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Repeated pregnancy losses with multiple aneuploidies and major genomic imbalance:A case report

Asian pacific Journal of Reproduction 2024年第3期13卷 143-146页

作者： Shailesh Pande Shiny Babu Harshavardhan Gawde Neha Minde Genetic Research Center ICMR-National Institute for Research in Reproductive and Child HealthJehangir Merwanji StreetParelMumbai-400012India

Rationale:If one of the partners is having balanced autosomal translocation,it is usually observed that the offspring inherit either normal chromosomes,balanced translocation identical to one of the parent or unbalanced chromosomal rearrangements of the same parental chromosome having ***:A unique case presented with history of 8 miscarriages for genetic *** last abortus material evaluation showed monosomy of chromosome X(Turner syndrome)in all the analyzed *** was a history of infertility and also repeated second trimester abortions on the paternal *** the maternal side,there was a history of intellectual ***:History of repeated abnormal pregnancy ***’s karyotype is normal;however,husband shows translocation between chromosome 4 and ***:Peripheral blood sample around 3 mL was collected for *** biopsy was done and DNA was extracted and processed for whole exome ***:Wife’s karyotype is normal and husband has translocation between chromosome 4 and ***,the entire pregnancy outcome including embryo screening has different,complete or partial aneuploidies of chromosomes other than chromosome 4 and *** lesson:Though the translocation in one of the parent is balanced,we have to think beyond traditional ways for evaluating a couple with repeated pregnancy loss as we cannot predict the errors at cell *** of in vitro fertilization and preimplantation genetic diagnosis in couples having balanced translocations should be discussed so that early intervention can prevent the agony of pregnancy loss.

关键词： In vitro fertilization Karyotype Products of conception Preimplantation genetic testing PGT Recurrent pregnancy loss

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CHIT1-positive microglia act as culprits for spinal motor neuron aging

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Science China(Life Sciences) 2024年第4期67卷 847-848页

作者： Zhao Wang Wantong Cai Weihong Song Oujiang Laboratory(Zhejiang Lab for Regenerative Medicine Vision and Brain Health)Institute of AgingKey Laboratory of Alzheimer’s Disease of Zhejiang ProvinceThe Second Affiliated HospitalWenzhou Medical UniversityWenzhou 325035China

Aging is one of the primary factors in spinal cord-associated disorders(Roberts,1990).However,the effects of aging on the spinal cord and the age-specific mechanisms underlying this relationship remain *** neurons(MNs... 详细信息

关键词： aging Roberts positive

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Preparedness,knowledge,and perception of nursing students about climate change and its impact on human health in India

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Regional Sustainability 2024年第1期5卷 107-118页

作者： Ramya Kundayi RAVI Priya BABY Nidhin ELIAS Jisa George THOMAS Kathyayani Bidadi VEERABHADRAIAH Bharat PAREEK College of Nursing Medical and Health Sciences UniversityRas Al Khaimah11172United Arab Emirates College of Nursing National Institute of Mental Health and Neuro sciencesBangalore560011India College of Nursing Amrita Institute of Medical SciencesKochi682041India College of Nursing All India Institute of Medical SciencesBhopal462020India Saraswati Professional and Higher Education College of Nursing Mohali140413India

Higher education plays an important role in all aspects of *** climate change and sustainability into the curriculum is important to prepare future health-care professionals for climate change and sustainability actions to build resilient health *** this study,we evaluated the preparedness,knowledge,and perception regarding climate change and its impact on human health among Indian nursing students.A quantitative descriptive survey was conducted among 644 undergraduate nursing students studying in three institutes in the southern,northern,and western parts of *** used a structured online questionnaire with established validity and reliability to collect *** data were analyzed using Statistical Package for the Social Sciences version 26 *** results showed that more than half of the students reported experiencing excessive increase(362;56.2%)and decrease(374;58.1%)in temperature in recent *** more than three quarters of the students(494;76.7%)accepted the general truth that climate change is mainly caused by human activities,only less than half of the students(309;48.0%)perceived the impact of climate change to be *** quarters of the students(483;75.0%)had a high level of knowledge regarding climate *** students who had a high level of knowledge about climate change exerted a high perceived impact of climate change(χ^(2)=75.47;Pone sixth of the students(16.1%)were highly confident about engaging in climate change-related conversation with *** of the students who participated in the study had basic knowledge about climate change and its impact on human ***,there is an observed gap between knowledge and their preparedness and confidence to engage in climate change ***,we propose to strengthen the nursing curriculum by integra

