Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs^*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.

OBJECTIVE: To investigate the genetic causal relationship of leukocyte telomere length (LTL) with prostatitis, orchitis and epididymitis by two-sample Mendelian randomization (MR). METHODS: Using LTL as the exposure factor and prostatitis, orchitis and epididymitis as outcome factors, we mined the Database of Genome-Wide Association Studies (GWAS). Then, we analyzed the causal relationship of LTL with prostatitis, orchitis and epididymitis by Mendelian randomization using inverse variance weighting (IVW) as the main method and weighted median and MR-Egger regression as auxiliary methods, determined the horizontal multiplicity by MR-Egger intercept test, and conducted sensitivity analysis using the leaving-one-out method. RESULTS: A total of 121 related single nucleotide polymorphisms (SNPs) were identified in this study. IVW showed LTL to be a risk factor for prostatitis (OR = 1.383, 95% CI: 1.044－1.832, P = 0.024), and for orchitis and epididymitis as well (OR = 1.770, 95% CI: 1.275－2.456, P = 0.000 6). CONCLUSION Genetic evidence from Mendelian randomized analysis indicates that shortening of LTL reduces the risk of prostatitis, orchitis and epididymitis.
Humans ; Male ; Mendelian Randomization Analysis ; Epididymitis/genetics* ; Prostatitis/genetics* ; Polymorphism, Single Nucleotide ; Leukocytes ; Orchitis/genetics* ; Genome-Wide Association Study ; Telomere ; Risk Factors

Hearing loss is the most prevalent disabling disease. Cochlear implantation（CI） serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system（Favorable, Marginal, Poor）. The consensus focuses on common hereditary non-syndromic hearing loss（such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1） and syndromic hereditary hearing loss（such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome）, which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans ; Cochlear Implantation ; Prognosis ; Hearing Loss/surgery* ; Consensus ; Connexin 26 ; Mutation ; Sulfate Transporters ; Connexins/genetics*

OBJECTIVES: This study aimed to investigate the potential mediating role of plasma phosphorylated tau217 (p-tau217) in the association between periodontitis and mild cognitive impairment (MCI). METHODS: In this case-control study, patients diagnosed with MCI in the Neurology Department of the First Affiliated Hospital of Shandong Second Medical University from November 2023 to May 2024 were selected as the case group (MCI group). Cognitively normal (CN) volunteers, matched for age and education level and recruited from the physical examination center during the same period, served as the control group (CN group). The general demographic data of the study participants were collected. The Beijing versions of the Montreal Cognitive Assessment (MoCA), clinical dementia rating (CDR), and activities of daily living scale (ADL) were used to assess neuropsychological functions. Clinical periodontal examinations were conducted, the periodontal inflamed surface area (PISA) was calculated, and the periodontitis stage was determined in accordance with the 2018 classification. Fasting elbow venous blood samples were collected in the morning, and blood biochemical indicators were measured. Plasma p-tau217 levels were detected using enzyme-linked immunosorbent assay (ELISA). Statistical analyses were performed using t-test, Mann-Whitney U test, chi-square test, partial correlation analysis, multivariate Logistic regression analysis, multiple linear regression analysis, restricted cubic spline (RCS) regression analysis, and mediation effect analysis. RESULTS: Among the 192 participants, 96 belong to the MCI group and 96 to the CN group. The prevalence of periodontitis was 63.5% in the MCI group and 43.8% in the CN group, with a statistically significant difference (χ²=7.561, P=0.006). The plasma p-tau217 levels in the MCI group were significantly higher than those in the CN group [7.00 (4.27-9.65) ng/mL versus 2.02 (0.80-3.81) ng/mL, Z=-8.108, P<0.001]. Partial correlation analysis revealed that plasma p-tau217 levels were positively correlated with all the clinical periodontal indices (all P<0.001). After adjustments for baseline covariates, multivariate Logistic regression indicated that periodontitis was an independent risk factor for MCI. Patients with periodontitis had a 1.977-fold higher MCI risk than those without periodontitis (OR=1.977, 95%CI: 1.088-3.594, P=0.025). Moreover, the MCI risk for stage Ⅰ/Ⅱ periodontitis and stage Ⅲ/Ⅳ periodontitis was 1.878 times (OR=1.878, 95%CI: 1.029-3.425, P=0.040) and 2.625 times (OR=2.625, 95%CI: 1.073-6.246, P=0.035) higher than that for patients without periodontitis, respectively. Trend test showed that the MCI risk increased with periodontitis severity (P_trend=0.016). After adjustments for baseline covariates, multiple linear regression analysis showed that periodontitis was an independent risk factor for increased plasma p-tau217 levels (β=3.309, 95%CI: 2.363-4.254, P<0.001). Compared with patients without periodontitis, those with stage Ⅰ/Ⅱ periodontitis (β=1.838, 95%CI: 0.869-2.806, P<0.001) and stage Ⅲ/Ⅳ periodontitis (β=5.539, 95%CI: 4.442-6.636, P<0.001) had significantly higher plasma p-tau217 levels. In addition, trend test indicated that plasma p-tau217 levels increased with periodontitis severity (P_trend<0.001). After adjustments for baseline covariates, RCS regression analysis further revealed that PISA had a positive linear dose-response relationship with MCI risk (P_overall=0.002, P_nonlinear=0.344) and plasma p-tau217 levels (P_overall<0.001, P_nonlinear=0.140). After adjustments for baseline covariates, mediation analysis showed that plasma p-tau217 mediated the association between periodontitis and MCI, with a mediation proportion of 13.99% (95% Bootstrap CI: 0.38%-49.39%, P=0.038). CONCLUSIONS Periodontitis was independently positively associated with MCI risk, and plasma p-tau217 plays a mediating role in this association.
Humans ; Cognitive Dysfunction/complications* ; tau Proteins/blood* ; Periodontitis/complications* ; Case-Control Studies ; Male ; Female ; Phosphorylation ; Aged ; Middle Aged ; Activities of Daily Living

