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Optical coherence tomography findings in chronic progressive external ophthalmoplegia

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Chinese Medical Journal 2019年第10期132卷 1202-1207页

作者： Yuan Wu Lei Kang Hai-Long Wu Yue Hou zhao-xia wang Department of Ophthalmology Peking University First Hospital Beijing 100034 China Department of Neurology Peking University First Hospital Beijing 100034 China

Background: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy caused by multiple mtDNA abnormalities. There is little information about the changes of ocular fundus with CPEO. The aim of this work was to measure and evaluate changes in the macular retinal thickness and optic nerve head in patients with CPEO using spectral-domain optical coherence tomography and to compare the findings with those of healthy individuals. Methods: Totally, 18 CPEO patients were enrolled in this study. Healthy volunteers matched for gender, age, and diopter settings were included as a control group. The retinal thickness of macular central fovea, inner and outer retinal layer thickness of perifoveal macular, optic nerve head parameters, and peripapillay retinal nerve fiber layer thickness (pRNFLT) for all included cases were measured using spectral-domain optical coherence tomography. A paired t test was used to compare the differences in the studied parameters between the two groups. The correlations between macular retinal thickness, pRNFLT, disease duration, and age of onset were also analyzed. Results: Among the macular parameters, retinal thickness of macular central fovea (t=—2.135, P < 0.05) and outer retinal layer thickness (t =—1.994, P < 0.05) of patients in the CPEO group were statistically significant lower than those of patients in the normal control group. For the optic nerve head parameters, the patients in the CPEO group showed a larger rim volume (t =—2.499, P < 0.05) and nerve head volume (t =—2.103, P < 0.05). The overall pRNFLT of patients in the CPEO group was statistically significant lower than that of patients in the control group (t =—4.125, P < 0.05). The comparison of pRNFLT in eight sectors showed that the pRNFLT of patients in the CPEO group was statistically significant lower than that of the control group mainly in the inferior and temporal sectors. The degree of pRNFL defect negatively correlated with the disease duration (r =—0.583, P < 0.05). Conclusions: The re

关键词： Optical coherence tomography Chronic progressive external ophthalmoplegia Retina Nerve fiber layer

Compound Heterozygote Mutation of C12orf65 Causes Distal Motor Neuropathy and Optic Atrophy

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Chinese Medical Journal 2017年第2期130卷 242-244页

作者： xiao-Jing Fang Wei Zhang He Lyu zhao-xia wang Wei-Wei wang Yun Yuan Department of Neurology Peking University First Hospital Beijing 100034 China

The C12orf65 gene is a nuclear gene that encodes a mitochondrial matrix protein contributing to mitochondrial translation. C12orf65 gene-related diseases are rare and present with large heterophenotypes. Most of the reported patients have had optic atrophy with intellectual disability, encephalomyopathy, spastic paraplegia, and ophthalmoplegia. Peripheral neuropathy has been reported in one thmily. Here, we report a case of a Chinese patient with optic atrophy and distal motor neuropathy due to a novel compound heterozygous mutation in the C12orf65 gene.

关键词： C12orf65 Protein Inherited Peripheral Neuropathy Optic Atrophy

Levetiracetam administration is correlated with lower mortality in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: a retrospective study

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Chinese Medical Journal 2019年第3期132卷 269-274页

作者： Zhe Zhang Dan-Hua zhao Xu-Tong zhao xiao Zhang Hui Xiong Xin-Hua Bao Yun Yuan zhao-xia wang Department of Neurology Peking University First HospitalBeijing 100034China Department of Neurology Beijing Tiantan HospitalCapital Medical UniversityBeijing 100070China Department of Neurology Peking University International HospitalBeijing 102206China Department of Neurology Beijing Friendship HospitalCapital Medical UniversityBeijing 100050China Department of Pediatrics Peking University First HospitalBeijing 100034China

