Phenotype Spectrum of TRPM3-Associated Disorders.

Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.

Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).

International Consensus Guidance for the Management of Glucocorticoid Related Complications in Neuromuscular Disease.

Introduction/aims: Glucocorticoid (GC)-related adverse reactions and risks are commonly seen during the treatment of immune-mediated and inflammatory neuromuscular disorders. There is wide variation in the management of associated complications. The aim of this study is to develop international consensus guidance on the management of GC-related complications in neuromuscular disorders.

Effects of brexpiprazole on patient life engagement in schizophrenia: analysis of Positive and Negative Syndrome Scale data.

Objective: Patients with schizophrenia value improved life engagement, a term that describes positive health aspects across emotional, physical, social, and cognitive domains. This analysis of clinical trial data aimed to investigate the effect of brexpiprazole on patient life engagement in schizophrenia over the short and long term.

Methods: Data were pooled from three 6-week, randomized, double-blind, placebo-controlled clinical trials (ClinicalTrials.

Novel Orthosteric/Allosteric Ligands of Cannabinoid Receptors: An Unexpected Pharmacological Profile.

The design of dualsteric/bitopic receptor ligands as compounds capable of simultaneously interacting with both the orthosteric and an allosteric binding site has gained importance to achieve enhanced receptor specificity and minimize off-target effects. In this work, we reported the synthesis and biological evaluation of a new series of compounds, namely, the series, obtained by chemically combining the CB1R ago-positive allosteric modulators (PAM) with the cannabinoid receptors (CBRs) orthosteric agonist . Therefore, compounds were designed as dualsteric/bitopic ligands for CB1R with the aim of obtaining stronger CB1R agonists or ago-PAMs, with improved receptor subtype selectivity and reduction of central side effects.

Post-acute sequela of COVID-19 infection in individuals with multiple sclerosis.

Background: Many common symptoms in post-acute sequelae following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection (PASC) overlap with those of multiple sclerosis (MS). We examined symptoms and performance of the PASC score, developed in the general population, in MS based on infection history.

Methods: We surveyed North American Research Committee on Multiple Sclerosis (NARCOMS) registry participants regarding infections and categorized participants based on infection history.

Commentary: Review of Mandatory Maintenance of Certification in the USA.

The goal of maintenance of certification (MOC) activities is to ensure physicians are up to date on current practices and demonstrate the knowledge and skills required to provide patients with optimal care. The program's aim is to promote professional development, lifelong learning and quality assurance for the public and medical community. However, physicians are not happy with the current structure of the program, claiming it to be time-consuming, expensive and ineffective for their practice.

A monoamine oxidase B inhibitor altered gene expression of catalytically active dual-specificity phosphatases in human oral gingival keratinocytes.

Objective: Monoamine oxidase (MAO) inhibitors reduce inflammation in a number of in vitro and in vivo models. This finding led to the development of a novel MAO-B selective inhibitor (RG0216) designed to reduce blood-brain barrier penetration. To elucidate RG0216's regulatory role in inflammation-relevant signaling pathways, we employed a transcriptome analytic approach to identify genes that are differentially regulated by RG0216 and then globally identified which inflammation-relevant biological signaling pathways were altered by this drug.

(Epistemic) Injustice and Resistance in Canadian Research Ethics Governance.

This article brings a philosophical perspective to bear on issues of research ethics governance as it is practiced and organized in Canada. Insofar as the processes and procedures that constitute research oversight are meant to ensure the ethical conduct of research, they are based on ideas or beliefs about what ethical research entails and about which processes will ensure the ethical conduct of research. These ideas and beliefs make up an epistemic infrastructure underlying Canada's system of research ethics governance, but, we argue, extensive efforts by community members to fill gaps in that system suggest that these ideas may be deficient.

Exploring adolescents' experiences navigating the intersection of their gender, sport, and dietary identities: an interpretative phenomenological study.

Not all adolescents have positive sport experiences. Research has repeatedly identified ties between unfavorable eating patterns and food beliefs (i.e.

Stratifying vascular disease patients into homogeneous subgroups using machine learning and FLAIR MRI biomarkers.

This study proposes a framework to stratify vascular disease patients based on brain health and cerebrovascular disease (CVD) risk using regional FLAIR biomarkers. Intensity and texture biomarkers were extracted from FLAIR volumes of 379 atherosclerosis patients. K-Means clustering identified five homogeneous subgroups.

Examining the associations between mental health, life balance, work-method autonomy, and perceived boundary control among postdoctoral fellows.

High mental health risks and life imbalance among postdoctoral fellows (postdocs) are persistent concerns in academia. However, little is known about the relationship between these two subjects and whether autonomy at work is linked to life balance among postdocs. Online survey responses from 117 postdocs (59% women; 49% non-Hispanic white) were assessed using multiple linear regression analysis to examine whether the work-method autonomy and perceived boundary control of postdocs were linked to life balance.

Spanning three decades: global research wave and future prospects of broader autism phenotype-a visual researches by CiteSpace and VOS viewer.

