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*

Aim To investigate the effect of Xuefu Zhuyu decoction on transforming growth factor-β1(TGF-β1 ) -induced endothelial-to-mesenchymal transition (EndMT) of pulmonary microvascular endothelial cells ( PMVEC), and further analyze the mechanism related to the TGF-β1/Smad signaling pathway. Method To construct an EndMT cell model, PMVEC was treated with TGF-β1 (5 μg · L

Objective To optimize the oxygen therapy regimens for infants with pulmonary diseases during bronchoscopy.Methods A prospective randomized,controlled,and single-center clinical trial was conducted on 42 infants who underwent electronic bronchoscopy from July 2019 to July 2021.These infants were divided into a nasal cannula(NC)group and a modified T-piece resuscitator(TPR)group using a random number table.The lowest intraoperative blood oxygen saturation was recorded as the primary outcome,and intraoperative heart rate and respiratory results were recorded as the secondary outcomes.Results Compared with the NC group,the modified TPR group had a significantly higher level of minimum oxygen saturation during surgery and a significantly lower incidence rate of hypoxemia(P<0.05).In the modified TPR group,there were 6 infants with mild hypoxemia,2 with moderate hypoxemia,and 1 with severe hypoxemia,while in the NC group,there were 3 infants with mild hypoxemia,5 with moderate hypoxemia,and 9 with severe hypoxemia(P<0.05).The modified TPR group had a significantly lower incidence rate of intraoperative respiratory rhythm abnormalities than the NC group(P<0.05),but there was no significant difference in the incidence rate of arrhythmias between the two groups(P>0.05).Conclusions Modified TPR can significantly reduce the risk of hypoxemia in infants with pulmonary diseases during electronic bronchoscopy,and TPR significantly decreases the severity of hypoxemia and the incidence of respiratory rhythm abnormalities compared with traditional NC.

Pulmonary hypertension(PH)is a type of progressive cardiovascular disease or clinical syndrome. Its pathological mechanism is complex. The existing clinical drugs cannot well inhibit the progression of the disease. Traditional Chinese Medicine(TCM)has unique advantages in the treatment of PH due to its synergistic effect of multiple components and multiple targets. Recent studies have found that the TCM of promoting blood circulation and removing blood stasis can play a significant role in the treatment of PH, such as dilating pulmonary blood vessels, improving endothelial function, and relieving right heart failure. This article briefly summarizes and discusses the therapeutic effect and mechanism of TCM that can promote blood circulation and remove blood stasis in treatment of PH.

Child ; Humans ; Chromosomes, Human, Pair 16 ; Leukemia, Myeloid, Acute ; Neoplasms, Multiple Primary/genetics* ; Oncogene Proteins, Fusion/genetics* ; RNA-Binding Protein FUS/genetics* ; Sarcoma, Myeloid/genetics* ; Transcriptional Regulator ERG/genetics* ; Translocation, Genetic

Objective:To investigate the clinical, neuropsychological, and neuroimage characteristics in patients with corticobasal syndrome (CBS), and to elucidate the exact diagnosis of CBS patients.Methods:Twelve CBS cases admitted to the Department of Neurology, Huashan Hosiptal,Fudan University from April 2019 to July 2021 were retrospectively enrolled in this study. Those data, including clinical features (demographic data and clinical characteristics of cortical dysfunction and movement disorder), neuropsychological assessment [Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) scales score], brain magnetic resonance imaging (MRI) and multi-mode positron emission tomography (PET)/CT, were collected and carefully reviewed. Exact diagnosis of these patients was given according to the disease diagnosis criteria.Results:Cortical dysfunction and asymmetrical movement disorders were found in all cases, with poor response to levodopa. Patients suffered from cognitive impairment (MMSE score 16.16±9.82, MoCA score 13.44±7.35). The cranial MRI demonstrated significant asymmetric atrophy of frontal and parietal lobes, especially in the pre- and post-central gyrus. Fluorodeoxyglucose PET of 12 patients showed asymmetric frontal lobe and basal ganglia (especially caudate and putamen) hypometabolism (obviously on the contralateral side of the affected limb). Tau PET was implemented in 11 patients and displayed that abnormal tau protein deposition was positive in the cortex and/or subcortex in all patients. Of the 4 cases, who completed amyloid PET, amyloid protein deposition was positive in the cortex of 2 patients. As a result, 6 patients were diagnosed as progressive supranuclear palsy, 1 patient was diagnosed as corticobasal degeneration, and 5 patients were diagnosed as Alzheimer′s disease.Conclusions:The etiology of CBS is heterogeneous. The combination of clinical manifestation, cranial MRI and multi-mode PET/CT helps the differential diagnosis of CBS.

