Objective·To explore EDAR(ectodysplasin A receptor)gene variants that lead to congenital tooth agenesis,and preliminarily analyze the reasons why variants in EDAR can cause both syndromic and non-syndromic tooth agenesis.Methods·Patients with congenital tooth agenesis admitted to the Department of 2nd Dental Center,Shanghai Ninth People's Hospital,Shanghai Jiao Tong University School of Medicine and their family members were included,and genomic DNA from their peripheral blood was extracted for whole exome sequencing(WES).After preliminary screening,PolyPhen-2,Mutation Taster,and Provean were used to predict the harmfulness of potential variants.The screened variants in patients and their families were verified by Sanger sequencing.Conservation analysis of variants was performed,and Swiss-Model was used to analyze the changes in the three-dimensional structure of EDAR.The teeth and syndromic phenotype of the patients and their family members were investigated.Results·Among the included congenital tooth agenesis patients,five patients with EDAR mutations were found,one with EDAR frameshift mutation c.368_369insC(p.L123fs)and the other four with EDAR missense mutations.Two of these four patients were diagnosed as non-syndromic tooth agenesis(NSTA),resulted from c.77C＞A(p.A26E)homozygous mutation and c.380C＞T(p.P127L)heterozygous mutation,respectively.The other two patients with two variants were diagnosed as hypohidrotic ectodermal dysplasia(HED).One compound heterozygous missense mutation patient carried EDAR c.77C＞T(p.A26V)from her father andEDAR c.1281G＞C(p.L427F)from her mother;the other patient with both EDAR and EDA mutations carried EDAR c.1138A＞C(p.S380R)heterozygous mutation and EDA c.1013C＞T(p.T338M)hemizygous mutation.Both variants were from his mother and were reported to be related with NSTA.Two of these missense mutations,EDAR c.1281G＞C(p.L427F)and EDAR c.77C＞A(p.A26E),had not been reported before.The missense mutations affected the protein's spatial conformation by altering the polarity,charge,or volume of the amino acid residues.The frameshift mutation caused a non-triplet base addition,which probably led to protein truncation or degradation.Conclusion·Two new EDAR missense mutations are discovered.An NSTA patients with EDAR homozygous mutations and an HED patient with both EDA and EDAR mutations are reported.It expands the understanding of pathogenic mechanisms of EDAR mutations causing HED and NSTA.

Objective:To understand the cognition and training status of basic life support among medical staff in Linfen, Shanxi Province, and to provide reference for the development of targeted training strategies and programs.Methods:A questionnaire survey was conducted among medical staff in 12 county hospitals in Linfen, Shanxi Province by convenience sampling method. The survey included the general characteristics of departments and medical staff, previous basic life support training assessment and cognitive status.Results:A total of 839 medical staff were included, 756 (90.1%) completed the survey, 183 (24.2%) were doctors and 573 (75.8%) were nurses. Most personnel lacked awareness of environmental safety, emergency response system start-up, adequate compression, airway management, and electrical defibrillation.Conclusions:The cognitive status of basic life support of medical staff in Linfen county is not optimistic. It is necessary to construct an applicable precision training course and retraining assessment system to improve the cognitive level and practical operation ability.

Objective:To explore the relationship between psychological distress and intimacy in stroke patients and the mediating effect of different dyadic coping style, to provide theoretical guidance for improving the intimate relationship of stroke patients.Methods:A convenient sampling method was used to select 203 patients with stroke who visited the General Hospital of Ningxia Medical University, the People's Hospital of Ningxia Hui Autonomous Region and the Department of Neurology of Yinchuan First People's Hospital from December 2020 to July 2021 as the survey objects. The general information questionnaire, Kessler Psychological Distress Scale, Quality of Relationship Index and Dyadic Coping Inventory were used to investigate patients.Results:The scores of psychological distress, intimate relationship, positive dyadic coping and negative dyadic coping were 19.33 ± 7.46, 32.75 ± 6.79, 86.25 ± 13.22, and 16.46 ± 4.08, respectively. Correlation analysis showed that psychological distress was negatively correlated with intimate relationship and positive dyadic coping ( r=-0.195, -0.204, both P<0.01), psychological distress was positively correlated with negative dyadic coping ( r=0.229, P<0.01). The mediating effect of positive dyadic coping and negative dyadic coping on psychological distress and intimate relationship was 35.87% and 53.26%, respectively. Conclusions:The psychological distress indirectly affects the intimate relationship of stroke patients through positive dyadic coping and negative dyadic coping. Health care workers can guide patients to actively cope with the disease and encourage couples to strengthen communication, so as to enhance the intimacy of couples and promote their physical and mental health development.

