Novel 327bp Alu element insertion in LDLR exon 17 causes alternative splicing and familial hypercholesterolemia.

Background: Homozygous familial hypercholesterolemia (HoFH) is a severe form of familial hypercholesterolemia (FH), characterized by high low-density lipoprotein cholesterol (LDL-C) levels and increased coronary artery disease risk. This study reports a novel Alu insertion in the LDLR gene in a consanguineous Indian family, causing FH.

Objective: To identify and characterize the mutation causing HoFH in a proband and their family members.

Should We Be Treating Affective Symptoms, Like Anxiety and Depression Which May Be Related to LUTD in Patients With OAB? ICI-RS 2024.

Aims: To discuss the role of screening and treatment of affective symptoms, like anxiety and depression in patients with LUTD. A review of the literature regarding the bidirectional association and multidisciplinary approaches integrating psychometric assessments with personalized treatment plans to improve diagnostic accuracy and therapeutic outcomes of LUTD.

Methods: This review summarizes discussions and a narrative review of (recent) literature during an International Consultation on Incontinence-Research Society 2024 research proposal with respect to the role of screening for anxiety and depression, effect of mental health symptoms on treatment outcomes and future implications.

Incremental cost of treating antimicrobial-resistant infections among hospitalised patients in India: a cohort study.

Background: Accurate estimates of incremental cost (IC) attributable to antimicrobial resistance (AMR) provide information of immense public health importance to the policy makers. Here, we present the IC from patient perspective for treating antimicrobial-resistant pathogens in India.

Methods: This cohort study was conducted in eight hospitals including government (GH), private (PH) and trust hospitals (TH), considering their ownership, geographical location and categories of cities.

1-Year Follow-Up Result of Early Definitive Management of the Trauma Patient in a Tertiary Health Care Centre.

Introduction: Road traffic accidents (RTA) account for a sizable portion of morbidity and mortality globally, with a particularly high incidence among young and active individuals. Patients presenting with polytrauma require a multidisciplinary approach guided by protocols for advanced trauma life support.

Case Report: We report the case of a 31-year-old female, transferred-in to our center following primary care after an RTA on June 17th, 2023.

Effectiveness of a Neurocritical Care Course with Problem-Based Learning and Discussion Format in Asia.

Numerous barriers hinder the effective delivery of neurologic care as well as the education of health care professionals in the low-income and middle-income countries (LMICs). This study assessed the knowledge of the participants after Comprehensive Neurocritical Care Course (CN3C) in the LMICs. Data from 177 participants were collected and analyzed.

Global, regional, and national burden of primary liver cancer attributable to metabolic risks: an analysis of the Global Burden of Disease Study 1990-2021.

Background: The global burden of metabolic diseases is increasing, but estimates of their impact on primary liver cancer are uncertain. We aimed to assess the global burden of primary liver cancer attributable to metabolic risk factors, including high body mass index (BMI) and high fasting plasma glucose (FPG) levels, between 1990 and 2021.

Methods: The total number and age-standardized rates of deaths and disability-adjusted life years (DALYs) from primary liver cancer attributable to each metabolic risk factor were extracted from the Global Burden of Disease Study 1990-2021.

Molecular Mimicry Between Gut Microbiome and Rheumatoid Arthritis: Current Concepts.

Rheumatoid arthritis (RA) represents an autoimmune condition impacted by a combination of genetic and environmental factors, with the gut microbiome (GMB) being one of the influential environmental factors. Patients with RA display notable modifications in the composition of their GMB, characterised by decreased diversity and distinct bacterial alterations. The GMB, comprising an extensive array of approximately 35,000 bacterial species residing within the gastrointestinal tract, has garnered considerable attention as a pivotal contributor to both human health and the pathogenesis of diseases.

I-JAMM (II)-Therapeutic Apheresis Practices in Preconditioning of ABO-Incompatible Kidney and Liver Transplants in India.

ABO-incompatible transplantations are increasingly gaining relevance with advancements in therapeutic modalities, thus allowing patients to receive timely solid organ transplants. Therapeutic apheresis (TA) procedures remain instrumental as a preconditioning measure to enable such transplants. This survey was undertaken to find out current trends and practices of TA across major transplant centers in India.

Delphi-Based Global Consensus on Adopting Endothelial Keratoplasty: An Endothelial Keratoplasty Learners Group Initiative.

Purpose: To identify areas of consensus among experts on the performance of endothelial keratoplasty by using a modified Delphi approach, to help create a framework for novice surgeons to adopt these procedures.

Methods: Thirty-one international experts in endothelial keratoplasty participated. Two rounds of electronic survey were followed by a hybrid, virtual meeting.

