A pediatric case of anti-GABAR encephalitis: case report and literature review.

Background And Objective: This study aims to analyze the clinical characteristics of anti-GABAR encephalitis in pediatric patients. Due to its rarity and diagnostic challenges in children, we compare clinical features between adult and pediatric cases.

Materials And Methods: Using the key words "anti-GABAR encephalitis, children, autoimmune encephalitis, limbic encephalitis", we conduct a comprehensive literature review of all studies related to anti-GABAR encephalitis published from January 2010 to January 2024.

Diagnostic Value of Cerebrospinal Fluid Metagenomics Next-generation Sequencing in Neurobrucellosis in Children.

Objective: To explore the clinical characteristics of neurobrucellosis in children and the diagnostic value of metagenomics next-generation sequencing (mNGS) of cerebrospinal fluid and traditional microbial detection methods.

Methods: Three patients in the pediatrics department from April 2022 to October 2023 were diagnosed with brucellosis, and 5 mL of cerebrospinal fluid was taken and sent for routine biochemical, bacterial Gram-stained smear, antacid-stained smear, ink staining, bacterial culture and second-generation sequencing of the microgeneration of the cerebrospinal fluid, respectively (Beijing AJiAn Genetics Medical Laboratory). Cranial magnetic resonance imaging, blood culture and blood Brucella antibody test were also performed to summarize the clinical features and pathogenic analysis.

A Mutation in the ANK2 Gene Causing ASD and a Review of the Literature.

Objective: To investigate the clinical and genetic characteristics of patients with ANK2(HGNC:493)-associated autism spectrum disorders (ASDs) and epilepsy (EP).

Methods: We identified a novel ANK2 variant in a patient with ASD and EP and summarized the clinical and genetic characteristics of ANK2 gene variants in this patient and those in previous reports.

Results: A novel nonsense variant, ANK2 (NM_001148.

Numerical study on the uniform distribution of flow field of airflow dryer.

The uniformity of hot air flow inside the airflow dryer not only affects the moisture distribution at the outlet, but also affects the quality of the product. Based on the guide plate structure of the SH23A airflow tobacco dryer, a gradient curved guide plate dryer is designed, and the flow field distribution of the dryer is numerically investigated under different flow distribution conditions at the hot air inlet and flue gas inlet. The results show that the airflow uniformity is affected by the flow distribution at the inlet of the heated air and the inlet of the cigarette smoke, the structure of the guide plate, etc.

Dynamic monitoring and anomaly tracing of the quality in tobacco strip processing based on improved canonical variable analysis and transfer entropy.

Multivariate statistical monitoring methods are proven to be effective for the dynamic tobacco strip manufacturing process. However, the traditional methods are not sensitive enough to small faults and the practical tobacco processing monitoring requires further root cause of quality issues. In this regard, this study proposed a unified framework of detection-identification-tracing.

Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene.

Unlabelled: The objective of this study is to analyze the role of dehydrodolichyl diphosphate synthase (DHDDS), a crucial enzyme in the mevalonate pathway, and its encoded mutations in the onset of developmental delay and seizures, with or without movement abnormalities. Its genotype-phenotype characteristics are still inconclusive. We analyzed the clinical characteristics of epilepsy, and neurodevelopmental and motor disorders related to DHDDS gene mutations and report the genotype-phenotype characteristics of a child with epilepsy caused by DHDDS gene mutation, providing a summary and a statistical analysis of epilepsy cases associated with DHDDS gene mutation up until February 2022.

Adaptive parameter estimation for the expanded sandwich model.

An expanded-sandwich system is a nonlinear extended block-oriented system in which memoryless elements in conventional block-oriented systems are displaced by memory submodels. Expanded-sandwich system identification has received extensive attention in recent years due to the powerful ability of these systems to describe actual industrial systems. This study proposes a novel recursive identification algorithm for an expanded-sandwich system, in which an estimator is developed on the basis of parameter identification error data rather than the traditional prediction error output information.

Mechanical Stretch Promotes Macrophage Polarization and Inflammation via the RhoA-ROCK/NF-B Pathway.