关键词： Climate change Curriculum Nursing students Human health India

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Muscle strength deficits are associated with low bone mineral density in young pediatric cancer survivors:The iBoneFIT project

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Journal of Sport and health Science 2024年第3期13卷 419-427页

作者： Andres Marmol-Perez Jose J.Gil-Cosano Esther Ubago-Guisado Francisco J.Llorente-Cantarero Juan Francisco Pascual-Gázquez Kirsten K.Ness Vicente Martinez-Vizcaino Jonatan R.Ruiz Luis Gracia-Marco Department of Physical Education and Sports Faculty of Sport SciencesSport and Health University Research Institute(iMUDS)University of GranadaGranada 18011Spain Department of Epidemiology and Cancer Control St.Jude Children's Research HospitalMemphisTN 38105USA Department of Communication and Education Loyola University AndalusiaSeville 41704Spain Biosanitary Research institute ibs.GranadaGranada 18012Spain Maimonides Biomedical Research institute of Cordoba(IMIBIC) Cordoba 14004Spain CIBEROBN Biomedical Research Networking Center for Physiopathology of Obesity and NutritionCarlos III Health InstituteMadrid 28029Spain Department of Specific Didactics Faculty of EducationUniversity of CordobaCordoba 14071Spain Pediatric and adolescent hematology and oncology service Pediatrics and Pediatric Surgery Clinical Management UnitVirgen de las Nieves University HospitalGranada 18014Spain health and Social Research Center Universidad de Castilla-La ManchaCuenca 13001Spain

Background Pediatric cancer survivors are at increased risk of muscle weakness and low areal bone mineral density(aBMD).However,the prevalence of muscle strength deficits is not well documented,and the associations of muscle strength with aBMD are unknown in this ***,this study aimed to investigate the prevalence of upper-and lower-body muscle strength deficits and to examine the associations of upper-and lower-body muscle strength with age-,sex,and race-specific aBMD Z-scores at the total body,total hip,femoral neck,and lumbar *** This cross-sectional study included 116 pediatric cancer survivors(12.1±3.3 years old,mean±SD;42.2%female).Upper-and lower-body muscle strength were assessed by handgrip and standing long jump test,***‑energy X‑ray absorptiometry was used to measure aBMD(g/cm2).Associations between muscle strength and aBMD were evaluated in multivariable linear regression *** regression was used to evaluate the contribution of muscle strength(1-decile lower)to the odds of having low aBMD(Z-score≤1.0).All analyses were adjusted for time from treatment completion,radiotherapy exposure,and body mass *** More than one-half of survivors were within the 2 lowest deciles for upper-(56.9%)and lower-body muscle strength(60.0%)in comparison to age-and sex-specific reference *** strength deficits were associated with lower aBMD Z-scores at all sites(B=0.133–0.258,p=0.001–0.032).Each 1-decile lower in upper-body muscle strength was associated with 30%–95%higher odds of having low aBMD Z-scores at all *** 1-decile lower in lower-body muscle strength was associated with 35%–70%higher odds of having low aBMD Z-scores at total body,total hip,and femoral *** Muscle strength deficits are prevalent in young pediatric cancer survivors,and such deficits are associated with lower aBMD Z-scores at all *** results suggest that interventions designed to improve muscle strength in t

关键词： Bone health Childhood cancer DXA Lean mass Resistance training

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A systematic understanding of microbial reductive dechlorination towards an improved “one health” soil bioremediation: A review and perspective

