Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective:To analyze the correlation between related indexes of serum lipid and insulin resistance and cognitive impairment in middle-aged and elderly people with mild cognitive impairment (MCI).Methods:In this cross-sectional study, 262 middle-aged and elderly patients with a Montreal Cognitive Function Scale (MoCA) cognitive score greater than or equal to 18 points who underwent physical examination in the Health Management Center of Beijing Tiantan Hospital Affiliated to Capital Medical University from January 1 to July 31, 2021 were selected as subjects. According to the cognitive function and MoCA score, the patients were divided into MCI group (143 cases) and normal cognition group (119 cases). Basic data, fasting blood glucose, triglyceride (TG), total cholesterol, apolipoprotein E(ApoE) genotype and other clinical indicators were collected. Hypothesis test was used to compare the differences in basic data, related indicators of blood lipid and insulin resistance between the two groups. Spearman correlation analysis was used to analyze the correlation between related indicators of blood lipid and insulin resistance and MoCA score in the two groups.Results:The age and the proportion of patients with hypertension, coronary heart disease and diabetes in the MCI group were all significantly higher than those in normal cognition group [(54.83±8.29) vs (50.76±6.34) years, 37.76% vs 31.93%, 4.20% vs 0.84%, 16.08% vs 8.40%] (all P<0.05). The elevation of serum TG ( r=-0.50, 95% CI:-0.88--0.12), TG glucose product index (TyG) ( r=-0.75, 95% CI:-1.29--0.20) and TG to high-density lipoprotein cholesterol ratio (TG/HDL-C) ( r=-0.52, 95% CI:-0.91--0.13) were all negatively correlated with MoCA score (all P<0.05). After adjusting for age and gender, the elevation of TG ( r=-0.39, 95% CI:-0.75--0.31) and TG/HDL-C ( r=-0.43, 95% CI:-0.80--0.05) were both still negatively correlated with MoCA score (both P<0.05). There was no significant correlation between all indexes and MoCA scores in the normal cognition group (all P>0.05). The elevated TG was negatively correlated with MoCA score in the MCI group ( r=-0.70, 95% CI:-1.23-0.16, P=0.017). There was no significant correlation between elevated TG and MoCA score in patients carrying ApoE ε2 and ApoE ε3 genotypes in MCI group (all P>0.05). Conclusion:Elevated related indexes of blood lipids and insulin resistance are negatively correlated with cognitive scores in middle-aged and elderly people with MCI, and it′s more obvious in patients with ApoE ε4 genotype.

Local inflammatory reaction and microcirculation disturbance are the early manifestations of acute pancreatitis (AP). Studies have shown that early and reasonable fluid resuscitation of patients with AP can reduce related complications and prevent the deterioration to severe acute pancreatitis (SAP). Traditional isotonic crystalloid (such as Ringer solution) is considered to be a safe and reliable resuscitation solution, but too much and too fast infusion in the early stage of shock will increase the risk of complications such as tissue edema and abdominal compartment syndrome (ACS). Many scholars have found that hypertonic saline resuscitation solution has the advantages of reducing tissue and organ edema, rapidly restoring hemodynamics, inhibiting oxidative stress and inflammatory signal transduction, thereby improving the prognosis of AP patients and reducing the incidence of SAP and mortality. This article summarizes the mechanisms of hypertonic saline in the resuscitation treatment of AP patients in recent years, in order to provide reference for the clinical application and research of AP patients.
Humans ; Pancreatitis ; Acute Disease ; Resuscitation ; Inflammation ; Crystalloid Solutions ; Saline Solution, Hypertonic

Objective:To understand the current situation of effective teaching behavior of clinical nursing teachers and analyze it.Methods:A convenient sampling method was used to conduct a questionnaire survey on nursing students and teaching teachers in Tai′an City central hospital and the Second Affiliated Hospital of Shandong First Medical University, using Cui Shasha Chinese version of Nursing Clinical Teacher Effectiveness Inventory as the research tool.Results:The score of the teachers in the "interpersonal relationship" dimension was the highest (6.32±0.89), while the score in the "nursing ability" dimension was the lowest (5.95±0.99). There was no statistically significant difference between college students and undergraduate students in the evaluation of effective teaching behaviors of teachers, while there was statistically significant difference between nursing students (including college students and undergraduate students) and teachers in all dimensions and total scores of the scale ( t values were -4.616--2.250, P<0.05 or 0.01). Teachers and students were more consistent with the 10 items with low scores than the 10 items with high scores (the total number of items was 2 and 5, respectively). Conclusions:The teaching teacher should be able to correctly identify and judge the learning needs of the internship nursing students, so that the teaching effect meets the expectations of the internship nursing students, and should be targeted when teaching internship nursing students of different educational levels as well as focusing on nursing research.

Objective:To systematically evaluate the effects of different umbilical cord time on maternal and fetal outcomes.Methods:Meta analysis was used, CNKI, Wanfang, VIP, PubMed, The Cochrane Library, EBSCO, Web of Science database, etc. were searched. The literatures were screened according to the inclusion and exclusion criteria, and the literature quality was evaluated. Revman 5.2 software was used for data processing and analysis.Results:A total of 9 randomized controlled trials were included. Meta-analysis showed that delayed umbilical cord did not increase postpartum 2,24 h hemorrhage[mean difference ( MD)=-40.69, 95%confidence interval (CI) (-83.05-1.67), P>0.05 and MD=-10.33, 95% CI (-22.47-1.81), P>0.05] and did not prolong the third stage of labor [ MD= 0.32, 95% CI (-0.71-1.35), P>0.05] compared with conventional umbilical cord (early umbilical cord) method. 1,5 min Apgar scores for different neonatal umbilical cord time was not statistically significant[ MD=0.05, 95% CI (-0.02-0.12), P>0.05 and MD=-0.01, 95% CI (-0.04-0.03), P>0.05]. There was no significant difference in neonatal weight [ MD=72.91, 95% CI (-53.98-199.80), P>0.05]. Delayed umbilical cord could improve the newborn's 24 h capillary hemoglobin [ MD=17.69, 95% CI (13.55-21.83), P<0.01] and bilirubin peak [ MD=17.50, 95% CI (11.88-23.12), P<0.01]. Conclusions:Delayed umbilical cord and early umbilical cord did not increase postpartum hemorrhage and prolong the third stage of labor, and had no adverse effects on maternal. The peak levels of capillary hemoglobin and bilirubin in newborns were increased 24 h, but there was no significant difference in neonatal 1 min and 5 min Apgar scores and neonatal weight.

