OBJECTIVETo diagnose a Chinese benign familial neonatal convulsions (BFNC) family at the level of gene and investigate its molecular pathogenesis.

METHODSAll family members were studied by clinical examinations and linkage analysis. Mutation analysis of KCNQ2 gene was made by means of polymerase chain reaction (PCR)-direct sequencing and PCR-single strand conformation polymorphism (SSCP) in the proband, 16 family members and 72 unrelated normal individuals.

RESULTSLinkage analysis hinted the linkage of BFNC to KCNQ2, while the linkage to KCNQ3 was excluded. Mutation 1931delG of KCNQ2 gene was found in the proband by DNA-direct sequencing. The same SSCP variant as the proband's was showed in the rest affected members of this family but not in the unaffected members of this family and all of the 72 unrelated normal individuals.

CONCLUSION1931delG of KCNQ2 gene can cause BFNC in China and is novel mutation. The combination of linkage analysis and gene analysis is useful for gene diagnosis.

Epilepsy, Benign Neonatal ; genetics ; Female ; Genetic Linkage ; Humans ; Infant, Newborn ; KCNQ2 Potassium Channel ; KCNQ3 Potassium Channel ; Mutation ; Potassium Channels ; chemistry ; genetics ; Potassium Channels, Voltage-Gated

OBJECTIVETo investigate the children with hearing loss from the age 0 to 6, and discuss the found age, found way and audiological characteristics.

METHODSGeneral information of found age and found way of 265 children, were investigated with self-made questionnaire and routine audiological evaluations, and then made statistical analysis.

RESULTSThe average (x +/- s) found age for the children with hearing loss was (23.21 +/- 10.02) months, and the first average coming age was (28.01 +/- 13.41) months. The found age of girls [(27.11 +/- 13.13) months] was 6.1 months later than the boys' [(21.03 +/- 12.32) months] and the countryside children [(28.27 +/- 11.09) months] later than the city's [(19.52 +/- 13.05) months] 8.65 months in the average found age. The found age of children who were found with speech disability was later than others. As the hearing loss degree of children went milder, the found age might later.

CONCLUSIONSThe popularization of knowledge in preventing from hearing loss must be strengthened. It is also necessary to popularize newborn hearing screening and early intervention while to enhance the parents' consciousness.

Child ; Child, Preschool ; Female ; Hearing Loss ; diagnosis ; prevention & control ; Hearing Tests ; Humans ; Infant ; Infant, Newborn ; Male ; Mass Screening ; Surveys and Questionnaires

OBJECTIVE: Deep learning models, including recurrent neural network (RNN) and gated recurrent unit (GRU), were used to construct the clinical prognostic prediction models for peritoneal dialysis (PD) patients based on routine clinical data. The performance of the RNN and GRU were compared with logistic regression (LR), which is commonly used in medical researches. The possible underlining clinical implications based on the result from the GRU model were also investigated. METHODS: We used the clinical data from the PD center of Peking University Third Hospital as the data source. Both the baseline data at the beginning of dialysis, and the follow-up and prognostic data of the patients were used by the RNN and GRU prediction models. The hyper-parameters were tuned based on the 10-fold cross-validation. The risk prediction performance of each model was evaluated via area under the receiver operation characteristic curve (AUROC), recall rate and F1-score on the testset. RESULTS: A total of 656 patients with the 261 occurrences of death were included in the experiment. The total number of all diagnostic records were 13 091. The results on the testset showed that the AUROC of the LR model, RNN model, and GRU model was 0.701 4, 0.786 0, and 0.814 7, respectively. The predictive performances of the GRU and RNN models were significantly better than that of the LR model. The performances of the GRU and RNN models assessed by recall rate and F1-score were also significantly better than that of the LR model, in which the GRU model reached the best performance. In addition, the recall rates were different among different causes of death or by different prediction time windows. CONCLUSION The recurrent neural network model, especially the GRU model, is more effective in predicting PD patients' prognosis as compared with the LR model. This new model may be helpful for clinicians to provide timely intervention, thus improving the quality of care of PD.
Databases, Genetic ; Humans ; Logistic Models ; Neural Networks, Computer ; Peritoneal Dialysis ; Prognosis

