Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?

Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age.

Challenges in Implementing Competency-based Medical Education in India - Stakeholders' Perspective: A Mixed-method Analysis.

Introduction: Competency-based Medical Education (CBME) was introduced in the year 2019 in India. It has brought about major changes in medical education. The curriculum is learner centric, outcome based, focuses on the development of core competencies and professionalism.

Influence of prolong curing, freeze thaw cycles on strength and compaction condition on water retention behaviour of bamboo biochar amended soils.

Biochar has emerged as a promising soil amendment material, offering the potential to enhance mechanical and water retention properties. Geo-environmental structures constructed with biochar-amended soils (BAS) might experience a change in strength and water retention capacity due to extreme climactic changes, resulting in structural failures. The existing literature lacks a comprehensive study on the strength of BAS under prolonged curing, freeze-thaw cycles, and water retention behaviour for varying compaction conditions.

Effect of pantoprazole as an adjunct to standard medical therapy in patients with uncomplicated amoebic liver abscess: A randomised pilot study.

Amoebic liver abscess (ALA), a common tropical infection, is caused by (EH). For decades, the first-line treatment for ALA has been metronidazole which has several drawbacks. The thioredoxin reductase enzyme in EH is essential for its anti-oxidative defence and survival during tissue invasion.

Revisiting surfactant protein D: an immune surveillance molecule bridging innate and adaptive immunity.

Surfactant protein D (SP-D) is a C-type lectin that was originally discovered as a lung surfactant associated phospholipid recognising protein. It was originally shown to be of great importance in surfactant turnover and homeostasis in conjunction with another hydrophilic surfactant protein i.e.

Factor structure, reliability and validity of an Indian Scale for Assessment of Nomophobia (ISAN) among college students: A multicentre Indian study.

Background: The current severity assessment measures for nomophobia have issues related to clinical applicability, which makes them difficult to be consistently applied in the Indian context. We aimed to develop a valid and reliable instrument for the assessment of severity of Nomophobia.

Methods: This study was a two-phase, exploratory sequential mixed method design conducted across three centres in India.

An innovative semiconducting Ni(II)-metallogel based robust random access memory (RRAM) device for advanced flexible electronics applications.

A highly effective method for creating a supramolecular metallogel of Ni(II) ions (NiA-TA) has been developed in our work. This approach uses benzene-1,3,5-tricarboxylic acid as a low molecular weight gelator (LMWG) in DMF solvent. Rheological studies assessed the mechanical properties of the Ni(II)-metallogel, revealing its angular frequency response and thixotropic behaviour.

Advancing Treatment for Leishmaniasis: From Overcoming Challenges to Embracing Therapeutic Innovations.

Protozoan parasite infections, particularly leishmaniasis, present significant public health challenges in tropical and subtropical regions, affecting socio-economic status and growth. Despite advancements in immunology, effective vaccines remain vague, leaving drug treatments as the primary intervention. However, existing medications face limitations, such as toxicity and the rise of drug-resistant parasites.

ICMR-MDRF Diabetes Biosamples: Cohort profile.

Background & objectives Biobanks are crucial for biomedical research, enabling new treatments and medical advancements. The biobank at the Madras Diabetes Research Foundation (MDRF) aims to gather, process, store, and distribute biospecimens to assist scientific studies. Methods This article details the profile of two cohorts: the Indian Council of Medical Research-India Diabetes (ICMR-INDIAB) study and the Registry of people with diabetes in India with young age at onset (ICMR-YDR).

Stem cell therapy approaches for non-malignant diseases & non-haematological diseases in India: A systematic review.

Background & objectives Our study aims to provide the diversity of stem cell use for non-malignant, non-haematological diseases in India through the lens of clinical trials. Methods A PRISMA approach was used to evaluate the safety and efficacy of stem cell use for the period 2001-2021 in India. The outcomes were measured using each disease category, types of stem cells, the origin of stem cells, safety, and efficacy.

Assessing Serum Lipid Levels in Patients Diagnosed With Primary Open-Angle Glaucoma.

Purpose Of The Study: The main purpose of this study is to assess serum lipid levels in patients diagnosed with primary open-angle glaucoma (POAG). The secondary objective is to explore the association between these lipid levels, namely serum cholesterol, serum triglycerides, serum low-density lipoprotein (LDL), and serum high-density lipoprotein (HDL), and the development of POAG.

Background: Glaucoma is a major contributor to global blindness, with elevated intraocular pressure as a key risk factor.

Designing a summative assessment blueprint in community medicine: an expert consensus approach at All India Institute of Medical Sciences.

Background: Despite the increasing integration of competency-based education in medicine, there remains a significant gap in effectively assessing educational outcomes, underscoring the urgent need for designed assessment blueprints that accurately reflect both curriculum content and competency standards in Community Medicine for undergraduate students. This study, conducted across the All-India Institute of Medical Sciences (AIIMS) network, develops a summative assessment blueprint aimed at standardizing evaluations in medical education across diverse geographic locations in India.

Methods: Twenty-five experts from 10 All India Institutes of Medical Science were invited via email and contributed for summative assessment for a theory paper.

Vibronic Interactions in the Photoelectron Spectra of CAlGe: A Theoretical Study.