Objective:To explore the effect of perceived stress on fatigue and its mechanism, so as to provide theoretical support for relieving the fatigue of the main caregivers of stroke patients.Methods:From December 2020 to August 2021, 311 main caregivers of stroke patients hospitalized in the Department of Neurology of Class Ⅲ Grade A hospitals in Yinchuan were selected by convenient sampling. The caregivers were investigated with the General Information Questionnaire, Perceived Stress Scale, Resourcefulness Scale, Social Support Rating Scale and Fatigue Scale.Results:In this study, a total of 311 questionnaires were distributed, and 308 valid questionnaires were recovered, with an effective recovery rate of 99.04%. The total scores of perceived stress, fatigue, resourcefulness and social support of the main caregivers of stroke patients were (24.98±6.36) , (5.31±2.86) , (83.98±12.85) and (39.76±6.21) respectively. Perceived stress were negatively correlated with resourcefulness and social support ( r=-0.313, -0.274, P<0.01) , and positively correlated with fatigue ( r=0.261, P<0.01) . Fatigue were negatively correlated with resourcefulness and social support ( r=-0.305, -0.268; P<0.01) . There was a positive correlation between resourcefulness and social support ( r=0.210, P<0.01) . The results of intermediary test showed that the direct effect of perceived stress on fatigue was valid, and the respective intermediary effect of resourcefulness and social support between perceived stress and fatigue, and the chain intermediary effect of resourcefulness and social support were also valid, with the amount of intermediary effect being 26.92%, 15.38% and 3.85% respectively. Conclusions:The chain mediation between perceived stress and fatigue is established between the resourcefulness and social support of the main caregivers of stroke patients. In the future, the mental and physical pressure of stroke patients can be alleviated by improving the resourcefulness of their main caregivers and providing social support.

Genes belonging to the elongases of very long chain fatty acid (ELOVL) family affect many physiological functions in organism. In this paper, Bmelo424 gene, a member of the ELOVL family in silkworm, was cloned and its ORF was 558 bp. Its protein sequence was predicted to have four transmembrane domains, six serine phosphorylation sites, eight threonine phosphorylation sites and four tyrosine phosphorylation sites, and its subcellular localization was in the endoplasmic reticulum. Secondary structure analysis showed that the percentage of alpha-helix and beta-strand was 26.7% and 20% respectively. The results of fluorescence quantitative PCR showed that Bmelo424 gene was expressed in all tissues of silkworm, especially with the highest expression in head. By heterologous expression of Bmelo424 gene in Saccharomyces cerevisiae, the effect of Bmelo424 gene on fatty acid elongation was studied. GC-MS results indicated that the fatty acid content of C16:1n-7 in S. cerevisiae with pYES2-Bmelo424 recombinant plasmid increased significantly, whereas the content of C16:0, C18:0 and C18:1n-9 decreased. The results of temperature stress revealed that Bmelo424 gene could improve the low temperature adaptability of S. cerevisiae, but its high temperature adaptability decreased. This provides a reference for exploring the function of Bmelo424 gene in silkworm.
Acetyltransferases ; Amino Acid Sequence ; Animals ; Bombyx ; Cloning, Molecular ; Fatty Acids ; Saccharomyces cerevisiae

Objective: To understand the HIV and syphilis infection and related treatment status of low-fee female sex workers (FSWs) in 3 provinces of China. Methods: Four cross-sectional survey data of low-fee FSWs from six cities (counties) in Guangxi, Yunnan and Hunan Province between October 2012 and July 2015 were obtained from the national science and technology major special project intervention study for reducing sexually transmitted diseases (STDs) and acquired immunodeficiency syndrome (AIDS) in low-fee FSWs' database, which included social demographic characteristics, sexual service characteristics and related medical care seeking behaviors, etc. A total of 2 050 subjects were included in the database. Results: The age of the subjects was (35.16±9.76) years old, with a minimum age of 15 and a maximum age of 67. Those who use condoms every time in commercial sex accounted for 58.9% (n=1 206). Among the reasons of not using condom, the proportion of client reluctant to use was the highest (81.0% (n=682)). Only 38.1% (n=782) was tested for HIV in the last six months. HIV confirmed positive rate was 6.8% (n=139), previous positive accounts for 76.3% (n=106). Rate of antiviral therapy was 55.4% (n=77). By the end of 2015, the loss rate of antivirus treatment was 18.2% (n=14). Those who self-reported symptoms of sexually transmitted diseases in the last 6 months accounted for 9.4% (n=191). 50.3% (n=96) of reporters chose to go to formal hospitals, 23.0% (n=44) chose to go to private clinics and 20.4% (n=39) chose their own medication. The syphilis infection rate was 13.5% (n=277), among them, 91.3% (n=253) were asymptomatic. Conclusion Among low-fee FSWs, the rates of HIV and syphilis infection are higher, the condom consistent use rate, HIV antibodies and syphilis test rate are lower. In this group, active seeking medical idea is poor, the rate of anti-virus treatment and the rate of seeking medical treatment in formal medical institutions is low.

