In late April 2015, the River Dee Trust informed Marine Scotland Science, Fish Health Inspectorate (FHI), that there had been observations of dead and moribund European eels on the River Dee. Later ...in May, the Spey Fishery Board also reported a number of moribund European eels in a rotary screw smolt trap on the River Spey. In total, 10 cases involving moribund eels were investigated in 2015 and one case in 2016. In addition, a health screen was conducted to investigate the potential presence of Flavobacterium psychrophilum in healthy eels and Atlantic salmon from the River Dee in 2015. Externally, the diseased eels demonstrated white patches in different locations of the body. In all cases, F. psychrophilum was detected by bacterial isolation and/or molecular methods. Three isolates were further characterized by whole‐genome sequencing (WGS) as belonging to sequence type 15 (ST15). Histological examination of diseased European eels revealed lesions at the level of the integument. The pathogen screen for F. psychrophilum in wild healthy fish tested negative by PCR. Further investigation is required to understand the pathogenicity of this bacterium on the health of eels and the potential impact on the wild salmonid population.
Objective
Few and conflicting reports have characterized the genetics of paediatric pheochromocytomas and paragangliomas (PPGLs). This study aimed to investigate the clinical and genetic features of ...Brazilian children with PPGL.
Patients and Methods
This study included 25 children (52% girls) with PPGL. The median age at diagnosis was 15 years (4‐19). The median time of follow‐up was 145 months. The genetic investigation was performed by Sanger DNA sequencing, multiplex ligation‐dependent probe amplification and/or target next‐generation sequencing panel.
Results
Of the 25 children with PPGL, 11 (44%), 4 (16%), 2 (8%), 1 (4%) and 7 (28%) had germline VHL pathogenic variants, SDHB, SDHD, RET and negative genetic investigation, respectively. Children with germline VHL missense pathogenic variants were younger than those with SDHB or SDHD genetic defects median (range), 12 (4‐16) vs. 15.5 (14‐19) years; P = .027. Moreover, 10 of 11 cases with VHL pathogenic variants had bilateral pheochromocytoma (six asynchronous and four synchronous). All children with germline SDHB pathogenic variants presented with abdominal paraganglioma (one of them malignant). The two cases with SDHD pathogenic variants presented with head and neck paraganglioma. Among the cases without a genetic diagnosis, 6 and 2 had pheochromocytoma and paraganglioma, respectively. Furthermore, metastatic PPGL was diagnosed in four (16%) of 25 PPGL.
Conclusions
Most of the paediatric PPGL were hereditary and multifocal. The majority of the affected genes belong to pseudohypoxic cluster 1, with VHL being the most frequently mutated. Therefore, our findings impact surgical management and surveillance of children with PPGL.
Leigh syndrome is an early onset progressive disorder caused by defects in
mitochondrial oxidative phosphorylation. Pathogenic variants in nuclear and
mitochondrial genes are associated with the ...syndrome. Homozygous pathogenic
variants in the
C12orf65
gene impair the mitochondrial
oxidative phosphorylation system. We describe a new case of Leigh syndrome
caused by a novel pathogenic variant of the
C12orf65
gene
resulting in the lack of the Gly-Gly-Gln (GGQ) domain in the predicted protein,
and review clinical and molecular data from previously reported patients. Our
study supports that the phenotype caused by
C12orf65
gene
variants is heterogeneous and varies from spastic paraparesis to Leigh syndrome.
Loss-of-function variants are more likely to cause the disease, and variants
affecting the GGQ domain tend to be associated with more severe phenotypes,
reinforcing a possible genotype-phenotype correlation.
•Gibbula umbilicalis may be used as potential ecotoxicological marine model species.•Cholinesterase revealed to be a sensitive biomarker to Hg exposure.•The inhibition of cholinesterase may ...potentially predict population impacts.•Flipping time is a fast, non-invasive, cost-effective behavioral endpoint.•The link between enzymatic and higher level responses was established.
