174,318 research outputs found
Spontaneous and cued gaze-following in autism and Williams syndrome
No full textBackground: From a young age the typical development of social functioning relies upon the allocation of attention to socially relevant information, which in turn allows experience at processing such information and thus enhances social cognition. As such, research has attempted to identify the developmental processes that are derailed in some neuro-developmental disorders that impact upon social functioning. Williams syndrome (WS) and Autism are disorders of development that are characterized by atypical yet divergent social phenotypes and atypicalities of attention to people. Methods: We used eye tracking to explore how individuals with WS and Autism attended to, and subsequently interpreted, an actor’s eye gaze cue within a social scene. Images were presented for three seconds, initially with an instruction simply to look at the picture. The images were then shown again, with the participant asked to identify the object being looked at. Allocation of eye-gaze in each condition was analyzed by ANOVA and accuracy of identification was compared with t-tests. Results: Participants with WS allocated more gaze time to face and eyes than their matched controls both with and without being asked to identify the item being looked at; while participants with Autism spent less time on face and eyes in both conditions. When cued to follow gaze, participants with WS increased gaze to the correct targets, while those with Autism looked more at the face and eyes but did not increase gaze to the correct targets, while continuing to look much more than their controls at implausible targets. Both groups identified fewer objects than their controls. Conclusions: The atypicalities found are likely to be entwined with the deficits shown in interpreting social cognitive cues from the images. WS and Autism are characterised by atypicalities of social attention that impact upon socio-cognitive expertise but importantly the type of atypicality is syndrome-specific
Williams–Beuren-szindróma (Williams-szindróma) | Williams–Beuren syndrome (Williams syndrome). Case report
No full textAbsztrakt:
A Williams–Beuren-szindróma minden etnikumban és nemben azonos gyakorisággal
előforduló veleszületett genetikai betegség. Felismerése a mentális retardáció
okának tisztázásán kívül azért is fontos, mert cardiovascularis,
endokrinológiai, pszichiátriai, urológiai és egyéb betegségek bármely életkorban
történő megjelenését okozhatja. A közlemény egy középkorú nő esetét mutatja be,
akit gasztroenterológiai kórkép miatt hospitalizáltak. Klinikai észlelése során
a típusos megjelenés, mentális retardáció, viselkedésmintázata alapján felmerült
a Williams-szindróma gyanúja, amelyet később igazolni sikerült. Tudomásunk
szerint ez a nőbeteg most Magyarországon a legidősebb, igazolt
Williams-szindrómával élő páciens. Orv Hetil. 2017; 158(47): 1883–1888.
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Abstract:
Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic
groups and both sexes. The diagnosis might be missed during childhood in mild
cases. However, establishing the diagnosis is important, not only to find the
cause of intellectual disability but to look for cardiovascular, endocrine,
psychiatry, urology and other conditions, which can occur at any age in the
patients’ lifetime. This case report presents the story of 47-year-old woman,
who was admitted with haematemesis. During her stay on the ward, in the light of
the distinctive facial features, mental retardation, and social behaviour
patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was
confirmed by genetic analysis. This female is the oldest living patient with
Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883–1888
Cultura, cidadania e as massas: Raymond Williams e os intelectuais de Nova York
No full textEste artigo discute a centralidade do conceito de massa para pensarmos Raymond Williams e uma tradição de intelectuais ocupados com essa problemática, bem como a importância de se discutir “as massas” como consequência e crise dos nossos dias. O balanço teórico aqui exposto traz registros inéditos relacionando Raymond Williams, Hannah Arendt e outros autores, além de apresentar a ênfase que Williams deu ao debate sobre as manifestações totalitárias atreladas a governos supostamente defensores da cultura, cidadania e democracia
Echocardiographic findings in patients with Williams-Beuren syndrome.
No full textBACKGROUND: Williams-Beuren syndrome is a multisystem developmental disorder
caused by a microdeletion at chromosome 7q11.23. In its classic form it includes
dysmorphic facial features, joint contractures, retardation of growth and mental
development, gregarious personality, visuospatial cognitive deficits,
hypercalcemia, primary or secondary hypertension and cardiovascular disorders.
AIM: Clinical diagnosis of Williams-Beuren syndrome can be a challenge in young
patients if none of the characteristic cardiovascular features, i.e.
supravalvular aortic stenosis or pulmonary artery stenosis, are present. Our aim
was to demonstrate the changes in cardiovascular lesions during the postnatal
development of Williams-Beuren patients and to follow all cardiovascular findings
beyond the most common ones. METHODS: The cardiovascular status of 29 patients
with Williams-Beuren syndrome (mean age 12.8 years) was recorded in correlation
with age. RESULTS: Cardiovascular diagnoses changed in the majority (72.4%) of
patients. Interestingly, 44.8% of the patients had periods with no reported
cardiovascular disease. Furthermore, 65.5% of the patients experienced periods
when none of the typical cardiovascular lesions, i.e. diffuse or localized
supravalvular aortic stenosis and/or pulmonary artery stenosis, were detected.
