MYH7 mutation in a pedigree with familial dilated hypertrophic cardiomyopathy:A case report and review of literature

BACKGROUND Hypertrophic cardiomyopathy(HCM)is one of the most prevalent inherited myocardial disorders and is charac-terized by considerable genetic and phenotypic heterogeneity.A subset of patients with HCM progress to a dilated phase of HCM(DPHCM),which is associated with a poor prognosis;however,the underlying pathogenesis remains inadequately understood.CASE SUMMARY In this study,we present a case involving a pedigree with familial DPHCM and conduct a retrospective review of patients with DPHCM with identified gene mutations.Through panel sequencing targeting the coding regions of 312 genes associated with inherited cardiomyopathy,a heterozygous missense mutation(c.746G>A,p.Arg249Glu)in the MYH7 gene was identified in the proband(III-5).Sanger sequencing subsequently confirmed this pathogenic mutation in three additional family members(II-4,III-4,and IV-3).A total of 26 well-documented patients with DPHCM were identified in the literature.Patients with DPHCM are commonly middle-aged and male.The mean age of patients with DPHCM was 53.43±12.79 years.Heart failure,dyspnoea,and atrial fibrillation were the most prevalent symptoms observed,accompanied by an average left ventricular end-diastolic size of 58.62 mm.CONCLUSION Our findings corroborate the pathogenicity of the MYH7(c.746G>A,p.Arg249Glu)mutation for DPHCM and suggest that the Arg249Gln mutation may be responsible for high mortality.

认知障碍对神经梅毒患者临床特征与头颅磁共振结果影响的研究

目的:分析伴认知障碍的神经梅毒患者的临床资料、实验室检查和影像学特点。方法:回顾性分析2018年1月至2023年2月在盐城市第三人民医院神经内科住院首次确诊的有临床症状的神经梅毒患者,根据认知评分分为认知障碍组(cognitive impairment,CI)和非认知障碍组(non-cognitive impairment,n-CI)。分析患者的一般资料,血清和脑脊液梅毒抗体检查、头颅磁共振等资料。结果:共纳入21例神经梅毒患者,其中认知障碍组11例,非认知障碍组10例。两组患者在性别、年龄、受教育年限、高血压病、2型糖尿病、吸烟饮酒史、冶游史、合并精神行为异常方面比较差异无统计学意义(P>0.05)。CI组发病至就诊明显时间长于n-CI组(10.90±7.43m vs 0),差异具有统计学意义(P<0.05)。CI组的全脑萎缩评分≥1分的比例(100%vs 30%)、内侧颞叶评分≥1分的比例(90.09%vs 30%)、Fazekas分级≥2分的比例(90.09%vs 20%)、侧脑室扩大的比例(63.64%vs 10%)均高于n-CI组,差异有统计学意义(P<0.05)。结论:中老年男性,以慢性进行性记忆力减退伴精神行为异常是伴认知障碍神经梅毒的临床特点,全脑皮质萎缩是伴认知障碍神经梅毒的影像学特点。

基于加铺层疲劳试验仪的沥青混合料开裂及自愈性能研究新方法

沥青路面在承受重复荷载和间歇期时会产生疲劳及自愈过程。目前主要利用加铺层疲劳试验仪对裂缝穿透试件时的荷载重复次数进行计数来评价这些现象,但此过程耗时较长,且结果具有较大变异性。该文提出了一种基于粘弹性断裂力学及有限元模型来预测沥青混合料中裂缝实际增长率、开裂及自愈性能的分析方法,该方法使用加铺层疲劳试验仪对室内及现场试件进行测试。另外,利用实际试件的测试结果对该方法进行了验证。结果表明:这种测试方法比之前只利用加铺层疲劳试验仪的方法更快、更便宜,而且结果更具有可复现性,室内试件非破坏性能的变化系数与测试结果具有可比性。

Lyophilized recombinant human brain natriuretic peptide for chronic heart failure:Effects on cardiac function and inflammation