Isolated Osseous Rosai Dorfman Disease of Foot Bones. Report of a Patient Misdiagnosed and Treated as Chronic Osteomyelitis.

Isolated osseous involvement without lymphadenopathy is a rare manifestation of Rosai-Dorfman disease. It clinically and radiologically mimics infections and primary bone tumors. The present report describes a 9-year-old girl with multifocal monomelic osseous involvement as an isolated manifestation.

A Study on Outcome of Conservative Management of Shaft Humerus Fracture: A Case Report.

Introduction: Conservative or surgical treatment options are available for humeral shaft fractures. To pinpoint individuals who would benefit from early surgical fixation, fracture characteristics were examined. In conservative treatment, the "U" slab prevents displacement, and overriding is corrected by gravity while the patient continues to move about.

Management of Distal Femoral Non-union: A Systematic Review.

Introduction: Managing distal femur fracture nonunion is complex, with unpredictable results. The present investigation systematically updates current evidence, reviews existing modalities, innovations and related outcomes, and discusses future perspectives on the management of nonunion of the distal femur.

Methods: This study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses: the 2020 PRISMA statement.

Evaluation of efficacy of two bag-mask ventilation techniques by novice airway providers: Two-handed CE versus dominant-hand CE-non-dominant-hand thenar eminence techniques - A randomised controlled trial.

Background And Aims: The conventional CE clamp technique may not effectively provide bag-mask ventilation (BMV) in the hands of inexperienced providers. Hence, we compared the efficacy of two-handed CE versus a hybrid technique.

Methods: One hundred thirty-two American Society of Anesthesiologists (ASA) I-II adult patients were randomised into groups A and B.

Erratum: Burden of disease attributable to high body mass index: an analysis of data from the Global Burden of Disease Study 2021.

[This corrects the article DOI: 10.1016/j.eclinm.

A comparison of TG-43 and TG-186 dose calculation algorithms for treatment planning of intra-cavitary brachytherapy using tandem and ovoid applicator.

Purpose: The present study evaluated the dosimetric impact and compared the dose variations between the advanced collapsed cone engine (Task Group 186) and Task Group 43 plans for cervical cancer using tandem and ovoid applicators.

Material And Methods: Thirty cervical cancer patients underwent iridium-192 (Ir) high-dose-rate (HDR) intra-cavitary brachytherapy using tandem and ovoid applicator. Original treatment plans for all patients were created using TG-43 dose calculation formalism.

Difference of Neck Shortening in Femoral Neck Fracture between Femoral Neck System and Multiple Cannulated Cancellous Screws: Single Center, Prospective Randomized Controlled Trial.

Purpose: Fracture union after osteosynthesis of a fracture neck femur (FNF) occurs by compression of the fracture ends and potential neck shortening. Selection of an implant for fixation of a femoral fracture of the neck can be challenging when making management decisions. Femoral neck shortening after internal fixation of FNFs using a femoral neck system (FNS) or multiple cannulated cancellous screws (MCS) was compared.

Comparison of modified tumescent and conventional laparoscopic transabdominal pre-peritoneal repair in the patients of inguinal hernia: A randomised control trial.

Introduction: Inguinal hernia surgery, a common procedure worldwide, continues to develop to achieve minimal access and tension-free repairs. However, a universally accepted technique has yet to be developed. Our study introduces a new approach, a modified tumescent transabdominal pre-peritoneal (TAPP), to a low-cost setting.

Global burden of disease attributable to metabolic risk factors in adolescents and young adults aged 15-39, 1990-2021.

Background: Metabolic risk factors are a significant cause of global burden among adolescents and young adults, but there is a lack of attention to the burden attributable to these metabolic risk factors globally.

Aims: This study aims to provide comprehensive estimates of five important metabolic risk factors and the attributable disease burden in people aged 15-39 years from 1990 to 2021, based on the Global Burden of Disease Study (GBD) database.

Methods: Global total deaths and disability-adjusted life years (DALYs) were used to describe the burden attributable to five common metabolic risk factors, including high fasting plasma glucose (FPG), high low-density lipoprotein cholesterol (LDL-C), high systolic blood pressure (SBP), high body mass index (BMI), and kidney dysfunction, in adolescents and young adults.

Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.

Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.

Morphological characterization of coronary plaques in young indian patients with acute coronary syndrome: A multicentric study.

Objectives: The prevalence of atherosclerosis and acute coronary syndrome (ACS) is increasing in young Indians (18-50 years of age). However, the characteristics of atherosclerotic plaques in such individuals are poorly understood, presenting distinct challenges for the management of ACS. This study aims to analyze plaque characteristics in young Indian patients with ACS who underwent percutaneous coronary intervention (PCI) using optical coherence tomography (OCT) imaging.