First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
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
Extreme hypercalcemia secondary to parathyroid adenoma obscured by excessive coffee consumption and premature ventricular complexes. [PDF]
Avidan Y, Kassem S.
europepmc +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
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]
Ghannam M +9 more
europepmc +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
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
Correspondence on 'Estimated sodium intake and premature ventricular complexes: data from the population-based Swedish CArdioPulmonary bioImage study' by Economou Lundeberg et al. [PDF]
Campbell NRC.
europepmc +1 more source
Ischemia–Reperfusion Injury: Molecular Mechanisms and Therapeutic Interventions
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]
Vemulapalli HS +6 more
europepmc +1 more source

