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Yanoov-Sharav M Leshinsky-Silver E Cohen S Vinkler C Michelson M Lerman-Sagie T Ginzberg M Sadeh M Lev D 《Journal of genetic counseling》2012,21(4):557-563
Facioscapulohumeral muscular dystrophy (FSHD), is a dominantly inherited, late onset, progressive disease. At present, no treatment or prevention of symptoms are available. There is considerable clinical variability, even within families. The gene whose defect causes FSHD has not been identified, but molecular diagnosis can be made by analyzing D4Z4 repeat length on chromosome 4q35. The results can support or rule out the clinical diagnosis of FSHD, but there are also "gray zone", non-conclusive results. During the years 2000-6, 66 individuals (including 7 asymptomatic individuals), were tested in our institute for D4Z4 repeat number. In 77% of the cases the results were conclusive: two thirds of them supported a diagnosis of FSHD while in a third this diagnosis was ruled out. In 23% the results were in the gray zone. Cognitive involvement was rare, occurring only when the D4Z4 repeat size was very small (<15 kb). Maximal utilization of the existing molecular test for FSHD demands detailed clinical and family pedigree information. We recommend that comprehensive genetic counseling always be given before and after molecular testing for FSHD, in addition to the neurological follow-up. Presymptomatic testing should only be offered when complete molecular evaluation can be offered, including 4qA and 4qB variant analysis. 相似文献
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Cross-language lexical connections in the mental lexicon: evidence from a case of trilingual aphasia
Despite anecdotal data on lexical interference among the languages of multilingual speakers, little research evidence about the lexical connections among multilinguals' languages exists to date. In the present paper, two experiments with a multilingual speaker who had suffered aphasia are reported. The first experiment provides data about inter-language activation during natural conversations; the second experiment examines performance on a word-translation task. Asymmetric patterns of inter-language interference and translation are evident. These patterns are influenced by age of language learning, degree of language recovery and use, and prevalence of shared lexical items. We conclude that whereas age of language learning plays a role in language recovery following aphasia, the degrees of language use prior to the aphasia onset and of shared vocabulary determine the ease with which words are accessed. The findings emphasize the importance of patterns of language use and the relations between the language pair under investigation in understanding lexical connections among languages in bilinguals and multilinguals. 相似文献
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The Multidimensional Acculturative Stress Inventory (MASI), a 36-item stress measure that was developed to assess acculturative stress among persons of Mexican origin living in the United States, was tested on a community sample of 174 adults (117 women, 57 men). Principal-components analyses yielded 4 stable and internally consistent factors: Spanish Competency Pressures (7 items), English Competency Pressures (7 items), Pressure to Acculturate (7 items), and Pressure Against Acculturation (4 items). These 4 factors accounted for 64.4% of the variance and correlated in the expected directions with criterion measures of acculturation and/or psychological adjustment. Further reliability and validity testing of the MASI is discussed as well as the utility of this measure in assessing acculturative stress among adults of Mexican origin. 相似文献
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Brini Stefano Sohrabi Hamid R. Hebert Jeffrey J. Forrest Mitchell R. L. Laine Matti Hämäläinen Heikki Karrasch Mira Peiffer Jeremiah J. Martins Ralph N. Fairchild Timothy J. 《Neuropsychology review》2020,30(1):25-27
Neuropsychology Review - The original version of this article unfortunately contained the following mistakes. 相似文献
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This study examined the associations of perceived threat, perceived efficacy, and parent–child communication with the extent to which college‐age women received the human papillomavirus (HPV) vaccine. Daughters and their mothers completed a survey about the HPV vaccine (N = 182 dyads). The results showed that mothers' perceived self‐efficacy to talk to their daughters and mothers' response efficacy of the vaccine were indirectly related to mother–daughter communication about HPV. Further, mother–daughter communication mediated the relation between mothers' intention to talk to their daughters and daughters' HPV vaccination behavior. This study demonstrates the importance of the social context of health behavior and the role of communication in understanding maternal influence on the HPV vaccination behavior of young adult women. 相似文献
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J. J. Mira 《Estudios de Psicología》2013,34(42):99-113
ResumenDentro de las investigaciones sobre psicología del testimonio destaca, por el volumen de trabajos, el área de la identificación de personas. En este artículo se pretende dar una visión global de los diferentes procedimientos de identificarón, aportando datos para juzgar su utilidad cuando son empleados por testigos para reconocer o recordar a una persona. Se sugiere que los errores de los testigos pueden ser interpretados al entender el funcionamiento de la memoria más como reconstrucción que como reproducción de sucesos, sugiriéndose como más conveniente para la interpretarán de los datos actuales la teoría de conocimiento social de Nisbett y Ross (1980). Se aporta, también, una extensa bibliografía sobre este tema. 相似文献