Objective To explore the clinical features and expression of PLA2R in renal tissue of children with idiopathic membranous nephropathy.Methods Retrospective study was performed in patients with membranous nephropathy diagnosed through renal biopsy and the follow-up time was at least half a year in Shanghai Children's Hospital from January 2010 to February 2017.We compared their clinicopathological and pathological findings of IMN.Indirect immunofluorescence assay was used to detect glomerular PLA2R expression.We analyzed the differences of clinical features between the PLA2R negative and positive groups.T test,rank-sum test and Fisher exact test were used.Results Eleven cases had hematuria and proteinuria,9 cases presented with nephrotic syndrome,and 2 cases showed isolated proteinuria.Of the 22 cases of children with IMN,16 patients had complete remission (complete remission rate was 72.8％),and 22 patients had partial remission.The renal functiou of all cases was normal and in all cases the estimated glomerular filtration rate was ＞ 90 ml/(min· 1.73m2).Of 22 cases with IMN,7 cases were PLA2R-positive in renal tissue and 15 cases were PLA2R-negative.The age of positive group(10 years old) was older than the negative group (6 years old)(Z=-2.483,P＜0.05) and the time of positive group (6 months) for urine protein to return to negative was longer than the negative group (2.5 months) through treatment.These differences were significantly different (Z=-2.072,P＜0.05).Conclusions Hematuria and proteinuria can be found in most children with idiopathic primary membranous nephropathy.Prednisone combined with immunosuppressant was effective.The positive rate of PLA2R in renal tissue of children with IMN was about 32％.The age of PLA2.R positive group was older than the negative group.And the time of urine protein turning to negative in positive group was longer than that in the negative group.

Objective To investigate the levels and significance of Th17 cells and regulatory T cells (Treg) in peripheral blood of children with allergic rhinitis during pollen and non-pollen seasons.Methods Thirteen children with hay fever, 10 children with house dust mite(HDM)-allergic asthma and 10 healthy children were recruited into this study.Percentages of Th17 and Treg cells were detected by flow cytometry.Levels of IL-17, IL-10 and TGF-β in cell culture supernatants were measured by ELISA.Results (1) The percentages of Th17 cells in children with allergic rhinitis [(3.4±2.4)%] were significantly higher than those in HDM-allergic asthmatics [(2.1±1.6)%] and those in healthy children [(0.5±0.3)%] during pollen season (both P<0.05).The levels of Treg cells in allergic rhinitis group [(2.1±1.3)%] and in HDM-allergic asthma group [(3.6±1.9)%] were significantly lower than those in healthy control group [(5.5±2.8)%] (both P<0.05).The levels of Th17 cells [(3.0±1.9)% vs (3.4±2.4)%, P<0.05] and ratios of Th17/Treg cells [(1.4±1.0)% vs (1.7±1.5)%, P<0.05] in children with allergic rhinitis were significantly decreased during non-pollen season as compared with those during pollen season, but the levels of Treg cells were up-regulated [(2.4±1.6)% vs (2.1±1.3)%, P<0.05].(2) Correlation analysis revealed that the ratios of Th17/Treg cells were positively correlated with the concentrations of FeNO (fractional concentration of exhaled NO) (r=0.321, P<0.05) and the counts of circulating eosinophils (r=0.198, P<0.05) in children with allergic rhinitis during pollen season.Conclusion The imbalanced Th17 and Treg cells in children with allergic rhinitis during pollen season might play a vital role in the regulation of allergic airway inflammation.

