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.

Assessing the impact of ecological, climatic, and socioeconomic factors on age-specific malaria incidence in India: a mixed-model approach using the Global Burden of Disease Study (2010-2019).

Background: Malaria continues to be a critical public health concern in India, predominantly driven by complex interplays of ecological, climatic, and socioeconomic factors.

Methods: This study aimed to assess the association between climatic variables (temperature and precipitation) and malaria incidence across India from 2010 to 2019, utilizing data from the Global Historical Weather and Climate Data for climate metrics and the Global Burden of Disease Study for malaria incidence rates. Generalized Linear Mixed Models (GLMMs) with a Poisson distribution were employed to analyze the data, adjusting for socio-economic status, as indexed by the Human Development Index (HDI).

Efficacy and safety of three antiseptics for neonatal skin disinfection: a cohort study.

Background: The choice of the ideal antiseptic is not only based on its efficacy but also on safety and skin-friendliness. There are no standard recommendations regarding ideal skin preparation in neonates.

Methods: This was a prospective cohort study to evaluate the efficacy of 3 antiseptics[10% Povidone Iodine(PI), 70% isopropyl alcohol(AL), 2% chlorhexidine in 70% alcohol(CHG-IPA)] in disinfecting the skin before venipuncture in term neonates as assessed by logarithmic reduction in skin bacterial colony counts post-application.

Three-dimensional analysis of sella turcica morphology and dimensions in non-syndromic cleft lip and palate patients: A systematic review and meta-analysis.

Introduction: The dimensions and morphology of sella turcica (ST) are often altered in individuals with craniofacial anomalies, including those with cleft lip and palate (CLP). Therefore, the review aimed to identify the current evidence on the 3D morphological characteristics of the ST in patients with CLP.

Methods: A systematic literature search was conducted using different databases without language or publication date restrictions.

Nested multilevel modelling study of smoking and smokeless tobacco consumption among middle aged and elderly Indian adults: distribution, determinants and socioeconomic disparities.

Introduction: The Global Adult Tobacco Survey (GATS) shows a drop in tobacco use worldwide. Despite the drop, there still continues to be a significant number of tobacco users in India. Research on tobacco use among young persons is commonly prioritised in India, while studies on tobacco use among middle-aged (45-59 years) and elderly (≥ 60 years) adults are noticeably lacking.

[What's New in the CKD-BMD Therapy?].

The important advances in scientific knowledge have led to a notable enrichment of therapeutic offers in the field of CKD-MBD, which have allowed better control of the related biochemical parameters compared to the past. However, this has not corresponded to a tangible improvement in the clinical outcomes, both bone and cardiovascular, associated with CKD-MBD, nor has there been a significant drop in the number of pills that nephropathic patients must take, to keep the parameters controlled biochemicals, with the therapeutic cost of these interventions remaining high. All these unsatisfied needs continue to stimulate research to find new solutions that can improve one or more of these objectives not yet achieved.

Effect of increased systemic oxygen delivery on postoperative outcomes and quality of life in elderly undergoing major abdominal surgery: A randomised controlled trial.

Studies comparing the intentional increase in oxygen delivery and normal oxygen delivery during general anaesthesia in elderly patients undergoing major abdominal surgery are limited and have reported contradictory findings. Therefore, the study aimed to evaluate the effect of intraoperative increase in systemic oxygen delivery on postoperative outcomes and quality of life in elderly patients undergoing major abdominal surgery. This randomised, blinded, parallel-arm, pragmatic clinical trial included elderly patients of >60 years of age undergoing major abdominal surgery.

Framework for responsive financing of district hospitals of India.

Introduction: The current financing of public-sector district hospitals in India relies on historical budget allocations rather than actual utilization or healthcare needs. We utilized empirical data on healthcare delivery costs to develop the financing framework for these hospitals using a blended payment approach.

Methods: The primary data on cost of delivering services in 27 district hospitals across nine states of India was analysed along with indicators influencing the demand and supply of health services.

Dysbiosis and colonic adenoma: The lethal link?

