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Association of variants in the KIF1A gene with amyotrophic lateral sclerosis

Translational Neurodegeneration 2022年第1期11卷 235-247页

作者： Panlin Liao Yanchun Yuan Zhen Liu Xiaorong Hou Wanzhen Li Jin Wen Kexuan Zhang Bin Jiao Lu Shen Hong Jiang Jifeng Guo Beisha Tang Zhuohua Zhang Zhonghua Hu Junling Wang Hunan Key Laboratory of Molecular Precision Medicine Department of Critical Care MedicineXiangya HospitalCentral South UniversityChangsha 410008China Department of Neurology Xiangya HospitalCentral South UniversityChangsha 410008China National Clinical Research Center for Geriatric Diseases Xiangya HospitalCentral South UniversityChangsha 410008China Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South UniversityChangsha 410008China Center for Medical Genetics School of Life SciencesCentral South UniversityChangsha 410008China Engineering Research Center of Hunan Province in Cognitive Impairment Disorders Central South UniversityChangsha 410008China Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases Changsha 410008China Hunan Provincial Clinical Research Center for Critical Care Medicine Xiangya HospitalCentral South UniversityChangsha 410008China Hunan Key Laboratory of Animal Models for Human Diseases School of Life SciencesCentral South UniversityChangsha 410008China.

Background:Amyotrophic lateral sclerosis(ALS)is a devastating progressive neurodegenerative disease that affects neurons in the central nervous system and the spinal *** in many other neurodegenerative disorders,the genetic risk factors and pathogenesis of ALS involve dysregulation of cytoskeleton and neuronal ***,sen-sory and motor neuron diseases such as hereditary sensory and autonomic neuropathy type 2(HSAN2)and spastic paraplegia 30(SPG30)share several causative genes with ALS,as well as having common clinical ***1A encodes a kinesin 3 motor that transports presynaptic vesicle precursors(SVPs)and dense core vesicles and has been reported as a causative gene for HSAN2 and ***:Here,we analyzed whole-exome sequencing data from 941 patients with ALS to investigate the genetic association of KIF1A with ***:We identified rare damage variants(RDVs)in the KIF1A gene associated with ALS and delineated the clini-cal characteristics of ALS patients with KIF1A ***,these patients tended to exhibit sensory ***,the majority of these variants are located at the C-terminal cargo-binding region of the KIF1A *** examination revealed that the ALS-associated KIF1A variants located in the C-terminal region preferentially enhanced the binding of SVPs containing RAB3A,VAMP2,and *** of several disease-related KIF1A mutants in cultured mouse cortical neurons led to enhanced colocalization of RAB3A or VAMP2 with the KIF1A ***:Our study highlighted the importance of KIF1A motor-mediated transport in the pathogenesis of ALS,indicating KIF1A as an important player in the oligogenic scenario of ALS.

关键词： Amyotrophic lateral sclerosis KIF1A Axonal transport Presynaptic vesicle precursors

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Local delivery of EGFR+NSCs-derived exosomes promotes neural regeneration post spinal cord injury via miR-34a-5p/HDAC6 pathway

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Bioactive Materials 2024年第3期33卷 424-443页

作者： Tian Qin Chengjun Li Yan Xu Yiming Qin Yuxin Jin Rundong He Zixiang Luo Jinyun Zhao Chunyue Duan Hongbin Lu Yong Cao Jianzhong Hu Department of Spine Surgery and Orthopaedics Xiangya HospitalCentral South UniversityXiangya Road 87Changsha410008China Key Laboratory of Organ Injury Aging and Regenerative Medicine of Hunan ProvinceXiangya Road 87Changsha410008China National Clinical Research Center for Geriatric Disorders Xiangya HospitalCentral South UniversityXiangya Road 87Changsha410008China Department of Sports Medicine Xiangya HospitalCentral South UniversityXiangya Road 87Changsha410008China

Spinal cord injury(SCI)causes severe axon damage,usually leading to permanent paraparesis,which still lacks effective regenerative *** studies have suggested that exosomes derived from neural stem cells(NSCs)may hold promise as attractive candidates for SCI *** Growth Factor Receptor positive NSC(EGFR+NSC)is a subpopulation of endogenous NSCs,showing strong regenerative capability in central nervous system *** the current study,we isolated exosomes from the EGFR+NSCs(EGFR+NSCs-Exos)and discovered that local delivery of EGFR+NSCs-Exos can effectively promote neurite regrowth in the injury site of spinal cord-injured mice and improve their neurological function *** the miRNA-seq,we firstly characterized the microRNAs(miRNAs)cargo of EGFR+NSCs-Exos and identified miR-34a-5p which was highly enriched in EGFR+NSCs derived *** further interpreted that exosomal miR-34a-5p could be transferred to neurons and inhibit the HDAC6 expression by directly binding to its mRNA,contributing to microtubule stabilization and autophagy induction for aiding SCI ***,our research demonstrated a novel therapeutic approach to improving neurological functional recovery by using exosomes secreted from a subpopulation of endogenous NSCs and providing a precise cell-free treatment strategy for SCI repair.

