中国现代神经疾病杂志最新文献_第6页

Study on the relation of brain functional connectivity to movement disorders and cognitive impairment in patients with rapid eye movement sleep behavior disorder 快速眼动睡眠行为障碍患者脑功能连通性与运动障碍和认知障碍的关系研究

中国现代神经疾病杂志 Pub Date : 2017-09-25 DOI: 10.3969/CJCNN.V17I9.1656

Hong-ju Zhang, Ying-ying Bai, Hong Wang, Yao Zhou, Y. You, Yulong Qin, Zhonglin Li, Ya-meng Zhang, Jiewen Zhang

{"title":"Study on the relation of brain functional connectivity to movement disorders and cognitive impairment in patients with rapid eye movement sleep behavior disorder","authors":"Hong-ju Zhang, Ying-ying Bai, Hong Wang, Yao Zhou, Y. You, Yulong Qin, Zhonglin Li, Ya-meng Zhang, Jiewen Zhang","doi":"10.3969/CJCNN.V17I9.1656","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I9.1656","url":null,"abstract":"Objective To explore the relation between abnormal functional connectivity of substantia nigra and impairment of movement and cognition in patients with rapid eye movement sleep behavior disorder (RBD). Methods A total of 22 subjects, including 14 patients with RBD and 8 sex, age, education-matched healthy controls, were enrolled in this study according to international diagnostic criteria. Unified Parkinson's Disease Rating Scale Ⅲ (UPDRS Ⅲ) and Hoehn-Yahr Stage were used to evaluate motor function. Digit Ordering Test - Attention (DOT - A), Symbol Digit Modalities Test (SDMT), Stroop Color-Word Test (SCWT), Trail Making Test (TMT), Rey-Osterrieth Complex Figure Test (ROCFT), Clock Drawing Test (CDT), Boston Naming Test (BNT) and Auditory Verbal Learning Test (AVLT) were used to evaluate cognitive function. The functional connectivity from left and right substantia nigra to brain region were examined. Results There were no statistical differences of UPDRSⅢ and Hoehn?Yahr Stage between 2 groups ( P > 0.05, for all). In comparison with control group, SDMT ( P = 0.001), ROCFT-copy ( P = 0.013) and AVLT-N2 ( P = 0.032) were significantly lower, while TMT-B test was significantly higher ( P =0.005) in RBD group. Compared with control group, the functional connectivity of right substantia nigra to left precentral gyrus ( P < 0.005) and right angular gyrus ( P < 0.005) were all decreased in RBD group. Conclusions The results suggest that cognitive impairment occurs earlier than movement disorders in RBD, and there are abnormal functional connectivity from right substantia nigra to left precentral gyrus and right angular gyrus, proving that abnormal functional connectivity is the base of behavior disorders in RBD. DOI: 10.3969/j.issn.1672-6731.2017.09.005","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"648-653"},"PeriodicalIF":0.0,"publicationDate":"2017-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44900178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Atypical lung carcinoid metastasis to the pituitary gland 不典型肺类癌转移至脑垂体

中国现代神经疾病杂志 Pub Date : 2017-09-25 DOI: 10.3969/cjcnn.v17i9.1661

Xiao-ling Yan, Fan Tang, Z. Han, Xue-bin Zhang, Shu-mei Jin

{"title":"Atypical lung carcinoid metastasis to the pituitary gland","authors":"Xiao-ling Yan, Fan Tang, Z. Han, Xue-bin Zhang, Shu-mei Jin","doi":"10.3969/cjcnn.v17i9.1661","DOIUrl":"https://doi.org/10.3969/cjcnn.v17i9.1661","url":null,"abstract":"Objective To study clinicopathological features, diagnosis and differential diagnosis of atypical lung carcinoid metastasis to the pituitary gland based on clinical data of one patient. Methods and Results A 81-year-old female presented headache and sudden blindness, and head MRI showed that there was a lesion at the saddle area. The tumor was detected at intrasellar and in grayish red during surgery. The diameter of tumor was 2 cm. The tumor was soft with no envelop at and well-defined margins, and insufficiency in blood supply. The tumor was removed completely along its edge. Under optical microscopy, the tumor was consisted of small round cells of the same size. Tumor cells were distributed around blood vessels in a nest manner or diffuse manner with brisk mitotic activity and focal necrosis. By using immunohistochemical staining, the tumor cells were diffusely positive for synaptophysin (Syn), CD56 and thyoid transcription factor - 1 (TTF - 1), focal positive for cytokeratin (CK) and P53, and negative for growth hormone (GH), prolactin (PRL), adrenocorticotropic hormone (ACTH), follicle stimulating hormone (FSH), thyroid stimulating hormone (TSH), luteinizing hormone (LH), S-100 protein (S-100), thyroglobulin (TG) and calcitonin. Ki?67 labeling index was about 33%. Conclusions Pituitary metastasis is a rare tumor, and only a few cases of atypical lung carcinoid metastasis to the pituitary gland have been reported. Definite diagnosis could be made by history, typical histopathological characteristics and immunohistochemical expressions. DOI: 10.3969/j.issn.1672-6731.2017.09.010","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"674-679"},"PeriodicalIF":0.0,"publicationDate":"2017-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47426829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Interpretation of "Guidelines for the diagnosis and treatment of insomnia disorder in China" 解读《中国失眠障碍诊疗指南》

中国现代神经疾病杂志 Pub Date : 2017-09-25 DOI: 10.3969/cjcnn.v17i9.1653

Shuai Liu, Bin Zhang

引用次数: 11

Improve the understandings of standardized diagnosis and treatment of restless legs syndrome 提高对不宁腿综合征规范化诊疗的认识

