Reliable and sensitive ultra-short chain per- and polyfluorinated alkyl substances (PFAS) analysis in food: a polar reverse-phase chromatography approach.

Food contamination by per- and polyfluoroalkyl substances (PFAS), especially ultra-short-chain (USC) compounds, poses a growing concern due to their environmental persistence and potential health risks. Despite the developing regulatory framework, analytical challenges persist in quantifying polar USC-PFAS in complex content food matrices. This study presents the development and validation of a novel high-performance liquid chromatography coupled to a tandem mass spectrometer (HPLC-MS/MS) method for the accurate determination of USC-PFAS (carbon chain length from one to four, C1-C4) in tomato-based products (i.

A Multidimensional and Integrated Rehabilitation Approach (A.M.I.R.A.) for Infants at Risk of Cerebral Palsy and Other Neurodevelopmental Disabilities.

Early experiences can significantly influence brain development, particularly when they occur during specific time windows known as sensitive or critical periods. Therefore, the early promotion of neurodevelopmental functions is crucial in children at risk for neurodevelopmental disabilities, such as those with cerebral palsy. This article introduces AMIRA (A Multidimensional and Integrated Rehabilitation Approach), a rehabilitative framework designed for infants at risk of neurodevelopmental disabilities.

The Clinical Significance of Atrial Fibrillation in Non-High-Risk Brugada Syndrome: The BruFib Study.

Background: Atrial fibrillation (AF) occurs in up to 20% of patients with Brugada syndrome (BrS), yet its risk factors and prognostic implications remain uncertain.

Objectives: This study sought to identify risk factors for AF in patients with non-high-risk BrS and to evaluate the impact of AF on ventricular arrhythmias (VAs), sick sinus syndrome (SSS), and stroke in non-high-risk BrS.

Methods: This was a multicenter, retrospective study conducted across 20 international centers.

Artificial intelligence in pharmacovigilance signal management: a review of tools, implementations, research, and regulatory landscape.

Introduction: The integration of artificial intelligence (AI) into pharmacovigilance (PV) has advanced rapidly in recent years. AI tools have the potential to transform signal management by enabling faster and more accurate signal management and decision-making. However, the regulatory landscape governing these technologies remains complex.

Long-term TCDD oral exposure changes gut microbial glycosylation patterns in female but not male C57BL/6 mice.

2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) at high doses damages the liver and disrupts gut microbiota in mice. We investigated whether very low TCDD doses also cause dysbiosis and if sex-specific differences exist. Male and female C57BL/6 mice received 1 µg TCDD/kg body weight initially and maintenance doses biweekly for 12 weeks; controls received DMSO/corn oil.

Assessing the toxicity of traffic-derived air pollution using a primary human air-liquid interface airway in vitro model.

Traffic-derived air pollution (TDAP) frequently exceeds the 2021 World Health Organization air quality guideline levels and is linked to respiratory diseases through molecular mechanisms such as oxidative stress and inflammation. To determine these mechanisms without relying on animal models and inter-species extrapolation, physiologically relevant human in vitro models are promising tools. We sought to investigate the oxidative stress and inflammatory responses to TDAP in a co-culture model of the human lung.

Reprogramming Patient-Derived urine cells into iPSCs for Anti-GAD65 autoimmune encephalitis research.

Urine cells from a patient with anti-GAD65autoantibody-associated autoimmune limbic encephalitis (ALE) were reprogrammed intoiPSCline IUFi020-A. Pluripotency was confirmed throughhiPSCore analysis while G-banding and CNVanalysis demonstrated that IUFi020-A exhibits characteristic features of a bona fide iPSC line with no genetic changes compared to the donor urine cells. STRanalysis further confirmed that IUFi020-A was derived from the parental urine cells.

Generation of two iPSC lines with pathogenic DMD nonsense mutations c.4729C>T and c.5713G>T.

Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder characterized by progressive degeneration of skeletal and cardiac muscles, typically beginning in early childhood. Here, we describe the generation of two isogenic induced pluripotent stem cell (iPSC) lines engineered using CRISPR-Cas12 to introduce specific nonsense mutations in the DMD gene: c.4729C>T (p.

Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis.

