Neurological Sciences - The NOTCH2NLC gene 5′ untranslated region (UTR) GGC repeat expansion mutations were identified as a genetic contributor of neuronal intranuclear inclusion disease... 相似文献
Inflammation - Acute cerebral infarction (ACI) possesses high mortality. Exosomes present in serum have potential application value in ACI diagnosis. This study investigated the mechanism of serum... 相似文献
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP‐activating protein, cause nonsyndromic intellectual disability (NSID). All disease‐causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID. Here, we report the identification of the first pathogenic missense mutations (c.1084T>C [p.W362R], c.1685C>T [p.P562L]) and three novel truncating mutations (c.283dupC [p.H95PfsX5], c.2212_2213del [p.S738X], and (c.2184del [p.N729TfsX31]) in SYNGAP1 in patients with NSID. A subset of these patients also showed ataxia, autism, and a specific form of generalized epilepsy that can be refractory to treatment. All of these mutations occurred de novo, except c.283dupC, which was inherited from a father who is a mosaic. Biolistic transfection of wild‐type SYNGAP1 in pyramidal cells from cortical organotypic cultures significantly reduced activity‐dependent phosphorylated extracellular signal‐regulated kinase (pERK) levels. In contrast, constructs expressing p.W362R, p.P562L, or the previously described p.R579X had no significant effect on pERK levels. These experiments suggest that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function. Moreover, our study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption. 相似文献
This study was aimed to delineate the prevalence, clinical, and 3-dimentional radiographic characteristics of adult supernumerary teeth (ST found) in a Chinese non-syndromic, dental population.
Materials and methods
Medical records and cone beam computed tomography (CBCT) images were utilized to identify adult patients with ST in a tertiary referral dental hospital between June 2012 and December 2018. CBCT scan coupled with 3-dimentional reconstruction was used to characterize the detailed location, morphology, orientation of ST, and their relationship with adjacent teeth and neighboring structures. All relevant information regarding age and gender of patients, morphology, and 3-dimentional topography of ST as well as ST-associated complications were recorded and statistically analyzed.
Results
A total number of 1149 ST was identified in 921 eligible patients screened from 60,104 subjects with the prevalence of 1.5%. Male patients outnumbered females with a gender ratio of 1.76:1. The majority of ST was single, located in the maxilla, especially the maxillary central incisor region. Most ST were conical shape, inverted orientation, and impacted. ST-associated complications including impaction or root resorption of adjacent teeth, and cystic/tumor-like lesions were totally found in 13% ST and significantly associated with location, orientation, and morphology of ST.
Conclusions
Most ST in Chinese adults were conical, inverted, impacted, and located in the maxillary central incisor region, and associated with various complications. Our findings offer valuable information concerning the prevalence, clinical, and radiographic characteristics of ST in non-syndromic Chinese adults.
Clinical relevance
These findings are beneficial for clinicians to comprehensively understand the incidence, pathogenesis, and clinical management of ST.