Background:Studies on the relationship between antiepileptic drug (AED) administration and clinical outcomes in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) remain scarce. Levetiracetam (LEV) is an AED that is neuroprotective in various neurologic disorders. This study aimed to determine the impact of LEV on the outcome of MELAS.Methods:A retrospective, single-center study was performed based on a large cohort of patients with MELAS with a history of seizures (n=102). Decisions on antiepileptic therapies were made empirically. Patients were followed up for 1 to 8 years (median, 4 years) and divided into 2 groups based on whether LEV was administered (LEV or non-LEV). The modified Rankin scale (mRS) scores and mortality risks were analyzed in all patients.Results:LEV, carbamazepine, benzodiazepines, topiramate, oxcarbazepine, valproate, and lamotrigine were administered in 48, 37, 18, 13, 11, 9, and 9 patients, singly or in combination, respectively. The mean mRS score of the LEV group (n=48) was lower than that of the non-LEV group (n=54;mean±standard deviation, 2.79±1.47 vs. 3.83±1.93, P=0.006) up to the end of the study. Nevertheless, there was no difference in the proportion of subjects without disability (mRS ranging 0-1) between the groups (P=0.37). The multivariate regressions revealed that LEV treatment was associated with lower mRS scores (odds ratio 0.32, 95% confidence interval [CI] 0.15-0.68, P=0.003) and mortality rates (hazard ratio 0.24, 95% CI 0.08-0.74, P=0.013). There was a significant difference in the Kaplan-Meier survival curves between the groups (χ^2=4.29, P=0.04).Conclusions:The LEV administration is associated with lower mortality in patients with MELAS in this retrospective study. Further laboratory research and prospective cohort studies are needed to confirm whether LEV has neuroprotective effects on patients with mitochondrial diseases.

关键词： Syndrome Seizures Epilepsy Anticonvulsants Levetiracetam Survival analysis

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

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Chinese Medical Journal 2016年第19期129卷 2287-2293页

作者： Su-Qin Jin Meng Yu Wei Zhang He Lyu Yun Yuan zhao-xia wang Department of Neurology Peking University First Hospital Beijing 100034 China

Background：Dysferlinopathy is caused by mutations in the dysferlin （DYSF） gene.Here,we described the genetic features of a large cohort of Chinese patients with this disease.Methods：Eighty-nine index patients were included in the study.DYSF gene analysis was performed by Sanger sequencing in 41 patients and targeted next generation sequencing （NGS） in 48 patients.Multiplex ligation-dependent probe amplification （MLPA） was performed to detect exon duplication/deletion in patients with only one pathogenic mutation.Results：Among the 89 index patients,79 patients were demonstrated to carry two disease-causing （73 cases） or possibly disease-causing mutations （6 cases）,including 26 patients with homozygous mutations.We identified 105 different mutations,including 59 novel ones.Notably,in 13 patients in whom only one pathogenic mutation was initially found by Sanger sequencing or NGS,3 were further identified to carry exon deletions by MLPA.The mutations identified in this study appeared to cluster in the N-terminal region.Mutation types included missense mutations （30.06%）,nonsense mutations （1 7.18%）,frameshift mutations （30.67%）,in-frame deletions （2.45%）,intronic mutations （17.79%）,and exonic rearrangement （1.84%）.No genotype-phenotype correlation was identified.Conclusions：DYSF mutations in Chinese patients clustered in the N-terminal region of the gene.Exonic rearrangements were found in 23% of patients with only one pathogenic mutation identified by Sanger sequencing or NGS.The novel mutations found in this study greatly expanded the mutational spectrum of dysferlinopathy.

关键词： Dysferlin Gene Dysferlinopathy Exonic Rearrangements China's Mainland Novel Mutation

Verification of workflow nets with transition conditions

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Journal of Zhejiang University-Science C(Computers and Electronics) 2012年第7期13卷 483-509页

作者： zhao-xia wang Jian-min wang xiao-chen ZHU Li-jie WEN School of Software Tsinghua UniversityBeijing 100084China Department of Computer Science and Technology Tsinghua UniversityBeijing 100084China MOE Key Laboratory for Information System Security Tsinghua UniversityBeijing 100084China National Laboratory for Information Science and Technology Tsinghua UniversityBeijing 100084China SDepartment of Logistical Information&Engineering Logistical Engineering UniversityChongqing 400016China

Workflow management is concerned with automated support for business processes.Workflow management systems are driven by process models specifying the tasks that need to be executed,the order in which they can be executed,which resources are authorised to perform which tasks,and data that is required for,and produced by,these tasks.As workflow instances may run over a sustained period of time,it is important that workflow specifications be checked before they are deployed.Workflow verification is usually concerned with control-flow dependencies only;however,transition conditions based on data may further restrict possible choices between tasks.In this paper we extend workflow nets where transitions have concrete conditions associated with them,called WTC-nets.We then demonstrate that we can determine which execution paths of a WTC-net that are possible according to the control-flow dependencies,are actually possible when considering the conditions based on data.Thus,we are able to more accurately determine at design time whether a workflow net with transition conditions is sound.

