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Treadmill exercise exerts a synergistic effect with bone marrow mesenchymal stem cell-derived exosomes on neuronal apoptosis and synaptic-axonal remodeling

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Neural Regeneration Research 2023年第6期18卷 1293-1299页

作者： Xin-Hong Jiang Hang-Feng Li Man-Li Chen Yi-Xian Zhang Hong-Bin Chen Rong-Hua Chen Ying-Chun Xiao Nan Liu Department of Rehabilitation Fujian Medical University Union HospitalFuzhouFujian ProvinceChina fujian Institute of Cerebrovascular Disease FuzhouFujian ProvinceChina key laboratory of Brain Aging and Neurodegenerative Diseases Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouFujian ProvinceChina Department of neurology Longyan First Hospital of Fujian Medical UniversityLongyanFujian ProvinceChina Department of neurology Fujian Medical University Union HospitalFuzhouFujian ProvinceChina

Treadmill exercise and mesenchymal stem cell transplantation are both practical and effective methods for the treatment of cerebral ischemia.However,whether there is a synergistic effect between the two remains unclear.In this study,we established rat models of ischemia/reperfusion injury by occlusion of the middle cerebral artery for 2 hours and reperfusion for 24 hours.Rat models were perfused with bone marrow mesenchymal stem cell-derived exosomes(MSC-exos)via the tail vein and underwent 14 successive days of treadmill exercise.Neurological assessment,histopathology,and immunohistochemistry results revealed decreased neuronal apoptosis and cerebral infarct volume,evident synaptic formation and axonal regeneration,and remarkably recovered neurological function in rats subjected to treadmill exercise and MSC-exos treatment.These effects were superior to those in rats subjected to treadmill exercise or MSC-exos treatment alone.Mechanistically,further investigation revealed that the activation of JNK1/c-Jun signaling pathways regulated neuronal apoptosis and synaptic-axonal remodeling.These findings suggest that treadmill exercise may exhibit a synergistic effect with MSC-exos treatment,which may be related to activation of the JNK1/c-Jun signaling pathway.This study provides novel theoretical evidence for the clinical application of treadmill exercise combined with MSC-exos treatment for ischemic cerebrovascular disease.

关键词： apoptosis axonal regeneration c-Jun exosomes functional remodeling ischemic stroke JNK1 mesenchymal stem cells synaptic formation treadmill exercise

Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation

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Chinese Medical Journal 2023年第17期136卷 2110-2112页

作者： Haoling Cheng Dianfu Chen Zhiying Wu Ning Wang Department of neurology First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350005China Department of neurology and Research Center of neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhouZhejiang 310000China Fujian Key Laboratory of Molecular Neurology Fujian Medical UniversityFuzhouFujian 350005China

To the Editor:Cockayne syndrome(CS;Mendelian Inheritance in Man#133540,216400)is a rare autosomal recessive neurodegenerative disorder described by Edward Cockayne in 1936.[1]The prevalence of CS is 2.7 per million live births,[2]and the disease is probably underdiagnosed.The major clinical features are progressive growth failure and microcephaly as well as other characteristics such as a“cachectic dwarfism”appearance with sunken eyes,cutaneous photosensitivity,mental retardation,demyelinating peripheral neuropathy,pigmentary retinopathy,cataracts,deafness,dental anomalies,and premature death.[1,3]There is considerable variation in the severity of the disorder,leading to classification into three main types.

关键词： dwarf analysis retardation

A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2

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Chinese Medical Journal 2021年第22期134卷 2753-2755页

作者： Liang-Liang Qiu Xiao-Dan Lin Guo-Rong Xu Li-Li Wang Zhi-Xian Ye Feng Lin Hai-Zhu Chen Min-Ting Lin Nai-Qing Cai Ming Jin Liu-Qing Xu Wei Hu Ning Wang Zhi-Qiang Wang Department of neurology Institute of NeurologyThe First Affiliated HospitalFujian Medical UniversityFuzhouFujian 350005China Fujian Key Laboratory of Molecular Neurology FuzhouFujian 350005China

To the Editor:Facioscapulohumeral muscular dystrophy type 2(FSHD2)is an epigenetic myopathy caused by variants in genes encoding chromatin regulators,such as SMCHD1:these variants lead to derepression of the D4Z4-encoded DUX4 retrogene in skeletal muscle.[1]The core phenotype of FSHD is progressive muscle weakness in such body parts as the face,shoulder girdle,and upper limbs.Additionally,FSHD may affect the axial muscles and produce bent spine syndrome.Several studies have reported that FSHD2 is associated with causative variants in SMCHD1,[1,2]but to the best of our knowledge,no Chinese FSHD2 patient has been reported.In this report,we presented a Chinese FSHD2 family with D4Z4 hypomethylation and identified a novel start codon variant(c.1 A>G)in SMCHD1.This study was approved by the Ethics Committee for Medical Research of the First Affiliated Hospital of fujian Medical University(No.2016[17]).Informed consent was obtained from each partici-pant and parent of the participant younger than 18 years of age.

