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Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella

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Asian Journal of Andrology 2023年第4期25卷 512-519页

作者： Meng Wang Qi-Yu Yang Jue-Pu Zhou Hui-Ping Tan Juan Hu Lei Jin Li-Xia Zhu Reproductive medicine Center Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

This study aimed to identify genetic causes responsible for multiple morphological abnormalities of the sperm flagella(MMAF)in the Han Chinese *** primary infertile males with completely immobile sperm and MMAF were ***-exome sequencing and Sanger sequencing were performed to identify disease-causing ***,morphological and ultrastructural analyses of sperm flagella were *** probable impact of genetic variants on protein function was analyzed by online bioinformatic tools and immunofluorescence *** patients with dynein axonemal heavy chain 1(DNAH1)gene compound heterozygous variations were ***1 c.7435C>T,p.R2479X and c.10757T>C,p.F3586S were identified in the patient from Family 1,c.11726_11727delCT,p.P3909fs and c.12154delC,p.L4052fs were found in the patient from Family 2,and c.10627-3C>G and c.11726_11727delCT,p.P3909fs existed in the patient from Family *** of these variations have not been reported,and all the mutations showed pathogenicity by functional effect *** absence of the center pair and disorganization of the fibrous sheath were present in sperm flagella at the ultrastructural ***,the expression of DNAH1 was absent in spermatozoa from the participants,validating the pathogenicity of the *** three couples have undergone intracytoplasmic sperm injection(ICSI),and two couples of them became pregnant after the *** conclusion,the newly identified DNAH1 mutations can expand the mutational and phenotypic spectrum of MMAF genes and provide a theoretical basis for genetic diagnosis in MMAF *** is recommended to conduct genetic screening in male infertility patients with MMAF and provide rational genetic counseling,and ICSI might be an optimal strategy to help with fertilization and conception for patients with DNAH1 mutations.

关键词： DNAH1 intracytoplasmic sperm injection male infertility MMAF mutation

Protective effect of Liangxue Huayu decoction on human retinal pigment epithelial cell(ARPE-19)injury induced by hypoxia through autophagy pathway

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Pharmacology Discovery 2024年第1期4卷 44-50页

作者： Han-Ran Zheng Yi-Tong Lin Sheng Chen Zi-Yang Chen Jun-Chang Cao Zhao-Da Ye Yan-Hong Hu college of graduate Fujian University of Traditional Chinese MedicineFujian 350122China Department of Ophthalmology The Second People's Hospital Affiliated to Fujian University of Traditional Chinese MedicineFujian 350003China Comprehensive Outpatient Department Fujian Academy of Traditional Chinese Medicine SciencesFujian 350003China

Background:Exploring the protective mechanism of the Liangxue Huayu(LXHY)decoction on human retinal pigment epithelial(RPE)cells induced by hypoxia through the autophagy ***:The appropriate LXHY decoction concentration was determined by ***-19 cells were divided into the normal control group(A group),CoCl_(2)group(B group),3-Methyladenine(3-MA)group(treated with 3-MA(the inhibition of autophagy pathway))(C group),blank serum(BS)group(D group),LXHY drug-contained serum(DCS)group(E group),and Rapamycin(RAP)group[treated with LXHY drug-contained serum combined with rapamycin group(the activation of autophagy pathway)](F group).Counting the number of autophagosomes and autolysosomes in each group of cells under transmission electron *** infection of cells in each group by mRFP-GFP-LC3 fusion protein adenovirus,the strength of autophagic flux was *** mRNA expression levels of LC3 and Beclin-1 were detected by ***:CCK-8 assay results showed that LXHY DCS could inhibit the cell proliferation of ARPE-19 under hypoxia(all P<0.05).As the transmission electron microscopy assay result showed,compared with the normal control group,the number of autolysosomes was significantly increased in the CoCl_(2)group(P<0.05).Compared with CoCl_(2)group,the number of autolysosomes was significantly reduced the 3-Methyladenine group,blank serum group and LXHY drug-contained serum group(all P<0.001).As autophagic flux assay result showed,compared with the normal control group,the level of autophagosomes and autolysosomes were significantly risen in CoCl_(2)group(all P<0.001).Compared with the CoCl_(2)group,the level of autophagosomes and autolysosomes were significantly fell down in 3-Methyladenine group,blank serum group and LXHY drug-contained serum group(all P<0.05).The level of autolysosomes in the LXHY drug-contained serum group was lower than in the blank serum group(P<0.05).Compared with the LXHY drug-contained serum group,the levels o