Biochemical recurrence (BCR) is important for measuring the oncological outcomes of patients who undergo radical prostatectomy (RP). Whether transurethral resection of the prostate (TURP) has negative postoperative effects on oncological outcomes remains controversial. The primary aim of our retrospective study was to determine whether a history of TURP could affect the postoperative BCR rate. We retrospectively reviewed patients with prostate cancer (PCa) who had undergone RP between January 2009 and October 2017. Clinical data on age, prostate volume, serum prostate-specific antigen levels (PSA), biopsy Gleason score (GS), metastasis stage (TNM), D'Amico classification, and American Society of Anesthesiologists (ASA) classification were collected. Statistical analyses including Cox proportional hazard models and sensitivity analyses which included propensity score matching, were performed, and the inverse-probability-of-treatment-weighted estimator and standardized mortality ratio-weighted estimator were determined. We included 1083 patients, of which 118 had a history of TURP. Before matching, the non-TURP group differed from the TURP group with respect to GS (P= 0.047), prostate volume (mean: 45.19 vs 36.00 ml, P < 0.001), and PSA level (mean: 29.41 vs 15.11 ng ml^-1, P= 0.001). After adjusting for age, PSA level, T stage, N stage, M stage, and GS, the TURP group showed higher risk of BCR (hazard ratio [HR]: 2.27, 95% confidence interval [CI]: 1.13-3.94, P= 0.004). After matching (ratio 1:4), patients who underwent TURP were still more likely to develop BCR according to the adjusted propensity score (HR: 2.00, 95% CI: 1.05-3.79, P= 0.034). Among patients with PCa, those with a history of TURP were more likely to develop BCR after RP.
Aged ; Humans ; Male ; Middle Aged ; Neoplasm Grading ; Neoplasm Recurrence, Local/pathology* ; Prostate-Specific Antigen/blood* ; Prostatic Neoplasms/surgery* ; Retrospective Studies ; Risk Factors ; Transurethral Resection of Prostate/adverse effects*

Prostate cancer (PCa) is the second-most common cancer among men. Both active surveillance or watchful waiting (AS/WW) and focal laser ablation (FLA) can avoid the complications caused by radical treatment. How to make the choice between these options in clinical practice needs further study. Therefore, this study aims to compare and analyze their effects based on overall survival (OS) and cancer-specific survival (CSS) to obtain better long-term benefits. We included patients with low-risk PCa from the Surveillance Epidemiology and End Results database of 2010-2016. Multivariate Cox proportional hazard analyses were conducted for OS and CSS in the two groups. To eliminate bias, this study applied a series of sensitivity analyses. Moreover, Kaplan-Meier curves were plotted to obtain survival status. A total of 18 841 patients with low-risk PCa were included, with a median of 36-month follow-up. According to the multivariate Cox proportional hazard regression, the FLA group presented inferior survival benefits in OS than the AS/WW group (hazard ratio [HR]: 2.13, 95% confidence interval [CI]: 1.37-3.33, P < 0.05). After adjusting for confounders, the result persisted (HR: 1.69, 95% CI: 1.02-2.81, P < 0.05). According to the results of the sensitivity analysis, the inverse probability of the treatment weighing model indicated the same result in OS. In conclusion, AS/WW and FLA have the advantage of fewer side effects and the benefit of avoiding overtreatment compared with standard treatment. Our study suggested that AS/WW provides more survival benefits for patients with low-risk PCa. More relevant researches and data will be needed for further clarity.
Humans ; Laser Therapy ; Male ; Proportional Hazards Models ; Prostatectomy ; Prostatic Neoplasms ; Risk ; Watchful Waiting