Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family.

Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP) synthesis due to dynamic mutation expansion of the CGG triplet repeat in the 5'UTR and abnormal methylation of the (fragile X messenger ribonucleoprotein 1) gene [OMIM 309550]. Less than 5% of cases are caused by abnormal function of the FMRP due to point mutations or deletions in the gene.

Investigating the impact of vulnerability datasets on deep learning-based vulnerability detectors.

Software vulnerabilities have led to system attacks and data leakage incidents, and software vulnerabilities have gradually attracted attention. Vulnerability detection had become an important research direction. In recent years, Deep Learning (DL)-based methods had been applied to vulnerability detection.

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.

Background: Harlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. has been identified as the major disease-causing gene of HI.

Methods: A case of HI was prenatally diagnosed by ultrasonography and genetic tests.

[Emission Inventory and Emission Factors of Volatile Organic Compounds (VOCs) from Architectural Adhesives].

Architectural decoration is an important anthropogenic emission source of VOCs in China, and there are few studies on the emission of VOCs from architectural adhesives. In this study, the VOCs content level and emission factors of various architectural adhesives were measured and then, a VOC emission inventory of architectural adhesives in China from 2013 to 2017 was established by a top-down emission factor method. Results showed that the comprehensive VOCs emission factor of architectural adhesives was 97.

[Raw Materials and End Treatment-based Emission Factors for Volatile Organic Compounds (VOCs) from Typical Solvent Use Sources].

A database of refined raw materials and end treatment-based VOCs emission factors for typical solvent use sources was developed for the Pearl River Delta. For this, the impact of composition and the content of raw materials, production process, and comprehensive end treatment on the emission of VOCs was analyzed. The solvent use sources included printing, furniture manufacturing, and electronic component and equipment manufacturing.

Paternal Low-Level Mosaicism-Caused -Associated Syndrome.

Mutations of (OMIM#608148) gene at 2q33.1 have been associated with the autosomal dominant -associated syndrome (SAS), which is still short of comprehensive diagnosis technologies for small deletions and low-level mosaicism. In this Chinese Han family, single nucleotide polymorphism array identified a 4.

[Phenotypic and genetic analysis of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion].

Objective: To analyze the genotype and phenotype of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion.

Methods: Both children have featured mental retardation and development delay, and were subjected to karyotyping, single nucleotide microarray (SNP array) and real-time fluorescence quantitative PCR analysis.

[Application of BACs-on-Beads and karyotyping for the prenatal diagnosis of 1371 pregnant women with a high risk].

Objective: To assess the value of combined BACs-on-Beads (BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy.

Methods: For 1371 women with singleton pregnancy and various indications for prenatal diagnosis, karyotyping and BoBs were simultaneously applied on their amnionic fluid samples.

Results: In total 23 cases of trisomy 21, 11 cases of trisomy 18, 5 cases of sex chromosome aneuploidies, 6 cases of microdeletions/microduplications, 2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay, among which the 6 microdeletions/microduplications were not detected by karyotyping.

Risk factors and management of gestational diabetes.

Gestational diabetes mellitus (GDM) is considered to be a typical condition of glucose intolerance in which a woman previously undiagnosed with diabetes exhibits high levels of blood glucose during the third trimester of pregnancy. It can hence be defined as any degree of intolerance to glucose with its first recognition only during the pregnancy. Approximately 7 % of all cases of pregnancy are found to be variedly complicated with GDM and this result in more than 200,000 cases annually.