Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.

Background: Congenital myasthenic syndrome (CMS) is phenotypically and genetically different from myasthenia gravis. CMS can present in adolescents and can be treatable. Genetic testing is helpful in diagnosis, and guides therapy, alleviating the need of muscle biopsy.

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.

A Vocal Cord Polyp: An Atypical Case of Molluscum Contagiosum.

A 44-year-old patient presented with hoarseness of voice and a polypoidal lesion on the left vocal cord. Complete excision was done. To our knowledge, this is the second reported case of molluscum contagiosum of the vocal cords.

Endoscopic Double Flap Tympanoplasty.

Aim: This study is aimed to compare the outcomes of the two techniques (endoscopic single flap tympanoplasty- ESFT versus endoscopic double flap tympanoplasty - EDFT) of endoscopic tympanoplasty for repairing large tympanic membrane (TM)perforations with limited anterior remnant.

Methodology: In this randomised controlled trial, forty patients with large sized TM perforations were included and randomised in the ESFT and EDFT arms with twenty patients in each group. Both the groups underwent endoscopic tympanoplasty using temporalis fascia graft.

Efficacy and safety of self-expandable metallic stents for management of benign gastric outlet obstruction-A prospective study.

Introduction: We aimed at evaluating the safety and efficacy of self-expandable metallic stent (SEMS) insertion for managing patients with benign gastric outlet obstruction (GOO).

Methods: This prospective interventional study included 23 patients. All consecutive treatment-naïve symptomatic patients with benign GOO were recruited.

Multicenter, Open-Label, Prospective Study Shows Safety and Therapeutic Benefits of a Defined Ginkgo Biloba Extract for Adults with Major Neurocognitive Disorder.

Introduction: The safety and therapeutic effects of Gingko biloba extract EGb 761® to treat cognitive decline have been demonstrated in numerous clinical trials. However, trials in Indian populations have been lacking.

Methods: This open-label, multicenter, single-arm, phase IV trial enrolled 150 patients aged ≥50 years with major neurocognitive disorder due to Alzheimer's disease, major vascular neurocognitive disorder, or mixed forms of both according to the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) criteria and a Mini-Mental State Examination (MMSE) score of 12-24.

Infrared thermogram image guided discontinuous appearances of hyaluronic acid for classification of arthritic knee joints.

The liveliness of a human potentially depends on his/her smooth movability. To accomplish the work of daily life, the joints of the body need to be healthy. However, the occurrence of Rheumatoid arthritis and Osteoarthritis has a significant prevalence towards the immovability of humankind.

Prophylaxis of hepatic encephalopathy: current and future drug targets.

Hepatic encephalopathy is described by a broad spectrum of neurological and psychiatric aberrations resulting due to advanced liver dysfunction. It is a neurological disorder due to hepatic insufficiency and/or portosystemic shunts. Its clinical presentation includes neuropsychiatric dysfunction ranging from subclinical changes to comatose state.

A population based study on human papillomavirus infection and associated risk factors among women of the remote South Andaman Island, India.

Background: Human papillomavirus (HPV) is associated with cervical cancer and cervical dysplasia worldwide. Data on HPV prevalence in a region is important because it serves as a predictor of the likelihood of the population in that particular region acquiring cervical cancer. Moreover, with the availability of effective vaccines, the public health system must be aware of the preponderance of HPV to implement the vaccine.

Motorized Power Spiral Enteroscopy (MSE): Is Routine Bougienage of the Upper Esophageal Sphincter (UES) Necessary?

Introduction Wire-guided bougienage of the upper esophageal sphincter (UES) was performed routinely before per-oral motorized power spiral enteroscopy (MSE). In the present study, we aimed to answer the clinical question of whether routine bougienage of UES is required. Methods This was a retrospective study that included 20 patients who underwent antegrade spiral enteroscopy for various indications.

Study of biomarkers p53, Ki-67, Bcl-2, and VEGF in pterygium.

Purpose: To study the biomarkers present in primary pterygium samples of patients of Indian ethnicity and compare it with the samples obtained from the unaffected conjunctiva of the same eye.

Methods: A prospective case-control study of 17 eyes in patients above 10 years of age with primary pterygium who underwent pterygium excision using limbal conjunctival autograft technique. The pterygium samples (cases) and conjunctival samples (controls) were sent for immunohistochemical (IHC) staining for the following biomarkers: p53, Bcl-2, Ki-67, and vascular endothelial growth factor (VEGF).

Utility of VCS Parameters as a Cost-effective and Early Marker of Sepsis: A Hospital-based Study.

Introduction: Sepsis is a life-threatening condition. Nowadays, hospitals rely on laboratory parameters like CRP and procalcitonin to detect sepsis. There is a need to evaluate and validate more accurate and early predictors of sepsis in critically ill patients.

Thromboprophylaxis practices in neurocritical care-A cross-sectional survey among neurocritical care practitioners.

Background And Aims: Thromboprophylaxis practice patterns are quite diverse in neurocritical care patients. The risk of venous thromboembolism remains high in this group due to prolonged immobilised status, extended length of stay and multiple comorbidities. The aim was to comprehend the thromboprophylaxis practices among neurocritical care practitioners in India.

Distribution of Human Papillomavirus Genotypes among the Women of South Andaman Island, India.

Background: Human Papillomavirus (HPV) causes various types of cancer in both men and women. Woman with HPV infection has a risk of developing invasive cervical cancer. Globally, HPV 16 and 18 were predominant.

Blood Stream Infection Caused by Carbapenem-resistant Chryseobacterium indologenes Harboring blaNDM-1 Gene Isolated from a Tertiary Care Hospital in Tripura: An Emerging Threat.

Objectives: Chryseobacterium indologenes has recently been identified as an inherently drug-resistant organism, responsible for a wide spectrum of infections, mainly device-associated infections in hospital settings. The presence of carbapenem resistance due to blaNDM-1 metallo-β-lactamase (MBL) gene further complicates the matter, leading to widespread dissemination of carbapenem resistance. This study aims to find out the presence of blaNDM-1 gene among C.

Nutritional therapy for persistent cognitive impairment after resolution of overt hepatic encephalopathy in patients with cirrhosis: A double-blind randomized controlled trial.

Background And Aim: Minimal hepatic encephalopathy (MHE) reflects cognitive impairment in patients with liver cirrhosis and is associated with poor prognosis. We assessed the effects of nutritional therapy on cognitive functions, health-related quality of life (HRQOL), anthropometry, endotoxins, and inflammatory markers in cirrhotic patients with MHE.

Methods: In a double-blind randomized controlled trial, cirrhotic patients with MHE were randomized to nutritional therapy (group I: 30-35 kcal/kg/day and 1.

Vitmain B12 as Severity and Prognostic Marker in Chronic Liver Disease.

Introduction: Chronic liver disease is an immuno-compromised state is well known established fact but there are falsely elevated vitamin B12 levels in patients with chronic liver disease, which can be used as severity and prognostic marker. This study was designed to investigate the association between vitamin B12 levels and liver disease severity and long term prognosis in patients with chronic liver disease.

Materials: An observational longitudinal study was carried over a period of 6 months among indoor patients admitted in department of medicine of a tertiary care hospital in North-Eastern India.