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Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

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Chinese Medical Journal 2018年第4期131卷 448-453页

作者： Hua-Xu Liu Chuan-Qiang Pu qiang Shi Yu-Tong Zhang Rui Ban Department of Neurology Chinese People's Liberation Army General Hospital Beijing 100853 China School of Medicine Nankai University Tianjin 300071 China

Background： Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene （GAA）. A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease （LOPD） who carried novel GAA gene mutations. Methods： Clinical and pathological data of patients diagnosed with glycogen storage disease at our institution from April 1986 to August 2017 were collected, and next-generation sequencing of frozen muscle specimens was conducted. Results： Of the five patients included in the study, the median disease onset age was 13 years, with a median 5 years delay in diagnosis. The patients mainly manifested as progressive weakness in the proximal and axial muscles, while one patient developed respiratory insufficiency that required artificial ventilation. In muscle biopsies, vacuoles with variable sizes and shapes appeared inside muscle fibers, and they stained positive for both periodic acid-Schiff and acid phosphatase staining. Ten GAA gene mutations, including seven novel ones （c.796C〉A, c. 1057C〉T, c. 1201C〉A, c. 1780C〉T, c. 1799G〉C, c.2051C〉A, c.2235dupG）, were identified by genetic tests. Conclusions： The seven novel GAA gene mutations revealed in this study broaden the genetic spectrum of LOPD and highlight the genetic heterogeneity in Chinese LOPD patients.

关键词： Alpha-glucosidase DNA Mutational Analysis Genetic Heterogeneity Glycogen Storage Disease Type Ⅱ

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Increased Expression of the NOD-like Receptor Family, Pyrin Domain Containing 3 Inflammasome in Dermatomyositis and Polymyositis is a Potential Contributor to Their Pathogenesis

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Chinese Medical Journal 2016年第9期129卷 1047-1052页

作者： Xi Yin Gen-Cheng Han Xing-Wei Jiang qiang Shi Chuan-Qiang Pu Department of Neurology Chinese People's Liberation Army General Hospital Beijing 100853 China Department of Immunology Institute of Basic Medical Sciences Academy of Military Medical Sciences Beijing 100850 China

Background： Dermatomyositis （DM） and polymyositis （PM） are common inflammatory myopathies whose immunopathogenic mechanisms remain poorly understood. The NOD-like receptor family, pyrin domain containing 3 （NLRP3） inflammasome is a type of cytoplasmic multiprotein inflammasome and is responsible for the activation of inflammatory reactivations. Responding to a wide range of exogenous and endogenous microbial or sterile stimuli, NLRP3 inflammasomes can cleave pro-caspase- 1 into active caspase- 1, which processes the pro-infammatory cytokines pro-interleukin （IL）-1 β and pro-IL-18 into active and secreted IL-1β and I L-18. The NLRP3 inflammasome is implicated in infectious and sterile inflammatory diseases. However, it remains unclear whether it is involved in the pathogenesis of DM/PM, which we aim to address in our research. Methods： In this study, 22 DM/PM patients and 24 controls were recruited. The protein and RNA expression of IL-113, IL-18, NLRP3, and caspase-1 in serum and muscle samples were tested and compared between the two groups. Results： The serum IL-1 β and IL-18 levels were significantly higher in DM/PM patients than those in the controls by enzyme linked immunosorbent assay （EL1SA, DM vs. control, 25.02 ± 8.29 ng/ml vs. 16.49 ± 3.30 ng/ml, P 〈 0.001 ; PM vs. control, 26.49±7.79 ng/ml vs. 16.49 ± 3.30 ng/ml, P 〈 0.001）. Moreover, the real-time quantitative reverse transcription-polymerase chain reaction （qRT-PCR） showed that DM/PM patients exhibited higher RNA expression of IL-lβ, IL-18, and NLRP3 in the muscle （for IL-1 β, DM vs. control, P 0.0012, PM vs. control, P = 0.0021 ; for IL- 18, DM vs. control, P = 0.0045, PM vs. control, P 0.0031 ; for NLRP3, DM vs. control, P = 0.0017, PM vs. control, P 0.0006）. Moreover, the protein expression of NLRP3 and caspase- 1 in muscle samples of DM/PM patients were also significantly elevated compared to that in the muscles of the controls. Conclusions： Our findings demonstrate that the NLRP3 inflammasome is implicated in the pathogenesis of DM/PM. High NLRP

