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*

To develop a framework for clinical teaching management (CTM) position competencies, and to initiate the preliminary application of this framework.

Cancer stem cells(CSCs)are a small group of cells found in tumors that have same self-renewing properties as nor-mal stem cells.In recent years,with continuous development of science and technology in various aspects,people's research on tumor diseases has been deepened.CSCs has been defined as a key factor in promoting tumor development,especially participating in pro-moting tumor recurrence,metastasis,chemotherapy resistance,etc.Currently,CD133 has become one of popular CSCs markers,and can be highly expressed in a variety of CSCs.CD133 is closely related to diagnosis of cancer diseases,and plays an important role in dignosis and drug targeting for gastric cancer,lung cancer,brain tumor,liver cancer,ovarian cancer and colorectal cancer.This article reviews structure,function,immune mechanism escape of CD133,signal pathway of CD133 in tumorigenesis,and correlation of CD133 with various tumors as well.

In order to meet the needs of the comprehensive development of life sciences and medicine,and fulfill the coher-ence and intersectionality of undergraduate experimental courses,it is necessary to break the teaching contents of conventional single experiment courses,and carry out the teaching reform of tumor comprehensive experimental course.Molecular biology and immuno-logy are two basic subjects which are closely related to the scientific research of life science,basic medicine and clinical medicine.Meantime,they are important sources for students to acquire skill training and scientific thinking as well.In this study,we try to inte-grate the experimental courses about the analysis and intervention of tumor-related genes based on the molecular biology and immunology technologies,facilitating to establish a new tumor comprehensive experimental course system.The course focuses on the development of students'logical thinking,and simulates the scientific research process through database screening,experimental operation,experi-mental report and paper writing,so as to significantly improve undergraduates'interest in scientific research and their ability to com-bine theory with practice,and cultivate students'rigorous scientific and innovative thinking ability as well as their ability to compre-hensively analyze and solve problems.It lays a solid foundation for future postgraduate related scientific research.At the same time,it is helpful to train teachers with multi-disciplinary knowledge reserves,and promote the coordinated development of scientific research through teaching.

A case of Streptococcus suis sepsis and streptococcal toxic shock syndrome diagnosed by metagenomic next-generation sequencing (mNGS) was presented. A 50-year old male patient visited Zengcheng Branch of Nanfang Hospital on June 25th, 2021. The patient developed fever, dizziness and shock with typical epidemiological history. mNGS revealed Streptococcus suis in blood sample. The diagnosis of Streptococcus suis sepsis and streptococcal toxic shock syndrome were made. Meropenem was given as empirical antibiotics. Antibiotics were adjusted to meropenem and clindamycin while Streptococcus suis was detecting by mNGS and downgraded to piperacillin/tazobactam and clindamycin when symptoms improved. The diagnosis was then confirmed by blood culture. The patient developed dry gangrene and sudden deafness in the later stage and was discharged after treatment. Compared with traditional diagnostic techniques, mNGS has advantages such as timeliness and accuracy, and plays a key role in the field of severe infections and rare pathogen infections. It is suggested that combining mNGS and traditional diagnostic techniques have the advantages for early diagnosis and early treatment.

Objective:To determine the effects of menopausal stage, age and other associated risk factors on symptoms of anxiety and depression among women in a community in Beijing.Methods:This study was a community-based prospective cohort. Participants who had transitioned through natural menopause, completed two or more depressive and anxiety symptoms evaluations, aged 35 to 64 years, and did not use hormone therapy were selected from the Peking Union Medical College Hospital aging longitudinal cohort of women in midlife to this analysis. The primary outcome variables were depressive and anxiety symptoms, assessed by hospital anxiety and depression scale (HADS). The generalized estimation equation was used in the statistical analysis.Results:Followed up from 2006 to 2014, 430 women and 2 533 HADS assessments were retained in the cohort. Depressive symptoms were more common than anxiety symptoms during all menopausal stages. The incidences of depressive and anxiety symptoms were 14.5% (19/191) and 3.1% (4/191) in the premenopausal -3 stage, respectively. The incidence increased in both menopausal transition and postmenopausal stage, with the highest incidence in the +1c stage [20.6% (155/751) and 8.8% (66/751), respectively]. However, these differences were not statistically significant (all P>0.05). Depressive symptoms were highest in the ≥60-<65 age group [20.8% (74/355)], and anxiety symptoms were highest in the ≥50-<55 age group [8.2% (62/754)]; but there were no statistical significances between different age groups and depressive and anxiety symptoms (all P>0.05). Multivariable analysis showed that high body mass index, low education status, and poor health status were independently associated with depressive symptoms (all P<0.05), and that poor health status, trouble falling asleep, and early awakening were independently associated with anxiety symptoms (all P<0.01). Conclusions:Depressive and anxiety symptoms are more common during menopausal transition and postmenopausal stage compared with reproductive stage. Depressive symptoms are more common than anxiety symptoms. To screen and assess depressive and anxiety symptoms in perimenopausal women is essential, especially for women with high risk factors.

