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*

Complex brain diseases seriously endanger human health, and early diagnostic biomarkers and effective treatments are currently lacking. Due to ethical constraints on human research, establishing monkey models is crucial to address these issues. With the rapid development of technology, transgenic monkey models of a range of brain diseases, especially autism spectrum disorder (ASD), have been successfully established. However, to establish practical and effective brain disease models and subsequently apply them to disease mechanism and treatment studies, there is still a lack of a standard tool, i.e., a system for collecting and analyzing the daily behaviors of brain disease model monkeys. Therefore, with the goal of undertaking a comprehensive and quantitative study of behavioral phenotypes, we established a standard daily behavior collection and analysis system, including behavioral data collection protocols and a monkey daily behavior ethogram (MDBE) for rhesus and cynomolgus monkeys, which are the most commonly used non-human primates in model construction. Then, we used ASD as an application example after referring to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision (DSM-5-TR), which is widely used in clinical disease diagnosis to obtain ASD core clinical symptoms. We then established a sub-ethogram (ASD monkey core behavior ethogram (MCBE-ASD)) specifically for quantitative assessment of the core clinical symptoms of an ASD monkey model based on MDBE. Subsequently, we demonstrated the high reproducibility of the system.
Animals ; Autism Spectrum Disorder ; Macaca mulatta ; Disease Models, Animal ; Behavior, Animal ; Macaca fascicularis ; Male ; Humans

The purpose of this study was to improve the ability to visualize and diagnose congenital nephrogenic diabetes insipidus (CNDI). The clinical manifestations, laboratory examination findings, imaging features and treatment outcomes of 22 patients with CNDI admitted to the First Affiliated Hospital of Zhengzhou University from May 2013 to May 2020 were retrospectively analyzed. Among the 22 patients with CNDI, 86.4% (19 cases) were male. The age of the 22 patients ranged from 2 months to 47 years old, in which 20 cases were younger than 30 years old and 2 cases were older than 30 years old. The clinical manifestations were polydipsia and polyuria, accompanied with various degrees of fever, defects in growth and development, and increased serum creatinine in some patients. Fifteen patients (68.2%) had different degrees of bilateral kidney and ureteral hydronephrosis, and increased residual urine volume in the bladder. Pituitary magnetic resonance imaging (MRI) enhanced scan showed that the high signal intensity in the posterior pituitary lobe was not detectable in 5 cases (22.7%), and blurred in 6 cases (27.3%). Seven tested patients were all found AVPR2 gene mutation. For patients with suspected CNDI, water-inhibiting vasopressin test and genetic testing should be performed in time so as to confirm diagnosis and treat as early as possible.

Objective:To explore the effect of breastfeeding intervention scheme based on co-parenting theory on the breastfeeding of primiparas.Methods:The convenient sampling method was adopted to select 67 primiparal and their 67 spouses who underwent prenatal check-ups in the Obstetrics Clinic of Fengtai Maternal & Child Health Hospital in 2019 as the research objects. The 35 primiparas and their 35 spouses whose expected delivery date was from October to November 2019 were set as the control group and 32 primiparas and their 32 spouses whose expected delivery date was from December 2019 to January 2020 were set as the experimental group. The control group was given breastfeeding knowledge education and answers to questions through WeChat groups, while the experimental group received breastfeeding nursing intervention based on co-parenting theory on the basis of the control group. The rate of exclusive breastfeeding, the simplified Chinese version of Breastfeeding Self-Efficacy Scale Short Form (BSES-SF) score, the Brief Coparenting Relationship Scale (Brief CRS) score of primiparas, and the Chinese version of Iowa Infant Feeding Attitude Scale (IIFAS) score of the spouses of primiparas at 6 weeks postpartum were compared between the two groups.Results:The rate of exclusive breastfeeding in the experimental group at 6 weeks postpartum was 87.5% (28/32) , which was higher than 77.1% (27/35) in the control group, but the difference was not statistically significant (χ 2=0.432, P>0.05) . In the experimental group, the score of inner activity dimension of the simplified Chinese version of BSES-SF was (20.78±5.05) , the total score of the Brief CRS was (71.84±8.60) and the total score of the Chinese version of IIFAS among spouses of primiparas was (63.38±7.25) , which were higher than (16.94±4.78) , (67.00±10.94) , (59.89±5.92) of the control group, and the differences were statistically significant ( t=3.196, 2.002, 2.166; P<0.05) . Conclusions:The breastfeeding intervention scheme based on co-parenting theory can improve the attitude of spouses of primiparas to infant feeding and co-parenting perception of primiparas, and the effect of the intervention on improving the rate of exclusive breastfeeding and self-efficacy of breastfeeding needs to be further verified.