Objective To investigate the density,species composition,and seasonal prevalence of domestic rodents in different habitats within Lanzhou garrisons,providing basic information for rodent prevention and control.Methods A total of 12 monitoring sites were sampled across urban,suburban,and rural residential areas from 2014 to 2022.Rodent density was monitored using the night-trapping method in the middle of odd-numbered months.Results From 2014 to 2022,346 domestic rodents were captured using 122 035 effective traps,with an average domestic rodent density of 0.28％.The highest domestic rodent density was 0.63％in 2016,and the lowest was 0.07％in 2020,showing significant differences across years,with an overall trend of initially decreasing and then increasing(χ2=136.555,P<0.001).The dominant species was Rattus norvegicus,accounting for 83.24％of the total rodents captured.Rattus norvegicus accounted for a relatively high proportion across different years,with a statistically significant difference in species composition(χ2=20.931,P<0.05).Rodent densities and species composition also varied significantly among the monitored habitats(P<0.001),with the highest densities observed in rural residential areas and the lowest in urban areas.Seasonal variation in rodent densities showed a bimodal pattern,with smaller peaks in January or March and a larger peak in July.Conclusions Domestic rodent density in Lanzhou garrisons has shown an upward trend in the past few years.Rodent control measures should focus on barracks in rural residential areas,with targeted interventions to reduce the risk of rodent-borne diseases.

Objective To investigate the population composition,seasonal dynamics,and infestation levels of cockroaches in Lanzhou,China,and to provide information for the scientific development of cockroach control strategies.Methods Monitoring was conducted at three locations using the sticky trap method.Habitats included farm product markets,catering establishments,hotels,hospitals,and residential areas.Results From 2016 to 2023,the average cockroach density was 0.77 insects per board,with an average infestation rate of 10.84%.Blattella germanica was the dominant species.Seasonal density of cockroaches showed an approximately unimodal distribution,peaking in September.The highest average density and infestation rates were observed in farm product markets.Conclusions Cockroach density and infestation levels in Lanzhou remained relatively low.A comprehensive prevention and control strategy focusing on environmental management in key areas should be implemented according to the seasonal fluctuations.

