Abnormal cytoskeletal remodeling but normal neuronal excitability in a mouse model of the recurrent developmental and epileptic encephalopathy-susceptibility KCNB1-p.R312H variant.

Integrin_K Channel_Complexes (IKCs), are implicated in neurodevelopment and cause developmental and epileptic encephalopathy (DEE) through mechanisms that were poorly understood. Here, we investigate the function of neocortical IKCs formed by voltage-gated potassium (Kv) channels Kcnb1 and α5β5 integrin dimers in wild-type (WT) and homozygous knock-in (KI) Kcnb1 mouse model of DEE. Kcnb1 mice suffer from severe cognitive deficit and compulsive behavior.

Harnessing Raman spectroscopy and multimodal imaging of cartilage for osteoarthritis diagnosis.

Osteoarthritis (OA) is a complex disease of cartilage characterised by joint pain, functional limitation, and reduced quality of life with affected joint movement leading to pain and limited mobility. Current methods to diagnose OA are predominantly limited to X-ray, MRI and invasive joint fluid analysis, all of which lack chemical or molecular specificity and are limited to detection of the disease at later stages. A rapid minimally invasive and non-destructive approach to disease diagnosis is a critical unmet need.

Enhancing human activity recognition for the elderly and individuals with disabilities through optimized Internet-of-Things and artificial intelligence integration with advanced neural networks.

Elderly and individuals with disabilities can greatly benefit from human activity recognition (HAR) systems, which have recently advanced significantly due to the integration of the Internet of Things (IoT) and artificial intelligence (AI). The blending of IoT and AI methodologies into HAR systems has the potential to enable these populations to lead more autonomous and comfortable lives. HAR systems are equipped with various sensors, including motion capture sensors, microcontrollers, and transceivers, which supply data to assorted AI and machine learning (ML) algorithms for subsequent analyses.

Telemedicine in Pediatric Neurology: A Survey of Patient and Provider Experience.

Background: Over recent years there has been a shift in clinical practice to support care delivery via telemedicine. This study aims to highlight the patient and provider experience of telemedicine over 2.5 years within a Canadian Pediatric Neurology clinic.

Auriculotherapy for Labour Pain Management: a Systematic Review and Meta-Analysis.

Importance: Labor pain presents significant challenges during childbirth, necessitating effective pain management strategies. Auriculotherapy, a non-pharmacological intervention targeting specific ear points, has been explored as a potential solution for alleviating labor pain.

Objective: This systematic review and meta-analysis aimed to evaluate the efficacy of auriculotherapy in reducing labor pain intensity and improving maternal satisfaction.

KCNB1-Leptin receptor complexes couple electric and endocrine function in the melanocortin neurons of the hypothalamus.

The neurons of the melanocortin system regulate feeding and energy homeostasis through a combination of electrical and endocrine mechanisms. However, the molecular basis for this functional heterogeneity is poorly understood. Here, a voltage-gated potassium (Kv) channel named KCNB1 (alias Kv2.

Head circumference values among Inuit children in Nunavut, Canada: a retrospective cohort study.

Background: Inuit children from Nunavut have been observed to have high rates of macrocephaly, which sometimes leads to burdensome travel for medical evaluation, often with no pathology identified upon assessment. Given reports that World Health Organization (WHO) growth charts may not reflect all populations, we sought to compare head circumference measurements in a cohort of Inuit children with the WHO charts.

Methods: We extracted head circumference data from a previous retrospective cohort study where, with Inuit partnership, we reviewed medical records of Inuit children (from birth to age 5 yr) born between Jan.

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

RNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents' disease burden. We sought to investigate quality of life and stress levels amongst parents of children with POLR3-related leukodystrophy.

IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.

Background: Childhood neurodegenerative diseases often pose a challenge to clinicians to diagnose because of the degree of genetic heterogeneity and variable presentations. Here, we present a child with progressive neurodegeneration consisting of spasticity, dystonia, and ataxia in which postmortem pathological analysis led to the diagnosis of interferon regulatory factor 2 binding protein like (IRF2BPL)-related disorder.

Methods: Detailed postmortem gross and histological examination was conducted, and findings consistent with dentatorubral-pallidoluysian atrophy (DRPLA) and included polyglutamine (polyQ) inclusions.

A systematic review and meta-analysis of the clinical benefits and adverse reactions of anti-fibrotics in non-IPF progressive fibrosing ILD.

Background: Anti-fibrotics can reduce restrictive impairment in idiopathic pulmonary fibrosis (IPF). However, its effectiveness in non-IPF progressive fibrosing interstitial lung disease (non-IPF PF-ILD) remains uncertain.

Objective: We assess the efficacy and safety of anti-fibrotics pirfenidone and nintedanib versus placebo among non-IPF PF-ILD adult patients.

Classification of osteoarthritic and healthy cartilage using deep learning with Raman spectra.

Raman spectroscopy is a rapid method for analysing the molecular composition of biological material. However, noise contamination in the spectral data necessitates careful pre-processing prior to analysis. Here we propose an end-to-end Convolutional Neural Network to automatically learn an optimal combination of pre-processing strategies, for the classification of Raman spectra of superficial and deep layers of cartilage harvested from 45 Osteoarthritis and 19 Osteoporosis (Healthy controls) patients.

