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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

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Physical rehabilitation for sensorineural hearing loss in childhood:Progress and challenges

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World Journal of Clinical Cases 2025年第7期13卷 57-62页

作者： Lu Zhang pu-jue Huang Xue Deng Jiao Tang Yang Zhai Tao Wang Department of Pediatrics Luzhou Maternal and Child Health HospitalLuzhou 646600Sichuan ProvinceChina Department of Pediatrics West China Second University HospitalSichuan UniversityChengdu 610041Sichuan ProvinceChina Department of Pediatrics The First People's Hospital of Longquanyi DistrictChengdu 610100Sichuan ProvinceChina Ministry of Education Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University)Chengdu 610041Sichuan ProvinceChina Department of Pediatrics Chengdu Women’s and Children’s Central HospitalChengdu 610000Sichuan ProvinceChina

Early intervention for sensorineural hearing loss(SNHL)in childhood is crucial for auditory and language *** recent years,innovative auditory stimulation techniques and speech therapy strategies,such as middle ear implants,cochlear implants,auditory brainstem implants,and midbrain implants,have provided new avenues for improving patient ***,basic research advancements in cell reprogramming and regeneration,stem cell therapy,and targeted drug delivery offer promising approaches to meet the individualized needs of children with ***,many challenges and unresolved issues remain in the treatment of *** article comments on the case report,which describes a female pediatric patient with SNHL who underwent foot reflexology which led to the normalization of hearing *** is considered to have potential benefits in physical rehabilitation,but its efficacy in hearing restoration requires further scientific validation through rigorous clinical trials and large-scale prospective studies.

关键词： Sensorineural hearing loss Childhood Physical rehabilitation therapy Recent advances in rehabilitation techniques Reflexology

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Improving Efficiency of Red Thermally Activated Delayed Fluorescence Emitter by Introducing Quasi-Degenerate Orbital Distribution

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Chinese Journal of Chemistry 2022年第8期40卷 911-917页

作者： Hao-Yu Yang Ming Zhang jue-Wen Zhao Chun-Peng pu Hui Lin Si-Lu Tao Cai-Jun Zheng Xiao-Hong Zhang School of Optoelectronic Science and Engineering University of Electronic Science and Technology of ChinaChengduSichuan 610054China Institute of Functional Nano&Soft Materials(FUNSOM) Soochow UniversitySuzhouJiangsu 215123China

Red thermally activated delayed fluorescence(TADF)emitters are essential for the development of organic light-emitting diodes(OLEDs).To better understand and develop red TADF emitters,herein,the effect of quasi-degenerate orbital distribution was inves-tigated on their *** red TADF emitters 10,10'-(11,12-difluorodibenzo[a,c]phenazine-3,6-diyl)bis(10H-phenoxazine)(DPXZ-BPF)and 10,10',10"-(12-fluorodibenzo[a,c]phenazine-3,6,11-triyl)tris(10H-phenoxazine)(TPXZ-BPF)were constructed by combining two or three phenoxazine(PXZ)donor units with a rigid coplanar acceptor *** expected,a couple of PXZ units can induce quasi-degenerate orbital distribution by virtue of the high steric hindrance between each donor unit and acceptor core,which enables multiple excited states engaged in the reverse intersystem crossing(RISC)***,DPXZ-BPF and TPXZ-BPF exhibit fast RISC rates(k_(RISCs))of 1.07×10^(6) s^(-1) and 1.29×10^(6) s^(-1) and high PLQYs of 74.6% and 81.1%,*** the higher kRISC and PLQY of TPXZ-BPF are mainly attributed to the additional quasi-degenerate orbitals,which further enhance the tri-plet RISC process and the singlet radiative *** a result,TPXZ-BPF-based OLEDs achieved improved efficiencies with a red-shifted emission compared with DPXZ-BPF-based *** results demonstrated the tremendous potential of introducing quasi-degenerate orbital distribution in developing red TADF emitters.

