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Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy(DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene

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Journal of Zhejiang University-science B(Biomedicine & Biotechnology) 2019年第9期20卷 753-771页

作者： Yan-mei YANG Kai YAN Bei LIU Min CHEN Li-ya WANG Ying-zhi HUANG Ye-qing QIAN Yi-xi sUN Hong-ge LI Min-yue DONG department of reproductive Genetics Women's HospitalSchool of MedicineZhejiang UniversityHangzhou 310006China Key Laboratory of reproductive Genetics(Zhejiang University) Ministry of EducationHangzhou 310006China Key Laboratory of women's reproductive health of Zhejiang Province Hangzhou 310006China

Duchenne muscular dystrophy(DMD)and Becker muscular dystrophy(BMD)are caused by mutations in the DMD *** aim of this study is to identify pathogenic DMD variants in probands and reduce the risk of recurrence of the disease in affected *** in 100 unrelated DMD/BMD patients were detected by multiplex ligation-dependent probe amplification(MLPA)and next-generation sequencing(NGs).Pathogenic variants in DMD were successfully identified in all cases,and 11 of them were *** most common mutations were intragenic deletions(69%),with two hotspots located in the 5'end(exons 2–19)and the central of the DMD gene(exons 45–55),while point mutations were observed in 22%***,c.1149+1G>A and c.1150?2A>G were confirmed by hybrid minigene splicing assay(HMsA).This two splice site mutations would lead to two aberrant DMD isoforms which give rise to severely truncated ***,the clinical use of MLPA,NGs,and HMsA is an effective strategy to identify ***,eight embryos were terminated pregnancies according to prenatal diagnosis and a healthy boy was successfully delivered by preimplantation genetic diagnosis(PGD).Early and accurate genetic diagnosis is essential for prenatal diagnosis/PGD to reduce the risk of recurrence of DMD in affected families.

关键词： Dystrophin gene Variation Genetic diagnosis splice site mutation Hybrid minigene splicing assay

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Review:Whole genome amplification in preimplantation genetic diagnosis

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Journal of Zhejiang University-science B(Biomedicine & Biotechnology) 2011年第1期12卷 1-11页

作者： Ying-ming ZHENG Ning WANG Lei LI Fan JIN department of reproductive Endocrinology Women's Hospital School of Medicine Zhejiang University Hangzhou 310006 China

Preimplantation genetic diagnosis (PGD) refers to a procedure for genetically analyzing embryos prior to implantation,improving the chance of conception for patients at high risk of transmitting specific inherited *** method has been widely used for a large number of genetic disorders since the first successful application in the early *** chain reaction (PCR) and fluorescent in situ hybridization (FIsH) are the two main methods in PGD,but there are some inevitable shortcomings limiting the scope of genetic ***,different whole genome amplification (WGA) techniques have been developed to overcome these *** DNA can be amplified and multiple tasks which need abundant DNA can be ***,WGA products can be analyzed as a template for multi-loci and multi-gene during the subsequent DNA *** this review,we will focus on the currently available WGA techniques and their applications,as well as the new technical trends from WGA products.

关键词： Whole genome amplification Multiple displacement amplification Primer extension preamplification Degenerate oligonucleotide primed-polymerase chain reaction Preimplantation genetic diagnosis

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Nanoengineered Gallium Ion Incorporated Formulation for safe and Efficient Reversal of PARP Inhibition and Platinum Resistance in Ovarian Cancer

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Research 2023年第3期2023卷 793-808页

作者： Yangyang Li Yixuan Cen Mengyan Tu Zhenzhen Xiang sangsang Tang Weiguo Lu Hongbo Zhang Junfen Xu Zhejiang Provincial Key Laboratory of Precision Diagnosis and Therapy for Major Gynecological Diseases Women’s HospitalZhejiang University School of MedicineHangzhouZhejiangChina department of Gynecologic Oncology Women’s HospitalZhejiang University School of MedicineHangzhou 310006ZhejiangChina women’s reproductive health Laboratory of Zhejiang Province Women’s HospitalZhejiang University School of MedicineHangzhou 310006ZhejiangChina Cancer Center Zhejiang UniversityHangzhou 310058ZhejiangChina Pharmaceutical sciences Laboratory Åbo Akademi UniversityTurku FI-20520Finland Turku Bioscience Centre University of Turku andÅbo Akademi UniversityTurku FI-20520Finland

