The use of high-resolution SNP arrays to detect congenital cardiac defects.

OBJECTIVE: Copy number variations (CNVs) detected by high-resolution single nucleotide polymorphism microarrays (SNP arrays) have been associated with congenital heart defects (CHDs). The genetic mechanism underlying the development of CHDs remains unclear. METHODS: High-resolution SNP arrays were used to detect CNVs and traditional chromosomal analyses, respectively, were carried out on 60 and 249 fetuses from gestational 12-37 weeks old, having isolated or complex CHDs that were diagnosed using prenatal ultrasound. RESULTS: Twenty of the 60 fetuses (33.5%) had abnormalities, of which 23 CNVs (12 pathogenic, five probable pathogenic and six of undetermined significance) were detected by SNP arrays, and two distinct CNVs were present in three of these fetuses. In addition, in 39 patients with isolated congenital heart disease who had normal karyotypes, abnormal CNVs were present in 28.2% (11/39), and in patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. In patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. CONCLUSIONS: In conclusion, genome-wide high-resolution SNP array can improve the diagnostic rate and uncover additional pathogenic CNVs. The submicroscopic deletions and duplications of Online Mendelian Inheritance in Man (OMIM) genes found in this study have haploinsufficient (deletion) or triplosensitive (duplication) traits, which further clarify the etiology and inheritance of CHDs.

Research progress of the re-emerging monkeypox epidemic / 中华临床感染病杂志

The first global outbreak of monkeypox in non-epidemic regions occurred in May 2022, and the World Health Organization defined it as a public health emergency of international concern in July 2022. Compared with previous outbreaks of monkeypox in Africa, the current one is different in etiology, epidemiology and clinical characteristics. This article reviews the features of the latest outbreak of monkeypox, and the currently available antiviral treatment and vaccines, so as to provide reference for the prevention and treatment of monkeypox.

Analysis of the status quo of self-perception and its influencing factors in Changsha elderly / 中国实用护理杂志

Objective:To investigate the self-perceived aging status of the elderly in Changsha and analyze its influencing factors.Methods:From July to August in 2020, the convenient sampling method was used to select 402 elderly people in Changsha as the research object, the general data questionnaire, the elderly self-perceived aging questionnaire, the family care questionnaire and the positive psychological capital questionnaire were used to investigate them. Multiple linear regression analysis was used to analyze the influencing factors of self-perceived aging after logarithmic transformation.Results:The total score of self-perceived aging of the elderly was 109.00(102.00, 112.00), the total score of family care was 5.00(3.00, 8.00) and the total score of psychological capital was 80.00(66.00, 87.25). Regression analysis showed that the gender, educational level, age, the forms of health care, quarrels in family relationships, children visit frequency and the degree of family care were the important factors affecting the self-perceived aging of the elderly( P<0.05). Conclusions:The self-perceived aging level of the elderly is at a medium level, it is suggested that relevant departments take comprehensive measures to create positive self-aging environment.

Effect of intraoperative IPC on patients with gynaecological laparoscopic surgery / 现代临床护理

Objective To study the effect of intraoperative intermittent pneumatic compression(IPC)on patients undergoing gynaecological laparoscopic surgery.Methods Two hundred infertile patients to undergo exploratory laparotomy were randomized equally into the observation group and the control group.The patients in both groups were managed with laparoscopic operation at lithotomy position under general anaesthesia.During the operation,the control group was treated with nil intervention,while the observation group with IPC.The two groups were compared in terms of blood coagulation indexes before operation,days 1 and 3 after operation,blood flow rate of femoral vein before operation,30 mins and day 1 after the operation,and deep vein thrombosis(DVT) three months after operation.Results Three months after operation,12 cases of DVT occurred in the control group,and only 2 cases in the observation group.The difference was significant between the groups(χ2=6.22,P0.05).Conclusion IPC used during laparoscopic surgery may be safe and effective as a result of improving blood circulation of lower limbs and preventing venothrombosis in lower limbs.