Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.

Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles. Here we enumerate additional 248 Indians from 197 families with a skeletal dysplasia, following a similar study earlier.

Disparities in kidney care in vulnerable populations: A multinational study from the ISN-GKHA.

Vulnerable populations, such as the elderly, children, displaced people, and refugees, often encounter challenges in accessing healthcare. In this study, we used data from the third iteration of the International Society of Nephrology Global Kidney Health Atlas (ISN-GKHA) to describe kidney care access and delivery to vulnerable populations across countries and regions. Using data from an international survey of clinicians, policymakers, and patient advocates, we assessed the funding and coverage of vulnerable populations on all aspects of kidney replacement therapies (KRT).

PrP turnover in vivo and the time to effect of prion disease therapeutics.

PrP lowering is effective against prion disease in animal models and is being tested clinically. Therapies in the current pipeline lower PrP production, leaving pre-existing PrP to be cleared according to its own half-life. We hypothesized that PrP's half-life may be a rate-limiting factor for the time to effect of PrP-lowering drugs, and one reason why late treatment of prion-infected mice is not as effective as early treatment.

Tau load in select brainstem neurons predicts the severity and nature of balance deficits in the absence of cell death.

Patients with tauopathies present with profoundly different clinical symptoms , even within the same disorder . A central hypothesis in the field, well-supported by biomarker studies and post-mortem pathology , is that clinical heterogeneity reflects differential degeneration of vulnerable neuronal populations responsible for specific neurological functions. Recent work has revealed mechanisms underlying susceptibility of particular cell types , but relating tau load to disrupted behavior - es- pecially before cell death - requires a targeted circuit-level approach.

Structures, Organization, and Delivery of Kidney Care to Children Living in Low-Resource Settings.

Introduction: There is a disparity in the availability of health care for children in resource-constrained countries. The International Pediatric Nephrology Association (IPNA) commissioned an initiative exploring the challenges in the care of children with kidney disease in low- or middle-income countries (LMICs) with a focus on human, diagnostic, and therapeutic resources.

Methods: A survey was sent by e-mail to all members of IPNA and its affiliated regional or national societies residing in LMICs.

A study on awareness and perception about perinatal death auditing among health care workers in two districts of Karnataka State, India.

Background: To start perinatal death auditing, doctors should have good knowledge about it.

Objectives: To know the awareness and perceptions of doctors about different aspects of perinatal death auditing like 1) different types of contributors; 2) high-risk approach; 3) consequences; 4) documentary requirements; and 5) existing system of mortality meeting/child death reviews.

Methodology: The perinatal death auditing project was implemented in two districts of Karnataka state.

Structured training initiative (STI) for caregivers of children on peritoneal dialysis: a prospective study of the impact on the rate of peritonitis.

Background: Training caregivers performing PD is an important measure to prevent peritonitis. A low literacy rate hinders training in low-resource settings. We designed a structured training initiative (STI) and objective structured assessment (OSA) using visual and kinesthetic resources with minimal use of written resources.

Transient perivascular inflammation of the carotid artery (TIPIC) syndrome - a rare differential for anterior neck pain - Series of 3 cases and review of literature.

We report a series of 3 cases of transient perivascular inflammation of the carotid artery (TIPIC) syndrome in an otherwise healthy individual. We would also like to review this rare entity and compare it with other similar cases reported in the literature. Our first case was a young male with right-sided neck pain of 1-week duration with magnetic resonance imaging (MRI) showing right carotid perivascular inflammation which completely resolved after 2 weeks with anti-inflammatory drugs.

Comparative Pharmacokinetics and Safety Assessment of 1st- and 2nd-Generation Zinpentraxin Alfa Drug Products in Healthy Volunteers: A Randomized Crossover Study.

Zinpentraxin alfa is a recombinant form of the human pentraxin-2 that was studied in idiopathic pulmonary fibrosis (IPF). To improve the purity and yield of the drug material, a 2nd-generation drug product was developed. To characterize and compare the pharmacokinetic (PK) properties of the 1st- and 2nd-generation zinpentraxin alfa, PK studies were conducted in healthy volunteers (HVs).

Multiplex Functional Characterization of Protein Variant Libraries in Mammalian Cells with Single-Copy Genomic Integration and High-Throughput DNA Sequencing.

