Objective:To analyze the types and distribution of pathogenic variants for neonatal genetic diseases in Huzhou, Zhejiang Province.Methods:One thousand neonates (48 ~ 42 h after birth) born to Huzhou region were selected as the study subjects. Dry blood spot samples were collected from the newborns, and targeted capture high-throughput sequencing was carried out for pathogenic genes underlying 542 inherited diseases. Candidate variants were verified by Sanger sequencing.Results:Among the 1 000 newborns, the male to female ratio was 1.02 : 1.00. No pathogenic variants were detected in 253 cases, whilst 747 cases were found to carry at least one pathogenic variant, which yielded a carrier rate of 74.7%. The most frequently involved pathogenic gene was FLG, followed by GJB2, UGT1A1, USH2A and DUOX2. The variants were classified as homozygous, compound heterozygous, and hemizygous variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), 213 neonates were verified to have carried pathogenic and/or likely pathogenic variants, with a positive rate of 21.3%. The most commonly involved genes had included UGT1A1, FLG, GJB2, MEFV and G6PD. Conclusion:Newborn screening based on high-throughput sequencing technology can expand the scope of screening and improve the positive predictive value. Genetic counseling based on the results can improve the patients′ medical care and reduce neonatal mortality and childhood morbidity, while provide assistance to family members′ health management and reproductive decisions.

Objective:To summarize the research progress of domestic nurses′ turnover intentions in the past ten years, and to provide references for related research on improving nurses′ turnover intentions.Methods:In May 2021, the documents related to nurses′ resignation intentions were retrieved in China National Knowledge Infrastructure (CNKI), Wanfang and VIP database and Citespace5.7.R5 software was used to perform keyword visualization analysis to form keyword clustering graphs and tables, emergent words, and corresponding time zones figure, the current research status and hot trends of nurses′ turnover intentions were analyzed.Results:A total of 2 029 valid documents were retrieved, the number of publications reached the highest peak in 2019. Among them, "nurse", "willingness to leave", "job satisfaction", "turnover intention" and "influencing factors" were the top 5 hot keywords and 23 emergent words were generated; research directions mainly included influencing factors and research objects and workplace related topics.Conclusions:Managers should actively play a leadership role to reduce nurses′ turnover intention through various effective intervention studies.

Objective:To investigate the feasibility of contracted nursing services for disabled persons.Methods:A qualitative study on the feasibility of contracted nursing services for disabled persons was conducted from August 2020 to October 2020 with the phenomenological method. Community nurses were selected with the purpose of sampling method from Yuetan and Baizhifang Community Health Service Centers in Beijing Xicheng District for semi-constructed interviews, and 12 community nurses were finally interviewed according to the principle of information saturation. The research team took field notes, audio recordings and transcriptions of the interviews, coded to refine the themes, and fed back with the respondents to confirm the accuracy of the themes.Results:All the interviewed nurses thought that the contents of basic medical and public health required by the Guidance manual of contracted services of family doctors for disabled persons (the manual) including basic documentation, appointments, pre-diagnosis and post-diagnosis services, home care, rehabilitation nursing guidance, referral services and extended nursing services for the disabled and their families could be completed. All interviewees said that the manual had a guiding role in contracted services for disabled persons. Eight interviewed nurses believed that the manual involved referral services and rehabilitation care, but the technical guidance content did not meet the actual work needs and it should be supplemented and improved; 9 interviewees pointed out that there was a lack of communication with various types of disabled people in service practice, especially for those with vision, hearing, mental disabilities and disabled children; 7 interviewees said that it the free home care for the disabled was not sustainable. Conclusion:The contracted nursing services for disabled persons are feasible and the manual has a guiding role for the practice,and some contents need to be added in the manual to further improve service capacity for disabled people.

Objective:To investigate the status quo of communication between contracted family doctor team and the disabled.Methods:Using convenience sampling, family doctor team members of 80 community health centers (CHCs) in Beijing were selected to participate in a questionnaire survey from April to June 2022. The questionnaire included the basic information of team members, the choice of communication methods and targets, the acquisition of communication knowledge and skills and so on.Results:A total of 365 team members participated in the survey. The most common type of disability was physical disability (78.08%,285/365). All participants met communication obstacles with disabled people in contracted health service, and hearing and speech disabilities were the most common (70.14%, 256/365). Only 13.42% (49/365) chose to directly communicate with the disabled themselves; 84.93% (310/365) used "increase the volume and slow down" method when communicating with the disabled, and 38.63% (141/365) chose "write and convey multiple messages at the same time". Most of participants (84.38%, 308/365) indicated the need for professional training in communication with persons with disabilities.Conclusion:There are communication obstacles between family doctor team members and the disabled during contracted services. More relevant professional training are urgently needed for contracted family doctor team to improve the abilities to communicate with the disabled.