关键词： Liangxue Huayu decoction age-related macular degeneration autophagy lysosome autophagosomes

Evaluation of A Scale of Patient-Reported Outcomes for the Assessment of Myasthenia Gravis Patients in China

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Chinese Journal of Integrative medicine 2012年第10期18卷 737-745页

作者：刘凤斌陈新林郭丽刘小斌 Department of Internal medicine The First Affiliated HospitalGuangzhou University of Chinese Medicine college of Basic Medical Science Guangzhou University of Chinese Medicine The Second Hospital Liwan District of Guangzhou The DENG Tietao Institute Guangzhou University of Chinese Medicine

Objective： To evaluate a scale of patient-reported outcomes for the assessment of myasthenia gravis patients （MG-PRO） in China. Methods： A total of 100 MG patients were interviewed for the field testing. Another 56 MG patients were selected and assessed with the MG-PRO scale before treatment and at 1, 2 and 4 weeks after treatment. The classical test theory and item response theory （IRT） were used to assess the psychometric characteristics of the MG-PRO scale, Results： The MG-PRO scale included 4 dimensions： physical, psychological, social environment, and treatment. Confirmatory factor analysis showed that each dimension was consistent with the theoretical construct. The scores of the physical and psychological dimensions increased significantly at 1 week after treatment （P〈0.05）. All the dimension scores and the MG-PRO score increased significantly at 2 and 4 weeks after treatment （P〈0.05）. IRT showed that person separation indices were greater than 0.8, most of the item fit residual statistics were within ＋ 2.5, and no item had uniform or non-uniform differential item functioning （DIF） between gender and age （〈40, 〉140）. Conclusions： The MG-PRO scale is valid for measuring the quality of life （QOL） of MG patients, with good reliability, validity, responsiveness, and good psychometric characteristics from IRT. It can be applied to evaluate the QOL of MG patients and to assess treatment effects in clinical trials.

关键词： myasthenia gravis quality of life patient-reported outcome classical test theory item response theory

p75 neurotrophin receptor signal pathway influence on apoptosis in anterior horn neurons of the spinal cord in a rat model of cauda equina compression injury

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Neural Regeneration Research 2009年第12期4卷 979-985页

作者： Haopeng Li Jie Chen Xijing He Siyue Xu Yu Liu Department of Orthopaedics Second Affiliated Hospital College of Medicine Xi'an Jiaotong University Xi'an 710004 Shaanxi Province China

BACKGROUND： Studies have demonstrated that cauda equina compression results in apoptosis of motor neurons in the spinal cord. The combination of p75 neurotrophin receptor （p75NTR） and precursor of nerve growth factor （pro-NGF） expression initiates the apoptotic pathway and induces neuronal apoptosis. However, few reports have focused on the p75-mediated mechanism of neuronal apoptosis following cauda equine compression injury OBJECTIVE： To determine apoptosis of spinal cord neurons and activation of the pro-NGF-p75NTR-JNK（c-Jun N-terminal kinase） signal pathway in rats following cauda equina compression, and to verify experimental outcomes. DESIGN, TIME AND SETTING： A randomized, controlled, in vivo experiment was performed at the Medical Experimental Center of Xi＇an Jiaotong University between April and November in 2008. MATERIALS： Streptavidin-perosidase kit was purchased from Wuhan Boster, China; in situ end labeling detection kit was provided by Promega, USA; type AEG-220G electron microscope was purchased from Hitachi, Japan. METHODS： A total of 48 healthy, adult, female, Sprague Dawley rats were randomly assigned to three groups： normal （n = 6）, sham-surgery （n = 6）, and compression （n = 36）. The compression group was randomly assigned to six subsets at 1,3, 5, 7, 14, and 28 days, respectively, with 6 rats in each subset. A cylindrical silica gel stick was implanted into the rats to compress 75% of the vertebral canal in the compression group; in the sham-surgery group, only vertebral resection was performed; and no procedures were performed in the normal group. MAIN OUTCOME MEASURES： At 1,3, 5, 7, 14, and 28 days following compression, L2-3 spinal cord segments were processed for immunohistochemistry, in situ cell apoptosis detection, and transmission electron microscopy observation. Nissl staining was used to observe neuronal survival in the L2 spinal cord segment. Immunohistochemistry was applied to detect expressions of pro-NGF, p75NTR, and JNK in the L2 s

