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排序方式: 共有114条查询结果,搜索用时 312 毫秒
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V Leuzzi Ca Carducci Cl Carducci S Pozzessere A Burlina R Cerone D Concolino MA Donati L Fiori C Meli A Ponzone F Porta P Strisciuglio I Antonozzi N Blau 《Clinical genetics》2010,77(3):249-257
Leuzzi V, Carducci Ca, Carducci Cl, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N. Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency. This study aimed to investigate the clinical variability and factors implied in the outcome of 6‐pyruvoyl‐tetrahydropterin synthase deficiency (PTPSd). Biochemical and clinical phenotype, treatment variables, and 6‐pyruvoyl‐tetrahydropterin synthase (PTS) genotype, were explored retrospectively in 19 Italian patients (12 males and 7 females, aged 4 months to 33 years). According to the level of biogenic amines in cerebrospinal fluid (CSF) at the diagnosis, the patients were classified as mild (6) (normal level) or severe (13) (abnormal low level) form (MF and SF, respectively). Blood Phe ranged from 151 to 1053 µmol/l in MF (mean ± SD: 698 ± 403) and 342–2120 µmol/l in SF (mean ± SD: 1175 ± 517) (p = 0.063). Patients with MF showed a normal neurological development (a transient dystonia was detected in one), while all SF patients except one presented with severe neurological impairment and only four had a normal neurological development. The outcome of the SF was influenced by the precocity of the treatment. Serial CSF examinations revealed a decline of 5‐hydroxyindolacetic acid in MFs and an incomplete restoration of neurotransmitters in SFs: neither obviously affected the prognosis. PTS gene analysis detected 17 different mutations (seven so far unreported) (only one affected allele was identified in three subjects). A good correlation was found between genotype and clinical and biochemical phenotype. The occurrence of brain neurotransmitter deficiency and its early correction (by the therapy) are the main prognostic factors in PTPSd. 相似文献
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Objective: To study if the antioxidant (AO) N-Acetyl-L-cysteine (NAC) reduces the risk of hearing loss after acoustic accidents in humans.Design: A retrospective, observational study.Study sample: Personnel of the Swedish Armed Forces (SAF) exposed to military acoustic accidents during a 5 year period. Included in the study were 221 cases (mean age: 22.9 years). Most of the exposures, 84%, were weapon related. NAC (400?mg) was given directly after the accident in 146 cases; 75 had not received NAC.Results: The prevalence of hearing thresholds ≥25?dB HL, and the incidence of threshold shifts ≥10?dB, was lower in the NAC group than in the non-NAC group directly after the noise exposure. The deterioration was temporary and not discernable a long time after the accident. The difference was most pronounced in the right ear. The risk reduction to get a temporary hearing loss (TTS), affecting one or both ears was 39% (significant) in the NAC group.Conclusions: The study has demonstrated a significant reduction of the incidence of TTS by the use of NAC. Since cases of both permanent hearing loss (PTS) and noise-induced tinnitus are recruited from cases with TTS, the demonstrated risk reduction indicates a positive effect of NAC. 相似文献
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介绍了二炮总医院气压管道物流传输系统(PTS)的构成及安全应用情况,概括了该系统的安装工艺、应用经验及措施,为气压管道物流传输行业的建设和安全应用提供了有益的经验,尤其为当前医院的扩建工程提供了参考。 相似文献
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《International journal of audiology》2013,52(1):72-83
The result of this study, based on evoked responses and single-neuronal responses, reveal that there is a central involvement in auditory fatigue. In these experiments, cochlear potentials (microphonic and whole-nerve action potential) and inferior colliculus electrical responses were simultaneously obtained before and after excessive sound exposure. In general, sound exposure produced a greater reduction of the collicular evoked responses than of thecochleat microphonics and action potentials. Recordings from single neurons support the evoked-response findings 相似文献
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目的:观察晚期恶性肿瘤患者血栓前状态(PTS)检测的相关指标及其与中医证型的关系。方法:对112例晚期恶性肿瘤患者进行中医辨证,分为气滞血瘀证、气血亏虚证、痰湿结聚证和热毒内蕴证;检测患者的PTS相关指标:D-二聚体(DDI)、纤维蛋白原(FIB)、血小板(PLT)、C反应蛋白(CRP)、白细胞(WBC)、中性粒细胞%(N%);采用Binary Logistic回归模型分析中医证型与PTS多项指标的关系。结果:气滞血瘀证与FIB、DDI有明显相关性(P0.05),气血亏虚证与WBC、PLT、N%、CRP有明显相关性(P0.05);痰湿结聚证、热毒内蕴证同上述指标无明显相关性。结论:检测PTS相关指标对晚期恶性肿瘤的中医辨证具有一定的提示意义,同时也有助于指导中医药改善晚期恶性肿瘤患者PTS的临床实践。 相似文献
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David B. Moody William C. Stebbins Joseph E. Hawkins Jr. Lars -Göran Johnsson 《European archives of oto-rhino-laryngology》1978,220(1-2):47-72
Summary Eight Old World monkeys were exposed 8 h daily for 20 days to octave-band noise having center frequencies from 0.5–8 kHz at levels of 117–120 dB SPL. Two additional animals received exposures to wide-band, 120-dB SPL noise on the same schedule, and one animal was exposed to the 2-kHz octave band for 40 h continuously. Behavioral audiograms were measured throughout exposure and during a 1-month recovery period. Following recovery, the animals were sacrificed and their ears examined histologically. Monaural audiograms are presented showing initial and final TTS and PTS measured at the end of the recovery period. These are compared with complete cytocochleograms for each ear. Hair cell loss was generally restricted to the outer rows, and was reasonably well correlated with pattern of hearing loss. Some cell loss, including inner hair cells, was found in the extreme basal turn, usually without associated high-frequency hearing loss. The relationships between exposure frequency, hearing loss, and locus of cochlear pathology are discussed, as are changes in TTS during exposure.This investigation was supported by research grants NS-05077, NS-05065 and NS-12706 and by Program Project grant NS-05785 from the National Institutes of Health 相似文献
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Large gene complexes frequently use "specialized" DNA elements to ensure proper regulation of gene activities. The Promoter Targeting Sequence (PTS) from the Abdominal-B locus of the Drosophila Bithorax complex overcomes an insulator, and facilitates, yet restricts, distant enhancers to a single promoter. We found that this promoter-targeting activity is independent of an enhancer's tissue or temporal specificity, and can be remembered in all somatic cells in the absence of promoter activation. It requires an insulator for its establishment, but can be maintained by the PTS in the absence of an insulator. More importantly, the promoter-targeting activity can be remembered after the transgene is translocated to new chromosomal locations. These results suggest that promoter targeting is established independent of enhancer activity, and is maintained epigenetically throughout development and subsequent generations. 相似文献