Resolving tsunami wave dynamics: integrating sedimentology and numerical modelling

Tsunamis are a major hazard along many of the world's coastlines. To understand the impact of these events, a sufficiently long record of previous events is needed, which can be provided by their sedimentary deposits. A number of past events have left extensive sedimentary deposits that can be used to understand the hydrodynamics of the tsunami. The ca 8.15 ka Storegga submarine slide was a large, tsunamigenic mass movement off the coast of Norway. The resulting tsunami had estimated run-up heights of around 10 to 20 m on the Norwegian coast, over 30 m in Shetland and 3 to 6 m on the Scottish mainland coast. New cores were taken from the Ythan Valley in North-East Scotland, where Storegga tsunami deposits have previously been found. High-resolution sedimentary analyses of the cores, combined with statistical (changepoint) analysis, shows signatures of multiple waves. Moreover, detailed CT scans of the erosional basal surface reveal sole marks called skim marks. Taken in conjunction with the grain size and sedimentary fabric characteristics of the tsunami deposits, this indicates that the flow exhibited a high-concentration basal component, with an initial semi-cohesive phase and that deposition was dominantly capacity driven. A multiple wave hypothesis is tested by creating a high-resolution numerical model (metre-scale) of the wave inundation, coupled to a previously published regional model. The inundation model confirms that multiple waves passed over the site in agreement with the sedimentological analysis. The sensitivity of the model to the reconstructed palaeocoastal geomorphology is quantitatively explored. It is concluded that local palaeogeomorphological reconstruction is key to understanding the hydrodynamics of a tsunami wave group in relation to its sedimentary deposit. Combining sedimentological data with high-resolution inundation modelling is a powerful tool to help interpret the sedimentary record of tsunami events and hence to improve knowledge of their risks

Resolving tsunami wave dynamics: integrating sedimentology and numerical modelling

Tsunamis are a major hazard along many of the world's coastlines. To understand the impact of these events, a sufficiently long record of previous events is needed, which can be provided by their sedimentary deposits. A number of past events have left extensive sedimentary deposits that can be used to understand the hydrodynamics of the tsunami. The ca 8.15 ka Storegga submarine slide was a large, tsunamigenic mass movement off the coast of Norway. The resulting tsunami had estimated run-up heights of around 10 to 20 m on the Norwegian coast, over 30 m in Shetland, and 3 to 6 m on the Scottish mainland coast. New cores were taken from the Ythan Valley in North-East Scotland, where Storegga tsunami deposits have previously been found. High resolution sedimentary analyses of the cores, combined with statistical (changepoint) analysis, shows signatures of multiple waves. Moreover, detailed CT scans of the erosional basal surface reveal sole marks called skim marks. Taken in conjunction with the grain-size and sedimentary fabric characteristics of the tsunami deposits, this indicates that the flow exhibited a high-concentration basal component, with an initial semi-cohesive phase, and that deposition was dominantly capacity-driven. A multiple wave hypothesis is tested by creating a high resolution numerical model (metrescale) of the wave inundation, coupled to a previously published regional model. The inundation model confirms that multiple waves passed over the site in agreement with the sedimentological analysis. The sensitivity of the model to the reconstructed palaeocoastal geomorphology is quantitatively explored. It is concluded that local palaeogeomorphological reconstruction is key to understanding the hydrodynamics of a tsunami wave group in relation to its sedimentary deposit. Combining sedimentological data with high resolution inundation modelling is a powerful tool to help interpret the sedimentary record of tsunami events and hence to improve knowledge of their risks

Jansen-de Vries syndrome : expansion of the PPM1D clinical and phenotypic spectrum in 34 families

Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease-causing variants in PPM1D leading to JdVS. Clinical data were provided by treating physicians and/or families. Of the 37 individuals, 27 were male and 10 female, with median age 8.75 years (range 8 months to 62 years). Four families document autosomal dominant transmission, and 32/34 probands were diagnosed via exome sequencing. The facial gestalt, including a broad forehead and broad mouth with a thin and tented upper lip, was most recognizable between 18 and 48 months of age. Common manifestations included global developmental delay (35/36, 97%), hypotonia (25/34, 74%), short stature (14/33, 42%), constipation (22/31, 71%), and cyclic vomiting (6/35, 17%). Distinctive personality traits include a hypersocial affect (21/31, 68%) and moderate-to-severe anxiety (18/28, 64%). In conclusion, JdVS is a clinically recognizable neurodevelopmental syndrome with a characteristic personality and distinctive facial features. The association of pathogenic variants in PPM1D with cyclic vomiting bears not only medical attention but also further pathogenic and mechanistic evaluation

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants, including nine outside the ATPase/helicase domain. All patients were detected with unbiased molecular genetic methods. There is not a significant difference in the clinical or facial features of patients with variants in or outside this domain. These additional patients further expand the clinical and molecular data associated with CHD3 variants. Importantly we conclude that there is not a significant difference in the phenotypic features of patients with various molecular disruptions, including whole gene deletions and duplications, and missense variants outside the ATPase/helicase domain. This data will aid both clinical geneticists and molecular geneticists in the diagnosis of this emerging syndrome