BACKGROUND Chronic heart failure(CHF)is a serious and prevalent condition characterized by impaired cardiac function and inflammation.Standard therapy for CHF has limitations,prompting the exploration of alternative treatments.Recombinant human brain natriuretic peptide(BNP)has emerged as a potential therapy,with evidence suggesting that it can improve cardiac function and reduce inflammation in patients with CHF.However,further research is required to determine the efficacy and safety of lyophilized recombinant human BNP in CHF patients and its impact on microinflammatory status.This study aimed to investigate the effects of lyophilized recombinant human BNP therapy on CHF patients’cardiac function and microinflammatory status.AIM To investigate the effects of freeze-dried recombinant human BNP therapy on cardiac function and microinflammatory status in patients with CHF.METHODS In total,102 CHF patients admitted to our hospital from January 2021 to January 2022 were randomly assigned to control and observation groups(n=51 patients/group).The control patients were treated with standard HF therapy for 3 d,whereas the observational patients were injected with the recombinant human BNP for 3 d.Clinical efficacy,inflammatory factor levels,myocardial damage,cardiac function before and after the treatment,and adverse reactions during treatment were compared between the two groups.RESULTS The overall clinical efficacy was higher in the observation group than in the control group.Compared with baseline,serum hypersensitive C-reactive protein,N-terminal proBNP,and troponin I level,and physical,emotional,social,and economic scores were lower in both groups after treatment,with greater reductions in levels and scores noted in the observation group than in the control group.The overall incidence of adverse reactions in the observation group was not significantly different compared with that in the control group(P>0.05).CONCLUSION Freeze-dried recombinant human BNP therapy can improve heart function and enhance microinflammatory status,thereby improving overall quality of life without any obvious side effects.This therapy is safe and reliable.

Subsidy Policy System for Agricultural Natural Disasters in China

From theories and cases,this paper analyzed current situation of subsidy policy system for agricultural natural disasters in China.Improvement and perfection of subsidy policies for agricultural natural disasters need clear classification and additional special subsidy plan.It is recommended to improve and perfect subsidy policy system for agricultural natural disasters through attaching importance to scientific studies on reduction and prevention of agricultural disasters and gradually supplementing agricultural disaster reduction and prevention system.

Prevalence of depression and anxiety and associated factors among geriatric orthopedic trauma inpatients:A cross-sectional study

BACKGROUND Common mental disorders such as anxiety and depression in geriatric orthopedic trauma patients have received little attention in research.AIM To investigate the prevalence of emotional disorders among geriatric orthopedic trauma patients and identify demographic,social and clinical risk factors.METHODS This cross-sectional study was performed in geriatric patients(aged≥60 years,both sexes)with orthopedic trauma admitted to a level I trauma center between May 2015 and December 2017.Demographic,social,and clinical characteristics were described.Huaxi Emotional-Distress Index(HEI)was used to evaluate the severity of anxiety and depression status.Differences in continuous variables were tested using the t-test,and differences in categorical variables were assessed using the Pearsonχ2 test.Binary logistic regression analyses were used to identify the factors associated with a HEI score>8.RESULTS Among the 966 patients,487 were male and 479 were female,with a mean age of 70.2±7.1 years.The age ranged from 60 to 90 years.Seventy-five patients had an HEI score>8,accounting for about 7.8%of all patients.A higher Injury Severity Score(4.17±3.10 vs 7.96±6.68,P<0.001),higher Visual Analog Score(5.05±1.09 vs 6.89±1.23,P<0.001),number of chronic diseases(P<0.001),injury type(P=0.038),and education level(P=0.001)were significantly associated with HEI score>8.On logistic regression,a higher education level was a protective factor for emotional disorders(P=0.047),whereas Injury Severity Score(P=0.024),Visual Analog Score(P<0.001),two or more chronic diseases(P<0.001)were the related independent risk factors.CONCLUSION Emotional disorders are common in geriatric patients with orthopedic trauma.Clinicians should remain vigilant of emotional disorders in geriatric patients and screen for anxiety and depression in higher risk groups.

Establishment,simulation and verification of firepower safety control model

On a narrow warship platform,the coordinated use of shipborne weapon systems may cause firepower conflicts,which seriously endangers the ship safety.Meanwhile,with directed-energy weapons mounted on ships,firepower conflicts between weapons become a“high probability event”.Aiming at the problem of firepower safety control,based on the research about the collision probability model of air crafts and space targets and according to the cone of fire model of conventional weapons and directed-energy weapons,this paper solved the firepower conflict probabilities between conventional weapons as well as between conventional weapons and directed-energy weapons respectively using the methods of probability theory,and established the firepower safety control model.Then the calculation of firepower conflict probability was carried out using the dimensionality reduction method based on the equivalent conversion of polar coordinates and the power series method based on Laplace transform.The simulation results revealed that the proposed model and calculation methods are effective and reliable,which can provide theoretical basis and technical support for resolution of firepower conflicts between weapons.