关键词： Organic light-emitting diodes Quasi-degenerate orbital distribution Density functional calculations Molecular dynamics Steric hindrance

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Recurrent hemoptysis in pediatric bronchial Dieulafoy’s disease with inferior phrenic artery supply:A case report

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World Journal of Clinical Cases 2023年第26期11卷 6268-6273页

作者： Fang Wang Jiao Tang Mou Peng pu-jue Huang Li-Juan Zhao Yin-Yue Zhang Tao Wang Department of Pediatric Cardiology West China Second University HospitalSichuan UniversityChengdu 610041Sichuan ProvinceChina Department of Pediatrics The First People's Hospital of Longquanyi DistrictChengdu 610041Sichuan ProvinceChina Department of Pediatrics Western Theater General HospitalChengdu 610041Sichuan ProvinceChina Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University) Ministry of EducationChengdu 610041Sichuan ProvinceChina Key Laboratory of Development and Diseases of Women and Children of Sichuan Province Chengdu 610041Sichuan ProvinceChina

BACKGROUND Bronchial Dieulafoy’s disease(BDD)is characterized by the erosion of an anomalous artery in the submucosa of the *** etiology of pediatric BDD is mainly congenital dysplasia of bronchus and pulmonary arteries,which is different from chronic inflammatory injury of the airway in adult *** internal thoracic artery,subclavian artery,and intercostal artery are known to be involved in the blood supply to the BDD lesion in *** SUMMARY We report a case of BDD in a 4-year-old boy with recurrent hemoptysis for one *** angiography showed a dilated right bronchial artery,and anastomosis of its branches with the right lower pulmonary vascular *** showed nodular protrusion of the bronchial mucosa with a local *** embolization of the bronchial artery was performed to stop *** month after the first intervention,the symptoms of hemoptysis recurred.A computed tomography angiogram(CTA)showed another tortuous and dilated feeding artery in the right lower lung,which was an abnormal ascending branch of the inferior phrenic artery(IPA).The results of angiography were consistent with the CTA *** IPA was found to be another main supplying artery,which was not considered during the first ***,the IPA was also treated by microsphere embolization combined with coil interventional *** the one-year follow-up,the patient never experienced *** The supplying arteries of the bleeding lesion in children with BDD may originate from multiple different aortopulmonary collateral arteries,and the IPA should be considered to reduce missed *** is a noninvasive radiological examination for the screening of suspected vessels,which shows a high coincidence with angiography,and can serve as the first choice for the diagnosis of BDD.

关键词： Hemoptysis Child Bronchial Dieulafoy’s disease Inferior phrenic artery Interventional treatment Case report

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The sensitivity of neurons with non-periodic activity to sympathetic stimulation in rat injured dorsal root ganglion

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Neuroscience Bulletin 2006年第1期22卷 14-20页

作者： Hong-Jun YANG San-jue HU pu-Lin GONG Jian-Hong DUAN Department of neurology Guangzhou Liuhuaqiao Hospital Guangzhou 50010 China Institute of Neuroscience The Fourth Military Medical University Xi＇an 710032 China Department of Engineering Mechanics Xi＇an Jiaotong University Xi＇an 710049 China

Objective The relationship between compressed dorsal root ganglion （DRG） neurons and firing pattern and sensitivity of neurons was studied in chronically the Hindmarsh-Rose （HR） neuronal model. Methods Spontane- ous activities from single fibers of chronically compressed DRG neurons in rats were recorded, and divided into periodic and non-periodic firing patterns. The sensitivity of the two kinds of firing pattern neuron to sympathetic stimulation （SS） was compared. Result It was found that 27.3% of periodic firing neurons and 93.2% of non-periodic firing neurons responded to SS respectively （ periodic vs non-periodic, P 〈 0.01 ）. The responses to SS with different stimulation time were greater non-periodic firing neurons than periodic firing neurons （P 〈 0.01 ）. The non-periodic firing neurons obviously responded to SS. After the firing pattern of these neurons transformed to periodic firing pattern, their responses to SS disappeared or decreased obviously. The HR neuronal model exhibited a significantly greater response to perturbation in non-periodic （chaotic） firing pattern than in periodic firing pattern. Conelusion The non-periodic firing neurons with deterministic chaos are more sensitive to external stimuli than the periodic firing neurons.

