Objective This study aims to investigate the mutation spectrum and frequency of GJB2 , mtDNA12SrRNA,and SLC26A4 genes in Hui people,Tibetan,Tu nationality,and Mongolian patients with non-syndromic hearing loss in Qinghai province.Methods Peripheral blood samples were obtained from a total of 211 minority patients with nonsyndromic hearing loss in Qinghai province to extract genomic DNA.Three genes of GJB2,mitochondrialDNA12SrRNA,and SLC26A4 were screened for mutations in our study cohort using SNPscan technology.Results Among these 211 patients,5 Tu patients and 1 Mongolian patient were found to carry the ho-moplasmic mtDNAA1555G mutation.The GJB2 mutations detection rates were 11.38%,4.55%,5.88%,and 10%in Hui people,Tibetan,Tu nationality,and Mongolian patients,respectively.No statistically significant differences in the GJB2 mutations detection rates were found among all four ethnicities (P>0.05).c.235delC was the most prevalent mutation in both Tu patients and Mongolian patients.The allele frequency was 2.94% and 5%,respec-tively.While for Hui patients,c.299 300delAT was the most prevalent mutation with the allele frequency of 4.47%.The mutations detection rates of SLC26A4 were 6.5%,4.55%and 2.94%in Hui people,Tibetan,and Tu nationality patients,respectively.No statistically significant differences in the SLC26A4 mutations detection rates were found among all three ethnicities (P>0.05).c.235delC was the most prevalent mutation in Hui patients,the allele frequency was 2.44%.While for Tibetan patients,c.1226G>A was the most prevalent mutation with allele frequency of 2.27%.Conclusion A total of 10.9% of deaf patients have inherited hearing impairment caused by GJB2,SLC26A4,and mtDNAA1555G mutations.The mutation spectrum of GJB2 and SLC26A4 genes has the eth-nic specificity in nonsyndromic hearing loss patients of minority ethnicities in Qinghai province.

OBJECTIVE: To explore the possible mechanism of Huoxue Qianyang Formula (HXQYF), a compound traditional Chinese herbal medicine, in reversing the left ventricular hypertrophy (LVH) of spontaneous hypertensive rats (SHRs) by analyzing the expressions of mRNAs and proteins of proto-oncogenes c-fos and c-myc in left ventricular muscle. METHODS: The experimental study was carried out in SHRs, the sex- and age-matched Wistar-Kyoto (WKY) rats were served as normal control (n=5, normal saline 10 ml/kg daily). Twenty-five SHRs were randomly divided into five groups: untreated group (n=5, normal saline 10 ml/kg daily), high-dose HXQYF-treated group (n=5, 0.84 g/ml HXQYF, 10 ml/kg daily), medium-dose HXQYF-treated group (n=5, 0.42 g/ml HXQYF, 10 ml/kg daily), low-dose HXQYF-treated group (n=5, 0.21 g/ml HXQYF, 10 ml/kg daily) and cilazapril-treated group (n=5, 1 mg/ml cilazapril, 10 ml/kg daily). The drugs were intragastrically administered once daily for 14 weeks. The expressions of mRNAs and proteins of proto-oncogenes c-fos and c-myc in left ventricular muscle were detected separately by in situ hybridization histochemical method and immunohistochemical method. RESULTS: Compared with the normal control group, the expressions of mRNAs and proteins of proto-oncogenes c-fos and c-myc in left ventricular muscle were significantly increased in untreated group (P<0.01). After treatment, the expressions of c-fos and c-myc mRNAs in left ventricular muscle in HXQYF-treated groups were significantly down-regulated as compared with those of the untreated group (P<0.05). The expressions of c-myc protein were also significantly decreased in high- and medium-dose HXQYF-treated groups as compared with the untreated group (P<0.05), but it had no significant effects in protein expression of c-fos in the three HXQYF-treated groups. CONCLUSION: HXQYF can inhibit the expression of c-myc in ventricular hypertrophy tissue, which may be the mechanism in treating LVH of hypertension.

