OBJECTIVE: To explore the genetic characteristics of idic(X)(p11.22) in Turner syndrome (TS). METHODS: Two fetuses suspected for sex chromosome abnormalities or ultrasound abnormalities were selected from Chengdu Women's and Children's Central Hospital in October 2020 and June 2020, and amniotic fluid samples were collected for G-banded chromosomal karyotyping analysis, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH). RESULTS: The two fetuses were respectively found to have a karyotype of 45,X[47]/46,X,psu idic(X)(p11.2)[53] and 46,X,psu idic(X)(p11.2). CMA found that both had deletions in the Xp22.33p11.22 region and duplications in the p11.22q28 region. FISH showed that the centromeres in both fetuses had located on an isochromosome. CONCLUSION The combination of karyotyping analysis, FISH, and CMA is useful for the delineation of complex structural chromosomal aberrations. High-resolution CMA can accurately identify chromosomal breakpoints, which can provide a clue for elucidating the mechanism of chromosomal breakage and rearrangement.
Female ; Pregnancy ; Humans ; Turner Syndrome/genetics* ; In Situ Hybridization, Fluorescence ; Sex Chromosome Aberrations ; Centromere ; Prenatal Diagnosis

Objective:This study aimed to evaluate the diagnostic value of serum Golgi protein 73(GP73) alone and GP73 combined with liver stiffness measurement (LSM), aspartate aminotransferase/platelet ratio index (APRI), and 4-factor-based fibrosis index (FIB4) in diagnosing liver fibrosis in patients with chronic liver disease of different etiologies.Methods:A diagnostic test. A total of 68 patients who underwent liver biopsy in the Department of Traditional and Western Medical Hepatology of the Third Hospital of Hebei Medical University from October 2019 to December 2020 were selected to detect serum GP73 levels. iLivTouch was used to assess liver stiffness measurement (LSM). In addition, serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transferase (GGT), total bilirubin (TBil), direct bilirubin (DBil), triglyceride (TG), total cholesterol (TC), low-density lipoprotein (LDL) levels, and peripheral platelet (PLT) counts were assayed. The correlation between GP73 and the above indexes was assessed, and APRI and FIB-4 were calculated. SPSS 21.0 statistical software was used for statistical analysis. The area under the receiver operating characteristic curve was calculated to evaluate diagnostic efficacy of GP73 in identifying hepatic fibrosis stages. Furthermore, the difference between GP73 and liver stiffness, as well as APRI and FIB4 in diagnosing significant fibrosis was assessed.Results:Based on liver biopsy, 13, 18, 17, and 20 cases were diagnosed as stages S0-1, S2, S3, and S4, respectively. The AUC of GP73 diagnosing hepatic fibrosis stage S≥3 and S=4 were 0.806 and 0.844 at cut-off points of 2.06 and 3.27 μg/L, and the sensitivity and specificity were 93.5%, 61.5%, 90.0%, 70.3%, respectively. In addition, GP73 levels were positively correlated with the degree of liver fibrosis ( r=0.547, P<0.001). Conclusions:The efficacy of serum GP73 level in diagnosing the degree of liver fibrosis in patients with chronic liver disease from different causes was significantly higher than that of APRI, FIB4, and LSM. The combination of GP73 and FIB4 can further improve the accuracy of diagnosis of liver fibrosis staging S≥3 and S=4, which is a reliable serological marker for the diagnosis of fibrosis in patients with chronic liver disease.

Nonalcoholic steatohepatitis (NASH) has become the second leading cause of hepatitis and can further progress to liver fibrosis, liver cirrhosis, and even liver cancer; however, the detailed pathogenesis of NASH remains unclear, and there is still a lack of effective therapeutic drugs. MicroRNAs (miRNAs) are a class of non-coding, post-transcriptionally regulated, and highly conserved small RNAs in the body and play an important role in a variety of liver diseases. This article mainly reviews the role of miRNAs in the development and progression of NASH.

The oral cavity harbors a diverse population of microorganisms, making it one of the most heavily colonized sites in the human body. Maintaining a balanced microecology is crucial for oral health. Ligilactobacillus salivarius as a species of Ligilactobacillus, has good oral colonization ability and potential to improve oral microecology for disease prevention and control. Currently, the application and mechanism of Ligilactobacillus salivarius in oral diseases include several aspects. First, by directly inhibiting the growth of Streptococcus mutans and downregulating the expression of its cariogenic virulence factor, gtfs, the aim is to reduce the number of adherent Streptococcus mutans on the tooth surface, thereby preventing dental caries. Second, reducing the number of keystone taxa in periodontitis, and the virulence factors of Aggregatibacter actinomycetemcomitans, including CdtB and LtxA, can alleviate local stimulation in patients with periodontitis. Additionally, directly inhibiting macrophage MAPK and NF-κB pathway activation suppresses osteoclastogenesis and reduces periodontal bone absorption. In mucosal inflammation, Ligilactobacillus salivarius competes with Candida albicans, inhibits the formation of pathogenic hyphae or germ tubes, and prevents monilial stomatitis. Ligilactobacillus salivarius can also reduce the amount of Staphylococcus aureus and mitigate the activation of the macrophage TLR/PI3K/Akt/mTOR and TLR/PI3K/Akt/IκB/NF-κB pathways induced by S. aureus infections, thus alleviating inflammation in the oral and pharyngeal regions. In vitro studies on oral tumors have revealed that Ligilactobacillus salivarius can downregulate the expression of cancer cell Akt/Cyclin D1, induce direct apoptosis of tumor cells, reduce COX-2 expression, and improve the tumor immune-suppressive microenvironment. Previous studies have revealed considerable variability in Ligilactobacillus salivarius, necessitating more detailed research to clarify its clinical effects, safety, and mechanisms. Despite the emergence of novel microbiological research techniques, their application to Ligilactobacillus salivarius remains relatively limited. One crucial direction for future research is to better utilize these methods to investigate the effects of Ligilactobacillus salivarius on oral diseases. Considering these factors, this study provides a comprehensive review of existing research studies on Ligilactobacillus salivarius in the fields of oral medicine and dentistry, with the aim to serve as a reference and guide for future studies.