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*

Intervention in chronically activated microglia-mediated neuroinflammation is a novel approach to treat Alzheimer's disease (AD). The low permeability of the blood‒brain barrier (BBB) and non-selective distribution in the brain severely restrict AD drugs' disease-modifying efficacy. Here, an immunosuppressant TREM2-lowing antisense oligonucleotides (ASOs) and resveratrol co-loaded cationic liposome is developed as an immune reprogramming nanomodulator modified by acid-cleavable BBB-targeting peptide and microglia-targeting peptide (Res@TcMNP/ASO) for AD management. Res@TcMNP/ASO can enter brain endothelial cells via D-T7 peptides. Then D-T7 undergoes an acid-responsive cleavage, facilitating the escape of Res@MNP/ASO from endo/lysosomes to cross the BBB. The detached Res@MNP/ASO specifically targets M1-phenotype microglia via exposed MG1 peptides to prompt the simultaneous delivery of two drugs into activated microglia. This nanomodulator can not only restore the immune function of microglia through TREM2-lowing ASO but also mitigate the immune stimulation to microglia caused by reactive oxygen species (ROS) through resveratrol, thereby synergistically inhibiting the chronic activation of microglia to alleviate neuroinflammation in AD. Our results indicate that this combination treatment can achieve significant behavioral and cognitive improvements in late APP/PS1 mice.

Stearoyl-coenzyme A desaturase 1 (SCD1) catalyzes the rate-limiting step of de novo lipogenesis and modulates lipid homeostasis. Although numerous SCD1 inhibitors were tested for treating metabolic disorders both in preclinical and clinic studies, the tissue-specific roles of SCD1 in modulating obesity-associated metabolic disorders and determining the pharmacological effect of chemical SCD1 inhibition remain unclear. Here a novel role for intestinal SCD1 in obesity-associated metabolic disorders was uncovered. Intestinal SCD1 was found to be induced during obesity progression both in humans and mice. Intestine-specific, but not liver-specific, SCD1 deficiency reduced obesity and hepatic steatosis. A939572, an SCD1-specific inhibitor, ameliorated obesity and hepatic steatosis dependent on intestinal, but not hepatic, SCD1. Mechanistically, intestinal SCD1 deficiency impeded obesity-induced oxidative stress through its novel function of inducing metallothionein 1 in intestinal epithelial cells. These results suggest that intestinal SCD1 could be a viable target that underlies the pharmacological effect of chemical SCD1 inhibition in the treatment of obesity-associated metabolic disorders.

Objective To explore the changes and influencing factors in patients' gastrointestinal symptoms and food tolerance before and after laparoscopic sleeve gastrectomy(LSG),and to provide a reference for the development of targeted gastrointestinal symptoms management program.Methods A convenience sampling method was used to select 125 patients who underwent LSG in the bariatric and metabolic surgery department of a tertiary-level hospital in Xuzhou City from June to November 2023 for a prospective observational study.The general information questionnaire,food tolerance questionnaire and Gastrointestinal Symptom Rating Scale(GSRS)were used to investigate at preoperative,3 months after surgery,and 6 months after surgery.Two-factor repeated measures variance analysis and generalized linear mixed model(GLMM)was used to analyze the influencing factors of gastrointestinal symptoms.Results 116 valid questionnaires were collected,and the GSRS scores of LSG patients at 3 time points were 21.67±5.80,23.28±4.33,and 21.22±3.18 respectively;the incidence rates of food intolerance were 0,32.75％,and 28.45％respectively.The patients' symptoms of bowel sounds,dysphagia,constipation,and dry stool were worse after surgery than before surgery(all P＜0.05),and the symptoms of bad breath,diarrhea,loose stools,and the need to defecate immediately were alleviated compared with symptoms before surgery(all P＜0.05).GLMM results showed that short meal times,poor food tolerance,and high school/technical secondary school education were risk factors for increasing gastrointestinal symptoms(all P＜0.05).Conclusion LSG could increase the prevalence of gastrointestinal symptoms such as dysphagia,dyspepsia,constipation and food intolerance.Medical staff should pay attention to the assessment of gastrointestinal symptoms in LSG patients,especially for patients with short meal time and poor food tolerance,strengthen postoperative follow-up,build targeted treatment and care plan,and prevent and reduce such uncomfortable symptoms.

