Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV

Limb Regeneration in Horseshoe Crabs

Horseshoe crabs, like many invertebrates, are able to regenerate ablated appendages. It was hypothesized that ependymin and/or juvenile hormone would contribute to regeneration at ablation sites and could be demonstrated by immunohistochemistry. Ablated appendages and regenerated stumps were examined by light and electron microscopy. The post-ablation tissue retracts into the remaining limb where new shell is formed in between two layers of living tissue. JH immunoreactivity was found in blood cells in the regenerating stumps. Anti-EPN immunoreactivity was not detected

Negotiating Secure Land Tenure Through Community Redevelopment: A case study from the Klong Toey Slum in Bangkok

The Rim Klong Wat Sapan community, located in the Klong Toey slum of Bangkok, Thailand, is currently in danger of being evicted by their land owner.  One known way to cope with this threat is through redevelopment.  We established a generic redevelopment process by which slum communities can organize to resist eviction, and created a guidebook explaining how to use this process.  We then adapted this process to the specific needs and desires of the Rim Klong Wat Sapan community