We report the first case of pleural mesothelioma (PM) occurring in a child affected by NF2-related schwannomatosis (NF2-SWN) and without any history of environmental exposure to asbestos. Mesothelioma is a rare secondary tumor in brain cancer patients and the association with NF2-SWN has been described only in a few anecdotal cases and never in the pediatric field. NF2-SWN is an autosomal dominant disease caused by inactivating germline mutations of the tumor suppressor gene, one of the most common mutations associated with human primary mesothelioma too.

The transcriptomic signature of DEPDC5 KO induced mTOR hyperactivation in human neurons and its response to rapamycin treatment.

Objective: Mutations of the DEP Domain Containing 5 gene (DEPDC5), a mechanistic Target of Rapamycin (mTOR) inhibitor involved in amino acid sensing, are associated with neurological diseases such as epilepsy and/or autism spectrum disorder (ASD). Loss of DEPDC5 impacts early neuronal development via mTOR hyperactivity. Although, in the mTOR-hyperactivity-associated syndrome tuberous sclerosis, mTOR inhibitors have proven to be beneficial in treating epilepsy, ASD-associated symptoms are ameliorated only partially.

The potassium channel K2.1 shapes the morphology and function of brain endothelial cells via actin network remodeling.

K2.1 (gene: Kcnk2), a two-pore-domain potassium channel, regulates leukocyte transmigration across the blood-brain barrier by a yet unknown mechanism. We demonstrate that Kcnk2 mouse brain microvascular endothelial cells (MBMECs) exhibit an altered cytoskeletal structure and surface morphology with increased formation of membrane protrusions.

Integrated phenotypic and transcriptomic characterization of desmin-related cardiomyopathy in hiPSC-derived cardiomyocytes and machine learning-based classification of disease features.

Desmin-related diseases are characterized by skeletal muscle weakness, cardiomyopathy, and respiratory dysfunction due to mutations in the desmin gene (DES), which encodes a protein essential for muscle cell integrity. This study investigates the effects of a pathogenic desmin mutation (DES) in human cardiomyocytes derived from human induced pluripotent stem cells (hiPSCs) obtained from a patient carrying the DES mutation, compared to cardiomyocytes derived from hiPSCs of three healthy donors. To further validate our findings a genome edited cell line has been obtained following the insertion of the mutation in a control hiPSC line.

A New Wearable System for Personal Air Pollution Exposure Estimation: Pilot Observational Study.

Background: Air pollution is a major environmental cause of premature deaths, responsible for around 7 million deaths annually. In this context, personal air pollution exposure (PAPE), the product of pollutant concentration and minute ventilation (V'm), is a crucial measure for understanding individual health risks. Standard exposure techniques do not address the space-time variability of air pollution, both indoor and outdoor, and the intra- and intersubject variability in V'm.

Epitope Mapping Using Yeast Display and Next Generation Sequencing.

Monoclonal antibodies are the largest class of therapeutic proteins due in part to their ability to bind an antigen with a high degree of affinity and specificity. A precise determination of their epitope is important for gaining insight into their therapeutic mechanism of action and to help differentiate antibodies that bind the same antigen. Here we describe a method to precisely and efficiently map the epitopes of multiple antibodies in parallel over the course of just several weeks.

Can digestive biomarkers detect early effects of bifenthrin exposure in native fish?

The digestive health of fish is directly related to their ability to process food and therefore, to their welfare and growth performance. However, the digestive tract of fish is also one of the main routes of entry for pesticides, which could ultimately affect metabolism. The aim of this study was to assess the responses of digestive biomarkers in two native and commercially important fish species confined in cages in a rice field during a bifenthrin (BF) application.

The Importance of Neuroimaging Follow-Up in Bilirubin-Induced Encephalopathy: A Clinical Case Review.

Hyperbilirubinemia in newborns can lead to kernicterus, a severe form of neonatal encephalopathy caused by bilirubin toxicity. Despite timely interventions such as exchange transfusion, kernicterus can still develop, especially in high-risk infants. MRI is crucial for detecting early and evolving signs of bilirubin-induced brain damage.

Optimizing C-Type Natriuretic Peptide and Receptor Expression Analysis with Droplet Digital™ PCR: Advancing Biomarker Discovery for Brugada Syndrome?