Objective:To compare the predictive value of the Delayed Chemotherapy Induced Nausea and Vomiting Risk Index (DCINV-RI) and the Chemotherapy Induced Nausea and Vomiting Risk Prediction Tool (CINV-RPT) in the risk assessment of delayed chemotherapy induced nausea and vomiting (DCINV) after arterial chemoembolization in patients with primary liver cancer.Methods:From May 2020 to May 2021, convenience sampling was used to select 212 primary liver cancer patients with arterial chemoembolization in the Department of Intervention Therapy of Jiangsu Cancer Hospital as the research object. The patients were divided into the control group ( n=80) and the DCIVN group ( n=132) according to the occurrence of DCIVN. DCINV risk assessment of patients was performed using DCINV-RI and CINV-RPT. Area under the receiver operating characteristic curve ( AUC) , sensitivity, specificity, and Youden index were used to compare the predictive value of the two tools. Results:Among the 212 patients with primary liver cancer, 62.26% (132/212) had grade 2 or above DCINV. When using the two tools for DCINV risk assessment, the scores of patients in the DCINV group were higher than those in the control group, and the difference was statistically significant ( P<0.01) . The AUC for the DCINV-RI score was 0.852. When the total score was 20.500 points, the sensitivity, specificity, and Youden index were 0.838, 0.765, and 0.603 respectively ( P<0.01) , and the predictive value of DCINV-RI was the greatest at this point. The AUC of the CINV-RPT score was 0.924. When the total score was 12.500, the sensitivity, specificity and Youden index were 0.863, 0.841, and 0.703 respectively ( P<0.01) , and the predictive value of CINV-RPT was the greatest at this point. The AUC, sensitivity, specificity and Youden index of CINV-RPT score were higher than those of DCINV-RI score, and the difference was significantly statistical. Conclusions:The incidence of DCINV in patients with primary liver cancer after arterial chemoembolization is at a high level. Both DCINV-RI and CINV-RPT can effectively predict the risk of DCINV in patients with primary liver cancer after arterial chemoembolization, but the predictive value of CINV-RPT is higher than that of DCINV-RI.

Objective:To develop a guiding manual of family doctor contracting service for the disabled with Delphi method.Methods:From November 2017 to July 2018, a research group was formed and a survey on the status of family doctor service for disables was conducted in Beijing and other places. After the preliminary outline was formulated, 15 experts from the fields of general practice and rehabilitation for the disabled were invited and 4 rounds of expert consultation were conducted, finally the Guiding Manual of Family Doctor Contracting Service for the Disabled was developed. Results:The authority coefficient of experts was 0.870, and 13, 13, 15 and 15 questionnaires were collected from 15 experts in 4 rounds of consultation, respectively. The W value of Kendall harmony coefficient of the fourth round of expert consultation was 0.394 (χ 2=319.501, P<0.01) and accuracy was 0.234 (χ 2=189.189, P<0.01). After adding and deleting terms by the suggestion and scores of experts, the final draft of the manual is formed, including 5 first-level terms, 15 second-level terms, 18 third-level terms and 17 fourth-level terms. Conclusion:The Guiding Manual of Family Doctor Contracting Service for the Disabled has been developed with Delphi method. Its reliability, validity and practicability need to been further studied.

Patients aged ≥65 years with dementia diagnosed by neurological specialists were selected in Yuetan community from March 2016 to December 2016.The basic information of patients was collected from the health and medical records;the needs for community care were obtained through a questionnaire survey.Total 91 elderly patients with dementia was included in the study,among whom 15 (16.5％) were found by community institutions,18 (19.9％) patients got medication from the community health institutions.The survey showed that the numbers of participants who agreed that the community health service could provide treatment,drug prescription,referral service,condition assessment,regular follow-up,professional guidance for caregivers,door-to-door service and counseling services for patients and their relatives were 29 (31.8％),18 (19.9％),33 (36.3％),19 (20.9％),23 (25.3％),24 (26.4％),49 (53.8％) and 29 (31.9％),respectively.Results showed that 53.8％ (49/91) dementia patients or their family members wanted to receive instruction of drug use in community health service,17.6％ (16/91) wanted to know about the professional care skill as caregivers.Currently the services for dementia patients in health service centers and stations of Yuetan community are less sufficient,which cannot meet the needs of dementia patients and their family members.