Gut dysbiosis, a phenomenon in which the existing commensal microbiome changes to an adverse microenvironment in the colon, is thought to lead to altered cellular signals. How this is involved in producing mucosal outgrowths such as polyps in the colon is intriguing. Deciphering the various mechanisms involved provides an in-depth understanding of the link between gut dysbiosis and colonic polyps.

Pathogen-Directed Antimicrobial Stewardship Audit Rounds: Evaluation of an Objectively Planned, Clinical Microbiology-Driven Antimicrobial Stewardship Approach to Influence Antimicrobial Prescriptions of Prescribers.

Introduction: Correct and prompt antimicrobial prescription modifications by the treating team based on the culture and antimicrobial susceptibility test (AST) reports are crucial. Pathogen-directed antimicrobial stewardship (PD-AMS) audit rounds are a clinical microbiology-driven approach to combine prompt appropriate patient management goals with goals of preventing irrational and improper use of antimicrobials.

Methods: The study was a prospective before-after interventional study to evaluate the effectiveness of PD-AMS audit rounds in modifying antimicrobial usage by prescribers on an individual patient basis.

Prognostic Significance of T-Cells and Macrophages in the Tumour Microenvironment of Nodal DLBCL.

Revised International Prognostic (R-IPI) score is used widely for risk stratification of DLBCL cases, yet some patients belonging to same risk category tend to exhibit different outcomes. The role of T-cells and macrophages in prognostication of lymphomas has been a point of interest of late. We aimed to study the association of FOXP3 positive T-regulatory cells, cytotoxic T-cells and macrophages with the immunophenotypic subtypes, clinicopathological characteristics, treatment response and survival in nodal diffuse large B-cell lymphoma (DLBCL) patients.

Do Anatomical Variations of Sphenoid Sinus Influence Sella Exposure and Residual Disease in Pituitary Surgery? - A Study in an Indian Population.

 Endoscopic transsphenoidal surgery (ETS) is the standard practice in pituitary surgeries. The sellar exposure becomes the main factor which determines the residual disease in ETS. Not many studies can be found in the literature on the influence of anatomical variations of the sphenoid on intraoperative sella exposure.

Bilateral Pulmonary Arteriovenous Malformations: Challenges in a Rare and Complex Case.

Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between the pulmonary arteries and pulmonary veins. Despite their relatively uncommon incidence, PAVMs should be considered in the differential diagnosis of children presenting with cyanosis due to the life-threatening complications posed by paradoxical emboli. The primary management approach involves eliminating the abnormal connections, either through surgical or endovascular methods.

Efficacy and safety of coenzyme Q10 in heart failure: a meta-analysis of randomized controlled trials.

Background: The effectiveness and adverse effects of coenzyme Q10 for heart failure remain unclear owing to small sample sizes and variations in the quality of existing studies in literature.

Methods: The databases of EMBASE, PubMed, Web of Science, CINAHL databases, Scopus, Cochrane Central Register of Controlled Trials, VIP, Wanfang, and CNKI were searched for randomized controlled trials on the coenzyme Q10-assisted treatment of heart failure. Relevant literature was retrieved, data were extracted, and the risk of bias of the included studies was evaluated by two investigators independently using the Review Manager 5.

Role of baseline soluble tumor necrosis factor receptor 2 as a biomarker in primary podocytopathy: Implications for renal impairment and disease progression.

Background: Podocytopathies, including minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), and collapsing glomerulopathy (CG), are kidney diseases that damage glomerular podocytes, leading to heavy proteinuria and nephrotic syndrome (NS). Inflammation plays a critical role in the progression of chronic kidney disease (CKD), with recent studies linking inflammatory biomarkers to declining kidney function. Tumor necrosis factor-alpha (TNF-α), an essential inflammatory cytokine, interacts with its circulating receptors, TNFR1 and TNFR2.

Accuracy of various matrix assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS)-based rapid identification methods-As a tool to augment diagnostic stewardship in blood culture laboratory, South India.

Background: Blood stream infection is a medical emergency associated with high morbidity and mortality. Prompt identification of bloodstream infection-causing microorganisms directly from positive blood culture will significantly enhance patient care by reducing the turnaround time of pathogen recognition.

Methods: A total of 256 freshly flagged positive blood culture bottles were subjected to Gram staining.