关键词： Spinal cord injury Exosomes Neural regeneration miR-34a-5p HDAC6

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Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature

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World Journal of Clinical Cases 2019年第11期7卷 1358-1366页

作者： Xue-Wen Xiao Juan Du Bin Jiao Xin-Xin Liao Lu Zhou Xi-Xi Liu Zhen-Hua Yuan Li-Na Guo Xin Wang Lu Shen Zhang-Yuan Lin Department of Neurology Xiangya Hospital Central South University Changsha 410008 Hunan Province China National Clinical Research Center for Geriatric Disorders Xiangya Hospital Central South University Changsha 410008 Hunan Province China Key Laboratory of Hunan Province in Neurodegenerative Disorders Central South University Changsha 410008 Hunan Province China Department of Geriatrics Neurology Xiangya Hospital Central South University Changsha 410008 Hunan Province China Key Laboratory of Organ Injury Aging and Regenerative Medicine of Hunan Province Changsha 410008 Hunan Province China Department of Orthopedics Xiangya Hospital Central South University Changsha 410008 Hunan Province China

BACKGROUND Hereditary spastic paraplegias (HSPs) refer to a group of heterogeneous neurodegenerative diseases characterized by lower limbs spasticity and weakness. So far, over 72 genes have been found to cause HSP (SPG1-SPG72). Among autosomal dominant HSP patients, spastic paraplegia 4 (SPG4/SPAST) gene is the most common pathogenic gene, and atlastin-1 (ATL1) is the second most common one. Here we reported a novel ATL1 mutation in a Chinese spastic paraplegia 3A (SPG3A) family, which expands the clinical and genetic spectrum of ATL1 mutations. CASE SUMMARY A 9-year-old boy with progressive spastic paraplegia accompanied by right hearing loss and mental retardation for five years was admitted to our *** history was unremarkable. The family history was positive, and his grandfather and mother had similar symptoms. Neurological examinations revealed hypermyotonia in his lower limbs, hyperreflexia in knee reflex, bilateral positive Babinski signs and scissors gait. The results of blood routine test, liver function test, blood glucose test, ceruloplasmin test and vitamin test were all normal. The serum lactic acid level was significantly increased. The testing for brainstem auditory evoked potential demonstrated that the right side hearing was impaired while the left was normal. Magnetic resonance imaging showed mild atrophy of the spinal cord. The gene panel test revealed that the proband carried an ATL1 c.752A>G ***251Arg (p.Q251R) mutation, and Sanger sequencing confirmed the existence of family co-segregation. CONCLUSION We reported a novel ATL1 Q251R mutation and a novel clinical phenotype of hearing loss in a Chinese SPG3A family.

关键词： Hereditary spastic paraplegia SPG3A Atlastin-1 (ATL1) gene Hearing loss Case report

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Venoarterial extracorporeal membrane oxygenation for refractory cardiogenic shock induced by adrenal lesions:a case report and review of the literature

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World Journal of Emergency Medicine 2023年第4期14卷 325-328页

作者： Liping Zhou Xiaoye Mo Guoqing Huang Ping Wu Changshou She Shanshan Hu Ben Liu Zhen Zhao Ning Yang Department of Emergency Medicine Xiangya HospitalCentral South UniversityChangsha 410008China

The adrenal gland secretes a variety of hormones that regulate physiological functions,and adrenal lesions can lead to insidious or sudden onset diseases that are easily ***,several young patients with unknown sudden and refractory cardiogenic shock or cardiac arrest(CA)were successfully treated in our emergency department by the application of venoarterial extracorporeal membrane oxygenation(VA-ECMO).These life-threatening conditions were finally determined to be caused by adrenal lesions,which highlight the bridging role of VA-ECMO.[1]

关键词： adrenal lesions arterial

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Acupuncture for cerebral ischemia/reperfusion injury Does it reduce the inflammatory reaction?

