OBJECTIVE: To analyze the clinical significance of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province. METHODS: Results of audiological examinations, including transient evoked otoacoustic emission and automatic discriminative auditory brainstem evoked potentials, for 6 723 newborns born in Yuncheng area from January 1, 2021 to December 31, 2021, were retrospectively analyzed. Those who failed one of the tests were considered to have failed the examination. A deafness-related gene testing kit was used to detect 15 hot spot variants of common deafness-associated genes in China including GJB2, SLC26A4, GJB3, and mtDNA12S rRNA. Neonates who had passed the audiological examinations and those who had not were compared using a chi-square test. RESULTS: Among the 6 723 neonates, 363 (5.40%) were found to carry variants. These have included 166 cases (2.47%) with GJB2 gene variants, 136 cases (2.03%) with SLC26A4 gene variants, 26 cases (0.39%) with mitochondrial 12S rRNA gene variants, and 33 cases (0.49%) with GJB3 gene variants. Among the 6 723 neonates, 267 had failed initial hearing screening, among which 244 had accepted a re-examination, for which 14 cases (5.73%) had failed again. This has yielded an approximate prevalence of hearing disorder of 0.21% (14/6 723). Among 230 newborns who had passed the re-examination, 10 (4.34%) were found to have carried a variant. By contrast, 4 out of the 14 neonates (28.57%) who had failed the re-examination had carried a variant, and there was a significant difference between the two groups (P < 0.05). CONCLUSION Genetic screening can provide an effective supplement to newborn hearing screening, and the combined screening can provide a best model for the prevention of hearing loss, which can enable early detection of deafness risks, targeted prevention measures, and genetic counseling to provide accurate prognosis for the newborns.
Infant, Newborn ; Humans ; Connexins/genetics* ; Retrospective Studies ; Deafness/genetics* ; Connexin 26/genetics* ; Neonatal Screening/methods* ; Mutation ; Genetic Testing/methods* ; China/epidemiology* ; Hearing ; DNA Mutational Analysis

With the development and application of microarray and high-throughput sequencing technology, it is possible to genomi-cally scan breast cancer associated CNV and SNPs. Multiple researches showed that the frequent aberrance of 8q24 was associated with breast cancer. Oncogenes such as MYC, PSCA and breast cancer associated loci are located in 8q24, and frequent amplification of 8q24 was proposed to be related with breast cancer development and prognosis. This review summarizes the association of the 8q24 amplification and SNPs with breast cancer by correlated genes on this locus.

Objective: To investigate the prognosis of patients who receive neoadjuvant chemotherapy (NAC) for invasive micropapillary carcinoma (IMPC) of the breast using a propensity score matching (PSM) method and to analyze the effects of NAC. Methods: Clinical and pathological data of a total of 251 cases of IMPC of the breast were collected for this study, from January 2011 to March 2014 in Tianjin Medical University Cancer Institute and Hospital, of which the NAC group comprised 67 cases and the non-NAC group comprised 184 cases. Tumor sizes before and after NAC were compared in the NAC group. Prognostic differences were compared between the NAC group and non-NAC group before and after PSM balancing the baseline. Results: The mean value of the maximum dimensions significantly reduced from 5.0cm to 4.2cm in the NAC group after NAC (P=0.035), but there was no statistically significant difference in T stage changes (P=0.064). A total of 49 pairs of patients were matched after PSM, and differences in the baseline data of the paired group were not significant. Univariate survival analysis showed no significant difference in the recurrence-free survival (RFS) rate between the NAC group (77.6% vs. 89.2%) and non-NAC group (72.1% vs. 91.0%) before and after PSM (all P>0.05). The 5-year distant metastasis-free survival (DMFS) rates in the NAC group before and after PSM were 53.4% and 50.0%, respectively, which were both significantly lower than those in the non-NAC group 69.1%, 59.2% (all P<0.05), and multivariate survival analysis showed that undergoing NAC was an independent prognostic factor of DMFS after PSM. Conclusion: Breast IMPC is a special type of tumor that is not sensitive to chemotherapy. Although some tumors decrease after NAC, IMPC patients do not benefit from NAC in terms of RFS; NAC may even increase the risk of distant metastasis. Therefore, IMPC patients should undergo surgical treatment as soon as possible, and NAC is not recommended.

Owing to the increasing incidence and prevalence of inflammatory bowel disease (IBD) worldwide, effective and safe treatments for IBD are urgently needed. Hydrogen sulfide (H₂S) is an endogenous gasotransmitter and plays an important role in inflammation. To date, H₂S-releasing agents are viewed as potential anti-inflammatory drugs. The slow-releasing H₂S donor 5-(4-hydroxyphenyl)-3H-1,2-dithiole-3-thione (ADT-OH), known as a potent therapeutic with chemopreventive and cytoprotective properties, has received attention recently. Here, we reported its anti-inflammatory effects on dextran sodium sulfate (DSS)-induced acute (7 days) and chronic (30 days) colitis. We found that ADT-OH effectively reduced the DSS-colitis clinical score and reversed the inflammation-induced shortening of colon length. Moreover, ADT-OH reduced intestinal inflammation by suppressing the nuclear factor kappa-B pathway. In vivo and in vitro results showed that ADT-OH decreased intestinal permeability by increasing the expression of zonula occludens-1 and occludin and blocking increases in myosin II regulatory light chain phosphorylation and epithelial myosin light chain kinase protein expression levels. In addition, ADT-OH restored intestinal microbiota dysbiosis characterized by the significantly increased abundance of Muribaculaceae and Alistipes and markedly decreased abundance of Helicobacter, Mucispirillum, Parasutterella, and Desulfovibrio. Transplanting ADT-OH-modulated microbiota can alleviate DSS-induced colitis and negatively regulate the expression of local and systemic proinflammatory cytokines. Collectively, ADT-OH is safe without any short-term (5 days) or long-term (30 days) toxicological adverse effects and can be used as an alternative therapeutic agent for IBD treatment.
Humans ; Mice ; Animals ; Gastrointestinal Microbiome ; Intestinal Barrier Function ; Mice, Inbred C57BL ; Colitis/metabolism* ; Inflammatory Bowel Diseases/drug therapy* ; Inflammation ; Anti-Inflammatory Agents/pharmacology* ; Disease Models, Animal

This study was designed to evaluate ERK5 expression in lung cancer and malignant melanoma progression and to ascertain the involvement of ERK5 signaling in lung cancer and melanoma. We show that ERK5 expression is abundant in human lung cancer samples, and elevated ERK5 expression in lung cancer was linked to the acquisition of increased metastatic and invasive potential. Importantly, we observed a significant correlation between ERK5 activity and FAK expression and its phosphorylation at the Ser
A549 Cells ; Animals ; Cell Movement ; Epithelial-Mesenchymal Transition/genetics* ; Focal Adhesion Kinase 1/metabolism* ; Humans ; Lung Neoplasms/pathology* ; MAP Kinase Signaling System ; Mice ; Mitogen-Activated Protein Kinase 7/metabolism* ; Neoplasm Invasiveness ; Neoplasm Metastasis ; Neoplasm Proteins/metabolism*