Objective:To investigate the feasibility and clinical value of 4D flow magnetic resonance imaging (MRI) in evaluating hemodynamics of ischemic stroke patients with intracranial artery stenosis.Methods:Ischemic stroke patients with unilateral middle cerebral artery stenosis admitted from March 2017 to June 2018 in Beijing Tsinghua Changgung Hospital Stroke Center were prospectively enrolled. Time of flight magnetic resonance angiography was used to evaluate vascular stenosis, 4D flow MRI was used to measure net forward flow at the proximal of stenosis, and brain tissue perfusion was acquired simultaneously to validate flow.Results:A total of 33 patients with symptomatic middle cerebral artery stenosis were included [mean age: 56 years; male: 63.6% ( n=21)]. The flow rates among patients with stenosis of <30%, 30%-49%, 50%-69% and ≥70% were (3.56±1.08), (2.96±0.94), (3.72±0.60) and (2.50±1.03) ml/s individually, demonstrating a decreased flow in subjects with severe (≥70%) stenosis ( F=4.34, P=0.008). Further analysis about forward flow and brain tissue perfusion showed that the significant negative correlation between absolute flow rate or relative flow rate and relative time to peak could only be established in subjects with poor collateral (collateral score: 0-2), with r=-0.76 and -0.61 individually, both P<0.05. Conclusion:4D flow MRI could be used as a quantitative flow assessment in subjects with intracranial artery stenosis, and its association with distal brain tissue perfusion depends on collateral status.

Objective: To explore the therapeutic feasibility of uterus transplantation for uterine infertility. Methods: Retrospective analysis was performed for the diagnosis, treatment and pregnancy course of the first domestic case of uterus transplantation and the relevant literature reviewed. The recipient was a 22-year-old woman with a congenital absence of uterus and vagina. Previously she underwent vaginal reconstruction and the donor was her mother. The specific procedures included donor/recipient screening, ethical argumentation, assisted reproductive technology of obtaining frozen embryos, Vinci robot-assisted uterine procurement, orthotopic replacement & fixation of retrieved uterus, revascularization; immunoregulation & monitoring of transplanted uterine recipient, assisted reproductive technology after transplantation and gestational management. Results: The durations of donor and recipient surgeries were 360 and 530 min respectively. No complications of recipient or donor occurred during the perioperative period. First menstruation occurred at 40 days post-transplantation and regularly thereafter. Pregnancy occurred after embryo transfer at 31 months post-transplantation. No rejection episodes occurred after transplantation or during gestation. Caesarean delivery occurred near gestational week 34. The boy weighed 2000 grams at birth and the mother remained well. Conclusions In conjunctions with literature review, uterine infertility may be treated by modified uterus transplantation. And a new path is paved for healthy pregnancy of women with uterine infertility.

Objective: By analyzing the clinical features of patients with dengue fever in Guangzhou from 2015 to 2018 to furnish the reference evidences for the diagnoses and treatment of dengue fever. Methods: A total of 406 dengue fever patients admitted to Zhujiang hospital during 2015 to 2018 were analyzed for the clinical manifestations and laboratory examination results, retrospectively. ZIKV, CHIKV and the serotypes of DENV were detected in some samples. Results: DENV serotypes were tested in 96 dengue fever patients and 69 cases were positive. Among them, 58 cases (84.1%) were DENV-1, 10 cases (14.5%) were DENV-2, 1 case (1.5%) was DENV-3, DENV-4 was negative and no co-infection with different serotypes of dengue virus was found. Of all the 406 patients, 371 (91.4%) were diagnosed as dengue fever and 35 (8.6%) were severe cases. The most common manifestations included fever, weakness and rash. Significantly higher incidence (P<0.05) of bleeding, coughing, expectoration, vomiting and abdominal pain were found in severe dengue fever. The most common laboratory findings were leucopenia and thrombocytopenia. Significant increase(P<0.05) of total bilirubin, aspartate aminotransferase, serum creatinine, high-sensitivity C-reactive protein and procalcitonin were observed. ZIKV and CHIKV nucleic acids were tested in 380 dengue fever patients and the result were negative for both. Conclusions The incidence of dengue fever in Guangzhou increased in 2017 and 2018.Most cases of dengue fever were mild and DENV-1 was the dominant serotype.

Objective: To evaluate an assay permitting amplification of target 5′-untranslated region (5′-UTR) sequences directly from clinical specimens and distinction among serotypes of enterovirus (EV). Methods: A total of 518 rectal swabs and 148 nasal swabs tested positive by pan-enterovirus real-time PCR were collected. 5′-UTR and the viral protein 1 (VP1) gene fragments were amplified and sequenced separately for serotyping. The inconsistent samples by 5′-UTR and VP1 serotyping were further determined by using the serotype-specific RT-PCR. Results: A total of 553 (83.0%) samples were detected by 5′-UTR serotyping and 318 (47.7%) were detected by VP1 serotyping in all 666 positive specimens, and there was significant difference in the detection rates between two methods in rectal and nasal swabs (P<0.001). For the rectal swabs, the mainly detected serotypes were CoxA6 (217), CoxA16 (88), EVA71 (40), CoxA10 (28) and CoxA4 (27) by 5′-UTR serotyping. Compared with the VP1 serotyping, the sensitivity and specificity of 5′-UTR serotyping were 57.1%-100% and 67.4%-98.1% respectively, with varied consistence with serotypes (kappa value 0.214-0.283). For the nasal swabs, the most frequently detected serotype was EVD68, with the sensitivity of 100%, the specificity of 91.1%, and the poor consistence (kappa value 0.217). CoxA6, CoxA16, EVA71, CoxA10 and EVD68 were further confirmed by serotype-specific RT-PCR. Using VP1 serotyping combined with serotype-specific RT-PCR as a reference method , the effect of performance of 5′-UTR serotyping on diagnosis was increased. Conclusions The performances of 5′-UTR serotyping in enterovirus vary with serotypes. The application of 5′-UTR serotyping should be considered comprehensively according to the purpose of the study.