Clinical characteristics of children with anti-N-methyl-D-aspartate receptor encephalitis with and without anti-myelin oligodendrocyte glycoprotein antibody.

Unlabelled: To analyze the clinical characteristics of an overlapping syndrome, MNOS, of anti-myelin oligodendrocyte glycoprotein antibody (MOG-Ab) coexisting with anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) in children. We included patients with NMDARE at Children's Hospital of Chongqing Medical University between 2018 and 2022 and conducted a comparison between NMDARE with and without MOG-Ab. Among 163 patients with NMDARE, 15 individuals tested positive for MOG-Ab.

Pediatric MOG antibody-positive encephalitis with normal brain magnetic resonance imaging: a new spectrum associated with MOG antibodies?

Objective: To facilitate the accurate identification of clinical characteristics associated with myelin oligodendrocyte glycoprotein (MOG) antibody positive encephalitis in children presenting with normal brain magnetic resonance imaging (MRI) findings.

Method: Patients hospitalized at Children's Hospital of Chongqing Medical University from January 2016 to May 2024, who were positive for MOG antibodies and exhibited encephalitis symptoms with normal brain MRI findings, were retrospectively analyzed.

Results: A total of 17 patients (7 males and 10 females; mean age: 9.

Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish.

Background: Congenital disorders of glycosylation are a rare group of disorders characterized by impaired glycosylation, wherein STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex, which is crucial for protein N-glycosylation. Previous studies have reported that STT3A-CDG is caused by autosomal recessive inheritance. However, in this study, we propose that STT3A-CDG can be pathogenic through autosomal dominant inheritance.

Motor function and compound muscle action potential amplitude in children with spinal muscular atrophy treated with nusinersen.

Background: Disease-modifying therapies can improve motor function in patients with spinal muscular atrophy (SMA), but efficacy varies between individuals. The aim was to evaluate the efficacy and safety of nusinersen treatment in children with SMA and to investigate prognostic factors.

Methods: Motor function, compound muscle action potential (CMAP), and other indicators were prospectively collected before and 14 months after nusinersen treatment.

[Leigh syndrome caused by the mitochondrial m.8993T>G mutation with hypocitrullinemia: a report of four cases and literature review].

Objectives: To explore early diagnostic biological markers for Leigh syndrome caused by the m.8993T>G mutation.

Methods: A retrospective analysis was performed on the clinical data of four children diagnosed with m.

Risk factors for patients with tracheal stenosis: a systematic review and meta-analysis.

Objective: To systematically evaluate potential risk factors for tracheal stenosis and to provide a reference for the prevention and management of patients with this condition.

Methods: Databases were searched to identify studies of the risk factors for tracheal stenosis, from their inception to October 2023, then a meta-analysis was performed. The study was registered with PROSPERO under the registration number CRD42023428906.

Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China.

Objective: To evaluate the effectiveness and safety of nusinersen for the treatment of 5q-spinal muscular atrophy (SMA) among Chinese pediatric patients.

Methods: Using a longitudinal, multi-center registry, both prospective and retrospective data were collected from pediatric patients with 5q-SMA receiving nusinersen treatment across 18 centers in China. All patients fulfilling the eligibility criteria were included consecutively.

Mediating effects of sleep quality between clinical characteristics and quality of life in children with epilepsy: A cross-sectional study from Southwest China.

Background: Although sleep quality (SQ) reportedly affects the health-related quality of life (QOL) of patients with epilepsy, little is known about the potential association between SQ and QOL, particularly in children with epilepsy (CWE). Our study aimed to investigate the mediating effect of SQ on the QOL of CWE to obtain more information for the prevention and treatment of epilepsy in children.

Methods: We collected general demographic and clinical data of 212 CWE and 79 controls (children who visited the Health Examination Department), and their guardians were instructed to answer the Children's Sleep Habits Questionnaire (CSHQ) and the optimized Quality of Life in Childhood Epilepsy Questionnaire-16 (QOLCE-16).

Evaluating the performance of the language model ChatGPT in responding to common questions of people with epilepsy.

Objective: People with epilepsy desire to acquire accurate information about epilepsy and actively engage in its management throughout the long journey of living with seizures. ChatGPT is a large language model and we aimed to assess the accuracy and consistency of ChatGPT in responding to the common concerns of people with epilepsy and to evaluate its ability to provide emotional support.

Methods: Questions were collected from the International League against Epilepsy and the China Association against Epilepsy.

A 1-year analysis from a natural history study in Chinese individuals with Duchenne muscular dystrophy.

Background: Duchenne muscular dystrophy (DMD) is a disabling and life-threatening, X-linked recessive disorder caused by mutations in dystrophin. Natural history studies can inform the disease characteristics of DMD, and data from these studies can be used to plan and design clinical trials and as external controls for long-term studies. We report 12-month results from the largest natural history study of individuals with DMD in China receiving standard of care treatment.

