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Hjermind LE Law I Jønch A Stokholm J Nielsen JE 《The Journal of neuropsychiatry and clinical neurosciences》2011,23(2):206-210
In this open-label pilot study, the authors evaluated the effect of memantine on the distribution of brain glucose metabolism in four Huntington's disease (HD) patients as determined by serial 18-fluoro-deoxyglucose [F(18)]FDG-PET scans over a period of 3-4 months (90-129 days, with one patient choosing to continue treatment over the 18-month follow-up period). The treatment regimen was well tolerated. No significant differences on neuropsychological parameters before and after treatment were detected; but the patient who continued treatment did not deteriorate at 18 months' reevaluation, whereas the three patients who had stopped treatment after 3 to 4 months had minor progression in all cognitive domains on re-evaluation 12 months after the end of treatment. 相似文献
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[目的]探讨锰染毒条件下大鼠大脑热休克蛋白27(HSP27)和70(HSP70)的变化规律。[方法]健康2月龄雄性SD大鼠50只,随机分为5组:生理盐水对照组和Mn2+染毒2.5、5.0、10.0、20.0mg/kg组(分别以A、B、C、D和E组表示)。每只大鼠每天腹腔注射染毒0.5mL,连续30d,处死大鼠后采用等离子体原子发射光谱(ICP-AES)测定脑组织锰含量。通过实时荧光定量PCR(QT-PCR)检测大鼠亚慢性锰染毒后脑组织中HSP27和HSP70mRNA的相对表达水平。[结果]不同剂量组脑组织中的锰含量与对照组相比差异具有统计学意义(P<0.01)。与对照组相比,B、C、D、E组HSP27mRNA的相对表达量增加,分别为对照组的2.00、5.51、8.78和6.61倍;HSP70mRNA的相对表达量也增加,分别是对照组的1.68、10.27、22.88和2.20倍。[结论]锰可以调节大鼠脑组织HSP27和HSP70表达的变化。 相似文献
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AE Jønch LG Larsen S Pouplier K Nielsen K Brøndum-Nielsen Z Tümer 《American journal of medical genetics. Part A》2012,(9):2302-2308
Partial duplications and deletions of chromosome 13 are rare and the phenotypic expressions of both aneuploidies are highly variable. Here we report on a fetus diagnosed prenatally with partial trisomy of 13q and a diaphragmatic hernia as a sole malformation. The parents had decided to terminate the pregnancy after the finding of diaphragmatic hernia by ultrasound scan, which was also confirmed by autopsy of the fetus. Subsequently chromosome analysis, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (array CGH) was carried out on fetal tissue. The chromosome analysis revealed additional material on chromosome 13, which was shown to be from the same chromosome, by FISH analysis. Array CGH demonstrated a partial duplication and a small deletion at the distal long arm of chromosome 13. The parents had normal karyotypes. This is the first case of a de novo pure partial duplication of 13q31.3-q34 and distal deletion of 13q34 with a phenotype apparently only involving a diaphragmatic hernia and three lung lobes on both sides. Microarray analysis was useful in refining the chromosomal imbalance and suggesting a candidate region for diaphragmatic hernia. ? 2012 Wiley Periodicals, Inc. 相似文献
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Vassiliou V Kardamakis D Quattrocchi CC Dell'aia P Beomonte Zobel B 《La Radiologia medica》2008,113(5):771-2; author reply 772-3
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Javier Díez García Gonzalo Ríos Altolaguirre Julio Moreno Domingo Gaizka Mallabiabarrena Ormaetxea Nahia Aia Goikoetxea Estefanía Abanto Gonzalvo Patricia Cobos Baena Txantón Martínez-Astorquiza Ortiz de Zárate 《Progresos de Obstetricia y Ginecología》2009
Objective
The aim was to analyse our first results in the sentinel lymph node procedure in vulvar cancer, as regards the detection rate, false negative cases and relation with cancer recurrence or not.Material and methods
Retrospective study of first 9 cases of sentinel lymph node detection in vulvar squamous cell carcinoma, between June 2004 and December 2007.Results
We identified the sentinel node in 8 out of 9 patients (88% detection rate). There were no false negative cases, giving a negative predictive value of 100%. Only one patient with a negative sentinel node died of vulvar cancer. She also had Fanconi anaemia.Conclusions
Sentinel lymph node detection in patients with squamous cell carcinoma of the vulva is feasible, and can be an alternative to conventional inguinofemoral lymphadenectomy. 相似文献19.
Deborah A Hall Rachael C Birch Mathieu Anheim Aia E J?nch Elizabeth Pintado Joanne O’Keefe Julian N Trollor Glenn T Stebbins Randi J Hagerman Stanley Fahn Elizabeth Berry-Kravis Maureen A Leehey 《Journal of Neurodevelopmental Disorders》2014,6(1):31
This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013. 相似文献