Objective:To investigate the semen characteristics of male patients with autosomal dominant polycystic kidney disease (ADPKD) complicated by infertility and the impact of PKD1 mutations on their reproductive outcomes following preimplantation genetic testing for monogenic diseases (PGT-M). Methods:A retrospective cohort study was conducted to analyze the clinical data of ADPKD patients in the Clinical Center of Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University from January 2015 to December 2023. The study included two groups: observation group consisting of male infertility patients with ADPKD aged 20-45 years ( n=78), and control group comprising ADPKD patients with PKD1 mutations who demonstrated normal semen parameters ( n=5). According to the type of mutation, the patients were further divided into the PKD1 truncated mutation group and the non-truncated mutation group. Baseline data, ovulation induction outcomes and PGT-M clinical outcomes were compared between the two groups. Binary logistic regression analysis was used to assess the effects of age, family history, mutation type and mutation position on semen quality and live birth rates. Results:In the observation group, there were 28 cases of asthenozoospermia, 38 cases of oligoasthenozoospermia, and 12 cases of azoospermia. The total sperm count and forward motility ratio of patients with asthenozoospermia, oligoasthenozoospermia, and azoospermia in the observation group were significantly different from those in control group (all P<0.001). Genetic diagnosis revealed PKD1 mutations in 70 cases, PKD2 mutation in 1 case, and no known pathogenic mutations were identified in 7 cases. Among the 70 ADPKD patients with PKD1 mutations, 52 couples underwent PGT-M assisted reproduction. The blastocyst formation rate was significantly lower in the non-truncating mutation group [44.74% (51/114)] than in the truncating mutation group [58.76% (161/274), P=0.011]. No statistically significant differences were observed between the two groups in other parameters including age of both partners, semen parameters, number of oocytes retrieved, two pronuclei (2PN) rate, number of available embryos, high-quality embryo rate, clinical pregnancy rate, miscarriage rate, and live birth rate (all P>0.05). Binary logistic regression analysis showed that neither PKD1 mutation type nor PKD1 mutation site was an independent factor affecting semen parameters and live birth rate in ADPKD patients (all P>0.05). Conclusions:Asthenospermia and oligoasthenospermia are the most common semen phenotypes in ADPKD-associated male infertility. The PKD1 mutation type and location are not associated with abnormal semen parameters in ADPKD-associated infertility patients. PKD1 mutation types do not affect the outcomes of PGT-M in infertile patients with ADPKD.

Objective To evaluate the effectiveness of active screening in improving the detection rate of carbape-nem-resistant Enterobacterales(CRE)in the intensive care units(ICUs).Methods From July 2023 to June 2024,active screening of rectal swab CRE was conducted on ICU patients in 10 hospitals.ICU patients who underwent ac-tive screening from July 2023 to June 2024 were selected as the study group,while those who did not undergo active screening from July 2022 to June 2023 were selected as the control group.Difference in CRE detection rates between the two groups of patients was compared.Results A total of 7 803 ICU patients were included in the study group,744 CRE strains were detected,with a detection rate of 9.53％,out of which 304 CRE strains were detected through routine detection(detection rate 3.90％),3 707 patients underwent active screen,440 CRE strains were detected(detection rate 11.87％).7 561 ICU patients were included in the control group,out of which 250 CRE strains were detected through routine detection,with a detection rate of 3.31％.There was a statistically significant difference in the overall detection rate of CRE between two groups of patients(x2=246.18,P＜0.001).In the study group,CRE detection rate of active screening(11.87％)was higher than that of routine detection(3.90％),with statistically significant difference(x2=264.26,P＜0.001).A total of 17 CRE strains were detected from the study group.The proportions of Klebsiella pneumoniae(80.92％vs 73.41％)and Serratia marcescens(2.30％vs0.23％)in the routine detection group were both higher than in the active screening group,while the proportion of Escherichia coli in the routine detection group was lower(8.22％vs 19.55％),all with statistically significant differences(all P＜0.05).Conclusion The prevalence of CRE in ICUs is relatively high,with a wide range of bac-terial species.Active screening can improve the detection rate of CRE.

