Results 221 to 230 of about 99,627 (293)

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri   +26 more
wiley   +1 more source

First-in-Human Real-Time MR-Guided Ventricular Ablation for Idiopathic Outflow Tract Premature Ventricular Complexes.

open access: yesJAMA Cardiol
Götte MJW   +9 more
europepmc   +1 more source

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

open access: yesJournal 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

Catheter Ablation of Parahisian Premature Ventricular Complexes From the Right Sinus of Valsalva. [PDF]

open access: yesJ Cardiovasc Electrophysiol
Ghannam M   +9 more
europepmc   +1 more source

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

open access: yesThe 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

open access: yesMedComm, 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

Epicardial access for ventricular tachycardia and premature ventricular complexes ablation: An institutional experience. [PDF]

open access: yesHeart Rhythm O2
Vemulapalli HS   +6 more
europepmc   +1 more source

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