Heterozygous mutation of CHD7 gene causes a severe developmental disorder called CHARGE syndrome. In order to further explore the expression and function of Chd7 in vivo, we generated a Chd7-P2A-iCreERT2-P2A-tdTomato (in short, Chd7-CT-tdT) knockin mouse line using the CRISPR/Cas9 technology. The specificity and efficiency of two knockin genetic elements were validated.
View Article and Find Full Text PDFMethyl CpG binding protein 2 (MeCP2) is a DNA methylation reader protein. Mutations in are the major cause of Rett syndrome (RTT). Increasing evidence has shown that dysregulated immunity and chronic subclinical inflammation are linked to MeCP2 deficiency and contribute to RTT development and deterioration.
View Article and Find Full Text PDFBackground: Mutations in the gene, which encodes a deubiquitinating isopeptidase called STAM-binding protein, are related to global developmental delay, microcephaly, and capillary malformation. Owing to the limited number of reported cases, the functional and phenotypic characteristics of variants require further elucidation.
Materials And Methods: Whole exome sequencing was performed on a patient presenting with a neurodevelopmental disorder.
Background: Chromodomain helicase DNA-binding protein 7 (CHD7), which is associated with CHARGE (Coloboma, Heart defect, Atresia choanae, Restricted growth, Genital hypoplasia and Ear abnormality) syndrome is an important regulator in many vital developmental processes. However, its role during oocyte development remains unknown.
Methods: We screened the Gene Expression Omnibus (GEO) database for expression levels of CHD7 during folliculogenesis.
BACKGROUND In cervical disc degeneration, cervical disc height (CDH) and cervical disc angle (CDA)have a certain but unidentified relationship with cervical lordosis (CL). This study aimed to reveal the relationship among CDH, CDA, and CL in patients diagnosed with cervical spondylotic myelopathy (CSM). MATERIAL AND METHODS A retrospective analysis was conducted using the data of 212 CSM patients (136 males and 76 females).
View Article and Find Full Text PDFPainful neuropathy, as a severe side effect of chemotherapeutic bortezomib, is the most common reason for treatment discontinuation. However, the mechanism by which administration of bortezomib leads to painful neuropathy remains unclear. In the present study, we found that application of bortezomib significantly increased the expression of NOD-like receptor family pyrin domain containing 3 (NLRP3) and phosphorylated signal transducer and activator of transcription-3 (STAT3) in dorsal root ganglion (DRG).
View Article and Find Full Text PDFBackground: Cervical sagittal alignment plays an important role in the pathogenesis of cervical spondylotic myelopathy (CSM), but there are limited studies on the cervical sagittal parameters in CSM patients and their correlations with myelopathy. The aim of this study is to investigate the correlations among the preoperative cervical sagittal alignment parameters and their correlations with the development of myelopathy in patients with CSM.
Methods: We retrospectively collected 212 patients with CSM who underwent surgical interventions.
Antitubulin chemotherapeutics agents, such as paclitaxel, are effective chemotherapy drugs for cancer treatment. However, painful neuropathy is a major adverse effect limiting the wider application of chemotherapeutics. In this study, we found that A-kinase anchor protein 150 (AKAP150) was significantly upregulated after paclitaxel injection.
View Article and Find Full Text PDFBackground: Clinically, chronic low back pain and sciatica associated with lumbar disc herniation (LDH) is a common musculoskeletal disorder. Due to the unawareness of detailed mechanisms, it is difficult to get an effective therapy.
Objective: The aim of the present study was to identify the role of the RAGE/STAT3 pathway in the dorsal root ganglion (DRG) on the formation and development of persistent pain hypersensitivity induced by LDH.
Unlabelled: Antimicrotubulin chemotherapeutic agents such as vincristine (VCR), often induce peripheral neuropathic pain. It is usually permanent and seriously harmful to cancer patients' quality of life and can result in the hampering of clinical treatments. Currently, there is no definitive therapy, and many of the drugs approved for the treatment of other neuropathic pain have shown little or no analgesic effect.
View Article and Find Full Text PDFLumbar disk herniation (LDH) with discogenic low back pain and sciatica is a common and complicated musculoskeletal disorder. The underlying mechanisms are poorly understood, and there are no effective therapies for LDH-induced pain. In the present study, we found that the patients who suffered from LDH-induced pain had elevated plasma methylglyoxal (MG) levels.
View Article and Find Full Text PDFInt Arch Occup Environ Health
October 2017
Background: Chronic computer-related neck pain is common among office workers. Studies have proposed neck strengthening exercise as a therapy to pain relieving and function improvement. The aim of this study was to compare the efficacy of different loading resistance trainings and we hypothesized that women with work-related neck pain could benefit more from progressive resistance training for pain and function recovery.
View Article and Find Full Text PDF