Lost Generation: System Resilience and Flexibility

Whole energy system modelling is a valuable tool to support the development of policy to decarbonise energy systems, and has been used extensively in the UK for this purpose. However, quantitative insights produced by such models methods necessarily omit potentially important features of physical and engineering reality. The authors argue that important socio-technical insights can be gained by studying critical events such as the loss of 2.1 GW generation from the electricity system of Great Britain in August, 2019. The present paper uses this event as a starting point for a discussion of the need for additional tools, drawn from the System Architecture literature, to support the design and realisation of future fully decarbonised systems with high penetrations of renewable energy, capable of providing high levels of resilience and flexibility

Heat Decarbonisation Modelling Approaches in the UK: An Energy System Architecture Perspective

Energy models have been widely applied to the analysis of energy system decarbonisation to assess the options and costs of a transition to a low carbon supply. However, questions persist as to whether they are able to effectively represent and assess heat decarbonisation pathways for the buildings sector. A range of limitations have been identified, including a poor spatio-temporal resolution, limited representation of behaviour, and restricted representation of the full technical option set. This paper undertakes a review of existing energy models for heat decarbonisation in the UK, applying the novel perspective of energy system architecture (ESA). A set of ESA-related features are identified (including evolvability, flexibility, robustness, and feasibility), and models are reviewed against these features. The review finds that a range of models exist that have strengths across different features of ESA, suggesting that multiple modelling approaches are needed in order to adequately address the heat decarbonisation challenge. However, opportunities to improve existing models and develop new approaches also exist, and a research agenda is therefore proposed

Human leukocyte antigens class II in CIDP spectrum neuropathies

CIDP spectrum encompasses several clinical variants and the reasons of the heterogeneous clinical expression and the variable response to therapy are scarcely known. HLA associations are common in dysimmune conditions. In CIDP, few studies reported no associations or HLA-DR13/DQ6 association in some populations but, to date, a clear confirmed association is lacking. We analyzed expression of HLA-DR and DQ haplotypes in 24 CIDP patients and 216 healthy subject. HLA-DR3 and DR3/DQ2 were significantly more frequent in CIDP patients than in the control group. The DR3 and DR3/DQ2 positive patients present with more frequent relapsing course, worse response to IVIg, higher inflammatory neuropathy sensory sumscore (ISS) and Rotterdam Inflammatory Neuropathy Cause and Treatment Scale (INCAT) than negative patients

Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study

Bethlem myopathy represents the milder form of the spectrum of Collagen VI-related dystrophies, which are characterized by a clinical continuum between the two extremities, the Bethlem myopathy and the Ullrich congenital muscular dystrophy, and include less defined intermediate phenotypes. Bethlem myopathy is mainly an autosomal dominant disorder and the causing mutations occur in the COL6A genes encoding for the α1 (COL6A1), α2 (COL6A2) and α3 (COL6A3) chains. However, few cases of recessive inheritance have been also reported. We here describe clinical, genetic and functional findings in a recessive Bethlem myopathy family harbouring two novel pathogenic mutations in the COL6A2 gene. Two adult siblings presented with muscle weakness and wasting, elbows and Achilles tendon retractions, lumbar hyperlordosis, waddling gait and positive Gowers' sign. Muscle biopsy showed a dystrophic pattern. Molecular analysis of the COL6A2 gene revealed the novel paternally-inherited nonsense p.Gln889* mutation and the maternally-inherited p.Pro260_Lys261insProPro small insertion. Fibroblast studies in both affected patients showed the concomitant reduction in the amount of normal Collagen VI (p.Gln889*) and impairment of Collagen VI secretion and assembly (p.Pro260_Lys261insProPro). Each of the two variants behave as a recessive mutation as shown by the asymptomatic heterozygous parents, while their concomitant effects determined a relatively mild Bethlem myopathy phenotype. This study confirms the occurrence of recessive inherited Bethlem myopathy and expands the genetic heterogeneity of this group of muscle diseases

Additional file 1: of Phylogenetic characterisation of circulating, clinical influenza isolates from Bali, Indonesia: preliminary report from the BaliMEI project

Sequence IDs from the GISAID database. Sequences downloaded from the GISAID database representing the range of influenza genetic diversity worldwide during the same period that the BaliMEI study was conducted (XLS 876 kb

Additional file 2: of Phylogenetic characterisation of circulating, clinical influenza isolates from Bali, Indonesia: preliminary report from the BaliMEI project

Sequence IDs from the GISAID database. The IDs of the BaliMEI influenza sequences uploaded to the GISAID database (XLS 79 kb