Summary of best evidence and practice recommendations for nonpharmacological interventions of urinary incontinence in elderly women / 中华健康管理学杂志

Objective:To integrate the best evidence of non-drug intervention of urinary incontinence in elderly women and to formulate practical recommendations.Methods:In this systematic review study, using “elderly woman”,“urinary incontinence”,“bladder training”,“pelvic floor muscle training”,“enuresis”,“leakage of urine” as the key words, the 6S evidence resource pyramid model was used to search in British Medical Journal best practice, Uptodate, World Health Organization, Guidelines International Network, National Institute for Health and Care Excellence, Chinese Medical Association, Scottish Intercollegiate Guideline Network, Registered Nurses Association of Ontario, Cochrane Library, The Joanna Briggs Institute (JBI), New Zealand Guidelines Group, Polish Society of Gynecologists and Obstetricians, PubMed, Embase, Medline, Web of Science, SinoMed, China National Knowledge Infrastructure, WanFang Data, etc. The evidence retrieved included evidence-based knowledge base resources, clinical practice guidelines, expert consensus, systematic review, etc. Data were retrieved from January 1, 2017 to May 1, 2022, and collated from May 2, 2022 to May 25, 2022. Two researchers independently evaluated the quality of literature and extracted data using the AGREE Ⅱ and JBI evidence-based health care center assessment tools. The JBI evidence-based health care center′s evidence pre-rating system and evidence recommendation rating system were applied to rank the evidence; and under the guidance of the evidence structure of JBI, the strength of evidence recommendation was determined and the best evidence was extracted and summarized in combination with the study group discussion and expert opinion.Results:A total of 9 articles were retrieved, including 7 guidelines and 2 systematic reviews; and 6 guidelines were classified as Grade A and 1 as grade B; both 2 systematic reviews were rated as Grade A; 84% (27/32) of the items were evaluated as “Yes”. Evidence were summarized as 34 pieces of best evidence from 6 dimensions, including “overall recommendation, evaluation of type and degree of urinary incontinence, lifestyle change, behavioral therapy, prevention of precipitating factors, intervention in special population”; the flow chart of screening, evaluation, special symptoms, life style and behavior therapy was combed, and the practical suggestions were formed.Conclusions:The overall quality of the literature on non-drug intervention of urinary incontinence in elderly women is high, and the level of evidence is high. Early identification of urinary incontinence types and assessment of disease severity, lifestyle changes, avoidance of predisposing factors and behavioral therapy are the key to non-drug treatment of urinary incontinence in those patients.

Analysis of clinical phenotype and pathogenic variant of a fetus with Cornelia de Lange syndrome type II / 中华医学遗传学杂志

OBJECTIVE@#To explore the prenatal ultrasonographic features and genetic basis for an abortus suspected for type II Cornelia de Lange syndrome (CdLS2).@*METHODS@#A fetus diagnosed with CdLS2 at the Shengjing Hospital Affiliated to China Medical University on September 3, 2019 was selected as the study subject. Clinical data of the fetus and family history was collected. Following induced labor, whole exome sequencing was carried out on the abortus. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Prenatal ultrasonography (33 weeks of pregnancy) has revealed multiple anomalies in the fetus, which included slightly widened cavity of septum pellucidum, blurred corpus callosum, slightly reduced frontal lobe volume, thin cortex, fusion of lateral ventricles, polyhydramnios, small stomach bubble, and digestive tract atresia. Whole exome sequencing has revealed a heterozygous c.2076delA (p.Lys692Asnfs*27) frameshifting variant in the SMC1A gene, which was found in neither parent and was rated as pathogenic based on the guidelines of American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The CdLS2 in this fetus may be attributed to the c.2076delA variant of the SMC1A gene. Above finding has provided a basis for genetic counseling and assessment of reproductive risk for this family.

