4 research outputs found
My Lockdown Escape: Sparking Self-Empathy in the Context of the Covid-19 Pandemic
During the Covid-19 pandemic, research communities focused on collecting and
understanding people's behaviours and feelings to study and tackle the pandemic
indirect effects. Despite its consequences are slowly starting to fade away,
such an interest is still alive. In this article, we propose a hybrid,
gamified, story-driven data collection approach to spark self-empathy, hence
resurfacing people's past feelings. The game is designed to include a physical
board, decks of cards, and a digital application. As the player plays through
the game, they customize and escape from their lockdown room by completing
statements and answering a series of questions that define their story. The
decoration of the lockdown room and the storytelling-driven approach are
targeted at sparking people's emotions and self-empathy towards their past
selves. Ultimately, the proposed approach was proven effective in sparking and
collecting feelings, while a few improvements are still necessary
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation
Monoallelic mutations on TMEM63A have been recently reported as cause of a previously unrecognized disorder named "infantile-onset transient hypomyelination". Clinical and neuroradiological presentation is described as highly similar to Pelizaeus-Merzbacher Disease but evolution over time was surprisingly benign with a progressive spontaneous improving course. We report on a new TMEM63A-mutated girl. The clinical picture was similar to the one already described except for the presence of recurrent episodes of unilateral eyelid twitching, and for the evidence of spinal cord involvement on MRI. These are interesting findings helping in distinguishing this condition from classic PMD since early disease stages. However, additional observations are needed to confirm if these are common features of this condition
Corpus callosum abnormalities: neuroimaging, cytogenetics and clinical characterization of a very large multicenter Italian series
Corpus callosum abnormalities (CCA) have an estimated prevalence
ranging from 0.3% up to 0.7% in patients undergoing brain imaging.
CCA can be identified incidentally, or can be part of a developmental
disease. We performed a retrospective study of 551 patients, identified
non-syndromic (NS) CCA and syndromic (S) CCA, reviewing clinical features,
neuroradiological aspects, genetic etiology, and chromosomal
microarray (CMA) results. Syndromic CCA subjects were prevalent
(60%) and they showed the most severe clinical features. Cortical malformations
and cerebellar anomalies were 23% of cerebral malformation
associated to CCA (plus), 23 and 14% respectively in syndromic forms. A clinical and/or genetic diagnosis was obtained in 37% of
syndromic CCA including chromosomal rearrangements on high-resolution
karyotype (18%), microdeletion/microduplication syndromes
(31%) and monogenic diseases (51%). Non-syndromic CCA anomalies
had mildest clinical features, although intellectual disability was present
in 49% of cases and epilepsy in 13%. CMA diagnostic rate in our
cohort of patients ranged from 11 to 23% (NS to S). A high percentage
of patients (76% 422/551) remain without a diagnosis. Combined high
resolution CMA studies and next-generation sequencing (NGS) strategies
will increase the probability to identify new causative genes of
CCA and to redefine genotype–phenotype correlation
Digital Modernism Heritage Lexicon
The book investigates the theme of Modernism (1920-1960 and its epigones) as an integral part of tangible and intangible cultural heritage which contains the result of a whole range of disciplines whose aim is to identify, document and preserve the memory of the past and the value of the future. Including several chapters, it contains research results relating to cultural heritage, more specifically Modernism, and current digital technologies. This makes it possible to record and evaluate the changes that both undergo: the first one, from a material point of view, the second one from the research point of view, which integrates the traditional approach with an innovative one. The purpose of the publication is to show the most recent studies on the modernist lexicon 100 years after its birth, moving through different fields of cultural heritage: from different forms of art to architecture, from design to engineering, from literature to history, representation and restoration. The book appeals to scholars and professionals who are involved in the process of understanding, reading and comprehension the transformation that the places have undergone within the period under examination. It will certainly foster the international exchange of knowledge that characterized Modernism