Brugada syndrome (BrS) is a cardiac disease associated with characteristic ECG abnormalities and a heightened risk of sudden cardiac death, especially in young individuals with structurally normal hearts. The primary aim of this study was to highlight, for the first time, the potential of using droplet digital PCR (ddPCR), a highly sensitive method, to detect () and its receptors, and , expression in BrS. Whole-blood samples from 12 subjects with type 1 BrS and 12 controls were analyzed.

A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy.

Background: A 23-year-old male with arrhythmic syncope and a presumed diagnosis of COVID-19 myocarditis was ultimately diagnosed with biventricular arrhythmogenic cardiomyopathy based on cardiac magnetic resonance imaging (MRI) and genetic testing (next-generation sequencing).

Case Summary: The patient presented with recurrent syncope, frequent ventricular ectopics, and reduced left ventricular ejection fraction. Cardiac MRI revealed biventricular dysfunction and nonischemic late gadolinium enhancement with ring-like pattern.

CRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome.

The von Hippel-Lindau (VHL) tumor suppressor gene is crucial for cellular homeostasis, and its loss leads to VHL syndrome. To model early effects of VHL deficiency, we used CRISPR/Cas9 to generate human iPSC lines with heterozygous or homozygous out-of-frame deletions in exon 1. Both clones showed normal morphology, genomic stability, expression of undifferentiated markers, and tri-lineage differentiation potential.

Humoral and cellular immune responses in cattle upon vaccination and challenge.

Introduction: is the causative agent of blackleg, a severe disease in cattle. Vaccination reduces disease incidence but the immune mechanisms that underlie vaccine-induced protection remain poorly understood, particularly the role of cellular immunity. In this study we characterized the humoral and cellular immune responses induced by a polyclostridial vaccine and assessed their correlation with protection against a challenge.

Exploring the Limitations of Virtual Contrast Prediction in Brain Tumor Imaging: A Study of Generalization Across Tumor Types and Patient Populations.

Accurate and timely diagnosis of brain tumors is critical for patient management and treatment planning. Magnetic resonance imaging (MRI) is a widely used modality for brain tumor detection and characterization, often aided by the administration of gadolinium-based contrast agents (GBCAs) to improve tumor visualization. Recently, deep learning models have shown remarkable success in predicting contrast-enhancement in medical images, thereby reducing the need of GBCAs and potentially minimizing patient discomfort and risks.

Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome can Lead to Long-Term Neurological, Neuropsychological, and Cognitive Sequelae Associated with Cerebellar Atrophy.

To outline the long-term neuropsychological profile of a pediatric cohort with Opsoclonus-Myoclonus-Ataxia Syndrome (OMAS), and evaluate whether volumetric brain abnormalities correlate with clinical findings years after onset. Twelve patients diagnosed with OMAS between 2008 and 2020 (6 males, mean age 9.6 years, median follow-up 5.

Sleep architecture correlates with neurological and neurobehavioral short- and mid-term outcome in a sample of very preterm infants. A pilot study.

Newborns spend most of their time sleeping. This activity fosters neurodevelopment. Prematurity, defined by birth occurring prior the 37th week of gestation, disrupts normal brain in-utero programming, with long-lasting consequences that carry a high social burden.

Developmental coordination disorder and cerebral visual impairment: What is the association?

Introduction: Children with Developmental Coordination Disorder (DCD) experience impairments beyond motor planning, affecting visual perceptual and visual-motor integration abilities, similar to children with Cerebral Visual Impairment (CVI), making it challenging to distinguish between the two conditions. This study aimed to identify convergences and divergences in the clinical, neuropsychological, and functional vision-related skills of children with DCD and CVI.

Methods: An assessment of the neuropsychological profile (cognitive, visual cognitive, and motor coordination skills) and visual acuity were conducted on 65 children with DCD (mean age: 8 years, 1 month; SD: 1 year, 6 months) and 35 children with CVI (mean age: 8 years, 5 months; SD: 2 years, 6 months) and compared between the two groups.

Neonatal Perforator Stroke: Timing, Risk Factors, and Neurological Outcome from a Single-Center Experience.

Perforator stroke (PS) is a subtype of perinatal arterial ischemic stroke (PAIS), in which injuries occur in the territory of the perforator branches of the main cerebral arteries. This study aims to explore the incidence, timing, risk factors, and clinical presentation of PS in both preterm and full-term neonates. We retrospectively analyzed data about all the neonatal brain MRIs carried out in our hospital from March 2012 to March 2023.