Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109

Our goal was to describe and illustrate prenatal cerebral imaging features of the most severe form of a new syndromic entity related to KIAA1109 pathogenic variants based on a retrospective multicentric study of seven cases. All cases demonstrated a similar complex severe cerebral malformative pattern. This pattern included, within the supratentorial space, major cerebral parenchymal thinning with a lissencephalic cortical pattern, voluminous germinal matrices, severe ventriculomegaly, and corpus callosum agenesis. Within the infra-tentorial space, cerebellar hypoplasia was associated with characteristic brainstem dysgenesis including elongation of the pons, as well as a variable degree of kinking of the brainstem. This cerebral pattern, which was suggestive of the more severe phenotypes related to disrupting variants of tubulin-encoding genes, was associated in all cases with clubfoot and/or arthrogryposis, and in most cases with cardiac and ophthalmologic anomalies. In all cases, exome sequencing led to the identification of KIAA1109 pathogenic variants

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Our goal was to describe and illustrate prenatal cerebral imaging features of the most severe form of a new syndromic entity related to KIAA1109 pathogenic variants based on a retrospective multicentric study of seven cases. All cases demonstrated a similar complex severe cerebral malformative pattern. This pattern included, within the supratentorial space, major cerebral parenchymal thinning with a lissencephalic cortical pattern, voluminous germinal matrices, severe ventriculomegaly, and corpus callosum agenesis. Within the infra-tentorial space, cerebellar hypoplasia was associated with characteristic brainstem dysgenesis including elongation of the pons, as well as a variable degree of kinking of the brainstem. This cerebral pattern, which was suggestive of the more severe phenotypes related to disrupting variants of tubulin-encoding genes, was associated in all cases with clubfoot and/or arthrogryposis, and in most cases with cardiac and ophthalmologic anomalies. In all cases, exome sequencing led to the identification of KIAA1109 pathogenic variants

What do models tell us about water and sediment connectivity?

Connectivity has been embraced by the geosciences community as a useful concept to understand and describe hydrological functioning and sediment movement through catchments. Mathematical modelling has been used for decades to quantify and predict erosion and transport of sediments, e.g. in scenarios of land use change or conservation measures. Being intrigued by both models and the connectivity concept, as a group of modellers we aimed at investigating what different models could tell us about connectivity. Therefore, we evaluated the response of contrasted spatially-distributed models to landscape connectivity features and explained the differences based on different model structures. A total of 53 scenarios were built with varying field sizes and orientations, as well as the implementation of soil conservation measures. These scenarios were simulated, for two rainfall intensities, with five event- and process-based water and soil erosion models – EROSION3D, FullSWOF_2D, LandSoil, OpenLISEM and Watersed. Results showed that rainfall amount plays the most important role in determining relative export and connected area of runoff and sediment in all models, indicating that functional aspects of connectivity were more important than structural connectivity. As for the role of structural landscape elements, there was no overall agreement between models regarding the effects of field sizes, crop allocation pattern, and conservation practices; agreement was also low on the spatial patterns of connectivity. This overall disagreement between models was unexpected. The results of this exercise suggest that the correct parameterization of runoff and sediment production and of routing patterns may be an important issue. Thus, incorporating connectivity functions based on routing would help modelling forward. Our results also suggest that structural connectivity indices may not suffice to represent connectivity in this type of catchment (relatively simple and monotonous land cover), and functional connectivity indices should be applied

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues