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Mitochondria replacement from transplanted amniotic fluid stem cells:a promising therapy for non-neuronal defects in spinal muscular atrophy

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Neural Regeneration Research 2024年第5期19卷 971-972页

作者： Michela Pozzobon Camilla Bean Women’s and Children’s Health Department University of Padova Foundation Institute of Pediatric Research Cittàdella Speranza PadovaItaly Department of Medicine University of UdineUdineItaly

Spinal muscular atrophy(SMA)is a genetic disorder that primarily affects infants and leads to muscle weakness,atrophy,and paralysis.The main cause is the homozygous mutation or deletion of the SMN1 gene,resulting in inadequate levels of the survival motor neuron(SMN)protein.Approved treatments focus on restoring SMN levels through various approaches,but there is a need for“SMN-independent”therapies that target other pathological processes.Skeletal muscle is closely involved in SMA pathology,with impaired muscle function observed before motor neuron degeneration.Studies have revealed that SMN loss leads to skeletal muscle mitochondrial structural abnormalities,impaired respiration,and accumulation of reactive oxygen species.

关键词： impaired atrophy muscular

K^(+) channel-mediated retarded maturation of interneurons and its role in neurodevelopmental disorders

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Neural Regeneration Research 2024年第7期19卷 1403-1404页

作者： Kaizhen Li Daria Savitska Olga Garaschuk Laboratory of Systems Neuroscience Department of PhysiologyUniversity of BernBernSwitzerland Institute of Physiology Department of NeurophysiologyEberhard Karls University of TübingenTübingenGermany

De novo mutations in genes encoding K^(+)channels are implicated in many severe neurodevelopmental disorders.Specifically,mutations in KCNA2,encoding the Shaker-type voltage-gated K^(+)channel Kv1.2,and KCNJ2,encoding the inwardly rectifying K^(+)channel Kir2.1,associate with focal and generalized epilepsies,brain atrophy,autism,ataxia and hereditary spastic paraplegia(Syrbe et al.,2015;Masnada et al.,2017;Cheng et al.,2021).

关键词： disorders atrophy

Bilateral iridocorneal endothelial syndrome-Chandler’s syndrome:a case report and literature review

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International Journal of Ophthalmology(English edition) 2024年第4期17卷 773-776页

作者： Xiao-Hua Pan Yu-Fei Tao Ming-Min Yang Xiao-Li Shen Jiao Si Ming Li Ning Fan Shenzhen Eye Hospital Jinan UniversityShenzhen 518040Guangdong ProvinceChina

Dear Editor,I ridocorneal endothelial syndrome(ICE)is a rare ocular disease first proposed by Eagle et al[1]in 1979.It is mainly characterized by corneal endothelial abnormalities,accompanied by iris atrophy,iris pigmented nodules and peripheral anterior synechiae.ICE syndrome is typically unilateral,and classified into three clinical variants based on the changes of the cornea and iris,including progressive iris atrophy,Chandler’s syndrome,and Cogan-Reese syndrome.

关键词： corneal atrophy clinical

Gut microbiota in muscular atrophy development,progression,and treatment:New therapeutic targets and opportunities

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The Innovation 2023年第5期4卷 96-108页

作者： Shujie Chen Puxuan Zhang Huimin Duan Jie Wang Yuyueyang Qiu Zongbin Cui Yulong Yin Dan Wan Liwei Xie State Key Laboratoryof Apied Microbiology Southern China Guangdong Provincial Key Laboratory of Microbial Cuture Clletion and AplicatinGuangdong Open Laboratory ofApplied MicrobiologyInstitute of MicrobiologyGuangdong Academy of SciencesGuangzhou 510070China Department of Endocrinology and Metabolism Zhujiang HospitalSouthern Medical Univer sityGuangzhou 510280China Department of Rehabilitation Medicine Nanfang HospitalSouthern Medical UniversityGuangzhou 100000China School of Public Health Xinxiang Medical UniversityXinxiang 453003China Laboratory of Animal Nutritional Physiology and Metabolic Process Key Laboratory of Agroecological Processes in Subtropical RegionIstitute of Subtropical AgricutureChinese Academy of SciencesChangsha 410125China University of the Chinese Academy of Sciences Beijing 101408China Department of Stomatology Shunde Hospital Southern Medical University(The First People's Hospital of ShundeFoshan)Foshan 528308China Department of Life Sciences Imperial College LondonLondon SW72AZUK Department of Biology Grinnell CollgeGrinellIA 501122USA

Skeletal muscle atrophy is a debilitating condition that significantly affects quality of life and often lacks effective treatment options.Muscle atrophy can have various causes,including myogenic,neurogenic,and other factors.Recent investigation has underscored a compelling link between the gut microbiota and skeletal muscle.Discerning the potential differences in the gut microbiota associated with muscle atrophy-related diseases,understanding their influence on disease development,and recognizing their potential as intervention targets are of paramount importance.This review aims to provide a comprehensive overview of the role of the gut microbiota in muscle atrophy-related diseases.We summarize clinical and pre-clinical studies that investigate the potential for gut microbiota modulation to enhance muscle performance and promote disease recovery.Furthermore,we delve into the intricate interplay between the gut microbiota and muscle atrophy-related diseases,drawing from an array of studies.Emerging evidence suggests significant differences in gut microbiota composition in individuals with muscle atrophy-related diseases compared with healthy individuals.It is conceivable that these alterations in the microbiota contribute to the pathogenesis of these disorders through bacterium-related metabolites or inflammatory signals.

