Thiamine responsive megaloblastic Anemia and deafness: A rare case of Roger's syndrome with successful hearing rehabilitation by cochlear implantation.

Thiamine responsive megaloblastic anemia (TRMA), also known as Roger's syndrome, is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein. This syndrome manifests as the classic triad of megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Here, we present the case of a one-and-a-half-year-old male infant born to non-consanguineous parents in India, a region where TRMA cases are seldom reported.

Mapping anti-diphtheria toxin antibody: a systematic review and meta-analysis with multi-level meta-regression.

Diphtheria is a reemerging vaccine-preventable infection of public health concern. Pooled estimates of serum IgG anti-diphtheria antibody levels can assist in estimating the susceptible population. The objective was to estimate pooled estimate of protective IgG anti-diphtheria antibodies in population globally.

Safety and immunogenicity of a pentavalent meningococcal conjugate vaccine versus a quadrivalent meningococcal conjugate vaccine in adults in India: an observer-blind, randomised, active-controlled, phase 2/3 study.

Background: Meningococcal disease remains an important public health problem globally. We assessed the non-inferiority and the lot-to-lot consistency of a pentavalent meningococcal ACYWX conjugate vaccine (NmCV-5; Serum Institute of India, Pune, India) versus a quadrivalent meningococcal ACWY conjugate vaccine (MenACWY-D) in healthy adults.

Methods: In this observer-blind, randomised, active-controlled, phase 2/3 study, healthy adults aged 18-85 years were recruited from nine hospitals across seven cities in India.

Consensus recommendations for acute trauma care & outcomes in LMICs from the transdisciplinary research, advocacy & implementation network for trauma in India.

Background & objectives Injuries profoundly impact global health, with substantial deaths and disabilities, especially in low- and middle-income countries (LMICs). This paper presents strategic consensus from the Transdisciplinary Research, Advocacy, and Implementation Network for Trauma in India (TRAIN Trauma India) symposium, advocating for enhanced, system-level trauma care to address this challenge. Methods Five working groups conducted separate literature reviews on pre-hospital trauma care, in-hospital trauma resuscitation and training, trauma systems, trauma registries, and India's Towards Improving Trauma Care Outcomes (TITCO) registry.

Effectiveness of "Healthy Living Training Program" on Obese Policemen.

Background: Considering the concerns of obesity problems, Mumbai Police authorities had launched full-day residential "Healthy Living Training Program" in February 2019 for obese policemen. We studied the effectiveness of the program by assessing health profile of the participants, and change in anthropometric measurements and blood pressure readings.

Methods And Materials: Permission from the concerned authorities and approval from the Institutional Ethics Committee (IEC) were taken.

Onsite serious adverse events reporting: Seven-year experience of the institutional ethics committee of a tertiary care hospital.

Background: Over the years, Indian regulations have undergone numerous amendments, including stringent reporting deadlines, relatedness requirements, and compensation obligations for serious adverse event (SAE). A historic change, new drugs and trial rules-2019, was proposed on March 19, 2019. The purpose of the study was to ascertain whether various stakeholders were reporting in accordance with the evolving SAE criteria.

Dermoscopy of Amyloidosis Cutis Dyschromica.

Amyloidosis cutis dyschromica is a very rare form of primary cutaneous amyloidosis characterized by prepubertal onset of hyper and hypopigmented spots and amyloid deposits in the papillary dermis. We report two cases of this condition highlighting its dermoscopic findings.

What matters in good health status of 1-year-old children? - A cross-sectional study of the perinatal factors.

Background: A healthy child can make way for a healthy adult. Some of the factors that can be used to determine the health of a young child are nutritional status of the child, the developmental milestones achieved, and frequency of illness.

Objectives: The health status of children and associated factors are determined.

Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.

Objective: To describe the genotype-phenotype characteristics of patients with 21-hydroxylase deficiency from western India and ascertain the prevalence of various phenotypes of 21-hydroxylase deficiency.

