39 research outputs found
dOCRL maintains immune cell quiescence in Drosophila by regulating endosomal traffic
Lowe Syndrome is a developmental disorder characterized by eye, kidney, and neurological pathologies, and is caused by mutations in the phosphatidylinositol-5-phosphatase OCRL. OCRL plays diverse roles in endocytic and endolysosomal trafficking, cytokinesis, and ciliogenesis, but it is unclear which of these cellular functions underlie specific patient symptoms. Here, we show that mutation of Drosophila OCRL causes cell-autonomous activation of hemocytes, which are macrophage-like cells of the innate immune system. Among many cell biological defects that we identified in docrl mutant hemocytes, we pinpointed the cause of innate immune cell activation to reduced Rab11-dependent recycling traffic and concomitantly increased Rab7-dependent late endosome traffic. Loss of docrl amplifies multiple immune-relevant signals, including Toll, Jun kinase, and STAT, and leads to Rab11-sensitive mis-sorting and excessive secretion of the Toll ligand SpĂĄtzle. Thus, docrl regulation of endosomal traffic maintains hemocytes in a poised, but quiescent state, suggesting mechanisms by which endosomal misregulation of signaling may contribute to symptoms of Lowe syndrome
Puffy - An inflatable robotic companion for pre-schoolers
Puffy is a learning and playful robotic companion for pre-school children. Designed in cooperation with a team of educators and inspired by Disney's Baymax, Puffy has a combination of features which makes it unique with respect to existing robots used in educational contexts. It is mobile and has an egg-shaped inflatable and soft body; it supports multimodal interaction, reacting to children's gestures and movements, facial expressions and emotions, and communicates using voice, lights, movements in space, and inside-out projections on its body. The paper describes the design of Puffy and discusses an exploratory study that has involved 79 children aged 4-5 at a local pre-school to investigate the Likeability of the robot and how much children enjoyed, engaged to and remembered some specific design features and play activities
Connexin 30 controls the extension of astrocytic processes into the synaptic cleft through an unconventional non-channel function
Elevated prenatal anti-MĂĽllerian hormone reprograms the fetus and induces polycystic ovary syndrome in adulthood
Polycystic ovary syndrome (PCOS) is the main cause of female infertility worldwide and corresponds with a high degree of comorbidities and economic burden. How PCOS is passed on from one generation to the next is not clear, but it may be a developmental condition. Most women with PCOS exhibit higher levels of circulating luteinizing hormone, suggestive of heightened gonadotropin-releasing hormone (GnRH) release, and anti-MĂĽllerian hormone (AMH) as compared to healthy women. Excess AMH in utero may affect the development of the female fetus. However, as AMH levels drop during pregnancy in women with normal fertility, it was unclear whether their levels were also elevated in pregnant women with PCOS. Here we measured AMH in a cohort of pregnant women with PCOS and control pregnant women and found that AMH is significantly more elevated in the former group versus the latter. To determine whether the elevation of AMH during pregnancy in women with PCOS is a bystander effect or a driver of the condition in the offspring, we modeled our clinical findings by treating pregnant mice with AMH and followed the neuroendocrine phenotype of their female progeny postnatally. This treatment resulted in maternal neuroendocrine-driven testosterone excess and diminished placental metabolism of testosterone to estradiol, resulting in a masculinization of the exposed female fetus and a PCOS-like reproductive and neuroendocrine phenotype in adulthood. We found that the affected females had persistently hyperactivated GnRH neurons and that GnRH antagonist treatment in the adult female offspring restored their neuroendocrine phenotype to a normal state. These findings highlight a critical role for excess prenatal AMH exposure and subsequent aberrant GnRH receptor signaling in the neuroendocrine dysfunctions of PCOS, while offering a new potential therapeutic avenue to treat the condition during adulthood
What children with neuromotor disabilities need to play with technological games
Game activity is fundamental for children’s cognitive and social development. During recent years, technology development has led to changes in several areas, including the ludic one. However, while in the literature, there are plenty of studies that report the importance of technology-based games in rehabilitation program, little attention has been paid to their role as pure entertainment. In contrast, the market does not provide videogames that are engaging, accessible, and inclusive. In this context, a survey was distributed to families who have a child with neuromotor limitations to investigate how these children deal with play, in particular with videogames, and what the requirements are for accessible and inclusive videogames. FightTheStroke distributed the questionnaire to families with a child with neuromotor impairments in April 2020. Fifty-six families responded to the survey. The answers revealed that children generally manifest positive feelings when playing with videogames, especially with cooperative ones, even if they are not fully accessible. The survey also collected user needs and suggestions from families about the design of videogames for neuromotor-impaired children. Guidelines derived from the survey are reported for the development of entertaining, inclusive, and accessible videogames, playable by children with neuromotor disabilities