Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

The spliceosome is a critical cellular machinery responsible for pre-mRNA splicing, essential for the proper expression of genes. Mutations in its core components are increasingly linked to neurodevelopmental disorders, such as primary microcephaly. Here, we investigated the role of SNW1, a spliceosomal protein, in splicing integrity and neurodevelopment.

Identification of a de Novo MARK2 gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay.

Autism spectrum disorder (ASD) is a neurodevelopmental condition that is frequently accompanied by developmental delay and epilepsy. There is increasing evidence that genetic factors play a key role and that variations in the MARK2 gene are associated with neurodevelopmental disorders. Nevertheless, clinical reports associating MARK2 variants with human disease remain limited.

Identification of Compound Heterozygous Variants in OBSCN Gene Associated With Rhabdomyolysis: A Case Report.

Background: The obscurin protein encoded by the OBSCN gene is an important structural protein in the regulation of myocyte sarcoplasmic nodule stability and sarcoplasmic reticulum function and is particularly closely associated with calcium ion (Ca) signaling. With increasing genomic studies, pathogenic variants in the OBSCN gene have been shown to be associated with a variety of inherited diseases, such as cardiomyopathy. However, case reports of its variants causing rhabdomyolysis are more limited.

Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China.

Background: Nusinersen was the first approved disease modifying therapy (DMT) for spinal muscular atrophy (SMA). Intrathecal administration of nusinersen enables drug delivery directly to the central nervous system, where the motor neurons are located. Per the package insert, individuals with SMA receive 4 loading doses of nusinersen followed by maintenance doses every 4 months thereafter.

Prevalence of Rickettsia species phylotype G022 and Rickettsia tillamookensis in Ixodes pacificus nymphs and adults from Northern California.

Ticks are known vectors of various pathogenic bacteria, including species of Rickettsia. Two novel Rickettsia species have been identified in adult Ixodes pacificus: Rickettsia species phylotype G022 in 2011 and R. tillamookensis in 2021.

[Two cases of creatine deficiency syndrome caused by gene mutations and literature review].

Objectives: To summarize the clinical manifestations and genetic characteristics of creatine deficiency syndrome (CDS) caused by gene mutations.

Methods: A retrospective analysis was conducted on the clinical and genetic data of two children diagnosed with GAMT deficiency-type CDS at the Children's Medical Center of Xiangya Hospital, Central South University, from December 2020 to December 2024.

Results: The two patients presented with symptoms in infancy, and both had compound heterozygous mutations in the gene.

Whole Genome Sequencing Reveals Clade-Specific Genetic Variation in Blacklegged Ticks.

Ticks and tick-borne pathogens represent the greatest vector-borne disease threat in the United States. Blacklegged ticks are responsible for most human cases, yet the disease burden is unevenly distributed across the northern and southern United States. Understanding the genetic characteristics influencing phenotypic differences in tick vectors is critical to elucidating disparities in tick-borne pathogen transmission dynamics.

Identification of a novel gene variant in a patient with an intellectual development disorder: a literature review and case report.

belongs to a family of protein lysine methyltransferases that methylate non-histone proteins. Recently, the gene has been reported to be related to an intellectual developmental disorder, autosomal recessive 44. Patients present with developmental delay, intellectual disability (ID), and variable dysmorphic features.

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.

Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.

Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited disorder that causes epilepsy, intellectual disorders, and early onset macrocephaly. MLC1 has been identified as a main pathogenic gene.

Methods: Clinical data such as magnetic resonance imaging (MRI), routine blood tests, and physical examinations were collected from proband.

[Clinical effect of different immunosuppressive treatment regimens in children with ocular myasthenia gravis: a retrospective analysis].

Objectives: To investigate the clinical effect of different immunosuppressive treatment regimens in children with ocular myasthenia gravis (OMG).

Methods: A retrospective analysis was conducted on 130 children with OMG who were treated in the Department of Neurology, Jiangxi Children's Hospital, from February 2018 to February 2023. According to the treatment regimen, they were divided into four groups: glucocorticoid (GC) group (=29), mycophenolate mofetil (MMF) group (GC+MMF; =33), methotrexate (MTX) group (GC+MTX; =30), and tacrolimus (FK506) group (GC+FK506; =38).

Reversible splenial lesion syndrome in children: a retrospective study of 130 cases.