Severe digital ischemia coexists with thrombocytopenia in malignancy-associated antiphospholipid syndrome: A case report and review of literature

BACKGROUND Paraneoplastic syndromes are characterized by atypical clinical manifestations.Several reports of hepatocellular carcinoma(HCC)paraneoplastic phenomena have been reported.They usually manifest as one type in an individual,but it is not common for the two clinical manifestations to occur simultaneously.CASE SUMMARY A 52-year-old female patient was admitted to hospital with pale skin and numbness of the second to fifth fingers in the left hand,which rapidly developed into severe digital ischemia.Computed tomography angiography revealed uneven thickness of the left ulnar artery with severe local luminal stenosis.Blood analysis during hospitalization showed persistent mild to medium thrombocytopenia and insensitive to hormonal therapy.Antiphospholipid antibody testing showed high titer of IgG anticardiolipin antibodies(aCLs),IgA aCLs,IgG anti-β2-glycoprotein-I(anti-β2 GPI),and IgA anti-β2 GPI.The exact diagnosis was HCC when the high a-fetoprotein levels,computed tomography findings,and the history of chronic hepatitis B came together.This was a rare case of coexisting manifestations as presenting symptoms of malignancy-associated antiphospholipid syndrome.The patient underwent several operations,antithrombotic treatments and hormonal therapy.However,the patient refused chemotherapy and died 8 wk after diagnosis.CONCLUSION This report highlights the importance of atypical clinical changes that could alert the physicians to vigilance for a concomitant underlying malignancy.

Shenmai injection combined with Western medicine in the treatment of acute pancreatitis: a systematic review and meta-analysis

Background:To evaluate the efficacy and safety of the classic ancient prescription Shenmai injection(the classic ancient presciption)combined with Western medicine in the treatment of acute pancreatitis.Method:PubMed,the Cochrane Library,EMBASE,the Web of Science,China National Knowledge Infrastructure,Wanfang database,VIP Database and Chinese BioMedicine Literature Database were searched from database establishment to January 2021.After 2 researchers independently screened the literature,extracted data and evaluated the bias risk included in the study.A meta-analysis of randomized controlled trials of the classic ancient prescription Shenmai injection combined with Western medicine in the treatment of acute pancreatitis was conducted with the Revman 5.0 software.Result:A total of 19 randomized controlled trials were included,including 1,507 patients.The results of meta-analysis showed that the test group had advantage over the control group in total effective rate(RR=1.23,95%CI(1.17,1.34),P<0.00001),serum amylase level(stand mean difference=−2.92,95%CI(−3.75,−2.09),P<0.00001),C-reactive protein level and IL-6 level with statistically significant.Conclusion:The current evidence shows that the classic ancient prescription Shenmai injection combined with Western medicine can achieve better curative effect in the treatment of acute pancreatitis than using Western medicine alone.It has more advantages in terms of the total effective rate,reducing the level of serum amylase level and inflammatory cytokines.

工程牵引式数据库实验教学方法研究

文章基于“数据库原理及应用“课程的知识分类,将课程按照学生学习的认知规律进行了教学设计。通过合理安排讲授课、实验课等实践学时及次序,对教学过程产生了积极的作用,并取得了好的教学效果。

Fluorescent Cadmium Sulfide Supraparticles: One-Step In situ Self-Assembly Fabrication and Cationic Surfactant Chain Length-Dependent Mitochondria Targeting Capacity

The exploration of novel fluorescent tools for subcellular analysis is of great importance for both chemical biology and biomedicine.Herein,we present an in situ self-assembly strategy for fabricating fluorescent and monodisperse Cd S supraparticles(SPs),which are subsequently employed for mitochondria targeting applications.Using bovine serum albumin and linear chain cationic surfactants as templates and electrostatic modulators,respectively,Cd S SPs can be well fabricated by the proposed one-step self-assembly approach in aqueous medium.In addition to high stability,favorable biocompatibility,as well as decent quantum efficiency,the as-prepared SPs have mitochondria targeting capacity due to their cationic surfactant modification.Interestingly,the localization capacity is positively correlated with the length of the cationic surfactant molecules.As the carbon chains of the cationic surfactant molecules enhance from 10 to 16 atoms,the colocalization efficiencies are correspondingly increased from 81 to 84%.

