SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance

A Jewish couple of mixed origin was referred for genetic counseling following termination of pregnancy at 18 weeks of gestation due to severe ventriculomegaly with aqueduct stenosis. Trio exome sequencing revealed a loss-of-function heterozygous variant in the SMARCC1 gene inherited from an unaffected mother. The SMARCC1 gene is associated with embryonic neurodevelopmental processes. Recent studies have linked perturbations of the gene with autosomal dominant congenital hydrocephalus, albeit with reduced penetrance. However, these studies were not referenced in the SMARCC1 OMIM record (*601732) and the gene was not considered, at the time, an OMIM morbid gene. Following our case and appeal, SMARCC1 is now considered a susceptibility gene for hydrocephalus. This allowed us to reclassify the variant as likely pathogenic and empowered the couple to make informed reproductive choices.     

Persistent organic pollutants and sedimentary organic matter properties: a case study in the Kishon River, Israel

The Kishon River, the second largest coastal river in Israel, has been severely polluted for several decades. Sediments from upstream and downstream sites of the river were analyzed, lipid-extracted and evaluated for phenanthrene uptake. Total polycyclic aromatic hydrocarbon (PAH) concentration in downstream sediments was 299 microg kg(-1), consisting mostly of petrogenic-derived PAHs. Downstream sedimentary lipids were found to be dominated by fresh and decomposed petroleum-derived n-alkanes. The total PAH concentration in upstream sediments was 173 microg kg(-1), consisting mostly of pyrogenic-derived PAHs, whereas lipids from these sediments were mostly vegetation-derived. Spectroscopic data suggested an exceptionally high aromatic content in downstream humic acid, which originated from PAHs attached to its structure. Sorption data suggested that upstream sedimentary cuticle-derived lipids function as a sorption domain, while downstream sedimentary lipids, consisting of shorter-chain-length petroleum-derived alkanes, compete with phenanthrene for sorption sites.     

Understanding citizens’ perception of waste composting and segregation

Journal of Material Cycles and Waste Management - The purpose of this study is to analyze citizen perceptions of composting and segregation in two case studies from Jakarta and Delhi. The framework...