Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants

Triploidy is a relatively common cause of miscarriage; however, recurrent triploidy has rarely been reported. A healthy 34-year-old woman was ascertained because of 18 consecutive miscarriages with triploidy found in all 5 karyotyped losses. Molecular results in a sixth loss were also consistent with triploidy. Genotyping of markers near the centromere on multiple chromosomes suggested that all six triploid conceptuses occurred as a result of failure to complete meiosis II (MII). The proband's mother had also experienced recurrent miscarriage, with a total of 18 miscarriages. Based on the hypothesis that an inherited autosomal-dominant maternal predisposition would explain the phenotype, whole-exome sequencing of the proband and her parents was undertaken to identify potential candidate variants. After filtering for quality and rarity, potentially damaging variants shared between the proband and her mother were identified in 47 genes. Variants in genes coding for proteins implicated in oocyte maturation, oocyte activation or polar body extrusion were then prioritized. Eight of the most promising candidate variants were confirmed by Sanger sequencing. These included a novel change in the PLCD4 gene, and a rare variant in the OSBPL5 gene, which have been implicated in oocyte activation upon fertilization and completion of MII. Several variants in genes coding proteins playing a role in oocyte maturation and early embryonic development were also identified. The genes identified may be candidates for the study in other women experiencing recurrent triploidy or recurrent IVF failur

TRY plant trait database – enhanced coverage and open access

Plant traits—the morphological, anatomical, physiological, biochemical and phenological characteristics of plants—determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits—almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

Biomechanical approaches applied to the lower and upper limb for the measurement of spasticity: a systematic review of the literature

Purpose: To review and characterise biomechanical approaches for the measurement of spasticity as one component of the upper motor neurone syndrome.Method: Systematic literature searches based on defined constructs and a four-step review process of approaches used or described to measure spasticity, its association with function or associated phenomena. Most approaches were limited to individual joints and therefore, to reflect this trend, references were grouped according to which body joint(s) were investigated or whether it addressed a functional activity. For each joint, references were further sub-divided into the types of measurement method described.Results: A database of 335 references was established for the review process. The knee, ankle and elbow joints were the most popular, perhaps reflecting the assumption that they are mono-planar in movement and therefore simpler to assess. Seven measurement methods were identified: five involving passive movement (manual, controlled displacement, controlled torque, gravitational and tendon tap) and two involving active movement (voluntary and functional). Generally, the equipment described was in an experimental stage and there was a lack of information on system properties, such as accuracy or reliability. Patient testing was either by cohort or case studies. The review also conveyed the myriad of interpretations of the concept of spasticity.Conclusions: Though biomechanical approaches provide quantitative data, the review highlighted several limitations that have prevented them being established as an appropriate method for clinical application to measure spasticity