Assessment of Natural Resources Use for Sustainable Development - DPSIR Framework for Case Studies in Portsmouth and Thames Gateway, U.K.

This chapter reports on the uses of the DPSIR framework to assess the sustainability of the intertidal environments within the two UK case study areas, Portsmouth and Thames Gateway. It focuses on statutory conservation areas dominated by intertidal habitats. Two are located in Portsmouth (Portsmouth and Langstone Harbours) and four in the Thames Gateway (Benfleet Marshes, South Thames Estuary, Medway Estuary and the Swale in the Thames Gateway). Based on the reduction of a number of pressures and impacts observed in recent decades and the improvement of overall environmental quality, all six SSSIs are considered to be sustainable in the short and medium term. In the future, it is possible that the impacts of climate change, especially sea-level rise, might result in further reduction in the area and/or quality of intertidal habitats. Further integration between conservation and planning objectives (both for urban development and management of flood risk) at local level is needed to support the long-term sustainability of intertidal habitats

Motor Outcome Measures in Pediatric Patients with Congenital Muscular Dystrophies: A Scoping Review

Congenital muscular dystrophies (CMDs) are a heterogeneous group of genetic neuromuscular disorders. They usually occur at birth or in early childhood, with delayed acquisition of motor milestones, and diffuse muscle weakness. A dystrophic pattern is evident on the muscle biopsy. They are highly variable both in terms of severity and clinical evolution and in terms of pathogenetic biochemical mechanisms. The aim of this review is to collect and summarize the current knowledge of motor function in pediatric patients with congenital muscular dystrophies and the instruments used to assess it. This scoping review was conducted using the methodology of PRISMA (extension for Scoping Reviews, PRISMA-ScR). Two databases were queried from January 2002 to November 2022. Articles were identified based on title and abstract. Full-text papers published in peer-reviewed English-language journals were selected. It emerged that motor functional aspects are still underinvestigated in CMD patients, probably due to the rarity of these conditions and the phenotypic variability. The scales used to assess motor function are heterogeneous, as are the age groups considered. Finally, the predominant type of research design is cross-sectional; few studies analyze the progression of motor function over time. All these factors make it difficult to correlate the results of different publications and stress the need for more accurate and shared protocols for assessing motor function in these patients

Deep Sequencing Analysis of Small Noncoding RNA and mRNA Targets of the Global Post-Transcriptional Regulator, Hfq

Recent advances in high-throughput pyrosequencing (HTPS) technology now allow a thorough analysis of RNA bound to cellular proteins, and, therefore, of post-transcriptional regulons. We used HTPS to discover the Salmonella RNAs that are targeted by the common bacterial Sm-like protein, Hfq. Initial transcriptomic analysis revealed that Hfq controls the expression of almost a fifth of all Salmonella genes, including several horizontally acquired pathogenicity islands (SPI-1, -2, -4, -5), two sigma factor regulons, and the flagellar gene cascade. Subsequent HTPS analysis of 350,000 cDNAs, derived from RNA co-immunoprecipitation (coIP) with epitope-tagged Hfq or control coIP, identified 727 mRNAs that are Hfq-bound in vivo. The cDNA analysis discovered new, small noncoding RNAs (sRNAs) and more than doubled the number of sRNAs known to be expressed in Salmonella to 64; about half of these are associated with Hfq. Our analysis explained aspects of the pleiotropic effects of Hfq loss-of-function. Specifically, we found that the mRNAs of hilD (master regulator of the SPI-1 invasion genes) and flhDC (flagellar master regulator) were bound by Hfq. We predicted that defective SPI-1 secretion and flagellar phenotypes of the hfq mutant would be rescued by overexpression of HilD and FlhDC, and we proved this to be correct. The combination of epitope-tagging and HTPS of immunoprecipitated RNA detected the expression of many intergenic chromosomal regions of Salmonella. Our approach overcomes the limited availability of high-density microarrays that have impeded expression-based sRNA discovery in microorganisms. We present a generic strategy that is ideal for the systems-level analysis of the post-transcriptional regulons of RNA-binding proteins and for sRNA discovery in a wide range of bacteria

Assessing cognitive function in neuromuscular diseases: A pilot study in a sample of children and adolescents

Central nervous system (CNS) involvement has been variously studied in pediatric neuromuscular disorders (NMDs). The primary goal of this study was to assess cognitive functioning in NMDs, and secondary aims were to investigate possible associations of cognitive impairment with motor impairment, neurodevelopmental delay, and genotype. This was a cross-sectional study of 43 pediatric patients, affected by six NMDs. Myotonic dystrophy type 1 (DM1) and glycogen storage disease type 2 (GSD2) patients had a delay on the Bayley-III scales. On Wechsler scales, DMD and DM1 patients showed lower FSIQ scores, with an intellectual disability (ID) in 27% and 50%, respectively. FSIQ was normal in Becker muscular dystrophy (BMD), GSD2, and hereditary motor sensory neuropathy (HMSN) patients, while higher individual scores were found in the spinal muscular atrophy (SMA) group. In the DM1 cohort, lower FSIQ correlated with worse motor performance (ρ = 0.84, p < 0.05), and delayed speech acquisition was associated with ID (p = 0.048), with worse cognitive impairment in the congenital than in the infantile form (p = 0.04). This study provides further evidence of CNS in some NMDs and reinforces the need to include cognitive assessment in protocols of care of selected pediatric NMDs