Objective:To explore the clinical application of preimplantation genetic testing for monogenic disorders (PGT-M) in an unique case with Spinal muscular atrophy (SMA) type 2+ 0.Methods:A special SMA family presented at the Third Affiliated Hospital of Guangzhou Medical University on October 19, 2020 was selected as the study subject. Multiple ligation-dependent probe amplification (MLPA) and molecular tagging linkage analysis were carried out to identify the SMN1 genotype of the couple and their fetus. Subsequently, next-generation sequencing (NGS), molecular tagging linkage analysis, and chromosomal microarray analysis were employed to determine the haplotypes and validate the result of PGT-M on the 11 embryos derived for the couple. Results:The female partner was identified as a carrier of the rare SMN1[2+ 0] variant, and prenatal diagnosis confirmed the fetus to be affected by SMA. Ultimately, PGT-M has successfully selected four embryos free from the pathogenic SMN1 variants and X chromosome deletion. Conclusion:PGT-M can effectively prevent the transmission of rare genetic variants such as the SMA 2+ 0 subtype in the families. Above finding has provided guidance for genetic counseling and family planning for the couple.

ObjectiveTo demonstrate the long-term effect of Yishi Therapy for primary tinnitus and analyze the factors affecting the effectiveness. MethodsWe conducted long-term follow-ups of primary tinnitus cases treated with Yishi Therapy during 1 January 2017 to 30 June 2023 by face-to-face， online and telephone between 1 July 2023 and 31 January 2024， to understand the final regression of primary tinnitus and lifestyle changes. We retrospectively analysed the basic data of patients before treatment， and statistically analysed the recovery rate and overall effective rate of tinnitus treated by the Yishi Therapy， and the factors affecting the effectiveness such as lifestyle， age， duration of disease， gender， tinnitus location， severity of tinnitus， accompanying symptoms and complications on the overall effective rate. ResultsA total of 496 cases of primary tinnitus completed follow-ups successfully， and the total Tinnitus Evaluation Questionnaire （TEQ） at follow-up was significantly lower than that before treatment （P＜0.001）. Among the 496 cases， 101 （20.36%） cases cured， 189 （38.10%） cases showed significant improvement， 116 （23.39%） cases were effective， 90 （18.15%） cases were ineffective， and the overall effect rate was 81.85% （406/496）. At follow-up， the score of lifestyle was higher than that before treatment （P＜0.001）. Grouped by the score of lifestyle at follow-up， the effective rates of better lifestyle group and poor lifestyle group were 97.53% （237/243） and 66.80% （169/253）， respectively， with statistical significance （P＜0.001）. Grouped by the mean value of the difference in lifestyle scores before and after treatment， the effective rates of the group with greater lifestyle adjustment and the group with smaller adjustment were 97.55% （239/245） and 66.53% （167/251）， respectively， and the differences were statistically significant （P＜0.001）. Binary logistic regression showed that the better lifestyle， the greater lifestyle adjustment and the severity of tinnitus were positively correlated with the total effective rate of tinnitus （P＜0.001）， while older and hearing loss were negatively correlated with the total effective rate of tinnitus （P＜0.05）. ConclusionYishi Therapy on primary tinnitus shows good long-term effect， lifestyle， severity of tinnitus， hearing loss or not， age are the relevant factors affecting the efficacy of tinnitus， lifestyle is the main factor affecting clinical efficacy.

Objective Polymorphic microsatellite markers developed for Apodemus peninsulae can enrich its genetic data and lay a foundation for genetic quality control and gene mapping.Methods Microsatellite loci were screened based on the genome sequence of Apodemus peninsulae,and microsatellite primers were identified.The genetic diversity of the population was analyzed by multiplex PCR.Results Thirty microsatellite markers were successfully developed and evaluated using 60 samples of Apodemus peninsulae.A total of 152 alleles were detected,with an average of 5.067 alleles per locus.The average observed heterozygosity was 0.592.The average Shannon index was 1.265.The average polymorphism information content was 0.598.Conclusions Based on the microsatellite loci developed in this study,the genetic diversity of Apodemus peninsulae can be effectively analyzed,laying a foundation for establishing genetic quality standards and detection method.

Objective To establish a PCR-based capillary electrophoresis(PCR/CE)to detect Survival Motor Neuron 1(SMN1)and Survival Motor Neuron 2(SMN2)genes and to evaluate its performance.Methods PCR/CE and Multiplex Ligation-dependent Probe Amplification(MLPA)for SMA gene diagnosis were used to blindly test the samples in sync.The performance of PCR/CE was assessed using MLPA results as the standard.Results A total of 336 samples were included in this study,consisting of 50 homozygous deletion types(14.9%),65 heterozygous deletion types(19.3%),and 221 non-deletion types(65.8%).The results of PCR/CE for detect-ing SMN1 and SMN2 copy numbers(0,1,2,3,≥4)were in complete agreement with the results of the MLPA.Conclusions PCR/CE for gene testing related to SMA could accurately detect copy numbers of exon 7 and exon 8 of the SMN1 and SMN2 genes(0,1,2,3,≥4).

