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81.
IntroductionA phenotype of isolated parkinsonism mimicking Idiopathic Parkinson's Disease (IPD) is a rare clinical presentation of GRN and C9orf72 mutations, the major genetic causes of frontotemporal dementia (FTD). It still remains controversial if this association is fortuitous or not, and which clinical clues could reliably suggest a genetic FTD etiology in IPD patients. This study aims to describe the clinical characteristics of FTD mutation carriers presenting with IPD phenotype, provide neuropathological evidence of the mutation's causality, and specifically address their “red flags” according to current IPD criteria.MethodsSeven GRN and C9orf72 carriers with isolated parkinsonism at onset, and three patients from the literature were included in this study. To allow better delineation of their phenotype, the presence of supportive, exclusion and “red flag” features from MDS criteria were analyzed for each case.ResultsAmongst the ten patients (5 GRN, 5 C9orf72), seven fulfilled probable IPD criteria during all the disease course, while behavioral/language or motoneuron dysfunctions occurred later in three. Disease duration was longer and dopa-responsiveness was more sustained in C9orf72 than in GRN carriers. Subtle motor features, cognitive/behavioral changes, family history of dementia/ALS were suggestive clues for a genetic diagnosis. Importantly, neuropathological examination in one patient revealed typical TDP-43-inclusions without alpha-synucleinopathy, thus demonstrating the causal link between FTD mutations, TDP-43-pathology and PD phenotype.ConclusionWe showed that, altogether, family history of early-onset dementia/ALS, the presence of cognitive/behavioral dysfunction and subtle motor characteristics are atypical features frequently present in the parkinsonian presentations of GRN and C9orf72 mutations. 相似文献
82.
Ryan C. Bialas 《Journal of pediatric surgery》2008,43(12):2151-2155
Objective
Video-assisted thoracic surgery (VATS) for treatment of spontaneous pneumothorax refractory to nonoperative management was first reported in children by Rodgers in 1986 (Ann Surg. 1986; 204:677-680). Small series have shown success with apical blebectomy, mechanical or chemical (talc) pleurodesis, or combination techniques. We report the largest pediatric series of VATS for primary spontaneous pneumothorax (PSP) to date, to assess outcomes and compare techniques.Methods
Retrospective review of all children undergoing VATS for PSP between 1999 and 2007 at 2 university-affiliated hospitals by the same group of surgeons. Mann-Whitney U tests and χ2 used (P < .05 = significant).Results
Thirty-two patients underwent 41 VATS procedures (32 initial-30 unilateral, 2 bilateral; 9 subsequent-7 contralateral, 2 ipsilateral recurrences). Mean age at presentation was 16.5 years (range, 13-20 years). Blebs were identified at the time of VATS in 95% of patients, but in 12.5%, they were on lower lobes. Mean duration of postoperative air leak was 2.7 days, postoperative hospital length of stay was 5.0 days, and postoperative chest tube duration was 5.1 days; 2 patients required Heimlich valves, which were managed at home. Five different surgical techniques were used as follows: blebectomy plus mechanical pleurodesis had the shortest length of stay (4.3 days) and need for chest tube drainage (4.1 days) but had a higher recurrence risk (6% major, 16% minor) than blebectomy plus chemical pleurodesis. The risk of requiring an additional VATS procedure (ipsilateral or contralateral) was 28%. Mean follow-up was 46 months.Conclusions
Blebectomy plus either mechanical or chemical pleurodesis were both associated with acceptable outcomes. Blebectomy plus chemical pleurodesis appears to have less risk of ipsilateral recurrence but longer postoperative stay and chest tube drainage. 相似文献83.
比较两种云芝糖肽对体外人癌细胞株的抗癌作用 总被引:4,自引:0,他引:4
本文应用四株人体肿瘤细胞株作为靶细胞,比较了云芝糖肽PSP与PSK在体外对它们的作用。结果表明PSP与PSK的抗癌生物活性基本相同,二者均对靶细胞增殖具有中等抑制作用。PSP在1000μg/ml的浓度时对人肺腺癌细胞株(SPC)仍能引起一系列的形态学异常变化,如细胞肿大,核染色质凝聚,锯齿状核和多核现象。 相似文献
84.
Chisako Oyanagi MD Yukinori Katsumi MD PhD Takashi Hanakawa MD PhD Takuya Hayashi MD Din ha Duy Thuy MD Kazuo Hashikawa MD PhD Yasuhiro Nagahama MD PhD Hidenao Fukuyama MD PhD Hiroshi Shibasaki MD PhD 《Journal of neuroimaging》2002,12(4):316-324
BACKGROUND AND PURPOSE: To investigate the clinical applicability and validity of [123I] iodobenzofuran (IBF) single-photon emission computed tomography (SPECT), the authors analyzed the changes in striatal dopamine D2 receptor binding among 7 patients with Parkinson's disease (PD), 6 patients with progressive supranuclear palsy (PSP) (Hoehn and Yahr stage II to IV), and 8 normal controls. METHODS: SPECT data were acquired every 1 minute for 60 minutes postinjection of 167 MBq [123I] IBF. The binding potential (BP) of the striatum was evaluated by 2 methods: region-of-interest (ROI) analysis by the nonlinear least squares method using blood sampling and time-series brain radioactivities in normal controls and a voxel-by-voxel method based on a region model that provided parametric images of BP without blood sampling. RESULTS: Statistical parametric mapping indicated that BP in the striatum of PSP patients was significantly lower than that of PD patients and normal controls (P < .005, uncorrected), and there was no significant difference between PD patients and normal controls, even in patients with PD at an advanced stage. Data derived from the ROI method and a simplified reference region model showed good correlations in normal controls, indicating the validity of the latter model. CONCLUSIONS: The results predict that [123I] IBF SPECT, especially voxel-by-voxel BP parametric imaging, can discriminate among extrapyramidal diseases such as PD and PSP and may be applicable for clinical use. 相似文献
85.