Current immune therapeutic strategies in advanced or metastatic non-small cell lung cancer / 中华医学杂志(英文版)

Immune escape mechanisms in non-small cell lung cancer (NSCLC) can disrupt every step of the anti-cancer immune response. In recent years, an increased understanding of the specific mechanisms fueling immune escape has allowed for the development of numerous immunotherapeutic treatments that have been introduced into the clinical practice. The advent of immunotherapy has dramatically changed the current treatment landscape of advanced or metastatic NSCLC because of its durable efficacy and manageable toxicity. In this review, we will first present a brief overview of recent evidence on immune escape mechanisms in NSCLC. We will then discuss the current promising immunotherapeutic strategies in advanced or metastatic NSCLC tumors.

Research progress of congenital pulmonary airway malformation-volume ratio in perinatal management of fetal congenital pulmonary airway malformation / 中华围产医学杂志

Congenital pulmonary airway malformation-volume ratio (CVR) greater than 1.6 or 2.0 cm2 was considered to be helpful in predicting fetal hydrops and could serve as an indicator for steroid application, forecasting respiratory symptoms, and the timing of surgery after birth. However, the optimal CVR threshold remains controversial. This review focuses on the value of CVR in fetal prognosis, steroid administration, and the prediction of postnatal respiratory symptoms and surgical timing in fetuses with congenital pulmonary airway malformation, aiming to guide the perinatal management.

Analysis of staged two-way evaluation results of Milestones evaluation system on obstetrics and gynecology residents / 中华医学教育探索杂志

Objective:To evaluate the standardized residency training of obstetrics and gynaecology in Shengjing Hospital of China Medical University with Milestones evaluation system of obstetrics and gynecology, and to evaluate the feedback effect of the system.Methods:An improved Milestones evaluation form was developed to evaluate the self-evaluation and clinical tutor's scores, collect the results and make a statistical analysis of the 1-3 years standardized training residents of the Shengjing Hospital of China Medical University in September 2019. GraphPad Prism 8 software was used for data collection and statistical analysis, and Box-Plots software was used for drawing analysist. Descriptive statistics method was used for the general situation of the research objects. After the students' self-evaluation and tutor's scores passed the normal distribution and variance homogeneity test, paired t test was performed, and the scores of residents from different sources were analyzed by variance analysis. Results:A total of 164 residents of obstetrics and gynaecology were evaluated, and there were significant differences between self-evaluation and teacher's evaluation in medical knowledge, learning ability and system work ( P<0.05). The competency scores of the first year residents ranged from 3.003 to 4.556, and at the end of the course they increased to 4.921 to 5.974, showing statistically significant differences in each item compared with the first year ( P<0.001). After three years of training, residents from different sources showed significant improvement ( P<0.001). Conclusion:The Milestones evaluation system of the obstetrics and gynecology can be used for the training assessment and feedback of the residents in obstetrics and gynecology specialty. The self-assessment of residents helps to understand the level of self-assessment, and the teacher's evaluation helps to correct the bias generated by self-assessment. The systematic and staged Milestones evaluation system can instruct the clinical tutors to instruct the residents in accordance with their aptitude, and give feedback on the training effect of the residency training base.

Application of homology modeling technique in congenital cardiovascular disease / 国际儿科学杂志

Congenital cardiovascular disease is a kind of congenital disease caused by the interaction of multiple factors such as heredity, environment and pregnancy infection, but its exact etiology is still unclear.With the deepening of research, more and more evidences show that genetic factors play a significant role in its pathogenesis.Many genes are involved in the development of heart embryos, and the mutation of these genes often leads to congenital cardiovascular diseases.Homology modeling is a technique to predict the structural and functional changes of proteins caused by gene mutation through computer algorithm, and its application in the pathogenesis of congenital diseases has become a future trend.The purpose of this paper is to review homology modeling and its application in pathogenesis of congenital cardiovascular diseases briefly.

