Objective:X-linked non-syndromic hearing loss is an extremely rare type of hearing impairment. This study conducted a phenotypic and genetic analysis of a family with X-linked dominant inheritance to explore the causes of hearing loss. Methods:Clinical data were collected from a patient with non-syndromic hearing loss who visited the Otorhinolaryngology Department of the First Affiliated Hospital of Zhengzhou University in June 2023. Phenotypic and genetic analyses were performed on family members, including audiometric tests, whole-exome sequencing, and PCR-Sanger sequencing verification. Audiological assessments comprised pure-tone audiometry, impedance audiometry, auditory brainstem response, and otoacoustic emission tests. Results:The affected individuals in this pedigree have X-linked dominant non-syndromic deafness caused by mutations in the SMPX gene. The proband, along with their mother and maternal grandmother, exhibit varying degrees of sensorineural hearing loss. Whole-exome sequencing revealed a novel pathogenic variant, NM_014332.3: c. 133-2A>C, in the SMPX gene in the proband. Sanger sequencing confirmed that the proband, proband's mother, and grandmother all carried this pathogenic variant. Conclusion:This study reports a novel pathogenic variant in the SMPX gene, providing additional medical evidence for the diagnosis and treatment of X-linked dominant inherited non-syndromic hearing loss. It enriches the mutation spectrum of the SMPX gene.
Humans ; Pedigree ; Mutation ; Phenotype ; Male ; Hearing Loss, Sensorineural/genetics* ; Exome Sequencing ; Female ; Adult ; Hearing Loss/genetics* ; Evoked Potentials, Auditory, Brain Stem ; Muscle Proteins

Objective A comparative study was conducted on rapid high-altitude models established in SD rats under two hypoxic stress modes,namely,a high-altitude field and simulated high-altitude environment,to evaluate the reliability of the simulated high-altitude test chamber.Methods SD rats were placed in a simulated rapid high-altitude animal experimental chamber(4000 m)or rapid high-altitude field laboratory(4010 m)to establish a rapid high-altitude rat model.After 24 or 72 h of exposure,physiological and pathological indicators related to high-altitude changes were collected and measured,mainly routine blood parameters,blood biochemistry,blood gas,oxidative damage indicators(superoxide dismutase(SOD),malondialdehyde(MDA),glutathione peroxidase(GSH-Px)),and inflammation indicators(interleukin 1β(IL-1 β),interferon-γ(IFN-γ),monocyte chemotactic protein 1(MCP-1)and interleukin 6(IL-6)),and pathological tissue analysis and hypoxia sensitive gene(hypoxia inducible factor-1α(Hif-1α)and vascular endothelial growth factor A(Vegfa))testing were performed.Finally,differential analysis was conducted on the result to obtain a differential evaluation report.Results At the same altitude,both high-altitude field and simulated high-altitude exposure for 72 h caused significant lung and brain damage.Under the same exposure time,the routine blood parameter,blood biochemistry,and blood gas result for the rats were similar.There were no significant differences in the detection of inflammation indicators(IL-6,IL-1β,MCP-1,and IFN-y),oxidative damage indicators(MDA,SOD,and GSH),or hypoxia-sensitive gene expression(Hif-1α and Vegfa)in the brain.However,partial pressure of carbon dioxide(PaCO2)and base excess(BE)were significantly higher in the simulated-72 h group than the other treatment group.The lung hypoxia-sensitive genes(Hif-1α and Vegfa)in the simulated-72 h group showed no significant expression difference with control group,and the brain coefficient of the high-altitude field treatment group was significantly higher than that of the simulated high-altitude treatment group.These result indicate that there may be slight differences between models prepared in high-altitude field and simulated high-altitude environments.Conclusions The simulated high-altitude animal experimental chamber can successfully establish a rapid high-altitude animal model.The simulated altitude can be appropriately increased on the basis of 4000 m.If an altitude of 4000 meters is used,the exposure time should be greater than 24 h but slightly shorter than 72 h.The simulated high-altitude experimental module has good reliability,but it is advisable to use plateaus for on-site experiments as much as possible,if conditions permit.

Objective To develop and evaluate a shortened version of the social support appraisals scale(SSA).Methods A total of 1130 older people employed with the standard were administered by cluster random sampling method in this study.The data of 565 respondents were randomly selected for item screening by classical test theory and item response theory(IRT),while the data of the remaining 565 respondents were used to evaluate the reliability and validity of the shortened version scale.Results Each dimension retains 4 excellent items(5 items in the friend dimension),a shortened version SSA-13 was formed.Cronbach's α of SSA-13 was 0.755～0.866 for each dimension and 0.903 for the total scale.Confirmatory factor analysis showed χ2/v was 4.93,comparative fit index was 0.94,incremental fit index was 0.94,goodness of fit index was 0.92,Tucker-Lewis index was 0.92,root mean square error of approximation was 0.08,and root mean square residual was 0.02,all the fitting indexes have reached the ideal indexes.IRT discrimination parameters were estimated to be 2.34～3.10,except for the item SS-A18(-5.56～1.23),the difficulty parameters of other items were estimated to be-3.76～2.25,average item information ranged from 0.764～1.311.Compared with the original scale,the average information of SSA-13 was reduced 16.06%for the total scale.Conclusion The SSA-13 showed good reliability,validity,and can be used as a simple,reliable and effective measurement tool in social support evaluation studies for the older adult.