Objectives: To conduct a comprehensive review of the literature pertaining to the broader autism phenotype, the paper endeavors to delineate the key research directions and topics, document the current research trends, and furnish insightful analyses and novel perspectives to foster future advancements in the field, with the aid of CiteSpace and VOS viewer.

Methods: CiteSpace and VOS viewer are two kinds of software for visualizing citations that is intended to examine academic literature and identify possible sources of knowledge. The Web of Science Core Collection database was used to retrieve articles from 1994 to 2024 that discussed the autism phenotype in general.

The relationship between life regrets and well-being: a systematic review.

Introduction: The aim of the current study is to examine the association between life regret and well-being, through a systematic review.

Methods: Four different databases (PsycINFO, Web of Science, ProQuest, Dissertations & Theses Global, and ERIC) were used to source 31 relevant articles, published between 1989 and 2018.

Results: We conclude that experiencing greater life regret is associated with negative effects on various aspects of well-being, such as life satisfaction and depressive symptoms.

Psychological well-being of rural left-behind women in Northwest China and its associated factors: a regional, population-based study.

Purpose: Growing awareness has highlighted the challenging living condition faced by rural left-behind women (RLW), yet their psychological well-being has not been fully investigated. This study aims to investigate the psychological well-being of RLW in Northwest China and exploring its associated factors.

Samples And Methods: A total of 697 RLW from five provincial regions were enrolled.

Access to Healthy Built and Natural Environments and Physical Activity and Screen Time in New Zealand Adolescents: A Geospatial Cross-Sectional Study.

The built and natural environment can facilitate (un)healthy behaviors in adolescence. However, most previous studies have focused on examining associations between singular aspects of the environment. This study examined the association between the mixture of health-promoting and health-constraining environmental features in a Healthy Location Index (HLI) and physical activity and screen time among adolescents.

Corrigendum: Inhibition of coronavirus HCoV-OC43 by targeting the eIF4F complex.

[This corrects the article DOI: 10.3389/fphar.2022.

The use of patient-generated health data in the management of low anterior resection syndrome: a qualitative study.

Background: The cornerstone of low anterior resection syndrome (LARS) treatment is self-management, which requires patient engagement. Colorectal surgeons and nurses may use patient-generated health data (PGHD) to help guide patients in their use of self-management strategies for LARS. However, the perspectives of LARS experts on the use of PGHD remain largely unexplored.

Precision Medicine for Pulmonary Vascular Disease: The Future Is Now (2023 Grover Conference Series).

Pulmonary vascular disease is not a single condition; rather it can accompany a variety of pathologies that impact the pulmonary vasculature. Applying precision medicine strategies to better phenotype, diagnose, monitor, and treat pulmonary vascular disease is increasingly possible with the growing accessibility of powerful clinical and research tools. Nevertheless, challenges exist in implementing these tools to optimal effect.

Emerging Therapeutic Modalities and Pharmacotherapies in Neuropathic Pain Management: A Systematic Review and Meta-Analysis of Parallel Randomized Controlled Trials.

Neuropathic pain (NP) is a chronic condition caused by abnormal neuronal excitability in the nervous system. Current treatments for NP are often ineffective or poorly tolerated. Hence, we reviewed the efficacy and safety of novel drugs or devices that target neuronal excitability in NP patients compared with placebo, sham, or usual care interventions.

Real-World Evidence on the Effectiveness of Pembrolizumab in Patients With Recurrent/Metastatic/Unresectable Head and Neck Squamous Cell Cancer: A Systematic Review and Meta-Analysis.

The aim of the review was to systematically review real-world data on the effectiveness and safety of pembrolizumab in recurrent/metastatic/unresectable head and neck squamous cell cancer (HNSCC) patients. Two independent reviewers retrieved the studies separately and simultaneously. PubMed, Embase, Scopus, Web of Science, and Cochrane Central were searched for prospective and retrospective studies on recurrent/metastatic/unresectable HNSCC patients treated with either pembrolizumab monotherapy or pembrolizumab combination therapy published till November 2024.

Revisiting the role of pathogen diversity and microbial interactions in honeybee susceptibility and treatment of infection.

European Foulbrood (EFB) is a severe bacterial disease affecting honeybees, primarily caused by the Gram-positive bacterium . Although the presence of is associated with EFB, it does not consistently predict the manifestation of symptoms, and the role of 'secondary invaders' in the disease's development remains a subject of ongoing debate. This review provides an updated synthesis of the microbial ecological factors that influence the expression of EFB symptoms, which have often been overlooked in previous research.

Low-density scalp electrical source imaging of the ictal onset zone network using source coherence maps.

Introduction: This study investigated low-density scalp electrical source imaging of the ictal onset zone and interictal spike ripple high-frequency oscillation networks using source coherence maps in the pediatric epilepsy surgical workup. Intracranial monitoring, the gold standard for determining epileptogenic zones, has limited spatial sampling. Source coherence analysis presents a promising new non-invasive technique.