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Characterization of rtSHSp13 gene encoding a development protein involved in vesicular traffic in spermiogenesis

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Cell Research 2004年第3期 197-207页

作者： Samuel S. KOIDE Center for Biomedical Research population council 1230 York Avenue New York NY 10021 USA

A cDNA, designated as rtSH3p13, was isolated from a rat testis cDNA library. It consists of 1463 bp nuclear acids, which encodes a protein of 312 amino acids and was assigned the GenBank accession number AF227439. The deduced rtSH3p13 protein is a truncated isoform of SH3p13 as a result of mRNA alternative splicing. It is mainly expressed in the rat testis, detected in spermatids at the steps 8-19 of spermiogenesis, and found around the acrosome. During postnatal development, rtSH3p13 appears on day 18 and reaches maximum on day 60. Further experimental results suggested that rtSH3p13 forms a complex with activated epidermal growth factor receptor （EGFR） and interacts with synaptojanin I. Surprisingly, similar to SH3 domain, the V region of rtSH3p13 also inhibits endocytosis in CHO cells. Our results reveal a link between an rtSH3p13-synaptojanin-clathrin complex-mediated formation of pits and the process of spermiogenesis.

关键词： rtSH3p13 spermiogenesis acrosome clathrin endocytosis.

Increased number of symptoms during the acute phase of SARS-CoV-2 infection in athletes is associated with prolonged time to return to full sports performance—AWAREⅧ

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Journal of Sport and Health Science 2024年第3期13卷 280-287,I0001页

作者： Carolette Snyders Marlise Dyer Nicola Sewry Esme Jordaan Martin Schwellnus Sport Exercise Medicine and Lifestyle Institute(SEMLI)Faculty of Health SciencesUniversity of PretoriaPretoria 0083South Africa Section Sports Medicine Faculty of Health SciencesUniversity of PretoriaPretoria 0083South Africa IOC Research Centre of South Africa Pretoria 0083South Africa Biostatistics Unit South African Medical Research CouncilTygerberg 7505South Africa Statistics and population Studies Department University of the Western CapeCape Town 7535South Africa

Purpose The aim of the study was to identify factors associated with prolonged time to return to full performance(RTFP)in athletes with recent severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection.Methods Prospective cohort study with cross sectional analysis.A total of 84 athletes with confirmed SARS-CoV-2 infection assessed at a coronavirus disease 2019 recovery clinic gave a history of age,sex,type/level of sport,co-morbidities,pre-infection training hours,and 26 acute SARS-CoV-2 symptoms from 3 categories(“nose and throat”,“chest and neck”,and“whole body”/systemic).Data on days to RTFP were obtained by structured interviews.Factors associated with RTFP were demographics,sport participation,history of co-morbidities,pre-infection training history,and acute symptoms(type,number).Outcomes were:(a)days to RTFP(median,interquartile range(IQR))in asymptomatic(n=7)and symptomatic athletes(n=77),and(b)hazard ratios(HRs;95%confidence interval)for symptomatic athletes with vs.without a factor(univariate,multiple models).HR0.05).Factors associated with prolonged RTFP(univariate models)were:females(HR=0.57;p=0.014),endurance athletes(HR=0.41;p<0.0001),co-morbidity number(HR=0.75;p=0.001),and respiratory disease history(HR=0.54;p=0.026).In symptomatic athletes,prolonged RTFP(multiple models)was significantly associated with increased“chest and neck”(HR=0.85;p=0.017)and“nose and throat”(HR=0.84;p=0.013)symptoms,but the association was more profound between prolonged RFTP and increased total number of“all symptoms”(HR=0.91;p=0.001)and“whole body”/systemic(HR=0.82;p=0.007)symptoms.Conclusion A larger number of total symptoms and specifically“whole body”/systemic symptoms during the acute phase of SARS-CoV-2 infection in athletes is associated with prolonged RTFP.