关键词： cauda equina syndrome p75 neurotrophin receptor spinal cord neurons apoptosis anterior horn

Free radical scavenging window of infertile patients with polycystic ovary syndrome： correlation with embryo quality

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Frontiers of medicine 2017年第2期11卷 247-252页

作者： Bo Huang Zhou Li Xinling Ren Jihui Ai Lixia Zhu Lei Jin Reproductive medicine Center Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030China

The activity of free radicals in follicular fluid was related to ovarian responsiveness, in vitro fertilization （IVF）, and embryo transfer success rate. However, studies analyzing the relationship between the free radical scavenging capacity and embryo quality of infertile women with polycystie ovarian syndrome （PCOS） were lacking. The aim of this study was to evaluate the relationship between the free radical scavenging window of women with PCOS and their embryo quality. The free radical scavenging capacity of follicular fluid from women with PCOS was determined by a,a-diphenyl-b-picrylhydrazyl （DPPH）, 2,2-azinobis （3-ethylbenzthiazoline-6- sulphonic acid） assay, superoxide radical, and reactive oxygen species （ROS） assay. In the DPPH and ROS assays, the follicular fluid from grades I and II embryos was significantly higher than the follicular fluid from grades III and IV embryos. The lower control limit of DPPH radical scavenging capacity and upper control limit of ROS level were 13.2% and 109.0 cps, respectively. The calculated lower control limit and upper control limit were further confirmed in the follicular fluid of embryos of all grades. These cut-off values of free radical scavenging activity of follicular fluid could assist embryologists in choosing the development of embryos in PCOS patients undergoing IVF.

关键词： in vitro fertilization PCOS free radical embryo quality

State of the art in flexible SERS sensors toward label-free and onsite detection:From design to applications

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Nano Research 2022年第5期15卷 4374-4394页

作者： Liping Xie Hedele Zeng Jiaxin Zhu Zelin Zhang Hong-bin Sun Wen Xia Yanan Du college of medicine and Biological Information Engineering Northeastern UniversityShenyang 110169China Department of Biomedical Engineering School of MedicineTsinghua UniversityBeijing 100084China Department of Chemistry Northeastern UniversityShenyang 110819China

Surface-enhanced Raman scattering(SERS)as a powerful non-invasive spectroscopic technique has been intensively used in bio/chemical sensing,enabling ultrasensitive detection of various analytes and high specificity with a fingerprint-like *** SERS sensors conformally adapting to nonplanar surfaces and allowing swab-sampling or in-situ detection of analytes,which are not achievable for rigid SERS sensors,greatly meet the demand of onsite and real-time ***,the rational design and fabrication of flexible SERS-based sensors for point-of-care diagnostics aiming to simultaneously achieve extremely high sensitivity,stability,and good signal reproducibility remain many *** present a state-of-the-art review of the flexible SERS *** are devoted to engineering plasmonic substrates for improving the performance of flexible SERS *** of constructing the flexible SERS sensors toward point-of-care detection are investigated in *** algorithms assisting the SERS data process are also presented for intelligently distinguishing the species and contents of *** promising applications of flexible SERS sensors in medical diagnostics,environmental analyses,food safety,and forensic science are *** flexible SERS devices serving as powerful analytical tools shed new light on the in-situ and point-of-care detection of real-world analytes in a convenient,facile,and non-destructive manner,and especially are conceivable to serve as next-generation wearable sensors for healthcare.