Platinum-based chemotherapy remains the main systemic treatment of ovarian cancer(OC).However,the inevitable development of platinum and poly(adenosine diphosphate-ribose)polymerase inhibitor(PARPi)resistance is associated with poor outcomes,which becomes a major obstacle in the management of this *** present study developed“all-in-one”nanoparticles that contained the PARPi olaparib and gallium(Ga)(III)(olaparib-Ga)to effectively reverse PARPi resistance in platinum-resistant A2780-cis and sKOV3-cis OC cells and in sKOV3-cis tumor ***,the olaparib-Ga suppressed sKOV3-cis tumor growth with negligible ***,the suppression effect was more evident when combining olaparib-Ga with cisplatin or carboplatin,as evaluated in A2780-cis and sKOV3-cis ***,the combined treatment induced DNA damage,which elicited the activation of ataxia telangiectasia mutated(ATM)/AMT-and Rad3-related(ATR)checkpoint kinase 1(Chk1)/Chk2 signal transduction *** led to the arrest of cell cycle progression at s and G2/M phases,which eventually resulted in apoptosis and cell death due to unrepairable DNA *** addition,effective therapeutic responses to olaparib-Ga and cisplatin combination or olaparib-Ga and carboplatin combination were observed in sKOV3-cis tumor-bearing animal ***,the present findings demonstrate that olaparib-Ga has therapeutic implications in platinum-resistant OC cells,and the combination of olaparib-Ga with cisplatin or carboplatin may be promising for treating patients with OC who exhibit resistance to both PARPi and platinum.

关键词： platinum PARP eventually

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Intertwined depressive and cognitive trajectories and the risk of dementia and death in older adults:a competing risk analysis

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General Psychiatry 2024年第2期37卷 207-215页

作者： Ziyang Ren Lirong Nie Yushan Du Jufen Liu Institute of reproductive and Child health/National health Commission Key Laboratory of reproductive health Peking UniversityBeijingChina department of Epidemiology and Biostatistics School of Public HealthPeking UniversityBeijingChina

Background Depressive symptoms and cognitive impairment often interact,rendering their associations *** date,their joint trajectories and associations with dementia and death remain *** To explore the interactions between depressive symptoms and cognitive function,their developmental trajectories and the associations with all-cause dementia,Alzheimer’s disease(AD)and all-cause death in older *** Data were from the health and Retirement *** symptoms and cognitive function were measured using the 8-item Centre for Epidemiologic studies Depression scale and the Telephone Interview of Cognitive status,***-cause dementia and AD were defined by self-reported or proxy-reported physician ***-cause death was determined by *** restricted cubic spline,group-based trajectory modelling and subdistribution hazard regression were *** significant interactions between depressive symptoms and cognitive function in 2010 in their association with new-onset all-cause dementia and AD from 2010 to 2020 were found,especially in women(p for interactionsis showed that emerging or high(vs no)depressive trajectories and poor or rapidly decreased cognitive trajectories(vs very good)from 1996 to 2010 were at significantly higher risk of subsequent all-cause dementia,AD and all-cause death.15 joint trajectories of depressive symptoms and cognitive function from 1996 to 2010 were determined,where rapidly decreased cognitive function was more common in those with no depressive *** with older adults with the trajectory of no depressive symptoms and very good cognitive function,those with the trajectory of no depressive symptoms but rapidly decreased cognitive function were much more likely to develop new-onset all-cause dementia and death,with subdistribution hazard ratios(95%confidence intervals)of 4.47(2.99 to 6.67)and 1.84(1.43 to 2.36),especially in wome

关键词： death analysis rendering

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sARs-CoV-2:Possible role in children with acute hepatitis of unknown origin

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hLife 2023年第2期1卷 83-92页

作者： Renqiang Yu Ailing Chen Yongjun Zhang department of Neonatology Wuxi Maternity and Child Health Care HospitalAffiliated Women’s Hospital of Jiangnan UniversityJiangsuChina Research Institute for reproductive health and Genetic Diseases Wuxi Maternity and Child Health Care HospitalAffiliated Women’s Hospital of Jiangnan UniversityJiangsuChina department of Pediatrics Xinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina

The UK raised an alert with the World health Organization(WHO)in April 2022 concerning a significant surge in the num-ber of children diagnosed with acute hepatitis of unknown origin(AHUO).Despite an ongoing investigation attributing its etiology to adenovirus infection,the absence of adenovirus inclusions in liver biopsies and the remarkably low viral load raised ***,reports of severe acute respiratory syndrome coronavirus 2(sARs-CoV-2)infections in children coincided with the surge in acute hepatitis cases,prompting the need for a thorough examination of the poten-tial connection between current or past sARs-CoV-2 infections and pediatric hepatitis *** data suggests that acute hepatitis is a notable manifestation of the multiple-system inflammatory syndrome in children following the global sARs-CoV-2 ***,the precise role of the sARs-CoV-2 virus in liver injury etiology remains *** shed light on the potential association between sARs-CoV-2 and AHUO in children,we conduct-ed a systematic review of epidemiological links,potential pathogenesis,and recent research findings,aiming to raise awareness and vigilance among *** and definitive evidence will be essential in the future to confirm the direct impact of sARs-CoV-2 infection on children with AHUO.

关键词： acute hepatitis of unknown origin children severe acute respiratory syndrome coronavirus 2 multiple-system inflammatory syndrome adenovirus

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Generation of GGTA1 biallelic knockout pigs via zinc-finger nucleases and somatic cell nuclear transfer

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science China(Life sciences) 2014年第2期57卷 263-268页

作者： BAO Lei CHEN HaiDe JONG UiMyong RIM CholHo LI WenLing LIN XiJuan ZHANG Dan LUO Qiong CUI Chun HUANG HeFeng ZHANG Yan XIAO Lei FU ZhiXin College of Animal sciences School of Medicine Zhejiang University Institute of Biochemistry and Cell Biology Shanghai Institutes for Biological SciencesChinese Academy of Sciences department of Animal Cloning Cloning Research Center Biotechnology Branch Academy of Sciences Pyongyang the Democratic People's Republic of Korea department of reproductive Endocrinology Women's Hospital School of Medicine Zhejiang University Key Laboratory of reproductive Genetics Zhejiang University department of reproductive Genetics Women's Hospital School of Medicine Zhejiang University Key Laboratory of reproductive Genetics Zhejiang UniversityMinistry of Education department of Obstetrics Women's Hospital School of Medicine Zhejiang University Institut Pasteur of shanghai Shanghai Institutes for Biological SciencesChinese Academy of Sciences College of Animal science and Technology Hebei Normal University of Science and Technology

Genetically modified pigs are valuable models of human disease and donors of xenotransplanted *** gene targeting in pig somatic cells is extremely ***-finger nuclease(ZFN)technology has been shown to be a powerful tool for efficiently inducing mutations in the ***,ZFN-mediated targeting in pigs has rarely been ***,we used ZFNs to knock out the porcineα-1,3-galactosyl-transferase(GGTA1)gene,which generates Gal epitopes that trigger hyperacute immune rejection in pig-to-human *** pig fibroblasts were transfected with ZFNs targeting the coding region of *** mono-allelic and four biallelic knockout cell clones were obtained after drug selection with efficiencies of 23.4%and 5.2%,*** biallelic cells were used to produce cloned pigs via somatic cell nuclear transfer(sCNT).Three GGTA1 null piglets were born,and one knockout primary fibroblast cell line was established from a cloned *** epitopes on GGTA1 null pig cells were completely eliminated from the cell ***,GGTA1 knockout cells were protected from complement-mediated immune attacks when incubated with human *** study demonstrated that ZFN is an efficient tool in creating gene-modified ***1 null pigs and GGTA1 null fetal fibroblasts would benefit research and pig-to-human transplantation.

关键词： pig xenotransplantation ZFNs GGTA1 biallelic knockout sCNT

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Effects of aromatherapy with Rosa damascena on nulliparous women's pain and anxiety of labor during first stage of labor

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Journal of Integrative Medicine 2018年第2期16卷 120-125页

作者： sepideh Hamdamian soheila Nazarpour Masoumeh simbar sepideh Hajian Faraz Mojab Atefeh Talebi department of Midwifery and reproductive health School of Nursing and MidwiferyShahid Beheshti University of Medical Sciences department of Midwifery Chalous Branch Islamic Azad University Midwifery and reproductive health Research Center Department of Midwifery and Reproductive HealthSchool of Nursing and MidwiferyShahid Beheshti University of Medical Sciences department of Pharmacognosy School of Pharmacy and Research Center of Pharmaceutical ScienceShahid Beheshti University of Medical Sciences department of Biostatistics School of Paramedicine Shahid Beheshti University of Medical Sciences