Objective By screening and passaging G0 generation Wistar rats,we obtained hypoxia-sensitive and hypoxia-tolerant G1 generation rats,and then the differences in hypoxia sensitivity among these rats were preliminarily explored.Methods 200 Wistar rats(half male and half female)were selected as G0 generation and placed in a controlled oxygen concentration system.The hypoxia tolerance time,which refers to the time from placement to near death,was recorded for the G0 generation rats at an oxygen volume fraction of 3％.30 rats(half male and half female)with the shortest hypoxia tolerance time were selected for mating and passage to obtain G1 generation hypoxia-sensitive rats.Similarly,30 rats(half male and half female)with the longest hypoxia tolerance time were selected for mating and passage to obtain G1 generation hypoxia-tolerant rats.An additional 24 standard Wistar rats were randomly divided into two groups:a control group and a model group,with 12 rats in each group(half male and half female).The control group was kept in a normoxic environment,while the model group,along with the G1 generation hypoxia-sensitive rats(G1 sensitive group)and G1 generation hypoxia-tolerant rats(G1 tolerant group),were placed in a hypobaric hypoxia chamber(simulating an altitude of 5 000 m).After 12 hours,various indicators,including blood gas,complete blood count,blood biochemistry,pathological sections,and hypoxia-related genes were detected or observed to compare the differences in hypoxia sensitivity among the 4 groups.Results Compared with the G0 generation standard rats,the hypoxia tolerance time of G1 generation rats was significantly prolonged(P＜0.01).Compared with the model group,the oxygen saturation(SatO2)in G1 tolerant group was significantly higher(P＜0.05).In the G1 sensitive group,the levels of white blood cell(WBC)count,neutrophil(NEUT)count,hemoglobin(HGB)concentration,hematocrit(HCT),red blood cell distribution width(RDW),platelet(PLT),and creatinine(Cr)significantly increased(P＜0.05 or P＜0.01),while actual bicarbonate(AB)content significantly decreased(P＜0.05),and the brain and lung coefficients were significantly elevated(P＜0.05).In addition,pathological section results showed that the brain and lung tissues in the model group,G1 sensitive group,and G1 tolerant group all suffered from significant damage,with no evident differences in the gene expression levels of hypoxia-inducible factor-1 α(HIF-1α)and vascular endothelial growth factor A(VEG FA)in brain tissues amongthe three groups(P＞0.05).Conclusion Compared with standard rats,G1 generation hypoxia-sensitive/tolerant rats exhibit good signs of hypoxia sensitivity/tolerance traits,but further screening and passage are still needed to purify them.

Objective To investigate the effects of calcium and integrin-binding protein 1(CIB1)on the cell proliferation,invasion,apoptosis,and migration of triple-negative breast cancer cells and its possible mechanism.Methods MDA-MB-231 and MDA-MB-468 cells were divided into CIB1-knockdown(infected with CRISPR/Cas9 lentivirus)and negative-control groups.Cell Counting Kit-8(CCK-8)and 5-ethynyl-2′-deoxyuridine(EdU)assays were performed to detect cell proliferation.Cell apoptosis was determined through flow cytometry.Scratch and Transwell experiments were conducted to measure the migration and invasion abilities of cells.The mRNA and protein expression levels of β-catenin,adenomatous polyposis coli(APC),glycogen synthase kinase 3β(GSK-3β),and c-myc were detected via real-time quantitative polymerase chain reaction and Western blot.Results Compared with the negative-control group,the CIB1-knockdown group showed decreased cell proliferation,invasion,and migration(P<0.05)and increased cell apoptosis(P<0.05).The mRNA and protein expressions of β-catenin,APC,and c-myc decreased(P<0.05),and that of GSK-3β increased(P<0.05).Conclusion CIB1 knockdown can inhibit cell proliferation,invasion,and migration and promote the apoptosis of breast cancer cells.Its mechanism may be related to the inhibition of Wnt/β-catenin signaling pathway.

Objective To develop and evaluate a shortened version of the social support appraisals scale(SSA).Methods A total of 1130 older people employed with the standard were administered by cluster random sampling method in this study.The data of 565 respondents were randomly selected for item screening by classical test theory and item response theory(IRT),while the data of the remaining 565 respondents were used to evaluate the reliability and validity of the shortened version scale.Results Each dimension retains 4 excellent items(5 items in the friend dimension),a shortened version SSA-13 was formed.Cronbach's α of SSA-13 was 0.755～0.866 for each dimension and 0.903 for the total scale.Confirmatory factor analysis showed χ2/v was 4.93,comparative fit index was 0.94,incremental fit index was 0.94,goodness of fit index was 0.92,Tucker-Lewis index was 0.92,root mean square error of approximation was 0.08,and root mean square residual was 0.02,all the fitting indexes have reached the ideal indexes.IRT discrimination parameters were estimated to be 2.34～3.10,except for the item SS-A18(-5.56～1.23),the difficulty parameters of other items were estimated to be-3.76～2.25,average item information ranged from 0.764～1.311.Compared with the original scale,the average information of SSA-13 was reduced 16.06%for the total scale.Conclusion The SSA-13 showed good reliability,validity,and can be used as a simple,reliable and effective measurement tool in social support evaluation studies for the older adult.