Macrophages play an essential role in the pathogenesis of most inflammatory diseases. Recent studies have shown that mechanical load can influence macrophage function, leading to excessive and uncontrolled inflammation and even systemic damage, including cardiovascular disease and knee osteoarthritis. However, the molecular mechanism remains unclear.

[Effect of silk fibroin microcarrier loaded with clematis total saponins and chondrocytes on promoting rabbit knee articular cartilage defects repair].

Objective: To prepare the silk fibroin microcarrier loaded with clematis total saponins (CTS) (CTS-silk fibroin microcarrier), and to investigate the effect of microcarrier combined with chondrocytes on promoting rabbit knee articular cartilage defects repair.

Methods: CTS-silk fibroin microcarrier was prepared by high voltage electrostatic combined with freeze drying method using the mixture of 5% silk fibroin solution, 10 mg/mL CTS solution, and glycerin. The samples were characterized by scanning electron microscope and the cumulative release amount of CTS was detected.

A new method for primary culture of microglia in rats with spinal cord injury.

At present, the primary culture method of microglia is complicated, and the culture of spinal cord microglia is rare, so we will explore to establish a new and efficient primary culture method of microglia in rats with spinal cord injury (SCI). The SCI model of SD rats was established by modified A11en's method, and the model of SCI was performed on 1 d, 3 d, 7 d and 14 d respectively. Then the injured spinal cord was removed, mechanically separated and filtered.

Cartilage Repair Using Clematis Triterpenoid Saponin Delivery Microcarrier, Cultured in a Microgravity Bioreactor Prior to Application in Rabbit Model.

Cartilage tissue engineering provides a promising method for the repair of articular cartilage defects, requiring appropriate biological scaffolds and necessary growth factors to enhance the efficiency of cartilage regeneration. Here, a silk fibroin (SF) microcarrier and a clematis triterpenoid saponin delivery SF (CTS-SF) microcarrier were prepared by the high-voltage electrostatic differentiation and lyophilization method, and chondrocytes were carried under the simulated microgravity condition by a rotating cell culture system. SF and CTS-SF microspheres were relatively uniform in size and had a porous structure with good swelling and cytocompatibility.

RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Objective: Gene mutation analysis was performed on a family with familial hemophagocytic lymphohistiocytosis (FHL) so as to provide an accurate etiological diagnosis, leading to genetic counseling for the family members.

Methods: The clinical data of two probands (siblings) with FHL in one family were analyzed, and eight genes related to the onset of the primary hemophagocytic lymphohistiocytosis (pHLH) () were detected and analyzed in the probands and their parents with whole exome sequencing.

Results: Proband 1 was a two-year-old male with the clinical manifestations of fever, hepatosplenomegaly, and a decreased peripheral blood cell count, sCD25: 12504pg/mL.

Current status and development trend of miRNAs in osteoporosis-related research: A bibliometric analysis.

Introduction: The occurrence of osteoporosis (OP) has drawn considerable attention from scholars around the world due to the significant impacts thereof on the social economy and the quality of human life. OP research has been rapidly expanding since the inclusion of microRNAs (miRNAs) as critical regulators of gene-expression. However, despite the ability to evaluate miRNA gene therapy in OP being enhanced, there has been a scarcity of updated citation analyses that reflect such developments.

A case of 15q11-q13 duplication syndrome and literature review.

Background: The chromosomal 15q11-q13 regions are structurally complex, and their abnormalities are associated with various neuropsychiatric disorders, including autism spectrum disorder (ASD), epilepsy, Angelman syndrome, and Prader-Willi syndrome.

Case Description: A 6-year-old child was admitted to the hospital as a result of an "epileptic status" showing ASD, intractable epilepsy, and total developmental retardation. Chromosome gene detection showed repetitive variation in the 15q11-q13 regions, and the video electroencephalogram was abnormal.

Case Report: A Case Report and Literature Review of 3p Deletion Syndrome.

The aim of the present study is to explore the clinical and genetic characteristics of 3p deletion syndrome to improve clinicians' understanding of the disease. The clinical manifestations, process of diagnosis and treatment, and genetic characteristics of an individual case of 3p deletion syndrome were analyzed. CNKI, Wanfang Data, and the Biomedical Literature Database (PubMed) were searched.