关键词： Athletes COVID-19 Performance Recovery Return to play

Association of physical activity with risk of chronic kidney disease in China:A population-based cohort study

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Journal of Sport and Health Science 2024年第2期13卷 204-211页

作者： Kexiang Shi Yunqing Zhu Jun Lv Dianjianyi Sun Pei Pei Huaidong Du Yiping Chen Ling Yang Bing Han Rebecca Stevens Junshi Chen Zhengming Chen Liming Li Canqing Yu China Kadoorie Biobank collaborative group Department of Epidemiology&Biostatistics School of Public HealthPeking University Health Science CenterBeijing 100191China Peking University Center for Public Health and Epidemic Preparedness&Response Beijing 100191China Key Laboratory of Epidemiology of Major Diseases(Peking University) Ministry of EducationBeijing 100191China Clinical Trial Service Unit&Epidemiological Studies Unit(CTSU) Nuffield Department of Population HealthUniversity of OxfordOxford OX37LFUK Medical Research council population Health Research Unit at the University of Oxford Oxford OX37LFUK NCDs Prevention and Control Department Henan Center for Disease Control and PreventionZhengzhou 450016China China National Center for Food Safety Risk Assessment Beijing 100022China 不详

Background:Information on the association between physical activity(PA)and the risk of chronic kidney disease(CKD)is limited.We aimed to explore the associations of total,domain-specific,and intensity-specific PA with CKD and its subtypes in China.Methods:The study included 475,376 adults from the China Kadoorie Biobank aged 30-79 years during 2004-2008 at baseline.An interviewer-administered questionnaire was used to collect the information about PA,which was quantified as metabolic equivalent of task hours per day(MET-h/day)and categorized into 4 groups based on quartiles.Cox regression was used to analyze the association between PA and CKD risk.Results:During a median follow-up of 12.1 years,5415 incident CKD cases were documented,including 1159 incident diabetic kidney disease(DKD)cases and 362 incident hypertensive nephropathy(HTN)cases.Total PA was inversely associated with CKD risk,with an adjusted hazard ratio(HR,95%confidence interval(95%CI))of 0.83(0.75-0.92)for incident CKD in the highest quartile of total PA as compared with participants in the lowest quartile.Similar results were observed for risk of DKD and HTN,and the corresponding HRs(95%CIs)were 0.75(0.58-0.97)for DKD risk and 0.56(0.37-0.85)for HTN risk.Increased nonoccupational PA,low-intensity PA,and moderate-to-vigorous-intensity PA were significantly associated with a decreased risk of CKD,with HRs(95%CIs)of 0.80(0.73-0.88),0.85(0.77-0.94),and 0.85(0.76-0.95)in the highest quartile,respectively.Conclusion:PA,including nonoccupational PA,low-intensity PA,and moderate-to-vigorous-intensity PA,was inversely associated with the risk of CKD,including DKD,HTN,and other CKD,and such associations were dose dependent.

关键词： Chronic kidney disease Domain Intensity Physical activity

Genetic pathways in cerebral palsy:a review of the implications for precision diagnosis and understanding disease mechanisms

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Neural Regeneration Research 2024年第7期19卷 1499-1508页

作者： Yiran Xu Yifei Li Seidu A.Richard Yanyan Sun Changlian Zhu Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center Institute of Neuroscience and The Third Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan ProvinceChina National Health council(NHC)Key Laboratory of Birth Defects Prevention Henan Key Laboratory of Population Defects PreventionZhengzhouHenan ProvinceChina Department of Human Anatomy School of Basic Medicine and Institute of NeuroscienceZhengzhou UniversityZhengzhouHenan ProvinceChina Center for Brain Repair and Rehabilitation Institute of Neuroscience and PhysiologyUniversity of GothenburgGothenburgSweden

Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and posture.Patients with cerebral palsy are often only capable of limited activity,resulting from non-progressive disturbances in the fetal or neonatal brain.These disturbances severely impact the child’s daily life and impose a substantial economic burden on the family.Although cerebral palsy encompasses various brain injuries leading to similar clinical outcomes,the unde rstanding of its etiological pathways remains incomplete owing to its complexity and heterogeneity.This review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy development.It is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development,which can be further influenced by environmental fa ctors.Des pite continuous research endeavors,the underlying fa ctors contributing to cerebral palsy remain are still elusive.However,significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy development.Moreove r,these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping,including thrombosis,angiogenesis,mitochondrial and oxidative phosphorylation function,neuronal migration,and cellular autophagy.Furthermore,exploring targeted genotypes holds potential for precision treatment.In conclusion,advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral palsy.These breakthroughs have the potential to pave the way for new treatments and therapies,consequently shaping the future of cerebral palsy research and its clinical management.The investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management strategies.By elucidating the underlying cellular mechanisms,we can develop to rgeted interventions to optimiz

关键词： cerebral palsy environmental factors etiology genetic factors genetic mutation movement disorder spastic diplegia

Are school uniforms associated with gender inequalities in physical activity? A pooled analysis of population-level data from 135 countries/regions

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Journal of Sport and Health Science 2024年第4期13卷 590-598页

作者： Mairead Ryan Luiza I.C.Ricardo Nicole Nathan Riikka Hofmann Esther van Sluijs Medical Research council Epidemiology Unit University of CambridgeCambridge CB20QQUK Faculty of Education University of CambridgeCambridge CB28PQUK Hunter New England population Health WallsendNSW 2287Australia School of Medicine and Public Health College of HealthMedicine and WellbeingUniversity of NewcastleCallaghanNSW 2308Australia Hunter Medical Research Institute New Lambton HeightsNSW 2305Australia National Centre of Implementation Science University of NewcastleCallaghanNSW 2308Australia

Purpose:It is aimed to assess whether school uniforms are associated with population-level gender inequalities in physical activity,and whether associations differ by school level,country/region income,and assessment method.Methods:An ecological study design was employed.We collected data about global uniform practices using an online survey.We searched for country/region-level estimates of school-aged youth meeting physical activity guidelines from international surveillance studies.Study selection was conducted in duplicate using a systematic process,and a random sample of all data was checked to ensure extraction and pooling processes were accurate.We calculated absolute and relative gender inequalities in physical activity for each country.Linear regression examined associations between country/region-level uniform practices(binary yes/no exposure variable)and country/region-level gender inequalities in physical activity guideline compliance(absolute and relative inequalities).We investigated moderation by school level,stratified analyses by income group,and repeated primary analyses using device-measured data.Results:Pooling data from 135 countries/regions(n=1,089,852),we found no association between population-level uniform practices and gender inequalities in physical activity across all ages(absolute:b=-0.2;95%confidence interval(95%CI):-1.7 to 1.3,p=0.74;relative:b=0.1;95%CI:-0.1 to 0.2,p=0.51).Subgroup analysis suggested a positive association in primary school settings(absolute:b=4.3;95%CI:-0.0 to 8.6,p=0.05).Among high-income countries,absolute inequalities were significantly greater in countries/regions with uniform practices(N=37)compared to those without(N=48)(9.1(SD=3.6)vs.7.8 percentage points(SD=4.3)).Repeating analyses using device-measured data(n=32,130;N=24)did not alter our primary finding.From initial descriptive statistics,we found that in countries/regions where a majority of schools(>50%)reportedly use uniforms,there was lower compliance with physical activity guidelines among all gender

关键词： School policy Clothing Child Adolescent Accelerometer

Influence of edaphic factors on distribution and condition of Himalayan silver birch(Betula utilis D.Don)communities in the northwestern Indian Himalayas

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Journal of Mountain Science 2024年第2期21卷 590-606页

作者： Khashti DASILA Renu RAWAL Tanay BARMAN Sher Singh SAMANT Anita PANDEY Veena PANDE G.B.Pant National Institute of Himalayan Environment Almora 263643India Centre of Excellence on Sustainable Land Management Indian Council of Forestry Research and EducationDehradun 248006India Uttarakhand State council for Science&Technology Dehradun 248015India Department of Biotechnology Graphic Era(Deemed to be University)Dehradun 248002India Department of Biotechnology Kumaun UniversityNainital 263136India

