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.

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*

Objective To investigate the functional changes of oligodendrocytes in a mouse model of cognitive impairment induced by microwave radiation and the mechanism.Methods C57BL/6N male mice were exposed to S-band microwave at 2.856 GHz and 8 mW/cm2 for 15 min.The rectal temperature of mice was monitored by an optical fiber thermometer during microwave radiation.The changes of autonomous exploration behavior and learning and memory ability of mice on the 1st and 7th days after microwave radiation were detected via the open field test and novel object recognition test.Immunofluorescence was used to detect the expression and distribution of neuroglia-2 proteoglycan(NG2)and myelin basic protein(MBP)in the hippocampus of mice on the 1st and 7th days after radiation.Clemastine fumarate,a drug that promoted the maturation of oligodendrocyte precursor cells was administered by gavage,and the expression levels of brain-derived neurotrophic factor(BDNF)and fibroblast growth factor 2(FGF2)in hippocampal tissues were detected by radioimmunoassay at 1 and 7 days after radiation.The changes of myelin sheath structure an 1 and 7 days after radiation were observed by transmission electron microscopy.The effects of clemastine fumarate on learning and memory impairment induced by microwave exposure in mice were assessed via open field and new object recognition experiments.Results Under the experimental conditions,the rectal temperature in mice caused by microwave radiation increased by less than 1 ℃,which was within the thermal safety range of the body.The open field test showed that compared with the control group,the microwave radiation group didn't change significant in terms of movement speedon the 1st and 7th days,but the time spent exploring in the central area was significantly reducedon the 1st day after radiation(P＜0.05).In the novel object recognition test,the indexes of the mice on the 1st day were significantly reduced(P＜0.05),indicating that the anxiety like behavior and cognitive function of the mice were impaired after microwave radiation.Compared with the control group,the proportion of NG2+area in the hippocampus was significantly decreased(P＜0.05)in the microwave radiation group,while that of MBP+area hardly changed on the 1st day after microwave radiation(P＞0.05).The expression level of oligodendrocyte related BDNF in the hippocampus was significantly decreased(P＜0.05).The myelin of the corpus callosum was broken,and the myelin g ratio was significantly increased(P＜0.05),suggesting that micro wave radiation could reduce the number of oligodendrocyte precursors and damage the secretion and myelin function of oligodendrocyte.Compared with the radiation group,the expression levels of BNDF and FGF2 in the radiation combined with clemastine fumarate group were up-regulated,the myelin g ratio was significantly decreased on the 1st day after radiation(P＜0.05),and the novel object recognition index was significantly increased(P＜0.05).Conclusion Pulsed microwave radiation below the body's fever threshold can cause cognitive dysfunction and other brain damage in mice.The impaired secretion and myelin function of oligodendrocytes and the decreased self-repair ability are the important mechanisms of cognitive dysfunction induced by microwave radiation.

Objective To investigate the effects of long-term radiofrequency(RF)radiation at 2.65 GHz on behavior,inflammatory response,and intestinal microecology in mice in order to provide a basis for the safety assessment of long-term RF exposure.Methods One hundred and eight male C57BL/6N mice(17～21 g,6～8 weeks old)were randomly assigned to a control group(Con)and a RF exposure group.The mice of the RF exposure group were subjected to whole-body uniform exposure to 2.65 GHz RF radiation in an electromagnetic reverberation chamber for 3 h/day for 28 consecutive days.RF field distribution and changes in core body temperature were monitored using an electromagnetic radiation analyzer and a fiber-optic temperature probe,respectively.Cognitive function was assessed using the Y-maze and novel object recognition(NOR)test.Anxiety-like behaviors were evaluated through open field test(OFT)and elevated plus maze(EPM),while depressive-like behaviors were examined with sucrose preference test(SPT)and tail suspension test(TST).HE staining was used to observe the histopathological changes in mouse tissues.Radioimmunoassay(RIA)was employed to detect the expression of pro-inflammatory cytokines,TNF-α and IL-1 β,as well as anti-inflammatory cytokines,IL-4 and IL-10 in the serum,brain,jejunum,and spleen samples.Additionally,metagenomic sequencing was performed to assess alterations in the gut microbiota composition.Results Long-term RF radiation led to a maximal increase of 0.59℃in the core body temperature,but had no significant effects on cognitive function,anxiety-like behaviors,or depressive-like behaviors,or apparent damage of the hippocampal or jejunal tissues in the exposed mice.However,RF exposure significantly up-regulated the expression of the pro-inflammatory cytokine TNF-α in serum(P<0.05),and did not significantly alter the concentrations of other cytokines(IL-1β,IL-4,IL-10),caused significant decrease in α-diversity of the intestinal microbiota(P<0.01),with reduced relative abundances of Ligilactobacillus murinus and Acetatifactor muris(P<0.05),while elevated abundances of Lachnospiraceae bacterium(P<0.01).Conclusion Long-term exposure to 2.65 GHz RF radiation induces systemic inflammatory responses and disrupts gut microbiota homeostasis in mice.

