Advances in accessing rare oxidation states of nickel for catalytic innovation.

Nickel catalysis has experienced a renaissance over the past two decades, driven by its ability to access diverse oxidation states (0 to +4) and unique reactivity. This review consolidates the advancements in nickel chemistry, providing an overview of ligands that stabilize specific nickel oxidation states. The stability, reactivity, and catalytic applications of Ni sources, including generation from air- and moisture-stable Ni precursors, are discussed, along with the roles of Ni and Ni intermediates in catalytic cycles.

Influential Factors on Survival in Laryngeal Cancer and Treatment Modalities Comparison.

Introduction Laryngeal cancer (LC) is the most common malignancy in otolaryngology, comprising 30-40% of head and neck malignancies. With an increasing incidence worldwide over the past few decades, LC has resulted in substantial strain on the NHS. There have been notable advancements in the treatment of LC over the years, particularly with the adoption of non-surgical methods, which emerged after the 1991 study conducted by the Veterans Affairs.

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

RNA-sequencing has improved the diagnostic yield of individuals with rare diseases. Current analyses predominantly focus on identifying outliers in single genes that can be attributed to cis-acting variants within the gene locus. This approach overlooks causal variants with trans-acting effects on splicing transcriptome-wide, such as variants impacting spliceosome function.

Effect of isotonic sodium bicarbonate infusion on perioperative acid-base status among patients undergoing emergency laparotomy for perforation peritonitis (ISABEL trial): a randomized controlled trial.

Purpose: Perioperative metabolic acidosis negatively affects patient outcomes. Perioperative fluid therapy has a clinically significant effect on acid-base balance. This study was conducted to evaluate the effects of isotonic sodium bicarbonate infusion (ISB) versus balanced crystalloid solution (BCS) on perioperative acid-base balance, in terms of postoperative base excess, among patients undergoing emergency laparotomy for perforation peritonitis.

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants.

Methods: Using dedicated pipelines to address the technical challenges posed by the mtDNA - circular genome, variant heteroplasmy, and nuclear misalignment - single nucleotide variants, small indels, and large mtDNA deletions were called from exome and genome sequencing data, in addition to RNA-sequencing when available.