Integrating Chronic Disease Management and Harm Reduction for Youth with Juvenile Idiopathic Arthritis Amid Canada's Overdose Crisis.

Juvenile idiopathic arthritis (JIA) is a chronic autoimmune condition in children that often requires long-term pain management, which can include opioid use. In the context of Canada's ongoing overdose crisis, youth with JIA face risks due to potential opioid dependency and exposure to toxic drug supplies. This commentary proposes an integrated approach combining chronic disease management with harm reduction strategies specifically tailored for JIA patients.

Novel Gene Variants in Chinese Children with Non-Syndromic Tooth Agenesis: A Clinical and Genetic Analysis.

Background: Tooth agenesis is the most frequently occurring genetic developmental anomaly in clinical dentistry. The gene, essential for tooth development, has been associated with non-syndromic tooth agenesis. This study aims to identify novel variants associated with this condition and to understand their impact on tooth development.

Ex Vivo Fluorescence Confocal Microscopy Meets Innovation and Revolutionary Technology, for "Real-Time" Histological Evaluation, in Pediatric Surgical Oncology.

Background And Aim: Ex vivo fluorescence confocal microscopy (FCM) systems are innovative optical imaging tools that create virtual high-resolution histological images without any standard tissue processing, either freezing or fixing in formalin and embedding in paraffin. These systems have opened an era that would revolutionize pathological examination by providing rapid, real-time assessments across various pathology subspecialties, potentially replacing conventional methods that are tissue- and time-consuming. This study aimed to present the first utilization of FCM in pediatric surgical oncology, focusing on assessing the benefits, particularly in facilitating rapid and accurate diagnosis.

Outbreak of Acute Fulminant Myocarditis in Children in Campania Region, Italy: A Case Series.

Acute fulminant myocarditis is a rare event in children, accounting for about 10% of all cases of acute myocarditis. Its lack of specific onset patterns and unpredictable evolution make diagnosis and prompt treatment challenging. We observed six cases of fulminant myocarditis admitted to our Pediatric Emergency Unit (Campania region, Sothern Italy) within a very short timeframe (50 days, from July to September 2024).

D-Serine May Ameliorate Hippocampal Synaptic Plasticity Impairment Induced by Patients' Anti-N-methyl-D-aspartate Receptor Antibodies in Mice.

: To establish a mouse model of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis and assess the potential therapeutic benefits of D-serine supplementation in mitigating synaptic plasticity impairments induced by anti-NMDAR antibodies. : Anti-NMDAR antibodies were purified from cerebrospinal fluid (CSF) samples of patients diagnosed with anti-NMDAR encephalitis and verified using a cell-based assay. CSF from patients with non-inflammatory neurological diseases served as the control.

Extracellular Vesicles from Mesenchymal Stem Cells: Potential as Therapeutics in Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD).

Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by the accumulation of triglycerides within hepatocytes, which can progress to more severe conditions, such as metabolic dysfunction-associated steatohepatitis (MASH), which may include progressive fibrosis, leading to cirrhosis, cancer, and death. This goal of this review is to highlight recent research showing the potential of mesenchymal stem cell-derived extracellular vesicles (MSC-EVs) in reducing the key pathogenic pathways of MASLD or MASH. Relevant published studies were identified using PubMed with one or more of the following search terms: MASLD, MASH, NAFLD, NASH, exosome, extracellular vesicle (EV), therapy, and/or mesenchymal stem cells (MSC).

Anaplastic Lymphoma Kinase (ALK) Inhibitors Enhance Phagocytosis Induced by CD47 Blockade in Sensitive and Resistant ALK-Driven Malignancies.

Background: Anaplastic lymphoma kinase (ALK) plays a role in the development of lymphoma, lung cancer and neuroblastoma. While tyrosine kinase inhibitors (TKIs) have improved treatment outcomes, relapse remains a challenge due to on-target mutations and off-target resistance mechanisms. ALK-positive (ALK+) tumors can evade the immune system, partly through tumor-associated macrophages (TAMs) that facilitate immune escape.