Objective To investigate the molecular genetic causes and their characteristics of deafness from patients with nonsyndromic hearing loss in Gansu province.Methods Peripheral blood samples were obtained from a total of 375 patients with nonsyndromic hearing loss to extract genomic DNA.Three genes of GJB2, mitochondrial DNA 12SrRNA, and SLC26A4 were screened for mutations in our study cohort using SNPscan technology.Results Among 375 patients, 23 patients were found to carry the homoplasmic mtDNA12SrRNA A1555G mutation, and 2 patients were detected to carry the homoplasmic mtDNA12SrRNA C1494T mutation.Forty-two cases(11.2%) were caused by GJB2 mutations, including 31cases(8.3%) of homozygous mutations, 11 patients(2.9%) of compound heterozygous mutations, and 25 cases(6.7%) of single homozygous mutations.c.235delC was the most prevalent GJB2 mutation with the allele frequency of 8.8%.Twenty-nine cases (7.7%) were caused by SLC26A4mutations, including 17cases(4.5%) of homozygous mutations, 12 patients(3.2%) of compound heterozygous mutations, and 16 cases(4.3%) of single homozygous mutations.c.919-2A>G and c.2168A>G were the most common SLC26A4 mutation, the allele frequencies were 5.2% and 2.0%, respectively.Conclusion A high incidence of mtDNA12SrRNAA1555G mutation is found in nonsyndromic hearing loss patients from Gansu province, while the incidence of GJB2 and SLC26A4 mutations is similar to the level of the overall Chinese deaf population.These findings demonstrate that a total of 25.6% of deaf patients have inherited hearing impairment caused by GJB2, SLC26A4, and mitochondrialDNA12SrRNA mutations.As a result 36% patients and family member can acquire effective genetic counseling.

OBJECTIVE: To investigate the role of expression of stromelysin-3 in laryngeal carcinoma and the relationship between stromelysin-3 expression and the invasion and metastasis of laryngeal cancer. METHOD: The expression of stromelysin-3 in 63 samples with laryngeal carcinoma and 63 adjacent normal tissue were detected by immunohistochemistry. The mRNA expression of stromelysin-3 were examined by reverse transcript-polymerase chain reaction (RT-PCR) in 22 frozen specimens of laryngeal cancer and 22 adjacent normal tissue. RESULT: The immunochemistry showed the expression of stromelysin-3 in laryngeal cancer is much higher than that in adjacent normal tissue (P < 0.01), RT-PCR showed the expression of stromelysin-3 in laryngeal cancer was much higher than that in adjacent normal tissue (P < 0.01). The expression of stromelysin-3 in protein level was not only much higher in T3 + T4 group than that in T1 + T2 group (P < 0.01) but also much higher in nodal metastases group than that in the group without nodal metastases (P < 0.05). The mRNA expression of stromelysin-3 was higher in T3 +T4 group than that in T1 + T2 group (P < 0.05) and was higher in nodal metastases group than that in group without nodal metastases (P < 0.05). The expression of stromelysin-3 both in protein level and in mRNA level was not associated with different primary location and different histological grade of laryngeal cancer (P > 0.05). CONCLUSION The expression of stromelysin-3 was closely associated with the invasion and metastases of laryngeal carcinoma, it may be served as a marker in estimating the invasion and metastases potency of laryngeal cancer.
Adult ; Aged ; Biomarkers, Tumor ; Female ; Humans ; Laryngeal Neoplasms ; metabolism ; pathology ; Lymphatic Metastasis ; Male ; Matrix Metalloproteinase 11 ; metabolism ; Middle Aged ; Neoplasm Invasiveness

Objective:To explore the mediating effect of expectations regarding aging between social support and frailty in elderly patients with chronic obstructive pulmonary disease (COPD), so as to promote better health education among medical staff and improve patients′ ability to cope with frailty.Methods:This was a cross-sectional study, the convenience sampling method was used to select 258 elderly COPD patients hospitalized in the Department of Respiratory Medicine and Geriatrics of Xinjiang Uygur Autonomous Region People′s Hospital from November 2021 to April 2022. They were investigated by the general information questionnaire, Fried Scale, Social Support Scale and Expectations Regarding Aging-21. Analyzed the correlation among social support, expectations regarding aging and frailty. AMOS 26.0 was used to investigate the mediating effect of expectations regarding aging between social support and frailty in elderly COPD patients.Results:The score of social support, expectations regarding aging and frailty in elderly patients with COPD was (30.45 ± 5.57), (35.25 ± 6.28) and (2.34 ± 1.71)points, respectively. There was negative correlation between social support and frailty in elderly COPD patients ( r=-0.541, P<0.01), while positive correlation between social support and expectations regarding aging ( r=0.477, P<0.01). The negative correlation between social support and expectations regarding aging ( r=-0.536, P<0.01). Expectations regarding aging played a partial mediating role between social support and frailty, with mediating effect value of -0.229, accounting for 35.39% of the total effect. Conclusions:Expectations regarding aging is a mediator variable between social support and frailty in elderly COPD patients. Health care providers can alleviate or even reverse patients' debilitating condition by improving their expectations regarding aging and social support.