关键词： dystrophy muscular younger

A ＂Triple Trouble＂ Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy

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Chinese Medical Journal 2018年第18期131卷 2164-2171页

作者： Xiao-Dan Lin Jun-Jie He Feng Lin Hai-Zhu Chen Liu-Qing Xu Wei Hu Nai-Qing Cai Min-Ting Lin Ning Wang Zhi-Qiang Wang Guo-Rong Xu Department of neurology and Institute of neurology First Affiliated Hospital Fujian Medical University Fuzhou Fujian 350005 China Fujian Key Laboratory of Molecular Neurology Fuzhou Fujian 350005 China

Background： Facioscapulohumeral muscular dystrophy （FSHD） is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a ＂complex disease plus＂ patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy. Methods： Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification （MLPA）, whole exome sequencing （WES）, and targeted methylation sequencing. Results： The patient presented with mild facial weakness, humeral poly-hill sign, scapular winging, peroneal weakness, drop foot, pes cavus, and myoclonic epilepsy. Furthermore, electrophysiology revealed severely demyelinated and axonal injury. The muscle and nerve biopsy revealed broadly fiber Type II grouping atrophy and myelinated nerve fibers that significantly decreased with thin myelinated fibers and onion bulbs changes. Generalized sharp and sharp-slow wave complexes on electroencephalography support the diagnosis toward myoclonic epilepsy. In addition, molecular testing demonstrated a co-segregated 20-kb 4q35-EcoRI fragment and permissive allele A, which corresponded with D4Z4 hypomethylation status in the family. Both the patient＇s mother and brother only presented the typical FSHD but lacked overlapping syndromes. However, no mutations for hereditary peripheral neuropathy and myoclonic epilepsy were discovered by MLPA and WES. Conclusions： The present study described a ＂tripe trouble＂ with FSHD, peripheral neuropathy, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype. It would provide a direct clue on medical care and genetic counseling.

关键词： Facioscapulohumeral Muscular Dystrophy Myoclonic Epilepsy Overlapping Syndromes Peripheral Neuropathy TripleTrouble

Dysferlinopathy in a cohort of Chinese patients:clinical features,mutation spectrum,and imaging findings

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Chinese Medical Journal 2021年第5期134卷 622-624页

作者： Qi-Fu Guo Zhi-Xian Ye Liang-Liang Qiu Xin Lin Jia-He Lai Min-Ting Lin Zhi-Qiang Wang Ning Wang Feng Lin Department of neurology and Institute of neurology The First Affiliated Hospital of Fujian Medical UniversityFuzhouFujian 350005China Fujian Key Laboratory of Molecular Neurology FuzhouFujian 350005China.

To the Editor:Mutations in the dysferlin(DYSF)gene lead to dysferlinopathy,which is referred to as a group of muscular dystrophies with autosomal recessive inheri-tance.Dysferlinopathy includes Miyoshi myopathy(MM),limb-girdle muscular dystrophy(LGMD2B),and other atypical phenotypes,such as the“proximo-distal(PD)”phenotype and distal anterior compartment myopathy.Currently.the genotype-phenotype correlation in the majority of patients remains unclear.

关键词： patients muscular dystrophy

In vivo calcium imaging and Parkinson's disease

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Science China(Life Sciences) 2016年第12期59卷 1338-1340页

作者： Tianwen Huang Qinyong Ye Department of neurology Fujian Institute of Geriatrics Fujian Medical University Union Hospital key laboratory of Brain Aging and Neurodegenerative Diseases Fujian Key Laboratory of Molecular NeurologyFujian Medical University

Brain function depends on patterns of synaptic input and neurocircuits,which are accompanied by transient changes in free intracellular calcium concentration(Resendez et al.,2015).A recent topic of interest has been the illumination of neuronal circuit activity by calcium imaging in vivo.As a new biological tool for recording behavioral signals in the animal brain,in vivo calcium imaging is performed to monitor neuronal activity based on intracellular calcium.In

关键词： MSNs DBS

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure

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Chinese Medical Journal 2018年第13期131卷 1575-1583页

作者： Jin He Han Lin Jin-Jing Li Hui-Zhen Su Dan-Ni Wang Yu Lin Ning Wang Wan-Jin Chen Department of neurology and Institute of neurology First Affiliated Hospital Fujian Medical University Fuzhou Fujian 350005 China Fujian Key Laboratory of Molecular Neurology Fujian Medical University Fuzhou Fujian 350005 Ohina