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Science China Technological Sciences 2024年第10期67卷 3009-3031页

作者： HE Yan LI ShuYao YUAN Jing CHENG Jie DOU JiBo YANG XueLing XU JianMing Zhejiang Provincial Key Laboratory of Agricultural Resources and Environment Institute of Soil and Water Resources and Environmental ScienceCollege of Environmental and Resource SciencesZhejiang University Key Laboratory of Environment Remediation and Ecological health Ministry of Education Microbiome Network and Department of Agricultural Biology Colorado State University Departments of Chemistry and Chemical & Biomolecular Engineering Institute for Functional Intelligent Materials (I-FIM)National University of Singapore

Chlorinated organic pollutants(COPs), both emerging and traditional, are typical persistent pollutants that harm soil health worldwide. Dechlorinators mediated reductive dechlorination is the optimal way to completely remove COPs from anaerobic soil through a redox reaction driven by electron transfer during microbial anaerobic respiration. Generally, the dechlorinated depletion of COPs in situ often interacts with multiple element biogeochemical activities, e.g., methanogenesis, sulfate reduction, iron reduction, and denitrification. Elucidating the relevance of biogeochemical cycles between COPs and multiple elements and the coupled mechanisms involved, thus, helps to develop effective pollution control strategies with the balance between pollution degradation and element cycles in heterogeneous soil, ultimately contributing to “one health” goal. In this review, we summarized the microbial-chemical coupling redox processes and the driving factors, elucidated the interspecies metabolites exchange and electron transfer mechanisms within COP-dechlorinating communities, and further proposed a detailed design, construction, and analysis framework of engineering COP-dechlorinating microbiomes via “top-down” selfassembly and “bottom-up” synthesis to pave the way from laboratory to practical field application. Especially, we delve into the major challenges and perspectives surrounding the design of state-of-the-art synthetic microbial communities. Our goal is to improve the understanding of the microbial-mediated coupling between reductive dechlorination and element biogeochemical cycling, with a particular focus on the implications for health-integrated soil bioremediation under the “one health” concept.

关键词： reductive dechlorination biogeochemical redox processes interspecies interaction synthetic microbiomes, anaerobic soils

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Deleterious variants in RNF111 impair female fertility and induce premature ovarian insufficiency in humans and mice

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Science China(Life Sciences) 2024年第7期67卷 1325-1337页

作者： Chengcheng Song Yingying Qin Yan Li Bingyi Yang Ting Guo Wenqing Ma Dian Xu Keyan Xu Fangfang Fu Li Jin Yanhua Wu Shuyan Tang Xiaojun Chen Feng Zhang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic EngineeringInstitute of Medical Genetics and GenomicsFudan UniversityShanghai 200011China Human Phenome institute Zhangjiang Fudan International Innovation CenterFudan UniversityShanghai 201203China Center for Reproductive Medicine Cheeloo College of MedicineShandong UniversityJinan 250021China State Key Laboratory of Reproductive Medicine and Offspring health Key Laboratory of Reproductive Endocrinology of Ministry of EducationNational Research Center for Assisted Reproductive Technology and Reproductive GeneticsShandong Key Laboratory of Reproductive MedicineShandong Provincial Clinical Research Center for Reproductive HealthShandong UniversityJinan 250021China Department of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China National Demonstration Center for Experimental Biology Education School of Life SciencesFudan UniversityShanghai 200433China Department of Gynecology the Tenth People’s Hospital of Tongji UniversityShanghai 200072China Soong Ching Ling institute of Maternity and Child health International Peace Maternity and Child Health Hospital of China Welfare InstituteShanghai 200030China