关键词： dorsal root ganglion Hindmarsh-Rose neuronal model spontaneous activity sympathetic stimulation sensitivity chaos

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Changes in macrophage infiltration and podocyte injury in lupus nephritis patients with repeated renal biopsy: Report of three cases

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World Journal of Clinical Cases 2024年第1期12卷 188-195页

作者： Shi-Yuan Liu Hao Chen Li-Jia He Chun-Kai Huang pu Wang Zhang-Ru Rui jue Wu Yang Yuan Yue Zhang Wen-Ju Wang Xiao-Dan Wang Central Laboratory Key Laboratory of Tumor Immunological Prevention and Treatment of Yunnan ProvinceYan'an Hospital Affiliated to Kunming Medical UniversityKunming 650051Yunnan ProvinceChina Department of Nephropathy Yan'an Hospital Affiliated to Kunming Medical UniversityKunming 650051Yunnan ProvinceChina

BACKGROUND In this study,we retrospectively analysed macrophage infiltration and podocyte injury in three patients with diffuse proliferative lupus nephritis(LN)who un-derwent repeated renal *** SUMMARY Clinical data of three diffuse proliferative LN patients with different pathological characteristics(case 1 was LN IV-G(A),case 2 was LN IV-G(A)+V,and case 3 was LN IV-G(A)+thrombotic microangiopathy)were *** patients underwent repeated renal biopsies 6 mo later,and renal biopsy specimens were *** infiltration was assessed by CD68 expression detected by immunohistochemical staining,and an immunofluorescence assay was used to detect podocin expression to assess podocyte *** treatment,Case 1 changed to LN III-(A),Case 2 remained as type V LN lesions,and Case 3,which changed to LN IV-S(A),had the worst *** observed reduced macro-phage infiltration after ***,two of the patients with active lesions after treatment still showed macrophage infiltration in the renal *** treatment,the three patients showed discontinuous expression of ***,the integrity of podocin was restored after treatment in Case *** It may be possible to reverse podocyte damage and decrease the infiltrating ma-crophages in LN patients through effective treatment.

关键词： Lupus nephritis Macrophage Podocyte Repeat renal biopsy Thrombotic microangiopathy Case report

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Urinary levels of nickel and chromium associated with dental restoration by nickel-chromium based alloys

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International Journal of Oral Science 2013年第1期5卷 44-48页

作者： Bo Chen Gang Xia Xin-Ming Cao jue Wang Bi-Yao Xu pu Huang Yue Chen Qing-Wu Jiang School of public Health Key Lab of Public Health Safety of the Ministry of EducationFudan University Shanghai Stomatological Disease Center Department of Epidemiology and Community Medicine University of Ottawa

This paper aims to investigate if the dental restoration of nickel-chromium based alloy(Ni-Cr) leads to the enhanced excretions of Ni and Cr in *** hundred and ninety-five patients in a dental hospital had single or multiple Ni-Cr alloy restoration recently and 198 controls were recruited to collect information on dental restoration by questionnaire and clinical *** concentrations of Ni and Cr from each subject were measure by graphite furnace atomic absorption *** to the control group,the urinary level of Ni was significantly higher in the patient group of < 1 month of the restoration duration,among which higher Ni excretions were found in those with either a higher number of teeth replaced by dental alloys or a higher index of metal crown not covered with the *** levels of Cr were significantly higher in the three patient groups of <1,1 to <3 and 3 to <6 months,especially in those with a higher metal crown exposure *** curve estimations showed better relationships between urinary Ni and Cr in patients within 6-month *** data suggested significant increased excretions of urinary Ni and Cr after dental *** short- and long-term effects of Ni-Cr alloy restoration need to be investigated.

关键词： dental restoration nickel-chromium based alloys population investigation urinary chromium urinary nickel

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Fine mapping and characterization of stripe rust resistance gene YrAYH in near-isogenic lines derived from a cross involving wheat landrace Anyuehong

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The Crop Journal 2024年第3期12卷 826-835页

作者： Li Long jue Li Linyu Huang Huiling Jin Fangnian Guan Haipeng Zhang Sasa Zhao Hao Li Zhien pu Wei Li Qiantao Jiang Yuming Wei Jian Ma Houyang Kang Shoufen Dai Pengfei Qi Qiang Xu Mei Deng Youliang Zheng Yunfeng Jiang Matthew James Moscou Guoyue Chen State Key Laboratory of Crop Gene Exploration and Utilization in Southwest China Sichuan Agricultural UniversityChengdu 611130SichuanChina Triticeae Research Institute Sichuan Agricultural UniversityChengdu 611130SichuanChina College of Resources Sichuan Agricultural UniversityChengdu 611130SichuanChina The Sainsbury Laboratory Norwich Research ParkNorwich NR47UHEnglandUK United States Department of Agriculture-Agricultural Research Service Cereal Disease LaboratorySt.PaulMN 55108USA

