Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder, is usually observed in hemizygote males and very rarely in females. The G6PD class 1 variants, very uncommon, are associated with chronic hemolytic anemia. Here we report a Portuguese woman who suffered in her sixties from a chronic hemolytic anemia due to G6PD deficiency. Molecular studies revealed heterozygosity for an in-frame 18-bp deletion, mapping to exon 10 leading to a deletion of 6 residues, 362-367 (LNERKA), which is a novel G6PD class 1 variant, G6PD Tondela. Two of her three daughters, asymptomatic, with G6PD activity within the normal range, are heterozygous for the same deletion. The patient's leukocyte and reticulocyte mRNA studies revealed an almost exclusive expression of the mutant allele, explaining the chronic hemolytic anemia. Patient whole blood genomic DNA HUMARA assay showed a balanced pattern of X chromosome inactivation (XCI), but granulocyte DNA showed extensive skewing, harboring the mutated allele, implying that in whole blood, lymphocyte DNA, with a very long lifetime, may cover up the current high XCI skewing. This observation indicates that HUMARA assay in women should be assessed in granulocytes and not in total leukocytes

Radiation from a D-dimensional collision of shock waves: first order perturbation theory

We study the spacetime obtained by superimposing two equal Aichelburg-Sexl shock waves in D dimensions traveling, head-on, in opposite directions. Considering the collision in a boosted frame, one shock becomes stronger than the other, and a perturbative framework to compute the metric in the future of the collision is setup. The geometry is given, in first order perturbation theory, as an integral solution, in terms of initial data on the null surface where the strong shock has support. We then extract the radiation emitted in the collision by using a D-dimensional generalisation of the Landau-Lifschitz pseudo-tensor and compute the percentage of the initial centre of mass energy epsilon emitted as gravitational waves. In D=4 we find epsilon=25.0%, in agreement with the result of D'Eath and Payne. As D increases, this percentage increases monotonically, reaching 40.0% in D=10. Our result is always within the bound obtained from apparent horizons by Penrose, in D=4, yielding 29.3%, and Eardley and Giddings, in D> 4, which also increases monotonically with dimension, reaching 41.2% in D=10. We also present the wave forms and provide a physical interpretation for the observed peaks, in terms of the null generators of the shocks.Comment: 27 pages, 11 figures; v2 some corrections, including D dependent factor in epsilon; matches version accepted in JHE

Spatial and temporal variation in species-area relationships in the Fynbos biological hotspot

Species-area relations (SARs) are among the few recognized general patterns of ecology, are empirical relations giving the number of species found within an area of a given size and were initially formulated for island environments. The use of SARs has been extended to mainland environments, and to give baseline estimates of extinction rates attending habitat loss. Using current species distributions based on atlas data, we examined the spatial variation of rates of species accumulation and species-area curves for Proteaceae species for all one-minute by one-minute areas within the Cape Floristic Region, South Africa. We compared SARs for current distributions to those generated from modeled future Protea distributions following climate change. Within one biome and for two different scales, there exists a very large spatial variation in turnover rates for current Proteaceae distributions, and we show that these rates will not remain constant as climate warming progresses. As climate changes in coming years, some areas will gain species due to migration, as other areas lose species, and still other areas maintain current rates of species accumulation/turnover. Both current and future distributions show highly variable rates of species accumulation across the landscape. This means that an average species-area relationship will hide a very large interval of variation among SARs, for both current and future Proteaceae distributions. The naive use of species-area relations to estimate species extinctions following loss of current habitat, or loss of future climatically-suitable area is likely to result in erroneous predictions

Occurrence of polycyclic aromatic hydrocarbons, microplastics and biofilms in Alqueva surface water at touristic spots