关键词：工作流网络转变状况确认进程模型

Study of Enhanced Depth Imaging Optical Coherence Tomography in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

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Chinese Medical Journal 2017年第9期130卷 1042-1048页

作者： xiao-Jing Fang Meng Yu Yuan Wu Zi-Hao Zhang Wei-Wei wang zhao-xia wang Yun Yuan Department of Neurology Peking University First Hospital Beijing 100034 China Department of Ophthalmology Peking University First Hospital Beijing 100034 China State Key Laboratory of Brain and Cognitive Science Beijing MR Center for Brain Research Institute of Biophysics Chinese Academy of Sciences Beijing 100101 China

Background： Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy （CADASIL） is a hereditar5 small artery disease caused by NOTCH3 gene mutation. We performed enhanced depth imaging optical coherence tomography （EDI-OCT） to evaluate the retinal vessel changes in CADASIL patients and assessed their consonance with brain magnetic resonance imaging （MPRI） findings. Methods： Of 27 genetically confirmed patients and an equal number of controls were recruited at the Peking University First ttospital from January 2015 to August 2016. All patients underwent 7T-MRI of the brain. Fazekas score, number of small infarcts and microblecds were evaluated. All patients and controls underwent EDI-OCT to measure subtbveal choroidal thickness （SFCT）, inner and outer diameters as well as arterial and venous wall thickness, and arterial venous ratio of the inner （AVRin） and outer diameters （AVRout）. The relation between retinal vessel changes and Fazekas scores, numbers of small infarcts, or microbleeds was analyzed. Paired t-test was used to compare the SFCT and retinal vessel measurement data between patients and controls. Spearman＇s correlation was used to investigmc the correlation between retinal vessel changes and MRI lesions. Results： In CADASI L patients, mean SFCT （268.37 ± 46.50 μm） and mean arterial inner diameter （93.46 ± 9.70 gin） were signilicantly lower than that in controls （P 〈 0.00 ）, P = 0.048, respectively）. Mean arterial outer diameter （ 131.74 ± 10.87 μm）, venous inner （ 128.99 ± 13.62 μm） and outer diameter （ 164.82 ±14.77 μm）, and mean arterial （ 19.13 ±1.85 μm） and venous （ 17.91 ±2.76 μm） wall thickness were significantly higher than that in controls （P = 0.023, P 0.004, P 〈 0.001, P 〈 0.001, respectively）. Arterial inner diameter （r= - 0.39, P 0.044）] AVRin （r -0.65, P 〈 0.001）, and AVR,, （r =0.56, P - 0.002） showed a negative correlation with the number of small infarcts. Venous inner diameter （rs=0.46, P= 0.016） showed a positive correlation with the number of small inf

关键词： Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy： Magnetic Resonancehnaging Optical Coherence Tomography Retinal Vessels

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

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Chinese Medical Journal 2017年第9期130卷 1049-1054页

作者： Yuan-Yuan Lu He Lyu Su-Qin Jin Yue-Huan Zuo Jing Liu zhao-xia wang Wei Zhang Yun Yuan Department of Neurology Peking University First Hospital Beijing 100034 China

Background： X-linked Charcot-Marie-Tooth type 1 （CMT1 X） disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein （GJB1） gene （also known as connexin 32）. This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations. Methods： A total of 22 patients from unrelated families, who were referred to Department of Neurology, Peking University First Hospital from January 2005 to January 2016, were identified with GJBI mutations. Their clinical records and laboratory findings were retrospectively collected and reviewed. Mutations in the GJB1 gene were analyzed by targeted next-generation sequencing （NGS）. Nucleotide alternations were confirnled with Sanger sequencing. Results： The CMT1X patients predominantly showed distal muscle weakness of lower limbs with mild sensory disturbance. The mean age of onset was 15.6 ± 8.7 years （ranging from 1 year to 42 years）. The sudden onset of cerebral symptoms appeared in four patients （ 18.2%）： two were initial symptoms. One case had constant central nervous system （CNS） signs. There were 19 different heterozygous mutations, including 15 known mutations and tbur novel mutations （c. II5G〉T, c.380T〉A, c.263C〉A, and c.818_819insGGGCT）. Among the 22 Chinese patients with CMT1X, the frequency of the GJB1 mutation was 4.5% in transmembrane domain 1 （TM1）, 4.5% in TM2, 27.7% in TM3, 9.1% in TM4, 4.5% in extracellular 1 （EC1）, 27.3% in EC2, 9.1% in intracellular loop, 13.6% in the N-terminal domain, and 4.5% in the C-ternlinal domain. CMTIX with CNS impairment appeared in five （22.7%） of these patients. Conclusions： This study indicated that CNS impairment was not rare in Chinese CMT1X patients. Mutations in the EC2 domain of the GJBI gene were hotspot in Chinese CMT1X patients.

