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 Investigate the expression level of discs large homolog associated protein 5(DLGAP5)in oral squamous cell carcinoma(OSCC)and analyze its effects on cell proliferation,migration,invasion capacity,and the Warburg effect.Methods Bioinformatics analysis was performed to identify the potential therapeutic targets for OSCC.A total of 72 OSCC tissue samples and 40 adjacent non-cancerous tissue samples collected in the First Affiliated Hospital of Shihezi University from 2013 to 2024 were included,and the clinical pathological and prognostic data were collected from patients.Immunohistochemistry assay was applied to detect the protein expression of DLGAP5,and its association with clinical pathological features was analyzed.Kaplan-Meier survival curve was plotted for survival analysis,and Cox regression model was employed to analyze the prognostic factors.The expression of DLGAP5 at mRNA and protein levels was detected in HOK,SCC-9,SCC-15,SCC-25,and CAL-27 cell lines with RT-qPCR and Western blotting,respectively.Four small interfering RNAs(siRNAs)were designed to target the DLGAP5 sequence,and then based on the transfection efficiency,the sequence with optimal silencing effect was selected for subsequent functional studies.After DLGAP5 was silenced in the CAL-27 and SCC-15 cells,Western blotting was applied to detect the expression of hexokinase 2(HK2)and enolase 1(ENO1),CCK-8,scratch healing and Transwell assays were conducted to assess cell proliferation,migration,and invasion capabilities,and glucose,lactate,and ATP detection kits were utilized to determine the glycolytic metabolic levels in OSCC cells.Results Bioinformatics analysis indicates that DLGAP5 is a potential key therapeutic target for OSCC.Experimental validation demonstrated that DLGAP5 was highly expressed in both OSCC tissues and cells(P<0.05).Analysis of clinical pathology and prognostic data revealed that DLGAP5 expression level was significantly correlated with tumor TNM stage,lymph node metastasis,and differentiation grade in OSCC patients,and high DLGAP5 expression was associated with poor prognosis(P<0.05).DLGAP5 silencing resulted in significantly reduced expression of HK2 and ENO1,markedly decreased levels of glycolytic metabolites(P<0.05),and notably declined cell proliferation,migration,and invasion capabilities(P<0.05).Conclusion DLGAP5 is highly expressed in OSCC.Silencing DLGAP5 may inhibit OSCC cell proliferation,migration,and invasion by indirectly regulating the Warburg effect,and the molecule is associated with poor prognosis in the OSCC patients.

Objective To investigate extended high-frequency hearing in young adults and to analyse its char-acteristics.Methods A total of 230 freshmen(101 males and 129 females,aged 17-19 years old)from the class of 2023 at the Air Force Medical University underwent audiometric tests,including acoustic impedance,conventional frequency and extended high-frequency audiometry,and distortion product otoacoustic emissions(DPOAE).Ac-cording to the results of extended high-frequency audiometry,the students were divided into normal and abnormal groups,and the hearing thresholds at conventional frequencies were compared between the two groups.Results Of the 230 students,47.83％(110/230)showed abnormal extended high-frequency hearing.The hearing thresholds of the right ear were 1 to 3 dB higher than those of the left ear at most frequencies.The hearing thresholds of the ab-normal group were higher than those of the normal group in the conventional frequencies(P＜0.05).The difference in extended high-frequency thresholds between the two groups increased with higher frequency.Conclusion Ex-tended high-frequency hearing loss occurs earlier,and has a higher prevalence in young adults,and right ear hearing is worse than that of left ear.Extended high-frequency audiometry can be used as a predictive tool for detecting con-ventional frequency hearing loss.

Objective Radiotherapy plays a crucial role in the treatment of pediatric rhabdomyosarcoma.However,children face greater challenges than adults in maintaining precise body positioning during radiotherapy.This study aims to analyze and calculate the setup errors in children with head and neck rhabdomyosarcoma during radiotherapy,and determine the optimal clinical target volume-planning target volume(CTV-PTV)margin and organ-at-risk planning risk volume(OAR-PRV)margin.Methods A total of 102 pediatric patients with head and neck rhabdomyosarcoma who received radiotherapy using the Varian Edge linear accelerator were enrolled.All children were immobilized with a 5-point thermoplastic mold.During treatment,Varian cone-beam computed tomography(CBCT)images were acquired for setup verification in the first 3 fractions,followed by weekly CBCT verification thereafter.Setup errors were obtained in 6 directions:left-right(LR),superior-inferior(SI),anterior-posterior(AP),rotation around the X-axis(Pitch),rotation around the Y-axis(Roll),and rotation around the Z-axis(Rtn).Results A total of 791 CBCT images were acquired.The individual systematic errors in the LR,SI,and AP directions were 0.052,0.064,and 0.051 cm,respectively;the individual random errors in these 3 directions were 0.084,0.089,and 0.078 cm,respectively.According to the Stroom's formula in the ICRU-62 report,the calculated CTV-PTV margins in the LR,SI,and AP directions were 0.163,0.190,and 0.157 cm,respectively.Using the Van Herk formula,the CTV-PTV margins in the above 3 directions were 0.189,0.223,and 0.182 cm,respectively.The OAR-PRV margins calculated using the Mc Kenzie method were 0.110,0.128,and 0.105 cm in the LR,SI,and AP directions,respectively.Conclusion Based on the findings of this study,the CTV-PTV margins for pediatric head and neck rhabdomyosarcoma are within 0.3 cm,indicating that the 0.3 cm margin currently adopted by Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine is feasible.In addition,the OAR-PRV margins derived from this study are less than 0.2 cm,suggesting that the currently used 0.3 cm OAR-PRV margin can be reduced to 0.2 cm.This adjustment is beneficial for enhancing the protection of normal tissues while ensuring the treatment efficacy,thereby improving the accuracy and safety of radiotherapy.