This study probes the vibronic interactions in the photoelectron spectra of CAlGe, exploring its six excited electronic states through an approach that combines the electronic structure calculations and the quantum nuclear dynamics. Central to this investigation is utilizing a model diabatic Hamiltonian, which allows for the exact evaluation of Hamiltonian parameters and fitting potential energy cuts (PECs). Notably, the analysis of these PECs uncovers pronounced nonadiabatic effects within the photoelectron spectra, emphasized by the presence of multiple conical intersections.

Gender, gestation, and birthweight-based differences in the timing of passage of first urine and meconium in neonates: A prospective observational study.

Introduction: The cut-off for referral to a higher center and further investigations for the delayed passage of first urine and meconium by a neonate have been traditionally kept after 48 hours of birth. There are very few studies regarding this in Indian neonates, and previous studies have relied primarily on the mother's recall of the event which may have led to recall bias. Therefore, through this study, we wanted to use hospital intake/output records to identify the risk factors that affect the timing of passage of first urine and stool in neonates delivered at our center and to find out if the cut-off of 48 hours to call it a delay is justifiable.

Gastrointestinal pathology in patients presenting with iron deficiency anaemia: A single-centre cross-sectional study.

Background: About a third of the world's population is estimated to suffer from anaemia, and iron deficiency is expected to account for about half of all anaemia cases. This study was designed to get an estimate of the proportion of patients with iron deficiency anaemia (IDA) who have a significant gastrointestinal (GI) pathology, in particular a GI malignancy, and to identify any risk factors or predictors for the same.

Methods: This cross-sectional study was conducted at a hospital in Eastern India.

Knowledge, attitude, and experience of dentists toward child abuse and neglect. A cross-sectional study.

Context: Child abuse and neglect can be described as all kinds of physical, emotional, and sexual abuse, neglect, commercial and/or any other type of exploitation resulting in any potential of causing hurt or an actual form of harm to a child's general health, growth, survival, and dignity. The dentist is in a position to identify physical signs of physical abuse in a child hence, it is important to gauge the knowledge level and perception regarding child abuse and neglect.

Aim: The aim of the present study was to ascertain the knowledge, attitude, and experience regarding child abuse and neglect among dentists in India.

A novel Alzheimer detection rapid-testing low-cost technique by a gate engineered gate stack dual-gate FET device.

This study explores a quick, low-cost method to detect Alzheimer's disease (AD) by evaluating the accomplishment of a Gate-Stack (GS) Field Effect Transistor (FET). We investigate Single-Metal (SM), Dual-Metal (DM), and Tri-Metal Double Gate (DG) configurations, where cavities have been created by etching the oxide layer underneath the gate to immobilize grey matter samples collected through Solid-phase microextraction (SPME). Healthy and AD-affected grey matter have different dielectric characteristics at high frequencies.

Geo-spatial analysis of acute ischemic stroke reperfusion treatment in India: An assessment of distribution and access to centers.

Background: Stroke is a leading cause of global mortality and disability, with a disproportionately high burden in low- and middle-income countries. Access to intravenous thrombolysis (IVT) and endovascular treatment (EVT) remains extremely limited.

Aims: We evaluated the spatial distribution and geographic accessibility of stroke centers in India.

Intravitreal therapy for the management of diabetic retinopathy: A concise review.

Diabetic retinopathy (DR) is a serious microvascular complication of diabetes mellitus and may result in irreversible visual loss. Laser treatment has been the gold standard treatment for diabetic macular edema and proliferative diabetic retinopathy for many years. Of late, intravitreal therapy has emerged as a cornerstone in the management of DR.

Knowledge, Attitudes, and Practices Regarding Dog Bite and Its Management: A Cross-Sectional Study From the Rural Field Practice Area of Indira Gandhi Institute of Medical Sciences (IGIMS), Patna.

Introduction: Rabies continues to be a significant concern in India, with lots of deaths reported annually. Approximately one million people undergo post-exposure prophylaxis treatment annually, despite nearly two million dog bites occurring across the country. Notably, dogs are responsible for more than 99% of these bites.

Diabetic retinopathy: A review on its pathophysiology and novel treatment modalities.

Diabetes mellitus (DM) is a chronic metabolic non-communicable disease with the ability to cause serious microvascular and macrovascular complications throughout the body, including in the eye. Diabetic retinopathy (DR), present in one-third of patients with diabetes, is a vision-threatening complication caused by uncontrolled diabetes, which greatly affects the retinal blood vessels and the light-sensitive inner retina, eventually leading to blindness. Several epidemiological studies elucidate that DR can vary by age of onset, duration, types of diabetes, and ethnicity.

Regional disparities and correlates of alcohol use during pregnancy in India: Insights from the National Family Health Survey-5.

Introduction: Alcohol use during pregnancy is a significant public health concern due to its adverse outcomes for the mother and developing fetus. This study aims to estimate the national and state-wise prevalence of alcohol use during pregnancy in India and examine associated social, demographic and health-related correlates using data from the National Family Health Survey (NFHS-5) conducted in 2019-2020.

Methods: Data from NFHS-5, a large-scale, nationally representative survey, were analysed.