Clinical characterization and genetic testing for a patient with creatine deficiency syndrome 1 / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child affected with cerebral creatine deficiency syndrome 1 (CCDS1).@*METHODS@#High-throughput sequencing was carried out to screen pathogenic variant associated with the clinical phenotype of the proband. The candidate variant was verified by Sanger sequencing.@*RESULTS@#High-throughput sequencing revealed that the proband has carried heterozygous c.327delG variant of the SLC6A8 gene, which was verified by Sanger sequencing.Neither parent was found to carry the same variant.@*CONCLUSION@#The de novo heterozygous c.327delG variant of the SLC6A8 gene probably underlay the CCDS1 in this child.

Identification of pathogenic variant and preimplantation genetic testing for a Chinese family affected with osteogenesis imperfecta / 中华医学遗传学杂志

OBJECTIVE@#To identify the pathogenic variant for a husband with osteogenesis imperfecta and provide preimplantation genetic testing (PGT) for the couple.@*METHODS@#High-throughput sequencing and Sanger sequencing were carried out to identify the pathologic variant in the husband patients. PGT of embryos was performed through direct detection of the mutation site. Meanwhile, chromosome aneuploidy of the blastocysts was screened. Following transplantation, cytogenetic and genetic testing of fetal amniotic fluid sample was carried out during mid-pregnancy. Chromosome copy number variant (CNV) was detected at multiple sites of the placenta after delivery.@*RESULTS@#The husband was found to harbor heterozygous c.544-2A>G variant of the COL1A1 gene. The same variant was not detected in either of his parents. PGT revealed that out of three embryos of the couple, one was wild-type for the c.544-2A site but mosaicism for duplication of 16p13.3.11.2. The other two embryos were both heterozygous for the c.544-2A>G variant. Following adequate genetic counseling, the wild-type embryo was transplanted. Amniotic fluid testing confirmed that the fetus had normal chromosomes and did not carry the c.544-2A>G variant. The copy number of chromosomes at different parts of placenta was normal after birth.@*CONCLUSION@#For couples affected with monogenic disorders, e.g., osteogenesis imperfecta, direct detection of the mutation site may be used for PGT after identifying the pathogenic variant. After adequate genetic counseling, prenatal diagnosis must be carried out to ensure the result.

Transcription factor TBX20 and pathogenesis of congenital heart disease / 国际儿科学杂志

TBX20 gene, a member of the T-box gene family, plays an important role during heart development and is required for maintaining adult heart function.TBX20 can act as both transcriptional activator and transcriptional suppressor during the development of the heart, and shows complex spatiotemporal regulation.TBX20 is an important candidate transcription factor for the pathogenesis of congenital heart disease(CHD), and its mutation or expression change can lead to the occurrence of CHD.In this paper, the latest research progress of TBX20 gene in the field of heart development is reviewed from the relationship between TBX20 and CHD, the signaling pathway involved in heart development and its interactions with other cardiac transcription factors.

Unqualified rate of anti-HIV detection in the laboratories from blood banks in Beijing-Tianjin-Hebei region / 中国输血杂志