Objective To analyze the factors influencing the mobilization and collection of peripheral blood hematopoietic stem cells in patients with hematologic tumors,and to explore the predictive value of platelet counts in the process of autologous stem cell collection.Methods A total of 52 patients with hematologic tumors who underwent autologous hematopoietic stem cell transplantation in Affiliated Jinhua Hospital,Zhejiang University School of Medicine from September 2018 to March 2024 were selected.Binary Logistic regression analysis was used to explore the influencing factors of peripheral blood stem cell collection,and receiver operating characteristic(ROC)curve was used to determine the optimal cut-off value of platelet counts before collection.Results Among the 52 patients,36 patients had high-quality mobilization and 16 patients had non-high-quality mobilization.The number of chemotherapy cycles before collection and mobilization plan had significant effects on the number of CD34+cells collected,while age,gender,collection machine,and bone marrow involvement had no significant effects on the number of CD34+cells collected.The platelet counts in high-quality mobilization group were significantly higher than those in non-high-quality mobilization group(P＜0.05).Binary Logistic regression analysis showed that platelet counts before collection had a significant effect on the collection of peripheral blood stem cells(OR=0.975,95％CI:0.954-0.997,P=0.025).ROC curve results showed that the area under the curve of platelet counts prediction of stem cell quality collection was 0.732,the optimal cut-off value was 86×109/L,the sensitivity was 72.2％,and the specificity was 81.2％.Subgroup analysis showed that platelet transfusion had no significant effect on the number of CD34+cells.Conclusion The number of chemotherapy cycles before collection and mobilization plan can affect the number of autologous hematopoietic stem cells.The platelet counts before collection can help determine the best time for collection and improve the success rate of collection.

Objective:To observe the changes of growth parameters and glucose and lipid metabolism indexes in GHD children treated with rhGH for 2 years, and analyze the influence of sex and age on these indexes.Methods:Clinical data of children with 80 cases GHD admitted to the Endocrine and Nutrition Clinic of the Beijing Children's Hospital affiliated to the Capital Medical University from July 2016 to December 2022 were analyzed retrospectively. All patients were treated with rhGH. The growth parameters, growth factors, glucose metabolism and lipid metabolism indexes were collected and calculated before treatment and at 3, 6, 12, 18 and 24 months after treatment, the influence of sex and age on these indexes and the correlations between these indicators and height growth rate were analyzed. Independent-sample t-test was used to compare two groups with normal distribution, one-way ANOVA was used to compare multiple groups, and repeated measures ANOVA was used to compare the mean of each time point within groups. The nonparametric rank sum test was used for the comparison of non-normal distribution measurement data. Pearson correlation analysis was used to analyze the correlation between HGV and each index.Results:A total of 80 children were enrolled, 39 boys and 41 girls. Grouped by age, there were 20 in the 3.00-5.99 age group, 41 in the 6.00-9.99 age group, and 19 in the ≥10.00 age group. All patients after 24 months of treatment had a higher height ((135.13±13.17) cm), HtSDS (-0.73 (-1.04, -0.41)), body weight (29.25 (23.13, 35.00) kg), weight standard deviation score (WtSDS) (-0.44 (-1.03, 0.03)), and body mass index (BMI) (15.99 (14.90,16.92) kg/m 2) compared to before treatment ((115.44±12.87) cm, -2.11 (-2.57, -2.03), 20.00 (16.00,25.00) kg, -1.48 (-2.12, -0.89) and 15.30 (14.45, 16.21) kg/m 2) all increased, and the differences were statistically significant (all P<0.05). The increase in HtSDS in the group aged 3.00-5.99 (1.74±0.29) was higher than that in the group aged 6.00-9.99 (1.57±0.33) and ≥10.00 (1.39±0.45), and the difference was statistically significant ( F=4.84, P=0.010). All patients showed an increase in insulin-like growth factor 1 (IGF-1) (329.50 (268.00, 417.25) μg/L) and insulin-like growth factor binding globulin 3 (IGFBP-3) (6.27 (5.50,6.95) mg/L) after 24 months of treatment compared to before treatment (131.50 (96.48,177.25) μg/L, 4.07 (3.60,4.88) mg/L), with statistical significance (all P<0.05). After treatment for 3 months, 6 months, 12 months, 18 months, and 24 months, children aged ≥ 10.00 years old with IGF-1 (353.00 (221.00, 493.00), (414.84±147.91), 441.00 (287.00, 578.00), (421.68±138.30), 376.00 (290.00, 581.00) μg/L) were higher than these in 3.00-5.99 years old group (181.00 (151.25, 237.75), (216.30±68.48), 239.50 (216.75, 325.00), (284.30±89.12), 293.00 (245.25, 343.75)) μg/L and 6.00-9.99 age group (253.00 (193.50, 345.50), (294.59±90.37), 284.00 (217.50, 377.50), (325.76±90.04), 345.00 (265.00, 431.00) μg/L, the difference was statistically significant (all P<0.05). At 3 months, 6 months, 12 months, and 18 months of treatment, IGFBP-3 levels were observed in children aged ≥ 10.00 years old (6.15 (5.52, 6.46), (6.56±1.26), (6.78±1.33), (6.78±1.38) mg/L) higher than 3.00-5.99 years old group (4.69 (4.43,5.11), (5.18±0.63), (5.61±0.84), (6.08±1.00) mg/L) and 6.00-9.99 age group (5.51 (4.76, 6.35), (5.61±0.81), (5.72±0.78), (6.03±0.80) mg/L, the difference was statistically significant (all P<0.05). All children with HbA1C (5.40 (5.20, 5.58)%), fasting blood glucose (5.06 (4.76, 5.24) mmol/L), triglycerides (0.67 (0.53, 1.02) mmol/L), TyG index (2.24±0.48), and triglyceride/HDL-C ratio (1.05 (0.73, 1.50)) after 24 months of treatment compared to before treatment (5.10 (5.00, 5.28)%, 4.78 (4.51, 5.09) mmol/L, 0.57 (0.47, 0.72) mmol/L, (1.92±0.36), 0.86 (0.65, 1.08). The level of cholesterol increased, and the total cholesterol (3.74 (3.39, 4.31) mmol/L) decreased compared to before treatment (3.95(3.64, 4.54) mmol/L), with statistical significance (all P<0.05). Female patients had higher levels of triglycerides (0.79 (0.59, 1.09) mmol/L) and TyG index (2.31±0.49) than male patients (0.66 (0.53,0.89) mmol/L, (2.16±0.46)) after 18 months of treatment. The triglyceride/HDL-C at 12 months (1.10(0.67, 1.93)), 18 months (1.16(0.83, 1.68)), and 24 months (1.26 (0.79, 1.81)) of treatment ratio was also higher than male patients (0.76 (0.61, 1.09), 0.90 (0.72, 1.08), 0.98 (0.66, 1.30)). Female HDL-C levels at 18 months (1.52 (1.29,1.75) mmol/L) and 24 months (1.45(1.29,1.76) mmol/L) of treatment were significantly lower in males (1.72 (1.45, 1.84), 1.59 (1.43, 1.92) mmol/L) with statistical significance (all P<0.05). HGV was positively correlated with IGF-1 at 12 months ( r=0.243, P=0.030) , 18 months ( r=0.277, P=0.013) and 24 months ( r=0.289, P=0.009), and it was positively correlated with IGFBP-3 at 18 months ( r=0.242, P=0.030) and 24 months ( r=0.236, P=0.035), but it was negatively correlated with HDL-C at 18 months ( r=-0.331, P=0.003) and 24 months ( r=-0.281, P=0.012). Conclusions:RhGH can obviously improve HtSDS and WtSDS in GHD children. Growth factors, glucose metabolism and lipid metabolism should be monitored during the treatment. Especially for female patients (≥10.00 years old), we should closely monitor the indexes of glucose and lipid metabolism in order to avoid metabolic diseases.

