OBJECTIVETo assess the value of next generation sequencing (NGS) for the analysis of spontaneous abortion samples.

METHODSThe NGS analysis was carried out on 85 chorionic villi samples (taken between 42 days to 12 weeks of gestation) for which conventional cell culture has failed or chromosomal karyotyping has yielded normal or uncertain result.

RESULTSAmong 68 samples with a normal karyotype, the NGS analysis has identified 2 copy number variations (CNVs) and 2 chimeras. For 16 cases with failed cell culture, the NGS has identified 4 chromosomal abnormalities including 1 copy number variation and 3 numerical chromosomal aberrations. For 1 remaining case with uncertain karyotyping result, the NGS analysis has verified it as 46,XX,del(4) (p15.1p16.3).seq[GRCh37/hg19] (57 549 - 32 371 364)×1.

CONCLUSIONThe NGS analysis is capable of identifying novel CNVs in samples for which conventional cell culture may fail or karyotyping analysis may yield a normal result.

Abortion, Spontaneous ; genetics ; Adolescent ; Adult ; Cells, Cultured ; DNA Copy Number Variations ; Female ; High-Throughput Nucleotide Sequencing ; methods ; Humans ; Karyotyping ; Middle Aged ; Pregnancy ; Young Adult

OBJECTIVE: To explore the genetic cause for a child featuring growth and mental retardation. METHODS: Following conventional karyotyping analysis of the trio family, next generation sequencing (NGS) was carried out to explore the origin of the supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) was used to confirm the result. RESULTS: The karyotypes of both parents were normal, while the proband was found to be 47,XX,+mar. NGS showed that the supernumerary marker has originated from chromosome 9p13.1p24.3 with a size of 39.77 Mb. FISH has confirmed the above finding. CONCLUSION The 9p13.1-p24.3 trisomy probably underlies the abnormal phenotypes of the child. Cytogenetic analysis combined with NGS and FISH can provide accurate diagnosis for such disorders.
Child ; Chromosomes, Human, Pair 9 ; genetics ; Cytogenetic Analysis ; High-Throughput Nucleotide Sequencing ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Trisomy

Objective:To assess the knowledge of Chinese nurses regarding disaster and emergency preparedness and its related factors.Methods:A total of 1 950 nurses were randomly selected from 152 hospitals of 30 provinces and municipalities in China. Two questionnaires were used to collect general data and associated information. The scale of nurse disaster emergency knowledge includes six dimensions: the function of emergency command system (ICS), the role, triage, communication, special care and isolation decontamination, report and access to important resources, biological agents. All of the data were analyzed with SPSS 20.0.Results:Totally 1 950 valid questionnaires were collected. The average score of Chinese nurses was (147.5 ± 33.8) (index value: 73.75%), which was at a middle level. And it was greater than that of the domestic norm. Among the six dimensions, knowledge of triage yielded the highest score (21.25 ± 5.55) (index value: 85.00%), and knowledge of biologics had the lowest score (10.21 ± 3.00) (index value: 68.07%). Education background, professional title, job position, experience, training and identity also were important associated factors ( t values were -4.107-12.376, P<0.01). Conclusion:Chinese nurses have a moderate level of knowledge of disaster and emergency preparedness. Health administrators should constantly enhance framework for disaster and emergency nursing core competencies, and enrich the content and methods of training. Further, simulation-based training and participation in large-scale disaster relief could improve nurses knowledge of disaster and emergency preparedness.

In order to further understand the cognitive attitude of different groups towards the rank of rights and interests in medical decision-making and its influencing factors, and provide theoretical reference for the practice of medical decision-making, this study conducted convenience sampling through the questionnaire star enterprise edition. The collected data were descriptive statistical analysis with SPSS 21.0 software and joint hypothesis testing. The results showed that there were differences in the cognition of religious beliefs on the same individual’s rights and interests rank among the sample population (P<0.05). There were differences in the cognition of professional title, working years and institution level on the attitude of rights and interests rank in the group of medical institutions (P<0.05). In the ranking of the importance of individual rights usually involved in medical activities, the rights to life, health and equality were the most important. Most people can rationally view the rights and interests of doctors, patients and stakeholders. In medical decision-making, we should adhere to the principle of right rank, give priority to safeguarding the right to life and give consideration to fairness and justice. In the face of conflicts of interest, we should do a good job in value evaluation, safeguard the reasonable interests of patients and give consideration to the demands of family members.