Objective:To discuss the necessity and feasibility of constructing the baccalaureate midwifery education standard in China by the comparative study of WHO and ICM education standards, combined with China's medical nursing education standards.Methods:We searched the scientific literature using the databases of CNKI, Wanfang, VIP and the official websites of WHO and ICM. Comparative study was conducted combined with the literature study, analyze the specific fields and indicators required for baccalaureate midwifery education standards in China.Results:ICM standard is more accord with the actual needs of the construction of baccalaureate midwifery education standard in China.Conclusion:It is feasible and necessary to construct the baccalaureate midwifery education standard according to ICM standards, this study further provides reference and basis for constructing the baccalaureate midwifery education standard in China.

Objective:To evaluate the quantity and function changes of dendritic cells ( DC) in peripheral blood of patients with repeated implantation failure ( RIF).Methods:30 patients with RIF and 15 normal controls were enrolled in this study,and the peripheral blood was collected during the mid-luteal phase.The percentage of DC subsets and the expression levels of functional molecules were assessed by flow cytometric analysis.Results:Compared with normal controls,the percentage of lin-HLA-DR+DC cells accounting for leukocytes in patients with RIF was not significantly different ( P>0.05).There were also no significant differences in the expression levels of co-stimulatory molecules ( CD80 and CD86) and immune tolerant molecules CD200 on DC cells surfaces between patients with RIF and normal controls ( all P>0.05).In addition,the percentage of CD11c+CD123-mDC accounting for DC cells was significantly increased in patients with RIF (P<0.05),however,the percentage of CD11c-CD123+pDC was similar (P>0.05). Conclusion:The percentage of mDC accounting for DC cells was significantly increased in patients with RIF, which may be one of factors affecting pregnancy outcomes.

Objective To assess the health status of rodent laboratory animals by pathological diagnosis, our lab has being take apart in investigating the quality of laboratory animals in Beijing area for years and offer some advices for standardized breeding to ensure accurate results of scientific research.This paper focuses on the analysis of laboratory rodent samples that collected in October 2014.Methods We collected the heart, liver, spleen, lung, kidney, large intestine and small intestine, and put these organs into 10%Calcium formaldehyde solution for fixation, and then prepared into two different sections for optical microscopy observation including all paraffin specimens stained with H&E and the frozen sections stained with Oil Red-O and PAS.Results The vast majority of laboratory rodents were up to standard, but there still a problem in individual units.The main problem is liver and lung disease.The rate of Hepatocyte swellingis 6%(mouse), 2.5% (rat), 8.2% (guinea pig), moreover part of them were lipidosis, according to Oil Red-O stain.the mainly problem of lung is congestion ,edema and Interstitial pneumonia ,the detectable rate of pulmonarydiseases is 15.5%(guinea pig).Conclusions The vast majority of laboratory rodents were pathologically diagnosed as healthy animals.The liver disease may be caused by improper feeding.And disease of lung may led by haze, unqualified bedding and low temperature.

OBJECTIVEA systematic review of literature was performed to compare various visual function parameters including the final visual acuity outcome and/or adverse events between corneal refractive surgery (CLRS) and phakic intraocular lens implantation (p-IOLi) in the treatment of refractive amblyopic children.

DATA SOURCESTwo reviewers independently searched the PubMed, EMBASE, and Controlled Trials Register databases for publications from 1991 to 2013.

STUDY SELECTIONThere were 25 articles, including 597 patients and 682 eyes, was included in CLRS group. Among them, 21 articles reported the use of CLRS in the treatment of myopic anisometropia for 318 patients (13 photorefractive keratectomy or laser epithelial keratomileusis and eight laser in situ keratomileusis). And 11 articles had the results of CLRS in treating hyperopic anisometropic amblyopia children. Eleven articles reported the effect of p-IOLi for treating high myopia or anisometropic amblyopia, including 61 patients (75 eyes). Age, pre- and postoperation best-corrected vision acuity (BCVA), and spherical equivalent (SE) were compared in CLRS and p-IOLi groups.

RESULTSThe average age of CLRS group and p-IOLi group has no statistically significant difference. The SE in CLRS group for myopic anisometropia amblyopia patients was (-10.13 ± 2.73) diopters (D) and for hyperopic anisometropia amblyopia patients was (5.58 ± 1.28) D. In p-IOLi group the SE was (-14.01 ± 1.93) D. BCVA was improved significantly in both groups, and even better in p-IOLi group. Refractive errors were corrected in both groups, but there was no clinically significant difference in final SE between each group. More than one-half of the children had improved binocular fusion and stereopsis function in both groups.

CONCLUSIONSBoth CLRS group and p-IOLi group showed their advantage in treating refractive amblyopia in children. In comparing p-IOLi with CLRS for treatment of refractive amblyopia, no statistically significant difference in final BCVA was observed.

Amblyopia ; etiology ; surgery ; therapy ; Anisometropia ; complications ; Child ; Child, Preschool ; Humans ; Myopia ; complications