Objective:To investigate the semen characteristics of male patients with autosomal dominant polycystic kidney disease (ADPKD) complicated by infertility and the impact of PKD1 mutations on their reproductive outcomes following preimplantation genetic testing for monogenic diseases (PGT-M). Methods:A retrospective cohort study was conducted to analyze the clinical data of ADPKD patients in the Clinical Center of Reproductive Medicine, the First Affiliated Hospital of Nanjing Medical University from January 2015 to December 2023. The study included two groups: observation group consisting of male infertility patients with ADPKD aged 20-45 years ( n=78), and control group comprising ADPKD patients with PKD1 mutations who demonstrated normal semen parameters ( n=5). According to the type of mutation, the patients were further divided into the PKD1 truncated mutation group and the non-truncated mutation group. Baseline data, ovulation induction outcomes and PGT-M clinical outcomes were compared between the two groups. Binary logistic regression analysis was used to assess the effects of age, family history, mutation type and mutation position on semen quality and live birth rates. Results:In the observation group, there were 28 cases of asthenozoospermia, 38 cases of oligoasthenozoospermia, and 12 cases of azoospermia. The total sperm count and forward motility ratio of patients with asthenozoospermia, oligoasthenozoospermia, and azoospermia in the observation group were significantly different from those in control group (all P<0.001). Genetic diagnosis revealed PKD1 mutations in 70 cases, PKD2 mutation in 1 case, and no known pathogenic mutations were identified in 7 cases. Among the 70 ADPKD patients with PKD1 mutations, 52 couples underwent PGT-M assisted reproduction. The blastocyst formation rate was significantly lower in the non-truncating mutation group [44.74% (51/114)] than in the truncating mutation group [58.76% (161/274), P=0.011]. No statistically significant differences were observed between the two groups in other parameters including age of both partners, semen parameters, number of oocytes retrieved, two pronuclei (2PN) rate, number of available embryos, high-quality embryo rate, clinical pregnancy rate, miscarriage rate, and live birth rate (all P>0.05). Binary logistic regression analysis showed that neither PKD1 mutation type nor PKD1 mutation site was an independent factor affecting semen parameters and live birth rate in ADPKD patients (all P>0.05). Conclusions:Asthenospermia and oligoasthenospermia are the most common semen phenotypes in ADPKD-associated male infertility. The PKD1 mutation type and location are not associated with abnormal semen parameters in ADPKD-associated infertility patients. PKD1 mutation types do not affect the outcomes of PGT-M in infertile patients with ADPKD.

Bipolar disorder in children, a serious mental illness, often leads to significant functional impairment. Bipolar disorder onset in children is rare and is difficult to diagnose correctly due to the atypical clinical manifestations. Risperidone, as a second-generation antipsychotic, shows satisfied efficacy in children with bipolar disorder with dual effects on mood stabilization and psychotic symptom control. However, the long-term efficacy and safety of risperidone for the treatment of children with bipolar disorder remains unknown. This paper reports a 5-year-old child with bipolar disorder who was treated with low-dose risperidone and followed up for 4 years. The child showed significant emotional stabilization and behavioral improvement at the beginning of treatment. No serious side effects occurred during long-term follow-up. This paper detailly describes the clinical manifestations and diagnostic process of bipolar disorder onset in children in aspects of detailed clinical observation and evaluation. It summarizes the efficacy and safety of risperidone in the treatment of pediatric bipolar disorder to provide valuable experience for clinicians.