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Neural Regeneration Research 2010年第14期5卷 1055-1060页

作者： Zhenyan Li Guangwei Zhong Sujuan Huang Yunsheng Liu Sue Wang Wei Li Department of Neurosurgery Xiangya Hospital Central South University Changsha 410008 Hunan Province China Institute of Integrated Traditional and Westem Medicine Xiangya Hospital Central South University Changsha 410008 Hunan Province China Operating Room Xiangya Hospital Central South University Changsha 410008 Hunan Province China

BACKGROUND： Nuclear factor-κB （NF-κB）, intercellular adhesion molecule-1 （ICAM-1）, and vascular cell adhesion molecule-1 （VCAM-1） in brain tissue can participate in inflammatory reactions after cerebral ischemia. Acupuncture treatment for acute cerebral ischemia produces abnormal protein expression. OBJECTIVE： To investigate the effects of acupuncture on NF-KB, ICAM-1, and VCAM-1 mRNA and protein expression in the brain tissue of rats with cerebral ischemiaJreperfUsion injury. DESIGN, TIME AND SETTING： Randomized, controlled, animal experiments were performed at the Laboratory of Department of Neurosurgery, Xiangya Hospital, Central South University, China between December 2008 and October 2009. MATERIALS： Rabbit anti-NF-KB polyclonal antibody, rabbit anti-ICAM-1 polyclonal antibody, and rabbit anti-VCAM-1 polyclonal antibody were purchased from Santa Cruz Biotechnology, USA. METHODS： A total of 46 healthy, Sprague Dawley rats were randomly assigned to sham surgery （n= 10）, model （n = 12）, acupuncture pretreatment （n = 12）, and acupuncture intervention （n = 12） groups. Models of middle cerebral artery occlusion were established by right common carotid artery ligation. In the acupuncture pretreatment group, rats received acupuncture for 3 consecutive days, and then models were established. In the acupuncture intervention group, rats received acupuncture for 3 consecutive days at Waiguan （SJ 5）, Sanyinjiao （SP 6）, and Dazhui （DU 14） acupoints following model establishment. MAIN OUTCOME MEASURES： Somatosensory asymmetry and forelimb use asymmetry were tested, as well as NF-KB, ICAM-1, and VCAM-1 mRNA and protein expression in the frontal and parietal cortex at 4, 12, 24, 48 and 72 hours following cerebral ischemia/reperfusion injury. RESULTS： Acupuncture improved neurological function and significantly decreased NF-KB, ICAM-1, and VCAM-1 mRNA and protein expression in the frontal and parietal cortex of rats with cerebral ischemia/reperfusion injury （P 〈 0.05）. CONCLUSI

关键词： cerebral ischemia/reperfusion nuclear factor-κB, intercellular adhesion molecule-1 vascular cell adhesion molecule-1 acupuncture traditional Chinese medicine neural regeneration

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Retinoic acid metabolic change in retina and choroid of the guinea pig with lens-induced myopia

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International Journal of Ophthalmology(English edition) 2012年第6期5卷 670-674页

作者： Jun-Feng Mao Shuang-Zhen Liu Xiu-Qiong Dou Department of Ophthalmology Xiangya Hospital of Central South University Changsha 410008

AIM: To investigate the role of retinoic add (RA) and retinaldehyde dehydrogenase-2 (RALDH(2)) of retina and choroid in the guinea pig lens-induced myopic eyes. METHODS: Totally 45 guinea pigs, at age of three weeks, were randomly assigned into three groups: the normal control, the lens-induced group and the recovering group. Out of focus was induced by the -6.00D concave lens on the left eye, and lasted for 15 days. All animals underwent biometric measurement (corneal radius of curvature, refraction and axial length). Subsequently, RA content in the retina and RPE/choriod complex was detected by reversed-phase high-performance liquid chromatography. RALDH(2) protein in the retina and RPE/choriod complex was evaluated by the immunohistochemical staining and Western blotting. RESULTS: After wearing -6.00D lens for 15 days, axial length of the lens-induced eye extends and myopia was formed, with RA contents increasing in both the neural retina and RPE/choroid complex. Comparing with the lens-induced group, myopic degree significantly relieved, and its RA contents in both the neural retina and RPE/choroid complex decreased in the recovering group. In the normal control, RALDH(2) protein was expressed positively in the retinal nerve fiber layer (RNFL), inner plexiform layer (IPL) and lateral border of outer nuclear layer (ONL). Retinal RALDH(2) protein increased in the lens-induced group, and was also positive in the outer plexiform layer (OPL). In the recovering group, retinal RALDH(2) protein attenuated the expression in the OPL turns to negative. RALDH(2) protein was not expressed in the choroid of any group. CONCLUSION: RA of retina and chorid participates in the regulation of the lens-induced myopia in guinea pigs, which may be related with retinal RALDH(2) protein.