【Objective】 To investigate the unqualified rate of anti-HIV detection of blood screening laboratories in Beijing-Tianjin-Hebei region, and explore the differences in anti-HIV detection ability and influencing factors in each laboratory. 【Methods】 Through filling questionnaires via e-mail, the anti-HIV ELISA unqualified rate and confirmed (WB) positive results (data) from January to December 2018 from 15 blood screening laboratories in Beijing-Tianjin-Hebei region were collected. Our laboratory was responsible for data collection and confirmation, and statistics software SPSS22.0 was used for analysis. 【Results】 1) There was a statistically significant difference among the unqualified rate of anti-HIV ELISA(6.77‱~35.71‱) and confirmed positive rate(0.60‱~3.56‱) in 15 blood screening laboratories in Beijing-Tianjin-Hebei region (P<0.05); 2) There were significant differencse among the ELISA unqualified rate and the confirmed positive rate of 8 reagents for anti-HIV detection(P<0.01), and the sensitivity of the 4th generation detection reagent and the imported reagent was higher than that of the 3rd generation reagent and the domestic reagent. The anti-HIV ELISA unqualified rate of R5 was the highest (19.08‱). 3)There were significant differences in the anti-HIV ELISA unqualified rate of R1, R2, R3, R5 and R7 reagents among different blood station laboratories(P<0.05), and there were no significant differences in the anti-HIV ELISA unqualified rate of R4, R6 and R8 reagents among different blood station laboratories(P>0.05). 4)The unqualified rate of anti-HIV ELISA of laboratories using different regents showed significant differences(P<0.05), except H, J, M. The unqualified rate of imported reagent was significantly higher than that of domestic reagents of laboratories using imported and domestic reagents combinations(P<0.05), except O. 62.5% (5/8) laboratories using domestic 3rd and 4th generation reagent combination showed significant differences in the unqualified rates among different reagents(P<0.05); 5) The positive rate of single-reagent(62.02%~95.45%)in 15 blood screening laboratories showed significant difference(P<0.001), and A was the lowest (62.02%). 【Conclusion】 The anti-HIV detection ability among 15 blood screening laboratories in Beijing-Tianjin-Hebei region is quite different. The application of different reagents is the main factor for the difference, and other factors such as personnel, instruments and test strategies also has a great impact on the detection of anti-HIV. It is still necessary to promote the process of homogenization of blood testing quality among blood screening laboratories in Beijing-Tianjin-Hebei region.

Clinical feature and genetic analysis of a fetus with autosomal recessive polycystic kidney disease / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of a fetus with autosomal recessive polycystic kidney disease (ARPKD).@*METHODS@#Prenatal ultrasonography has revealed oligohydramnios and abnormal structure of fetal kidneys. After careful counseling, the couple opted induced abortion. With informed consent, genomic DNA was extracted from the muscle sample of the abortus and peripheral blood samples of the couple. High throughput whole exome sequencing was carried out to detect potential variants in relation with the disease. Suspected variants were verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed increased size of fetal kidneys, with multiple hyperechos from the right kidney, and multiple hyperechos with anechoic masses within the left kidney. DNA sequencing revealed that the fetus has carried heterozygous variants of the PKHD1 gene, including c.7994T>C inherited from its father, and two heterozygous variants of the PKHD1 gene c.5681G>A from its mother.@*CONCLUSION@#The compound heterozygous c.7994T>C and c.5681G>A variants of the PKHD1 gene probably underlay the pathogenesis of ARPKD in this fetus. Above results can provide guidance for subsequent pregnancies of the couple.

Preliminary study on the application of third-generation sequencing technology for the detection of chromosomal aneuploidies / 中华医学遗传学杂志

OBJECTIVE@#To apply nanopore third-generation sequencing for the detection of chromosomal aneuploidy samples, and explore its performance and application prospects.@*METHODS@#DNA extracted from two human cell lines with X chromosome monosomy and 22.5 Mb deletion in 7q11.23-q21.3 region was sequenced with a MinION sequencer, and the results were analyzed.@*RESULTS@#Respectively, 555 872 and 2 679 882 reads were obtained from the two samples within 24 hours, with genome coverage being 53.75% and 88.63%. With a sequencing depth of 0.81× and 2.40× , respectively, the abnormal chromosomal regions could be detected by comparative analysis using Minimap2.@*CONCLUSION@#With low-depth whole genome sequencing, the use of nanopore third-generation sequencing is expected to complete the detection and analysis of chromosomal aneuploidy samples within 24 hours, but its further application and promotion needs to overcome the cost constraints.

Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS).@*METHODS@#History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect mutations related to the phenotype. Suspected mutations were verified in the parents through Sanger sequencing.@*RESULTS@#Prenatal ultrasound found that the forearms and hands of the fetus were anomalous, in addition with poorly formed vermis cerebellum, slight micrognathia, and increased echo of bilateral renal parenchyma. Examination of the abortus has noted upper limb and facial malformations. Whole exome sequencing revealed that the fetus carried a heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene. The same mutation was not found in either parent.@*CONCLUSION@#The heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene probably underlies the CdLS in the fetus. Above finding has provided a basis for the genetic counseling for the family.