86.
Exposure to cyanobacterial toxins in freshwater systems, including both direct (e.g., drinking water) and indirect (e.g., bioaccumulation in food webs) routes, is emerging as a potentially significant threat to human health. We investigated cyanobacterial toxins, specifically cylindrospermopsin (CYN), the microcystins (MCYST) and the “paralytic shellfish toxins” (PST), in Lago Catemaco (Veracruz, Mexico). Lago Catemaco is a tropical lake dominated by Cylindrospermopsis, specifically identified as Cylindrospermopsis catemaco and Cylindrospermopsis philippinensis, and characterized by an abundant, endemic species of snail (Pomacea patula catemacensis), known as “tegogolos,” that is both consumed locally and commercially important. Samples of water, including dissolved and particulate fractions, as well as extracts of tegogolos, were screened using highly specific and sensitive ELISA. ELISA identified CYN and PST at low concentrations in only one sample of seston; however, both toxins were detected at appreciable quantities in tegogolos. Calculated bioaccumulation factors (BAF) support bioaccumulation of both toxins in tegogolos. The presence of CYN in the phytoplankton was further confirmed by HPLC-UV and LC-MS, following concentration and extraction of algal cells, but the toxin could not be confirmed by these methods in tegogolos. These data represent the first published evidence for CYN and the PST in Lago Catemaco and, indeed, for any freshwater system in Mexico. Identification of the apparent bioaccumulation of these toxins in tegogolos may suggest the need to further our understanding of the transfer of cyanobacterial toxins in freshwater food webs as it relates to human health. 相似文献
87.
目的研究丙戊酸钠联合帕利哌酮治疗精神分裂症的临床疗效。方法选择2014年4月—2016年1月到北京市昌平区中西医结合医院诊治的精神分裂症患者104例,随机分为对照组和治疗组,每组各52例。对照组口服帕利哌酮缓释片,起始剂量为6 mg/d,1周内根据病情将剂量调整为6~9 mg/d。治疗组在对照组治疗基础上口服丙戊酸钠缓释片,起始剂量为0.5 g/d,最大剂量为1.5~2.0 g/d,可根据病情酌情加减。两组患者均持续治疗12周。观察两组的临床疗效,同时比较两组治疗前后阴性和阳性症状量表(PANSS)评分和个人和社会功能量表(PSP)评分的变化情况。结果治疗后,对照组和治疗组的总有效率分别为80.77%、94.23%,两组比较差异有统计学意义(P0.05)治疗后6、12周,两组阳性症状评分、阴性症状评分、精神病理评分、PANSS总分显著下降,PSP评分显著升高,同组治疗前后差异有统计学意义(P0.05),且治疗组这些评分的改善程度优于对照组,两组比较差异具有统计学意义(P0.05)。结论丙戊酸钠联合帕利哌酮治疗精神分裂症疗效显著,有效缓解临床症状,改善社会功能,安全性好,具有一定的临床推广应用价值。 相似文献
88.
89.
目的探讨社区康复干预对慢性精神分裂症患者生活能力和社会功能康复的影响。方法将120例精神分裂症患者随机分为两组,每组60例,研究组56例完成研究,对照组54例完成研究。两组均接受常规药物维持治疗和一般健康教育,研究组在此基础上实施康复干预,干预6个月后改为电话随访。观察1a。采用个人和社会功能量表进行测评分析。结果个人和社会功能量表总分及各因子分,研究组治疗前后比较差异均有极显著性(P〈0.01),对照组治疗前后比较差异均无显著性(P〉0.05);同期两组间比较,治疗前差异无显著性(P〉0.05),治疗1a末差异均有极显著性(P〈0.01)。结论对慢性精神分裂症患者实施社区康复干预,能有效地提高慢性精神分裂症患者的生活能力,改善社会功能,减少疾病复发。 相似文献
90.
Neuronal and glial changes associated with tau, TAR DNA binding protein of ~43 kDa (TDP-43), and fused in sarcoma (FUS) together constitute the pathologic spectrum of frontotemporal lobar degeneration (FTLD). Most patients with FTLD present with prominent behavior or language changes, sometimes accompanied by extrapyramidal symptoms or motor neuron disease. Identification of FTLD patients with mutations in genes for tau, TDP-43, and FUS lends strong support for their pathogenic roles in FTLD, and elucidation of their dysfunction will pave the way for development of substrate specific therapy. However, there remains no reliable biomarker for early detection of FTLD or prediction of underlying FTLD pathologic change. Clinical syndromes usually reflects the earliest affected brain regions where atrophy can be visualized on structural MRI, but neither clinical nor structural imaging-based biomarkers has been accurately correlated with underlying pathology on the individual patient level. Biochemical markers in the cerebrospinal fluid (CSF) have also been investigated in FTLD and related disorders, including amyotrophic lateral sclerosis (ALS) and progressive supranuclear palsy (PSP). However, their accuracy and pathologic significance need to be confirmed in future multi-center studies. Here we review the progress made in FTLD biomarkers, including clinical phenotype/feature characterization, neuropsychological analysis, CSF and plasma analytes, and patterns of brain atrophy and network dysfunction detectable on brain imaging. Given the pathologic overlap of FTLD with ALS and PSP, collaboration with specialists in those fields will be essential in the translation of promising FTLD biomarkers into clinical practice. 相似文献