Safety and Optimizing Ergonomics for Cardiothoracic Surgeons.

Cardiothoracic surgery, demanding in nature, often results in surgeons suffering from musculoskeletal injuries, causing chronic pain and leading to premature retirement. A significant majority report experiencing pain, exacerbated by minimally invasive techniques such as video-assisted thoracoscopic surgery. Despite this, many surgeons delay seeking medical assistance.

Patient-derived organoid biobank identifies epigenetic dysregulation of intestinal epithelial MHC-I as a novel mechanism in severe Crohn's Disease.

Objective: Epigenetic mechanisms, including DNA methylation (DNAm), have been proposed to play a key role in Crohn's disease (CD) pathogenesis. However, the specific cell types and pathways affected as well as their potential impact on disease phenotype and outcome remain unknown. We set out to investigate the role of intestinal epithelial DNAm in CD pathogenesis.

An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn's disease with defective antimicrobial activity.

Despite major advances in linking single genetic variants to single causal genes, the significance of genetic variation on transcript-level regulation of expression, transcript-specific functions, and relevance to human disease has been poorly investigated. Strawberry notch homolog 2 (SBNO2) is a candidate gene in a susceptibility locus with different variants associated with Crohn's disease and bone mineral density. The SBNO2 locus is also differentially methylated in Crohn's disease but the functional mechanisms are unknown.

Increased IgD and CD27 Double Negative (DN) B cell population in pediatric onset autoimmune hepatitis.

Autoimmune hepatitis (AIH) is a chronic, inflammatory liver disease of unknown aetiology which requires lifelong immunosuppression. Most therapeutic and outcome studies of AIH have been conducted predominantly in Caucasian (European Ancestry, EA) cohorts, with the exclusion of African American (AA) patients due to inadequate sample size. It is known that AA patients have a severe phenotype of autoimmune diseases and demonstrate a poor response to conventional medical therapy.

Poly(methylmethacrylate-co-dimethyl acrylamide)-silver nanocomposite prevents biofilm formation in medical devices.

To investigate whether medical devices coated with a synthesized nanocomposite of poly(methylmethacrylate-co-dimethyl acrylamide) (PMMDMA) and silver nanoparticles (AgNPs) could improve their antibiofilm and antimicrobial activities. We also investigated the nanocomposite's safety. The nanocomposite was synthesized and characterized using analytical techniques.

Effects of (yogic colon cleansing) on anthropometric measurements in obese individuals.

Objectives: Obesity is considered as one of the major public health burden and it is predictor of cardiovascular risk factor. Yoga is a mind-body medicine helps to promote health. This study was aimed to explore whether (LS) reduce the body weight in obese individuals.

A Follow-up Study on Coping Strategies and its Association with Relapse Among Alcohol-dependent Patients.

Background: Alcohol Dependence Syndrome is a chronic illness that is relapsing in nature. Past research has shown that coping strategies that are specific to alcohol dependence are useful in preventing long-term relapse. This follow-up study is, therefore, an attempt to understand the coping styles and strategies that are associated with relapse among individuals dependent on alcohol.

B-cell lymphoma research in Malaysia - A narrative review.

Lymphomas are a diverse group of malignant proliferations that arise as discrete tissue masses. The most widely accepted taxonomy for lymphoma is the World Health Organization classification of tumours of haematopoietic and lymphoid tissues, the 5th edition of which was released in June 2022. Most (85% to 90%) lymphoid neoplasms are of B cell origin.

Functionalization of cellulose acetate nanofibrous membranes for removal of particulate matters and dyes.

Particulates and organic toxins, such as microplastics and dye molecules, are contaminants in industrial wastewater that must be purified due to environmental and sustainability concerns. Carboxylated cellulose acetate (CTA-COOH) nanofibrous membranes were fabricated using electrospinning followed by an innovative one-step surface hydrolysis/oxidation replacing the conventional two-step reactions. This approach offers a new pathway for the modification strategy of cellulose-based membranes.

The diagnostic workup of children with the radiologically isolated syndrome differs by age and by sex.

Background: Cerebrospinal fluid (CSF) and spinal MRIs are often obtained in children with the radiologically isolated syndrome (RIS) for diagnosis and prognosis. Factors affecting the frequency and timing of these tests are unknown.

Objective: To determine whether age or sex were associated with (1) having CSF or spinal MRI obtained or (2) the timing of these tests.

Model-Based Fault Diagnosis and Fault Tolerant Control for Safety-Critical Chemical Reactors: A Case Study of an Exothermic Continuous Stirred-Tank Reactor.

In safety-critical chemical reactors with potential hazards, reaction kinetics and heat transfer parameters are usually known, and a mathematical model is available. It is then meaningful to base fault detection and isolation algorithms on the first-principles model as opposed to statistics, so that physically meaningful residual signals are generated from material and/or energy balances not closing, leading to reliable fault diagnosis. Additionally, to maintain the safety of the entire system, it is necessary to take appropriate control action based on the mathematical model and the identified faults, to minimize their impact and thus ensure safe operation.