The basic concept of phytosociology is crucial for the assessment of species composition and dynamic ecological succession of forests supporting ecological services,functions,disturbance,and resilience that lead to the development of integrated areas such as ecological niche modeling and contribute to identifying the valuable bio-indicators which can be used in framing conservation and management planning.B.utilis is one of the most dominant tree species of treeline ecotone in the Himalayan Region.The species is also considered as indicator species for monitoring the past and recent climate change impact.The current study was carried out in the natural populations of B.utilis from the sub-alpine zone of North-western Indian Himalaya.The birch dominated forest harbors a total of 305 plant species comprising Angiosperms(51 families,160 genera and 277 species),Gymnosperms(03 families,05 genera and 07 species)and Pteridophytes(07 families,11 genera and 21 species)with Asteraceae,Ranunculaceae and Rosaceae as dominant family.Birch forests are found dominant in shady moist habitat and North West aspect.Geographical characteristics,anthropogenic and developmental activities affect the population structure of B.utilis and associated species.However,the species has fair regeneration status in the study area.The acidic nature of soil pH and spatial variation in edaphic characteristics may be due to geographical differences,rooting patterns and litter accumulation of below and above-ground vegetation.Biomass estimation of a representative population of B.utilis from each site showed that TAGBD,TCD and TBD were found maximum in ST3(Hamta Pass II site).The CCA analysis determined that environmental variables such as altitude,organic matter,available phosphorous,organic carbon,available nitrogen,and electrical conductivity played a significant role in determining tree species composition and distribution in B.utilis dominated forests.

关键词： Species composition Indicator species Biomass North-western Indian Himalaya Regeneration Environmental variables

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Desert Plants

英语世界 2024年第3期 127-128页

Lack of food The population of the Earth is still going up and scientists are worried that there will not be enough food for everybody in the middle of this century. One unusual plant from Madagascar,the Kalanchoe fedtschenkoi,may help.It absorbs carbon dioxide at night and it needs ten times less water than food plants like corn.This means it can grow in the desert.

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Psychiatric comorbidities in epilepsy:population co-occurrence,genetic correlations and causal effects

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General Psychiatry 2024年第1期37卷 103-111页

作者： Viktor H Ahlqvist Christina Dardani Paul Madley-Dowd Harriet Forbes Jessica Rast Caichen Zhong Renee M Gardner Christina Dalman Kristen Lyal cRAIG Newschaffer Torbjorn Tomson Michael Lundberg Daniel Berglind Neil M Davies Brian K Lee Cecilia Magnusson Dheeraj Rai Department of Global Public Health Karolinska InstitutetStockholmSweden Medical Research council Integrative Epidemiology Unit Bristol Medical SchoolUniversity of BristolBristolUK Centre for Academic Mental Health Population Health SciencesBristol Medical SchoolUniversity of BristolBristolUK Faculty of Epidemiology and population Health London School of Hygiene and Tropical MedicineLondonUK A.J.Drexel Autism Institute Drexel UniversityPhiladelphiaPAUSA Department of Epidemiology and Biostatistics School of Public HealthDrexel UniversityPhiladelphiaPAUSA College of Health and Human Development Pennsylvania State UniversityState CollegePAUSA Department of Clinical Neuroscience Karolinska InstitutetStockholmSweden Centre for Epidemiology and Community Medicine Region StockholmStockholmSweden K.G Jebsen Center for Genetic Epidemiology Department of Public Health and NursingNorwegian University of Science and TechnologyTrondheimNorway Division of Psychiatry University Collge LondonLondonUK Department of Statistical Sciences University Cllge LondonLondonK NIHR Biomedical Research Centre University of BristoBristolUK Avon and Wiltshire Partnership NHS Mental Health TrustBristolUK