The effect of lactic acid bacteria fermentation on physicochemical properties of starch from fermented proso millet flour.

A waxy and a non-waxy proso millet flour were each fermented by Lactobacillus amylovorus, Lactobacillus fermentum, and Lactobacillus plantarum. The samples were fermented for one to five days, and starch was isolated from the fermented flours. The pH of fermented proso millet flour ranged from 3.

Clinical and electroencephalographic characteristics of 34 infant with onset of epileptic spasms before three months of age.

Epileptic spasms (ES) occur mostly between age 3 months and 24 months. ES beginning before 3 months of age were called early-onset ES in previous studies. The aim of this study was to identify clinical and electroencephalographic characteristics of patients with ES onset before 3 months of age.

Elevated serum levels of the NLRP3 inflammasome are associated with the severity of anti-NMDAR encephalitis in children.

Background: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common autoimmune encephalitis, mainly impacting young females and children. The involvement of the Nod-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome and related cytokines in pediatric individuals with this condition remains unclear.

Methods: We collected information from 27 children who had anti-NMDAR encephalitis and 12 individuals with non-inflammatory neurological disorders as controls.

Oxidative stress induces mitochondrial iron overload and ferroptotic cell death.

Oxidative stress has been shown to induce cell death in a wide range of human diseases including cardiac ischemia/reperfusion injury, drug induced cardiotoxicity, and heart failure. However, the mechanism of cell death induced by oxidative stress remains incompletely understood. Here we provide new evidence that oxidative stress primarily induces ferroptosis, but not apoptosis, necroptosis, or mitochondria-mediated necrosis, in cardiomyocytes.

Pediatric myasthenia gravis with a combination of AChR and RyR is associated with an earlier onset and lower CSR rate: A cohort study in southwest China.

Background: The clinical manifestations and prognosis of myasthenia gravis are related to antibodies, and children are affected differently than adults. The presence of ryanodine receptor and titin antibodies in adults indicates late onset and severe disease related to thymoma, but their role in children is rarely reported.

Methods: This study collected a cohort of children according to inclusion and exclusion criteria, consisting of antibody-negative, AChR-positive, and AChR with or without titin and RyR antibodies.

Clinical characteristics of autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy in children: A case series of 16 patients.

Purpose: To investigate the clinical characteristics of autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy in children.

Methods: We reviewed the medical records of Children's Hospital of Chongqing Medical University from January 2020 to September 2021 and retrospectively analysed the clinical features, magnetic resonance imaging (MRI) findings, laboratory findings, treatment and outcome of children with autoimmune GFAP astrocytopathy.

Results: Sixteen patients were included: 6 and 10 tested positive for GFAP-IgG in cerebrospinal fluid (CSF) and both CSF and serum, respectively.

The Functional Movement Screen and Self-reported Injury in Senior Military College Cadets.

Introduction: Secular trend of increasing musculoskeletal injuries (MSKIs) across all branches of the U.S. Military is a critical limiting factor in the effective and efficient process of preparing military personnel for combat.

Ferroptosis contributes to catecholamine-induced cardiotoxicity and pathological remodeling.

High levels of circulating catecholamines cause cardiac injury, pathological remodeling, and heart failure, but the underlying mechanisms remain elusive. Here we provide both in vitro and in vivo evidence that excessive β-adrenergic stimulation induces ferroptosis in cardiomyocytes, revealing a novel mechanism for catecholamine-induced cardiotoxicity and remodeling. We found that isoproterenol, a synthetic catecholamine, promoted glutathione depletion and glutathione peroxidase 4 (GPX4) degradation in cardiomyocytes, leading to GPX4 inactivation and enhanced lipid peroxidation.

Clinical study on cognitive impairment in Duchenne muscular dystrophy.

Our study aimed to explore the intellectual function of patients with Duchenne muscular dystrophy (DMD) in China and examine the correlation of full-scale intelligence quotient (FSIQ) with age, mutation locations, mutation class, and dystrophin isoforms. We assessed 64 boys with DMD using The Wechsler Intelligence Scales for Children-Fourth Edition and compared intellectual function at enrollment and follow-up in the 15 patients who completed the follow-up. Our findings confirm that boys with DMD may exhibit cognitive impairment, with the Working Memory Index being the most impaired.

Characterization of starch extracted from seeds of .

Introduction: Starch is major component in the big seeds of , however the characteristics of remain unknown.

Methods: In this study, the physicochemical and structural properties of two starch samples extracted from seeds were systematically investigated, using various techniques.

Results: The amylose contents of the two samples were 34.

Retrosynthetic planning with experience-guided Monte Carlo tree search.

In retrosynthetic planning, the huge number of possible routes to synthesize a complex molecule using simple building blocks leads to a combinatorial explosion of possibilities. Even experienced chemists often have difficulty to select the most promising transformations. The current approaches rely on human-defined or machine-trained score functions which have limited chemical knowledge or use expensive estimation methods for guiding.