关键词： Autoimmunity Dermatomyositis NOD-like Receptor Family, Pyrin Domain Containing 3 Inflammasome Polymyositis

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A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient

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Chinese Medical Journal 2018年第13期131卷 1569-1574页

作者： Rui Ban Jun-Hong Guo Chuan-Qiang Pu qiang Shi Hua-Xu Liu Yu-Tong Zhang Department of Neurology Chinese People's Liberation Army General Hospital Beijing 100853 China Department of Neurology School of Medicine Nankai University Tianjin 300071 China Department of Neurology The First Hospital of Shanxi Medical University Taiyuan Shanxi 030001 China

Background： Myoclonic epilepsy with ragged red fibers （MERRF） syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers （RRFs） in the muscle. T-to-C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid （tRNA^Gla） gene has previously been associated with maternally inherited diabetes and deathess. However, the association between MERRF and mitochondrial T14709C mutation （m.TI4709C） has never been reported before. Methods： Clinical information of a 17-year-old patient was collected; muscle biopsy and next-generation sequencing （NGS） of whole mitochondrial and neuromuscular disease panel were then conducted. Finally, sanger sequencing was carried out to confirm the mutations. Results： The patient presented a typical MERRF phenotype with muscle weakness, epileptic seizure, clonic episodes, cerebellar ataxia, and spinal scoliosis. Muscle biopsy showed RRFs which indicated abnormal mitochondrial functions. NGS of whole mitochondrial gene revealed m.TI4709C mutation, confirmed by Sanger sequencing. Conclusion： We present a sporadic patient with typical MERRF presentation carrying the mutation ofm.T14709C, which expanded the spectrum of re.T14709C.

关键词： m.TI4709C Myoclonic Epilepsy with Ragged Red Fibers Syndrome： Novel Mutation

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Clinical,Pathological,and Genetic Features of Two Chinese Cases with Filamin C Myopathy

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Chinese Medical Journal 2018年第24期131卷 2986-2988页

作者： Yu-Tong Zhang Chuan-Qiang Pu Rui Ban Hua-Xu Liu qiang Shi Xiang-Hui Lu Department of Neurology Chinese People's Liberation Army General HospitalBeijing 100853China School of Medicine Nankai UniversityTianjin 300071China Department of Neurology Hainan Branch of Chinese People's Liberation Army General HospitalSanyaHainan 572000China

To the Editor:Filamin C (FLNC)myopathy is an autosomal dominant inherited myopathy caused by mutations in FLNC.FLNC belongs to the filamin superfamily and cross-links actin filaments to form a network,anchoring membrane protein to the cytoskeleton. Human protein filamins comprise three isoforms encoded by the human genome:filamins A,B,and C.Among these,FLNC is a Z-disk protein encoded by the FLNC gene and is mainly expressed in the skeletal and cardiac muscles.FLNC gene is on chromosome 7q32-q35,containing genomic DNA of about 29.5 kb length and 49 encoding exons.FLNC is an isoform of serine protease expressed primarily in the striated muscle,containing 2725 amino acids, at a molecular weight of 291,000.FLNC protein contains two domains.The amino terminus consists of two ealponin homology domains that together constitute the actin-binding domain (ABD), followed by 24 filamin-type immunoglobulin (Ig-FLMN)repeated domains (rod-overlapping domains),the most carboxy-terminal of which is responsible for dimerization,assembly,and anchor filaments.

关键词： Clinical Pathological Genetic Features

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Reply to ＂Mitochondrial tRNA Glutamic Acid Variant 14709T〉C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers＂

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Chinese Medical Journal 2018年第20期131卷 2519-2520页

作者： Rui Ban Jun-Hong Guo Chuan-Qiang Pu qiang Shi Hua-Xu Liu Yu-Tong Zhang Department of Neurology Chinese People's Liberation Army General Hospital Beijing 100853 China School of Medicine Nankai University Tianjin 300071 China Department of Neurology The First Hospital of Shanxi Medical University Taiyuan Shanxi 030001 China

Thank you for your attention and interest for our study, and thank you for your questions and opinions as well.