关键词： surface-enhanced Raman scattering(SERS) flexible sensor point of care swab-sampling algorithms

The Chinese Society of Clinical Oncology (CSCO): Clinical guidelines for the diagnosis and treatment of gastric cancer, 2023

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Cancer Communications 2024年第1期44卷 127-172页

作者： Feng-Hua Wang Xiao-Tian Zhang Lei Tang Qi Wu Mu-Yan Cai Yuan-Fang Li Xiu-Juan Qu Hong Qiu Yu-Jing Zhang Jie-Er Ying Jun Zhang Ling-Yu Sun Rong-Bo Lin Chang Wang Hao Liu Miao-Zhen Qiu Wen-Long Guan Sheng-Xiang Rao Jia-Fu Ji Yan Xin Wei-Qi Sheng Hui-Mian Xu Zhi-Wei Zhou Ai-Ping Zhou Jing Jin Xiang-Lin Yuan Feng Bi Tian-Shu Liu Han Liang Yan-Qiao Zhang Guo-Xin Li Jun Liang Bao-Rui Liu Lin Shen Jin Li Rui-Hua Xu Department of Medical Oncology Sun Yat-sen University Cancer CenterState Key Laboratory of Oncology in South ChinaCollaborative Innovation Center for Cancer MedicineGuangzhouGuangdongP.R.China Department of Gastrointestinal Oncology Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education)Peking University Cancer HospitalBeijingP.R.China Department of Radiology Peking University Cancer HospitalBeijingP.R.China Department of Endoscopy Center Peking University Cancer HospitalBeijingP.R.China Department of Pathology Sun Yat-sen University Cancer CenterState Key Laboratory of Oncology in South ChinaCollaborative Innovation Center of Cancer MedicineGuangzhouGuangdongP.R.China Department of Gastric Surgery Sun Yat-sen University Cancer CenterState Key Laboratory of Oncology in South ChinaCollaborative Innovation Center for Cancer MedicineGuangzhouGuangdongP.R.China Department of Medical Oncology The First Hospital of China Medical UniversityShenyangLiaoningP.R.China Department of Medical Oncology Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and TechnologyWuhanHubeiP.R.China Department of Radiotherapy Sun Yat-sen University Cancer CenterState Key Laboratory of Oncology in South ChinaCollaborative Innovation Center for Cancer MedicineGuangzhouGuangdongP.R.China Department of Medical Oncology Zhejiang Cancer HospitalHangzhouZhejiangP.R.China Department of Medical Oncology Ruijin HospitalShanghai Jiaotong University School of MedicineShanghaiP.R.China Department of Surgical Oncology The Fourth Affiliated Hospital of Harbin Medical UniversityHarbinHeilongjiangP.R.China Department of Medical Oncology Fujian Cancer HospitalFuzhouFujianP.R.China Tumor Center The First Hospital of Jilin UniversityChangchunJilinP.R.China Department of General Surgery Nanfang HospitalSouthern Medical UniversityGuangzhouGuangdongP.R.China Department of Radiology Zhongshan HospitalFudan UniversityShanghaiP.R.China Department of

