5 research outputs found
Health vulnerability to heat stress in rural communities of the semi-arid regions of Maharashtra, India
Rural health infrastructure needs to be upgraded to effectively include heat stress related illnesses and to develop a health surveillance mechanism for monitoring heat-related morbidity and mortality. This policy brief highlights the risks and responses to heat stress in rural communities of the semi-arid region of Maharashtra. It identifies vulnerable groups as well as important factors that affect vulnerability to heat stress. Heat related symptoms (HRS) include: small blisters or pimples, dry mouth, fatigue, leg cramps, heavy sweating, intense thirst, rapid heartbeat, headache, leg swelling, paranoid feeling and swelling of face; and in more severe cases hallucinations, fainting and vomiting.UK Government’s Department for International Development (DfID)International Development Research Centre (IDRC
Using transformative scenario planning to think critically about the future of water in rural Jalna, India : second TPS report
Transformative Scenario Planning (TSP) is structured around the development and use of scenarios; it provides a framework and language for strategic dialogue within and across stakeholder groups. The Watershed Organization Trust (WOTR) applied this methodology in their engagement with multiple stakeholders in the water sector across Jalna district (Maharashtra, India). This report presents an overview of the proceedings of the second TSP workshop. The reflections that emerged on the crucial issue of ‘Water in Rural Jalna in 2030’ made all participants realise the urgency of addressing the problem. It also produced next steps.UK Government’s Department for International Development (DfID)Hindustan Unilever Foundation (HUF
Recommended from our members
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Phosphoinositides (PIs) are membrane phospholipids produced through the local activity of PI kinases and phosphatases that selectively add or remove phosphate groups from the inositol head group. PIs control membrane composition and play key roles in many cellular processes including actin dynamics, endosomal trafficking, autophagy, and nuclear functions. Mutations in phosphatidylinositol 4,5 bisphosphate [PI(4,5)P2] phosphatases cause a broad spectrum of neurodevelopmental disorders such as Lowe and Joubert syndromes and congenital muscular dystrophy with cataracts and intellectual disability, which are thus associated with increased levels of PI(4,5)P2. Here, we describe a neurodevelopmental disorder associated with an increase in the production of PI(4,5)P2 and with PI-signaling dysfunction. We identified three de novo heterozygous missense variants in PIP5K1C, which encodes an isoform of the phosphatidylinositol 4-phosphate 5-kinase (PIP5KIγ), in nine unrelated children exhibiting intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. We provide evidence that the PIP5K1C variants result in an increase of the endosomal PI(4,5)P2 pool, giving rise to ectopic recruitment of filamentous actin at early endosomes (EEs) that in turn causes dysfunction in EE trafficking. In addition, we generated an in vivo zebrafish model that recapitulates the disorder we describe with developmental defects affecting the forebrain, including the eyes, as well as craniofacial abnormalities, further demonstrating the pathogenic effect of the PIP5K1C variants.
We describe a neurodevelopmental disorder associated with de novo gain-of-function variants in PIP5KIγ kinase. The variants cause perturbed endosomal function resulting from increased production of phosphatidylinositol 4,5 bisphosphate and enhanced association of F-actin at endosomes. Moreover, mutant zebrafish larvae recapitulate the phenotypes observed in affected individuals from our cohort