Objective It compared the power consumption and electrical parameters between Thulium fiber laser devices(TFL)and Holmium laser devices(HoL)in transurethral enucleation of prostate(TUEP).Methods A sin-gle surgeon conducted TUEP by THL or HoL in 10 patients respectively.The enucleation efficiency,the laser energy output and the electric parameters were recorded and analyzed.Results The data from both groups of surgeries were tested for normal distribution,and the t-test found that the difference in the enucleation efficiency between the two surgeries was not statistically significant(P=0.818),and the energy consumption indexes of the two devices were comparable.The difference in the total kilojoules of laser emission between the two lasers during surgery was not statistically significant(P=0.148),but the power consumption of the thulium laser was about one-tenth of that of the holmium laser(P＜0.001),suggesting that the former utilised electrical energy significantly more efficiently than the latter.The maximum current of the HoL was significantly higher than that of the TFL(P＜0.001),requiring a spe-cial high-power power outlet.Conclusion TFL was superior to HoL in terms of lower power consumption,higher en-ergy-efficient and electrical convenient in transurethral enucleation of the prostate.

Objective It compared the power consumption and electrical parameters between Thulium fiber laser devices(TFL)and Holmium laser devices(HoL)in transurethral enucleation of prostate(TUEP).Methods A sin-gle surgeon conducted TUEP by THL or HoL in 10 patients respectively.The enucleation efficiency,the laser energy output and the electric parameters were recorded and analyzed.Results The data from both groups of surgeries were tested for normal distribution,and the t-test found that the difference in the enucleation efficiency between the two surgeries was not statistically significant(P=0.818),and the energy consumption indexes of the two devices were comparable.The difference in the total kilojoules of laser emission between the two lasers during surgery was not statistically significant(P=0.148),but the power consumption of the thulium laser was about one-tenth of that of the holmium laser(P＜0.001),suggesting that the former utilised electrical energy significantly more efficiently than the latter.The maximum current of the HoL was significantly higher than that of the TFL(P＜0.001),requiring a spe-cial high-power power outlet.Conclusion TFL was superior to HoL in terms of lower power consumption,higher en-ergy-efficient and electrical convenient in transurethral enucleation of the prostate.

Objective It compared the power consumption and electrical parameters between Thulium fiber laser devices(TFL)and Holmium laser devices(HoL)in transurethral enucleation of prostate(TUEP).Methods A sin-gle surgeon conducted TUEP by THL or HoL in 10 patients respectively.The enucleation efficiency,the laser energy output and the electric parameters were recorded and analyzed.Results The data from both groups of surgeries were tested for normal distribution,and the t-test found that the difference in the enucleation efficiency between the two surgeries was not statistically significant(P=0.818),and the energy consumption indexes of the two devices were comparable.The difference in the total kilojoules of laser emission between the two lasers during surgery was not statistically significant(P=0.148),but the power consumption of the thulium laser was about one-tenth of that of the holmium laser(P＜0.001),suggesting that the former utilised electrical energy significantly more efficiently than the latter.The maximum current of the HoL was significantly higher than that of the TFL(P＜0.001),requiring a spe-cial high-power power outlet.Conclusion TFL was superior to HoL in terms of lower power consumption,higher en-ergy-efficient and electrical convenient in transurethral enucleation of the prostate.

Objective It compared the power consumption and electrical parameters between Thulium fiber laser devices(TFL)and Holmium laser devices(HoL)in transurethral enucleation of prostate(TUEP).Methods A sin-gle surgeon conducted TUEP by THL or HoL in 10 patients respectively.The enucleation efficiency,the laser energy output and the electric parameters were recorded and analyzed.Results The data from both groups of surgeries were tested for normal distribution,and the t-test found that the difference in the enucleation efficiency between the two surgeries was not statistically significant(P=0.818),and the energy consumption indexes of the two devices were comparable.The difference in the total kilojoules of laser emission between the two lasers during surgery was not statistically significant(P=0.148),but the power consumption of the thulium laser was about one-tenth of that of the holmium laser(P＜0.001),suggesting that the former utilised electrical energy significantly more efficiently than the latter.The maximum current of the HoL was significantly higher than that of the TFL(P＜0.001),requiring a spe-cial high-power power outlet.Conclusion TFL was superior to HoL in terms of lower power consumption,higher en-ergy-efficient and electrical convenient in transurethral enucleation of the prostate.