关键词： retinoic acid lens-induced myopia retinaldehyde dehydrogenase-2 guinea pig

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Ferroptosis in cancer: From molecular mechanisms to therapeutic strategies

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Signal Transduction and Targeted Therapy 2024年第4期9卷 1359-1388页

作者： Qian Zhou Yu Meng Daishi Li Lei Yao Jiayuan Le Yihuang Liu Yuming Sun Furong Zeng Xiang Chen Guangtong Deng Department of Dermatology Xiangya HospitalCentral South University87 Xiangya RoadChangsha 410008 Hunan ProvinceChina National Engineering Research Center of Personalized Diagnostic and Therapeutic Technology 87 Xiangya RoadChangsha 410008 Hunan ProvinceChina Furong Laboratory 87 Xiangya RoadChangsha 410008 Hunan ProvinceChina Hunan Key Laboratory of Skin Cancer and Psoriasis Hunan Engineering Research Center of Skin Health and DiseaseXiangya HospitalCentral South University87 Xiangya RoadChangsha 410008 Hunan ProvinceChina National Clinical Research Center for Geriatric Disorders Xiangya Hospital87 Xiangya RoadChangsha 410008 Hunan ProvinceChina Department of General Surgery Xiangya HospitalCentral South University87 Xiangya RoadChangsha 410008 Hunan ProvinceChina Department of Plastic and Cosmetic Surgery Xiangya HospitalCentral South University87 Xiangya RoadChangsha 410008 Hunan ProvinceChina Department of Oncology Xiangya HospitalCentral South University87Xiangya RoadChangsha 410008Hunan ProvinceChina

Ferroptosis is a non-apoptotic form of regulated cell death characterized by the lethal accumulation of iron-dependent membranelocalized lipid *** acts as an innate tumor suppressor mechanism and participates in the biological processes of ***,mesenchymal and dedifferentiated cancer cells,which are usually resistant to apoptosis and traditional therapies,are exquisitely vulnerable to ferroptosis,further underscoring its potential as a treatment approach for cancers,especially for refractory ***,the impact of ferroptosis on cancer extends beyond its direct cytotoxic effect on tumor *** induction not only inhibits cancer but also promotes cancer development due to its potential negative impact on anticancer ***,a comprehensive understanding of the role of ferroptosis in cancer is crucial for the successful translation of ferroptosis therapy from the laboratory to clinical *** this review,we provide an overview of the recent advancements in understanding ferroptosis in cancer,covering molecular mechanisms,biological functions,regulatory pathways,and interactions with the tumor *** also summarize the potential applications of ferroptosis induction in immunotherapy,radiotherapy,and systemic therapy,as well as ferroptosis inhibition for cancer treatment in various *** finally discuss ferroptosis markers,the current challenges and future directions of ferroptosis in the treatment of cancer.

关键词： cancer mechanisms treatment

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Muscular involvement of extranodal natural killer/T cell lymphoma misdiagnosed as polymyositis: A case report and review of literature

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World Journal of Clinical Cases 2020年第5期8卷 963-970页

作者： Li-Hui Liu Qing Huang Yun-Hai Liu Jie Yang Han Fu Lin Jin Department of Neurology Xiangya Hospital of Central South UniversityChangsha 410008Hunan ProvinceChina Department of Geriatrics Stroke Center Cerebrovascular disease clinical research center of Hunan provinceChangsha 410008Hunan ProvinceChina Department of Dermatology Xiangya Hospital of Central South UniversityChangsha 410008Hunan ProvinceChina

BACKGROUND Natural killer(NK)/T cell lymphoma is a rare and highly aggressive malignant tumor,and is a special form of non-Hodgkin's *** extranodal involvement is frequently found in tissues such as the skin,testicular and gastrointestinal tract etc,its presence in skeletal muscle has scarcely been reported in the *** SUMMARY We report a case of extranodal NK/T cell lymphoma with muscle swelling as the first clinical manifestation.A 42-year-old man,who initially presented with localized swelling in the double lower extremities,demonstrated gradual facial and eyelid swelling,and his imaging results showed multiple sites of muscle damage throughout the *** final pathological results suggested NK/T cell lymphoma,and immunohistochemistry showed CD20(-),CD3(+),CD30(+),CD56(-),EBER(+),Ki67(60%),TIA-1(+)and CD68(±)*** muscle swelling significantly improved after treatment with chemotherapy *** This disease is difficult to diagnose and highly invasive,and should be included in the differential diagnosis of unexplained muscle swelling.