Genetic analysis of three fetusesaffected with cardiac rhabdomyomas / 中华医学遗传学杂志

OBJECTIVE@#To report on echocardiographic finding and genetic testing of three fetuses with cardiac rhabdomyoma.@*METHODS@#Clinical data of the three fetuses was collected. High-throughput sequencing was carried out to analyze the whole exomes of the three fetuses. Suspected variants were confirmed by Sanger sequencing.@*RESULTS@#Multiple hyperechoic masses were found in both ventricles of the three fetuses, suggesting the presence of fetal cardiac rhabdomyoma. Genetic testing revealed that fetus 1 carried a heterozygous c.740G>A (p.W247*) variant of the TSC1 gene, fetus 2 carried a previously known heterozygous c.3352C>T (p.Q1118*) variant of the TSC2 gene. Fetus 3 carried a previously known heterozygous c.1579C>T (p.Q527*) variant of the TSC1 gene. None of their parents carried the same variant. Literature review has identified 109 fetuses with relatively complete data. Cardiac rhabdomyomas in ventricles and ventricular septum was reported in 89, and multiple cardiac rhabdomyoma was reported in 79. Out of the 94 cases who underwent genetic testing, 74 have carried variants of the TSC1 or TSC2 genes.@*CONCLUSION@#Fetal cardiac rhabdomyoma may present as multiple hyperechoic intraventricular masses. Most of them are associated with other manifestation of tuberous sclerosis. Such cases may warrant prenatal genetic testing.

Diagnosis of a fetus with atelosteogenesis type 2 through combined prenatal ultrasonography and whole exome sequencing / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for fetus with short limbs detected by prenatal ultrasonography.@*METHODS@#Results of clinical imaging of the fetus was collected. Amniotic fluid sample was collected through amniocentesis for the extraction of fetal DNA. Whole exome sequencing was carried out to detect variants related to the clinical phenotypes. Candidate variant was verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasound showed that the fetus had short limbs but no other abnormality. Whole exome sequencing has identified that the fetus carried two heterozygous pathogenic variants c.484G>T and c.1436dupA of the SLC26A2 gene, for which its mother and father were heterozygous carriers, respectively.@*CONCLUSION@#The fetus was diagnosed with atelosteogenesis type 2 by combined prenatal ultrasonography and whole exome sequencing, which may be attributed to the compound heterozygous variants of the SLC26A2 gene. Above findings provided evidence for the diagnosis of the fetus and genetic counseling.

Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome / 中华医学遗传学杂志

OBJECTIVE@#To diagnose a fetus with Papillorenal syndrome by prenatal ultrasonography and genetic testing, and to correlate its genotype with phenotype.@*METHODS@#Ultrasound finding of the fetus was reviewed. Muscle sample of the abortus was taken, and genetic variant related to the clinical phenotype was screened by whole exome sequencing (WES). Suspected pathogenic variant was verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed severe dysplasia of the fetal kidneys and oligohydramnios. WES revealed that the fetus has carried a c.736G>T (p.Glu246Ter) nonsense variant of the PAX2 gene, which was unreported previously. The result of Sanger sequencing was consistent with that of WES. Both parents of the fetus were of the wild-type, suggesting a de novo origin of the fetal variant.@*CONCLUSION@#The novel heterozygous c.736G>T (p.Glu246Ter) variant of the PAX2 gene probably underlay the Papillorenal syndrome in the fetus. Above finding has provided a basis for genetic counseling and clinical decision-making.