Background: Reversible splenial lesion syndrome (RESLES) is a new clinico-radiological syndrome. We retrospectively analyzed the clinical features of 130 children with RESLES in China, which is the largest case series available in the literature.

Methods: The clinical data of children diagnosed as RESLES in Jiangxi Provincial Children's Hospital between 2017 and 2023 were retrospectively analyzed.

De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.

Purpose: PHF21A has been associated with intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Here, we report a new patient with IDDBCS and review previously reported patients.

Methods: We reviewed the phenotypic and genetic spectrum of the newly diagnosed patient and previously reported patients with IDDBCS.

Both epilepsy and anti-seizure medications affect bone metabolism in children with self-limited epilepsy with centrotemporal spikes.

Objective: Bone metabolism can be influenced by a range of factors. We selected children with self-limited epilepsy with centrotemporal spikes (SeLECTS) and lifestyles similar to those of healthy children to control for the confounding factors that may influence bone metabolism. We aimed to identify the specific effects of epilepsy and/or anti-seizure medications (ASMs) on bone metabolism.

Functional analysis of Rickettsia monacensis strain humboldt folA dihydrofolate reductase gene via complementation assay.

Nutritive symbiosis between bacteria and ticks is observed across a range of ecological contexts; however, little characterization on the molecular components responsible for this symbiosis has been done. Previous studies in our lab demonstrated that Rickettsia monacensis str. Humboldt (strain Humboldt) can synthesize folate de novo via the folate biosynthesis pathway involving folA, folC, folE, folKP, and ptpS genes.

[Prevalence, risk factors and characteristics of delirium in intensive care unit patients: a prospective observational study].

Objective: To investigate the prevalence, risk factors, duration and outcome of delirium in intensive care unit (ICU) patients.

Methods: A prospective observational study was conducted for critically ill patients admitted to the department of critical care medicine, the Affiliated Hospital of Guizhou Medical University from September to November 2021. Delirium assessments were performed twice daily using the Richmond agitation-sedation scale (RASS) and confusion assessment method of ICU (CAM-ICU) for patients who met the inclusions and exclusion criteria.

The PaO/FiO is independently associated with 28-day mortality in patients with sepsis: a retrospective analysis from MIMIC-IV database.

Background: To clarify the relationship between the PaO/FiO and 28-day mortality in patients with sepsis.

Methods: This was a retrospective cohort study regarding MIMIC-IV database. Nineteen thousand two hundred thirty-three patients with sepsis were included in the final analysis.

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.

Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage.

Purpose: The FAT1 gene encodes FAT atypical cadherin 1, which is essential for foetal development, including brain development. This study aimed to investigate the relationship between FAT1 variants and epilepsy.

Methods: Trio-based whole-exome sequencing was performed on a cohort of 313 patients with epilepsy.

Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review.

Background: SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example, early-onset and drug-refractory seizures. We report two children with global developmental delay and epileptic encephalopathy, which are caused by SYNGAP1 gene novel mutations, and drug treatment is effective.

Efficacy and safety of phenobarbital for benign convulsions with mild gastroenteritis: A prospective randomized controlled study.

Background: previous studies have shown that phenobarbital (PB) is a effective and safe drug in the treatment of benign convulsions with mild gastroenteritis (CwG), but there is a lack of large sample prospective randomized controlled study of different doses. This study was a prospective randomized controlled study on the efficacy and safety of different doses of phenobarbital for CwG. There has been no similar study.

Case report: A novel variant of in a child with benign convulsions with mild gastroenteritis.

Benign convulsions with mild gastroenteritis (CwG) is characterized by afebrile convulsions accompanied by mild gastroenteritis, and it can be considered after central nervous system infection, hypoglycemia, electrolyte disturbance, and moderate and severe dehydration are excluded. Previous studies have suggested that genetics may be involved in CWG. Herein, we reported a novel variant of in a child with CwG.

Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease.

Background: Thiamine metabolism dysfunction syndrome 5 (THMD5) is a rare inherited metabolic disorder due to thiamine pyrophosphokinase 1(TPK1) deficiency, caused by mutations in TPK1. The core symptoms of the disease is acute or subacute onset encephalopathy, ataxia, muscle hypotonia, and regression of developmental milestones in early infancy, repeatedly triggered by acute infectious illness. However, we report two brothers of THMD5 with compound heterozygous for the mutations c.