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Recent progress in the applications of presynaptic dopaminergic positron emission tomography imaging in parkinsonism

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Neural Regeneration Research 2025年第1期20卷 93-106页

作者： Yujie Yang Xinyi Li Jiaying Lu Jingjie Ge Mingjia Chen Ruixin Yao Mei Tian Jian Wang Fengtao Liu Chuantao Zuo Key Laboratory of Arrhythmias Ministry of EducationDepartment of Medical GeneticsShanghai East HospitalSchool of MedicineTongji UniversityShanghaiChina Department of Neurology National Research Center for Aging and MedicineNational Center for Neurological Disordersand State Key Laboratory of Medical NeurobiologyHuashan HospitalFudan UniversityShanghaiChina Department of Nuclear Medicine&PET center National Center for Neurological Disordersand National Clinical Research Center for Aging and MedicineHuashan HospitalFudan UniversityShanghaiChina International Human Phenome institutes(shanghai) ShanghaiChina Human Phenome institute Fudan UniversityShanghaiChina

Nowadays,presynaptic dopaminergic positron emission tomography,which assesses deficiencies in dopamine synthesis,storage,and transport,is widely utilized for early diagnosis and differential diagnosis of *** review provides a comprehensive summary of the latest developments in the application of presynaptic dopaminergic positron emission tomography imaging in disorders that manifest *** conducted a thorough literature search using reputable databases such as PubMed and Web of *** criteria involved identifying peer-reviewed articles published within the last 5 years,with emphasis on their relevance to clinical *** findings from these studies highlight that presynaptic dopaminergic positron emission tomography has demonstrated potential not only in diagnosing and differentiating various Parkinsonian conditions but also in assessing disease severity and predicting ***,when employed in conjunction with other imaging modalities and advanced analytical methods,presynaptic dopaminergic positron emission tomography has been validated as a reliable in vivo *** validation extends to screening and exploring potential neuropathological mechanisms associated with dopaminergic *** summary,the insights gained from interpreting these studies are crucial for enhancing the effectiveness of preclinical investigations and clinical trials,ultimately advancing toward the goals of neuroregeneration in parkinsonian disorders.

关键词： aromatic amino acid decarboxylase brain imaging dopamine transporter Parkinson’s disease parkinsonism positron emission tomography presynaptic dopaminergic function vesicle monoamine transporter type 2

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A novel homozygous loss-of-function mutation in RAD51AP2 induces male infertility with nonobstructive azoospermia

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Asian Journal of Andrology 2023年第3期25卷 435-437页

作者： Liu Liu Shu-Yan Tang Feng Zhang Feng Jiang Obstetrics and Gynecology Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200011China shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Shanghai 200011China shanghai jiai genetics and ivf institute-china usa center Shanghai 200011China

Dear Editor,The most severe type of male infertility,nonobstructive azoospermia(NOA),is characterized by clinical heterogeneity,implying the involvement of different acquired and genetic ***,the cause of NOA is unidentified in a substantial number of patients after the exclusion of all-known acquired factors and routine genetic testing,such as karyotype and Y chromosome microdeletion analysis.1 With the recent rapid development of whole-exome sequencing(WES),an increasing number of novel monogenic causes have been ***,RAD51-associated protein 2(RAD51AP2)was reported to be a novel causative gene of NOA in a monogenic recessive manner in two sporadic patients.2 Here,we studied the WES data for a family with two NOA patients and found that both carried a novel homozygous loss-of-function(LoF)mutation in RAD51AP2.

关键词： RAD51 routine infertility

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A Preliminary Study on the Evaluation of Human Sperm Head Morphology with a Domestic Digital Holographic Image System

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Phenomics 2022年第2期2卷 130-135页

作者： Hong Zhu Yong Zhu Can Sun Feng Jiang Department of Urology Obstetrics and Gynecology HospitalFudan UniversityShanghai 200011China Human Sperm Bank of Fudan University Obstetrics and Gynecology HospitalFudan UniversityShanghai 200011China shanghai jiai genetics and ivf institute china-usa center Shanghai 200011China

The head of sperm was imaged with domestic digital holographic microscopy(DHM),and then the quantitative three-dimensional size information of normal sperm and teratozoospermic sperm was compared and *** sperm imaging and repeated quantitative evaluation were used to determine the morphology of the sperm head in two patients with teratozoospermia and four volunteers with normal semen *** and 139 sperm of teratozoospermia patients and normal people were photographed by digital hologram,*** differences in head height and width were compared and statistically *** sperm head height of the teratozoospermia group was 3.06±1.66μm,which was significantly lower than that of the normal sperm group(4.54±1.60μm,p<0.01),but there was no significant difference in the head width between the two *** with the traditional two-dimensional optical microscope observation method,the DHM system can provide three-dimensional quantitative information for the sperm head and thus may help in the comprehensive clinical evaluation of the sperm head structure.

