Exploring Therapeutic Strategies for Pediatric Cystic Fibrosis: An In-Depth Comparative Review.

Cystic fibrosis (CF) is a genetic disorder that profoundly affects the respiratory and digestive systems, particularly in pediatric patients. This comprehensive review aims to conduct a comparative analysis of various treatment modalities employed in the management of CF in children. We systematically evaluated current literature focusing on pharmacological interventions, airway clearance techniques, nutritional management, and emerging therapies, including gene therapy and personalized medicine.

Impact of genetic variants on fentanyl metabolism in major breast surgery patients: a candidate gene association study.

Aim: The study aimed to examine the association of two selected candidate SNPs rs2242480 (CYP3A4) and rs1045642 (ABCB1) with metabolic ratio of plasma norfentanyl to fentanyl concentrations in patients undergoing major breast surgeries.

Methods: The retrospective cross-sectional study was done in 257 female patients. DNA extraction, genotyping of selected SNPs, and drug levels measurement were employed.

Sympathetic Overdrive and Role of Beta-blockers in Various Forms of Heart Failure: A Consensus Statement from India.

In heart failure, sympathetic overdrive is evidenced by norepinephrine spillover, receptor level changes, etc. Beta-blockers continue to be the cornerstone of treatment in patients with chronic heart failure due to their ability to counteract sympathetic overdrive. Extensive clinical research has demonstrated that long-term beta-blocker treatment with metoprolol succinate, carvedilol, or bisoprolol enhances left ventricular function and reverses left ventricular remodeling, decreases hospitalization risk, and increases survival.

Twofold Expression of Receptor Tyrosine Kinase 2 (ROR2) in Giant Cell Tumors of Bone: Outcome of a Case‒Control Study.

Suppression or overexpression of transmembrane proteins of the Wnt family and receptor tyrosine kinases (ROR1 and ROR2) is implicated in the causation of cancer. The objective of this study was to determine the expression of ROR2 in patients with giant cell tumor of bone (GCT) by quantitative PCR (qPCR). In this case‒control study, samples of tumor tissue (patients) and bone from the tumor-free margin (controls) were subjected to qPCR in patients who underwent definitive treatment.

Native kidney biopsy in pregnancy and postpartum: A single centre experience from India.

Background: With the advances in medicine and imaging, renal biopsy is increasingly utilised for identifying pathologies during pregnancy.

Methods: This retrospective observational study aimed to assess indications and complications among 32 women who underwent native renal biopsies during pregnancy and postpartum from 2015 to 2022.

Results: The commonest indications for performing the biopsy were nephrotic syndrome and acute kidney injury during pregnancy or immediately postpartum.

Thinking politically about intersectoral action: Ideas, Interests and Institutions shaping political dimensions of governing during COVID-19.

Our paper examines the political considerations in the intersectoral action that was evident during the SAR-COV-2 virus (COVID-19) pandemic through case studies of political and institutional responses in 16 nations (Australia, Belgium, Brazil, Ethiopia, India, New Zealand, Nigeria, Peru, South Africa, South Korea, Spain, Taiwan, Thailand, Vietnam, UK, and USA). Our qualitative case study approach involved an iterative process of data gathering and interpretation through the three Is (institutions, ideas and interests) lens, which we used to shape our understanding of political and intersectoral factors affecting pandemic responses. The institutional factors examined were: national economic and political context; influence of the global economic order; structural inequities; and public health structures and legislation, including intersectoral action.

BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants.

As genetic testing becomes increasingly accessible and affordable, the uniform and accurate interpretation of genetic variants becomes essential. The ACMG/AMP joint guidelines provide the basis for systematic and uniform interpretation of pathogenicity of genetic variants. However, the application of these in routine clinical interpretation at-scale has largely been limited by the lack of resources providing harmonized data especially at a population-scale.

Association of Low Vitamin D Status With Adiponectin and Fibroblast Growth Factor-21 in Newly Diagnosed Type 2 Diabetes Mellitus Patients.

Introduction: Adiponectin and fibroblast growth factor-21 (FGF-21) have important roles in metabolic regulation and insulin sensitivity. Vitamin D is linked to metabolic dysregulation, inflammation, and oxidative stress in chronic type 2 diabetes mellitus (T2DM). The present study aimed to assess the relationship of vitamin D levels with adiponectin and FGF-21 in newly diagnosed T2DM.

Analysis of Tumor Proliferation Markers in Early-Stage Luminal Breast Cancer: A Comprehensive Study Using Mitotic Activity Index, Ki-67, and Phosphohistone H3 Expression.

Routinely used proliferation markers such as mitotic activity index (MAI) and Ki-67 index show limited reproducibility due to high interobserver variability in breast cancer assessment. Phosphohistone H3 (PhH3), a novel proliferation marker, is gaining attention in breast cancer research. This study aimed to evaluate the inter-rater agreement among MAI, Ki-67, and PhH3 expressions in early-stage luminal breast cancer and assess the impact of replacing MAI with PhH3 index on tumor histological grading.

Occurrence of protease-like catalytic activity in the polyclonal IgG in schizophrenia and bipolar disorder.

Neuro-immune dysfunction and inflammation are said to be involved in the aetiology of major mental illnesses. This study describes the assessment of the protease-like catalytic function of serum IgG in psychiatric disorders, schizophrenia and bipolar disorder, along with healthy controls of Indian ethnicity. Systemic lupus erythematosus patients experiencing neuropsychiatry conditions were included as comparators for the comprehensive evaluation of IgG catalytic function.

Reference gender-specific neonatal size at birth growth curves for singleton and twin neonates from North India.

Objectives: To construct reference growth curves for the preterm population from North India and compare it with global charts.

Methods: This prospective study enrolled preterm neonates (23 to 36 weeks) from July 2018 to August 2019 after excluding stillbirths and those with congenital malformations. Anthropometry was performed within 18 hours of birth.

C3 glomerulopathy: a kidney disease mediated by alternative pathway deregulation.

C3 glomerulopathy (C3G) is an ultra-rare complement-mediated kidney disease caused by to the deregulation of the alternative pathway (AP) of proximal complement. Consequently, all effector loops of the complement are active and can lead to pathologies, such as C3a- and C5a-mediated inflammation, C3b opsonization, surface C3b-mediated AP C3 convertase assembly, C3 cleavage product deposition in the glomerulus, and lytic C5b-9/MAC cell damage. The most common pathologic mechanisms are defective chronic alternative pathway deregulation, mostly occurring in the plasma, often causing C3 consumption, and chronic complement-mediated glomerular damage.

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.

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.

[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.

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.