Major depressive disorder in adolescents is a serious psychiatric condition characterized by profound impairment in psychosocial functioning. Its primary symptoms include low mood, irritability, and anhedonia. Although pharmacological treatments and psychotherapy are currently recommended as first-line treatments, their effectiveness is limited, and pharmacological treatments may carry the risk of increased suicidal ideation. Therefore, exploring new, effective, and safe treatment options is an urgent priority. In recent years, intermittent theta burst stimulation (iTBS), a novel form of transcranial magnetic stimulation, has shown promising results in treating treatment-resistant depression in adults, drawing growing interest in its potential use in adolescents. iTBS modulates neural activity through magnetic stimulation of the cerebral cortex and has been shown to alleviate depressive symptoms, particularly when targeting the left dorsolateral prefrontal cortex (DLPFC). Given the high neuroplasticity of the adolescent brain during this critical developmental stage, adolescents may exhibit heightened sensitivity to iTBS, resulting in more enduring neuroregulatory effects. Research highlights the importance of precise targeting and individualized adjustment of stimulation intensity for optimal therapeutic outcomes. Additionally, accelerated iTBS (aiTBS) protocols have demonstrated faster clinical effects in treating acute or severe depression in adolescents, improving treatment adherence and partially mitigating suicidal tendencies. This review summarizes recent progress in the application of iTBS in adolescent depression, with a focus on its mechanisms, treatment parameters, and related research. The goal is to provide theoretical support and practical guidance for the clinical application of iTBS in adolescent depression care.

ObjectiveTo explore the effect of exercise on anxiety and depression in cancer patients during chemotherapy, as well as the optimal exercise dosage. MethodsA PICO framework was constructed, and randomized controlled trials (RCTs) on the effect of exercise on anxiety and depression in cancer patients during chemotherapy were retrieved from databases of PubMed, Web of Science, Cochrane Library, Embase, Medline, CNKI, VIP and Wanfang data, from the establishment to November, 2023. The quality of the literature was evaluated with Cochrane Risk of Bias Tool and Physiotherapy Evidence Database (PEDro) scale. Data were synthesized and analyzed using RevMan 5.3, and the risk of bias was evaluated using Stata 18.0. ResultsA total of 13 RCTs involving 1 340 subjects were included. The scores of PEDro scale were five to eight. Exercise interventions significantly improved anxiety (SMD = -0.70, 95%CI -1.18 to -0.22, P = 0.004) and depression (SMD = -0.89, 95%CI -1.43 to -0.34, P = 0.002) compared to the control group. Subgroup analyses showed that, the exercise effect on anxiety was less than 45 minutes a time (SMD = -0.26, 95%CI -0.46 to -0.05, P = 0.01), more than three times a week (SMD = -0.26, 95%CI -0.46 to -0.05, P = 0.01), and less than twelve weeks (SMD = -0.21, 95%CI -0.36 to -0.07, P = 0.005). For depression, it was less than 45 minutes a time (SMD = -0.69, 95%CI -1.29 to -0.08, P = 0.03), more than three times a week (SMD = -0.69, 95%CI -1.29 to -0.08, P = 0.03), and less than twelve weeks (SMD = -0.52, 95%CI -0.92 to -0.13, P = 0.01). Moderate to high-intensity exercise interventions significantly outperformed the control group in improving anxiety (SMD = -0.21, 95%CI -0.37 to -0.06, P = 0.007) and depression (SMD = -0.21, 95%CI -0.41 to -0.01, P = 0.04). ConclusionExercise interventions can effectively improve anxiety and depression in cancer patients during chemotherapy, and it suggests for high-intensity exercise, less than 45 minutes a time, more than three times a week, and less than twelve weeks.

ObjectiveTo observe the clinical efficacy and safety of Zhuyuwan in the treatment of hyperlipidemia. MethodsIn this study， hyperlipidemia patients treated in the Hospital of Chengdu University of Traditional Chinese Medicine （TCM） from September 2022 to December 2023 were randomly assigned into a control group and an observation group. Finally， 162 valid cases were included， encompassing 74 cases in the control group and 88 cases in the observation group. The control group was treated with atorvastatin calcium tablets， and the observation group with atorvastatin calcium tablets + Zhuyuwan extract granules. Both groups were treated for 8 weeks. The efficacy in terms of blood lipid level recovery， blood lipid levels， TCM syndrome distribution， efficacy in terms of TCM syndrome， and TCM symptom scores were compared between the two groups as well as between before and after treatment. Liver and kidney functions were monitored for safety assessment. ResultsIn terms of blood lipid level recovery， the total response rate in the observation group was 86.36% （76/88） and that in the control group was 86.49% （64/74）， with no statistically significant difference between the two groups. After treatment， both groups showed declines in levels of triglyceride （TG）， total cholesterol （TC）， and low-density lipoprotein cholesterol （LDL-C） （P<0.05） and elevations in the level of high-density lipoprotein cholesterol （HDL-C） （P<0.05）. Moreover， the observation group outperformed the control group in recovering the levels of TG， LDL-C， and HDL-C （P<0.05， P<0.01）. In terms of TCM syndrome， hyperlipidemia was mostly caused by phlegm turbidity and obstruction. The total response rate in terms of TCM syndrome in the observation group was 87.30% （55/63）， which was higher than that （63.46%， 33/52） in the control group （χ²=9.102， P<0.01）. After treatment， the scores of total TCM symptoms， primary symptoms， and secondary symptoms decreased in both groups （P<0.05）， and the observation group had lower scores than the control group （P<0.01）. The observation group was superior to the control group in alleviating obesity， chest tightness， and low food intake （P<0.05）. In terms of safety， the level of aminotransferase was slightly elevated in the control group， and no obvious adverse reaction was observed in the observation group， with no statistical significance in the incidence of adverse reactions. ConclusionZhuyuwan combined with atorvastatin can not only recover blood lipid levels and alleviate TCM symptoms but also reduce the occurrence of adverse reactions.