Background： Progressive myoclonus epilepsies （PMEs） conaprise a group of rare genetic disorders characterized by action rnyoclonus, epileptic seizures, and ataxia with progressive neurologic decline. Due to clinical and genetic heterogeneity of PMEs, it is difficult to decide which genes are affected. The aim of this study was to report an action myoclonus with or without renal failure syndrome （EPM4） fhmily and summarize the clinical and genetic characteristics of all reported EPM4 patients. Meihods： In the present study, targeted next-generation sequencing （NGS） was applied to screen causative genes in a Chinese PME family. The candidaie variant was further confirmed by cosegregation analysis and further functional analysis, including the reverse transcription polymerase chain reaction and Western blot of the proband＇s muscle. Moreovel, literature data on the clinical and mutational features of all reported EPM4 patients were reviewed. Results： The gene analysis revealed a novel homozygous splicing mutation （c.995-1G〉A） of the SCARB2 gene in two brothers. Further functional analysis revealed that this mutation led to loss function of the SCARB2 protein. The classification of the candidate variant, according to the American College of Medical Genetics and Genomics standards and guidelines and functional analysis, was pathogenic. Therefore, these two brothers were finally diagnostically confirmed as EPM4. Conclusions： These present results suggest the potential for targeted NGS to conduct a more rapid and precise diagnosis for PME patients. A literature review revealed that mutations in the different functional domains of SCARB2 appear to be associated with the phenotype of EPM4.

关键词： Progressive Myoclonus Epilepsies Progressive Myoclonus Epilepsy with or without Renal Failure SCARB2 Gene Targeted Next-Generation Sequencing

Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency

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Chinese Medical Journal 2019年第13期132卷 1615-1618页

作者： Hai-Zhu Chen Ming Jin Nai-Qing Cai Xiao-Dan Lin Xin-Yi Liu Liu-Qing Xu Min-Ting Lin Feng Lin Ning Wang Zhi-Qiang Wang Guo-Rong Xu Department of neurology and Institute of neurology The First Affiliated Hospital of Fujian Medical UniversityFuzhouFujian 350005China Fujian Key Laboratory of Molecular Neurology FuzhouFujian 350005China

To the Editor:Late-onset multiple acyl-CoA dehydrogenase deficiency(MADD)is clinically characterized by a fluctuating or progressive proximal myopathy,exercise intolerance but good responsive to riboflavin.ETFDH mutations are a major cause of late-onset MADD.We analyzed the clinical course,biochemical studies,and muscle magnetic resonance imaging(MRI)and pathologies of two late-onset MADD adult male patients who were misdiagnosed as polymyositis and presented with serious clinical symptoms of rhabdomyolysis and respiratory insufficient after using large dosage of intravenous glucocorticoids.Our current report broadens the clinical phenotypes spectrum of MADD and reminds clinicians to be cautious about using large dosage glucocorticoids in metabolic compromised patients.

关键词： Rhabdomyolysis respiratory insufficiency dosage of intravenous

Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations

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Chinese Medical Journal 2016年第12期129卷 1425-1431页

作者： Xin-Yi Liu Ming Jin Dan-Ni Wang Jun-Jie He Min-Ting Lin Hong-Xia Fu NingWang Department of neurology and Institute of neurology First Affiliated Hospital Fujian Medical University Fuzhou Fujian 350005 China Fujian Key Laboratory of Molecular Neurology Fuzhou Fujian 350005 China

Background： Lipid storage myopathy （LSM） is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency （MADD） is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging （MRI） is a helpful assistant, diagnostic tool for neuromuscular disorders. However, the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed. Methods： We assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients, combined with detailed clinical features and gene spectrum. Fat infiltration degree of the thigh muscle was scored while that ofgluteus was described as obvious or not. Associated muscular atrophy was defined as obvious muscle bulk reduction. Results： The mean scores were significantly different among the anterior, medial, and posterior thigh muscle groups. The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group （P 〈 0.00 l）. Moreover, the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group （P 〈 0.01）. About half of the patients displayed fat infiltration and atrophy in gluteus muscles. Of 28 patients, 12 exhibited atrophy in medial and/ or posterior thigh muscle groups, especially in posterior thigh muscle group. Muscle edema pattern was not found in all the patients. Conclusions： Late-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior, posterior, and medial thigh muscle groups, with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment. Our findings also suggest that muscle MRI of lower limbs is a help

关键词： Electron Transfer Flavoprotein Dehydrogenase Fat Infiltration Atrophy Late-onset Lipid Storage Myopathy MagneticResonance Imaging Multiple Acyl-coenzyme A Dehydrogenation Deficiency