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PurposeAtaxia-Telangiectasia Mutated (ATM) has been implicated in the risk of several cancers, but establishing a causal relationship is often challenging. Although ATM single-nucleotide polymorphisms have been linked to melanoma, few functional alleles have been identified. Therefore, ATM impact on melanoma predisposition is unclear.MethodsFrom 22 American, Australian, and European sites, we collected 2,104 familial, multiple primary (MPM), and sporadic melanoma cases who underwent ATM genotyping via panel, exome, or genome sequencing, and compared the allele frequency (AF) of selected ATM variants classified as loss-of-function (LOF) and variants of uncertain significance (VUS) between this cohort and the gnomAD non-Finnish European (NFE) data set.ResultsLOF variants were more represented in our study cohort than in gnomAD NFE, both in all (AF = 0.005 and 0.002, OR = 2.6, 95% CI = 1.56-4.11, p

The pearl oyster Pinctada radiata is an iconic species in the Arabian Gulf, which is one of the ecosystems most at risk in the world because of the multiple sources of pollution it faces. Alongside chemical pollution, the Gulf is ranked first with regard to noise and light pollution, and pearl oyster populations are at risk. The impact of these latter types of pollution on marine invertebrates is still poorly known. We used the difference in noise and brightness that can exist between a very quiet room without artificial lighting and a standard laboratory room equipped with a standard aquarium as a testbed to explore the possible impact of noise and light pollution on the behavioral and biological traits of Pinctada radiata without added chemical exposure. During an experiment that lasted 2.5 months, we analyzed their grouping behavior, valve activity, biological rhythm, growth rate and spawning activity. In the standard aquarium kept in the laboratory room, the oysters dispersed instead of regrouping as in their natural environment, regrouping which was observed in the quiet room. They stayed closed longer, the opening amplitude of their valves was systematically lower, and in the closed position, they squeezed their valves more tightly when subjected to noise and light pollution. Their daily opening rhythm was strongly structured by switching the electric light on and off, and females showed significantly less egg-laying behavior. In conclusion, seemingly innocuous human activities can lead to very significant alterations in pearl oyster behavior. We propose that it could have significant effects on populations and ecosystems.

The ecological state of the Persian or Arabian Gulf (hereafter ‘Gulf') is in sharp decline. Calls for comprehensive ecosystem-based management approaches and transboundary conservation have gone largely unanswered, despite mounting marine threats made worse by climate change. The region's long-standing political tensions add additional complexity, especially now as some Gulf countries will soon adopt ambitious goals to protect their marine environments as part of new global environmental commitments. The recent interest in global commitments comes at a time when diplomatic relations among all Gulf countries are improving. There is a window of opportunity for Gulf countries to meet global marine biodiversity conservation commitments, but only if scientists engage in peer-to-peer diplomacy to build trust, share knowledge and strategize marine conservation options across boundaries. The Gulf region needs more ocean diplomacy and coordination; just as critically, it needs actors at its science-policy interface to find better ways of adapting cooperative models to fit its unique marine environment, political context and culture. We propose a practical agenda for scientist-led diplomacy in the short term and lines of research from which to draw (e.g. co-production, knowledge exchange) to better design future science diplomacy practices and processes suited to the Gulf's setting.

Abstract Marine habitats are Earth's largest aquatic ecosystems, yet little is known about marine organism's genomes. Molecular studies can unravel their genetics print, thus shedding light on specie's adaptation and speciation with precise authentication. However, extracting high molecular weight DNA from marine organisms and subsequent DNA library preparation for whole genome sequencing is challenging. The challenges can be explained by excessive metabolites secretion that co‐precipitates with DNA and barricades their sequencing. In this work, we sought to resolve this issue by describing an optimized isolation method and comparing its performance with the most commonly reported protocols or commercial kits: SDS/phenol–chloroform method, Qiagen Genomic Tips kit, Qiagen DNeasy Plant mini kit, a modified protocol of Qiagen DNeasy Plant kit, Qiagen DNeasy Blood and Tissue kit, and Qiagen Qiamp DNA Stool mini kit. Our method proved to work significantly better for different marine species regardless of their shape, consistency, and sample preservation, improving Oxford Nanopore Technologies sequencing yield by 39 folds for Spirobranchus sp. and enabling generation of almost 10 GB data per flow cell/run for Chrysaora sp. and Palaemon sp. samples.