Methods: Patients with 21-hydroxylase deficiency, diagnosed clinically and biochemically, were prospectively enrolled and classified into salt wasting (SW), simple virilizing (SV), and non-classic (NC) phenotypes and were subjected to genetic testing of CYP21A2 by targeted sequencing and multiplex ligation-dependent probe amplification (MLPA).

Results: Eighty (64; 46, XX) probands with 21-hydroxylase deficiency were analyzed.

Efficacy and Safety of Topical Tofacitinib for the Treatment of Alopecia Areata.

Background: Alopecia areata (AA) is an autoimmune disease of the hair follicles. Although some cases resolve spontaneously, many patients require some form of treatment, including corticosteroids and vitamin D analogues, among others. Cytokine signaling in autoimmune disorders and their inhibition have been the prime objective in therapeutic research over the past few years.

Left Atrial Strain as a Predictor of Early Anthracycline-Induced Chemotherapy-Related Cardiac Dysfunction: A Pilot Systematic Review and Meta-Analysis.

: Chemotherapy-related cardiac dysfunction (CTRCD) significantly affects patients undergoing anthracycline (AC) therapy, with a prevalence ranging from 2% to 20%. Reduced left ventricular ejection fraction (LVEF) and left ventricular global longitudinal strain (LV GLS) are prognostic parameters for CTRCD detection. Our study aimed to investigate the role of emerging parameters such as left atrial strain (LAS).

Compliance and Experience of Quarantine during the 1st Wave of COVID-19 Pandemic in Mumbai.

Background: At the beginning of the pandemic, quarantine was thought to be the most effective way to contain the spread of the virus among international travelers and any potential carriers.

Objectives: This study assessed the type of quarantine, compliance to quarantine measures (QM), mood, and any social stigma faced during that period.

Materials And Methods: After approval from the institutional ethics committee, a telephonic interview survey was conducted.

IcoSema: unveiling the future of diabetes management from a clinical pharmacology perspective.

IcoSema, a groundbreaking approach to diabetes management, combines insulin icodec and semaglutide to offer a transformative treatment option. Insulin icodec delivers consistent glucose-lowering effects with once-weekly dosing, while semaglutide, a GLP-1 agonist, stimulates insulin secretion and aids in weight loss. This comprehensive article evaluates the potential of IcoSema from a clinical pharmacology perspective, examining the pharmacokinetics, efficacy, safety, compliance and cost-effectiveness of its individual components, as well as considering comparable combination therapies like iGlarLixi and IDegLira.

Spontaneous Adrenal Hemorrhage in a Pregnant Woman With Glucocorticoid Resistance Syndrome.

Glucocorticoid resistance syndrome is a rare disorder with no genetically proven cases reported from India; in addition, there are no descriptions available regarding its management during pregnancy. A 27-year-old woman, hypertensive since the age of 17 years, presented with hypokalemic paresis. She reported regular menses and acne.

Mature Cystic Oral Teratoma in a Neonate- A Case Report.

Background: Neonatal oral cavity masses present complex diagnostic and management challenges, often involving respiratory distress. We present a case of a 1-day-old male neonate with an oral cavity mass and respiratory distress, whose antenatal scan revealed polyhydramnios and a nasopalatine cyst.

Case Report: Clinical examination revealed a 5 * 5 cm cystic swelling arising from the right hard palate.

Role of Digital Subtraction Angiography in the Preoperative Assessment of a Patient with a Petrosquamous Sinus: a Case Report.

We report a case of a 15-year-old Indian girl who presented with tinnitus, pain and ear discharge for one month and was preliminarily diagnosed with Chronic Suppurative Otitis Media (CSOM) with mastoiditis. She underwent a routine presurgical CT scan which revealed an aberrant vein, making it essential to exercise caution during surgery for CSOM. The aberrant vessel was identified as a Petrosquamous Sinus.

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.

Objective: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. A systematic review of phenotype-genotype correlation and data on testicular histology in LCAH patients is unavailable. We aim to describe our experience and provide phenotype-genotype correlation.