Objective: To evaluate the nutritional status, food intake, eating behavior and physical activity level of college students in a medical college in Guangzhou, and to explore its association with dietary behavior. Methods: A total of 263 students selected using stratified random sampling method from a medical college in Guangzhou were investigated by questionnaire from October to December in 2019. Chi square test and Wilcoxon test were used to analyze group differences. Multivariate Logistic regression was used to analyze associated factors with thinness, overweight and obesity. Results: The rate of thinness was 25.5%, and the rate of overweight and obesity was 11.8%. The intake of cereals, fruits, eggs, livestock, fried foods and carbonated drinks varied significantly by gender (U=3 278.00，5 224.50，5 981.00，6 663.00，5 460.00，3 873.00，P＜0.05). There was significant difference in total physical activity level in different grades (U=4 239.50，P＜0.05). Multivariate analysis showed that egg intake was negatively correlated with emaciation (OR=0.20, P＜0.01). Picky eating and partial eating were positively correlated with emaciation (OR=2.96, P＜0.01). Eating fast was positively correlated with overweight and obesity (OR=5.35, P＜0.05). Conclusion The detection rate of malnutrition among college students in this college is relatively high, and dietary behavior is associated with thinness, overweight and obesity.

OBJECTIVE:To optimize the wet paper roasting technology of Rheum palmatum. METHODS:Weighted comprehensive score composed of external properties of R. palmatum roasting with wet paper,the content of extract,total content of anthraquinone,free anthraquinones,conjugated anthraquinone and sennoside A+sennoside B,which were used as investigation indexes. L9(34)orthogonal test was adopted to investigate the three factors as the amount of paper,roasting time and roasting temperature,and optimized wet paper roasting technology of R. palmatum. Validation test was conducted. RESULTS:The optimal roasting technology was as follows as 100 g R. palmatum covered with 12 g paper,processing at 120 ℃,for 2 h. The results of validation test and pilot test showed the average comprehensive scores of roasted R. palmatum were 84.99(RSD<2.0%,n=3) and 85.06(RSD<2.5%,n=3),respectively. CONCLUSIONS:The optimal processing technology is simple and convenient with good reproducibility and operability.It lays a technical foundation for the standardized preparation of stewed R.palmatum.

Objective To compare the organ coefficients and expressions of hypoxia-related genes in Bama and Juema pigs.Method Real-time quantitative PCR was used to detect the changes of hypoxia gene expressions in the heart,liver,spleen,lung,and kidney of Juema and Bama miniature pigs.Results The organ coefficients of kidney and spleen of Juema pigs were significantly lower than Bama miniature pigs (P<0.05 for both).The heart and lung coefficients of Juema pigs were significantly higher than that of Bama miniature pigs (P<0.05 for both).The VEGF and HIF-1α expressions in the lung and kidney in Juema pigs were significantly higher than Bama pigs (P<0.05 or P<0.01).Only the EPO expression in in the lung of Juema pigs was significantly higher than that of the Bama miniature pigs (P<0.05).Conclusions These results indicate that the variation in organ coefficients may be resulted from evolutionary factors such as adaptiveness to environmental physical and energy conditions,pathogens,and energy metabolism demands,etc.in combination.Juema miniature pigs showing a significantly higher expression of hypoxia-related genes than that in Bama minipigs indicate that it has a strong plateau adaptability by higher gene expressions.

Objective To compare the Bama minipig and Juema minipig models of high altitude multi-organ dysfunction syndrome.Methods Six plateau-origin Juema minipigs and plain-origin Bama minpigs in each group received intravenous infusion of 0.35 mg/kg lipopolysaccharide ( LPS) , respectively.Blood samples were taken at 0 h, 3 h, 6 h, 12 h, 24 h, 48 h and 72 h after LPS infusion.Routine blood test was performed, blood CK, AST, ALT, TBIL, CRE were assayed, and histopathological examination of the lung tissues was performed at 24 h, 48 h after LPS infusion.Results The mortality of Bama minipigs was 33.3%, higher than that of 16.7%of Juema minipigs.The trend of physiological and biochemical changes was similar, but was milder in the Juema minipigs than in Bama minipigs.The lung injuries of the Bama minipigs at 24 h and 48 h were more severe than those in the Juema minipigs.Conclusions Both Bama and Juema minipig models of high altitude multi-organ dysfunction syndrome can be successfully established.Juema minipig models can be more closely and safely established, due to its own plateau biological properties, and avoid the influence by extrinsic injurious effects of plateau environment.