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.

Microbiological Concordance of Subglottic Secretion and Tracheal Aspirate Cultures of Critically Ill Patients with Invasive Airway Devices: A Prospective Observational Study.

Background: Development of ventilator-associated pneumonia (VAP) is attributed to the microaspiration of pooled secretions around the cuff of airway devices. Despite the emphasis on the use of endotracheal tubes (ET) with subglottic secretion (SS) drainage ports to prevent VAP, the quality of the evidence for this recommendation remains moderate. This prospective observational study analyzed microbiological concordance between SS and endotracheal aspirate (ETA) cultures to generate further evidence in this regard.

Microbial crosstalk with dermal immune system: A review on emerging analytical methods for macromolecular detection and therapeutics.

According to global health metrics, clinical symptoms such as cellulitis and pyoderma associated with skin diseases are a significant burden worldwide, affecting 2.2 million disability-adjusted life years in 2020. There is a strong correlation between the commensal bacteria and the host immune system.

Nanostructured bismuth ferrite nanoparticles: synthesis, characterization, electrical/magnetic properties and photocatalytic performance.

Nanostructured bismuth ferrite (BiFeO) single-phase nanoparticles with 76.2% crystallinity and 100% perovskite structure were synthesized using a co-precipitation method. The X-ray diffraction pattern confirmed the perovskite structure of BFO, and Rietveld refinement demonstrated the presence of a triclinic structure with the 1 space group.

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.

Purpose: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome or panel sequencing datasets aligned to a GRCh37, GRCh38, or T2T reference genome.

Methods: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs.

Prediction Model for Unfavorable Outcome in Primary Decompressive Craniectomy for Isolated Moderate to Severe Traumatic Brain Injury in India: A Prospective Observational Study.

Objective: Traumatic brain injury (TBI) prediction models have gained significant attention in recent years because of their potential to aid in clinical decision making. Existing models, such as Corticosteroid Randomization after Significant Head Injury and International Mission for Prognosis and Analysis of Clinical Trials, are currently losing external validity and performance, probably because of their diverse inclusion criteria and changes in treatment modalities over the years. There is a lack of models that predict outcomes strictly pertaining to primary decompression after TBI.

Neurodevelopmental Disorder Caused by Deletion of , a lncRNA Gene.

encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Objective: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD.

Ultrasound-Compatible Electrode for Functional Electrical Stimulation.

Functional electrical stimulation (FES) is a vital method in neurorehabilitation used to reanimate paralyzed muscles, enhance the size and strength of atrophied muscles, and reduce spasticity. FES often leads to increased muscle fatigue, necessitating careful monitoring of the patient's response. Ultrasound (US) imaging has been utilized to provide valuable insights into FES-induced fatigue by assessing changes in muscle thickness, stiffness, and strain.

Atypical carcinoid tumour of the larynx.

A man in his 80s with long-standing left-sided throat discomfort presented with hypophonia and odynophagia. A flexible nasoendoscopy revealed a supraglottic mass in the left arytenoid. An urgent microlaryngoscopy and biopsy demonstrated a supraglottic laryngeal tumour consistent with atypical carcinoid on histopathological examination.

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Objective: The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts of arms and legs. Recently, variants in a new disease gene, ACTN2, have been shown to cause distal myopathy.

Regioselective C(sp) Carboboration of 1,3-Diynes: A Direct Route to Fully Substituted Enyne Boronates.

Here, we report a general copper-catalyzed C(sp) carboboration of 1,3-diynes, providing access to an array of tetra-substituted boryl enynes in a regioselective manner. All four positions of enyne can be efficiently manipulated using this methodology. The reaction was smoothly applied in the conjugation of complex bioactive molecules to the enyne scaffold.

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

Introduction/aims: Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis-like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies. We report two unrelated individuals with monoallelic stop loss variants affecting the same codon of HNRNPA1.

Glucagon-like peptide-1 receptor agonists in adolescents with overweight or obesity with or without type 2 diabetes multimorbidity-a systematic review and network meta-analysis.

Aim: To synthesize the evidence on the effects of glucagon-like peptide-1 receptor agonists (GLP-1RAs) in adolescents with overweight or obesity.

Materials And Methods: For this systematic review and network meta-analysis, we searched five databases and registries until 2 March 2024 for eligible randomized controlled trials (RCTs). The primary outcome was weight change.

Comparison of Response First Technique with Reversal First Technique for Quality of Extubation in Patients Undergoing Transsphenoidal Pituitary Surgery: A Randomized Clinical Trial.

Background And Objective: Early and smooth extubation following anesthesia is an important concern in patients undergoing transsphenoidal pituitary surgery to permit early neurological evaluation and prevent complications. The aim was to compare the RESPONSE FIRST and REVERSAL FIRST techniques for quality of extubation (QOE) in patients undergoing endoscopic transsphenoidal pituitary surgery.

Methods: Fifty-six patients aged 18-60 years, with American Society of Anesthesiologists Physical Statuses I-II, and undergoing transsphenoidal surgery for pituitary tumors were randomized into either the RESPONSE FIRST group, in which neuromuscular reversal was given following the patient's response to oral commands, or the REVERSAL FIRST group, in which reversal of neuromuscular blockade (NMB) was given at the return of spontaneous respiration.

Diastereoselective Synthesis of Cyclopenta[]chromanones via Pd-Catalyzed [3+2] Cycloaddition.

A straightforward method for synthesizing cyclopenta[]chromanones is demonstrated. The strategy involves a [3+2] cycloaddition of VCPs and activated coumarins under Pd-catalyzed conditions. The reaction provides the desired products bearing up to four consecutive stereocenters with high diastereocontrol.

Effect of microbubble as local drug delivery system in endodontic management - An study.

Background And Objectives: Microbubbles (MBs) are gas or vapor-filled cavities inside liquids with sizes ranging from 2 to 3 µm. Recently, MBs have shown great promise in nanomedicine owing to their high encapsulation efficiency, targeted drug release, improved biocompatibility, and longer blood circulation. Furthermore, they are more suitable for focusing on particular body regions and are safer and non-invasive.