The production of carotenoids by microbial organisms has gained significant interest due to the growing demand for natural products. Among the non-model oleaginous red yeasts, Rhodotorula toruloides stands out as an appealing host for natural carotenoid production. R. toruloides possesses the natural ability to metabolize a wide range of substrates, including lignocellulosic hydrolysates, and convert them into lipids and carotenoids. In this study, we focused on utilizing xylose, the main component of hemicellulose, as the major substrate for R. toruloides. We conducted a comprehensive kinetic evaluation to examine the impact of aeration and agitation on carotenoid production. Results in stirred-tank reactor demonstrated that under milder conditions (300 rpm and 0.5 vvm), R. toruloides accumulated over 70% of its cell mass as lipids. Furthermore, the highest carotenoid yields were achieved at high agitation rates (700 rpm), with carotenoid levels reaching nearly 120 µg/mL. Several carotenoids were identified, including β-carotene, γ-carotene, torularhodin, and torulene, with β-carotene being the major carotenoid, accounting for up to 70% of the total carotenoid content. The carotenoid-rich extract produced by R. toruloides under evaluated conditions was successfully incorporated into soap formulations, demonstrating the addition of antioxidant properties. This work provides a comprehensive understanding of xylose conversion into natural carotenoids by R. toruloides, presenting a promising avenue for their application in cosmetics. Furthermore, this study highlights the potential of a renewable and cost-effective approach for carotenoid production in the soap industry.

Abstract Fault current limiters are essential devices used to protect the power system and its equipment against high levels of fault current, which are growing up due to the increase of new power sources. This paper proposes a novel design of a Hybrid Superconducting Fault Current Limiter (Hybrid SFCL), which is composed basically by thyristors in series with a superconducting element. This branch is connected in parallel to an air-core reactor, which improves limitation and ensures the safe operation of the superconductor element. Another advantage of this topology is the use of the voltage drop in the superconductor as an input parameter to the controller. This voltage is used to detect the fault, which avoids the need for a current sensor and, consequently, reduces the manufacturing costs. In this work, the PSCAD/EMTDC software was employed to modeling the Hybrid SFCL and the 2G superconducting tape, which was modeled considering the thermal-electrical analysis. The results show that the fault current is efficiently limited, and the developed controller strategy has shown a relatively good performance. Furthermore, the proposed system guarantees a fast recovery time, in the order of 500 ms, which is a good advantage when compared to the conventional resistive SFCL.

IntroductionThe aim of this study was to describe and evaluate a novel plate designed specifically for the canine ilium using finite element methods. The cranial portion of the plate had an elliptical shape and contained nine screw holes. The caudal portion of the plate was triangular with three screw holes. Four and three screws were used at the cranial (screw 1 to 4) and caudal (screw 5 to 7) segment of the plate. Finite element models of the plate and canine pelvis were created. A load of 300 N was applied on the femur-hip joint contact area. Values of Von Mises Stress on the plate, screws and the maximum and minimum main stresses in the bone were used to capture the mechanical factors in this study.ResultsThe novel implant had a plate stress of 51.9 megapascals (MPa) with higher stress in the dorsal part of the plate. Screws 2 and 4 showed similar stress values of 17.3 MPa. Screws 1 and 3 were the most loaded (51.9 MPa and 75 MPa, respectively). Screws 5, 6, and 7 showed similar dissipation and stress values (21.55 MPa). There was traction force in the dorsal region of the pubis and compression in the ventral part, with dissipation and values of 15.4 MPa and 23.9 MPa, respectively, acquiring balance between them.ConclusionThe novel plate is potentially applicable and specifically suitable for iliac fractures in dogs. The screws distribution modeled proved itself strategical since the simulated stresses were evenly distributed throughout the implant construct.

Abstract The use of modified tibial plateau leveling osteotomy adapted for correction of the lateral patellar dislocation was effective, allowing simultaneous treatment of lateral patellar luxation and cranial cruciate ligament deficiency.

