Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.

Importance: Aicardi-Goutières syndrome (AGS) is a rare genetic disorder mainly affecting the central nervous system and autoimmunity. However, research on AGS among Chinese patients is limited.

Objective: To summarize the neurologic phenotypes and genetic causes in pediatric AGS patients, providing insights for early recognition and diagnosis in the Chinese population.

Deep brain stimulation for pediatric pantothenate kinase-associated neurodegeneration with status dystonicus: A case report and literature review.

Background: Pantothenate kinase-associated neurodegeneration (PKAN) is a type of inherited metabolic disorder caused by mutation in the PANK2 gene. The metabolic disorder mainly affects the basal ganglia region and eventually manifests as dystonia. For patients of dystonia, their dystonic symptom may progress to life-threatening emergency--status dystonicus.

Analysis of Salt Stress on Soil Microbial Community Composition and Its Correlation with Active Components in the Rhizosphere of Acanthopanax senticosus.

Salt stress can adversely affect plant seed germination, growth and development, and eventually lead to slow growth and even death of plants. The purpose of this study was to investigate the effects of different concentrations of NaCl and NaSO stress on the physicochemical properties, enzyme activities, rhizosphere microbial community and seven active components (L-phenylalanine, Protocatechuic acid, Eleutheroside B, Chlorogenic acid, Caffeic acid, Eleutheroside E, Isofraxidin) of Acanthopanax senticosus rhizosphere soil. Statistical analysis was used to explore the correlation between the rhizosphere ecological factors of Acanthopanax senticosus and its active components.

A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.

Background: Epiphyseal, Vertebral, Ear, and Nose (EVEN)-PLUS syndrome is a rare condition characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose, plus other associated findings, due to pathogenic variants in the HSPA9 gene. Due to the sparse number of patients, the clinical phenotypic spectrum is not clear.

Methods: We report two patients with pathogenic HSPA9 variants from a Chinese family.

[Electroencephalogram characteristics of 26 children with febrile infection-related epilepsy syndrome].

Objectives: To investigate the electroencephalogram (EEG) characteristics and progression of febrile infection-related epilepsy syndrome (FIRES) in children, aiming to enhance diagnosis and treatment approaches.

Methods: A retrospective analysis was conducted on 26 children with FIRES between May 2017 and December 2021.

Results: All 26 children (100%) presented with fever at the onset, followed by frequent convulsions that rapidly progressed into convulsive status.

The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.

Purpose: To evaluate the clinical spectrum associated with ATP1A2 variants in Chinese children with hemiplegia, migraines, encephalopathy or seizures.

Methods: Sixteen children (12 males and 4 females), including ten patients with ATP1A2 variants whose cases had been published previously, were identified using next-generation sequencing.

Results: Fifteen patients had FHM2 (familial hemiplegic migraine type 2), including three who had AHC (alternating hemiplegia of childhood) and one who had drug-resistant focal epilepsy.

Basal nuclei lesions and cholecystitis as initial findings of late infantile metachromatic leukodystrophy.

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disease. MLD can be divided into three clinical forms: late infantile, juvenile, and adult, with late infantile being the most common. Infantile MLD with unusual onset has been reported.

Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report.

Background: Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder with heterogeneous phenotype, including hypotonia, movement disorders, autonomic dysfunction, and developmental delay. Here, we reported a Chinese patient with AADCD who was initially misdiagnosed with epilepsy.

Case Presentation: The proband was a 4-month-old Chinese girl, representing hypotonia, episodes of oculogyric crises with dystonia, and delayed developmental milestones.

Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.

Aim: To explore the clinical and genetic spectrum of hereditary spastic paraplegia (HSP) in Chinese children.

Method: This retrospective study was conducted between January 2014 and October 2021 in children clinically diagnosed with either pure HSP (pHSP) or complex HSP (cHSP).

Results: We investigated 45 children (32 males, 13 females; mean age [SD] at symptom onset 4 years [7 months]).

Functional connectivity differences in speech production networks in Chinese children with Rolandic epilepsy.

Previous studies have demonstrated that language impairments are frequently observed in patients with benign epilepsy with centrotemporal spikes (BECTS). However, how BECTS affects language processing in the Chinese population remains unclear. With the use of functional magnetic resonance imaging (fMRI) in an overt picture-naming task, the present study examined functional connectivity in 27 children with BECTS and 26 healthy controls.

Transcriptomic analysis reveals the mechanism of host growth promotion by endophytic fungus of Rumex gmelinii Turcz.