Primary aldosteronism(PA)is the most common cause of secondary hypertension,yet its diagnosis remains under-recognized,with a high rate of missed diagnoses.This condition significantly impacts multiple systems,including the cardiovascular,renal,metabolic,and skeletal systems,resulting in notable complications.Patients with Klinefelter syndrome(KS)exhibit a markedly higher prevalence of metabolic disorders,which may further exacerbate cardiovascular and endocrine dysfunction.Here we report a patient who presented with refractory hypertension and an incidentally discovered adrenal mass,and was ultimately diagnosed with a left adrenal aldosterone-producing adenoma combined with KS.We provide a detailed description of the patient's clinical manifestations,biochemical indices,diagnostic process,and postoperative histopathological findings in order to enhance the understanding of PA and KS and their potential interconnections,which offers diagnostic insights to reduce misdiagnosis and missed diagnoses.

Objective To investigate extended high-frequency hearing in young adults and to analyse its char-acteristics.Methods A total of 230 freshmen(101 males and 129 females,aged 17-19 years old)from the class of 2023 at the Air Force Medical University underwent audiometric tests,including acoustic impedance,conventional frequency and extended high-frequency audiometry,and distortion product otoacoustic emissions(DPOAE).Ac-cording to the results of extended high-frequency audiometry,the students were divided into normal and abnormal groups,and the hearing thresholds at conventional frequencies were compared between the two groups.Results Of the 230 students,47.83％(110/230)showed abnormal extended high-frequency hearing.The hearing thresholds of the right ear were 1 to 3 dB higher than those of the left ear at most frequencies.The hearing thresholds of the ab-normal group were higher than those of the normal group in the conventional frequencies(P＜0.05).The difference in extended high-frequency thresholds between the two groups increased with higher frequency.Conclusion Ex-tended high-frequency hearing loss occurs earlier,and has a higher prevalence in young adults,and right ear hearing is worse than that of left ear.Extended high-frequency audiometry can be used as a predictive tool for detecting con-ventional frequency hearing loss.

Objective Radiotherapy plays a crucial role in the treatment of pediatric rhabdomyosarcoma.However,children face greater challenges than adults in maintaining precise body positioning during radiotherapy.This study aims to analyze and calculate the setup errors in children with head and neck rhabdomyosarcoma during radiotherapy,and determine the optimal clinical target volume-planning target volume(CTV-PTV)margin and organ-at-risk planning risk volume(OAR-PRV)margin.Methods A total of 102 pediatric patients with head and neck rhabdomyosarcoma who received radiotherapy using the Varian Edge linear accelerator were enrolled.All children were immobilized with a 5-point thermoplastic mold.During treatment,Varian cone-beam computed tomography(CBCT)images were acquired for setup verification in the first 3 fractions,followed by weekly CBCT verification thereafter.Setup errors were obtained in 6 directions:left-right(LR),superior-inferior(SI),anterior-posterior(AP),rotation around the X-axis(Pitch),rotation around the Y-axis(Roll),and rotation around the Z-axis(Rtn).Results A total of 791 CBCT images were acquired.The individual systematic errors in the LR,SI,and AP directions were 0.052,0.064,and 0.051 cm,respectively;the individual random errors in these 3 directions were 0.084,0.089,and 0.078 cm,respectively.According to the Stroom's formula in the ICRU-62 report,the calculated CTV-PTV margins in the LR,SI,and AP directions were 0.163,0.190,and 0.157 cm,respectively.Using the Van Herk formula,the CTV-PTV margins in the above 3 directions were 0.189,0.223,and 0.182 cm,respectively.The OAR-PRV margins calculated using the Mc Kenzie method were 0.110,0.128,and 0.105 cm in the LR,SI,and AP directions,respectively.Conclusion Based on the findings of this study,the CTV-PTV margins for pediatric head and neck rhabdomyosarcoma are within 0.3 cm,indicating that the 0.3 cm margin currently adopted by Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine is feasible.In addition,the OAR-PRV margins derived from this study are less than 0.2 cm,suggesting that the currently used 0.3 cm OAR-PRV margin can be reduced to 0.2 cm.This adjustment is beneficial for enhancing the protection of normal tissues while ensuring the treatment efficacy,thereby improving the accuracy and safety of radiotherapy.