Icariin promotes the repair of PC12 cells by inhibiting endoplasmic reticulum stress.

Background: Endoplasmic reticulum stress (ERS) is one of the main mechanisms of spinal cord injury (SCI) pathology and can affect the physiological state of neurons. Icariin (ICA), the main pharmacological component of Epimedium, can relieve the symptoms of patients with SCI and has obvious protective effects on neurons through ERS.

Methods: PC12 cells were induced to differentiate into neurons by nerve growth factor and identified by flow cytometry.

[Research progress of different mechanical stimulation regulating chondrocytes metabolism].

As a kind of mechanical effector cells, chondrocytes can produce a variety of physical and chemical signals under the stimulation of multiaxial load , which affect their own growth, development and apoptosis. Therefore, simulating the mechanical environment has become a research hotspot in the culture of chondrocytes . Although a large number of reports have fully proved that different mechanical stimulation can regulate the metabolism of chondrocytes, the loading scheme has not been agreed.

Jisuikang Promotes the Repair of Spinal Cord Injury in Rats by Regulating NgR/RhoA/ROCK Signal Pathway.

Jisuikang (JSK) is an herbal formula composed of many kinds of traditional Chinese medicine, which has been proved to be effective in promoting the rehabilitation of patients with spinal cord injury (SCI) after more than ten years of clinical application. However, the mechanisms of JSK promoting nerve regeneration are yet to be clarified. The aim of this study was to investigate the effects of JSK protecting neurons, specifically the regulation of NgR/RhoA/ROCK signal pathway.

[Blepharoptosis and dysarthria in a boy aged 2 years].

A boy, aged 2 years and 4 months, had a sudden onset of blepharoptosis of the right eyelid, accompanied by the mouth deviated to the right side, drinking cough, nystagmus, and developmental regression. Cranial MRI showed softening lesions formed after infarction of the right dorsolateral medulla oblongata, while head CT angiography showed no imaging of the proximal part of the V4 segment of the right vertebral artery. The child was diagnosed with dorsolateral medulla oblongata syndrome and was treated with gamma globulin to regulate immune function, with mannitol to reduce neuronal edema, with low-molecular-weight heparin sodium to improve local hypercoagulation of occluded blood vessels, with hyperbaric oxygen to improve local ischemia and hypoxia and promote the recovery of brain function, and with neuromuscular electrical stimulation to promote the recovery of neuromuscular function.

A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.

Rationale: The aim of this study was to analyze the clinical and imaging features of a pediatric patient with mucopolysaccharidosis type IIIA (MPS IIIA) and a novel mutation of the N-sulfoglucosamine sulfohydrolase (SGSH) in 1 pedigree.

Patient Concerns: An 8-year-old female patient presented with developmental regression, seizures, cerebral atrophy, thickened calvarial diploe, apathy, esotropia, slender build, thick hair, prominent eyebrows, hepatomegaly, ankle clonus, muscle and joint contractures, and funnel chest.

Diagnoses: The patient was diagnosed as autosomal recessive (AR) MPS IIIA with a novel mutation in the SGSH gene.

Chloroquine inhibits autophagy and deteriorates the mitochondrial dysfunction and apoptosis in hypoxic rat neurons.

Aims: Mitochondrial dysfunction (MD) and apoptosis in the neurons are associated with neonatal hypoxic-ischemic (HI) encephalopathy (HIE). The present study was to explore the influence of autophagy on the induction of MD and apoptosis in the neurons in a neonatal HIE rats and in hypoxia-treated neurons in vitro.

Materials And Methods: Ten-day-old HI rat pups were sacrificed for brain pathological examination and immunohistochemical analysis.

Acylated ghrelin protects hippocampal neurons in pilocarpine-induced seizures of immature rats by inhibiting cell apoptosis.

Ghrelin has two major molecular forms, acylated ghrelin (AG) and unacylated ghrelin (UAG). Only AG to bind growth hormone secretagogue receptor 1a (GHSR-1a) has central endocrine activities. An antiapoptotic effect of AG in cortical neuronal cells has recently been reported.