Background： Reducing labor pain and anxiety is one of the most important goals of maternity care. Objective： This study aimed to assess the effects of aromatherapy with Rosa damascena on pain and anxiety in the first stage of labor among nulliparous women. Design, setting, participants and interventions： This was a randomized clinical trial of 110 nulliparous women. The eligible participants were randomly assigned to two groups of aromatherapy and control in an Iranian maternity hospital. The participants received 0.08 mL of Rosa damascena essence in the aro- matherapy group and 0.08 mL of normal saline in the control group, every 30 min. Pain was measured 3 times, once each at three stages of cervical dilation （4-5, 6-7, and 8-10 cm）. Anxiety was measured twice, once each at two stages of cervical dilation （4-7 and 8-10 cm）. The tools for data collection were the spielberger anxiety questionnaire, numerical pain rating scale, demographic and obstetric questionnaire, and an observational checklist. Data analyses included the t-test, Mann-Whitney U test and Chi-square test. Main outcome measures： severity of labor pain and severity of anxiety were used as primary outcome measures. Labor and delivery characteristics （including number of contractions, duration of contractions in second stage, Bishop score, augmentation by oxytocin, Apgar score, and mode of delivery）, demographic characteristics, and fertility information were used as secondary outcome measures. Results： Pain severity in the group receiving aromatherapy with R. damoscena was significantly lower than in the control group after treatment at each pain assessment （cervical dilation of 4-5, 6-7, and 8-10 cm; P 〈 0.05）. Anxiety levels were also significantly lower in the treatment group than in the control group after treatment at each time of measurement （cervical dilation of 4-7 and 8-10 cm; P 〈 0.05）. Conclusion： Aromatherapy with R. damascena reduced the severity of pain and anxiety in the first stage of

关键词： Aromatherapy Rosa damasceoa Obstetric labor PainAnxiety Nulliparous

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Unraveling the complexity of polycystic ovary syndrome with animal models

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Journal of Genetics and Genomics 2024年第2期51卷 144-158页

作者： Huanju Liu Mixue Tu Zhiyong Yin Dan Zhang Jun Ma Feng He Center for Genetic Medicine The Fourth Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310058China Key Laboratory of women's reproductive health of Zhejiang Province and department of reproductive Endocrinology Women's HospitalZhejiang University School of MedicineHangzhouZhejiang 310006China Zhejiang Provincial Clinical Research Center for Child health Women's HospitalZhejiang University School of MedicineHangzhouZhejiang 310006China Clinical Research Center on Birth Defect Prevention and Intervention of Zhejiang Province HangzhouZhejiang 310006China Institute of Genetics Zhejiang University International School of MedicineHangzhouZhejiang 310058China Zhejiang Provincial Key Laboratory of Genetic and Developmental Disorder HangzhouZhejiang 310058China

Polycystic ovary syndrome (PCOs) is a highly familial and heritable endocrine disorder. Over half of the daughters born to women with PCOs may eventually develop their own PCOs-related symptoms. Progress in the treatment of PCOs is currently hindered by the complexity of its clinical manifestations and incomplete knowledge of its etiopathogenesis. Various animal models, including experimentally induced, naturally occurring, and spontaneously arising ones, have been established to emulate a wide range of phenotypical and pathological traits of human PCOs. These studies have led to a paradigm shift in understanding the genetic, developmental, and evolutionary origins of this disorder. Furthermore, emerging evidence suggests that animal models are useful in evaluating state-of-the-art drugs and treatments for PCOs. This review aims to provide a comprehensive summary of recent studies of PCOs in animal models, highlighting the power of these disease models in understanding the biology of PCOs and aiding high-throughput approaches.