关键词： MUTATIONS DNA

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Dural enhancement detected by magnetic resonance imaging reflecting the underlying causes of cerebral venous sinus thrombosis

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Chinese Medical Journal 2012年第8期125卷 1513-1516页

作者： TIAN Cheng-lin pu chuan-qiang Department of Neurology Chinese People's Liberation Army General HospitalBeijing 100853China

Dural enhancement detected by magnetic resonance imaging is a common finding in patients with cerebral venous sinus thrombosis （CVST） and is usually interpreted as a change secondary to CVST. We report two cases of CVST with intense and diffuse dural enhancement that resulted from pachymeningitis in one patient and spontaneous intracranial hypotension in another. Pachymeningitis and spontaneous intracranial hypotension were also determined to be the underlying causes of CVST. The clinical data of these two patients are described. In patients with CVST, dural enhancement is not always a secondary change to CVST. It can be a manifestation of the underlying causes of CVST. When diffuse and intense dural enhancement is revealed, sufficient ancillary tests are warranted to rule out other potential patholooical chanoes of the dura mater those can result in CVST.

关键词： cerebral venous sinus thrombosis magnetic resonance imaging pachymeningitis spontaneous intracranial hypotension

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Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision： A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

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Chinese Medical Journal 2016年第15期129卷 1805-1810页

作者： Ting Chen Xiang-Hui Lu Hui-Fang Wang Rui Ban Hua-Xu Liu qiang Shi Qian Wang Xi Yin Chuan-Qiang Pu Department of Neurology Chinese PLA General Hospital Beijing 100853 China Department of Neurology West China Hospital Sichuan University Chengdu Sichuan 610041 China Department of Neurology Hainan Branch of Chinese PLA General Hospital Sanya Hainan Province China

Background： Myopathies with rimnled vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected. Methods： A clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography （EMG）, serum creatine kinase （CK）, bone X-rays, and brain magnetic resonance imaging （MRI） were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out. Results： Disease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found. Conclusions： We reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been tbund and needs further study.

关键词： Inclusion Body Rimmed Vacuoles Whole-exome Sequencing

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Treatment guidelines of chronic inflammatory demyelinating polyneuropathy in China

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Neuroimmunology and Neuroinflammation 2017年第2期4卷 20-23页

作者： Li-Ying Cui Chuan-Qiang Pu Xue-qiang Hu Department of Neurology Peking Union Medical HospitalChinese Academy of Medical ScienceBeijing100730China Department of Neurology Chinese PLA General HospitalBeijing100853China Department of Neurology the Third Affiliated Hospital of Sun Yat-Sen UniversityGuangzhou510630GuangdongChina

Chronic inflammatory demyelinating polyradiculoneuropathy, or chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired immune-mediated inflammatory disorder at the peripheral nervous system, in which the progression is chronic and also remission relapse. In most cases, it is also associated with cerebrospinal fluid (CSF) protein-cell separation. Electrophysiologically, the peripheral nerve conduction velocity decreases, blocks and characterized as discrete abnormal waveform. Pathologically, there is also multifocal demyelination of myelinated fibers, nerve endometrial edema, inflammatory cell infiltration, etc.

关键词： Treatment guidelines China

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A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb？girdle Muscle

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Chinese Medical Journal 2017年第19期130卷 2279-2282页

作者： Ying Zhang Yi Dai Jing-Na Han Zhao-Hui Chen Li Ling Chuan-Qiang Pu Li-Ying Cui Xu-Sheng Huang Department of Neurology Chinese People's Liberation Army General Hospital Beijing 100853 China Cadre Ward Two The First Affiliated Hospital of Chinese People's Liberation Army General Hospital Beijing 100843 China Department of Neurology Peking Union Medical College Hospital Beijing 100730 China Neuroscience Center Chinese Academy of Medical Sciences Beijing 100730 China

