This article reported a case of autosomal dominant intellectual developmental disorder type 22 caused by a heterozygous mutation in the ZBTB18 gene. At 24 +4 weeks of gestation, prenatal ultrasound indicated a short outer diameter of the fetal corpus callosum and bilateral ventricular dilatation. Whole-genome copy number variation analysis of the fetus showed no abnormalities. Whole exome sequencing (WES) and Sanger sequencing validation of the family revealed the fetus carried a c.1374_1383del(p.S459*) heterozygous mutation in the ZBTB18 gene (NM_205768.3), which was neither phenotypically present nor genotypically detected in the parents, suggesting a de novo mutation. Based on the clinical manifestations, the fetus was diagnosed with autosomal dominant intellectual developmental disorder type 22. After genetic counseling, the pregnant woman opted for termination of the pregnancy. This case highlights the correlation between prenatal ultrasonic detection of callosal dysgenesis and lateral ventricular enlargement and intellectual developmental disorders caused by gene mutations. Furthermore, it expands the mutation spectrum of the ZBTB18 gene, thereby facilitating prenatal diagnosis and genetic counseling.

This article reported a case of autosomal dominant intellectual developmental disorder type 22 caused by a heterozygous mutation in the ZBTB18 gene. At 24 +4 weeks of gestation, prenatal ultrasound indicated a short outer diameter of the fetal corpus callosum and bilateral ventricular dilatation. Whole-genome copy number variation analysis of the fetus showed no abnormalities. Whole exome sequencing (WES) and Sanger sequencing validation of the family revealed the fetus carried a c.1374_1383del(p.S459*) heterozygous mutation in the ZBTB18 gene (NM_205768.3), which was neither phenotypically present nor genotypically detected in the parents, suggesting a de novo mutation. Based on the clinical manifestations, the fetus was diagnosed with autosomal dominant intellectual developmental disorder type 22. After genetic counseling, the pregnant woman opted for termination of the pregnancy. This case highlights the correlation between prenatal ultrasonic detection of callosal dysgenesis and lateral ventricular enlargement and intellectual developmental disorders caused by gene mutations. Furthermore, it expands the mutation spectrum of the ZBTB18 gene, thereby facilitating prenatal diagnosis and genetic counseling.

Objective:To summarize the best evidence of prevention strategies for non-ventilator associated hospital-acquired pneumonia (NV-HAP) .Methods:The literature on the prevention and control of NV-HAP was searched on UpToDate, BMJ Best Practice, Agency for Healthcare Research and Quality, Guidelines International Network, Medlive, PubMed, Web of Science, Cochrane Library, WanFang Data, China Biology Medicine disc, and other databases and websites. The search period was from November 1, 2013, to November 1, 2023. Two researchers conducted a literature quality evaluation and extracted evidence.Results:A total of ten articles were included, including six guidelines, two systematic reviews, and two randomized controlled trials. Twenty-six pieces of evidence were summarized from seven aspects of oral hygiene, prevention of aspiration, nutrition and activity, airway management, hand hygiene, cleaning, disinfection and isolation, and antibiotic management.Conclusions:The best evidence of NV-HAP prevention strategies summarized provides a reference for medical and nursing staff to prevent and control NV-HAP.

Objective:To review and summarize the best evidence of prevention and control measures of carbapenem-resistant Enterobacteriaceae (CRE) hospital infection, and provide evidence-based reference for health care workers to prevent and control CRE infection. Methods:A literature search strategy was developed to systematically search BMJ Best Clinical Practice, UpToDate, the World Health Organization, the Centers for Disease Control and Prevention website, the European Centers for Disease Control and Prevention website, the International Guidelines Collaboration website, the National Practice Technical Guidelines Library of the United States, the National Institute of Health and Clinical Optimization in the United Kingdom, the Ontario Medical Association of Canada, Maimai Tong, Cochrane Library, Australian Joanna Briggs Institute Evidence-Based Health Care Center database, PubMed, Web of Science, China National Knowledge Network, Wanfang database, VIP database, Chinese Biomedical Literature database of evidence related to the prevention and control of CRE hospital infection. The search period was from January 1, 2018 to October 1, 2023. The literature quality was evaluated independently by two research members, and evidence extraction and synthesis were carried out for the included literature.Results:A total of 10 articles were included, including 6 guidelines, 3 expert consensus articles, and 1 systematic review. 29 best evidences were formed from 6 aspects: preventive monitoring, active screening, contact isolation, environmental cleaning and disinfection, bacterial colonization, and hand hygiene measures.Conclusions:This study summarized the best evidence on the prevention and control measures of CRE infection in hospitals. Clinical staff and management departments should take active and effective prevention and control measures based on the local CRE epidemiological situation and resource requirements to reduce the risk of CRE infection.

Objective:To explore the effect of nursing management model based on the man, machine, material, method, measurement and environment (5M1E) analysis on nosocomial infection of multidrug-resistant organism (MDRO) in Intensive Care Unit (ICU) .Methods:From January 2019 to December 2020, convenience sampling was used to select ICU patients in the Second Hospital of Shanxi Medical University as the research objects. Patients admitted to the hospital from January to December 2019 were taken as the control group ( n=1 224) to implement routine nursing management. Patients admitted to the hospital from January to December 2020 were taken as the observation group ( n=1 134) , and the nursing management model based on 5M1E analysis was implemented. The differences in the use rate of antibacterial drugs, the intensity of antibacterial drug use, the separation amount of newly MDRO per thousand hospitalization days, the length of ICU stay, the total length of stay, and the cost of treatment were compared between the two groups. Results:The use rate of antibacterial drugs, the intensity of antibacterial drug use, and the separation amount of newly MDRO per thousand hospitalization days in the observation group were lower than those in the control group, and the differences were statistically significant ( P<0.01) . The length of ICU stay, total length of stay, and treatment costs of the observation group were less than those of the control group, and the differences were statistically significant ( P<0.01) . Conclusions:The nursing management model based on the 5M1E analysis can reduce the use rate of antibacterial drugs in ICU patients, the intensity of antibacterial drug use, the separation amount of newly MDRO per thousand hospitalization days, shorten the length of ICU stay, total length of stay, and reduce treatment costs, which is worthy of clinical promotion.

Objective To investigate the feasibility and effectiveness of focused ultrasound on the acne of rabbit ear.Methods Eighteen male rabbits were randomly divided into blank control group,model control group and ultrasound irradiation group.Acne rabbit ear model was established by Kligman's method in model control group and ultrasound irradiation group.Then,continuous ultrasonic irradiation was given in ultrasound irradiation group.Pathological changes were observed at the time of before and after ultrasound irradiation and 14 days after ultrasound irradiation.Results After modeling,hair follicle expansion,hyperkeratosis,acupoint hypertrophy were observed in blank control group.Compared with blank control group,the thickness of horn layer,the sebaceous gland diameter and other index in model controlgroup were statistically significant (P＜0.01);After irradiation,there were hyperemia and edema in epidermis,angiotelectasis and inflammatory infiltrating,but coagulative necrosis in slice was not observed,14 days later,hair follicle mild expansion,mild keratosis,spiny thinning were observed in ultrasound irradiation group,when compared with model control group,the thickness of horn layer,sebaceous gland diameter and other index were decreased in ultrasound irradiation group,and the differences were statistically significant(P＜0.01).Conclusion The ultrasonic focusing treatment on rabbit ear acne is feasible and effective.