The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary genes were observed in diseases related to VATER/VACTERL, we performed targeted re-sequencing of 25 ciliary candidate genes as well as disease-associated genes (FOXF1, HOXD13, PTEN, ZIC3) in 123 patients with VATER/VACTERL or VATER/VACTERL-like phenotype. We detected no biallelic mutation in any of the 25 ciliary candidate genes however, identified an identical, probably disease-causing ZIC3 missense mutation (p.Gly17Cys) in four patients and a FOXF1 de novo mutation (p.Gly220Cys) in a further patient. In situ hybridization analyses in mouse embryos between E9.5 and E14.5 revealed Zic3 expression in limb and prevertebral structures, and Foxf1 expression in esophageal, tracheal, vertebral, anal, and genital tubercle tissues, hence VATER/VACTERL organ systems. These data provide strong evidence that mutations in ZIC3 or FOXF1 contribute to VATER/VACTERL.
The affairs and concerns relating to the energy sector are versatile, spatially differentiated, and dynamic, due to the determining importance of energy in the everyday life of people, national economy, and wellbeing globally. Climate change with extreme and intense weather phenomena, combined with potential biological hazards, affect energy systems, posing a threat to energy systems' resilience and security. understand the interaction of the above factors affecting energy systems, it is necessary to understand the concepts of vulnerability and resilience. This study aims to review factors of vulnerability and resilience of renewable energy systems (RES). Climate change is a significant factor, considered critical for the resilience of renewable energy infrastructure. Conclusions include courses of action and measures that need to be taken, to build resilience. Suggestions are made, for a more sustainable and resilient renewable energy sector, compatible with contemporary technology and eco-friendly behaviors, mandated by climate change.
This paper provides a review on barriers of rural electrification and mechanisms for these activities. Access to affordable and high-quality essential for the development of modern economies. Low rates of electricity access in the developing world pose a significant barrier to sustainable economic and social development, particularly in rural areas. The International Energy Agency estimates that about 1.3 billion people in the world, primarily in South Asia and Sub-Saharan Africa, still lack a connection to electricity.
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