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The Potentialities of the Expressive and Gestual Language

Journal of Health Science 2016年第3期4卷 160-165页

作者： Giuliana de rosa Caterina Francone guglielmo de rosa Patrizia Bruno Educator A.M.N.E.S.LA. Villaricca Corso Italia 395 Napoli Italia Psychologist-A.M.N.E.S.I.A. Villaricea Corso Italia 395 Napoli Italia Geriatrician-UVA DS 35-37ASL NA2Nord Pozzuoli Via Corrado Alvaro 7 Napoli Italia

The aim of this work is to integrate the Educative intervention to Scientific research in support of the biological, psychological, social and economic discomfort of the Person affected by cognitive deficit. The specific objective is to stimulate the retained cognitive, emotive and motor abilities, educating to the theatricality through the establishment of a theatrical laboratory. Our experience was conducted with a group of elderly people affected by neuro-geriatric pathologies with medium-high cognitive decay. The encounters took place in the home of one of the members of the group. Fundamental was the actualisation of the process of individual and collective empowerment. They started with social activities and viewings of film scenes with Charlie Chaplin, actor to be observed, picked by the activities＇ participants. Finally, there was a re-enacting of a ＂wordless＂ scene through the reading of simple sentences to express in sign language. The parameters taken into consideration during the qualitative analysis are： attention, learning, expressivity and motor capabilities, measured at every encounter through a Likert scale of evaluation created ad hoc, directly proportional to the level of adequacy of the single ability. In conclusion, the maximum of scored points manifested itself in the attention and expressivity items.

关键词： Cognitive discomfort communicability theatre emotions mnemonic stimuli empowerment.

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SRY in an XX male does not influence random chromosome X inactivation: Cytogenetic evidence. definition of the boundaries of the translocated Y segment through FISH and PCR-RT in a case report and review of the literature

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Open Journal of Genetics 2013年第2期3卷 27-32页

作者： Mariano Stabile Vincenzo Altieri rosa Salzillo Panfilo Marrollo guglielmo Stabile Tina Iuorio Bianca Moscato “Zigote” Genetic and Prenatal Diagnosis Centre Salerno Italy department of Obstetrics and Gynecology IRCCS Burlo Garofalo University of Trieste Trieste Italy Genetic department Hosp. “Elena d’Aosta” Naples Italy

We report a case of an SRY positive XX male. The phenotype was completely masculinised except for the reduced facial hair;testes were small, and azoospermia was present. The patient’s metaphases, coloured with acridine-orange to reveal the late replicating X chromosome, were sequentially hybridised with SRY and X centromeric probes: a random X chromosome inactivation pattern (XCIP) was present, with SRY present about half the time on both the active X and the inactive X. The most likely hypothesis is that the translocated SRY gene escaped inactivation as part of the entire X Pseudo Autosomal telomeric Region 1 (PAR 1). This hypothesis can explain the masculine phenotype, which would be incompatible with a halved expression of SRY. Review of the literature about the association of 46, XX males with a specific XCI pattern is made. The analysis of region AZF and QF-PCR for Y polymorphic loci allowed us to define the boundaries of the translocated Y segment as restricted to the region around the SRY locus. Chromosomal fragility analysis, using SCE (Sister Chromatid Exchanges), ruled out chromosomal fragility as a predisposing factor in the proband’s father;in addition, no chromosome Y polymorphic variant (inversion, Y qh +/﹣), was present in the proband’s father. However, like the AZF region c microdeletions and PRKX/PRKY translocation XX males, a particular Y haplotype could be also in this case a predisposing factor.

关键词： XX Male SRY Translocation X-Y X Chromosome Inactivation Y Chromosome

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