关键词： Lymphoma Extranodal natural killer/T cell lymphoma Muscular Polymyositis Muscle swelling Case report

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Reconstruction of complex orbital fracture with titanium implants

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International Journal of Ophthalmology(English edition) 2012年第4期5卷 488-492页

作者： Wen-Shu Yi, Xin-Rong Ou Department of Ophthalmology Xiangya Hospital Central South University Changsha 410008 Hunan Province China Department of Neurologic Xiangya Hospital Central South University Changsha 410008 Hunan Province China Department of Oral and Maxillofacial Xiangya Hospital Central South University Changsha 410008 Hunan Province China

AIM: To evaluate the effectiveness and safety of complex orbital fracture reconstruction with titanium implants. METHODS: A retrospective review of 46 patients treated with complex orbital fractures reconstruction using titanium implants from January 2005 to December 2008 was conducted. The following data were recorded: age, gender, mechanism of injury, preoperative and postoperative orbital CT, visual acuity, diplopia, ocular motility and Hertel exophthalmometer. RESULTS: The most common cause was motor vehicle accident (47.8%), followed by industrial injury (30.4%). All patients had improved appearance after operation and CT scan at one week after operation showed the fracture defects of orbit and neighboring areas had been reconstructed. Forty-six cases had various degrees of enophthalmos before operation. Among them, 32 cases were completely corrected, 11 cases improved obviously and 3 cases had no improvement after operation. Thirty-six patients with visual acuity =20/60 revealed diplopia of various degrees, including 26 patients had diplopia in right ahead and/or reading positions. At the sixth month after operation, diplopia disappeared in five patients, 7 patients still had diplopia in right ahead and/or reading positions, 14 patients had diplopia in positions rather than right ahead and reading positions (20 degrees). All patients had various degrees of ocular motility disorders before operation. At the sixth month after operation, eyeball movement disorder disappeared in 9 patients, 31 patients showed improvement and 6 patients had no improvement. Complications of implant infection, rejection and displacement were not reported after operation. CONCLUSION: The application of titanium implants in the repair of complex orbital fractures greatly improves the appearance and functional results, which is a favorable material for plastic surgery of complex orbital fracture.

关键词： complex orbital fractures titanium reconstruction

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Uniform Granular Pigmentation as a Novel Dermoscopic Feature of Drug Reaction:A Cross-Sectional Study

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International Journal of Dermatology and Venereology 2024年第4期7卷 199-204页

作者： Li-Xia Lu Shuang Zhao Ming-Liang Chen Xiang Chen Juan Su Department of Dermatology Xiangya HospitalCentral South UniversityChangshaHunan 410008China National Engineering Research Center of Personalized Diagnostic and Therapeutic Technology ChangshaHunan 410008China Hunan Key Laboratory of Skin Cancer and Psoriasis Xiangya HospitalCentral South UniversityChangshaHunan 410008China Hunan Engineering Research Center of Skin Health and Disease ChangshaHunan 410008China National Clinical Research Center for Geriatric Disorders Xiangya HospitalChangshaHunan 410008China

Objective:In clinical practice,black-brown-gray pigment granules are common under ***,little is known about their clinical *** conducted this study to investigate the relationship between dermoscopy features and their representative pathological ***:A cross-sectional study was conducted by searching clinical database in Xiangya Hospital,Central South University,from August 2017 to August *** with full information on pigment granules and demographic and pathological findings were *** were reviewed for information regarding pathological and dermoscopic *** exact test was used to examine the correlation between individual histologic variables and established *** depth of pigment granules showed a nonnormal distribution and was analyzed using a nonparametric ***:In total,data from 83 patients were included in this *** presence of pigment granules under dermoscopy significantly indicated destruction of basal cells or pigment incontinence(91.5%,76/83).The pigment granules within lesions were divided into uniform and nonuniform patterns with respect to their size,color,and *** granular pigmentation was more likely to be associated with eosinophils(numerous or in aggregates,P<0.001)or perifollicular inflammatory infiltration in the dermis(P=0.008).Notably,brown pigment granules(P=0.024)and uniform granular pigmentation(P<0.001)were more likely to be induced by ***:Uniform granular pigmentation under dermoscopy is a novel indicator of a drug reaction and necessitates a detailed inquiry.

关键词： uniform granular pigmentation pigment granules drug reaction dermoscopy

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