ObjectiveTo observe the clinical efficacy and safety of Zhuyuwan in the treatment of hyperlipidemia. MethodsIn this study， hyperlipidemia patients treated in the Hospital of Chengdu University of Traditional Chinese Medicine （TCM） from September 2022 to December 2023 were randomly assigned into a control group and an observation group. Finally， 162 valid cases were included， encompassing 74 cases in the control group and 88 cases in the observation group. The control group was treated with atorvastatin calcium tablets， and the observation group with atorvastatin calcium tablets + Zhuyuwan extract granules. Both groups were treated for 8 weeks. The efficacy in terms of blood lipid level recovery， blood lipid levels， TCM syndrome distribution， efficacy in terms of TCM syndrome， and TCM symptom scores were compared between the two groups as well as between before and after treatment. Liver and kidney functions were monitored for safety assessment. ResultsIn terms of blood lipid level recovery， the total response rate in the observation group was 86.36% （76/88） and that in the control group was 86.49% （64/74）， with no statistically significant difference between the two groups. After treatment， both groups showed declines in levels of triglyceride （TG）， total cholesterol （TC）， and low-density lipoprotein cholesterol （LDL-C） （P<0.05） and elevations in the level of high-density lipoprotein cholesterol （HDL-C） （P<0.05）. Moreover， the observation group outperformed the control group in recovering the levels of TG， LDL-C， and HDL-C （P<0.05， P<0.01）. In terms of TCM syndrome， hyperlipidemia was mostly caused by phlegm turbidity and obstruction. The total response rate in terms of TCM syndrome in the observation group was 87.30% （55/63）， which was higher than that （63.46%， 33/52） in the control group （χ²=9.102， P<0.01）. After treatment， the scores of total TCM symptoms， primary symptoms， and secondary symptoms decreased in both groups （P<0.05）， and the observation group had lower scores than the control group （P<0.01）. The observation group was superior to the control group in alleviating obesity， chest tightness， and low food intake （P<0.05）. In terms of safety， the level of aminotransferase was slightly elevated in the control group， and no obvious adverse reaction was observed in the observation group， with no statistical significance in the incidence of adverse reactions. ConclusionZhuyuwan combined with atorvastatin can not only recover blood lipid levels and alleviate TCM symptoms but also reduce the occurrence of adverse reactions.

