Screening of differentially expressed genes in children with cerebral palsy and the construction of a network of the effective components of traditional Chinese medicine.

Background: The study sought to construct a network of the effective components of traditional Chinese medicine (TCM) and potential therapeutic target genes of cerebral palsy based on data sets from high-throughput sequencing and the Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP).

Methods: A transcriptome sequencing data set (GSE183021) of blood samples from children with cerebral palsy was downloaded from the Gene Expression Omnibus (GEO) database. The differentially expressed genes (DEGs) between the cerebral palsy blood samples and control blood samples were screened.

Novel SNX13 Frameshift Variant in an Individual with Developmental Delay.

Recently, an increasing number of genes have been associated with global developmental delay (GDD) and intellectual disability (ID). The sorting nexin (SNX) protein family plays multiple roles in protein trafficking and intracellular signaling. SNXs have been reported to be associated with several disorders, including Alzheimer disease and Down syndrome.

Use of the Griffiths mental development scale-Chinese in the assessment of children with autism spectrum disorder and global developmental delay/intellectual disability.

The Griffiths Mental Development Scale-Chinese (GDS-C) is used in China to assess the development of children from birth to 8 years of age. Language disorders are a common symptom of autism spectrum disorder (ASD) and global developmental delay (GDD)/intellectual disability (ID). There is a need to identify distinct clinical characteristics in children suspected of having these 2 disorders, mainly presenting as language disorders.

Association Between MTHFR C677T Polymorphism and Susceptibility to Autism Spectrum Disorders: A Meta-Analysis in Chinese Han Population.

Prior studies have examined the influence of MTHFR C677T on autism susceptibility, however, there are no consensus conclusions and specific analyses of a Chinese population. This meta-analysis included a false-positive report probability (FPRP) test to comprehensively evaluate the association of MTHFR C677T polymorphism with autism susceptibility among a Chinese Han population. A large-scale literature retrieval was conducted using various databases including PubMed, Embase, Wan Fang, and the Chinese National Knowledge Infrastructure (CNKI) up to July 31, 2020, with a total of 2,258 cases and 2,073 controls included.

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.

Introduction: The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47).

Case Presentation: Here we present a Chinese patient with spastic tetraplegia, moderate psychomotor development delay and febrile seizures plus.

[Efficacy of acupuncture for spastic cerebral palsy in infancy stage].

Objective: To explore the therapeutic effect of acupuncture for spastic cerebral palsy in infancy stage.

Methods: A total of 62 children with spastic cerebral palsy were randomized into an observation group and a control group, 31 cases in each one. Both groups were given comprehensive rehabilitation therapy (sport therapy, electronic biofeedback therapy, speech cognitive training, massage therapy).

Efficacy and Toxicity of Addition of Bevacizumab to Chemotherapy in Patients with Metastatic Colorectal Cancer.

Background: Pre-treated patients with first-line treatment can be offered a second treatment with the aim of improving their poor clinical prognosis. The therapy of metastatic colorectal cancer (CRC) patients who did not respond to first-line therapy has limited treatment options. Recently, many studies have paid much attention to the efficacy of bevacizumab as an adjuvant treatment for metastatic colorectal cancer.