Spontaneous regression and progression of both supravalvular aortic stenosis and
pulmonary artery stenosis were observed. An unexpectedly high frequency (41%) of
mitral valve disorders was found. CONCLUSIONS: Our study showed that temporary
absence of and changes in cardiovascular findings are frequent in Williams-Beuren
syndrome. These results could contribute to the refinement of diagnostic criteria
and recommendations for cardiovascular follow-up of patients with this syndrome
Amancio Williams, obras y textos
No full textSon muchos los estudiantes universitarios, de grado o de posgrado, provenientes de universidades y escuelas de todo el mundo, que se acercan al Archivo Williams solicitando información sobre la obra de AW en general, y también sobre temas específicos en particular.
Curiosamente, a casi todos les interesa además abundar sobre dos aspectos de su personalidad que les llama la atención. Uno, sobre sus procesos de diseño y el otro sobre la fuerte presencia de la tecnología en toda su obra.Facultad de Arquitectura y Urbanism
Amancio Williams, obras y textos
No full textSon muchos los estudiantes universitarios, de grado o de posgrado, provenientes de universidades y escuelas de todo el mundo, que se acercan al Archivo Williams solicitando información sobre la obra de AW en general, y también sobre temas específicos en particular.
Curiosamente, a casi todos les interesa además abundar sobre dos aspectos de su personalidad que les llama la atención. Uno, sobre sus procesos de diseño y el otro sobre la fuerte presencia de la tecnología en toda su obra.Facultad de Arquitectura y Urbanism
O CONCEITO DE CULTURA EM RAYMOND WILLIAMS
No full textEste artigo apresenta, de forma simples e didática, a inestimável contribuição do pensador britânico Raymond Williams (1921-1988) para os desenvolvimentos da teoria cultural contemporânea. Expõe-se, em particular, a trajetória do autor galês na definição de um dos mais complexos conceitos das humanidades: a ideia de cultura. Apresenta-se, em primeiro momento, o autor, seu contexto e sua obra, indicando sumariamente suas principais contribuições teórico-metodológicas na análise dos processos culturais. Em seguida aborda-se a trajetória intelectual de Williams, mostrando a evolução de seu pensamento sobre o conceito de cultura e a maneira como constrói uma definição inovadora, a qual se encontra na base do moderno campo disciplinar conhecido como estudos culturais. Palavras-chave: Cultura. Materialismo. Totalidade social. Estudos culturais. Raymond Williams. RAYMOND WILLIAMS’ CONCEPT OF CULTUREABSTRACT: This article describes, clearly and simply, the invaluable contribution of British thinker Raymond Williams (1921-1988) to the developments of contemporary cultural theory. In particular, it sets out the intellectual trajectory of the Welsh author in the definition of one of the most complex concepts of the humanities: the idea of culture. The article begins by presenting an overview of the author, his context and his work, with a short summary of his main theoretical and methodological contributions to the analysis of cultural processes. It then goes on to describe Williams’ intellectual trajectory, showing the evolution of his thought in relation to the concept of culture, and also the way in whichhe constructed an innovative definition, which now forms the basis of the modern disciplinary field we call cultural studies.Keywords: Culture. Materialism. Social totality. Cultural studies. Raymond Williams
Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients
No full textBackground
Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive.
Methods
We report on visuospatial cognition in two individuals with contrasting partial deletions in the WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted.
Results
Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB’s atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion.
Conclusions
Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed
<i>No se sabe</i>: entrevista a Lucas Gagliardi
No full textEntrevista al Licenciado y Profesor en Letras (UNLP) Lucas Gagliardi. Se especializa en literatura en lengua inglesa y en crítica genética. Se desempeña como profesor en la Universidad Pedagógica (UNIPE), en institutos de formación docente y escuelas secundarias. Ha participado en proyectos de investigación sobre archivos de escritores, publicaciones impresas. Participa en el programa de voluntariado universitario de la Facultad de Trabajo Social (UNLP) en articulación con la Biblioteca Ambulante del Hospital de Niños dictando talleres de lectura y escritura.Al hacer clic en el enlace que figura en "Documentos relacionados", pueden accederse a todos los trabajos de Lucas Gagliardi presentes en el repositorio.Radio Universidad Nacional de La Plat
Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1.
No full textWilliams syndrome is caused by the deletion of 26 to 28 genes, including elastin, on human chromosome 7. Elastin insufficiency leads to the cardiovascular hallmarks of this condition, namely focal stenosis and hypertension. Extrapolation from the Eln+/- mouse suggests that affected people may also have stiff vasculature, a risk factor for stroke, myocardial infarction, and cardiac death. NCF1, one of the variably deleted Williams genes, is a component of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex and is involved in the generation of oxidative stress, making it an interesting candidate modifier for vascular stiffness. Using a case-control design, vascular stiffness was evaluated by pulse wave velocity in 77 Williams cases and matched controls. Cases had stiffer conducting vessels than controls (P<0.001), with increased stiffness observed in even the youngest children with Williams syndrome. Pulse wave velocity increased with age at comparable rates in cases and controls, and although the degree of vascular stiffness varied, it was seen in both hypertensive and normotensive Williams participants. Use of antihypertensive medication and extension of the Williams deletion to include NCF1 were associated with protection from vascular stiffness. These findings demonstrate that vascular stiffness is a primary vascular phenotype in Williams syndrome and that treatment with antihypertensives or agents inhibiting oxidative stress may be important in managing patients with this condition, potentially even those who are not overtly hypertensive
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