Evaluation of the Effectiveness of“5E”Comprehensive Injury Prevention Strategy for Fall Prevention Among the Rural Elderly—Six Pilot Villages,Yunnan Province and Chongqing Municipality,China,2018–2023

What is already known about this topic?The mortality rate and disease burden associated with falls among the elderly in China are on the rise.Interventions can play a crucial role in preventing and managing falls.What is added by this report?The application of the“5E”injury prevention strategy led to a decrease in both the occurrence of falls and the likelihood of subsequent falls.Regular physical activity and maintaining a positive outlook were identified as protective measures against falls,while sleep issues and hearing impairment were found to increase the risk of falling.What are the implications for public health practice?The group-based comprehensive intervention strategy is crucial as it offers an innovative intervention model and empirical evidence for decreasing fall rates among elderly individuals living in rural areas.

妇幼保健机构评审对我国二级妇幼保健院服务改善的影响分析

目的分析我国二级妇幼保健院评审现状以及妇幼保健机构评审对其服务改善的影响。方法运用倾向性评分匹配法对评审组与未评审组进行1:1配对, 采用非参数检验和χ2检验对两组妇幼保健院的服务能力相关指标进行比较。结果共匹配842所妇幼保健院, 匹配后的评审组与未评审组比较, 院内个体服务指标中, 年急诊人次、开展妇女与儿童保健服务种类数、床位使用率、每医师日均住院床日的差异有统计学意义(P<0.01);辖区业务管理指标中, 开展辖区健康教育评价的机构比例、制定辖区统一《母子保健手册》的机构比例、开展辖区信息质控和分析利用的机构比例的差异有统计学意义(P<0.01), 且评审组上述指标均高于未评审组。结论妇幼保健机构评审对促进二级妇幼保健院提升院内服务内容、数量、效率以及辖区业务管理质量方面均起到一定作用, 但尚有改进空间。

Safety and tolerability of the ketogenic diet used for the treatment of refractory childhood epilepsy: a systematic review of published prospective studies

Background:To review the available evidence from prospective studies on the safety and tolerability of the ketogenic diet (KD) for the treatment of refractory childhood epilepsy.Methods:A comprehensive bibliographic search was performed with the aim of retrieving prospective studies that monitored adverse effects (AEs) in children after receiving the classic or medium-chain triglyceride KD therapy for refractory epilepsy.Results:A total of 45 studies were retrieved,including 7 randomized controlled trials.More than 40 categories of AEs were reported.The most common AEs included gastrointestinal disturbances (40.6%),hyperlipidemia (12.8%),hyperuricemia (4.4%),lethargy (4.1%),infectious diseases (3.8%) and hypoproteinemia (3.8%).Severe AEs,such as respiratory failure and pancreatitis,occurred in no more than 0.5% of children.Specifically,patients receiving KD therapy should be monitored for osteopenia,urological stones,right ventricular diastolic dysfunction,and growth disturbance.The total retention rates of the diet for 1 year and 2 years were 45.7% and 29.2%,respectively.Nearly half of the patients discontinued the diet because of lack of efficacy.AEs were not the main reason for the KD discontinuation.None of the 24 deaths reported after initiation of the diet was attributed to the KD.Conclusions:KD is a relatively safe dietary therapy.However,because the KD can cause various AEs,it should be implemented under careful medical supervision.Continuous follow-up is needed to address the long-term impact of the diet on the overall health of children.