Objective To study the clinical significance of dexamethasone (DT) in the combined spinal and epidural anesthesia for delivery of elderly parturient women. Methods 134 elderly parturient women were selected as the research object, and randomly divided into two groups. 69 cases in DT group received intramuscular injection of dexamethasone and combined anesthesia, while 65 cases in INN group received intramuscular injection of tramadol (INN) and combined spinal and epidural anesthesia. The anesthetic effect of the two groups were observed. Results After treatment, the interleukin (IL-6), myeloperoxidase (MPO), tumor necrosis factor-α (TNF-α) and methane dicarboxylic aldehyde (MDA) in DT group were significantly higher than INN group (P<0.05). The five kinds of immunoglobulins levels (IgA, IgD, IgE, IgG and IgM) in DT group were higher than those in INN group (P<0.05). The heart rate (HR) in DT group was lower and mean arterial pressure (MAP) was higher than that in INN group(P<0.05). There was 1 cases of macrosomia, 2 cases of premature delivery in DT group, the adverse pregnancy outcomes was 4.35%(3/69). there was 1 cases of macrosomia, 1 cases of congenital deformity, 1 cases of premature delivery and 1 case of postterm delivery in DT group, the adverse pregnancy outcomes was 5.80%(4/69), with no significant difference between two groups. Conclusion Dexamethasone combined with anesthesia is very effective for delivery of elderly parturient women which shows very good anti-inflammatory and immunoregulation.

This study was aimed to analyze the "disease-syndrome-treatment-medicine" experiences of professor Ding for diabetes combined with hypertension by using "traditional Chinese medicine (TCM) inheritance support system (V2.5)".By analyzing the data,we summarized Professor Ding's academic experiences.Through collecting the standard clinical cases,combined with the software analysis system,the composing principles were analyzed by using data mining methods such as frequency statistics,revised mutual information,association rules analysis,cluster analysis,improvement of mutual information,complex system entropy clustering,unsupervised hierarchical clustering entropy and so on.The analysis results showed that 28 patients with diabetes combined with hypertension of yin-deficiency and yang-hyperactivity syndrome,the characteristics were discovered that the highest-frequency used drugs of Ping Gan Xi Feng were concha haliotidis,concha margaritifera,rhizoma gastrodiae;the highest-frequency used drug combinations were "radices rehmanniae,rhizoma dioscoreae","folium mori,cortex mori","semen cuscutae,rhizoma dioscoreae,radices rehmanniae" and so on.Analyzing the 27 patients with diabetes combined with hypertension "wind and fire evils stir up syndrome,the characteristics were discovered that the highest-frequency used drugs of Ping Gan Xi Feng were concha haliotidis,concha margaritifera.In addition to the most common combinations used in diabetes,there were "rhizoma coptidis,spica prunellae","spica prunellae,folium mori","rhizoma coptidis,radices rehmanniae,cortex lycii","spica prunellae,folium mori,rhizoma coptidis" and so on.It was concluded that the syndrome differentiation and treatment of diabetes combined with hypertension was focused on the etiology and pathogenesis of wind and fire.The main treatment principle was to calm the liver to stop the wind,nourish yin and suppress hyperactive yang.

Objective To explore the prevalence of sialorrhea and its clinical correlation with dysphagia in Chinese patients with Parkinson′s disease ( PD ).Methods One hundred and sixteen consecutive patients with a clinical diagnosis of PD were selected.Demographic data included sex , age, years of education, age at onset of PD, clinical genotype, disease duration, treatment, Hoehn and Yahr (H&Y) stage.Sialorrhea was assessed using the Unified Parkinson′s Disease Rating Scale (UPDRS) Ⅱitem number 6.All patients were studied with videofluoroscopic study of swallowing ( VFSS).Results The prevalence rate of sialorrhea in PD was 59.5% (69/116, 95% CI 50.6%-68.4%).Males were more likely to develop sialorrhea than females (47/70 vs 22/46,χ2 =4.298, P=0.038).PD patients′sialorrhea correlated with oral dysphagia:with food leaking from the mouth ( liquid r=0.229, P=0.014; juice r=0.197, P=0.034;pudding viscosities r=0.231, P=0.013;solid food r=0.255, P=0.006), with more than 1 ml of oral food residues (liquid r=0.319, P<0.01;solid food r=0.185, P=0.047), with delay in food transfer to the root of the tongue (liquid r=0.279, P=0.002; juice r=0.209, P=0.024), and delayed swallow transfer ( pudding viscosities r=0.257, P=0.005).Sialorrhea score was not related to H&Y stage, clinical course and levodopa equivalent doses (LED).The prevalence rate of dysphagia in PD was 87.1%(95% CI 81.0% -93.2%).Liquid was more likely to cause pharyngeal dysphagia ( P=0.03).With the increase in H&Y stage , so did the oral and pharyngeal stages of dysphagia.Late and mid-course was more likely to develop oral and pharyngeal dysphagia than those with early clinical course .Conclusions Sialorrhea and dysphagia are common non-motor symptoms in PD patients.Sialorrhea is more prevalent in males and correlates with oral phase of dysphagia.Liquid is more likely to cause pharyngeal dysphagia.With increase in H&Y stage , so did oral and pharyngeal dysphagia.Even though late clinical course is more likely to develop oral and pharyngeal dysphagia than early clinical course , the comparison between late and intermediate clinical courses does not reach statistical significance .