46,XX disorder of sex development associated with skin abnormalities due to homozygous R-Spondin 1 loss of function mutation.

A child, who was reared as male, presented in his early childhood to the endocrine clinic with penoscrotal hypospadias which was noticed at birth. On examination, he had both gonads in the scrotal sacs with complete scrotal fusion, rugosities and chordee with a single opening. He had increased palmoplantar skin desquamation.

Mitochondrial-targeted curcumin inhibits T-cell activation via Nrf2 and inhibits graft-versus-host-disease in a mouse model.

Anti-inflammatory and immune suppressive agents are required to moderate hyper-activation of lymphocytes under disease conditions or organ transplantation. However, selective disruption of mitochondrial redox has not been evaluated as a therapeutic strategy for suppression of T-cell-mediated pathologies. Using mitochondrial targeted curcumin (MitoC), we studied the effect of mitochondrial redox modulation on T-cell responses by flow cytometry, transmission electron microscopy, transcriptomics, and proteomics, and the role of Nrf2 was studied using Nrf2 / mice.

Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.

Background: White matter (WM) disorders with a genetic etiology are classified as leukodystrophies (LDs) and genetic leukoencephalopathies (GLEs). There are very few studies pertaining to the etiologic spectrum of these disorders in the Asian Indian population.

Methods: This study was conducted over a period of five years from January 2016 to December 2020, in the medical genetics department of a tertiary care hospital in southern India.

Illiterate Addenbrooke's Cognitive Examination-III in Three Indian Languages: An Adaptation and Validation Study.

Background: Literacy is an important factor that predicts cognitive performance. Existing cognitive screening tools are validated only in educated populations and are not appropriate for older adults with little or no education leading to poor performance on these tests and eventually leading to misdiagnosis. This challenge for clinicians necessitates a screening tool suitable for illiterate or low-literate older individuals.

Effect of stress on contextual pain sensitivity in the preoperative period- A proof of concept study.

Background And Aims: The importance of non-noxious contextual inputs in the interplay of pain with neurophysiologic and behavioral factors is gaining recognition. Stress of impending surgery can act as a negative context, leading to a decrease in pain threshold in patients. This study was conducted to assess the influence of stress conferred by the imminent and other contextual inputs such as anxiety, socioeconomic status, prior painful experience, and the effect of gender on modulation of pain perception in patients undergoing elective surgery.

Role of magnetic resonance imaging and 18-fluorodeoxyglucose positron emission tomography-computed tomography in identifying pain generators in patients with chronic low back pain.

Objective: Low back pain (LBP) is a major cause of pain and disability. Identification of the pathology accurately or the pain generators is sometimes difficult with the conventional modalities such as magnetic resonance imaging (MRI), computed tomography (CT), or X-ray. Nuclear medicine investigations such as single-photon emission CT (SPECT/CT) or 18-fluorodeoxyglucose positron emission tomography-CT (18-FDG PET-CT) have emerged as an adjuvant tool in these cases.

Utility of bone marrow examination (BME) in the diagnosis of pyrexia of unknown origin (PUO).

Introduction: Bone marrow examination (BME) is a useful tool in the diagnosis of haematological and non-haematological diseases. It plays an important role in early diagnosis of the underlying cause of pyrexia of unknown origin (PUO) and can influence the management of patients. Bone marrow aspiration (BMA) plays a very important role in establishing a definitive diagnosis in cases of PUO.

The Development of a Clinical Registry Digital Database on Invasive Fungal Infections in India: Advancing Epidemiological Understanding and Patient Care.

A well-structured digital database is essential for any national priority project as it can provide real-time data analysis and facilitate quick decision making. In recent times, particularly after the COVID-19 pandemic, invasive fungal infections (IFIs) have emerged as a significant public health challenge in India, affecting vulnerable population, including immunocompromised individuals. The lack of comprehensive and well-structured data on IFIs has hindered efforts to understand their true burden and optimize patient care.

Clinical Utility of Soluble Lectin Type Oxidized Low-Density Lipoprotein Receptor as a Biomarker for Myocardial Infarction and Stable Angina.

Background and objectives Endothelial soluble lectin-type oxidized low-density lipoprotein receptor 1 (sLOX-1) recognizes oxidized low-density lipoprotein (LDL) and triggers downstream signaling leading to atherosclerosis. The objective of this study was to demonstrate the utility of sLOX-1 as a biomarker for detecting acute myocardial infarction (MI) and stable angina (SA) and to develop a diagnostic algorithm for distinguishing coronary vasospasm from coronary plaque rupture. Methods We enrolled 62 patients who underwent diagnostic coronary angiography (CAG) and 30 healthy controls (21 men and nine women) and measured sLOX-1, troponin I, and cardiac myosin-binding protein C (c-MyBPC) using commercial kits.

Profile of Childhood Cancers From Hospital-Based Cancer Registries in India, 2012-19.

Objective: To describe the clinical pattern of childhood and adolescent cancers across India using hospital-based data in the National Cancer Registry Program.

Methods: Records of 60720 cancer cases in the 0-19 year age group for the period 2012-2019 from 96 hospital-based cancer registries were reviewed. Childhood cancers were classified based on the International Classification of Childhood Cancer (ICCC).

