Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly,arthrogryposis and structural brain anomalies

SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the prenatal findings of affected fetuses. The phenotypes can include growth restriction, arthrogryposis (clenched hands, foot deformity), as well as cerebral abnormalities (simplified gyral pattern/lissencephaly, cerebellar hypoplasia, corpus callosum deformity). SMPD4 loss is detectable via exome sequencing. Here, two fetuses displayed a homozygotic pathogen variant in the SMPD4 gene, encoding for the enzyme Sphingomyelinase-4. Both parents were heterozygous carriers of the pathogenic variant. On detection of the above mentioned signs exome sequencing is indicated, with focus on the SMPD4 gene.     

Climate change effects on the Baltic Sea borderland between land and sea

Coastal habitats are situated on the border between land and sea, and ecosystem structure and functioning is influenced by both marine and terrestrial processes. Despite this, most scientific studies and monitoring are conducted either with a terrestrial or an aquatic focus. To address issues concerning climate change impacts in coastal areas, a cross-ecosystem approach is necessary. Since habitats along the Baltic coastlines vary in hydrology, natural geography, and ecology, climate change projections for Baltic shore ecosystems are bound to be highly speculative. Societal responses to climate change in the Baltic coastal ecosystems should have an ecosystem approach and match the biophysical realities of the Baltic Sea area. Knowledge about ecosystem processes and their responses to a changing climate should be integrated within the decision process, both locally and nationally, in order to increase the awareness of, and to prepare for climate change impacts in coastal areas of the Baltic Sea.