Early Transpyloric Tube Feeding in Preventing Adverse Respiratory Events in Extremely Low Birth Weight Infants.

Background: It has been demonstrated that aspiration during endotracheal intubation in preterm infants with gastroesophageal reflux is a contributing factor in the worsening of lung diseases and the development of bronchopulmonary dysplasia (BPD). This study aims to compare the safety and efficacy of early transpyloric (TP) tube feeding with that of nasogastric (NG) tube feeding in relation to BPD.

Methods: The study population consisted of 39 extremely low birth weight infants (ELBWIs) with mechanical ventilation and an enteral feeding volume of 50 mL/kg/day, which were randomly assigned to different groups based on the method of tube feeding.

Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.

The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.

Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.

: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. : We screened datasets of 403 male, genetically confirmed X-linked dystrophinopathy patients and identified 13 pathogenic variants of the gene that have not been described in the literature thus far.

Bone Marrow Stem Cell Population in Single- and Multiple-Level Aspiration.

Background: Bone marrow aspiration concentrate (BMAC) has garnered increasing interest due to its potential for healing musculoskeletal injuries. While the iliac crest remains a common harvest site, the aspiration technique's efficacy in offering the highest yield and prevalence of mesenchymal stem cells (MSCs) is controversial. This study aimed to compare two different techniques of bone marrow aspiration over the anterior iliac crest from a single level versus multiple levels.

Taurine Supplementation Alleviates Blood Pressure via Gut-Brain Communication in Spontaneously Hypertensive Rats.

Objects: Taurine exhibits protective effects in the context of cardiovascular pathophysiology. A range of evidence suggests that hypertension activates inflammatory responses and oxidative stress in the paraventricular nucleus (PVN), elevating the arterial tone and sympathetic activity, while it induces gut-brain axis dysfunction in the context of hypertension. However, the mechanism underlying taurine's anti-hypertensive effects via the gut-brain axis remains unclear.

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.

Rare movement disorders often have a genetic etiology. New technological advances have increased the odds of achieving genetic diagnoses: next-generation sequencing (NGS) (whole-exome sequencing-WES; whole-genome sequencing-WGS) and long-read sequencing (LRS). In 2017, we launched a WES program for patients with rare movement disorders of suspected genetic etiology.

Assessing Educational Impact of Worldwide Webinar on Management of Myopia Progression in Children.

Objective: To assess the educational impact of a worldwide webinar approach to myopia progression management in children <8 years and 8-12 years old.

Design: Cross-sectional study.

Methods: A self-administered survey was conducted for attendees of a 3 h worldwide webinar held in two parts on consecutive days on the management of myopia progression in children.

Periodontitis, Metabolic Syndrome and Diabetes: Identifying Patients at Risk for Three Common Diseases Using the aMMP-8 Rapid Test at the Dentist's Office.

This narrative review paper highlights the multifaceted influence of dysbiotic biofilm, genetic background, host response, and environmental factors on periodontitis. It explores the roles of type I and II diabetes mellitus, gestational diabetes, and metabolic syndrome in the progression of periodontitis, drawing insights from various empirical studies and theoretical perspectives. : Relevant articles were sourced using keywords in databases like PubMed/Medline, Science Direct, Scopus, and Google Scholar.

Non-Invasive Ventilation Failure in Pediatric ICU: A Machine Learning Driven Prediction.

: Non-invasive ventilation (NIV) has emerged as a possible first-step treatment to avoid invasive intubation in pediatric intensive care units (PICUs) due to its advantages in reducing intubation-associated risks. However, the timely identification of NIV failure is crucial to prevent adverse outcomes. This study aims to identify predictors of first-attempt NIV failure in PICU patients by testing various machine learning techniques and comparing their predictive abilities.

Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.

The joint College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee works to ensure the competency and proficiency of clinical cytogenetic testing laboratories through proficiency testing (PT) programs for various clinical tests offered by such laboratories, including the evaluation of cytogenetic abnormalities in solid tumors. Review and analyze 25 years (1999-2023) of solid tumor chromosome analysis PT results, utilizing G-banded karyograms. A retrospective review of results from 1999 to 2023 was performed, identifying the challenges addressing solid tumors.