Stripe rust,caused by puccinia striiformis ***(Pst),is a devastating disease in wheat *** and characterizing new resistance genes/QTL is crucial for wheat breeding *** this study,we fine-mapped and characterized a stripe rust resistance gene,YRAYH,on chromosome arm 5BL in the Chinese wheat landrace Anyuehong(AYH).Evaluations of stripe rust response to prevalent Chinese Pst races in near-isogenic lines derived from a cross of Anyuehong and Taichung 29 showed that YrAYH conferred a high level of resistance at all growth *** mapping using a large segregating population of 9748 plants,narrowed the YRAYH locus to a 3.7 Mb interval on chromosome arm 5BL that included 61 annotated *** analysis of two NIL pairs identified 64 upregulated differentially expressed genes(DEGs)in the resistant NILs(NILs-R).Annotations indicated that many of these genes have roles in plant disease resistance *** a combined approach of fine-mapping and transcriptome sequencing,we identified a serine/threonine-protein kinase SRPK as a candidate gene underlying YrAYH.A unique 25 bp insertion was identified in the NILs-R compared to the NILs-S and previously published wheat *** InDel marker was developed and co-segregated with *** trait evaluation of the NILs suggested that YrAYH not only reduces the impact of stripe rust but was also associated with a gene that increases plant height and spike length.

关键词： Candidate gene analysis Crop protection puccinia striiformis Transcriptome analyses

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江苏产业教授制的制约因素及对策分析

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中国人力资源开发 2014年第11期31卷 84-88,96页

作者：浦珏石岿然冉勇南京工业大学经济与管理学院江苏省委组织部人才工作处

为大力实施科教与人才强省战略、创新驱动战略,进一步推进产学研合作,2010年江苏省开展了首批产业教授选聘工作,经过三年实践已有百余位产业教授在高校任职。产业教授制是江苏科技人才工作的一项创新举措,是对产学研合作的有益探索,对... 详细信息

为大力实施科教与人才强省战略、创新驱动战略,进一步推进产学研合作,2010年江苏省开展了首批产业教授选聘工作,经过三年实践已有百余位产业教授在高校任职。产业教授制是江苏科技人才工作的一项创新举措,是对产学研合作的有益探索,对于促进校企合作、整合创新资源、加快科研成果向现实生产力转化、推动产业结构优化升级方面具有重要意义,但目前还存在一些制约瓶颈。本文对江苏产业教授机制的实施情况进行调研,总结实践成果,挖掘制约产业教授工作推进的影响要素,并在最后提出了改进江苏产业教授机制的对策建议。

关键词：江苏产业教授制实施情况制约因素对策研究

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平台介入的多物流服务提供商合作模式研究

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中国管理科学 2017年第4期25卷 78-85页

作者：石岿然浦珏孙玉玲南京审计大学金融学院江苏南京211815 南京工业大学经济与管理学院江苏南京211800

电子商务的发展凸显了平台服务和物流服务的重要性。针对供应链服务平台介入的两个功能型物流服务提供商和单个物流服务集成商构成的物流服务供应链,研究了四种合作模式:集中决策、分散决策、物流服务提供商与集成商合作和两物流服务提... 详细信息

电子商务的发展凸显了平台服务和物流服务的重要性。针对供应链服务平台介入的两个功能型物流服务提供商和单个物流服务集成商构成的物流服务供应链,研究了四种合作模式:集中决策、分散决策、物流服务提供商与集成商合作和两物流服务提供商合作。在价格和物流服务水平共同影响市场需求的前提下,通过构建博弈模型,得到了最优服务水平、服务订购价格、服务销售价格以及整条供应链的总利润;进一步应用数值算例考察了单位信息费和服务水平敏感因子对服务价格、市场需求和利润的影响。研究发现:三种合作模型的供应链总利润总大于分散决策下的总利润,集中决策的销售价格甚至比不合作时的批发价格更低,市场总需求大幅提高并保持最优服务水平不变。研究还表明,供应链服务平台在制定单位信息费时应当慎重斟酌,收取过高费用对于整个市场及参与者极为不利,合理的单位信息费有利于整个市场的健康、长期、稳步地发展。研究结果有助于物流服务供应链企业更好地制定管理决策。

关键词：物流服务供应链供应链服务平台合作模式服务水平

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