Effect of integrated medical care, elderly care and nursing management mode on self-care ability and blood pressure management of elderly patients with hypertension / 中华健康管理学杂志

Objective:To explore the effect of medical care, elderly care and nursing management mode on self-care ability and blood pressure management in elderly patients with hypertension.Methods:From July 2018 to June 2019, 164 elderly patients with hypertension admitted into the outpatient department of the ZhejiangHospital were selected as the study objects by convenience sampling method, and randomly divided into the control group and the experimental group, 82 cases in each group. Routine hypertension management mode was given in the control group and medical care, elderly care and nursing management mode was given in the experimental group for 6 months. The Exercise of Self-Care Agency Scale (ESCA) scores and blood pressure control of the two groups were compared before and after intervention.Results:The ESCA total score and self-concept, self-care responsibility, self-care skills, and health knowledge scores of the experimental group were higher than those before intervention [(123.3±17.2) vs. (88.3±10.4) points, (26.8±3.7) vs. (20.6±3.0) points, (22.3±4.2) vs. (16.6±2.1) points, (29.3±4.1) vs. (17.6±2.4) points, (44.9±5.4) vs. (33.5±4.5) points], and higher than those of the control group [(90.0±10.2) points, (21.2±3.2) points, (16.1±2.1) points, (18.2±2.5) points, (34.5±4.2) points] (all P<0.05). The systolic blood pressure and diastolic blood pressure of the two groups after the intervention were lower than those before the intervention [control group: (142.5±7.8) vs. (161.6±8.5) mmHg (1 mmHg=0.133 kPa), (91.3±6.2) vs. (98.6±10.2) mmHg, experimental group: (132.2±8.5) vs. (160.6±8.1) mmHg, (84.2±7.4) vs. (98.1±10.3) mmHg], and the experimental group was lower than the control group (all P<0.05). The blood pressure control rate of patients in the experimental group was 88.8%, which was higher than the control group of 48.6% ( P<0.05). The satisfaction rate of quality of life in the experimental group was higher than that in the control group (28.8% vs. 18.1%), and the dissatisfaction rate was lower than in the control group (18.8% vs. 34.7%) ( P<0.05). Conclusion:The medical care, elderly care and nursing management mode can effectively improve the self-care ability and blood pressure management ability of elderly patients with hypertension.

Investigation of nurses' attitude towards open visitation policy in intensive care unit and analysis of influence factors / 中华危重病急救医学

Objective:To investigate the nurses' attitude towards open visitation policy in intensive care unit (ICU) and its potential influence factors, and further to provide evidence for carrying out this policy in ICU.Methods:A self-designed, anonymous online questionnaire of "attitude of ICU nurses to open visiting system in ICU" was performed in 31 provinces, autonomous regions and municipalities in China from October to December 2019, using convenient sampling method approach. Only nurses working in ICU (including specialized ICU, but excluding the critical ward in general ward) and willing to participate in the survey were included. The survey included 35 items, including the general information of each participant, the attitude towards the implementation of the open visitation system in ICU and its potential influencing factors. Ordinal Logistic regression analysis was used to identify the significant influencing factors.Results:A total of 1 558 questionnaires were sent out and 1 546 effective questionnaires were retrieved, with a response rate of 99.2%. Overall, 32.2% of them agreed with the policy, 41.3% of them disagree with the policy and 26.5% of them were uncertain. The Ordinal Logistic regression analysis showed that the independent influencing factors of ICU nurses' attitude towards open visitation policy including the possibility of increasing healthcare-associated infection [disagree: β = 1.327, 95% confidence interval (95% CI) was 0.242 to 2.413, P = 0.017; uncertain: β = 0.697, 95% CI was 0.244 to 1.151, P = 0.003], the improvement of nurses' job satisfaction (disagree: β = -1.406, 95% CI was -1.750 to -1.062, P = 0.000; uncertain: β = -0.748, 95% CI was -1.030 to -0.466, P = 0.000), the information support for medical staffs from family members (disagree: β = -0.644, 95% CI was -1.048 to -0.240, P = 0.002; uncertain: β = -0.422, 95% CI was -0.721 to -0.124, P = 0.006), the feasibility that the family members can assist the nurses in the basic nursing for patients (uncertain: β = -0.465, 95% CI was -0.729 to -0.202, P = 0.001), reducing the time that a nurse spent on caring for the patients (uncertain: β = 0.349, 95% CI was 0.052 to 0.646, P = 0.021), improving early rehabilitation (disagree: β = -0.593, 95% CI was -1.166 to -0.019, P = 0.043), and getting psychological support for patients from family members (disagree: β = 1.293, 95% CI was 0.426 to 2.159, P = 0.003), family members' satisfaction (disagree: β = -0.981, 95% CI was -1.431 to -0.531, P = 0.000). Conclusion:ICU nurses in China have realized that open visitation policy has positive effect on patients' early rehabilitation, willing to live and satisfaction; meanwhile, this policy may need more improvement in many ways such as healthcare-associated infection control, disinfection and isolation, allocation of human resources and time spent treating and caring for patients.