Objective:To investigate the factors affecting postoperative short-term improvement of consciousness level in patients with prolonged disorders of consciousness after severe traumatic brain injury (sTBI).Methods:A case-control study was conducted to analyze the clinical data of 55 patients with prolonged disorders of consciousness after sTBI admitted to Beijing Tiantan Hospital Affiliated to Capital Medical University and Seventh Medical Center of PLA General Hospital from September 2021 to September 2022. There were 33 males and 22 females, with the age range of 13-68 years [(43.0±15.5)years]. All patients were assessed for the consciousness level using the coma recovery scale-revision (CRS-R) preoperatively and within 48 hours postoperatively. A total of 33 patients were observed in vegetative state and 22 in minimally conscious state preoperatively. The consciousness level was found to be improved in 26 patients (consciousness- improved group), but not improved in the remaining 29 patients (consciousness-unimproved group). Indicators were documented including gender, age, cause of injury, Glasgow coma score (GCS) on admission, course of injury, preoperative consciousness level, operation mode, operation time, intraoperative fluid replenishment, intraoperative urine volume, intraoperative bleeding volume, American Society of Anesthesiologists grade, analgesic regimen and sedation maintenance drugs. A univariate analysis was conducted first to assess those indicators′ correlation with postoperative short-term improvement of consciousness level in patients with prolonged disorders of consciousness after sTBI. Multivariate Logistic regression analysis was then used to determine the independent risk factors for their postoperative short-term improvement of consciousness level.Results:Univariate analysis showed that GCS on admission, course of injury, preoperative consciousness level and analgesic regimen were correlated with short-term improvement of postoperative consciousness level in patients with prolonged disorders of consciousness after sTBI (all P<0.05), whereas gender, age, cause of injury, operation mode, operation time, intraoperative fluid replenishment, intraoperative urine volume, intraoperative bleeding volume, American Society of Anesthesiologists grade and sedation maintenance drugs showed no relation to the improvement of postoperative consciousness level (all P>0.05). Multivariate Logistic regression analysis showed that the GCS ≥7 points on admission ( OR=0.06, 95% CI 0.01, 0.36, P<0.01), preoperative minimally conscious state ( OR=0.09, 95% CI 0.02, 0.40, P<0.01) and intraoperative use of Sufentanil combined with Remifentanil ( OR=0.07, 95% CI 0.01, 0.43, P<0.01) were significantly correlated with postoperative improvement of consciousness level. Conclusion:The GCS on admission (≥7 points), preoperative minimally conscious state and intraoperative use of Sufentanil combined with Remifentanil are independent risk factors affecting short-term postoperative improvement of consciousness level in patients with prolonged disorders of consciousness after sTBI.

ObjectiveTo clarify the relationship between childhood maltreatment and insomnia in middle school students， and to explore the mediating role of post-traumatic stress disorder （PTSD） symptoms and the moderating role of mental resilience involvement. MethodsFrom April to May 2021， a total of 3 412 students in 3 middle schools in a city in western China were selected using convenient sampling method， and all students were assessed by Childhood Trauma Questionnaire （CTQ）， Post Traumatic Stress Disorder Scale （PCL）， Insomnia Severity Index （ISI） and mental resilience scale. The moderated mediating effect analysis was conducted using Process v3.4. ResultsAmong the middle school students， CTQ scores were positively correlated with PCL and ISI scores （r=0.540， 0.320， P<0.05）， and the scores of CTQ， PCL and ISI were negatively correlated with the score of mental resilience scale （r=-0.049， -0.193， -0.132， P<0.05）. PTSD symptoms exhibited a partial mediating effect on the relationship between general childhood maltreatment and insomnia （β=0.161， P<0.05）， accounting for 80.5% of the total effect. ConclusionAmong the middle school students， the relationship between childhood maltreatment and insomnia is partially mediated via PTSD symptoms， and mental resilience exerts a moderating role between childhood maltreatment and PTSD symptoms.