Expanding the Clinical Spectrum of Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.

: Biallelic pathogenic variants in the gene are typically associated with severe, early-onset inherited retinal dystrophies (IRDs) in both syndromic and non-syndromic forms. This study explores the phenotypic variability of non-syndromic IRDs associated with variants, focusing on two siblings with biallelic variants, one of whom exhibits a remarkably mild phenotype, thereby expanding the clinical spectrum. : Whole-exome sequencing (WES) and mRNA analysis were performed to identify and characterize variants in the siblings.

Two Novel Biallelic Variants in the Gene: The First Italian Case and a Literature Review.

: The gene encodes for the catalytic α subunit of Cytoplasmic phenylalanine-tRNA synthetase (FARS1), an essential enzyme for protein biosynthesis in transferring its amino acid component to tRNAs. Biallelic pathogenic variants have been associated with a multisystemic condition, characterized by variable expressivity and incomplete penetrance. Here, we report the case of an 11 year-old girl presenting interstitial lung disease, supratentorial leukoencephalopathy with brain cysts, hepatic dysfunction, hypoalbuminemia, skin and joint hyperlaxity, growth retardation, and dysmorphic features.

Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.

Background: Variants within factor VIII (F8) are associated with sex-linked hemophilia A and thrombosis, with gene therapy approaches being available for pathogenic variants. Many variants within F8 remain variants of uncertain significance (VUS) or are under-explored as to their connections to phenotypic outcomes.

Methods: We assessed data on F8 expression while screening the UniProt, ClinVar, Geno2MP, and gnomAD databases for F8 missense variants; these collectively represent the sequencing of more than a million individuals.

Knowledge, Attitudes, and Practices Toward Antibiotic Use in Food-Producing Animals Among University Students in Seven Cities in Southern and Central China: A Cross-Sectional Study.

The misuse of antibiotics in both humans and food-producing animals poses significant risks to human health and contributes to the rise of antibiotic resistance. Raising public awareness is crucial to managing antibiotic resistance, particularly among university students, as they represent a future force in tackling this global issue. A cross-sectional study was conducted from July 2022 to May 2024 in seven cities in Southern and Central China to assess university students' knowledge, attitude, and practice regarding antibiotic use in humans and food-producing animals.

Clinical Utility of Broad-Range PCR Testing and Impact on Outcomes in Adults with Suspected Infection.

: The development of broad-range polymerase chain reaction (BR-PCR) and next-generation sequencing techniques has significant implications for antimicrobial stewardship by increasing clinicians' ability to provide a tailored antimicrobial regimen. We sought to explore the clinical utility of BR-PCR testing and its impact on antimicrobial treatment among an adult cohort in a large hospital system. : We retrospectively evaluated samples that underwent BR-PCR testing between 2017 and 2021 and summarized their clinical characteristics and impact on antimicrobial therapy.

Assessing the Theoretical Efficacy of Combination Therapy Against Gram-Negative Infections in Neutropenic Pediatric Cancer Patients: Insights from the Statistical Analysis of Survey Data.

: Empirical antibacterial therapy for febrile neutropenia reduces mortality due to Gram-negative blood stream infections (BSIs). Pediatric guidelines recommend monotherapy with an antipseudomonal beta-lactam or a carbapenem and to add a second anti-Gram-negative agent in selected situations. We evaluated the changes in the proportions of resistance of beta-lactam monotherapies vs.

Integrating Diagnostic Approaches in Infant Bacterial Meningitis Caused by a Non-K1 : A Case Report.

Background: Infant meningitis, particularly caused by , remains a life-threatening condition, especially in premature and low-weight infants. Infections of the central nervous system can be fatal, necessitating prompt diagnosis and appropriate treatment. Acute infections caused by various pathogens, including , often present with similar clinical symptoms.