This nursing interactive system, based on hospital information system, minimizes manual repetitions of nurses and their cross-space communication problems. It provides an accurate and intuitive information display and communication channel for clinical nursing care, which can also provide a preliminary evaluation of its application effects. On such basis, the authors propose that building such a system is a necessity in nursing informationization, as it elevates nursing efficiency, scientific management and patient safety.

OBJECTIVE: To explore cytogenetic characteristics and fertility of carriers of complex chromosome rearrangements (CCR) from Henan region. METHODS: G-banded karyotyping analysis was carried out on peripheral blood lymphocytes derived from 160 601 patients with reproductive abnormalities. Relevant literature was retrieved from domestic and overseas databases. Cytogenetic characteristics and clinical data of CCR carriers were analyzed. RESULTS: Twenty-seven CCR carriers were identified among the 160 601 patients. In addition, 6 cases were identified from the database research. Among the 33 CCR carriers, there were 17 three- and four-way exchange cases (51.5%), 10 double two-way exchange cases (30.3%), and 6 unusual CCRs (18.2%). Infertility was noted in 14 (42.4%) of the CCR carries. A total of 38 pregnancies were achieved in the remaining 19 cases (57.6%), among which spontaneous abortions or embryonic losses have occurred in 89.5% (34/38), multiple congenital abnormalities have occurred in 7.9% (3/38), while phenotypically normal offspring have occurred in 2.6% (1/38). Chromosomes 1, 11, 2, 4, 5 and 12 were more frequently involved, with their breakpoints occurred more than 3 times at 1p22, 11q23, 12p13 and 22q11. CONCLUSION CCR carriers are at a higher risk for abnormal pregnancies. Even for those with normal pregnancy, prenatal diagnosis should be provided. Chromosomes and their breakpoints involved in CCR may affect the fertility of CCR carriers. Analyzing the types of CCR and involved chromosomes and breakpoints can facilitate genetic counseling for CCR carriers.
Chromosome Aberrations ; Cytogenetic Analysis ; Female ; Fertility ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Translocation, Genetic

Objective:Based on the analysis of case report and case series studies involving COVID-19 pregnant women in China, we aimed to discuss the updated management requirements for publication of scientific papers at hospitals in the new circumstances and context.Methods:The case report and case series studies published by domestic scholars in the early stage of COVID-19 outbreak were retrieved. Bibliometrics were used to analyze the research time, research content and research objects of the included literatures.Results:Nearly 200 cases (55%) of the 360 cases of COVID-19 pregnant women could not be clearly excluded from the possibility of repeated reporting. However, all these cases were not disclosed in the paper for possible repeated report.Conclusions:Potential repeated report problem may cause trouble for later meta-analysis, which also may have negative impact for the development of clinical guidelines. The departments of scientific research management at hospital should pay more attention to the management of patient′s data in scientific papers, so that it can better serve the accurate assessment of disease characteristics and epidemic situation, as well as the scientific formulation of clinical guidelines and control strategies.

OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with disorders of sex development (DSD). METHODS: Five children with DSD who presented at the First Affiliated Hospital of Zhengzhou University from October 2019 to October 2020 were enrolled. In addition to chromosomal karyotyping, whole exome sequencing (WES), SRY gene testing, and CNV-seq were also carried out. RESULTS: Child 1 and 2 had a social gender of female, whilst their karyotypes were both 46,XY. No pathogenic variant was identified by WES. The results of CNV-seq were 46,XY,+Y (1.4) and 46,XY,-Y (0.75), respectively. The remaining three children have all carried an abnormal chromosome Y. Based on the results of CNV-seq, their karyotypes were respectively verified as 45,X[60]/46,X,del(Y)(q11.221)[40], 45,X,16qh+[76]/46,X,del(Y)(q11.222),16qh+[24], and 45,X[75]/46,XY[25]. CONCLUSION CNV-seq may be used to verify the CNVs on the Y chromosome among children with DSD and identify the abnormal chromosome in those with 45,X/46,XY. Above results have provided a basis for the clinical diagnosis and treatment of such children.
Humans ; Child ; Female ; DNA Copy Number Variations ; Chromosome Aberrations ; Karyotyping ; Exome Sequencing ; Disorders of Sex Development/genetics*