Background： Congenital myasthenic syndromes （CMSs） are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. However, CMS reports about this gene mutation were rare. Here, we report a novel homozygous missense mutation （c.5302G〉C） of AGRN in a Chinese CMS pedigree. Methods： We performed a detailed clinical assessment of a Chinese family with three affected members. We screened for pathogenic mutations using a disease-related gene panel containing 519 genes associated with genetic myopathy （including 17 CMS genes）. Results： In the family, the proband showed limb-girdle pattern of weakness with sparing of ocular, facial, bulbar, and respiratory muscles. Repetitive nerve stimulation showed a clear decrement of the compound muscle action potentials at 3 Hz only. Pathological analysis of the left tibialis anterior muscle showed predominance of type I fiber and the presence of scattered small angular fibers. The proband＇s two elder sisters shared a similar but more severe phenotype. By gene analysis, the same novel homozygous mutation （c.5302G〉C, p.A1768P） of AGRN was identified in all three affected members, whereas the same heterozygous mutation was found in both parents, revealing an autosomal recessive transmission pattern. All patients showed beneficial responses to adrenergic agonists. Conclusions： This study reports a Chinese pedigree in which all three children carried the same novel AGRN mutation have CMS only affecting limb-girdle muscle. These findings might expand the spectrum of mutation in AGRN and enrich the phenotype of CMS.

关键词： AGRN Congenital Myasthenic Syndrome Gene Mutation

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Differences of maternal mortality rate between Shanghai and New York city from the perspective of regulatory policy

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Chinese Medical Journal 2020年第7期133卷 792-799页

作者： Li Li Cheng-Yue Li Qing-Yu Zhou chuan pu Ling-Zhong Xu Tian-qiang Xu Chao Hao Zhi Hu Mo Hao Research Institute of Health Development Strategies Fudan UniversityShanghai 200032China Collaborative Innovation Center of Social Risks Governance in Health Fudan UniversityShanghai 200032China School of public Health and Management Chongqing Medical UniversityChongqing 400016China School of public Health Shandong UniversityJinanShandong 250012China Institute of Inspection and Supervision Shanghai Municipal Commission of Health and Family PlanningShanghai 200031China Changzhou Center for Disease Control and Prevention NanjingJiangsu 213003China Anhui Medical University HefeiAnhui 230032China

Background:Regulatory policy(RP)is known as a major factor to improve health care system performance.A significant difference in maternal mortality rates(MMRs)was observed between New York city(NYC)and Shanghai(SH),both first-class international metropolises.This study aims to adopt a quantitative evaluation model to analyze whether RP differences contribute to the different MMRs of the two cities.Methods:Based on collection of all publicly released policy documents regarding maternal health in the two cities,we assessed and compared the status of their maternal health care RPs from 2006 to 2017 through a series of quantitative indicators as regulatory elements coverage rate(RECR),departmental responsibility clarity rate(DRCR),and accountability mechanism clarity rate(AMCR),based on two characteristics of comprehensiveness and effectiveness of RPs.Pearson correlation analysis,principal component analysis,and linear regression analysis were used to test the relationships between the indicators and MMR in SH and NYC.Results:By 2017,disparities of maternal health care RP are found between SH and NYC,from the indicators of RECR(100%vs.77.0%),DRCR(38.9%vs.45.1%),and AMCR(29.2%vs.22.5%).From 2006 to 2017,RECR,DRCR,and AMCR in SH have shown a higher growth of 8.7%,53.2%,and 45.2%,compared with growth of 25.0%,12.5%,and 2.9%in NYC.The three indicators were found all negatively correlated with MMR in SH(Coefficients=-0.831,-0.833,and-0.909,and P<0.01),while only RECR and DRCR had negative correlation with MMR in NYC(Coefficients=-0.736 and-0.683,and P<0.05).Linear regression showed that the principal components of the three indicators were found with significant impact on MMRs both in SH(R=0.914,R2=0.836,P<0.001)and NYC(R=0.854,R2=0.357,P=0.04).Conclusion:Compared with NYC,the more comprehensive and effective maternal health care RPs in SH had a stronger impact on MMR control,which contributed to the differences between the two cities’MMRs to some extent.The methods and indicators we adopted for assessment are reasonable

关键词： Maternal mortality Regulatory policy Maternal health Shanghai New York

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