Moxibustion with different doses for primary dysmenorrhea of cold congelation and blood stasis type:A randomized controlled trial

Objective:To explore the clinical effect differences of moxibustion with different doses on primary dysmenorrhea with cold congelation and blood stasis type.Methods:A total of 60 patients of primary dysmenorrhea were randomized into an intensified dose group and a conventional dose group.All of the patients were treated with moxibustion.In the intensified dose group,the treatment was given three times daily(once every morning,afternoon and at bedtime successively) and during the trial,1 case was dropped out and 29 cases were included in the statistical analysis finally.In the conventional dose group,the treatment was given once daily and 1 case was dropped out during trial and 29 cases were included in the statistical analysis.The score of visual analogue scale(VAS) at the worst painful time point,the score of dysmenorrhea symptoms and recurrence rate were observed and compared before and after treatment in the patients between the two groups.The clinical therapeutic effects were observed in the two groups too.Results:VAS difference value(D-value) and dysmenorrhea symptoms D-valuebefore and after treatment in the intensified dose group were higher than those in the conventional dose group respectively(both P<0.05).The recurrence rate was 14.29% in the intensified dose group,lower than 42.31% in the conventional dose group,with the statistical significance(P<0.05).The total clinical effective rate was 96.55%in the intensified dose group,higher than 89.66% in the conventional dose group,with the statistical significance(P<0.05).Conclusion:Compared with the conventional dose moxibustion,moxibustion with intensified dose achieves satisfactory therapeutic effect on primary dysmenorrhea of cold congelation and blood stasis type.This therapy is low in recurrent rate and convenient in manipulation,thus it deserves to be promoted in clinical application.

A multicenter retrospective cohort study of ketogenic diet therapy in 481 children with infantile spasms

Background:Ketogenic diet(KD)therapy is one of the main treatments for drug-resistant epilepsy.However,the KD therapy has been applied in only a small number of infantile spasm cases.In this large multicenter study,we investigated the efficacy of KD therapy in the treatment of infantile spasms.Methods:In this retrospective,multicenter cohort study,clinical data from main epilepsy centers were analyzed.Patients were classified into different groups according to age,type of drug and whether glucocorticoid was used before initiation of KD.Results:From October 2014 to March 2020,481 patients(308 males and 173 females)with infantile spasms were treated with the KD therapy.The age of the patients ranged from 2 months to 20 years,with a mean age of 1 year and 10 months.The number of anti-seizure medications(ASMs)used before KD initiation ranged 0-6,with a median of 3.In different time from initiation(1,3,6,and 12 months),the rates of seizure freedom after KD were 6.9,11.6;16.0 and 16.8%,respectively(x^(2)=27.1772,P<0.0001).There was a significant difference in the rate of seizure freedom between 3 months and 1 month(x^(2)=6.5498,P=0.0105)groups,and 6 months and 3 months(x^(2)=3.8478,P=0.0498)groups,but not between 12 months and 6 months(x^(2)=0.1212,P=0.7278)groups.The rates of effectiveness were 44.7;62.8,49.1 and 32.0%(x^(2)=93.2674,P<0.0001),respectively.The retention rates were 94.0,82.5,55.7 and 33.1%(x^(2)=483.7551,P<0.0001),correspondingly.The rate of effectiveness and the retention rate of KD were significantly different among the 1,3,6 and 12 months.KD treatment was the first choice in 25 patients(5.2%),55 patients(11.4%)started KD after the failure of the first ASM,158 patients(32.8%)started KD after the failure of the second ASM,157 patients(32.6%)started KD after the failure of the third drug,and 86 patients(17.9%)started KD after the failure of the fourth and more.The KD effect was not related to the number of ASMs used before KD startup(P>0.05).Two hundred and eighteen patients(45.3%)failed to respond to corticotropin or glucocorticoid before initiation.There was no significant difference in the effectiveness rate at different time points between the group of KD therapy after glucocorticoid failure and the group after non-hormone failure (x^(2)=0.8613,P=0.8348).The rate of adverse events of KD in 1,3,6,and 12 months after KD initiation were 22.3,21.7,16.8 and 6.9%,respectively.The adverse events mainly occurred during the first 3 months of KD,and the main adverse events were gastrointestinal disturbance and constipation.Conclusions:The efficacy of the KD treatment for infantile spasms was not affected by age,medication,and glucocorticoid use before initiation.KD is one of the effective treatments for infantile spasms.

