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排序方式: 共有2124条查询结果,搜索用时 15 毫秒
71.
Livia Bernardi Chiara Cupidi Francesca Frangipane Maria Anfossi Maura GalloMaria Elena Conidi Franca VassoRosanna Colao Gianfranco PuccioSabrina A.M. Curcio Maria MirabelliAlessandra Clodomiro Raffaele Di LorenzoNicoletta Smirne Raffaele MalettaAmalia C. Bruni 《Neurobiology of aging》2014
Prion protein gene mutations have been associated with clinical pictures mimicking neurodegenerative diseases different from inherited prion diseases (IPD). We report a novel missense P39L mutation in the N-terminal domain of prion protein in 2 patients affected by frontotemporal lobar degeneration syndrome, negative for mutations in genes causative of dementia. Neither the first carrier, a 67-year-old male in which the onset was a progressive non-fluent aphasia, nor the second carrier, a 78-year-old male affected by frontotemporal dementia and parkinsonism, showed any clinical or instrumental findings suggestive of IPD. Genetic screening of healthy controls and in silico analysis provide support for the potential pathogenicity of this variant. Patient phenotypes, unclassifiable as prion disease, may depend on the location of the mutation in the N-terminal domain, outside the amyloid core of pathologic prion protein, although further functional studies are required to determine whether and how this mutation exerts its pathogenic effect. However, genetic screening of prion protein gene becomes relevant in familial degenerative dementia, particularly in geographical areas with high IPD prevalence. 相似文献
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73.
Maura Mitrushina Charles Drebing Paul Satz Wilfred van Gorp Alexander Chervinsky Craig Uchiyama 《Journal of clinical psychology》1994,50(5):753-758
This study explored the relationship between three indices of intersubtest scatter and level of cognitive deterioration in a sample of 104 patients with dementia of Alzheimer's type, who ranged in age between 52 and 84 years. Scatter was highly related to education and premorbid level of functioning. Advancement of dementia was shown to be associated with decrease in scatter, which suggests caution in interpretation of high magnitude of intersubtest scatter as an indication of brain dysfunction. Easy-to-calculate range of scatter proved to be adequate measure of scatter. Calculation of more complex indices, such as PVI, provides only minimal incremental gain. 相似文献
74.
Maura Mitrushina Charles Drebing Craig Uchiyama Paul Satz Wilfred van Gorp Alexander Chervinsky 《Journal of clinical psychology》1994,50(4):591-596
The study explored differential patterns of deficits in different memory components as a function of dementia severity. Three groups of 58 subjects each were used: (1) highly functioning elderly who are free of neurological or psychiatric symptoms; (2) individuals with early signs of memory disturbance, whose MMSE scores were ≧24; and (3) individuals with MMSE scores below 24, who meet criteria for DAT. Performance on the tests that assess different memory components was compared for the three groups. Results suggest pronounced change in acquisition component of memory at the onset of dementia, whereas retrieval from remote memory discriminates well between the mild and the more advanced phases of the disease. Retrieval from recent memory deteriorates more gradually. Based on these results, efficiency of different memory mechanisms was discussed. 相似文献
75.
