Dignity and respect during pregnancy and childbirth: a survey of the experience of disabled women

Background: Despite the increasing number of women with disability globally becoming pregnant, there is currently limited research about their experiences. A national survey of women’s experience of dignity and respect during pregnancy and childbirth raised concerns about the possibility of women with disability having unequal care with overall less choice and control. To address this further we conducted a study to explore the experiences of dignity and respect in childbirth of women with disability. Methods: The study involved a self-selecting, convenience sample of 37 women who had given birth in the United Kingdom and Ireland and had completed an internet-based survey. Women were identified through online networks and groups of and for disabled parents and for people with specific medical conditions. Data were collected using an online survey tool. Survey data were analysed using descriptive statistics. Thematic analysis was used for open questions. Results: Despite generally positive responses, just over half of the group of women expressed dissatisfaction with care provision. Only 19% thought that reasonable adjustments or accommodations had been made for them (7/37). When reasonable adjustments were not in place, participants’ independence and dignity were undermined. More than a quarter of women felt they were treated less favourably because of their disability (10/37, 27%). At all points in the pregnancy continuum more than a quarter of women felt their rights were either poorly or very poorly respected; however this was greatest in the postnatal period (11/35, 31%). In addition, more than half of the women (20/36, 56%) felt that maternity care providers did not have appropriate awareness of or attitudes to disability. Conclusions: Women’s experiences of dignity and respect in childbirth revealed that a significant proportion of women felt their rights were poorly respected and that they were treated less favourably because of their disability. This suggests that there is a need to look more closely at individualised care. It was also evident that more consideration is required to improve attitudes of maternity care providers to disability and services need to adapt to provide reasonable adjustments to accommodate disability, including improving continuity of carer

Oxidation resistance 1 regulates post-translational modifications of peroxiredoxin 2 in the cerebellum

Protein aggregation, oxidative and nitrosative stress are etiological factors common to all major neurodegenerative disorders. Therefore, identifying proteins that function at the crossroads of these essential pathways may provide novel targets for therapy. Oxidation resistance 1 (Oxr1) is a protein proven to be neuroprotective against oxidative stress, although the molecular mechanisms involved remain unclear. Here, we demonstrate that Oxr1 interacts with the multifunctional protein, peroxiredoxin 2 (Prdx2), a potent antioxidant enzyme highly expressed in the brain that can also act as a molecular chaperone. Using a combination of in vitro assays and two animal models, we discovered that expression levels of Oxr1 regulate the degree of oligomerization of Prdx2 and also its post-translational modifications (PTMs), specifically suggesting that Oxr1 acts as a functional switch between the antioxidant and chaperone functions of Prdx2. Furthermore, we showed in the Oxr1 knockout mouse that Prdx2 is aberrantly modified by overoxidation and S-nitrosylation in the cerebellum at the presymptomatic stage; this in-turn affected the oligomerization of Prdx2, potentially impeding its normal functions and contributing to the specific cerebellar neurodegeneration in this mouse model

Citizen science and the United Nations Sustainable Development Goals

Traditional data sources are not sufficient for measuring the United Nations Sustainable Development Goals. New and non-traditional sources of data are required. Citizen science is an emerging example of a non-traditional data source that is already making a contribution. In this Perspective, we present a roadmap that outlines how citizen science can be integrated into the formal Sustainable Development Goals reporting mechanisms. Success will require leadership from the United Nations, innovation from National Statistical Offices and focus from the citizen-science community to identify the indicators for which citizen science can make a real contribution

Neuropilin-2 mediates VEGF-C–induced lymphatic sprouting together with VEGFR3

If neuropilin-2 and the growth factor VEGF-C don’t come together, lymphatic vessels don’t branch apart

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved. Known PME genes encode a variety of proteins, many involved in lysosomal and endosomal function. We performed whole-exome sequencing (WES) in 84 (78 unrelated) unsolved PME-affected individuals, with or without additional family members, to discover novel causes. We identified likely disease-causing variants in 24 out of 78 (31%) unrelated individuals, despite previous genetic analyses. The diagnostic yield was significantly higher for individuals studied as trios or families (14/28) versus singletons (10/50) (OR = 3.9, p value = 0.01, Fisher's exact test). The 24 likely solved cases of PME involved 18 genes. First, we found and functionally validated five heterozygous variants in NUS1 and DHDDS and a homozygous variant in ALG10, with no previous disease associations. All three genes are involved in dolichol-dependent protein glycosylation, a pathway not previously implicated in PME. Second, we independently validate SEMA6B as a dominant PME gene in two unrelated individuals. Third, in five families, we identified variants in established PME genes; three with intronic or copy-number changes (CLN6, GBA, NEU1) and two very rare causes (ASAH1, CERS1). Fourth, we found a group of genes usually associated with developmental and epileptic encephalopathies, but here, remarkably, presenting as PME, with or without prior developmental delay. Our systematic analysis of these cases suggests that the small residuum of unsolved cases will most likely be a collection of very rare, genetically heterogeneous etiologies.Peer reviewe

Special phase transformation and crystal growth pathways observed in nanoparticles†

Phase transformation and crystal growth in nanoparticles may happen via mechanisms distinct from those in bulk materials. We combine experimental studies of as-synthesized and hydrothermally coarsened titania (TiO(2)) and zinc sulfide (ZnS) with thermodynamic analysis, kinetic modeling and molecular dynamics (MD) simulations. The samples were characterized by transmission electron microscopy, X-ray diffraction, synchrotron X-ray absorption and scattering, and UV-vis spectroscopy. At low temperatures, phase transformation in titania nanoparticles occurs predominantly via interface nucleation at particle–particle contacts. Coarsening and crystal growth of titania nanoparticles can be described using the Smoluchowski equation. Oriented attachment-based crystal growth was common in both hydrothermal solutions and under dry conditions. MD simulations predict large structural perturbations within very fine particles, and are consistent with experimental results showing that ligand binding and change in aggregation state can cause phase transformation without particle coarsening. Such phenomena affect surface reactivity, thus may have important roles in geochemical cycling