中国现代神经疾病杂志 Pub Date : 2017-09-25 DOI: 10.3969/cjcnn.v17i9.1652

Yu-ping Wang

引用次数: 0

Wernicke's encephalopathy 脑病变

中国现代神经疾病杂志 Pub Date : 2017-09-25 DOI: 10.3969/CJCNN.V17I9.1666

T. Han

引用次数: 0

Unsteady gait and weakness of limbs for three months 步态不稳定，四肢无力达三个月

中国现代神经疾病杂志 Pub Date : 2017-09-25 DOI: 10.3969/CJCNN.V17I9.1665

Jie Li, C. Mao, X. Wan, B. Peng, L. Cui

引用次数: 0

Advances in diagnosis and treatment of limb-girdle muscular dystrophy 肢带肌营养不良的诊断和治疗进展

中国现代神经疾病杂志 Pub Date : 2017-08-25 DOI: 10.3969/CJCNN.V17I8.1642

Meng Yu, Zhao-xia Wang

引用次数: 0

Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy 1例头部震颤和小脑萎缩的临床表型和基因突变

中国现代神经疾病杂志 Pub Date : 2017-07-25 DOI: 10.3969/CJCNN.V17I7.1630

Kunpeng Xie, W. Gu, Y. Hao, Yuan-yuan Chen, Jin Zhang, Xin Zhang

{"title":"Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy","authors":"Kunpeng Xie, W. Gu, Y. Hao, Yuan-yuan Chen, Jin Zhang, Xin Zhang","doi":"10.3969/CJCNN.V17I7.1630","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I7.1630","url":null,"abstract":"Objective To make the diagnosis for a patient presented with head tremor and cerebellar atrophy by integrating clinical features and accessory examination with genetic testing and to explore the interpretation of genetic testing results. Methods A 30-year-old male patient's medical information, clinical pheontype, family history and accessory examinations were collected. The next?generation sequencing (NGS) of exons in 3994 causative genes of Mendelian inheritance diseases and the family tree verification were carried out. China Human Phenotype Ontology (CHPO), Phenomizer, Ensembl and Online Mendelian Inheritance in Man (OMIM) database were used to interpret the genetic test results. Results The patient carried heterozygous mutation of spinocerebellar ataxia type 19 (SCA19) related KCND3 gene c.1057A > G (p. Ser353Gly), but his parents did not carry this mutation. The patient also carried heterozygous mutation of parkinsonism type 20 (PARK20) related SYNJ1 gene c.4436C > T (p.Thr1479Ile) which was also seen in his mother. Phenotypic similarity analysis showed the patient's phenotype was correspond with the phenotype of SCA19, and the variation locus of KCND3 gene c.1057A > G was highly conservative with homologous gene in different species. Conclusions By means of the integration of clinical phenotype with the result of genetic test, KCND3 gene c.1057A > G (p.Ser353Gly) carried in the patient is the pathogenic mutation. DOI: 10.3969/j.issn.1672-6731.2017.07.007","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"513-518"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41990354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduria 一个维生素B12依赖性甲基丙二酸尿症家族的临床表型和基因突变分析及预后评估

中国现代神经疾病杂志 Pub Date : 2017-07-25 DOI: 10.3969/CJCNN.V17I7.1632

L. Jing, Yiming Sun, Liming Ou, Yuling Zhu, Liang Wang, Huan Li, Cheng Zhang

{"title":"Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduria","authors":"L. Jing, Yiming Sun, Liming Ou, Yuling Zhu, Liang Wang, Huan Li, Cheng Zhang","doi":"10.3969/CJCNN.V17I7.1632","DOIUrl":"https://doi.org/10.3969/CJCNN.V17I7.1632","url":null,"abstract":"Objective To explore the clinical features, genetic mutation and vitamin B 12 therapeutive effectiveness in vitamin B 12- dependent methylmalonic acidemia (MMA). Methods Clinical data in a pedigree of 4 members with vitamin B 12- dependent MMA was collected. Peripheral blood samples were collected for plasma amino acids and acylcarnitines and gene muatation analysis. The therapeutic efficacy of vitamin B 12 was evaluated. Results The initial presentations of the proband were underachievement and personality changes in 12-year old, and accompanied by visual hallucinations and weakness of lower limbs during the course of disease. The younger brother of the proband presented with bad-temper and lower acheivement. The analysis of plasma amino acid and acylcarnitine showed that proband and his younger brother's plasma propionylcarnitine and propionylcarnitine/acetylcarnitine ratio, and the level of methylmalonic acid in urine were increased significantly. Compound heterozygeous mutation of c.482G > A (p.Arg161Gln) and c.609G > A (p.Trp203X) in MMACHC gene were seen in the proband and her younger brother. Her father carried MMACHC gene missense mutation c.482G > A (p.Arg161Gln), while her mother carried MMACHC gene nonsense mutation c.609G > A (p.Trp203X). Symptoms of the proband were improved after vitamin B12 therapy. Conclusions The late - onset vitamin B 12 -dependent MMA is caused by compound heterozygote mutation of MMACHC gene. It had good responsive to vitamin B12 therapy. Early diagnosis and timely treatment may play a critical role for the outcomes of patients with this disease. DOI: 10.3969/j.issn.1672-6731.2017.07.009","PeriodicalId":10113,"journal":{"name":"中国现代神经疾病杂志","volume":"17 1","pages":"526-533"},"PeriodicalIF":0.0,"publicationDate":"2017-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42841680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Intraspinal enterogenous cyst 椎管内肠源性囊肿

中国现代神经疾病杂志 Pub Date : 2017-07-25 DOI: 10.3969/cjcnn.v17i7.1637

T. Han

引用次数: 0