OBJECTIVE: To investigate the effects of MetS on the prognosis of patients with clear cell renal cell carcinoma (ccRCC). METHODS: Clinical and pathological data and the laboratory test of ccRCC 342 patients with diverticular stones who underwent ccRCC who underwent radical or partial nephrectomy were retrospectively collected and analyzed.The patients were divided into MetS group and non-MetS group, and the subgroups were defined according to the tumor size. The overall survival (OS), cancer-specific survival (CSS), and progression-free survival (PFS) of the two groups were analyzed by univariate Cox analysis, and the subgroup analyses were also performed. Kaplan-Meier survival curve and survival analysis for OS, CSS, and PFS of the two groups and the subgroups were conducted. RESULTS: Univariate Cox analysis showed that MetS was a protective factor of postoperative OS [hazard ratio (HR)=0.551, 95%CI: 0.321-0.949, P=0.031], CSS (HR=0.460, 95%CI: 0.234-0.905, P=0.025), and PFS (HR 0.585, 95%CI: 0.343-0.998, P=0.049) in the patients with ccRCC. In the subgroup with tumor size≤4 cm, MetS was not associated with postoperative OS (HR=0.857, 95%CI: 0.389-1.890, P=0.702), CSS (HR=1.129, 95%CI: 0.364-3.502, P=0.833), and PFS (HR=1.554, 95%CI: 0.625-3.864, P=0.343). In the subgroup with tumor size>4 cm, Mets was a protective factor of postoperative OS (HR=0.377, 95%CI: 0.175-0.812, P=0.013), CSS (HR=0.280, 95%CI: 0.113-0.690, P=0.006), and PFS (HR=0.332, 95%CI: 0.157-0.659, P=0.002); Obesity was a protective factor of postoperative CSS (HR=0.464, 95%CI: 0.219-0.981, P=0.044), and PFS (HR=0.445, 95%CI: 0.238-0.833, P=0.011). Kaplan-Meier survival analysis showed that the long-term survival of patients with MetS was better than those without MetS in OS (P=0.029), CSS (P=0.021), and PFS (P=0.046); for the subgroup with tumor size≤4 cm, there was no significant difference in postoperative OS (P=0.702), CSS (P=0.833), and PFS (P=0.339) between patients with and without MetS; For the subgroup with tumor size>4 cm, the OS (P=0.010), CSS (P=0.003), and PFS (P=0.001) of patients with MetS were better than those without MetS. CONCLUSION MetS was a protective factor of postoperative OS, CSS, and PFS in the patients with ccRCC, which was more obvious in subgroup with tumor size>4 cm. And obesity, the component of MetS, was correlated with postoperative OS and CSS.
Carcinoma ; Carcinoma, Renal Cell/surgery* ; Humans ; Kidney Neoplasms/pathology* ; Metabolic Syndrome/complications* ; Obesity ; Prognosis ; Retrospective Studies

OBJECTIVE: To investigate the gene mutation in adult patients with B-ALL and its influence on clinical prognosis. METHODS: Clinical data of 226 adult patients with B-ALL were retrospectively analyzed in the period from August 2011 to February 2018. The incidence of gene mutation in all patients were detected, and the influence of mutation gene on clinical prognosis were estimated. Cox regression model were used to evaluate the independent prognostic factors. RESULTS: 208 (92.04%) of 226 patients showed gene mutations, and the median mutation number was 2 (0-8). Among them, 54 cases (23.89%) showed 14 or more mutations. The top five mutation types of all patients were SF1, FAT1, MPL, PTPNII and N-RAS respectively. The median OS and median RFS times of 226 patients were 27.0 (5.5-84.0) months and 22.5 (0-81.0) months respectively. The OS and RFS times of Ph CONCLUSION Gene mutations are common in all adult B-ALL patients, and the clinical prognosis of patients with JAK and epigenetics-related signaling pathway mutations is worsen, while the WBC level closely relates to the clinical prognosis of the patients.
Adult ; Humans ; Mutation ; Patients ; Prognosis ; Proportional Hazards Models ; Retrospective Studies

Inflammatory bowel disease(IBD) is a non-specific and chronic recurrent autoimmune disease that involves the gastrointestinal tract. Clinical symptoms of intestinal bleeding, diarrhea, and weight loss threat to human health and induce colorectal cancer. The pathogenesis included living environment, genetic factors, immune cell infiltration and immune stress, weakened mucosal barrier defense and intestinal flora imbalance. At present, clinical treatment drugs mainly include aminosalicylic acid, corticosteroids, immunosuppressants, biological agents, etc., in view of the disadvantages of poor therapeutic effect and expensive price. The active ingredients of traditional Chinese medicine(TCM) in the treatment IBD have various biological activities and multiple targets such as anti-inflammatory, antibacterial, anti-tumor and immune regulation. This article summarized the application and the research progress in protecting intestinal epithelial barrier, maintaining intestinal microbial homeostasis, inhibiting causative factors, and regulating Th1/Th17/Treg balance about TCM in the treatment of IBD. The review provided new ideas for further development of the new drugs on the mechanism based on active ingredients of TCM in IBD treatment.
Humans ; Inflammatory Bowel Diseases ; therapy ; Intestinal Mucosa ; drug effects ; physiopathology ; Medicine, Chinese Traditional

Objective To investigate the status of mental health in preschool children of Yangzhou city, and to explore the effect of home environment. Methods A total of 2 531 children from 7 kindergartens were selected by random cluster sampling. Questionnaire (including SDQ tests) was used to analyse the status and characteristics of mental health. Results The rate of children with mental disorder was 6.4%, the most prominent problem was peer relationship difficulty (17.8%), followed by hyperactivity/inattention (13.7%), prosocial behavior (9.4%), conduct problems (7.0%) and emotional problems (5.7%). Except for emotional symptoms, the detection rates of all other investigated problems among boys were higher than those among girls. Logistic regression analysis showed that the low level of mother's education (OR=1.85, 95%CI:1.04-3.29) and the joint family (OR=1.81, 95%CI:1.19-2.75) were risk factors, and gender of girl was protective factor (OR=0.71，95%CI：0.51-0.98). Conclusions The rate of mental disorder is low, but hyperactivity in boys and emotional problems in girls are quite popular, especially in children who have mother with low level of education or live in the joint family.