关键词： Digital holographic microscopy(DHM) Teratozoospermia Human sperm head morphology

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Comparison of Effects of Recombinant FSH versus Highly Purified Urinary FSH for COH in the Outcome of ivf-ET

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Journal of Reproduction and Contraception 2011年第2期22卷 89-94页

作者： Xian-dong PENG Hua CHEN Ming YU Xiao-xi SUN shanghai jiai genetics ＆ ivf institute Shanghai 200011 China

Objective To investigate the difference in the outcome of ivf-ET between the patients using recombinant FSH versus highly purified urinary FSH for controlled ovarian stimulation （COH）. Methods A comparative retrospective analysis was performed between the patients undergoing ivf using recombinant FSH （rFSH） 562 cycles （rFSH group） versus using highly purified urinary FSH（uFSH） 555 cycles （uFSH group） for COH from August 2009 to July 2010. Main outcome measures included： duration of stimulation, total amount of FSH, E2 level on hCG injection day, number of oocytes collected, average number of frozen embryos, and the rate of cancellation, implantation, clinical pregnancy and miscarriage rate. Results uFSH group required a significantly higher total amount of FSH and a longer duration of stimulation than thouse rFSH group （19.3 ± 7.6 vs 18.3 ± 7.0 ampoules, P=0.02, and 9.1 ± 1.6 d vs 8.9 ± 1.5 d, P=0.04, respectively）. There was no statistically significant difference in the implantation rate, clinical pregnancy rate and miscarriage rate between uFSH and rFSH groups （22.57% vs 20.16%, 38.15% vs 35.18%, and 10.6% vs 13.45%, respectively, P〉0.05）. The other measures including E2 level on hCG injection day, cancellation, number of oocytes collected, fertilization, average number of frozen embryos showed no difference between the two groups. Conclusion There is no significant difference in the outcome of ivf-ET between two groups in effects of recombinant FSH versus highly purified urinary FSH for COH.

关键词： highly purified urinary FSH (HP-uFSH) recombinant FSH ivf outcome

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Prevalent false positives of azoospermia factor a （AZFa） microdeletions caused by single-nucleotide polymorphism rs72609647 in the sY84 screening of male infertility

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Asian Journal of Andrology 2011年第6期13卷 877-880页

作者： Qing Wu Guo-Wu Chen Tao-Fei Yan Hui Wang Yu-Ling Liu Zheng Li Shi-Wei Duan Fei Sun Yun Feng Hui-Juan Shi Reproductive Medical center Ruijin Hospital Shanghai Jiao Tong University School of Medicine Shanghai 200025 China shanghai jiai genetics and ivf institute center of china-usa Shanghai 200011 China Department of Obstetrics and Gynecology Second Military Medical University Shanghai 200433 China china National Population and Family Planning Key Laboratory of Contraceptive Drugs and Devices Shanghai Institute of Planned Parenthood Research Shanghai 200032 China shanghai Human Sperm Bank Shanghai Institute of Andrology Renji Hospital Shanghai Jiao Tong University School of Medicine Shanghai 200001 China School of Medicine Ningbo University Ningbo 315033 China Laboratory for Reproductive Biology School of Life Science University of Science and Technology of China Hefei 230026 China

Multiplex polymerase chain reaction （PCR） has been widely used to detect Y-chromosome micredeletions, which is one of the major causes of male infertility. Both the European Academy of Andrology （EAA） and the European Molecular genetics Quality Network （EMQN） have recommended the use of sY84 and sY86 markers for the detection of azoospermia factor a （AZFa） microdeletion during DNA testing for male infertility. In this study, a large-scale analysis of AZF microdeletion in a total of 630 Chinese males, including healthy semen donors （n=200）, infertile males with normal sperm count （n=226） and patients with either nonobstructive azoospermia or severe oligozoospermia （n=204）, was performed. A series of nine sequence-tagged site （STS） markers from the AZF region of the Y chromosome was used to detect microdeletions. All primers were designed based on the recommendations of the National center for Biotechnology Information. An unusually high incidence （73/630, 11.6%） of sY84-absent but sY86-present genotypes was observed in the AZFa microdeletion screening. Sequencing the sY84-flanking region revealed a total of 73 patients with sY84-absent but sY86-present genotypes have a T-to-G transversion at the fifth base from the 5＇ end of the reverse sY84 primer. These prevalent false positives, which were not only observed in infertile men, but also observed in donors, resulted from a single-nucleotide polymorphism （SNP） named rs72609647 in the targeting sequence of the reverse sY84 primer. Our study suggests that a pre-screening of existence of rs72609647 polymorphism can prevent the frequent false positive results of AZFa microdeletions detection in the infertile Chinese males. Given the SNP rs72609647 was recently found in a deep sequencing of a Chinese individual, the current EAA and EMQN standards may need to be scrutinized among different populations to avoid the potential genetic variations in the primer binding sequences.