Objective:To explore the efficacy and safety of negative-pressure wound therapy (NPWT) in treating infected wounds in orthopedic trauma patients.Methods:China National Knowledge Infrastructure, China Biomedical Literature Database, Wanfang Data Knowledge Service Platform, PubMed, Web of Science, Cochrane Library, and CINAHL were searched for randomized controlled trials (RCT) and cohort studies examining the impact of NPWT on wound healing in orthopedic trauma infections. The retrieval time was from the establishment of the databases to October 2024. RevMan 5.4 software was used for Meta-analysis. The patients were divided into two groups according to different treatment methods: the intervention group, treated with NPWT, and the control group, treated with conventional treatment. The observed indicators included clinical efficacy, wound healing quality, length of hospital stay, wound healing time, incidence of complications, secondary surgery rate, and duration of antibiotic use. Publication bias analysis was performed on the observed indicators through Begg and Egger tests.Results:A total of 13 studies were included, comprising 11 RCT and 2 cohort studies, involving a total of 3 538 patients, with 1 762 in the intervention group and 1 776 in the control group. The meta-analysis results indicated that the intervention group had better clinical efficacy ( OR=7.08, 95% CI 5.31, 9.45, P<0.01), higher wound healing quality ( MD=4.15, 95% CI 3.99, 4.32, P<0.01), shorter length of hospital stay ( MD=-13.38, 95% CI -14.39, -12.38, P<0.01), shorter wound healing time ( MD=-8.11, 95% CI -10.22, -6.00, P<0.01), lower incidence of complications, lower secondary surgery rate ( OR=0.22, 95% CI 0.09, 0.57, P<0.01), and shorter duration of antibiotic use ( MD=-7.61, 95% CI -8.06, -7.16, P<0.01) when compared with the control group. No significant publication bias was observed in the aforementioned indicators ( P>0.05). Conclusion:Compared with the conventional treatment, NPWT can enhance the clinical efficacy and wound healing quality of infected wounds in orthopedic trauma patients, shorten length of hospital stay and wound healing time, reduce the incidence of complications and secondary surgery rates, and shorten the duration of antibiotic use.