Objective To evaluate the efficacy and safety of inhaled corticosteroids for preventing chronic lung disease (CLD) in preterm infants. Methods PubMed, EMBASE, CENTRAL, the ISI Web of Knowledge databases, CBM, CNKI, VIP and Wanfang Data were searched for the period up to Oct. 2016. All randomized controlled trials (RCTs) about inhaled corticosteroids for preventing CLD in preterm infants were collected. The RCTs had been screened, data were extracted and assessed. The mata-analysis was performed by RevMan 5.3 software. Result A total of 12 RCTs were included (a total of 2051 preterm neonates). Compared with control group, in 28 day old group, the incidence of CLD was not significantly different between experimental and control groups (RR=0.87, 95%CI:0.74-1.03, P=0.11) and (RR=1.19, 95%CI:0.59-2.43, P=0.63) and no significant difference among subgroups budesonide (α), beclomethasone (β), fluticasone (γ) (RR=0.89, 95%CI:0.69-1.14, P=0.35), (RR=0.86, 95%CI:0.69-1.08, P=0.19) and (RR=0.91, 95%CI:0.60-1.38, P=0.19). In 36 wk postmenstrual age group,the incidence of CLD was decreased in experimental group and in subgroups inhalation (A), Intratracheal administration (B), α, γ (RR=0.70, 95%CI: 0.61-0.80, P<0.00001), (RR=0.74, 95%CI: 0.63-0.87, P=0.0003), (RR=0.57, 95%CI: 0.43-0.76, P=0.0002), (RR=0.67, 95%CI: 0.57-0.78, P<0.00001) and (RR=0.58, 95%CI: 0.36-0.94, P=0.03); but it is not significantly different in subgroup β(RR=0.98, 95%CI: 0.69-1.39, P=0.90); There was no difference in the motality in experimental and subgroups A ,B, α, β , γ (RR=1.07, 95%CI:0.86-1.33, P=0.55), (RR=1.24, 95%CI: 0.97-1.59, P=0.09), (RR=0.67, 95%CI: 0.43-1.03, P=0.07), (RR=1.04, 95%CI: 0.81-1.33, P=0.78), (RR=1.47, 95%CI: 0.79-2.74, P=0.22) and (RR=0.91, 95%CI: 0.47-1.74, P=0.77). No clinically significant adverse effects were observed during the study. Conclusions This updated review indicated that early administration of inhaled steroids to very low birth weight preterm neonates was effective in reducing the incidence of CLD. There was no statistically significant effect of inhaled steroids on motality, and there was no significant correlation between the mode of administration and the type of drug delivery, It is recommended to observe the 36 week gestational age as the outcome index. More and larger randomised placebo-controlled trials including long-term follow up are needed to establish the efficacy and safety of inhalation corticosteroids.

Objective To investigate the changes in percentage and function of CD4+CD25+regu-latory T cells ( Tregs) in peripheral blood of patients with hay fever. Methods A total of 20 patients with hay fever, 20 patients with house dust mite-induced allergic asthma and 20 healthy subjects were enrolled in this study. Peripheral blood samples were collected from all subjects to isolate PBMCs. Percentages of Tregs in PBMCs were measured by flow cytometry. CD4+CD25+ Tregs and CD4+CD25-T cells ( Teffs) were isola-ted by immunomagnetic cell sorting. Effects of CD4+CD25+Tregs on the proliferation of Teffs were evaluated by MTT assay. Expression of Foxp3 and TGF-β1 at mRNA level was analyzed by RT-PCR. Results During the pollen season, the percentage of circulating Tregs in patients with hay fever [(1. 82+0. 82)％] was sig-nificantly lower than that in patients with house dust mite-induced allergic asthma [(2. 96±1. 34)％] and health subjects [(5. 78±2. 29)％] (both P<0. 05). Expression of Foxp3 at mRNA level was significantly reduced in patients with hay fever (0. 46±0. 25) as compared with that of the house dust mite-induced aller-gic asthma (0. 64±0. 31) and healthy control (1. 04±0. 21) groups (both P<0. 05). Expression of TGF-β1 at mRNA level in both hay fever (0. 34±0. 27) and house dust mite-induced allergic asthma (0. 43±0. 31) groups was lower than that of the healthy control group (0. 99±0. 34). Treg-mediated suppression of Teff proliferation was significantly decreased in patients with hay fever [(17. 1±8. 4)％] as compared with that in patients with house dust mite-induced allergic asthma [(21. 4±9. 1)％]) and healthy subjects [(36. 0± 13. 9)％] (P<0. 05). Conclusion Decreased percentage and defective function of Tregs might be one of the major causes for the occurrence and development of hay fever in children during the pollen season.