Background Psychiatric comorbidities are common in patients with epilepsy.Reasons for the co-occurrence of psychiatric conditions and epilepsy remain poorly understood.Aim We aimed to triangulate the relationship between epilepsy and psychiatric conditions to determine the extent and possible origins of these conditions.Methods Using nationwide Swedish health registries,we quantified the lifetime prevalence of psychiatric disorders in patients with epilepsy.We then used summarydata from genome-wide association studies to investigate whether the identified observational associations could be attributed to a shared underlying genetic aetiology using cross-trait linkage disequilibrium score regression.Finally,we assessed the potential bidirectional relationships using two-sample Mendelian randomisation.Results In a cohort of 7628495 individuals,we found that almost half of the 94435 individuals diagnosed with epilepsy were also diagnosed with a psychiatric condition in their lifetime(adjusted lifetime prevalence,44.09%;95%confidence interval(Cl)43.78%to 44.39%).We found evidence for a genetic correlation between epilepsy and some neurodevelopmental and psychiatric conditions.For example,we observed a genetic correlation between epilepsy and attention-deficit/hyperactivity disorder(r,=0.18,95%Cl 0.09 to 0.27,p<0.001)—a correlation that was more pronounced in focal epilepsy(r=0.23,95%CI 0.09 to 0.36,p<0.001).Findings from Mendelian randomisation using common genetic variants did not support bidirectional effects between epilepsy and neurodevelopmental or psychiatric conditions.Conclusions Psychiatric comorbidities are common in patients with epilepsy.Genetic correlations may partially explain some comorbidities;however,there is little evidence of a bidirectional relationship between the genetic liability of epilepsy and psychiatric conditions.These findings highlight the need to understand the role of environmental factors or rare genetic variations in the origins of psychiatric comorbidities in epilepsy.

关键词： epilepsy Psychiat lifetime

Influence of preterm birth on the association between gestational diabetes mellitus and childhood developmental vulnerability:a causal mediation analysis

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World Journal of Pediatrics 2024年第1期20卷 54-63页

作者： Bereket Duko Amanuel Tesfay Gebremedhin Gizachew Assefa Tessema Gavin Pereira Australian Centre for Precision Health UniSA Clinical and Health SciencesUniversity of South AustraliaNorth TerraceAdelaideSA5000Australia Curtin School of population Health Faculty of Health SciencesCurtin UniversityKent StreetBentleyWA 6102Australia enAble Institute Curtin UniversityKent StreetBentleyWA6102Australia Centre for Fertility and Health(CeFH) Norwegian Institute of Public HealthOsloNorway

Background Epidemiological studies examining the direct and indirect effects of gestational diabetes mellitus(GDM)on offspring early childhood developmental vulnerability are lacking.Therefore,the aims of this study were to estimate the direct and indirect effects of GDM(through preterm birth)on early childhood developmental vulnerability.Methods We conducted a retrospective population-based cohort study on the association between gestational diabetes mellitus and early childhood developmental vulnerability in children born in Western Australia(WA)using maternal,infant and birth records from the Midwives Notification,Hospitalizations,Developmental Anomalies,and the Australian Early Development Census(AEDC)databases.We used two aggregated outcome measures:developmentally vulnerable on at least one AEDC domain(DV1)and developmentally vulnerable on at least two AEDC domains(DV2).Causal mediation analysis was applied to estimate the natural direct(NDE),indirect(NIE),and total(TE)effects as relative risks(RR).Results In the whole cohort(n=64,356),approximately 22%were classified as DV1 and 11%as DV2 on AEDC domains.Estimates of the natural direct effect suggested that children exposed to GDM were more likely to be classified as DV1(RR=1.20,95%CI:1.10-1.31)and DV2(RR=1.34,95%CI:1.19-1.50)after adjusting for potential confounders.About 6%and 4%of the effect of GDM on early childhood developmental vulnerability was mediated by preterm birth for DV1 and DV2,respectively.Conclusion Children exposed to gestational diabetes mellitus were more likely to be developmentally vulnerable in one or more AEDC domains.The biological mechanism for these associations is not well explained by mediation through preterm birth.

关键词： Child development Causal mediation analysis Gestational diabetes mellitus Offspring