The effect of psychological counseling on the delivery mode of single birth elder primipara with anxiety and depression / 中国实用护理杂志

Objective:To study the effect of the psychological counseling on the delivery mode of single birth elderly primiparas with anxiety and depression, and to seek a new and effective intervention way to improve the vaginal delivery rate.Methods:A preliminary screening was carried out for 486 single birth elderly primiparas received in the birth cohort research center of China Medical University from April 2018 to September 2019. Among them, 274 cases had mild, moderate or severe anxiety and depression. They were randomly divided into the observation group and the control group (n=137). The control group was given routine nursing measures and simple psychological education and the intervention group was given extra psychological counseling. Psychological counseling adopted the mode of combination of online and offline. The degree of anxiety and depression and the delivery mode were compared between two groups.Results:Before intervention, the degree of anxiety and depression between the observation group and the control group showed no significant difference. After intervention, the degree of anxiety and depression in the observation group was lighter than that of the control group ( χ2 value was 12.782, 6.647, P<0.05). The proportion of cesarean section, vaginal delivery, forceps delivery accounted for 32.1% (44/137), 67.2%(92/137), 0.7%(1/137) in the observation group, and 45.3% (62/137), 54.7%(75/137), 0 in the control group. The difference between the two groups showed statistical significance ( χ2 value was 5.787, P<0.05). Conclusion:The psychological counseling for the single birth elderly primiparas with anxiety and depression can effectively improve the psychological situation and increase the vaginal delivery rate.

Application of single sperm sequencing for preimplantation genetic testing of male patient with achondroplasia / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of single sperm sequencing in preimplantation genetic diagnosis.@*METHODS@#A male patient with achondroplasia due to a de novo FGFR3 variant was subjected to single sperm isolation and sequencing. Twenty single sperm samples were isolated by mechanical immobilization, and their whole genome was amplified. PCR primers were designed for the variant site and 25 flanking single nucleotide polymorphism (SNP) loci, and the PCR products were sequenced to determine the chromosomal haplotype which did not harbor the pathogenic variant. Biopsy samples of 12 embryonic trophoblasts were taken. Following whole genome amplification, high-throughput sequencing was carried out to detect the carrier status of the embryos. Wild type blastocysts were selected for transplantation. Amniotic fluid samples were taken at 19 weeks of gestation to confirm the status of the fetus.@*RESULTS@#Eight SNP were selected by single sperm sequencing, with which the haplotypes were successfully constructed. Preimplantation genetic testing indicated that 5 embryos have carried the pathogenic variant and 7 did not. Testing of amniotic fluid sample during the second trimester of pregnancy confirmed that the fetus did not carry the FGFR3 gene c.1138G>A variant.@*CONCLUSION@#For male patients carrying de novo pathogenic variants, SNP sites can be selected through single sperm sequencing, and haplotypes can be constructed by linkage analysis for preimplantation genetic diagnosis.