Bioquality Hotspots in the Tropical African Flora.

Identifying areas of high biodiversity is an established way to prioritize areas for conservation [1-3], but global approaches have been criticized for failing to render global biodiversity value at a scale suitable for local management [4-6]. We assembled 3.1 million species distribution records for 40,401 vascular plant species of tropical Africa from sources including plot data, herbarium databases, checklists, and the Global Biodiversity Information Facility (GBIF) and cleaned the records for geographic accuracy and taxonomic consistency. We summarized the global ranges of tropical African plant species into four weighted categories of global rarity called Stars. We applied the Star weights to summaries of species distribution data at fine resolutions to map the bioquality (range-restricted global endemism) of areas [7]. We generated confidence intervals around bioquality scores to account for the remaining uncertainty in the species inventory. We confirm the broad significance of the Horn of Africa, Guinean forests, coastal forests of East Africa, and Afromontane regions for plant biodiversity but also reveal the variation in bioquality within these broad regions and others, particularly at local scales. Our framework offers practitioners a quantitative, scalable, and replicable approach for measuring the irreplaceability of particular local areas for global biodiversity conservation and comparing those areas within their global and regional context

Alström Syndrome: Genetics and Clinical Overview

Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Symptoms first appear in infancy and progressive development of multi-organ pathology leads to a reduced life expectancy. Variability in age of onset and severity of clinical symptoms, even within families, is likely due to genetic background

The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway

Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome, ALMS1, is ubiquitously expressed and has multiple splice variants. The protein encoded by this gene has been implicated in ciliary function, cell cycle control, and intracellular transport. To gain better insight into the pathways through which ALMS1 functions, we carried out a yeast two hybrid (Y2H) screen in several mouse tissue libraries to identify ALMS1 interacting partners. The majority of proteins found to interact with the murine carboxy-terminal end (19/32) of ALMS1 were α-actinin isoforms. Interestingly, several of the identified ALMS1 interacting partners (α-actinin 1, α-actinin 4, myosin Vb, rad50 interacting 1 and huntingtin associated protein1A) have been previously associated with endosome recycling and/or centrosome function. We examined dermal fibroblasts from human subjects bearing a disruption in ALMS1 for defects in the endocytic pathway. Fibroblasts from these patients had a lower uptake of transferrin and reduced clearance of transferrin compared to controls. Antibodies directed against ALMS1 N- and C-terminal epitopes label centrosomes and endosomal structures at the cleavage furrow of dividing MDCK cells, respectively, suggesting isoform-specific cellular functions. Our results suggest a role for ALMS1 variants in the recycling endosome pathway and give us new insights into the pathogenesis of a subset of clinical phenotypes associated with ALMS

Erasmus Mundus Master of Bioethics: a case for an effective model for international bioethics education

Designing bioethics curriculum for international postgraduate students is a challenging task. There are at least two main questions, which have to be resolved in advance: (1) what is a purpose of a particular teaching program and (2) how to respectfully arrange a classroom for students coming from different cultural and professional backgrounds. In our paper we analyze the case of the Erasmus Mundus Master of Bioethics program and provide recommendations for international bioethics education. In our opinion teaching bioethics to postgraduate international students goes beyond curriculum. It means that such a program requires not only well-defined goals, including equipping students with necessary skills and knowledge, but also it should first and foremost facilitate positive group dynamics among students and enables them to engage in dialogue to learn from one another

Protection From Clinical Peripheral Sensory Neuropathy in Alström Syndrome in Contrast to Early-Onset Type 2 Diabetes

OBJECTIVE—Alström syndrome, with type 2 diabetes, and blindness could confer a high risk of foot ulceration. Clinical testing for neuropathy in Alström syndrome and matched young-onset type 2 diabetic subjects was therefore undertaken

Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

<p>Abstract</p> <p>Background</p> <p>Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory peritoneal dialysis, however, are not commonly mentioned in the literature.</p> <p>Case presentation</p> <p>We present the case of a four-year-old Romanian boy who presented to our department with 'febrile seizures'. After an initial evaluation, we diagnosed our patient as having hypertension, severe anemia and end-stage renal disease. He met the major and minor criteria for the diagnosis of Bardet-Biedl syndrome and underwent continuous ambulatory peritoneal dialysis.</p> <p>Conclusions</p> <p>Close follow-up for renal involvement in patients with Bardet-Biedl syndrome and Alström syndrome from an early age is highly recommended to prevent end-stage renal disease and so renal replacement therapy can be started immediately.</p

Changes in ocean vertical heat transport with global warming

Heat transport between the surface and deep ocean strongly influences transient climate change. Mechanisms setting this transport are investigated using coupled climate models and by projecting ocean circulation into the temperature-depth diagram. In this diagram, a “cold cell” cools the deep ocean through the downwelling of Antarctic waters and upwelling of warmer waters and is balanced by warming due to a “warm cell,” coincident with the interhemispheric overturning and previously linked to wind and haline forcing. With anthropogenic warming, the cold cell collapses while the warm cell continues to warm the deep ocean. Simulations with increasingly strong warm cells, set by their mean Southern Hemisphere winds, exhibit increasing deep-ocean warming in response to the same anthropogenic forcing. It is argued that the partition between components of the circulation which cool and warm the deep ocean in the preindustrial climate is a key determinant of ocean vertical heat transport with global warming

The Pandora multi-algorithm approach to automated pattern recognition of cosmic-ray muon and neutrino events in the MicroBooNE detector.

The development and operation of liquid-argon time-projection chambers for neutrino physics has created a need for new approaches to pattern recognition in order to fully exploit the imaging capabilities offered by this technology. Whereas the human brain can excel at identifying features in the recorded events, it is a significant challenge to develop an automated, algorithmic solution. The Pandora Software Development Kit provides functionality to aid the design and implementation of pattern-recognition algorithms. It promotes the use of a multi-algorithm approach to pattern recognition, in which individual algorithms each address a specific task in a particular topology. Many tens of algorithms then carefully build up a picture of the event and, together, provide a robust automated pattern-recognition solution. This paper describes details of the chain of over one hundred Pandora algorithms and tools used to reconstruct cosmic-ray muon and neutrino events in the MicroBooNE detector. Metrics that assess the current pattern-recognition performance are presented for simulated MicroBooNE events, using a selection of final-state event topologies

Convolutional Neural Networks Applied to Neutrino Events in a Liquid Argon Time Projection Chamber

We present several studies of convolutional neural networks applied to data coming from the MicroBooNE detector, a liquid argon time projection chamber (LArTPC). The algorithms studied include the classification of single particle images, the localization of single particle and neutrino interactions in an image, and the detection of a simulated neutrino event overlaid with cosmic ray backgrounds taken from real detector data. These studies demonstrate the potential of convolutional neural networks for particle identification or event detection on simulated neutrino interactions. We also address technical issues that arise when applying this technique to data from a large LArTPC at or near ground level