关键词： Connexin 32 Gap Junction Beta-I Protein Neuropathy： X-linked Charcot-Marie-Tooth Type 1

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy

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Chinese Medical Journal 2018年第12期131卷 1472-1479页

作者： Hui-Ting Lin xiao Liu Wei Zhang Jing Liu Yue-Huan Zuo Jiang-Xi xiao Ying Zhu Yun Yuan zhao-xia wang Department of Neurology Peking University First Hospital Beijing 100034 China Department of Radiologyl Peking University First Hospitall Beijing 1000341 China

Background： LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy （EDMD）, limb-girdle muscular dystrophy （LGMD）, and LMNA-associated congenital muscular dystrophy （L-CMD）. Muscle magnetic resonance imaging （MRI） has become a useful tool in the diagnostic workup of patients with muscle dystrophies. This study aimed to investigate whether there is a consistent pattern of MRl changes in patients with LMNA mutations in various muscle subtypes. Methods： Twenty-two patients with LMNA-related muscular dystrophies were enrolled in this study. M RI of the thigh and/or calf muscles was performed in them. The muscle MRI features of the three subtypes were compared by the Mann-Whitney U-test. The relationship between the clinical and MRI findings was also investigated by Spearman＇s rank analyses. Results： The present study included five EDMD, nine LGMD, and eight L-CMD patients. The thigh muscle MRI revealed that the fatty infiltration of the adductor magnus, semimembranosus, long and short heads of the biceps femoris, and vasti lnuscles, with relative sparing of the rectus femoris, was the predominant change observed in the EDMD, LGMD, and advanced-stage L-CMD phenotypes, ahhough the involvement of the vasti muscles was not prominent in the early stage of L-CMD. At the level of the call; six patients （one EDMD, four LGMD, and one L-CMD） also showed a similar pattern, in which the soleus and the medial and lateral gastrocnemius muscles were most frequently observed to have fatty infiltration. The fatty infiltration severity demonstrated higher scores associated with disease progression. with a corresponding rate of 1.483 ＋ 0.075 × disease dnration （X）（r = 0.444, P - 0.026）. It was noteworthy that in six L-CMD patients with massive inflammatory cell infiltration in muscle pathology, no remarkable edema-like signals were observed in muscle MRI. Conclusions： EDMD, LGMD and advanced-staged L-CMD subtypes showed similar pattern of muscle MRI changes, while early-

关键词： Emery-Dreifuss Muscular Dystrophy Limb-Girdle Muscular Dystrophy Congenital Muscular Dystrophy LMNA Muscle Magnetic Resonance Imaging

T2 Mapping and Fat Quantification of Thigh Muscles in Children with Duchenne Muscular Dystrophy

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Current Medical Science 2019年第1期39卷 138-145页

作者： Liang YIN Zhi-ying XIE Hai-yan XU Sui-sheng ZHENG zhao-xia wang Jiang-xi xiaO Yun YUAN Department of Radiology Peking University First HospitalBeijing 100034China Department of Neurology Peking University First HospitalBeijing 100034China Department of Radiology Second Affiliated Hospital of Anhui Medical UniversityHefei 230601China

Quantitative magnetic resonance image(MRI)in individual muscles may be useful for monitoring disease progression in Duchenne muscular dystrophy(DMD).The purpose of this study w批to measure丁2 relaxation time of thigh muscles in children with DMD and healthy boys,and to correlate the T2 relaxation time of muscles with the fat fraction(FF)at quantitative magnetic resonance and results of clinical assessment.Thirty-two boys with DMD and 18 healthy boys were evaluated with T2 mapping and three-point Dixon MRI.Age,body mass index(BMI),muscle strength assessment,timed functional tests(time to walk or run 10 metres,rise from the floor and ascend four stairs),and the North Star Ambulatory Assessment(NSAA)were evaluated.Spearman’s correlation was used to assess the relationships between FF and clinical assessments and T2 relaxation time.The mean T2 relaxation time of thigh muscles in DMD was significantly longer than that in the control group(P<0.05),except for the gracilis(P=0.952).The gracilis,sartorius and adductor longus were relatively spared by fatty infiltration in DMD patients.The T2 relaxation time was correlated significantly with the mean FF in all muscles.Age,BMI,total muscle strength score,timed functional tests and NSAA were significantly correlated with the overall mean T2 relaxation time.T2 mapping may prove clinically useful in monitoring muscle changes as a result of the disease process and in predicting the outcome of DMD patients.

关键词： T2 mapping Duchenne muscular dystrophy skeletal muscle fat infiltration