Freshwater pollution is a huge concern. A study aiming to evaluate physico chemical characteristics, microbiota, occurrence of two groups of persistent environmental pollutants with similar chemical properties polycyclic aromatic hydrocarbons PAHs and microplastics MPs in Alqueva s surface water was performed during 2021. Water samples were collected at three spots related to touristic activities two beaches and one marina during the Winter, Spring, Summer and Autumn seasons. In addition, the presence of biofilms on plastic and natural materials stone, wood vegetal materials were assessed and compared. Water quality based on physicochemical parameters was acceptable with a low eutrophication level. PAHs concentration levels were lower than the standard limits established for surface waters by international organizations. However, carcinogenic compounds were detected in two sampling locations, which can pose a problem for aquatic ecosystems. PAHs profiles showed significant differences when comparing the dry seasons with the rainy seasons, with a higher number of different compounds detected in Spring. Low molecular weigh compounds, usually associated with the atmospheric deposition and petroleum contamination, were more prevalent. MPs were detected in all samples except one during the Winter season. The polymers detected were poly methyl 2 methylpropenoate , polystyrene, polyethylene terephthalate, polyamide, polypropylene, styrene butadiene, polyvinyl chloride and low high density polyethylene with the last being the most frequent. Biofilms were more often detected on plastics than on natural materials. In addition, biofilms detected on plastics were more complex with higher microbial diversity e.g., bacteria, fungi yeast and phytoplancton organisms and richer in extrapolymeric material. Based on morphological analysis a good agreement between microbiota and microorganism present in the biofilms was found. Among microbiota were identified microorganisms previously linked to plastic and PAHs detoxification suggesting the need for further studies to evaluate the viability of using biofilms as part of a green bioremediation strategy to mitigate water pollutio

The use of Earth Observation for wetland inventory, assessment and monitoring

The use of Earth Observation (EO) provides Contracting Parties to the Ramsar Convention on Wetlands with new approaches to ensure the wise use and conservation of wetlands at the national and global levels. EO has many applications including the inventory, assessment and monitoring of wetlands. As technology advances, previous limitations of EO will be reduced, and it is anticipated that the use of EO in the management of wetlands will increase. This Ramsar Technical Report aims to provide practitioners with an overview and illustration, through case studies, on the use of EO for implementation of the Convention and the wise use of wetlands more broadly

Discrete moving frames on lattice varieties and lattice based multispace

In this paper, we develop the theory of the discrete moving frame in two different ways. In the first half of the paper, we consider a discrete moving frame defined on a lattice variety and the equivalence classes of global syzygies that result from the first fundamental group of the variety. In the second half, we consider the continuum limit of discrete moving frames as a local lattice coalesces to a point. To achieve a well-defined limit of discrete frames, we construct multispace, a generalization of the jet bundle that also generalizes Olver’s one dimensional construction. Using interpolation to provide coordinates, we prove that it is a manifold containing the usual jet bundle as a submanifold. We show that continuity of a multispace moving frame ensures that the discrete moving frame converges to a continuous one as lattices coalesce. The smooth frame is, at the same time, the restriction of the multispace frame to the embedded jet bundle. We prove further that the discrete invariants and syzygies approximate their smooth counterparts. In effect, a frame on multispace allows smooth frames and their discretisations to be studied simultaneously. In our last chapter we discuss two important applications, one to the discrete variational calculus, and the second to discrete integrable systems. Finally, in an appendix, we discuss a more general result concerning equicontinuous families of discretisations of moving frames, which are consistent with a smooth frame

Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

The “isomorphic subtype of diffuse astrocytoma” was identified histologically in 2004 as a supratentorial, highly differentiated glioma with low cellularity, low proliferation and focal diffuse brain infiltration. Patients typically had seizures since childhood and all were operated on as adults. To define the position of these lesions among brain tumours, we histologically, molecularly and clinically analysed 26 histologically prototypical isomorphic diffuse gliomas. Immunohistochemically, they were GFAP-positive, MAP2-, OLIG2- and CD34-negative, nuclear ATRX-expression was retained and proliferation was low. All 24 cases sequenced were IDH-wildtype. In cluster analyses of DNA methylation data, isomorphic diffuse gliomas formed a group clearly distinct from other glial/glio-neuronal brain tumours and normal hemispheric tissue, most closely related to paediatric MYB/MYBL1-altered diffuse astrocytomas and angiocentric gliomas. Half of the isomorphic diffuse gliomas had copy number alterations of MYBL1 or MYB (13/25, 52%). Gene fusions of MYBL1 or MYB with various gene partners were identified in 11/22 (50%) and were associated with an increased RNA-expression of the respective MYB-family gene. Integrating copy number alterations and available RNA sequencing data, 20/26 (77%) of isomorphic diffuse gliomas demonstrated MYBL1 (54%) or MYB (23%) alterations. Clinically, 89% of patients were seizure-free after surgery and all had a good outcome. In summary, we here define a distinct benign tumour class belonging to the family of MYB/MYBL1-altered gliomas. Isomorphic diffuse glioma occurs both in children and adults, has a concise morphology, frequent MYBL1 and MYB alterations and a specific DNA methylation profile. As an exclusively histological diagnosis may be very challenging and as paediatric MYB/MYBL1-altered diffuse astrocytomas may have the same gene fusions, we consider DNA methylation profiling very helpful for their identification

Protein misfolding and dysregulated protein homeostasis in autoinflammatory diseases and beyond.

Cells have a number of mechanisms to maintain protein homeostasis, including proteasome-mediated degradation of ubiquitinated proteins and autophagy, a regulated process of ‘self-eating’ where the contents of entire organelles can be recycled for other uses. The unfolded protein response prevents protein overload in the secretory pathway. In the past decade, it has become clear that these fundamental cellular processes also help contain inflammation though degrading pro-inflammatory protein complexes such as the NLRP3 inflammasome. Signaling pathways such as the UPR can also be co-opted by toll-like receptor and mitochondrial reactive oxygen species signaling to induce inflammatory responses. Mutations that alter key inflammatory proteins, such as NLRP3 or TNFR1, can overcome normal protein homeostasis mechanisms, resulting in autoinflammatory diseases. Conversely, Mendelian defects in the proteasome cause protein accumulation, which can trigger interferon-dependent autoinflammatory disease. In non-Mendelian inflammatory diseases, polymorphisms in genes affecting the UPR or autophagy pathways can contribute to disease, and in diseases not formerly considered inflammatory such as neurodegenerative conditions and type 2 diabetes, there is increasing evidence that cell intrinsic or environmental alterations in protein homeostasis may contribute to pathogenesis

A synthesis of past, current and future research for protection and management of papyrus (Cyperus papyrus L.) wetlands in Africa

Papyrus wetlands (dominated by the giant sedge Cyperus papyrus L.) occur throughout eastern, central and southern Africa and are important for biodiversity, for water quality and quantity regulation and for the livelihoods of millions of people. To draw attention to the importance of papyrus wetlands, a special session entitled ‘‘The ecology of livelihoods in papyrus wetlands’’ was organized at the 9th INTECOL Wetlands Conference in Orlando, Florida in June 2012. Papers from the session, combined with additional contributions, were collected in a special issue of Wetlands Ecology and Management. The current paper reviews ecological and hydrological characteristics of papyrus wetlands, summarizes their ecosystem services and sustainable use, provides an overview of papyrus research to date, and looks at policy development for papyrus wetlands. Based on this review, the paper provides a synthesis of research and policy priorities for papyrus wetlands and introduces the contributions in the special issue. Main conclusions are that (1) there is a need for better estimates of the area covered by papyrus wetlands. Limited evidence suggests that the loss of papyrus wetlands is rapid in some areas; (2) there is a need for a better understanding and modelling of the regulating services of papyrus wetlands to support trade-off analysis and improve economic valuation; (3) research on papyrus wetlands should include assessment of all ecosystem services (provisioning, regulating, habitat, cultural) so that trade-offs can be determined as the basis for sustainable management strategies (‘wise use’); (4) more research on the governance, institutional and socio-economic aspects of papyrus wetlands is needed to assist African governments in dealing with the challenges of conserving wetlands in the face of growing food security needs and climate change. The papers in the special issue address a number of these issues