Objective To explore the current situation of evidence-based nursing practice in pain assess-ment by nurses in China to provide the decision-making data for maximizing to relieve the patient pain by car-rying out the pain assessment evidence-based nursing practice.Methods The non-probability sampling meth-od was used to conduct an online anonymous survey in 63 class 3A hospitals in the whole country.The ques-tionnaire included the general information questionnaire and evidence-based nursing practice scale for pain as-sessment.The evidence-based nursing practice scale for pain assessment included the pain screening,compre-hensive pain assessment,exchange with the patients and their households in the pain assessment,pain re-as-sessment,pain assessment tool selection and record.The 5 dimensions were compared by using item equaliza-tion.The data analysis was performed by the SPSS26.0.Results A total of 1 518 questionnaires were recov-ered,in which 1 482 questionnaires were valid with an effective recovery rate of 97.62％.The evidence-based nurse practice of pain assessment by nurse was(108.40±17.96)points,the pain screening was(12.87±2.23)points,the item average score was the highest[(4.29±0.74)points],the communication with the patients and their household was(23.69±4.93)points and the item average score was the lowest[(3.94±0.82)points].The regression analysis showed that whether receiving the pain training and whether distinguishing active pain and resting pain had a positive effect on the practical behavior(P＜0.05).Conclusion The evi-dence-based nursing practice in pain assessment by nurses in the partial class 3A hospitals in China is in the upper medium level.However,the communication between the patients and their families is insufficient.Man-agers should constantly enrich the training content and methods,and guide nurses to strengthen the communi-cation between nurses and the patients.

Objective:To analyze the value of the modified 5-factor frailty index in assessing postoperative complications and mortality in elderly hip fracture patients.Methods:In this retrospective study, clinical data were collected of hip fracture patients aged 60 years and above surgically treated at Beijing Luhe Hospital affiliated to Capital Medical University between January 2015 and December 2019.Patients' group assignment was based on whether the modified frailty index score was ≤1 or ≥2, and a post-surgery follow-up was conducted for survival at 30 days, 1 year, 2 years, and 4 years, which was analyzed by the Kaplan-Meier method.Multivariate Cox regression analysis was used to identify factors affecting death in elderly patients.Results:A total of 1 208 patients were included, with 890 in the group with the index score ≤1 and 318 in the group with the index score ≥2.There was no difference in mortality at 30 days(1.6% or 14/890 vs.1.9% or 6/318, P=0.707), 1-year(11.3% or 99/874 vs.11.6% or 36/310, P=0.917), 2-years(19.7% or 168/852 vs.24.3% or 73/300, P=0.099)and 4-years(44.0% or 238/541 vs.51.5% or 106/206, P=0.071). The incidence of postoperative complications in the group with the score ≥2 was higher(14.8% or 47/318 vs.9.7% or 86/890, P=0.012), including the incidence of stroke(6.3% or 20/318 vs.1.8% or 16/890, P<0.001)and the incidence of postoperative pneumonia(6.0% or 19/318 vs.3.1% or 28/890, P=0.029), and the differences were statistically significant.Multivariate Cox regression analysis showed that age, being female, the Charlson comorbidity index score and low hemoglobin at admission were risk factors for 1-year, 2-year and 4-year mortality post-surgery(all P<0.05), while the modified frailty index score had no correlation with postoperative mortality. Conclusions:A modified frailty index ≥2 is predictive of increased risk of postoperative pneumonia and stroke in patients with hip fractures, but is not correlated with the risk of postoperative mortality.

In order to further understand the cognitive attitude of different groups towards the rank of rights and interests in medical decision-making and its influencing factors, and provide theoretical reference for the practice of medical decision-making, this study conducted convenience sampling through the questionnaire star enterprise edition. The collected data were descriptive statistical analysis with SPSS 21.0 software and joint hypothesis testing. The results showed that there were differences in the cognition of religious beliefs on the same individual’s rights and interests rank among the sample population (P<0.05). There were differences in the cognition of professional title, working years and institution level on the attitude of rights and interests rank in the group of medical institutions (P<0.05). In the ranking of the importance of individual rights usually involved in medical activities, the rights to life, health and equality were the most important. Most people can rationally view the rights and interests of doctors, patients and stakeholders. In medical decision-making, we should adhere to the principle of right rank, give priority to safeguarding the right to life and give consideration to fairness and justice. In the face of conflicts of interest, we should do a good job in value evaluation, safeguard the reasonable interests of patients and give consideration to the demands of family members.

The guidelines for curriculum ideological and political of nursing ethics explored the ideological and political elements of Chinese nursing,and proposed the curriculum's ideological and political goals.The development framework and basic ideas of guidelines were formed from the aspects of the integration path of curriculum ideological and political,and professional teaching,searching for the entry point of curriculum ideological and political,reforming the teaching methodology,enriching the form of teaching,and constructing the case base of curriculum ideological and political.It promoted the deep integration of nursing professional knowledge transmission and ideological value guidance,created a distinctive education system of curriculum ideological and political for nursing ethics,and provided a reference for the curriculum ideological and political construction of national nursing ethics.