ABSTRACT: The purpose of this study was to evaluate the effects of lumbar myelography on subarachnoid pressure, cardiorespiratory parameters and pressure-volume index in sheep. Eight sheep were evaluated. The animals were submitted to puncture of the cisterna magna for monitoring of subarachnoid pressure (SaP). Lumbar myelography was performed through applying Iohexol (0.4mL/kg). ToC, PAS, PAD, MAP, InspISO, FeISO, SaP and CPP were recorded immediately after anesthetic stabilization (M0), during lumbar puncture (M1), and two, four and six minutes after contrast application (M2, M3 and M4, respectively). Blood pressure initially increased, then decreased, returning to basal level, similarly observed for InspISo and FeISo. The SaP rose initially thereafter remaining stable. Despite of the effect on subarachnoid pressure, lumbar myelography can be considered safe in sheep.

Brucella species include important zoonotic pathogens that have a substantial impact on both agriculture and human health throughout the world. Brucellae are thought of as "stealth pathogens" that escape recognition by the host innate immune response, modulate the acquired immune response, and evade intracellular destruction. We analyzed the genome sequences of members of the family Brucellaceae to assess its evolutionary history from likely free-living soil-based progenitors into highly successful intracellular pathogens. Phylogenetic analysis split the genus into two groups: recently identified and early-dividing "atypical" strains and a highly conserved "classical" core clade containing the major pathogenic species. Lateral gene transfer events brought unique genomic regions into Brucella that differentiated them from Ochrobactrum and allowed the stepwise acquisition of virulence factors that include a type IV secretion system, a perosamine-based O antigen, and systems for sequestering metal ions that are absent in progenitors. Subsequent radiation within the core Brucella resulted in lineages that appear to have evolved within their preferred mammalian hosts, restricting their virulence to become stealth pathogens capable of causing long-term chronic infections.

ABSTRACT Background Triatoma infestans (Hemiptera: Reduviidae) is a hematophagous insect and the main vector of Trypanosoma cruzi (Kinetoplastida: Trypanosomatidae). In the present study, the authors investigated whether a serine protease activity from the saliva of T. infestans has a role in vasomotor modulation, and in the insect-blood feeding by cleaving and activating protease-activated receptors (PARs). Methods T. infestans saliva was chromatographed as previously reported for purification of triapsin, a serine protease. The cleavage activity of triapsin on PAR peptides was investigated based on FRET technology. Mass spectrometry was used to analyze the sites of PAR-2 peptide cleaved by triapsin. NO measurements were performed using the DAN assay (2,3-diaminonapthalene). The vasorelaxant activity of triapsin was measured in vessels with or without functional endothelium pre-contracted with phenylephrine (3 µM). Intravital microscopy was used to assess the effect of triapsin on mouse skin microcirculation. Results Triapsin was able to induce hydrolysis of PAR peptides and showed a higher preference for cleavage of the PAR-2 peptide. Analysis by mass spectrometry confirmed a single cleavage site, which corresponds to the activation site of the PAR-2 receptor. Triapsin induced dose-dependent NO release in cultured human umbilical vein endothelial cells (HUVECs), reaching a maximum effect at 17.58 nM. Triapsin purified by gel-filtration chromatography (10-16 to 10-9 M) was applied cumulatively to mouse mesenteric artery rings and showed a potent endothelium-dependent vasodilator effect (EC30 = 10-12 M). Nitric oxide seems to be partially responsible for this vasodilator effect because L-NAME (L-NG-nitroarginine methyl ester 300 µM), a nitric oxide synthetase inhibitor, did not abrogate the vasodilation activated by triapsin. Anti-PAR-2 antibody completely inhibited vasodilation observed in the presence of triapsin activity. Triapsin activity also induced an increase in the mouse ear venular diameter. Conclusion Data from this study suggest a plausible association between triapsin activity mediated PAR-2 activation and vasodilation caused by T. infestans saliva.

Draft genome sequences have been determined for the soybean pathogen Phytophthora sojae and the sudden oak death pathogen Phytophthora ramorum. Oömycetes such as these Phytophthora species share the kingdom Stramenopila with photosynthetic algae such as diatoms, and the presence of many Phytophthora genes of probable phototroph origin supports a photosynthetic ancestry for the stramenopiles. Comparison of the two species' genomes reveals a rapid expansion and diversification of many protein families associated with plant infection such as hydrolases, ABC transporters, protein toxins, proteinase inhibitors, and, in particular, a superfamily of 700 proteins with similarity to known oömycete avirulence genes.