Objective: To investigate the effects of preoperative percutaneous transhepatic biliary drainage on surgical treatment of type Ⅲ and Ⅳ hilar cholangiocarcinoma. Methods: Clinical data of 72 patients with hilar cholangiocarcinoma of the Bismuth-Corlette type Ⅲ and Ⅳ treated at Department of General Surgery,First Affiliated Hospital of Bengbu Medical College from January 2010 to December 2017 were analyzed retrospectively.Patients were divided into two groups based on whether PTBD was performed:a drained group and an undrained group.In the drained group,there were 31 patients,20 males and 11 females,aged (59.9±9.7)years (range: 39-73 years).Among them,14 patients underwent hepatectomy with half or more than half of the liver removed (extended hepatectomy)and 17 patients underwent non-anatomical hepatectomy in the hilar region (limited hepatectomy).In the undrained group,there were 41 patients, 26 males and 15 females, aged (60.8±7.8)years(range: 45-75 years).Among them, 17 patients underwent hepatectomy with half or more than half of the liver removed (extended hepatectomy)and 24 patients underwent non-anatomical hepatectomy in the hilar region (limited hepatectomy).Percutaneous transhepatic biliary drainage(PTBD)was used in the drained group.Under the guidance of ultrasound,one or more hepatobiliary ducts could be sufficiently drained,which had good effect and was not restricted by the obstruction location of hilar cholangiocarcinoma.The analysis of the measurement data was performed using t test,and the analysis of the count data was performed using χ² test,and the survival curve was plotted using Kaplan-meier method. Results: In total, 72 jaundiced patients with hilar cholangiocarcinoma underwent surgical treatment: 31 had PTBD prior to operation while 41 did not had PTBD.There were significant differences in ALT((93.2±21.4)U/L vs.(207.4±65.1)U/L),AST((87.6±18.1)U/L vs.(188.9±56.6)U/L)and total bilirubin((68.8±12.6)μmol/L vs.(227.5±87.7)μmol/L)between the patients after treatment and those before treatment(t=10.958, P=0.000; t=10.845, P=0.000; t=10.386, P=0.000).Compared with those in the undrained group, the operation time was shorter, the amount of intraoperative bleeding and the incidence of complications were lower in the drained group(t=-2.840, P=0.006; t=-3.698, P=0.000; χ²=4.108, P=0.043).There were no perioperative death cases in drained group and 2 perioperative death cases in undrained group.There was no significant difference in R0 resection rate between the two groups(χ²=0.778,P=0.378).The 1-,3-,5-year survival rate of patients in the drained group and the undrained group was 72.7%,34.2%, 13.7% and 72.8%, 31.5%, 11.8%, respectively.The difference was not statistically significant(all P>0.05). Conclusions The preoperative percutaneous transhepatic biliary drainage in patients with hilar cholangiocarcinoma of Bismuth-Corlette type Ⅲ and Ⅳ could effectively shorten operative time, reduce amount of intraoperative bleeding and incidence of postoperative complications,but have no significant effect on the R0 resection rate and survival rate.

