Novel Technologies and Their Application for Protected Area Management: A Supporting Approach in Biodiversity Monitoring

State-of-the-art tools are revolutionizing protected area (PA) manager approaches to biodiversity monitoring. Effective strategies are available for test site establishment, data collection, archiving, analysis, and presentation. In PAs, use of new technologies will support a shift from primarily expert-based to automated monitoring procedures, allowing increasingly efficient data collection and facilitating adherence to conservation requirements. Selection and application of appropriate tools increasingly improve options for adaptive management. In this chapter, modern biodiversity monitoring techniques are introduced and discussed in relation to previous standard approaches for their applicability in diverse habitats and for different groups of organisms. A review of some of today’s most exciting technologies is presented, including environmental DNA analysis for species identification; automated optical, olfactory, and auditory devices; remote sensing applications relaying site conditions in real-time; and uses of unmanned aerial systems technology for observation and mapping. An overview is given in the context of applicability of monitoring tools in different ecosystems, providing a theoretical basis from conceptualization to implementation of novel tools in a monitoring program. Practical examples from real-world PAs are provided

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with fetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71% with higher mortality in males. Death occurred at a median age of 1.2 months (1 week - 9 years) due to respiratory failure, cardiac arrest, or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a hypoplastic corpus callosum (72%), foci of signal abnormality in the subcortical and periventricular white matter (55%), diffuse white matter volume loss (45%), mega cisterna magna (36%) and arachnoid cysts (27%). The molecular spectrum included 22 distinct variants, defining a mutational hotspot in the C-terminal domain of the Torsin-1A protein. Genotype-phenotype analysis revealed an association of missense variants in the 3-helix bundle domain to an attenuated phenotype, while missense variants near the Walker A/B motif as well as biallelic truncating variants were linked to early death. In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range delineates the clinical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors for disease severity and survival

Repression of the genome organizer SATB1 in regulatory T cells is required for suppressive function and inhibition of effector differentiation

Regulatory T cells (T(reg) cells) are essential for self-tolerance and immune homeostasis. Lack of effector T cell (T(eff) cell) function and gain of suppressive activity by T(reg) cells are dependent on the transcriptional program induced by Foxp3. Here we report that repression of SATB1, a genome organizer that regulates chromatin structure and gene expression, was crucial for the phenotype and function of T(reg) cells. Foxp3, acting as a transcriptional repressor, directly suppressed the SATB1 locus and indirectly suppressed it through the induction of microRNAs that bound the SATB1 3' untranslated region. Release of SATB1 from the control of Foxp3 in T(reg) cells caused loss of suppressive function, establishment of transcriptional T(eff) cell programs and induction of T(eff) cell cytokines. Our data support the proposal that inhibition of SATB1-mediated modulation of global chromatin remodeling is pivotal for maintaining T(reg) cell functionality.Marc Beyer... Timothy Sadlon...Simon C Barry... et al

Simultaneous pancreatectomy and liver transplantation: a single-institution experience

AbstractBackgroundThere is wide debate among transplant centres regarding the indications for liver transplantation (LT) in malignancy. We report a single-centre experience with simultaneous LT and total pancreatectomy or pancreaticoduodenectomy.MethodsWe performed a retrospective review of a prospectively established database of patients who underwent simultaneous LT and total pancreatectomy or pancreaticoduodenectomy. We analysed demographics, indications, approach and outcomes.ResultsBetween 1991 and 2006, 11 patients (four male; median age 51 years) underwent simultaneous LT and total pancreatectomy (n=4) or pancreaticoduodenectomy (n=7). Indications included metastatic neuroendocrine tumour (n=5), hepatocellular carcinoma (n=2), metastatic periampullary adenocarcinoma (n=1), periampullary adenocarcinoma with end-stage liver disease (ESLD) (n=2) and intraductal papillary mucinous neoplasm with ESLD (n=1). The three patients with ESLD had non-alcoholic steatohepatitis, primary sclerosing cholangitis or cryptogenic cirrhosis. Median postoperative length of stay was 31 days (21–110 days). Overall median survival was 101 months (95% confidence interval 70.6–131.4). One-year survival was 91%, 2-year 90%, 5-year 67% and 10-year 33%. Postoperative complications included: re-operation (n=4); anastamotic leak (n=2); abdominal abscess (n=3), and organ rejection (n=1).ConclusionsWe report a series of pancreatectomy or pancreaticoduodenectomy and simultaneous LT in patients with extensive malignancy or impending liver failure that prevented pancreatectomy. This series provides evidence that combined pancreatic resection and LT can be a strategy in both radical resections and cases with ESLD that would otherwise preclude operative intervention

International Ocean Discovery Program Expedition 371 Preliminary Report

International Ocean Discovery Program (IODP) Expedition 371 drilled six sites in the Tasman Sea of the southwest Pacific between 27 July and 26 September 2017. The primary goal was to understand Tonga-Kermadec subduction initiation through recovery of Paleogene sediment records. Secondary goals involved understanding regional oceanography and climate since the Paleogene. Six sites were drilled, recovering 2506 m of cored sediment and volcanic rock in 36.4 days of on-site drilling during a total expedition length of 58 days. Wireline logs were collected at two sites. Shipboard observations made using cores and logs represent a substantial gain in fundamental knowledge about northern Zealandia, because only Deep Sea Drilling Project Sites 206, 207, and 208 had penetrated beneath upper Eocene strata within the region. The cored intervals at five sites (U1506-U1510) sampled nannofossil and foraminiferal ooze or chalk that contained volcanic or volcaniclastic intervals with variable clay content. Paleocene and Cretaceous sections range from more clay rich to predominantly claystone. At the final site (U1511), a sequence of abyssal clay and diatomite was recovered with only minor amounts of carbonate. The ages of strata at the base of each site were middle Eocene to Late Cretaceous, and our new results provide the first firm basis for defining formal lithostratigraphic units that can be mapped across a substantial part of northern Zealandia and related to onshore regions of New Caledonia and New Zealand. The material and data recovered during Expedition 371 enable primary scientific goals to be accomplished. All six sites provided new stratigraphic and paleogeographic information that can be put into context through regional seismic-stratigraphic interpretation and hence provide strong constraints on geodynamic models of subduction zone initiation. Our new observations can be directly related to the timing of plate deformation, the magnitude and timing of vertical motions, and the timing and type of volcanism. Secondary paleoclimate objectives were not all completed as planned, but significant new records of southwest Pacific climate were obtained