Objective:To discuss the optimal doping concentration of vanadium(V)and silicon(Si)co-doped TiO? coating(V-Si TiO?)formed on titanium surface by electrochemical treatment,to evaluate its antibacterial effect under visible light irradiation,and to clarify its visible light response mechanism.Methods:The medical pure titanium sheets were subjected to micro-arc oxidation followed by high-temperature calcination,and V-Si TiO2 coatings with different doping concentrations were prepared by adjusting the ratio of V to Si in the electrolyte.The experiment was divided into 1V:10Si(V5Si50)group,2V:10Si(V10Si50)group,and 3V:10Si(V15Si50)group;control group was set up(contains only bacterial culture medium).The optimal doping concentration was screened based on comprehensive evaluation of surface morphology,ion release,photocatalytic ability,and biocompatibility;cell counting kit-8(CCK-8)method was used to detect the proliferation activities and the survival rates of the cells in various group.Subsequently,the optimized coating was characterized and compared by scanning electron microscope(SEM),atomic force microscopy(AFM),digital eddy current coating thickness gauge,X-ray diffraction(XRD),X-ray photoelectron spectroscope(XPS),and ultraviolet-visible absorption spectroscopy(UV-vis).The experiment was divided into PT group(blank control),PEO group(no element doping),V10 group(V doping),Si50 group(Si doping),and V10Si50 group(2V:10Si).The ability of the coating materials to degrade methylene blue(MB)and generation of reactive oxygen species(ROS)under visible light were detected.For antibacterial experiments,Staphylococcus aureus(S.aureus)and Escherichia coli(E.coli)were used.The colony counts on plates in various groups were recorded after visible light irradiation for 2 h and dark treatment for 2 h,respectively.The ROS levels were detected using 2',7'-dichlorofluorescein diacetate(DCFH-DA)ROS probe.ROS scavenging experiment was performed using the optimal doping concentration V10Si50 group,and the two kinds of bacteria were divided into blank control group,N-acetylcysteine(NAC)group,V10Si50 group,and NAC+V10Si50 group.The colony counts on plates in various groups were recorded after visible light irradiation for 2 h.Results:The V concentration of 0.01 mol·L?1 and Si concentration of 0.05 mol·L?1 in the electrolyte solution were the optimal doping concentrations for the V-Si TiO? coating.The SEM observation results showed that compared with V5Si50 group and V15Si50 group,the surface pore size of the coating material in V10Si50 group was significantly decreased(P<0.05),and the coating thickness was significantly increased(P<0.05);its crystal structure was mainly anatase type,and the MB degradation rate of the coating material in V10Si50 group after 9 h of visible light catalysis was significantly increased(P<0.05).Compared with control group,the cell proliferation activity and cell survival rate in V10Si50 group were significantly increased at 1,2,and 4 d of cell culture(P<0.05);at 2 and 4 d of cell culture,the cell proliferation activity and cell survival rate in V5Si50 group and V15Si50 group were significantly decreased(P<0.05).Compared with PT,PEO,and Si50 groups,the colony counts of two kinds of the bacteria in V10 group and V10Si50 group after visible light irradiation for 2 h were significantly decreased(P<0.05).Compared with PT group and PEO group,the ROS levels in two kinds of the bacteria in V10Si50 group after 2 h of irradiation were significantly increased(P<0.05).Compared with V10Si50 group,the colony counts of two kinds of the bacteria in NAC+V10Si50 group were significantly increased(P<0.05).Conclusion:A reasonably loaded V-Si TiO? coating material(V10Si50)was screened out,which maintained good biological activity and significantly enhanced the antibacterial effect under visible light irradiation.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a patient with Weiss-Kruszka syndrome (WSKA). METHODS: A male patient presented with primary infertility for 1 year post-marriage, intellectual disability, and blepharoptosis at Huzhou Maternity and Child Health Care Hospital from October to December 2024 was selected as the study subject. Peripheral blood samples were collected from the patient and his family members. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Ethics Committee of the Hospital (Ethics No. 2023-R-010). RESULTS: The patient, a 29-year-old male, had exhibited short stature, trigonocephaly, bilateral blepharoptosis, arched eyebrows, brachydactyly, redundant skin folds, webbed neck, hypertrichosis, mild intellectual disability, and speech impairment. WES revealed that he has harbored a de novo heterozygous frameshifting variant of the ZNF462 gene, namely c.945_946del (p.T316Rfs*42). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PM2_Supporting+PVS1+PM6_Supporting). CONCLUSION The ZNF462 c.945_946del variant probably underlay the WSKA in this patient. Above finding has enriched the mutational spectrum of the ZNF462 gene.
Humans ; Male ; Adult ; Intellectual Disability/genetics* ; Transcription Factors/genetics* ; Exome Sequencing ; Mutation ; Abnormalities, Multiple/genetics* ; Blepharoptosis/genetics*