Susanna Zanutto Chiara Maura Ciniselli Antonino Belfiore Mara Lecchi Enzo Masci Gabriele Delconte Massimo Primignani Giulia Tosetti Marco Dal Fante Linda Fazzini Aldo Airoldi Marcello Vangeli Francesca Turpini Giovanni Giuseppe Rubis Passoni Paolo Viaggi Monica Arena Roberta Ilaria Olimpia Motta Anna Maria Cantù Cristiano Crosta Giuseppe De Roberto Francesca Iannuzzi Andrea Cassinotti Valentina Dall'Olio Laura Tizzoni Gabriella Sozzi Emanuele Meroni Luigi Bisanti Marco Alessandro Pierotti Paolo Verderio Manuela Gariboldi 《International journal of cancer. Journal international du cancer》2020,146(4):1164-1173
Colorectal cancer (CRC) screening programs help diagnose cancer precursors and early cancers and help reduce CRC mortality. However, currently recommended tests, the fecal immunochemical test (FIT) and colonoscopy, have low uptake. There is therefore a pressing need for screening strategies that are minimally invasive and consequently more acceptable to patients, most likely blood based, to increase early CRC identification. MicroRNAs (miRNAs) released from cancer cells are detectable in plasma in a remarkably stable form, making them ideal cancer biomarkers. Using plasma samples from FIT-positive (FIT+) subjects in an Italian CRC screening program, we aimed to identify plasma circulating miRNAs that detect early CRC. miRNAs were initially investigated by quantitative real-time PCR in plasma from 60 FIT+ subjects undergoing colonoscopy at Fondazione IRCCS Istituto Nazionale dei Tumori, then tested on an internal validation cohort (IVC, 201 cases) and finally in a large multicenter prospective series (external validation cohort [EVC], 1121 cases). For each endoscopic lesion (low-grade adenoma [LgA], high-grade adenoma [HgA], cancer lesion [CL]), specific signatures were identified in the IVC and confirmed on the EVC. A two-miRNA-based signature for CL and six-miRNA signatures for LgA and HgA were selected. In a multivariate analysis including sex and age at blood collection, the areas under the receiver operating characteristic curve (95% confidence interval) of the signatures were 0.644 (0.607–0.682), 0.670 (0.626–0.714) and 0.682 (0.580–0.785) for LgA, HgA and CL, respectively. A miRNA-based test could be introduced into the FIT+ workflow of CRC screening programs so as to schedule colonoscopies only for subjects likely to benefit most. 相似文献
76.
Nicastro Nicolas Rodriguez Patricia Vazquez Malpetti Maura Bevan-Jones William Richard Simon Jones P. Passamonti Luca Aigbirhio Franklin I. O’Brien John T. Rowe James B. 《Journal of neurology》2020,267(2):341-349
Journal of Neurology - Progressive supranuclear palsy (PSP) is characterized by deposition of straight filament tau aggregates in the grey matter (GM) of deep nuclei and cerebellum. We examined the... 相似文献
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78.
Joshi Gagan DiSalvo Maura Faraone Stephen V. Wozniak Janet Fried Ronna Galdo Maribel Belser Abigail Hoskova Barbora Dallenbach Nina T. De Leon Melissa F. Biederman Joseph 《European child & adolescent psychiatry》2020,29(6):791-801
European Child & Adolescent Psychiatry - The objective of this study was to investigate the stability and predictive utility of autistic traits (ATs) in youth with... 相似文献
79.
Remote microphone systems for preschool-age children who are hard of hearing: access and utilization
Elizabeth A. Walker Maura Curran Meredith Spratford Patricia Roush 《International journal of audiology》2019,58(4):200-207
Objectives: Children who are hard of hearing (CHH) have restricted access to auditory-linguistic information. Remote-microphone (RM) systems reduce the negative consequences of limited auditory access. The purpose of this study was to characterise receipt and use of RM systems in young CHH in home and school settings.Design: Through a combination of parent, teacher, and audiologist report, we identified children who received RM systems for home and/or school use by 4?years of age or younger. With cross-sectional surveys, parents estimated the amount of time the child used RM systems at home and school per day.Study Sample: The participants included 217 CHH.Results: Thirty-six percent of the children had personal RMs for home use and 50% had RM systems for school. Approximately, half of the parents reported that their children used RM systems for home use for 1–2?hours per use and RM systems for school use for 2-4?hours per day.Conclusions: Results indicated that the majority of the CHH in the current study did not receive RM systems for home use in early childhood, but half had access to RM technology in the educational setting. High-quality research studies are needed to determine ways in which RM systems benefit pre-school-age CHH. 相似文献
80.