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, Through a Study of an Iranian Family With Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype–Genotype Correlation Analysis

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Desmin, a crucial intermediate filament in muscle cells, maintains structural integrity in cardiac muscle and provides stability to striated muscle cells. Mutations in the DES gene lead to desminopathies, causing diverse cardiac and skeletal myopathies.
Saeideh Kavousi, Farzad Kamali, Bahareh Rabbani, Mehrdad Behmanesh, Nejat Mahdieh, Mehrdad Noruzinia   +5 more
wiley   +1 more source

Evidence‐Based Nursing Management During Mavacamten Therapy in an 89‐Year‐Old Patient With Symptomatic Hypertrophic Obstructive Cardiomyopathy: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT In older patients receiving mavacamten, a reduction in NT‐proBNP levels may coexist with persistent severe LVOTO. Nurses should interpret this biomarker–echocardiography discordance as a safety signal and maintain structured cardiovascular surveillance rather than assuming treatment success based solely on biomarker improvement.
Feifei Wang
wiley   +1 more source

Intricacies in Serial Electrocardiograms in a Patient With Takotsubo Syndrome Mimicking Apical Hypertrophic Cardiomyopathy

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Some patients with takotsubo syndrome reveal transiently features of hypertrophic cardiomyopathy at imaging, particularly of the apical variety; this “pseudohypertrophy” is due to myocardial edema, and can be diagnosed by the absence of electrocardiogram evidence of left ventricular hypertrophy, and particularly a transient reduction of the ...
John E. Madias
wiley   +1 more source

Reply: Methodological Considerations on Targeted Polymer Embolization in Obstructive Hypertrophic Cardiomyopathy. [PDF]

JACC Case Rep
Filho EM, Munhoz TS, Morais Alves CH, Xavier Júnior EF, Júnior SM.   +4 more
europepmc   +1 more source