Knockdown of hepatic mitochondrial calcium uniporter mitigates MASH and fibrosis in mice.

Background: Mitochondrial calcium uniporter (MCU) plays pleiotropic roles in cellular physiology and pathology that contributes to a variety of diseases, but the role and potential mechanism of MCU in the pathogenesis of metabolic dysfunction-associated steatohepatitis (MASH) remain poorly understood.

Methods And Results: Here, hepatic knockdown of MCU in C57BL/6J mice was achieved by tail vein injection of AAV8-mediated the CRISPR/Cas9. Mice were fed a Choline-deficient, L-amino acid-defined high-fat diet (CDAHFD) for 8 weeks to induce MASH and fibrosis.

Analysis of the efficacy and adverse effects of nusinersen in the treatment of children with spinal muscular atrophy in China.

Objective: This study was based on a retrospective clinical observational cohort study of a two-center application of nusinersen in China to evaluate the clinical efficacy and adverse effects of nusinersen in the treatment of SMA (spinal muscular atrophy) Types 1-3.

Methods: Clinical data from children with clinically and genetically confirmed 5qSMA from a double center in western China (the Second Affiliated Hospital of Xi'an Jiaotong University and the Second Hospital of West China of Sichuan University). All children were younger than 18 years of age.

Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III.

Aims: Classification of spinal muscular atrophy (SMA) is associated with the clinical prognosis; however, objective classification markers are scarce. This study aimed to identify metabolic markers in the cerebrospinal fluid (CSF) of children with SMA types II and III.

Methods: CSF samples were collected from 40 patients with SMA (27 with type II and 13 with type III) and analyzed for metabolites.

Investigating the Effects of Perampanel on Autophagy-mediated Regulation of GluA2 and PSD95 in Epilepsy.

Epilepsy is a chronic neurological disorder characterized by recurrent seizures. Despite various treatment approaches, a significant number of patients continue to experience uncontrolled seizures, leading to refractory epilepsy. The emergence of novel anti-epileptic drugs, such as perampanel (PER), has provided promising options for effective epilepsy treatment.

Neurophysiological Characteristics in Type II and Type III 5q Spinal Muscular Atrophy Patients: Impact of Nusinersen Treatment.

Objective: This study aimed to observe the neurophysiological characteristics of type II and type III 5q spinal muscular atrophy (SMA) patients and the changes in peripheral motor nerve electrophysiology after Nusinersen treatment, as well as the influencing factors.

Methods: This single-center retrospective case-control study collected clinical data and peripheral motor nerve CMAP parameters from 42 5qSMA patients and 42 healthy controls at the Second Affiliated Hospital of Xi'an Jiaotong University (January 2021 to December 2022). It evaluated changes in motor function and CMAP amplitude before and after Nusinersen treatment.

Clinical observation and analysis of rash caused by lacosamide in children with epilepsy.

Purpose: To draw clinical attention to rashes caused by lacosamide.

Methods: This retrospective analysis included patients admitted to the Department of Pediatrics, Second Affiliated Hospital of Xi'an Jiaotong University between January 2021 and September 2023. We focused on patients who developed rashes after lacosamide treatment and analyzed all patients who exhibited rashes after lacosamide treatment to analyze the risk factors.

Effectiveness of vagus nerve stimulation for drug-resistant generalized epilepsy in children aged six and younger.

Background: To explore a novel scoring system to evaluate the efficacy of vagus nerve stimulation (VNS) in children with drug-resistant generalized epilepsy (DRGE) aged six and younger.

Basic Procedures: The data of twelve children with DRGE under the age of 6 years who accepted VNS and have been followed up for at least 3 years were retrospectively reviewed. The outcome was evaluated with the McHugh Classification System and a novel scoring system we proposed.

Changes in sleep quality of children with epilepsy and anxiety of their caregivers after COVID-19 infection: a case-series report.

Objective: To study the changes in epileptic seizures and sleep quality in children with epilepsy (CWE) and the changes in anxiety of their caregivers after infection with COVID-19.

Methods: Outpatients and inpatients of CWEs were selected as subjects and a questionnaire survey was used to carry out this case-series study. The demographic information of the CWEs and their caregivers, information about epilepsy, and information about the vaccination, infection, and treatment of COVID-19 were collected.

The ketogenic diet for Dravet syndrome: A multicenter retrospective study.

Objective: The ketogenic diet (KD) is one of the main treatments for drug-resistant epilepsy. However, there have been few multicenter reports on the use of the KD for the treatment of Dravet syndrome (DS). The aim of this study was to analyze the efficacy and safety of this approach based on a large number of multicenter cases.

Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study.

Background: Spinal muscular atrophy (SMA) is a progressive degenerative neuromuscular disease. Nusinersen, with its quick onset of action, can benefit patients early in the treatment course. However, there are currently no clinical studies regarding the improvement in motor function and nutritional status of patients after loading period treatment with nusinersen.

Minigene Assay as an Effective Molecular Diagnostic Strategy in Determining the Pathogenicity of Noncanonical Splice-Site Variants in FLCN.

Primary spontaneous pneumothorax (PSP) or pulmonary cyst is one of the manifestations of Birt-Hogg-Dubé syndrome, which is caused by pathogenic variants in FLCN gene. Genetic testing in patients with PSP identifies a certain number of missense or intronic variants. These variants are usually considered as variants of uncertain significance, whose functional interpretations pose a challenge in clinical genetics.

Progress in Probe-Based Sensing Techniques for In Vivo Diagnosis.

Advancements in robotic surgery help to improve the endoluminal diagnosis and treatment with minimally invasive or non-invasive intervention in a precise and safe manner. Miniaturized probe-based sensors can be used to obtain information about endoluminal anatomy, and they can be integrated with medical robots to augment the convenience of robotic operations. The tremendous benefit of having this physiological information during the intervention has led to the development of a variety of in vivo sensing technologies over the past decades.