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:To investigate the effects of 2 650 MHz radiofrequency (RF) exposure on the behavior and neurotransmitter release of mice.Methods:Adult male C57BL/6N mice were divided into a normal control (CON) group and a radiofrequency radiation (RFR) group using the random number table method. The mice in the RFR group were subjected to single-dose whole-body exposure to a uniform 2 650 MHz RF electromagnetic field for 3 h. During the RF exposure, the field strength in the effective working area of the RF radiation platform was measured using an electromagnetic radiation analyzer, and the changes in the anal temperature of the mice were monitored using an optical fiber thermometer. Moreover, the changes in the cognition, social interaction, and emotion of the mice were determined through the new object recognition test, social preference test, and open field test. Finally, the changes in the hippocampal neurotransmitter release levels of the mice were detected using microdialysis sampling and mass spectrometry, and the changes in the hippocampal tissue structure and ultrastructure were observed via microscopy.Results:Under the test conditions, RF radiation improved the anal temperature of the mice, with a maximum increasing amplitude of 0.61℃, falling within the range of thermal safety. The mice in the RFR group experienced a significant decrease in the frequency and time for exploring new objects ( t=4.50, 2.53, P < 0.05) in the new object recognition test, a significant decrease in the frequency ( t=0.08, P<0.01) and time ( t=0.03, P<0.05) for exploring other mice in the social preference test, and no significant change in the frequency and time for exploring the central area ( P > 0.05) in the open field test. Compared to the CON group, the RFR group showed an increase in the release of 5-hydroxytryptamine (5-HT) ( t=-2.56, P < 0.05) and a decrease in the release of acetylcholine (ACh) ( t=2.21, P < 0.05), no significant difference in the release of glutamate (Glu) and γ-aminobutyric acid (GABA) ( P > 0.05), and no evident damage to the hippocampal tissue and structure and synaptic ultrastructure. Conclusions:2 650 MHz RF radiation may induce cognitive impairment and abnormal social preference in mice, which is attributed to neuronal dysfunctions and neurotransmitter release disorders under RF exposure.

Objective:To evaluate the clinical efficacy of acupuncture in the treatment of anxiety state in patients with primary insomnia(PI). Methods:Randomized controlled trials of acupuncture treatment for PI patients with an anxiety state in Web of Science,Cochrane Library,PubMed,Excerpta Medica Database(EMBASE),China National Knowledge Infrastructure(CNKI),Wanfang Data Knowledge Service Platform(Wanfang),and Chongqing VIP Database(VIP)were retrieved by computer.The retrieval time was from each database's inception to December 30,2022.Data extraction and evaluation were performed for the included studies.The Cochrane risk of bias assessment tool was used to assess the risk of bias in each article.Meta-analysis of valid data was performed using the RevMan 5.4 software.If the outcome indicator was a categorical variable,relative risk(RR)was used as the effect size.If it was a continuous variable,mean difference(MD)was used to calculate the effect size.Each effect size was expressed as a 95%confidence interval(CI).P<0.05 was considered to indicate a statistically significant difference. Results:A total of 18 studies were included,comprising a total of 1198 patients.The findings of the meta-analysis showed that electroacupuncture had a significant advantage in improving the Hamilton anxiety scale(HAMA)score than benzodiazepines[MD=-1.61,95%CI(-2.17,-1.06),P<0.001].Acupuncture was superior to sham acupuncture[MD=-14.90,95%CI(-20.39,-9.41),P<0.001]and benzodiazepines[MD=-3.39,95%CI(-4.67,-2.12),P<0.001]in reducing the self-rating anxiety scale(SAS)score.Acupuncture was superior to sham acupuncture in reducing the insomnia severity index(ISI)score[MD=-5.61,95%CI(-6.63,-4.89),P<0.001].Acupuncture was superior to benzodiazepines[MD=0.84,95%CI(-1.42,-0.25),P=0.005]and sham acupuncture[MD=-8.39,95%CI(-8.39,-7.86),P<0.001]in improving the Pittsburgh sleep quality index(PSQI)score.Acupuncture had a better effective rate than benzodiazepines[RR=1.16,95%CI(1.08,1.25),P<0.001]and sham acupuncture[RR=8.94,95%CI(4.63,17.25),P<0.001]in treating PI. Conclusion:Acupuncture or electroacupuncture has certain therapeutic advantages over benzodiazepines and sham acupuncture in the treatment of anxiety in PI patients.However,more high-quality randomized controlled trials are needed for further verification.

Objective To explore the mechanism of quercetin in the treatment of breast cancer with depressive features using network pharmacology and animal experiments.Methods Network pharmacology and bioinformatics methods were used to predict the key targets and mechanisms of quercetin in the treatment of breast cancer with depressive characteristics.The predicted results were verified by animal experiments.A mouse model of breast cancer with depressive characteristics was constructed,and quercetin intervention was performed after grouping.The depression of mice was evaluated by open field test.The tumor volume and tumor mass were measured.The expression of Ki-67 in tumor tissue was detected by immunohistochemical staining.The expressions of tumor necrosis factor α(TNF-α),interleukin 6(IL-6),p53,Caspase-3 and B-cell lymphoma/leukemia 2(Bcl-2)in tumor tissue were detected by Western Blot.Terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling(TUNEL)method was used to detect the apoptosis of tumor cells.Results In the breast cancer model group with depressive characteristics,the total movement distance in the open field test and the ratio of residence time in the central area of the open field test were decreased,the tumor volume and tumor mass were significantly increased,and Ki-67 expression level in the tumor tissue was significantly increased,the expression levels of TNF-α,IL-6,p53 and Caspase-3 in the tumor tissue were decreased and the expression level of Bcl-2 was increased,as well as the rate of TUNEL positive cells was decreased,the differences being statistically significant compared with the control group(P＜0.01 or P＜0.001).Compared with the model group,the above indexes were significantly reversed in the quercetin group(P＜0.01 or P＜0.001).Conclusion Quercetin can effectively inhibit the progression of breast cancer with depressive characteristics in mice,and its mechanism is related to the regulation of TNF,IL6,TP53,CASP3,BCL2 and other targets to promote tumor cell apoptosis.

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.