Cerebral palsy in children born after assisted reproductive technology: a meta-analysis

Background Several studies have assessed the association between cerebral palsy(CP)and assisted reproductive technology(ART),but the results remain controversial.We conducted a meta-analysis to evaluate the risk of CP after ART compared with natural conceptions and to examine CP risk separately in ART singletons,multiples and preterm births.Methods Web-based databases(PubMed,Embase,the Cochrane Library,and Web of Science)were searched until November 22,2020.Studies which compare CP rates after ART with natural conceptions were included.The Newcastle–Ottawa Scale was used to assess the quality of the included studies.Effect estimates were extracted and combined using the fixed-effects or random-effects model depending on the heterogeneity test.Results There were nine studies included in the meta-analysis.The included studies were of moderate or high quality.A significantly higher risk of CP[odds ratio(OR)=2.17,95%confidence interval(CI)1.72–2.74]was found in ART children(n=89,214)compared with naturally conceived children(n=4,160,745).The significantly higher risk decreased when data were restricted to singletons(OR=1.36,95%CI 1.16–1.59)and disappeared when data were restricted to multiples(OR=1.05,95%CI 0.86–1.29)or preterm births(OR=1.53,95%CI 0.66–3.56).Subgroup and sensitivity analyses indicated that the overall results were robust.Conclusions The risk of CP is increased more than two-fold after ART.This increased risk is largely due to increased rates of multiple birth and preterm delivery in ART children.

Oxcarbazepine oral suspension in pediatric patients with partial seizures and/or generalized tonic-clonic seizures: a multi-center, single arm, observational study in China

Background:To assess efficacy and safety of oxcarbazepine (OXC) oral suspension in pediatric patients aged 2-16 years with partial seizures (PS) and/or generalized tonic-clonic seizures (GTCS) in real-world clinical practice in China.Methods:This 26-week,single arm,multicenter and observational study recruited patients aged 2-16 years with PS or GTCS suitable for OXC oral suspension treatment.Enrolled patients received OXC oral suspension treatment for 26 weeks.Primary endpoints included mean seizure frequency at the end of the treatment and mean seizure frequency reduction at the end of the treatment vs.baseline.Secondary efficacy-related endpoints and safety parameters were also assessed.Results:Nine hundred and eighty-seven pediatric patients were enrolled and 912 (92.4%) completed the study.The mean seizure frequencies at baseline and the end of week 26 were 13.40±64.92 and 1.62±19.47 times/month,respectively.The mean seizure frequency reduction was 10.03±63.67 times/month and the mean seizure frequency reduction percentage was 90.02%±5127.0% (P<0.0001).After 26 weeks of treatment,82.36%,7.24% and 3.86% of the patients became controlled,significantly improved and improved,respectively.Adverse events (AEs) were reported in 74 (7.65%) patients.Rash was the most common AE.The efficacy of OXC was not affected by seizure types,age or gender.Conclusion:This study confirms the efficacy and good safety profile of OXC oral suspension in Chinese pediatric patients aged 2-16 years with PS and/or GTCS.

Spatiotemporal variations of PM_(2.5) and PM_(10) concentrations between31 Chinese cities and their relationships with SO_2,NO_2,CO and O_3

The variations of mass concentrations of PM2.5, PMl0, SO2, NO2, CO, and 03 in 31 Chinese provincial capital cities were analyzed based on data from 286 monitoring sites obtained between March 22, 2013 and March 31,2014. By comparing the pollutant concentrations over this length of time, the characteristics of the monthly variations of mass concentrations of air pollutants were determined. We used the Pearson correlation coefficient to establish the relationship between PM2.5, PM10, and the gas pollutants. The results revealed significant differences in the concentration levels of air pollutants and in the variations between the different cities. The Pearson correlation coefficients between PMs and NO2 and SO2 were either high or moderate （PM2.s with NO2： r = 0.256-0.688, mean r = 0,498：PM10 with NO2： r = 0.169-0.713, mean r=0.493; PM2.5 with SO2： r=0.232-0.693, mean r=0.449; PM10 with SO2： r=0.131-0.669, mean r = 0.403）. The correlation between PMs and CO was diverse （PM2.5： r = 0.156-0.721, mean r = 0.437; PMl0： r= 0.06-0.67, mean r= 0.380）. The correlation between PMs and 03 was either weak or uncorrelated （PM2.s： r= -0,35 to 0.089, mean r= -0.164; PM10： r= -0.279 to 0.078, mean r= -0.127）, except in Haikou （PM2.5： r=0.500; PM10： r=0,509）.