Objective To explore the effect and safety of ice compress combined with early walking training on postoperative rehabilitation in patients with total hip arthroplasty (THA) without drainage. Methods Totally 84 THA patients from Zhejiang Provincial People′s Hospital were recruited in this study during April 2015 to March 2016 by using purposive sampling method. According to the random number table (i.e. hospital ID),the participants were divided into the intervention group (n=42) and the control group (n=42). Patients in the control group received drainage tubes after THA,and started walking training after removing the tubes. However,patients in the intervention group didn′t receive drainage tubes after THA but received ice compress,and started walking training within 24 hours after surgery. The postoperative complications,the pain, swelling degree,hemoglobin change,time of recoving independent walking,activities of daily living (ADL),and average inpatient days of patients in two groups were observed and compared.Results The pain scores within 24 hours and 25-48 hours after surgery for the intervention group were (2.38±1.13) and (1.90±1.06),which were lower than the scores [(3.26±1.38) and (2.41±1.0)] for the control group (t=3.283,2.487;P<0.05). But the pain scores 49-72 hours after surgery had no statistical differences between two groups (t=-1.185;P>0.05). Similarly,there were no differences between two groups in wound swelling and hemoglobin change (t=-1.221,-0.294;P>0.05). The ADL scores one week and two weeks after THA surgery for the intervention group were (70.12±9.96) and (75.00±7.89),which were higher than the scores [(64.52±9.9) and (70.21±9.3)] for the control group (t=2.577,2.588;P<0.05). While the ADL scores that one month after surgery had no statistical differences between two groups (t=-1.185,P>0.05). The time of recoving independent walking in the control group was longer than that in the intervention group [(3.71±1.59) d vs (5.20±2.03) d;t= -3.848;P<0.05]. The average hospitalization time in the intervention group was shorter than that in the control group [(9.29±4.03) d vs (11.07±3.28) d;(t=2.283;P<0.05)]. No complications (e.g. dislocation,infection,and symptomatic deep venous thrombosis) were observed after three months′ follow-up.Conclusions The ice compress combined with early walking training is beneficial for postoperative rehabilitation in THA patients without drainage. It can improve patients′ independent walking function and self-care ability and can accelerate the rehabilitation process.

Objective? To establish a digital protection system for incontinence-associated dermatitis based on earlier prevention to reduce the incidence of incontinence-associated dermatitis. Methods? Based on the informationization of nursing platform, we run the digital protection system module of incontinence-related dermatitis based on the forward moving of the prevention gateway in Zhejiang Provincial People＇s Hospital. Through comparative study, 108 patients with incontinence and incontinence-related dermatitis from January to March 2018 were randomly selected as the pre-operation data, and 108 patients with incontinence and incontinence-related dermatitis from January to March 2019 as the post-operation data. The nurses of the two groups were observed and compared in terms of their assessment accuracy in patients＇ incontinence risk, position and Incontinence Associated Dermatitis Severity(IADS), clinical staging, and implementation of prevention strategies. Meanwhile, the incidence of incontinence-related dermatitis among all inpatients in the hospital from January to March in 2018 was compared with the same period of 2019. Results? After the operation of the digital protection system for incontinence-related dermatitis based on earlier prevention, the nursing staff's accuracy rate in the risk assessment of incontinence (χ2=38.095,P＜0.01), IADS (χ2=64.901,P＜0.01), clinical staging accuracy (χ2=42.424,P＜0.01) and the implementation of protective measures (χ2=50.000, P＜0.01) had significant statistical differences. The incidence of incontinence-related dermatitis in hospitalized patients decreased from 0.35% before operation to 0.06% after operation with statistical significance(χ2=41.031, P＜0.01). Conclusions? The operation of the digital protection system for incontinence-associated dermatitis based on earlier prevention can reduce the incidence of incontinence-associated dermatitis and improve the prevention and management competence of nursing staff.

Objective:To systematically evaluate the real experience of living related organ transplantation donors from relatives and provide evidence-based basis for medical and nursing staff to develop personalized intervention measures.Methods:Qualitative study on the real experience of living related organ transplantation donors from relatives was searched on PubMed, Web of Science, Cochrane Library, Embase, China National Knowledge Infrastructure, WanFang Data, VIP, and Biology Medicine disc. The search period was from database establishment to August 31, 2022. The article was evaluated using the quality evaluation criteria for qualitative study of the Australian Joanna Briggs Institute (JBI) Evidence-Based Healthcare Center. We converged the results and performed Meta-synthesis.Results:A total of 15 articles were included, 32 research results were extracted, and summarized and integrated into 13 new categories. A total of 5 integration results were synthesized, including the motivation to donate, the pressure and challenges faced before transplantation, the physical and mental discomfort caused by donation, the positive impact of donation, and the desire for support and needs from various aspects.Conclusions:Donors of living related organ transplantation have multiple psychological experiences during the process of organ donation. Nurses should dynamically assess the pressure and challenges faced by donors, provide diverse support to meet their needs, help donors actively respond, and improve their quality of life.

