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.

Assessing the Comprehensibility and Trustworthiness of Online Tracheostomy Care Resources.

Tracheostomy is a surgical procedure to create an opening in the neck to insert a tube into the trachea to help a person breathe. Proper cleaning and care of the tracheostomy tube is vital to prevent infections. Patients frequently use the internet to learn about tracheostomy tube care before and after the procedure.

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.

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.

Rights-based reproductive services in medical schools in Rajasthan, Gujarat and Chandigarh, India: baseline findings of mixed-methods implementation research.

Introduction: There is a need to assess and strengthen reproductive rights-based family planning and abortion services in Indian medical schools that play a key role in medical education and service delivery. This study presents the findings of baseline assessment across nine schools in two states and one union territory with objective to assess, identify the gaps and improve the status of reproductive rights and evidence-based family planning and abortion services in Indian medical schools.

Methods: A convergent parallel mixed methods study was conducted in nine medical schools in Rajasthan, Gujarat, and Chandigarh a Union territory in India from October 2018 to June 2019.

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.

Efficacy and Safety of Biosimilar Cetuximab Versus Innovator Cetuximab in Indian Patients With Head and Neck Cancer: A Multicenter, Randomized, Double-Blind, Phase III Trial.

Purpose: Squamous cell carcinoma of the head and neck (SCCHN) is the sixth most common cancer, with approximately 225,419 new cases with over 125,000 deaths annually in India. This trial compared the efficacy and safety of biosimilar cetuximab versus innovator cetuximab (IC) in combination with platinum-based chemotherapy in patients with recurrent locoregional or metastatic SCCHN.

Methods: This phase III trial is a multicenter, randomized, double-blind and parallel group study performed in Indian patients with recurrent locoregional or metastatic SCCHN.

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.

Report from the World Health Organization's immunization and vaccines-related implementation research advisory committee (IVIR-AC) meeting, virtual gathering, 10-13 September 2024.

The Immunization and Vaccines-related Implementation Research Advisory Committee (IVIR-AC) is the primary advisory body of the World Health Organization conducting independent reviews of immunization-related implementation research, with a primary focus on transmission and economic modeling analyses that estimate the value and impact of vaccines. From 10 to 13th September 2024, IVIR-AC convened virtually for its second of two semi-annual meetings to provide feedback and recommendations across six sessions including: pneumococcal vaccination strategies that rely on indirect protection; vaccine impact modeling for chikungunya; The Lancet Commission on strengthening the use of epidemiological modeling of emerging and pandemic infectious diseases; methods for immunization coverage estimation; setting immunization research priorities in the South-East Asian Region; and modeling evidence related to typhoid conjugate vaccine schedules. This report summarizes the sessions, proceedings, and recommendations from that meeting.

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.

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.