Objective: To investigate the infection status and genotype distribution of cervical human papillomavirus (HPV) in women of different ethnic groups and different ages in Yili, Xinjiang Uygur Autonomous Region (Xinjiang). Methods: By using the convenient sampling method, 54 760 women from November 2015 to May 2017 seeking for service in gynecological clinics in a general hospital in Yili, Xinjiang, were selected as the research subjects, and 3 445 samples of cervical mucous exfoliative cells were collected, and the social information of their ethnic and age was collected at the same time. The inclusion criteria were those with sexual life, cervical integrity, and ethnic groups for Han or Uygur or Kazak. PCR-reverse dot blot hybridization was used to detect HPV genotyping in exfoliated cells, and chi-square test was used to compare the difference of HPV positive rate among different ethnic groups. Then, according to ethnicity and age, the differences in positive rates of different ages and ethnic groups were compared in each layer. Results: The positive rate of HPV was 25.6% (882 cases), of which the Han, Uygur and Kazakh were 27.9% (564 cases), 22.9% (196 cases) and 21.6% (122 cases), and the difference was statistically significant (χ²=13.80, P=0.001). The most prevalent high-risk genotypes of Han women were HPV16/52/58, accounting for 24.8% (140 cases), 17.7% (100 cases) and 9.8% (55 cases), respectively. The most prevalent high-risk genotypes of Uygur women were HPV16/52/53, accounting for 34.2% (67 cases), 12.8% (25 cases), 9.2% (18 cases), respectively. The most prevalent high-risk genotypes of Kazak were HPV16/52/53, accounting for 37.7% (46 cases), 17.2% (21 cases), 12.3% (15 cases), respectively. The highest rate of HPV in Uygur patients aged ≥61 years was 41.5% (22 cases), and the lowest in group 36-40 years old, 15.9% (21 cases), the difference between different age groups was statistically significant (χ²=35.01, P<0.001). Conclusion The positive rate of HPV infection among Han, Uygur and Kazak in Yili Prefecture of Xinjiang was different, and the HPV positive genotype differs among different ethnic groups.

OBJECTIVETo explore whether miR-200b suppresses tumor cell invasion by targeting PROM1, thus to reveal the molecular mechanism that miR-200b functions as a tumor suppressor in glioma.

METHODSPROM1 3'UTR-luciferase vector was constructed and dual-luciferase reporter gene assay was employed to examine the effect of miR-200b on luciferase activity. Human glioblastoma U87 cells were transfected with miR-200b mimics, and next qRT-PCR and Western blotting were performed to detect the expressions of PROM1 mRNA and protein. The effect of PROM1 down-regulation on invasion was observed after PROM1 siRNA were transfected into U87 cells.

RESULTSThe miR-200b bound to the 3'-untranslated region (UTR) of PROM1 and inhibited the luciferase activity. Its luciferase activity was down-regulated by 57.0% (P < 0.01). PROM1 protein and mRNA expressions were significantly down-regulated when miR-200b was overexpressed in the U87 cells (P < 0.05). siRNA-mediated down-regulation of PROM1 suppressed the potential of cell invasion. The invasion ability of SKOV3 cells after transfection with siRNA-PROM1 was significantly lower than that in the negative control cells (P < 0.05).

CONCLUSIONmiR-200b may suppress cell invasion by targeting PROM1 in glioma.

3' Untranslated Regions ; AC133 Antigen ; Antigens, CD ; metabolism ; Cell Line, Tumor ; Down-Regulation ; Genes, Reporter ; Genes, Tumor Suppressor ; Genetic Vectors ; Glioblastoma ; genetics ; metabolism ; Glycoproteins ; metabolism ; Humans ; Luciferases ; MicroRNAs ; metabolism ; Peptides ; metabolism ; RNA, Messenger ; RNA, Small Interfering ; Transfection

Objective To identify the metabolic levels in prefrontal lobe in patients with post-concussion syndrome by proton magnetic resonance spectroscopy (1H-MRS), and to explore the relationship between metabolic levels and executive function. Methods The study was conducted in 40 patients with post-concussion syndrome and 20 normal controls. 1H-MRS on prefrontal lobe was performed in patients and controls, the NAA, Cho and Cr were measured and the ratios of NAA/Cr, Cho/Cr and NAA/(Cho + Cr) were determined. They were also evaluated executive functions by verbal fluency test (animal), Wisconsin Card Sorting Test (WSCT) and Tower of Hanoi (TOH). Results Compared with normal controls, the patients with post-concussion syndrome were significantly lower NAA/Cr and NAA/(Cho+Cr) ratios in left prefrontal lobe (P < 0.05). The NAA/Cr ratio in left prefrontal was significantly positive correlated with total scores of verbal fluency (r = 0.66, P < 0.05), categories of WSCT (r = 0.54,P < 0.05) and total score of TOH(r = 0.58, P < 0.05). The NAA/Cr ratio was significantly negative correlated with total errors (r = -0.53, P < 0.05) and persistent errors (r = -0.47, P < 0.05) of WSCT and mean executive time of TOH(r = -0.67, P < 0.05). Conclusions The metabolic levels of NAA in left prefrontal lobe in patients with post-concussion syndrome is significantly decreased , it is one cause of impaired executive functions.