Results 231 to 240 of about 45,943 (292)
Premature ventricular complexes ablation: A trip to the accuracy
Cardiology Journal, 2016 openaire +3 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 +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 +3 more
wiley +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 +4 more
wiley +1 more source
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 +7 more
wiley +1 more source
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 +10 more
wiley +1 more source
Annals of Noninvasive Electrocardiology, Volume 31, Issue 4, July 2026.Interpretation of electrocardiograms (ECGs) using an algorithm can improve the detection and diagnosis of atrioventricular blocks in clinical practice. The proposed algorithm, with its high accuracy and structured approach, can help both experienced and less‐experienced healthcare professionals interpret ECGs with more precision, leading to early ...
Ali A. Ashkanani +4 more
wiley +1 more source