The 2023 update of the Chinese Society of Clinical Oncology(CSCO)Clini-cal Guidelines for Gastric Cancer focuses on standardizing cancer diagnosis and treatment in China,reflecting the latest advancements in evidence-based medicine,healthcare resource availability,and precision *** updates address the differences in epidemiological characteristics,clinicopatho-logical features,tumor biology,treatment patterns,and drug selections between Eastern and Western gastric cancer *** revisions include a structured template for imaging diagnosis reports,updated standards for molecular marker testing in pathological diagnosis,and an elevated recommendation for neoadju-vant chemotherapy in stage III gastric *** advanced metastatic gastric cancer,the guidelines introduce new recommendations for immunotherapy,anti-angiogenic therapy and targeted drugs,along with updated management strategies for human epidermal growth factor receptor 2(HER2)-positive and deficient DNA mismatch repair(dMMR)/microsatellite instability-high(MSI-H)***,the guidelines offer detailed screening recommendations for hereditary gastric cancer and an appendix listing drug treatment regimens for various stages of gastric *** 2023 CSCO Clinical Guidelines for Gastric Cancer updates are based on both Chinese and international clinical research and expert consensus to enhance their applicability and relevance in clinical practice,particularly in the heterogeneous healthcare landscape of China,while maintaining a commitment to scientific rigor,impartiality,and timely revisions.

关键词： Chinese Society of Clinical Oncology(CSCO) gastric cancer diagnosis surgery neoadjuvant adjuvant radiotherapy chemotherapy targeted therapy immunotherapy

Should few retrieved oocytes be as an indication for intracytoplasmic sperm injection?

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2012年第9期13卷 717-722页

作者： Qing-song XI Li-xia ZHU Juan HU Li WU Han-wang ZHANG Reproductive medicine Center Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China

Objective:To reevaluate whether relatively few oocytes obtained in one cycle are an indication for intracytoplasmic sperm injection(ICSI).Methods:A total of 406 cycles with three or fewer retrieved oocytes performed in 396 non-male infertile couples were retrospectively *** were classified into three groups by different fertilization techniques:the in vitro fertilization(IVF) group,insemination with conventional IVF;the ICSI group,insemination with ICSI though semen parameters were normal;and the rescue ICSI group,re-insemination with ICSI after conventional IVF ***:The ICSI group resulted in higher normal fertilization compared with the conventional IVF ***,the cycle cancellation rate was decreased in the ICSI group,though it was not statistically *** clinical pregnancy rate and implantation rate were lower in the ICSI group compared with the conventional IVF *** ICSI was a method to avert total fertilization failure in conventional IVF,increasing fertilization and ensuring embryo availability for transfer,but the normal fertilization was the lowest due to delayed insemination and the chance of pregnancy was very ***:Obtaining only few oocytes in one cycle is not considered as an indication for ICSI when the sperm sample is apparently *** ICSI is either not recommended if conventional insemination *** patients should not be subjected to the unnecessary costs and potential risks of ICSI.

关键词： Fertilization rate Intracytoplasmic sperm injection (ICSI) Indication Oocyte number Patient age

Occupational hand injuries:a current review of the prevalence and proposed prevention strategies for physical therapists and similar healthcare professionals

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Journal of Integrative medicine 2018年第2期16卷 84-89页

作者： Giles Gyer Jimmy Michael James Inklebarger The London college of Osteopathic medicine 8-10 Boston PlaceLondon NWI 6QHUnited Kingdom

Hand injury is the second most common work-related musculoskeletal injury among physical therapists （PTs） and other manual therapy professionals such as osteopaths, physiotherapists, chiropractors, acupuncturists and massage therapists. However, the nature and extent of this problem have not been fully explored yet. Therefore, the objective of this study was to review the existing literature published on the prevalence, risk factors, consequences, and prevention of hand injuries among PTs and similar healthcare professionals. The lifetime prevalence of hand injuries was about 15%-46%, and the annual prevalence was reported as 5%-30%. Thumb injuries were found to be the most prevalent of all injuries, accounting more than 50% of all hand-related problems. The most significant risk factors for job-related hand injuries were performing manual therapy techniques, repetitive workloads, treating many patients per day, continued work while injured or hurt, weakness of the thumb muscles, thumb hypermobility, and instability at the thumb joints. Frs reported modifying treatment technique, taking time off on sick leave, seeking intervention, shifting the specialty area, and decreasing patient contact hours as the major consequences of these injuries. The authors recommend that PTs should develop specific preventive strategies and put more emphasis on the use of aids and equipment to reduce the risk of an unnecessary injury.

关键词： Occupational injuries Public health Physical therapists Occupational therapists Complementary therapies