Objective:To explore the mediating role of insomnia between childhood trauma and suicide risk in middle school students.Methods:Childhood trauma questionnaire(CTQ), insomnia severity index(ISI) and suicidal behaviors questionnaire-revised(SBQ-R) were used to investigate 3 442 middle school students.According to the total score of the SBQ-R, those who scored less than or equal to 6 were divided into low suicide risk group, and those who scored more than or equal to 7 were divided into high suicide risk group.In this study, there were 2 168 students in the low suicide risk group and 1 274 students in the high suicide risk group.SPSSAU 21.0 online statistical software was used for common method deviation test, descriptive statistics, variance analysis and correlation analysis, and structural equation model was constructed, and Bootstrap method was used for mediation effect test.Results:(1) There were statistically significant differences between the high suicide risk group and the low suicide risk group in terms of grade and gender( χ2=11.144, 83.737, both P<0.05), and there were statistically significant differences in the types of childhood trauma and the severity of insomnia( χ2=292.211, 333.998, both P<0.05). (2) The total score of childhood trauma in the high suicide risk group (43.92±10.50) was higher than that in the low suicide risk group (37.74±6.93) ( F=351.78, P<0.01), and the score of insomnia in the high suicide risk group (10.66±5.54) was higher than that in the low suicide risk group (7.04±4.76) ( F=379.25, P<0.01). (3)The total score of childhood trauma was positively correlated with the score of suicide risk ( r=0.415, P<0.01), and the total score of childhood trauma was positively correlated with the score of insomnia ( r=0.306, P<0.01), and the score of insomnia was significantly positively correlated with the score of suicide risk ( r=0.399, P<0.01). After controlling for demographic data, anxiety and depression, the correlation was still significant ( P<0.01). (4) Path analysis and mediation test showed that childhood trauma had a positive effect on insomnia ( β=0.30, P<0.01), insomnia had a positive effect on suicide risk ( β=0.29, P<0.01), and childhood trauma had a positive effect on suicide risk ( β=0.33, P<0.01). The mediating effect of insomnia accounted for 21.21% of the total effect.After controlling for demographic data, anxiety and depression, the mediating effect accounted for 10.66% of the total effect. Conclusion:Childhood trauma and insomnia have a significant impact on the suicide risk among middle school students.Insomnia plays a partial mediating role between childhood trauma and middle school students' suicide risk.Timely management of the sleep disturbances of traumatized individuals can reduce the suicide risk among middle school students.

Objective:To study the risk factors for acute kidney injury (AKI) after adult orthotopic liver transplantation.Methods:The clinical data of 232 recipients who underwent orthotopic liver transplantation at the First Affiliated Hospital of Zhengzhou University from January 2019 to April 2021 were retrospectively analyzed. There were 195 males and 37 females, aged (49.1±9.4) years old. The patients were divided into two groups according to whether AKI had occurred within 7 days of surgery into the AKI group ( n=112) and the non-AKI group ( n=120). Clinical data including basic information, preoperative hematological indexes, operation time and postoperative hospital stay were compared between the two groups. Factors associated with AKI after orthotopic liver transplantation were studied using univariate analysis and those factors with significant differences were included in multifactorial logistic regression analysis. Results:Among 232 patients who underwent orthotopic liver transplantation, 112 patients developed AKI after surgery, with an incidence of 48.3% (112/232). There were 64 patients with AKI stage 1 (57.1%, 64/112), 30 patients with AKI stage 2 (26.8%, 30/112), and 18 patients with AKI stage 3 (16.1%, 18/112). Logistic regression analysis showed that hypertension ( OR=5.874, 95% CI: 1.931-17.863, P=0.002) and high scores on the model for end-stage liver disease (MELD) ( OR=1.041, 95% CI: 1.010-1.074, P=0.010) were independent risk factors for AKI after orthotopic liver transplantation. Conclusion:Hypertension and MELD score were independent risk factors for postoperative AKI in orthotopic liver transplant recipients.

ObjectiveTo study the anxiety and depression status of the third-year junior high school students in Nanning city， and to discuss their relationships with test anxiety， so as to provide references for targeted psychological intervention for students. MethodsFrom May to June， 2021， a simple random sampling method was adopted to randomly enroll three classes of third-grade students from one junior high school in each district and county of Nanning city. The selected students were assessed using Test Anxiety Scale （TAS）， Self-rating Anxiety Scale （SAS） and Self-rating Depression Scale （SDS）. Thereafter， Pearson correlation analysis was conducted to explore the correlation among each scale score. ResultsA total of 2 080 students participated in the survey， and 1 826 （87.79%） valid questionnaires were collected. Among them， 999 students （54.71%） felt uncomfortable due to the test. Anxiety and depression were detected in 577 （31.60%） and 830 （45.45%） students， respectively. TAS score of female students was higher than that of male students ［（16.75±6.78） vs. （15.08±6.97）， t=-5.136， P<0.01］， SAS score of female students was higher than that of male students ［（46.05±10.43） vs. （44.16±10.87）， t=-3.769， P<0.01］， and SDS score of female students was higher than that of male students ［（52.34±12.44） vs. （49.98±12.17）， t=-4.039， P<0.01］. Correlation analysis showed that SAS and SDS scores were positively correlated with TAS score （r=0.574， 0.531， P<0.01）， and the correlation still existed after further controlling for age and gender （r=0.570， 0.526， P<0.01）. ConclusionThe third-year junior high school students in Nanning city suffer a high prevalence rate of anxiety and depression， and the two psychological states have positive relations with TAS. Furthermore， both anxiety and depression are more severe in female students than in male students.