关键词： male infertility multiplex polymerase chain reaction rs72609647 single-nucleotide polymorphism sY84 Y-chromosomemicrodeletion

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Evaluation of inactivated COVID-19 vaccine on semen parameters in reproductive-age males:a retrospective cohort study

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Asian Journal of Andrology 2022年第5期24卷 441-444页

作者： Hong Zhu Xiao Wang Feng Zhang Yong Zhu Mei-Rong Du Zhi-Wen Tao Can Sun Hai-Tao Ma Ya-Dong Li Guo-Qing Liang Jie Ren Bai-Lan Feng Feng Jiang Human Sperm Bank Obstetrics and Gynecology HospitalFudan UniversityShanghai 200011China shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Obstetrics and Gynecology HospitalFudan UniversityShanghai 200011China Department of Andrology Shanghai Ji Ai Genetics and IVF institute China-USA CenterShanghai 200011China

During the coronavirus disease(COVID-19)epidemic,there have been concerns about the impact of vaccines on people’s fertility,including the fertility of those who are currently preparing for pregnancy and those who might become pregnant in ***,there is still a lack of research on the effect of the COVID-19 vaccine on male fertility,and it is not surprising that couples and donors have concerns regarding *** this study,a retrospective cohort study was conducted to examine semen quality before and after receipt of the inactivated COVID-19 *** were no statistically significant changes in semen parameters(volume,sperm concentration,progressive motility,and total progressive motile count)after two doses of vaccine(all P>0.05).In summary,our study updates the most recent studies on the effects of the COVID-19 vaccine on male fertility,and the information from this study could be used to guide fertility recommendations for assisted reproductive technology(ART)patients and donors.

关键词： assisted reproductive technology coronavirus disease vaccine male fertility semen parameters sperm donation

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Factors Influencing Pregnancy Outcome Following Slow Cooling Cryoembryo Transfer and Risk of Multiple Conception

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Journal of Reproduction and Contraception 2008年第2期19卷 93-100页

作者： Su-ying LIU Jin-lan HAN Bin TENG Zhu-di LU Yu ZHENG Ying CAO Xiang CAO Ning-yi WANG Bin HUANG Jing-ming YAN shanghai jiai genetics ＆ ivf institute Obstetrics ＆ Gynecology Hospital Fudan University Shanghai 200011 China

Objective To investigate the factors that influence the potential for cryoembryo implantation and multiple pregnancy. Methods In this retrospective study, a total of 93 7 thawing cycles （859 couples） in which 3286 d 3-embryos were thawed. Rates of implantation, clinical pregnancy and multiple conception following FET were observed. Results There were significant differences in female age （P〈0.05） and number of good quality embryos （P〈0. 05） between cycles that resulted in pregnancy and those did not. There was a trend toward decreasing rates of implantation, clinical pregnancy and multiple pregnancy with increasing female age. Compared with transferring 1 good quality embryo, clinical pregnancy rate of transferring 2 and 3 good quality embryos was increased significantly （P〈0. 001）, there was no significant difference in clinical pregnancy rate between transferring 2 and 3 good quality embryos. Multiple pregnancy rate was increased significantly in the group of transferring 3 good quality embryos （P〈0.05）,but there was no significant differences in multiple pregnancy rate between transferring 1 and 2 good quality embryos. Younger women （≤ 30 years） also had a significantly higher multiple pregnancy rates （28.13%） than the older ones（〉35 years）（13.64%）. With an increase in age from ≤ 30 years to〉40 years, clinical pregnancy rate declined from 47 61% to 25.00%.Conclusion Female age and the number of gooa quality embryos transferred are important factors influencing the clinical and multiple pregnancy rate, reducing the number of good quality embryos transferred may decrease the rate of multiple pregnancy but do not affect the clinical pregnancy rate.

关键词： in vitro fertilization cryopreservation embryo transfer clinical pregnancy multiple pregnancy

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The forty years of medical genetics in china

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Journal of genetics and Genomics 2018年第11期45卷 569-582页

作者： Lei Cai Lan Alice Zheng Lin He Bio-X institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education)Collaborative Innovation Center for Genetics and DevelopmentShanghai Jiao Tong UniversityShanghai 200240China shanghai center for Women and Children's Health Shanghai 200062China Stanley center Broad InstituteCambridgeMA 02142USA

Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In china, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy,Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, china is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a wellconstructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection,along with strong support at the national industry level.