Primary aldosteronism(PA)is the most common cause of secondary hypertension,yet its diagnosis remains under-recognized,with a high rate of missed diagnoses.This condition significantly impacts multiple systems,including the cardiovascular,renal,metabolic,and skeletal systems,resulting in notable complications.Patients with Klinefelter syndrome(KS)exhibit a markedly higher prevalence of metabolic disorders,which may further exacerbate cardiovascular and endocrine dysfunction.Here we report a patient who presented with refractory hypertension and an incidentally discovered adrenal mass,and was ultimately diagnosed with a left adrenal aldosterone-producing adenoma combined with KS.We provide a detailed description of the patient's clinical manifestations,biochemical indices,diagnostic process,and postoperative histopathological findings in order to enhance the understanding of PA and KS and their potential interconnections,which offers diagnostic insights to reduce misdiagnosis and missed diagnoses.

Abstract Background and aims Hepatic ischemia-reperfusion injury (HIRI) is a major contributor to liver dysfunction and failure, particularly in the context of liver transplantation. Its pathogenesis is primarily driven by ferroptosis, oxidative stress, and mitochondrial dysfunction. Given the interplay among these mechanisms through redox imbalance and disrupted energy metabolism, nicotinic acid (NA)—recognized for its antioxidative and metabolic regulatory properties—emerges as a promising therapeutic candidate. This study aims to investigate the protective effects of NA on HIRI and elucidate its underlying mechanisms. Methods An HIRI model in mice and a hypoxia/reoxygenation (H/R) model in primary hepatocytes were established to evaluate the effects of NA treatment on oxidative stress. NA was administered prior to model induction. N-acetylcysteine (NAC) was used as a comparator. Comprehensive assessments of ferroptosis, oxidative stress, mitophagy, and mitochondrial biogenesis markers were conducted using Western blotting, immunohistochemistry, immunofluorescence, and biochemical assays. Results NA pretreatment reduced serum alanine aminotransferase, aspartate aminotransferase, and lactate dehydrogenase (LDH) levels, suppressed inflammation by decreasing neutrophil infiltration and macrophage activation, and mitigated oxidative stress by lowering reactive oxygen species (ROS) and malondialdehyde (MDA) levels. It enhanced antioxidant defenses, inhibited ferroptosis, and improved mitochondrial health through increased mitophagy, mitochondrial biogenesis, and mitochondrial permeability transition pore (mPTP) stabilization, leading to enhanced ATP production and mitochondrial function in HIRI. Conclusions NA improves mitochondrial function by promoting mitophagy and mitochondrial biogenesis, which reduces ferroptosis and oxidative stress, thereby alleviating HIRI.

Objective: To analyze the associations among body mass index (BMI), learning screen/gaming screen exposure and executive function in preschool children in Anhui Province, so as to provide a basis for promoting the development of executive function in preschool children. Methods: In June 2022, a stratified cluster sampling and convenience sampling methods were used to survey 3 534 mothers of preschool children in Wuhu City, Luan City, and Fuyang City, Anhui Province. The Behavior Rating Inventory of Executive Function-Preschool Version (BRIEF-P) was used to assess the preschool childrens executive function abnormalities. Binary Logistic regression was conducted to examine the relationships among BMI, learning screen/gaming screen exposure, and their combined effects on executive function abnormalities. Results: The detection rate of abnormal executive function in preschool children was 9.65%. Logistic regression analysis showed that after adjusting for the confounding factors such as pregnancyinduced hypertension, primary caregivers, family per capita monthly income and family structure, the risk of abnormal executive function of children in overweight/obesity group and high learning screen/gaming screen exposure group increased significantly (overweight/obesity:OR=1.78, 95%CI=1.31-2.42, learning screen exposure:OR=1.48, 95%CI=1.18-1.86, gaming screen exposure:OR=1.50, 95%CI=1.18-1.91,P<0.05). Compared with children with normal BMI and low learning screen/gaming screen screen exposure, those with both overweight/obesity and high learning screen/gaming screen exposure had a significantly greater risk of executive function abnormalities (OR=2.07, 95%CI=1.29-3.31; OR=2.42, 95%CI=1.59-3.68,P<0.05). Conclusions Overweight/obesity and high learning screen/gaming screen exposure are important risk factors for executive function abnormalities in preschool children. Therefore, actively guiding preschool children to develop healthy life habits to promote the normal development of their executive functions is essential.