Objective: To delineate the clinical features, inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication. Methods: Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization(FISH) were employed for the analysis of the proband and his family members. Results: A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal. Conclusion Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family.P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.

Objective To investigate the correlation between serum laminin (LN),type collagen (ⅣC),type procollagen N-terminal peptide (PⅢNP),hyaluronic acid (HA) and the severity as well as the prognosis of idiopathic pulmonary fibrosis (IPF).Methods From February 2015 to July 2016,160 IPF patients and 160 healthy subjects as controls were enrolled in this retrospective study.Serum LN,ⅣC,PⅢNP,and HA were analyzed in IPF patients and healthy controls.Pulmonary function test and chest high resolution computed tomography (HRCT) were carried out in IPF patients.Demographics and clinical characteristics,the percentage of forced vital capacity in the prediction value (FVC％pred),the percentage of diffusing capacity of the lung for carbon monoxide in the prediction value (DLCO％pred),and HRCTscore were collected.IPF patients were followed up.Results (1)There were no significant difference between two groups in age and sex ratio.The proportion of smoker in IPF patients was significantly higher than that in healthy controls(P ＜ 0.01).(2)Serum LN(P ＜ 0.01),ⅣC(P ＜ 0.01),PⅢNP(P ＜ 0.01),and HA(P ＜ 0.01) were significantly increased in the patients with IPF compared with the healthy controls.(3)Serum LN,ⅣC,PⅢNP,and HA of IPF patients positively correlated with HRCT score,all P ＜ 0.01,and negatively correlated with FVC％pred and DLCO％pred (all P ＜ 0.05).(4)Serum LN(P ＜ 0.01),ⅣC(P ＜ 0.05),PⅢNP(P ＜ 0.01),and HA(P ＜ 0.01) in acute exacerbation IPF patients were significantly higher than those in the stable IPF patients.(5)Serum LN(P ＜ 0.01),ⅣC(P ＜0.01),PⅢNP(P ＜ 0.01),and HA(P ＜ 0.01) in the survived patients were significantly lower than those inthe dead patients.Conclusions Serum LN,ⅣC,PⅢNP,and HA may reflect IPF prognosis and the severity of IPF.

Objective To investigate the effect of Jinghou Zengzhi Recipe(JHZZR)on Fas apoptosis pathway in ovarian granulosa cells of rats with controlled ovarian hyperstimulation(COH)and to investigate the possible mechanism of the effect of JHZZR on improving oocyte quality. Methods To establish the model of COH,30 rats were randomly divided into the blank group,the positive group and the TCM group.The expression of Fas,Fasl,Caspase8,Caspase3 in ovarian was detected by qPCR andWestern Blot assay,respectively. Results The expression of Fas,Fasl,Caspase8,Caspase3 was lowered in the blank group and the TCM group. Conclusion JHZZR can inhibit Fas signalling,suggesting that Fas pathway may be one of the mechanisms under-lying that JHZZR improves oocyte quality.

Objective:To develop an program for training diabetes educators amid normalization stage of novel coronavirus pandemic prevention and control, and provide reference for clinical teaching under special circumstances.Methods:From January 2020 to June 2021, The head member of Diabetes Education and Management Committee of Hunan Health Management Association Xiangya Hospital of Central South University, developed and implemented a program based on core competencies of diabetes educators. It included 26 online courses, one to one education demonstration video with 7 themes, one diabetes conversation map and simulation, and three-week clinical practice. From April 2021 to June 2021, 55 health workers participated in the program. Theoretical tests, video feedback and questionnaires were used to evaluate the trainees′ diabetes knowledge, educational skills and satisfaction with the training program.Results:A total of 55 health workers participated in the program. All the participants completed the online courses and passed the quizzes, the theoretical examination score was (92.93 ± 5.28). Fifty-four participants finished the tasks of clinical practice and obtained the certificate of diabetes educator. Their communication skills and strategies of behavior change were significantly improved ( χ2 values were 4.17 -26.34, all P<0.05), and all of them were satisfied with the program. Conclusions:The training mode based on online training is flexible, convenient and effective,which is suitable for stage of novel coronavirus pandemic prevention and control.

To revise GBZ 188 Technical Specification for Occupational Health Surveillance based on national laws, regulations, standards, specifications and legal documents of occupational disease, and combination with the actual situation in China. The main modifications are as follows: the occupational health surveillance for workers exposed to toluene (xylene may implement by reference), bromopropane, methyl iodide, ethylene oxide, chloroacetic acid, indium and its compounds, coal tar, coal tarasphalt, asphalt, β-naphthylamine, dust of metal and its compounds(tin, iron, antimony, barium and its compounds), hard metal dust, erionite dust, low temperature, laser, tick-borne encephalitis virus, Borrelia burgdorferi, and human immunodeficiency virus, for scraper or grind operators, and underground workers using squatting or kneeling position, crawling position, side-lying position, or shoulder position for a long period of time are included. The emergency health screening for workers exposed to arsenic, fluorine and its inorganic compounds, and acrylamide are included. The occupational medical examination (OME) for workers exposed to amino and nitro compounds of benzene, phosgene, monomethylamine, organic fluorine and dimethyl sulfate has been adjusted and made mandatory, with corresponding assessments required upon leaving the job. The special occupational health surveillance for workers exposed to mycobacterium tuberculosis and hepatitis virus is removed. The OME conclusion of reexamination is removed, and standardize recheck/additional inspection requirements. The optional items in OME performed before, during and after leaving post are removed, but the optional items in emergency medical examination are retained. Additional OME items are added. The Guideline for OME Summary Reports is added as informative appendix, and so on. The revised GBZ 188 Technical Specification for Occupational Health Surveillance is more scientific and practical.

This paper studies the active force characteristics of the neck muscles under the condition of rapid braking, which can provide theoretical support for reducing the neck injury of pilots when carrier-based aircraft blocks the landing. We carried out static loading and real vehicle braking experiments under rapid braking conditions, collected the active contraction force and electromyography (EMG) signals of neck muscles, and analyzed the response characteristics of neck muscle active force response. The results showed that the head and neck forward tilt time was delayed and the amplitude decreased during neck muscle pre-tightening. The duration of the neck in the extreme position decreased, and the recovery towards the seat direction was faster. The EMG signals of trapezius muscle was higher than sternocleidomastoid muscle. This suggests that pilots can reduce neck injury by pre-tightening the neck muscles during actual braking flight. In addition, we can consider the design of relevant fittings for pre-tightening the neck muscles.
Neck Muscles ; Neck ; Electromyography ; Head