关键词： Polycystic ovary syndrome Animal model Genetc manipulation Developmnental progtanning Drug screening

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Psychological, social, and sexual challenges affecting men receiving male infertility treatment: a systematic review and implications for clinical care

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Asian Journal of Andrology 2023年第4期25卷 448-453页

作者： Winston Wu Justin La Kathryn M schubach Daniel Lantsberg Darren J Katz department of Urology Western HealthSt AlbansVIC 3021Australia department of Urology Kaiser Permanente San Rafael Medical CenterSan RafaelCA 94903USA Men’s health Melbourne MelbourneVIC 3000Australia reproductive services Unit The Royal Women’s HospitalParkvilleVIC 3052Australia Melbourne IVF East MelbourneVIC 3002Australia department of surgery Western PrecinctUniversity of MelbourneParkvilleVIC 3010Australia

In recent years, social research surrounding the consequences of infertility has increasingly focused on the male perspective;however, a gap exists in the understanding of men’s experiences of male infertility treatment. This review aims to synthesize theexisting evidence concerning the psychological, social, and sexual burden of male infertility treatment on men, as well as patientneeds during clinical care. A systematic search identified 12 studies that are diverse in design, setting, and methods. Psychologicalevaluations have found that urological surgery may have a lasting impact on infertility-specific stress, and treatment failure canlead to feelings of depression, grief, and inadequacy. Men tended to have an avoidant coping mechanism throughout fertilitytreatment, and their self-esteem, relationship quality, and sexual functions can be tied to outcomes of treatment. Partner bonds canbe strengthened by mutual support and enhanced communication;couple separation, however, has been noted as a predominantreason for discontinuing male infertility treatment and may be associated with difficult circumstances surrounding severe maleinfertility. surgical treatments can affect the sexual functioning of infertile men;however, the impact of testicular sperm extractionoutcomes appears to be psychologically driven whereas the improvements after microsurgical varicocelectomy are only evident inhypogonadal men. Clinically, there is a need for better inclusion, communication, education, and resource provision, to addressreported issues of marginalization and uncertainty in men. Routine psychosocial screening in cases of severe male infertility andfollow-up in cases of surgical treatment failure are likely beneficial.

关键词： male infertility male infertility treatment patient experience patient-centered care psychosocial sexual

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Implementation experience of a 12-month intervention to introduce intermittent kangaroo mother care to eight Chinese neonatal intensive care units

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World Journal of Pediatrics 2022年第12期18卷 849-853页

作者： Xin Liu Xiao-Hui Chen Zhan-Kui Li Bei Cao shao-Jie Yue Qiong-Yu Liu Chuan-Zhong Yang Chang-Yi Yang Ying-Xi Zhao Geng-Li Zhao Qi Feng Neonatal Intensive Care Unit Department of PediatricsPeking University First HospitalBeijing 100034China department of Neonatology Nanjing Maternity and Child Health Care HospitalNanjingChina department of Neonatology Northwest Women’s and Children’s HospitalXi’anChina department of Neonatology The Maternal and Child Health Care Hospital of Hunan ProvinceChangshaChina department of Neonatology Xiangya Hospital Central South UniversityChangshaChina department of Neonatology Women&Children’s Health Care Hospital of LinyiLinyiChina department of Neonatology Shenzhen Maternity&Child Healthcare HospitalShenzhenChina department of Neonatology Fujian Provincial Maternity and Children’s HospitalFuzhouChina nuffield department of Medicine University of OxfordOxfordUK department of Obstetrics and Gynecology Peking University First HospitalBeijingChina

Kangaroo mother care(KMC)is recommended by the World health Organization for the care of preterm and low-birth-weight *** has been shown to increase survival rates and the quality of life of preterm and low-birth-weight infants,including improved clinical outcomes,weight gain and thermoregulation when compared to conventional care[1,2,3].More recent research focused on KMC in high-risk preterm,critically ill newborns and newborns requiring special care,which suggested that KMC helped to stabilize the vital signs of preterm infants[4,5].KMC is well accepted and promoted by medical associations and professional organizations around the world[6,7].In November 2015 with support from the National health Commission of China,participants from ten hospitals based in different areas of China received theoretical and practical training on *** a four-year period,health professionals from these hospitals participated in theoretical and practical training,which included two operation training from foreign experts,two academic lectures,and three study tours to hospitals in the UK,sweden and the *** this period,the KMC Operational Manual for Premature Infants in China was developed,and a 12-month prospective multicenter study of KMC for preterm infants was conducted in the eight *** the present study,we further examine whether KMC was sustained as a practice during a 12-month period from April 2018 to March 2019 and the characteristics of preterm infants that received KMC.

关键词： mother sustained promoted

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