关键词： atrophy diseases alterations

Zinc finger protein ZPR1:promising survival motor neuron protein-dependent modifier for the rescue of spinal muscular atrophy

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Neural Regeneration Research 2022年第10期17卷 2225-2227页

作者： Juliana Cuartas Laxman Gangwani Center of Emphasis in Neurosciences Department of Molecular and Translational MedicinePaul L.Foster School of MedicineTexas Tech University Health Sciences Center El PasoEl PasoTXUSA

neuromuscular disease caused by the homozygous mutation or deletion of the survival motor neuron 1(SMN1)gene.A second copy,SMN2,is similar to SMN1,but produces only~10%SMN protein because of a single-point mutation(C>T)in coding exon 7 causing a splicing defect which leads to the exclusion of exon 7,resulting in a majority(~90%)of transcripts lacking exon 7 that translate into mutant SMN(SMNΔ7)protein.SMA is caused by chronic low levels of SMN and is characterized by the degeneration of the spinal cord motor neurons leading to symmetrical skeletal muscle atrophy,respiratory failure,and death(Ahmad et al.,2012).Chronic low levels of SMN cause the accumulation of pathogenic R-loops and double-stranded breaks(DSBs)in DNA,leading to genomic instability and neurodegeneration in SMA(Kannan et al.,2018).The severity of SMA disease correlates inversely with SMN levels.

关键词： atrophy degeneration Zinc

A case of neurosyphilis with psychosis and hippocampal atrophy

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General Psychiatry 2022年第1期35卷 57-60页

作者： Mohammed Murtza Ayesha Bangash Ajaz-Ur Rehman Amjadali Pervaiz Adeena Imran General Psychiatry South West Yorkshire Partnership NHS Foundation TrustHalifaxUK Old Age Psychiatry South West Yorkshire Partnership NHS Foundation TrustHalifaxUK

Neurosyphilis can mimic many neurological and psychiatric disorders.Though several of its varied central nervous system manifestations can be measured clinically and by neuroimaging,they are non-specific.Thus,this mimicry and the relative rarity of the illness in the present era make the diagnosis elusive.However,neurosyphilis is readily treatable;therefore,it must be considered a diagnostic possibility in the routine workup of early-onset dementia.This case report is of a young man presenting with psychosis and cognitive impairment.His brain scan showed hippocampal atrophy,a finding not often seen in neurosyphilis but more common in Alzheimer’s disease.Without awareness of the various causes of mesiotemporal atrophy,clinicians may erroneously diagnose cases such as this one as a neurodegenerative disorder.

关键词： atrophy routine diagnosis

Germline BRCA2 mutation in a case of aggressive prostate cancer accompanied by spinal bulbar muscular atrophy

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Asian Journal of Andrology 2022年第1期24卷 116-118页

作者： Hiroshi Hongo Takeo Kosaka Hideyuki Hayashi Kohei Nakamura Hiroshi Nishihara Shuji Mikami Himisha Beltran Mototsugu Oya Department of Urology Keio University School of Medicine35 ShinanomachiShinjuku-kuTokyo 160-8582Japan Genomics Unit Keio Cancer CenterKeio University School of Medicine35 ShinanomachiShinjuku-kuTokyo 160-8582Japan Division of Diagnostic Pathology Keio University Hospital35 ShinanomachiShinjuku-kuTokyo 160-8582Japan Department of Medical Oncology Dana-Farber Cancer Institute450 Brookline AvenueBostonMA 02215USA

Dear Editor,Spinal and bulbar muscular atrophy(SBMA)or Kennedy’s disease is a rare X-linked,recessive,lower motor neuron disease caused by a CAG repeat expansion within the first exon of the androgen receptor(AR)gene.Instability of the CAG-triplet repeat impacts AR function;therefore,men with SBMA are thought to be at a very low risk of prostate cancer.We previously reported a case of high-risk prostate cancer with SBMA(repeat length 46).

关键词： atrophy muscular cancer

Role of the ultra-wide-field imaging system in the diagnosis of pigmented paravenous chorioretinal atrophy

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International Journal of Ophthalmology(English edition) 2022年第11期15卷 1878-1880页

作者： Ya-Ling Liu Ya-Rou Hu Miao-Hong Chen Zhen Yu Guo-Ming Zhang Shenzhen Eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina Department of ophthalmology the Second Clinical Medical College of Jinan UniversityGuangzhou 510632Guangdong ProvinceChina

Dear Editor,P igmented paravenous chorioretinal atrophy(PPCRA), which was first described by Hewiston-Brown in 1937, is a rare pigmentary retinopathy affecting the retina and choroid;most patients mainly manifest symm... 详细信息

关键词： atrophy diagnosis venous

Three siblings with gyrate atrophy of the choroid and retina:a case report

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International Journal of Ophthalmology(English edition) 2023年第12期16卷 2133-2135页

作者： Maamouri Rym Ferchichi Molka Ben Chehida Amel Hadj-Taieb Sameh Cheour Monia Department of Ophthalmology Habib Thameur HospitalTunis 1069Tunisia Department of Pediatrics Rabta HospitalTunis 1007Tunisia Laboratory of Biochemistry Rabta HospitalTunis 1007Tunisia University of Tunis El Manar Faculty of Medicine of Tunis 1068Tunisia

Dear Editor,We report the cases of three siblings with gyrate atrophy(GA)of the choroid and retina with foveoschisis,anterior subcapsular cataracts,and capsular bag contraction.GA is a rare autosomal recessive degenerative disorder of the choroid and retina.About one-third of all reported cases are from Finland where the incidence is estimated to be around 1:50000 whereas the theoretical global incidence is only 1:1500000[1].

关键词： atrophy cases cataract