Serum metabolomic signatures of patients with rare neurogenetic diseases: an insight into potential biomarkers and treatment targets.

Introduction: To further advance our understanding of Muscular Dystrophies (MDs) and Spinocerebellar Ataxias (SCAs), it is necessary to identify the biological patterns associated with disease pathology. Although progress has been made in the fields of genetics and transcriptomics, there is a need for proteomics and metabolomics studies. The present study aimed to be the first to document serum metabolic signatures of MDs (DMD, BMD, and LGMD 2A) SCAs (SCA 1-3), from a South Asian perspective.

Synthesis and X-ray evaluation of 7 N-1S thiabendazole based 1,2,3-triazole as a dual metal sensing probe: Molecular logic gate construction, DFT analysis, real water sample analysis and catalytic activity investigation of its metal complexes.

The research aimed to develop of a thiabendazole-derived dual metal sensing probe (TBZT) for the selective detection of metal ions and to explore its metal complexes in reducing environmental pollutants like nitro-phenol and dyes. Absorption and emission based studies predicted the selectivity and sensitivity of TBZT towards Ni(II) and Co(II) ions which was further validated by HNMR, Mass, FT-IR, DFT, Docking, electrochemical, TGA studies and vibrating sample magnetometer analysis techniques. Limit of detection (LOD) values were calculated as 2 × 10 M and 4.

Age-Related Ventricular Tachycardia Substrate Characteristics for Repaired Tetralogy of Fallot Before Transcatheter Pulmonary Valve Placement.

Background: Ventricular tachycardia (VT) substrate characteristics before transcatheter pulmonary valve replacement (TPVR) in repaired tetralogy of Fallot (rTOF) are unknown.

Objectives: In this study, the authors sought to evaluate substrates for sustained monomorphic VT before TPVR in rTOF.

Methods: Retrospective (2017 to 2021) and prospective (commencing 2021) rTOF patients with native right ventricular outflow tract referred for electrophysiology study (EPS) before TPVR were included.

Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.

In 2021, the Indian Undiagnosed Diseases Program was initiated for patients without a definite diagnosis despite extensive evaluation in four participating sites. Between February 2021 and March 2023, a total of 88 patients were recruited and underwent deep phenotyping. A uniform methodology for data re-analysis was implemented as the first step prior to conducting additional genomic testing.

Randomized comparison of precut papillotomy and endosonography guided rendezvous procedure for difficult biliary access in Malignant distal biliary obstruction.

Background And Aims: Difficult biliary cannulation (DBC) is a marker for prolonged procedure time and increased adverse event rate (AER) during endoscopic retrograde cholangiopancreatography (ERCP). We previously showed that EUS-guided rendezvous procedure (EUS-RV) had a higher single session success rate than precut papillotomy (PcP) in DBC patients. The present randomized study aims at comparing the technical success and AER between the two approaches.