Defining anthropometric thresholds (mid-arm circumference and calf circumference) in older adults residing in the community: a cross-sectional analysis using data from the population representative Longitudinal Aging Study in India (LASI DAD).

Objectives: To identify factors associated with malnutrition (undernutrition and overnutrition) and determine appropriate cut-off values for mid-arm circumference (MAC) and calf circumference (CC) among community-dwelling Indian older adults.

Design: Data from the first wave of harmonised diagnostic assessment of dementia for Longitudinal Ageing Study in India (LASI-DAD) were used. Various sociodemographic factors, comorbidities, geriatric syndromes, childhood financial and health status were included.

Prophylactic Lactulose Therapy in Patients with Cirrhosis and Upper Gastrointestinal Bleeding: A Meta-analysis of Randomized Trials.

Background And Aims: Lactulose is the first-line drug for both treatment and secondary prophylaxis for overt hepatic encephalopathy (HE). The use of lactulose for the primary prophylaxis of HE in patients with cirrhosis and acute upper gastrointestinal bleeding (AUGIB) has been debated. Hence, we conducted this meta-analysis to assess the role of lactulose in HE prophylaxis in patients with cirrhosis and AUGIB.

A young boy with diabetic ketoacidosis and non-resolving pneumonia.

https://bit.ly/40gt4Hm.

Efficacy and Safety of adjunctive Perampanel in a prospective, real-world, Phase IV study in Indian patients aged ≥12 years for Treatment of focal-onset Epilepsy: Study 508.

Objective: ESPRITE (Study 508; NCT03836924) evaluated the real-world safety, tolerability, and efficacy of adjunctive perampanel in patients aged ≥12 years with focal-onset seizures (FOS), with or without focal to bilateral tonic-clonic seizures (FBTCS), in India.

Methods: ESPRITE was a prospective, multicenter, single-arm, observational, Phase IV study with a 6-month Treatment Period. Patients were aged ≥12 years and had been prescribed perampanel for adjunctive treatment of FOS, with or without FBTCS.

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Objectives: Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities.

Methods: Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included.

Trastuzumab-Related Cardiotoxicity in Adjuvant Setting: A Real-World Scenario.

Rachana Chennamaneni Trastuzumab, a humanized monoclonal antibody, significantly improves outcomes in 2-neu positive breast cancer. The incidence of cardiotoxicity with trastuzumab is approximately 8 to 10%. This study was designed to analyze the incidence and risk factors associated with trastuzumab-related cardiotoxicity in real-world settings.

Effect of etomidate and propofol on airway mechanics during induction - A prospective randomized trial.

Background And Aims: Intravenous induction agents like propofol and etomidate change the airway mechanics and thus influence mask ventilation. These changes have an impact on the administration of muscle relaxant in a difficult mask ventilation scenario. The difference in dynamics of airway after administration of two different intravenous agents has been assessed in this study.

Role of endoscopic ultrasound-guided tissue acquisition for the diagnosis of gastric wall thickening: a retrospective study with meta-analysis.

Background: Tissue acquisition from a thickened gastric wall using biopsy forceps may not always lead to diagnosis, given the submucosal location of the pathology. Endoscopic ultrasound (EUS)-guided tissue acquisition (TA) may serve as a minimally invasive diagnostic tool in such cases. Hence, we aimed to assess the diagnostic outcome and safety of EUS-TA from thickened gastric walls.

Changes in Optimal Stimulation Frequency with Time for Gait Disturbances in Patients with PD after STN-DBS-A Longitudinal Study.

Aim: To assess the changes in frequency parameters of STN-DBS stimulation over 6 months required to optimize gait in PD patients.

Methods: It's a single center, open label longitudinal study of PD patients after STN-DBS with gait disorders. Gait assessment using stand-walk-sit (SWS) test and freezing of gait (FOG) scores were done at baseline and after 6 months.

Comparison of Muscle Biopsy Features with Myositis Autoantibodies in Inflammatory Myopathies: A Pilot Experience.

Background: Idiopathic inflammatory myopathies (IIM), also called autoimmune myositis, are heterogeneous. These include dermatomyositis (DM), inclusion body myositis, immune mediated necrotizing myopathy (IMNM), anti-synthetase syndrome (ASS), and overlap polymyositis. Classification of IIM has evolved from clinical to clinico-pathologic to the recent clinico-sero-pathologic with the discovery of myositis-specific antibodies (MSA) and myositis-associated antibodies.

Correlation of Prepontine Cisternal Space Thickness with the Severity of Neurovascular Conflict and its Role in Predicting Outcome of Medical Management in Cases of Trigeminal Neuralgia.

Background: Trigeminal neuralgia (TN) is a debilitating disorder that presents with sudden onset of severe, unilateral, paroxysmal, and lancinating pain usually lasting for few seconds to few minutes.

Aims And Objectives: The main aim of our study was to correlate the prepontine cisternal space thickness, with a severity of neurovascular compression (NVC) and percentage reduction of pain (patient outcome).

Materials And Methods: Ours is an observational prospective study of 40 patients presenting with TN for magnetic resonance imaging in our department.