Objective:To explore the clinical characteristics and genetic etiology of a child with Oral-facial-digital syndrome type Ⅰ(OFDSⅠ).Method:A child with OFDSⅠ who received treatment at the Women and Children′s Hospital Affiliated to Ningbo University in March 2023 was selected as the study subject. A retrospective research method was used to collect the clinical data of the child. Peripheral venous blood samples were collected from the child, her parents and sister. Genomic DNA was extracted, and whole exome sequencing (WES) was performed. Candidate variants were validated using Sanger sequencing for familial verification. According to the Standards and Guidelines for the Interpretation of Sequence Variants developed by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines" ), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Ningbo University Affiliated Women and Children′s Hospital (Ethic No.: EC 2024-063).Results:The child was a prematurely born female with deformities of the oral cavity, fingers, and toes. She was admitted to the Neonatal Department of the Hospital where she was born due to shortness of breath 15 minutes after birth. The WES results indicated that the child has harbored a heterozygous c. 710dup(p.Y238Vfs*2) frameshifting variant of the OFD1 gene. Sanger sequencing confirmed that neither of the child′s parents nor her sister had carried the same variant. According to the ACMG guidelines, the variant was rated as pathogenic (PVS1+ PS4_Moderate+ PM2-Supporting+ PM6_Supporting+ PP4). Conclusion:Children with OFDSⅠ have clinical features such as oral, finger, and toe deformities. The c. 710dup(p.Y238Vfs*2) variant of the OFD1 gene probably underlay the OFDSⅠ in this child. Above result has enriched the mutational spectrum of the OFD1 gene.

This consensus was developed by the Orthodontic Society of the Chinese Stomatological Association to provide a systematic, scientific, and practical guideline for informed consent in orthodontic care. Orthodontic treatment is typically lengthy, highly individualized, and involves multiple factors such as growth and development, occlusal function, and facial esthetics. Rapid technological advances and diverse risk profiles make the traditional reliance on orthodontist experience or institutional templates insufficient to ensure patients′ full understanding and autonomous decision-making. To address this, the expert panel conducted extensive reviews of domestic and international guidelines, analyzed representative dispute cases, and performed multicenter patient-clinician surveys. Using a multi-round Delphi method, the group established a standardized informed consent framework covering the initial consultation, treatment, and retention phases. The consensus emphasizes that informed consent is not only a fundamental legal and ethical requirement but also a key step in building trust, improving patient compliance, and enhancing treatment satisfaction. Orthodontists should clearly and comprehensively explain treatment plans, potential risks, uncertainties, and associated costs, while respecting the autonomy of patients or guardians, and maintain continuous communication and dynamic evaluation throughout the treatment process. The release of this consensus provides unified and authoritative guidance for clinical orthodontics, helping to standardize informed consent, enhance its transparency, safeguard patient rights, reduce medical risks, and promote high-quality, sustainable development of orthodontic practice.

Objective To design,develop,and implement a specialized nurse training information management platform to enhance the efficiency of training management and improve the quality of training.Methods A platform development team was formed to construct the platform architecture and develop functional modules based on the entire process of specialized nurse training management and the needs of various users.The platform was officially launched in 2020.Data on platform usage from 2020 to 2023 were collected,and in 2023,satisfaction surveys were conducted among specialized nurse training managers and trainees to assess the platform's effectiveness.Results The specialized nurse training information management platform includes 5 major modules,namely the Chinese Nursing Association,professional committees,hospitals,teaching bases,and trainees.It also includes 4 information databases,namely specialized nurses,teaching experts,teaching bases,and mentor faculty.The platform enables full-process digital management,integrating trainee management,project management,teaching base management,and evaluation management.From 2020 to 2023,the number of users across various categories of the platform showed a significant upward trend.By 2023,the platform had been applied to 28 specialized nurse training programs across professional committees.The highest frequency of use was among specialized nurse training managers at teaching bases.The satisfaction scores for platform usage among professional committees,hospital nursing departments,and specialized nurse training managers at teaching bases were(83.67±7.75)(82.69±8.08)and(84.69±7.75),respectively.The platform usage satisfaction score among 8 704 trainees was(33.07±3.01).Conclusion The specialized nurse training information management platform is comprehensive and has received high satisfaction ratings from various users.The use of the platform helps to improve the effectiveness and quality of training.