Search results for "heterotopia"
showing 8 items of 8 documents
The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia
2018
Symposium issue: Human Cortex Developmentidentifiant wos: 000482426800014; International audience; The cerebral cortex is a highly organized structure responsible for advanced cognitive functions. Its development relies on a series of steps including neural progenitor cell proliferation, neuronal migration, axonal outgrowth and brain wiring. Disruption of these steps leads to cortical malformations, often associated with intellectual disability and epilepsy. We have generated a new resource to shed further light on subcortical heterotopia, a malformation characterized by abnormal neuronal position. We describe here the generation and characterization of a knockout (KO) mouse model for Eml1,…
Bilateral cystic pulmonary glial heterotopia and palatinal teratoma causing respiratory distress in an infant
2009
We report on a male infant with extensive, bilateral cystic and solid lung lesions who presented postnatally with respiratory distress caused by bilateral cystic lung lesions. Parenchyma-sparing resections were performed. Histology revealed the presence of neuroglial cell-lined cysts and glial nodules. In addition, a neural element containing palatinal teratoma was detected and excised. Based on previously published cases, the pathogenesis and clinical features of pulmonary neuroglial heterotopia are discussed.
Nine Rules of Engagement: Reflections on Reflexivity
2019
Wishing to be reflexive, to critically examine our assumptions, is easy. Doing it is less so. For researchers doing a study in their own professional field, it represents a particular challenge. In this essay, I explore this challenge using my own study as exemplar. I am researching workplace inclusion of workers with intellectual disability. As a professional, I have worked with and for people with intellectual disability for many years. The knowledge I bring to my inquiry – about the inabilities, vulnerabilities and needs ascribed to persons labelled thus – is deeply entrenched in common culture, as well as in my professional training. How can I handle this knowledge in my research? To wh…
Spontaneous Epileptic Manifestations in a DCX Knockdown Model of Human Double Cortex
2010
Previous reports indicate that in utero knockdown of doublecortin (DCX) results in the genesis of a subcortical heterotopia reminiscent of the doublecortex observed in female patients with DCX mutations. It has also been shown that these rats display an increased susceptibility to convulsant agents and increased cortical neurons excitability; but it is presently unknown whether they display spontaneous seizures. Furthermore, the link between the size of heterotopia and the clinical manifestation remained to be elucidated. Using video--electrocorticogram recordings, we now report that DCX knockdown induces frequent spontaneous seizures commonly associated with myoclonic jerks in adult rats. …
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review
2019
Abstract Background Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. Case presentation We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present. Conclusions We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disord…
Future urban utopias
2018
The main issues, through the scenario of urban utopias, concern the forms of the city of the future, and mainly the relationship between nature and artifice in the urban context stressing a second theme, the contamination. From here some questions were developed: what are the possible integrations of innovative forms of use of nature in the contemporary city? What could be the potential sustainable landscapes to be designed for the future of our cities?
Koteja ja kodinomaisuutta : tutkimus vanhenemisen paikoista valtiopäiväpuheissa 1950-2005
2010
The New Media and Heterotopic Technologies in the Philippines
2008
Information overload is perhaps the most common frustration of our age. It strikes everyone: young and old, educated and uneducated, rich and poor, first world and third world. Human communication has taken on the qualities of the supernatural. Indeed it has surpassed it! Zeus could only rely on Mercury’s speed to convey his commands; presently electronic messages zip around the globe and the universe at the speed of light. No wonder that new communication technologies often evoke notions of the supernatural. This paper deals with some of the unexpected effects of the new communication technologies, in particular for mobile phones. While the mobile has become the icon of connectedness, it a…