Sequencing-based, massively parallel genetic assays have enabled simultaneous characterization of the genotype-phenotype relationships for libraries encoding thousands of unique protein variants. Since plasmid transfection and lentiviral transduction have characteristics that limit multiplexing with pooled libraries, we developed a mammalian synthetic biology platform that harnesses the Bxb1 bacteriophage DNA recombinase to insert single promoterless plasmids encoding a transgene of interest into a pre-engineered "landing pad" site within the cell genome. The transgene is expressed behind a genomically integrated promoter, ensuring only one transgene is expressed per cell, preserving a strict genotype-phenotype link.

Perception and attitude towards online clinical modules: a cross-sectional study among medical students from two countries.

COVID-19 has deeply affected the world in various aspects including the education system worldwide. In this study, we intended to explore the merits and demerits of online clinical learning and its effect on medical education from a student's perspective. The study also assessed the perception and attitude of final-year medical students towards online clinical modules.

Zinpentraxin Alfa for Idiopathic Pulmonary Fibrosis: The Randomized Phase III STARSCAPE Trial.

A phase II trial reported clinical benefit over 28 weeks in patients with idiopathic pulmonary fibrosis (IPF) who received zinpentraxin alfa. To investigate the efficacy and safety of zinpentraxin alfa in patients with IPF in a phase III trial. This 52-week phase III, double-blind, placebo-controlled, pivotal trial was conducted at 275 sites in 29 countries.

Infection-Related Glomerulonephritis in Children and Adults.

Infection-related glomerulonephritis is an immunologically mediated glomerular injury after an infection. Glomerulonephritis may occur with the infection or after a variable latent period. Poststreptococcal glomerulonephritis (PSGN) is the prototype of infection-related glomerulonephritis.

Optimizing Nutrition in Neonates with Kidney Dysfunction.

The nutritional management of neonates with kidney disease is complex. There may be significant differences in nutritional needs based on the duration and cause of kidney dysfunction, including acute kidney injury (AKI) and chronic kidney disease (CKD). Furthermore, the treatment modality, including acute (continuous renal replacement therapy and peritoneal dialysis [PD]) and chronic (intermittent hemodialysis and PD) approaches may differentially affect nutritional losses and dietary needs.

Falls from Trees in Coastal Karnataka: A Neglected Cause of Polytrauma in Lower-Middle-Income Countries of Similar Agroforestry.

Introduction: Falls are the second most common cause of injury associated with mortality worldwide and an important type of blunt trauma, which forms a significant percentage of traumatic accidents and emergency department admissions. Falling from a tree is an important problem because of its effect on one's health owing to infirmity caused by injuries, most commonly spinal injuries, and the economic burden that accompanies it.

Methods: A retrospective chart analysis was performed including all the patients with falls from heights who presented to a tertiary care hospital in South India during the summer months of 2018, 2019, and 2020.

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants.

A comprehensive review of genomics, transcriptomics, proteomics, and metabolomic insights into the differentiation of Pseudomonas aeruginosa from the planktonic to biofilm state: A multi-omics approach.

Biofilm formation by Pseudomonas aeruginosa is primarily responsible for chronic wound and lung infections in humans. These infections are persistent owing to the biofilm's high tolerance to antimicrobials and constantly changing environmental factors. Understanding the mechanism governing biofilm formation can help to develop therapeutics explicitly directed against the molecular markers responsible for this process.

Cancer related fatigue measurement scales: A systematic review.

Cancer-related fatigue (CRF) is a common symptom experienced by all the cancer patients at all stages of the disease and in survivors. Fatigue from cancer is one of the understated, underestimated, and least managed. Several scales have been developed to measure CRF, but they vary in the quality of psychometric properties, ease of administration, and dimensions of CRF.

Mammalian Genomic Manipulation with Orthogonal Bxb1 DNA Recombinase Sites for the Functional Characterization of Protein Variants.

The Bxb1 bacteriophage serine DNA recombinase is an efficient tool for engineering recombinant DNA into the genomes of cultured cells. Generally, a single engineered "landing pad" site is introduced into the cell genome, permitting the integration of transgenic circuits or libraries of transgene variants. While sufficient for many studies, the extent of genetic manipulation possible with a single recombinase site is limiting and insufficient for more complex cell-based assays.

Integration of phenotypic, qPCR and genome sequencing methodologies for the detection of antimicrobial resistance and virulence in clinical isolates of a tertiary hospital, India.

The emergence of antimicrobial resistance (AMR) and virulence in clinical isolates is a significant public health concern. The rapid and accurate detection of these traits in clinical isolates is essential for effective infection control and treatment. We demonstrated the integration of multiple detection methodologies, including phenotypic testing, quantitative polymerase chain reaction (qPCR), and genome sequencing, to detect AMR and virulence in clinical isolates.