OBJECTIVE: To analyze the clinical phenotype and genetic variants in five Chinese pedigrees affected with Dysferlinopathy. METHODS: Next generation sequencing (NGS) was carried out for the probands from the five pedigrees. Suspected variants were validated by Sanger sequencing. Pathogenicity of the variants was assessed based on the standards and guidelines by the American College of Medical Genetics and Genomics (ACMG). RESULTS: Ten DYSF gene variants (including 5 frameshift variants, 3 splicing variants, 1 missense variant and 1 nonsense variant) were detected. Among these, c.1375dupA (p.Met459Asnfs*15), c.610C>T (p.Arg204X), c.1180+5G>A and c.1284+2T>C were known to be pathogenic, while c.4008_4010delCCTinsAC (p.Leu1337Argfs*8), c.1137_1169del (p.379_390del), c.754A>G(p.Thr252Ala), c.1175_1176insGCAGAGTG (p.Met394Serfs*7), c.3114_3115insCGGC (p.Arg1040Profs*74) and c.1053+3G>C were unreported previously. Of the six novel variants, c.1137_1169del, c.1175_1176insGCAGAGTG and c.3114_3115insCGGC were predicted as pathogenic (PVS1+PM2+PM3), c.4008_4010delCCTinsAC as likely pathogenic (PVS1+PM2), c.754A>G and c.1053+3G>C as variants of uncertain significance based on the ACMG standards and guidelines. CONCLUSION Variants of the DYSF gene probably underlay Dysferlinopathy in the patients among the five pedigrees. Above finding has enriched the spectrum of DYSF gene variants.
Humans ; Muscular Dystrophies, Limb-Girdle/genetics* ; Mutation ; Pedigree ; Phenotype ; RNA Splicing

OBJECTIVE: To explore the genetic basis for a rare case with Disorder of sex development. METHODS: Clinical data of the patient was collected. Chromosomal karyotyping, SRY gene testing, whole exome sequencing (WES), low-coverage massively parallel copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), and whole genome sequencing (WGS) were carried out. RESULTS: The patient, a 14-year-old female, had manifested short stature and dysplasia of second sex characteristics. She was found to have a 46,XY karyotype and positive for the SRY gene. No pathogenic variant was found by WES, except a duplication at Yp11.32q12. The result of CNV-seq was 47,XYY. FISH has confirmed mosaicism for a dicentric Y chromosome. A 23.66 Mb duplication on Yp11.32q11.223 and a 5.16 Mb deletion on Yq11.223q11.23 were found by WGS. The breakpoint was mapped at chrY: 23656267. The patient's karyotype was ultimately determined as 46,X,psu idic(Y)(q11.223)/46,X,del(Y)(q11.223). CONCLUSION The combination of multiple methods has facilitated clarification of the genetic etiology in this patient, which has provided a reference for the clinical diagnosis and treatment.
Female ; Humans ; Adolescent ; DNA Copy Number Variations ; In Situ Hybridization, Fluorescence ; Y Chromosome ; Sexual Development ; Mosaicism

OBJECTIVE: To assess the value of low-depth whole-genome copy number variation sequencing (CNV-seq) for the analysis of chromosomal copy number variations among fetuses with echogenic bowel (EB). METHODS: A total of 163 fetuses were included in this study. Amniotic fluid (162 cases) or chorionic villi (1 case) were collected and subjected to CNV-seq for the analysis of CNVs. RESULTS: Thirteen (8.0%) pathogenic CNVs were detected, including 9 (5.5%) aneuploidies and 4 (2.4%) CNVs. The detection rate of the isolated EB group and combined EB group were 1.7% (1/58) and 11.4% (12/105), respectively. There was a significant difference between the two groups (P < 0.05). A Xp22.1 duplication was detected in both groups, and the fetuses were predicted as female DMD carriers and born healthy. Nine cases of aneuploidies and 2 (likely) pathogenic CNVs were identified in the combined EB group, all of them have warranted induced labor. CONCLUSION The prevalence of chromosomal aneuploidies and pathogenic CNVs in fetuses with combined EB was much higher than isolated EB, and most of them may warrant termination of pregnancy. Compared with isolated EB, more attention should be paid to combined EB, for which prenatal diagnosis and genetic counseling should be carried out in time.
Amniotic Fluid ; Aneuploidy ; Chromosome Aberrations ; DNA Copy Number Variations ; Echogenic Bowel ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Technology