Rumex gmelinii Turcz. (RGT) is a medicinal plant of the genus Rumex, family Polygonaceae. Our research group isolated an endophytic fungus, Plectosphaerella cucumerina (Strain J-G) from RGT, which could significantly promote host growth when co-cultured with host seedlings.

Novel Loss-of-Function Variants in Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.

Developmental and epileptic encephalopathy-94 (DEE94) is a severe form of epilepsy characterized by a broad spectrum of neurodevelopmental disorders. It is caused by pathogenic CHD2 variants. While only a few pathogenic CHD2 variants have been reported with detailed clinical phenotypes, most of which lack molecular analysis.

Multisource Deep Transfer Learning Based on Balanced Distribution Adaptation.

The current traditional unsupervised transfer learning assumes that the sample is collected from a single domain. From the aspect of practical application, the sample from a single-source domain is often not enough. In most cases, we usually collect labeled data from multiple domains.

Analysis of the mechanism of saponin biotransformation in Dioscoreae nipponicae rhizoma by the endophytic fungus Fusarium sp. C39 using whole-genome sequencing.

Fusarium sp. C39 is an endophytic fungus of Dioscorea nipponica Makino. Symbiosis of Fusarium sp.

Chinese patients with p.Arg756 mutations of : Clinical manifestations, treatment, and follow-up.

Importance: The phenotypes of gene mutations are diverse. Relapsing encephalopathy with cerebellar ataxia and fever-induced paroxysmal weakness and encephalopathy (FIPWE) are considered non-classical phenotypes caused by p.Arg756 mutations of .

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.

Background: The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations.

Methods: We retrospectively analyzed the clinical information and genetic testing results of a Rahman syndrome family in an outpatient clinic in August 2020 and summarized the clinical characteristics of the HIST1H1E gene mutations in conjunction with peer-reviewed reports.

Results: A 4-year-old boy was diagnosed with severe developmental delay and with specific features (large head, full cheeks, high hairline, low-set ear, sparse eyebrows, and short neck) similar to his mother (mild intellectual disability, high hairline, reduced hair, ptosis, sagging skin, and hyperkeratosis) and premature aging.

Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.

Objective: Leigh syndrome (LS) is a heterogeneous neurodegenerative disease and the most frequent pediatric manifestation of mitochondrial disease. In the largest patient collection to date, this study aimed to provide new insights into the clinical and genetic spectrum of LS, defect-specific associations, and predictors of disease course and survival.

Methods: Clinical, metabolic, neuroimaging, onset, and survival data were collected from the medical records of 209 patients referred to the Beijing Children's Hospital with symmetrical basal ganglia and/or brainstem neuroimaging changes indicative of LS by 30 centers from the Chinese network of mitochondrial disease (mitoC-NET) between January 2013 and July 2021 for exploratory analysis.

Phenotypes and genotypes of mitochondrial diseases with mtDNA variations in Chinese children: A multi-center study.

Mitochondrial DNA (mtDNA) associated mitochondrial diseases hold a crucial position but comprehensive and systematic studies are relatively rare. Among the 262 patients of four children's hospitals in China, 96%-point mutations (30 alleles in 11 genes encoding tRNA, rRNA, Complex I and V) and 4%-deletions (seven of ten had not been reported before) were identified as the cause of 14 phenotypes. MILS presented the highest genetic heterogeneity, while the m.

Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.

Alpers' syndrome is an early inceptive neurodegenerative disorder with a poor prognosis, characterized by developmental regression, intractable epilepsy, and hepatic dysfunction. Candidate genes, such as are distinguished and registered following research on large cohorts that portray the clinical phenotype in such patients using expanded access to whole-exome sequencing (WES). In this study, we aimed to better understand the electroencephalogram (EEG) characteristics and clinical phenotype of different genotypes of the Alpers' syndrome, which are currently insufficiently studied.

Age-dependent characteristics and prognostic factors of pediatric anti-N-methyl-d-aspartate receptor encephalitis in a Chinese single-center study.

Objective: To describe the clinical features and prognosis of pediatric anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis from a single center in northern China.

Methods: The clinical and laboratory characteristics of hospitalized patients with anti-NMDAR encephalitis, stratified by age, were retrospectively studied. Risk factors including relapse and long-term (follow-up ≥1 year) outcomes were analyzed.

Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.

Aim: To explore the genotypes and phenotypes of CACNA1A variants in children with epilepsy.

Method: Eighteen children (six males, 12 females) with CACNA1A variants were identified using next-generation sequencing.

Results: There were 14 missense variants, two nonsense variants, one frameshift variant, and one splice site variant.