关键词： Medical genetics GWAS CRISPR Cancer Monogenic diseases Complex diseases Genetic diagnosis Gene therapy

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Effect of dissolved oxygen on nitrate removal using polycaprolactone as an organic carbon source and biofilm carrier in fixed-film denitrifying reactors

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Journal of Environmental Sciences 2016年第5期28卷 147-152页

作者： Guozhi Luo Guimei Xu Jinfang Gao Hongxin Tan College of Fisheries and Life Science of shanghai Ocean University Shanghai 201306 China shanghai Collaborative Innovation center for Aquatic Animal genetics and Breeding Shanghai 201306 China Research and Development center of Aquacultural Engineering of shanghai Shanghai 201306 China

Nitrate-nitrogen（NO_3^--N） always accumulates in commercial recirculating aquaculture systems（RASs） with aerobic nitrification units. The ability to reduce NO_3^--N consistently and confidently could help RASs to become more sustainable. The rich dissolved oxygen（DO）content and sensitive organisms stocked in RASs increase the difficulty of denitrifying technology. A denitrifying process using biologically degradable polymers as an organic carbon source and biofilm carrier was proposed because of its space-efficient nature and strong ability to remove NO_3^--N from RASs. The effect of dissolved oxygen（DO） levels on heterotrophic denitrification in fixed-film reactors filled with polycaprolactone（PCL） was explored in the current experiment. DO conditions in the influent of the denitrifying reactors were set up as follows： the anoxic treatment group（Group A, average DO concentration of 0.28 ± 0.05 mg/L）, the low-oxygen treatment DO group（Group B, average DO concentration of 2.50 ± 0.24 mg/L） and the aerated treatment group（Group C, average DO concentration of 5.63 ± 0.57 mg/L）. Feeding with 200 mg/L of NO_3^--N, the NO_3^--N removal rates were 1.53, 1.60 and 1.42 kg/m3PCL/day in Groups A, B and C, respectively. No significant difference in NO_3^--N removal rates was observed among the three treatments. It was concluded that the inhibitory effects of DO concentrations lower than 6 mg/L on heterotrophic denitrification in the fixed-film reactors filled with PCL can be mitigated.

关键词： Heterotrophic denitrification Dissolved oxygen Biodegradable polymers Polycaprolactone Recirculating aquaculture system

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Sperm Donors in shanghai,china:A Study of Motivations,Characteristics,and Semen Parameters of Actual Sperm Donors

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Reproductive and Developmental Medicine 2021年第4期5卷 213-219页

作者： Xiao Wang Min-Xin Chen Feng Zhang Guo-Qing Liang Hong Zhu Bai-Lan Feng Zhi-Wen Tao Feng Jiang Department of Human Sperm Bank and President Office Obstetrics&Gynecology Hospital of Fudan UniversityShanghai 200000China Department of Andrology Shanghai JIAI Genetics&IVF institute-China USA CenterShanghai 200011China

Objective:To identify the sociodemographic characteristics,motivations,and semen parameters of sperm donors in shanghai,***:The participants were sperm donors associated with the Human Sperm Bank of Fudan University in shanghai,*** the 334 sperm donors that applied for participation,329 completed the survey *** responses obtained in the questionnaire and face-to-face interviews were used to investigate the donor motivations and characteristics,and the semen quality was examined to identify the sperm ***:In terms of the sociodemographic characteristics,an altruistic donor in this study was aged between 26 and 30 years,was single,did not have a child,had a college or undergraduate education level,was of the Han ethnicity,and worked full *** strongest motivation highlighted by sperm donors was a donation for altruistic(26.4%,n=87)*** second-highest rated motivation was curiosity(20.7%,n=68),followed by a desire to procreate(17.9%,n=59)."Complimentary body checks"(14.3%,n=47)and"financial incentives"(14.7%,n=47)were regarded as less *** average semen parameters of the 329 donors were as follows:the semen volume was 3.39±1.21 mL,the semen concentration was 82.75×10^(6)/mL,the progressive motility rate(PR%)was 63.77%±3.13%,the total motility rate was 66.26%,the total progressive motile count was 158.31%±54.43×10^(6)/mL,and the round cell concentration was 0.38±0.51×10^(6)/*** PR%of the procreation motivation group was significantly higher than that of the other motivation groups(Pshanghai,china,are altruistic about their donation,although curiosity is also a key *** addition,the decisions of donors are culturally influenced,and the motivation to procreate may influence the PR%.

关键词： Assisted Reproductive Technology Donation Semen Parameters Sperm Donors

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