Premature ovarian insufficiency(POI)is a heterogeneous female disorder characterized by the loss of ovarian function before the age of *** represents a significant detriment to female ***,the known POI-causative genes currently account for only a fraction of *** elucidate the genetic factors underlying POI,we conducted whole-exome sequencing on a family with three fertile POI patients and identified a deleterious missense variant in *** a subsequent replication study involving 1,030 POI patients,this variant was not only confirmed but also accompanied by the discovery of three additional predicted deleterious RNF111 *** variants collectively account for eight cases,representing 0.78%of the study cohort.A further study involving 500 patients with diminished ovarian reserve also identified two additional RNF111 ***,RNF111 encodes an E3 ubiquitin ligase with a regulatory role in the TGF-β/BMP signaling *** analysis revealed that RNF111/RNF111 is predominantly expressed in the oocytes of mice,monkeys,and *** further investigate the functional implications of RNF111 variants,we generated two mouse models:one with a heterozygous missense mutation(Rnf111+/M)and another with a heterozygous null mutation(Rnf111^(+/-)).Both mouse models exhibited impaired female fertility,characterized by reduced litter sizes and small ovarian ***,RNA-seq and quantitative proteomics analysis unveiled that Rnf111 haploinsufficiency led to dysregulation in female gonad development and negative regulation of the BMP signaling pathway within mouse *** conclusion,our findings strongly suggest that monoallelic deleterious variants in RNF111 can impair female fertility and induce POI in both humans and mice.

关键词： POI RNF111 female fertility ovarian reserve

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Construction of biomimetic proton transport channels in metal-organic framework

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Chinese Chemical Letters 2024年第3期35卷 513-517页

作者： Xiao-Min Li Junchao Jia Danting Yang Jiali Jin Junkuo Gao School of Materials Science and Engineering Institute of Functional Porous MaterialsZhejiang Sci-Tech UniversityHangzhou 310018China Zhejiang Key Laboratory of Pathophysiology School of Public HealthSchool of MedicineNingbo UniversityNingbo 315211China

Construction of proton transport channels in metal-organic frameworks(MOFs)with simple synthesis processes,high proton conductivities and good performance stabilities has been of great interest for proton exchange membrane fuel cell(PEMFC).Herein,we mimic the proton transport behavior of amino acid residues in bacteriorhodopsin,select UiO-66-COOH as the host,glycine and aspartic acid as the functional guest molecules,and then functionalize the MOF framework with amino acids to obtain biomimetic proton transport *** strategy endows UiO-66-COOH-Asp a high proton conductivity of 1.19×10^(-2)S/cm at 70℃and 98%RH,excellent cycle stability of performances and performance durability,which can be comparable to the reported MOFs-based proton ***,the proton conduction mechanism in UiO-66-COOH-Asp is elaborated in detail due to its visual structure,which is also one of the advantages of adopting MOFs as research platform,making it possible to optimize the structure-activity relationship of advanced ***,this strategy has clear objectives and simple synthesis,which has made certain contributions to both theoretical research and future industrial production of proton conductors.

关键词： MOF Amino acids Biomimetic proton transport channels Synergistic effect Proton conduction mechanism

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Preventing brain aging by the artificial enforcement of the unfolded protein response:future directions

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Neural Regeneration Research 2024年第2期19卷 393-394页

作者： Felipe Cabral-Miranda Claudio Hetz Instituto de Ciências Biomédicas Universidade Federal do Rio de JaneiroRio de JaneiroBrazil Center for Geroscience Brain Health and MetabolismSantiagoChile、Biomedical Neuroscience InstituteFaculty of MedicineUniversity of ChileSantiagoChile、Program of Cellular and Molecular BiologyInstitute of Biomedical SciencesFaculty of MedicineUniversity of ChileSantiagoChile、Buck Institute for Research on AgingNovatoCAUSA

As the life expectancy of the world’s population increases,age-related diseases are emerging as one of the greatest problems facing modern *** onset of dementia and neurodegenerative diseases is strictly dependent on aging as a major risk factor and has a profound impact on various aspects of the lives of individuals and their families.