Efficacy and adverse reactions of perampanel in the treatment of epilepsy in children.

Objective: To observe the clinical effect and adverse reactions of perampanel in the treatment of epilepsy in children.

Methods: A retrospective analysis was performed on 83 children with epilepsy who were treated with perampanel in the Department of Pediatric Neurology, Second Affiliated Hospital of Xi'an Jiaotong University from April to August 2021. The treatment status, prognosis and adverse reactions were followed up.

Impact of waste of COVID-19 protective equipment on the environment, animals and human health: a review.

During the Corona Virus Disease 2019 (COVID-19) pandemic, protective equipment, such as masks, gloves and shields, has become mandatory to prevent person-to-person transmission of coronavirus. However, the excessive use and abandoned protective equipment is aggravating the world's growing plastic problem. Moreover, above protective equipment can eventually break down into microplastics and enter the environment.

Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing.

Duchenne muscular dystrophy (DMD, MIM #310200) and Becker muscular dystrophy (BMD, MIM #300376) are X-linked recessive hereditary diseases caused by pathogenic variants in the DMD gene. Genetic testing of DMD identifies a certain number of variants of uncertain clinical significance (VUS) whose functional interpretations pose a challenge for gene-based diagnosis. To improve the accuracy of variant interpretation in public mutation repositories, we used computational tools to prioritize VUS and developed a cell-based minigene assay to confirm aberrant splicing.

2,2',4,4'-Tetrabromodiphenyl ether disrupts spermatogenesis in mice by interfering with the ER-Nrf1-Tfam-mitochondria pathway.

2,2',4,4' -tetrabromodiphenyl ether (BDE47), a well-known endocrine disruptor of the estrogen receptor (ER) is toxic to the mitochondria and spermatogenesis. This study aimed to explore the mechanism of BDE47 on spermatogenesis in mammals. Adult male Institute of Cancer Research (ICR) mice were gavaged daily with BDE47 (0, 1, or 10 mg/kg bw) for 8 weeks.

Study on Permeability Characteristics of Porous Transparent Gels Based on Synthetic Materials.

Advanced knowledge of the permeability characteristics of transparent gels play a key role in providing a rational basis for the study of porous polymer permeability and the research on the migration behavior of superpolymer solutions. Thus, a new type of transparent gel was prepared to simulate porous media, with aim to observe and analyze the permeability characteristics of transparent gel under the conditions of our experimental design by combining a transparent soil test and simple particle image velocimetry. The experimental results showed that the permeability of the transparent gel was similar to that through actual soil.

Nobiletin mitigates hepatocytes death, liver inflammation, and fibrosis in a murine model of NASH through modulating hepatic oxidative stress and mitochondrial dysfunction.

This study aimed to investigate the therapeutic effects of nobiletin (NOB) on nonalcoholic steatohepatitis (NASH) and liver fibrosis in mice and to elucidate its underlying molecular mechanisms. BALB/c mice were fed a normal chow diet or a choline-deficient, L-amino acid-defined, high-fat diet (CDAHFD) for 8 wks and treated with NOB (50 mg/kg) or vehicle by daily intraperitoneally injection for the last 4 wks. In vitro, we used palmitate (PA) stimulated AML12 cells as the model of hepatocyte lipotoxicity to dissect the effect and molecular mechanisms of NOB' action.

Quantitative phosphoproteomics reveals GSK3A substrate network is involved in the cryodamage of sperm motility.

During sperm cryopreservation, the most significant phenotype of cryodamage is the decrease in sperm motility. Several proteomics studies have already been performed to search for key regulators at the protein level. However, sperm functions are known to be highly regulated by phosphorylation signaling.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Purpose: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort.

Impairment of Cardiac Autonomic Nerve Function in Pre-school Children With Intractable Epilepsy.

Intractable epilepsy and uncontrolled seizures could affect cardiac function and the autonomic nerve system with a negative impact on children's growth. The aim of this study was to investigate the variability and complexity of cardiac autonomic function in pre-school children with pediatric intractable epilepsy (PIE). Twenty four-hour Holter electrocardiograms (ECGs) from 93 patients and 46 healthy control subjects aged 3-6 years were analyzed by the methods of traditional heart rate variability (HRV), multiscale entropy (MSE), and Kurths-Wessel symbolization entropy (KWSE).

CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.

Aims: CHD4 gene, encoding chromodomain helicase DNA-binding protein 4, is a vital gene for fetal development. In this study, we aimed to explore the association between CHD4 variants and idiopathic epilepsy.

Methods: Trios-based whole-exome sequencing was performed in a cohort of 482 patients with childhood idiopathic epilepsy.

Key proteins of proteome underlying sperm malformation of rats exposed to low fenvalerate doses are highly related to P53.

Fenvalerate (Fen) is an endocrine disruptor, capable of interfering with the activity of estrogen and androgen. Our objective was to explore the molecular mechanisms of Fen on sperm in vivo. Adult male Sprague-Dawley rats were orally exposed to 0, 0.

Effects of ketogenic diet on cognitive function in pentylenetetrazol-kindled rats.

Although the ketogenic diet (KD) is known to control seizures and improve cognition function in patients with drug-refractory epilepsy, the underlying mechanism remains unknown. In the present study, using pentylenetetrazol (PTZ)-induced and kindled rats, we found that KD significantly improved the impaired spatial reference memory of PTZ-kindled rats in the Morris water maze. To explore the mechanism underlying the action of KD in PTZ-kindled rats, quantitative real-time PCR (qRT-PCR) and immunohistochemical analysis were used to detect the expression of GluR1 and NR2B.