The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Background: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.

Objectives: In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.

Methods: A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing.

Accreditation as a lever for change in the development of the collaborative practitioner in the Australian health system.

Objective Patient expectations in the Australian healthcare system are for coordinated, collaborative practice. There is a need for education institutions, health services, accreditation authorities, and consumers to work together to achieve this goal. As part of a larger body of work, we sought to understand how these stakeholders contribute to the development of collaborative healthcare practice.

Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India.

Purpose: Multiple Endocrine Neoplasia (MEN) is a group of familial cancer syndromes that encompasses several types of endocrine tumors differentiated by genetic mutations in RET, MEN1 and CDKN1B genes. Accurate diagnosis of MEN subtypes can thus be performed through genetic testing. However, MEN variants remain largely understudied in Indian populations.

Spectrum of rare and common mitochondrial DNA variations from 1029 whole genomes of self-declared healthy individuals from India.

Mitochondrial disorders are a class of heterogeneous disorders caused by genetic variations in the mitochondrial genome (mtDNA) as well as the nuclear genome. The spectrum of mtDNA variants remains unexplored in the Indian population. In the present study, we have cataloged 2689 high confidence single nucleotide variants, small insertions and deletions in mtDNA in 1029 healthy Indian individuals.

Addressing pandemic-wide systematic errors in the SARS-CoV-2 phylogeny.

The SARS-CoV-2 genome occupies a unique place in infection biology - it is the most highly sequenced genome on earth (making up over 20% of public sequencing datasets) with fine scale information on sampling date and geography, and has been subject to unprecedented intense analysis. As a result, these phylogenetic data are an incredibly valuable resource for science and public health. However, the vast majority of the data was sequenced by tiling amplicons across the full genome, with amplicon schemes that changed over the pandemic as mutations in the viral genome interacted with primer binding sites.

Integrated electrochemical CO reduction and hydroformylation.

The development of integrated multi-catalyst processes has become of high interest to transform abundant feedstocks or environmental pollutants to commodity chemicals in a one pot, one pass fashion. Specifically, CO poses a large environmental burden and would thus be a desirable, relatively abundant C1 source in multi-step synthetic chemistry. Herein we disclose the synthesis of aldehydes from CO the integration of electrochemical CO reduction (CORR) and hydroformylation, taking advantage of the typically unwanted concomitant hydrogen evolution (HER) to generate the necessary CO and H needed for hydroformylation.

Landscape of pharmacogenetic variants associated with non-insulin antidiabetic drugs in the Indian population.

Introduction: Genetic variants contribute to differential responses to non-insulin antidiabetic drugs (NIADs), and consequently to variable plasma glucose control. Optimal control of plasma glucose is paramount to minimizing type 2 diabetes-related long-term complications. India's distinct genetic architecture and its exploding burden of type 2 diabetes warrants a population-specific survey of NIAD-associated pharmacogenetic (PGx) variants.

Large-Scale Telemedicine Implementation for Outpatient Clinicians: Results From a Pandemic-Adapted Learning Collaborative.

Learning collaboratives are seldom used outside of health care quality improvement. We describe a condensed, 10-week learning collaborative ("Telemedicine Hack") that facilitated telemedicine implementation for outpatient clinicians early in the COVID-19 pandemic. Live attendance averaged 1688 participants per session.

The genomic landscape of variation in the Indian population.

The gene is highly polymorphic, causing large interindividual variability in the metabolism of several clinically important drugs. The authors investigated the diversity and distribution of alleles in Indians using whole genome sequences (N = 1518). Functional consequences were assessed using pathogenicity scores and molecular dynamics simulations.

Effectiveness of Xpert MTB/RIF and the Line Probe Assay tests for the rapid detection of drug-resistant tuberculosis in the Central African Republic.

The Xpert MTB/RIF and Line Probe Assay (LPA) tests are more and more frequently used in mycobacteria testing laboratories for the rapid diagnosis of multi-drug resistance (MDR-TB). In this study, we demonstrate the effectiveness of these tests in the Central African Republic. Rifampicin resistance cases detected by the Xpert MTB/RIF during the year 2020 are also underwent first- and second-line LPA, and a first-line of drug susceptibility testing (DST) on solid medium and we compared these results.

The genome sequence of lumpy skin disease virus from an outbreak in India suggests a distinct lineage of the virus.

Although previously confined to regions within Africa, lumpy skin disease virus (LSDV) infections have caused significantly large outbreaks in several regions of the world in recent years. In 2019, an outbreak of the disease was reported in India with low rates of morbidity and no reported mortality. However, in 2022, an ongoing outbreak of LSDV spanning over seven states in India resulted in the loss of over 80,000 cattle over a period of three months.

Genetic landscape of human neutrophil antigen variants in India from population-scale genomes.

Antibodies against human neutrophil antigens (HNAs) play a significant role in various clinical conditions such as neonatal alloimmune neutropenia, transfusion-related acute lung injury, and other nonhemolytic transfusion reactions. This study aims to identify the genotype and allele frequencies of HNAs in the healthy Indian population. Ten genetic variants in four human genes encoding alleles of HNAs class I-V approved by the International Society of Blood Transfusion-Granulocyte Immunobiology Working Party were used in the analysis.

1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Background: The prevalence and genetic spectrum of cardiac channelopathies exhibit population-specific differences. We aimed to understand the spectrum of cardiac channelopathy-associated variations in India, which is characterised by a genetically diverse population and is largely understudied in the context of these disorders.

Results: We utilised the IndiGenomes dataset comprising 1029 whole genomes from self-declared healthy individuals as a template to filter variants in 36 genes known to cause cardiac channelopathies.

Inpatient Rehabilitation during Intensive Refeeding in Severe Anorexia Nervosa.

Severe forms of anorexia nervosa are responsible for weight loss and life-threatening consequences. Refeeding represents a real psychiatric and somatic challenge. Physical activities are usually not recommended during intensive refeeding in order to avoid energy expenditure.

A generalized kinetic model for compartmentalization of organometallic catalysis.

Compartmentalization is an attractive approach to enhance catalytic activity by retaining reactive intermediates and mitigating deactivating pathways. Such a concept has been well explored in biochemical and more recently, organometallic catalysis to ensure high reaction turnovers with minimal side reactions. However, the scarcity of theoretical frameworks towards confined organometallic chemistry impedes broader utility for the implementation of compartmentalization.

Measuring the Impact of a Faculty Development Program on Clinical Educators.

Introduction: An Academy of Clinical Educators (ACE) was established at the University of Newcastle, to support and build capacity among existing and prospective medical educators. ACE established a Certificate of Clinical Teaching and Supervision (CCTS) program, the final assessment of which was a reflective piece on how the course has affected participants' practice as clinical teachers or supervisors and how changes are expected to impact learner achievement. We conducted a qualitative evaluation of these to explore the impact of the CCTS on participants' teaching.