Results 171 to 180 of about 15,647 (258)

Prevalence and Characteristics of Cardiac Arrhythmia in Duchenne Muscular Dystrophy: A Retrospective, Single-Center Holter Electrocardiographic Monitoring Study. [PDF]

Eur J Neurol
Sugiyama R, Takeshita E, Aihara Y, Shimizu-Motohashi Y, Izumi S, Oba M, Komaki H.   +6 more
europepmc   +1 more source

A Case of Brugada Syndrome… or Something Else? Behind Type 1 Brugada Pattern [PDF]

Clin Case Rep
ABSTRACT Although Brugada syndrome has traditionally been considered a primary electrical disease, accumulating evidence supports the presence of subtle structural abnormalities, particularly involving the right ventricular outflow tract. Nevertheless, the identification of overt myocardial scar and biventricular arrhythmogenic substrate should prompt ...
Scarà A, Borrelli A, Romano S, Sciarra L.   +3 more
europepmc   +2 more sources

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Pseudo-Left Ventricular Summit Premature Ventricular Contraction in a Patient With Abnormal Intraventricular Conduction. [PDF]

JACC Case Rep
Pham Nhu H, Nguyen The Nam H, Nguyen Xuan T, Nguyen Van D, Pham Van T.   +4 more
europepmc   +1 more source

Ischemia–Reperfusion Injury: Molecular Mechanisms and Therapeutic Interventions

MedComm, Volume 7, Issue 7, July 2026.
Multiorgan ischemia–reperfusion injury begins with ischemia‐induced ATP depletion and ionic imbalance, followed by reperfusion‐triggered mitochondrial ROS/RNS bursts, regulated cell death, and DAMP release. Sterile inflammation converges on endothelial–immune–coagulation crosstalk, where NETs drive immunothrombosis, no‐reflow, and remote organ injury ...
Peng An, Yi An, Mengwei Chen, Longlong Wu, Rong Wang   +4 more
wiley   +1 more source

Premature ventricular complexes ablation: A trip to the accuracy

Cardiology Journal, 2016
openaire   +3 more sources

High-takeoff anomalous right coronary artery arising from the ascending aorta: a case report. [PDF]

BMC Cardiovasc Disord
Raj PJA, Sundaramurthy A, Parthasarathy H.   +2 more
europepmc   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum of MED13L‐Associated Neurodevelopmental Disorder: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Here we report a novel de novo duplication of exons 8–16 of the MED13L gene in a patient with MED13L syndrome, presenting with an unreported phenotype: cleft lip. A review of previously reported patients with MED13L copy number variants is also conducted to refine genotype–phenotype correlations.
Zhongqing Wang, Xin Chen, Ziyun Cui, Xinyue Qi, Li Gu, Yi Liu, Wenjing Zhao, Yan Jiang   +7 more
wiley   +1 more source

A Non‐Channel Function of CFTR: Attenuating Mitochondrial Oxidative Stress and Cardiomyocyte Senescence via Stabilization by USP45

Aging Cell, Volume 25, Issue 7, July 2026.
USP45 stabilizes CFTR through deubiquitination, thereby activating PMCA, which inhibits calcium/chloride overload and mitochondrial oxidative stress in senescent cardiomyocytes, ultimately alleviating cardiomyocyte senescence. ABSTRACT Cardiomyocyte senescence drives cardiovascular disease, underscoring the need to define its molecular mechanisms.
Chun Chen, Longtan Jiang, Yuewen Qiu, Chong Liu, Xiao Long, Pengcui Wu, Liang Li, Haixia Xu, Ping Deng, Li Yang, Qiao Jin   +10 more
wiley   +1 more source