关键词： diseases aging directions

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Discriminatively Constrained Semi-Supervised Multi-View Nonnegative Matrix Factorization with Graph Regularization

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Big Data Mining and Analytics 2024年第1期7卷 55-74页

作者： Guosheng Cui Ye Li Jianzhong Li Jianping Fan Shenzhen institute of Advanced Technology Chinese Academy of SciencesShenzhen 518055China Joint Engineering Research Center for health Big Data Intelligent Analysis Technology Shenzhen 518055China University of Chinese Academy of Sciences Beijing 100049China School of Computer Science and Control Engineering Shenzhen Institute of Advanced TechnologyChinese Academy of SciencesShenzhen 518055China

Nonnegative Matrix Factorization(NMF)is one of the most popular feature learning technologies in the field of machine learning and pattern *** has been widely used and studied in the multi-view clustering tasks because of its *** study proposes a general semi-supervised multi-view nonnegative matrix factorization *** algorithm incorporates discriminative and geometric information on data to learn a better-fused representation,and adopts a feature normalizing strategy to align the different *** specific implementations of this algorithm are developed to validate the effectiveness of the proposed framework:Graph regularization based Discriminatively Constrained Multi-View Nonnegative Matrix Factorization(GDCMVNMF)and Extended Multi-View Constrained Nonnegative Matrix Factorization(ExMVCNMF).The intrinsic connection between these two specific implementations is discussed,and the optimization based on multiply update rules is *** on six datasets show that the effectiveness of GDCMVNMF and ExMVCNMF outperforms several representative unsupervised and semi-supervised multi-view NMF approaches.

关键词： multi-view semi-supervised clustering discriminative information geometric information feature normalizing strategy

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Effectiveness of craniosacral therapy,Bowen therapy,static touch and standard exercise program on sleep quality in fibromyalgia syndrome:A randomized controlled trial

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Journal of Integrative Medicine 2024年第4期22卷 473-483页

作者： Reepa Avichal Ughreja Prem Venkatesan Dharmanand Balebail Gopalakrishna Yogesh Preet Singh Vani Lakshmi R Department of Physiotherapy Manipal College of Health ProfessionsManipal Academy of Higher EducationManipal 576104KarnatakaIndia Department of Rheumatology Manipal HospitalBengaluru 560052KarnatakaIndia Department of Clinical Immunology and Rheumatology All India Institute of Medical SciencesBilaspur 174001Himachal PradeshIndia Department of Data Science Prasanna School of Public HealthManipal Academy of Higher EducationManipal 576104KarnatakaIndia

Background:Sleep disturbance is commonly seen in fibromyalgia syndrome (FMS);however,high quality studies involving manual therapies that target FMS-linked poor sleep quality are lacking for the Indian ***:Craniosacral therapy (CST),Bowen therapy and exercises have been found to influence the autonomic nervous system,which plays a crucial role in sleep *** the paucity of evidence concerning these effects in individuals with FMS,our study tests the effectiveness of CST,Bowen therapy and a standard exercise program against static touch (the manual placebo group) on sleep quality in ***,setting,participants and intervention:A placebo-controlled randomized trial was conducted on132 FMS participants with poor sleep at a hospital in *** participants were randomly allocated to one of the four study groups,including CST,Bowen therapy,standard exercise program,and a manual placebo control group that received static ***,Bowen therapy and static touch treatments were administered in once-weekly 45-minute sessions for 12 weeks;the standard exercise group received weekly supervised exercises for 6 weeks with home exercises until 12 *** 12 weeks,all study participants performed the standard exercises at home for another 12 *** outcome measures:Sleep quality,pressure pain threshold (PPT),quality of life and fibromyalgia impact,physical function,fatigue,pain catastrophizing,kinesiophobia,and positive–negative affect were recorded at baseline,and at weeks 12 and 24 of the ***:At the end of 12 weeks,the sleep quality improved significantly in the CST group (P=0.037) and Bowen therapy group (P=0.023),and the PPT improved significantly in the Bowen therapy group(P=0.002) and the standard exercise group (P<0.001),compared to the static touch *** improvements were maintained at 24 *** between-group differences were observed for other secondary ***:CST and Bowen therapy improv

关键词： Chronic pain Complementary therapies Exercise Fibromyalgia Musculoskeletal manipulations Sleep

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