A study of N-acetyltransferase 2 gene polymorphisms in the Indian population and its relationship with serum isoniazid concentrations in a cohort of tuberculosis patients.

The N-acetyltransferase 2 (NAT2) gene exhibits substantial genetic diversity, leading to distinct acetylator phenotypes among individuals. In this study, we determine NAT2 gene polymorphisms in tuberculosis (TB) patients and analyze serum isoniazid (INH) concentrations across the various genotypes. An observational prospective cohort study involving 217 patients with pulmonary or extrapulmonary TB was carried out.

A Novel Compound Heterozygous Mutation in Progressive Familial Intrahepatic Cholestasis (PFIC) 4: A Rare Case Report With Literature Review.

A 12-year-old female, resident of western India, presented with a history of pruritus associated with jaundice for two months. On presentation, she had icterus with mild palpable hepatomegaly. Investigations revealed direct hyperbilirubinemia and elevated transaminases, while gamma-glutamyl transferase levels were normal.

Identification of a novel MAG gene mutation with 22q11.21 microduplication linked to hereditary spastic paraplegia.

Diagnosing hereditary spastic paraplegia (HSP) in paediatric patients can be challenging, especially when there is no positive family history. Children are often initially misdiagnosed with cerebral palsy due to the gradual progression of the disease and non-specific neuroimaging findings, despite the absence of perinatal insult. This misdiagnosis can prevent timely prenatal diagnosis, limiting the ability to make informed decisions about the pregnancy and to plan early interventions.

Efficacy and Safety of a Fixed-Dose Combination of Brinzolamide 1%/Timolol 0.5% vs. Dorzolamide 2%/Timolol 0.5% in Indian Patients With Primary Open-Angle Glaucoma or Ocular Hypertension: A Randomized Phase 3 Study.

Introduction Fixed-dose combinations (FDCs) have the potential in glaucoma management to improve efficacy due to the complementary mechanism of action of the drugs as well as compliance while reducing adverse effects by minimizing exposure to preservatives and the financial burden on the patients. FDC of brinzolamide/timolol has demonstrated efficacy and safety in multinational phase 3 studies in primary open-angle glaucoma (POAG) and ocular hypertension. However, efficacy and safety in the Indian population are not known.

Sir Macfarlane Burnet-Immunologist.

Frank Macfarlane Burnet (1899-1985) was born in Victoria, Australia, and obtained his MD in 1924 from the University of Melbourne. Burnet spent 2 years in England at the Lister Institute, where he studied bacteriophages and earned a PhD in 1928. Returning to Australia, he worked at the Walter and Eliza Hall Institute; as a bacteriologist, he continued his research on phages.

Corneille Heymans and Carotid Body.

Corneille Heymans (1892-1968) was born in 1892 in Ghent, Belgium. Heymans received his doctor's degree in 1920 from the University of Ghent. He studied physiology in Paris, Lausanne, Vienna, and London under EH Starling and in the United States after graduation.

Fetus in Fetu: A Rare Cause of an Abdominal Lump.

Fetus in fetu (FIF) is a rare anomaly characterized by the presence of a monozygotic twin that becomes incorporated into the abdomen of its sibling during fetal development. FIF is a rare congenital condition typically identified in infancy. We present a case of FIF in a 16-year-old male, which is an extremely rare presentation during adolescence.

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.

Malignant Gastrointestinal Neuroectodermal Tumor, a Rare Neoplasm, Presenting With Hemoperitoneum and Malena: A Case Report.

Malignant gastrointestinal neuroectodermal tumor (GNET) are rare malignant mesenchymal tumors. The tumor can present with various symptoms like abdominal pain, anorexia, or small bowel obstruction. Here, we present a case of small intestinal GNET who presented with gastrointestinal bleed and hemoperitoneum, a rare presentation of this disease.

Status of sperm mitochondrial functions and DNA methylation in infertile men with clinical varicocele before and after treatment.

Varicocele has been associated with reduced male fertility potential. Treatment modalities for varicocele improve semen parameters, yet more than 50% of cases remain infertile. Varicocele-induced heat and hypoxia stress may affect sperm mitochondrial functions, possibly leading to aberrant epigenetic modifications.

Factors associated with seasonal affective disorder: Findings from the bipolar disorder course and outcome study from India (BiD-CoIN study).

Background: There is a lack of information on the long-term course and outcomes of bipolar disorder (BD) patients with seasonal affective disorder (SAD).

Aim: To compare the demographic and clinical profile of BD patients with and without SAD.

Methodology: Data from 773 BD patients with an illness duration of at least 10 years were collected from 14 tertiary care centers.

Obstructed Right Paraduodenal Hernia: An Unusual Cause of Small Bowel Gangrene.

Paraduodenal hernias, especially right sided, are extremely rare entities that are difficult to diagnose due to their uncommon presentation. Some may experience small bowel obstruction. Such patients will have a guarded prognosis if complicated by sepsis due to strangulation or perforation.

A case series of emphysematous pyelonephritis in COVID-positive patients.

Emphysematous pyelonephritis (EPN) is a rare infectious disease affecting the renal and perirenal tissues, wherein gas formation occurs in the renal parenchyma, perinephric tissues, or collecting systems. It can be life threatening with mortality rates upto 60%. Here, we report a case series of EPN during the COVID pandemic with COVID test-positive patients who were diagnosed based on clinical signs, symptoms, and CT scans.

Nikola Tesla-Father of Our Energy Systems.

Nikola Tesla (1856-1943) was an American-Croatian electrical engineer who studied at Graz and Prague. He emigrated to the USA in 1884, where he worked for Thomas Edison. After a period of time, apart from having differences of opinion, Edison did not pay him the promised remuneration, so he left the job and set up on his own.

Acute Liver Failure as an Index Presentation of Hematolymphoid Malignancy: A Rare Case Report.

Acute liver failure (ALF) is usually due to viral hepatitis and toxins. We have recently seen a patient with diffuse large B-cell lymphoma (DLBCL) presenting with ALF. High clinical suspicion is necessary for making a diagnosis of this rare etiology presenting as ALF.

TB prevention and immunization in pediatrics.

Tuberculosis (TB) is one of the main contributors to global mortality and morbidity. Prevalence of TB is more in developing countries. It is one of the airborne diseases that has always been a major health problem.

Clinical and socio-demographic profile of children receiving pediatric palliative care in a tertiary hospital of a metropolitan city in India.

Pediatric palliative care is a holistic care of children suffering from life-threatening or life-limiting illnesses and encompasses care of a child's body, mind, and spirit and involves giving support to the family. According to the Global Atlas of Palliative Care, 6% of the global need for palliative care is in children. In order to provide palliative care, one needs to identify and diagnose the conditions requiring palliative care.