Mercury contamination is a common phenomenon in the marine environment and for this reason it is important to develop cost-effective and relevant tools to assess its toxic effects on a number of different species. To evaluate the possible effects of Hg in the sea snail Gibbula umbilicalis, animals were exposed to increasing concentrations of the contaminant in the ionic form for 96h. After this exposure period, mortality, feeding and flipping behavior, the activity of the biomarkers glutathione S-transferase, superoxide dismutase, catalase, lactate dehydrogenase and cholinesterase, the levels of lipid peroxidation and cellular energy allocation were measured. After 96h of exposure to the highest Hg concentration (≈LC20), there was a significant inhibition of the cholinesterase activity as well as impairment in the flipping behavior and post-exposure feeding of the snails. Cholinesterase inhibition was correlated with the impairment of behavioral responses also caused by exposure to Hg. These endpoints, including the novel flipping test, revealed sensitivity to Hg and might be used as relevant early warning indicators of prospective effects at higher biological organization levels, making these parameters potential tools for environmental risk assessment. The proposed test species showed sensitivity to Hg and proved to be a suitable and resourceful species to be used in ecotoxicological testing to assess effects of other contaminants in marine ecosystems.
To assess the incidence of intra-operative immediate hypersensitivity reactions and anaphylaxis.
A cross-sectional observational study was conducted at the Department of Anesthesiology, University of ...São Paulo School of Medicine, Hospital das Clínicas, São Paulo, Brazil, from January to December 2010. We developed a specific questionnaire to be completed by anesthesiologists. This tool included questions about hypersensitivity reactions during anesthesia and provided treatments. We included patients with clinical signs compatible with immediate hypersensitivity reactions. Hhypersensitivity reactions were categorized according to severity (grades I-V). American Society of Anesthesiologists physical status classification (ASA 1-6) was analyzed and associated with the severity of hypersensitivity reactions.
In 2010, 21,464 surgeries were performed under general anesthesia. Anesthesiologists answered questionnaires on 5,414 procedures (25.2%). Sixty cases of intra-operative hypersensitivity reactions were reported. The majority patients (45, 75%) had hypersensitivity reactions grade I reactions (incidence of 27.9:10,000). Fifteen patients (25%) had grade II, III or IV reactions (intra-operative anaphylaxis) (incidence of 7:10,000). No patients had grade V reactions. Thirty patients (50%) were classified as ASA 1. The frequency of cardiovascular shock was higher in patients classified as ASA 3 than in patients classified as ASA 1 or ASA 2. Epinephrine was administered in 20% of patients with grade III hypersensitivity reactions and in 50% of patients with grade II hypersensitivity reactions.
The majority of patients had hypersensitivity reactions grade I reactions; however, the incidence of intra-operative anaphylaxis was higher than that previously reported in the literature. Patients with ASA 3 had more severe anaphylaxis; however, the use of epinephrine was not prescribed in all of these cases. Allergists and anesthesiologists should implement preventive measures to reduce the occurrence of anaphylaxis.
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•Apicomplexan-like parasite was widespread in Pecten maximus around the Scottish coast.•The parasite does not appear to affect survival of king scallops at a low infection ...intensity.•There was no significant downgrade of the adductor muscle at low infection intensity.•The partial genome sequence was identical to one previously reported in Icelandic scallop.
The king scallop (Pecten maximus) is a commercially important species found around the United Kingdom coast. The association of an Apicomplexan-like parasite with mass mortality of Icelandic scallop (Chlamys islandica) in Iceland and the presence of identical parasites in king scallop (Pecten maximus) and queen scallop (Aequipecten opercularis) in Scotland raised serious concerns regarding the health of Scottish king scallops. Marine Scotland Science (MSS) conducted a survey in 2016 to assess the prevalence and the intensity of parasite infection in king scallops. King scallops were collected and sampled during the annual scallop dredge surveys in the Shetland Isles and the east and west coast of Scotland. The king scallop adductor muscle was macroscopically examined and tissue imprints taken to grade the intensity of infection. The parasite was present in the majority of the king scallops sampled in all surveyed areas: Shetland Isles 87.1%, east coast 76.0% and west coast of Scotland 64.1%. However, the parasitic infestations were light in intensity with the majority of the king scallops graded as 1 (≤20 zoites per microscopic field). No macroscopic changes in the adductor muscle were observed and histopathology examination revealed minor localized fiber degeneration of adjacent fibers to parasite clusters. The results suggested the parasite to be widespread around the Scottish coast and it appears to be able to live within the king scallop at low intensity of infection without causing significant downgrade of the adductor muscle (in terms of colour or texture) or mortality. The partial genome sequence of the parasite in king scallops from Scottish waters was identical to the one reported by Kristmundsson and Freeman (2018) in the Icelandic scallop in Icelandic waters.
A Brazilian fox (
Lycalopex vetulus
) was rescued from a highway, and 16 days after maintained in captivity, the fox shed oocysts with sizes compatible with
Hammondia
sp. and
Neospora caninum.
DNA ...extracted from oocysts were initially tested in two PCRs targeting the internal transcribed spacer 1 (ITS-1) of the rDNA of
Hammondia heydorni
and the Nc-5 gene of
N. caninum
. A 270-bp product was visualized in the PCR for
H. heydorni
. No amplification was observed for
N. caninum
PCR. Since ITS-1-based PCR is not sufficient to differentiate
Hammondia
species derived from canids, oocyst DNA was examined using multilocus sequence analysis of five genetic fragments intron 1 of the alpha tubulin gene (intron 1), internal transcribed spaces 1 and 2 (ITS-1 and ITS-2) of the rDNA, 28S rRNA gene (D2/D3 domain), and heat shock protein 70 (Hsp70). The
Hammondia
sp. oocyst from the Brazilian fox, referred here as H-FOXBR isolate, is closely related to
H. heydorni
and
Hammondia triffittae
, but differs from these parasites in three genetic markers (alpha tubulin gene, ITS-2, and 28S rRNA). As reported by other research groups,
Hammondia
spp. excreted by canids are genetically diverse and may encompass additional species besides
H. heydorni and H. triffittae
. In this study, we confirmed that H-FOXBR has significant genetic differences in comparison to
H. heydorni
and
H. triffittae
and may represent a separate species. Further studies are needed to identify the life cycle of this parasite and to characterize the parasite stages in the intermediate and definitive hosts.
The use of robots is increasing in different industries, as in the case of large metal structures. The use of mobile robots meets the needs of these industries: it can be easily moved in the ...production line, with gains in repeatability and process efficiency, reducing rework costs. The poor configuration of the robotic and welding system generates problems in the internal structure and the surface of the weld, thus compromising the final quality of the piece. Visual inspections are common to identify problems that may have occurred during these processes. Inspections that use x-rays, ultrasound, or thermal cameras require additional equipment and highly trained inspectors to analyze the results and detect problems. This work presents a computer vision system based on a passive monocular camera for analysis of weld bead textures. Images of weld beads with and without discontinuities are captured and a dimensional reduction algorithm known as Principal Component Analysis (PCA) is applied to select the main characteristics that describe each group. Afterward, the Support Vector Machine (SVM) supervised learning method is applied to recognize the patterns of image groups, making it possible to classify new images of weld beads as welds with or without discontinuities. The system makes use of the same camera coupled to the robot responsible for conducting the welding, without the need for additional sensors, and assists the welding inspector in the evaluation of the performed process.
Mycobacterium leprae and Mycobacterium tuberculosis antimicrobial resistance has been followed with great concern during the last years, while the need for new drugs able to control leprosy and ...tuberculosis, mainly due to extensively drug-resistant tuberculosis (XDR-TB), is pressing. Our group recently showed that M. leprae is able to induce lipid body biogenesis and cholesterol accumulation in macrophages and Schwann cells, facilitating its viability and replication. Considering these previous results, we investigated the efficacies of two statins on the intracellular viability of mycobacteria within the macrophage, as well as the effect of atorvastatin on M. leprae infections in BALB/c mice. We observed that intracellular mycobacteria viability decreased markedly after incubation with both statins, but atorvastatin showed the best inhibitory effect when combined with rifampin. Using Shepard's model, we observed with atorvastatin an efficacy in controlling M. leprae and inflammatory infiltrate in the BALB/c footpad, in a serum cholesterol level-dependent way. We conclude that statins contribute to macrophage-bactericidal activity against Mycobacterium bovis, M. leprae, and M. tuberculosis. It is likely that the association of statins with the actual multidrug therapy effectively reduces mycobacterial viability and tissue lesion in leprosy and tuberculosis patients, although epidemiological studies are still needed for confirmation.
Welding is an important process in the industrial scenario, especially in the shipbuilding industry. This process is recognized by the laborious work and the hazardous work environment. The use of ...robots to automate the welding process can reduce the human interference and improve the productivity. This paper proposes a system for automated seam tracking based on passive monocular vision. The vision provides a data feedback to the automated robotic welding system allowing quality and productivity gains. A trajectory controller is developed to correct the robot's movement over the seam reference. The controller and a visual algorithm to find the seam reference in a real Gas Metal Arc Welding (GMAW) process are presented. The proposed system allows the automated seam tracking, the trajectory control of the welding torch, and a higher automation level in linear robotic welding. The capabilities of the method is evaluated using a commercial linear welding robot showing its viability.