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The number of genes that were investigated in each study ranged from 1 to 32, the most frequent being FUS, OPTN, SETX and VCP. NGS identified already known mutations in 21 genes, and new or rare variants in 27 genes. CONCLUSIONS NGS seems to be a promising tool for the diagnosis of ALS in routine clinical practice. Its advantages are represented by an increased speed and a lowest sequencing cost, but patients'counseling could be problematic due to the discovery of frequent variants of unknown significance. This article is protected by copyright. All rights reserved.Typically, laboratory studies on the physiological effects of temperature are conducted using stable acclimation temperatures. However, information extrapolated from these studies may not accurately represent wild populations living in thermally variable environments. Our objective was to compare the growth, metabolism, and swimming performance of wild Atlantic salmon exposed to cycling 16-21o C, and stable 16o C, 18.5o C, 21o C acclimation temperatures. Growth rate, metabolic rate, swimming performance, and anaerobic metabolites did not change among acclimation groups, suggesting that within Atlantic salmon's thermal optimum range, temperature variation has no effect on these physiological properties. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.The sex determination system of Atlantic herring Clupea harengus L., a commercially important fish, was investigated. Low coverage whole genome sequencing of 48 females and 55 males and a genome-wide association study revealed two regions on chromosomes 8 and 21 associated with sex. The genotyping data of the single nucleotide polymorphisms associated with sex showed that 99.4% of the available female genotypes were homozygous, whereas 68.6% of the available male genotypes were heterozygous. This is close to the theoretical expectation of homo/heterozygous distribution at low sequencing coverage when the males are factually heterozygous. This suggested a male heterogametic sex determination system in C. harengus, consistent with other species within the Clupeiformes group. There were 76 protein coding genes on the sex regions but none of these genes were previously reported master sex regulation genes, or obviously related to sex determination. However, many of these genes are expressed in testis or ovary in other species, but the exact genes controlling sex determination in C. harengus could not be identified. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.Female mate choice has strong experimental support as a diversifying force in the speciation of the haplochromine cichlid fishes of Lake MalaŴi, Africa. Somewhat less understood is the role that male-male aggression might have played in the evolution of new species of these fishes. In the rock-dwelling haplochromines of Lake MalaŴi, it is primarily territory-holding males that successfully court females; by determining which males gain territories, male-male aggression could support speciation by excluding less fit males from the breeding population. In order to test the hypothesis that males should direct more aggression towards conspecific rivals, we compared the aggression directed towards conspecific and heterospecific opponents in a sympatric pair of cichlids of the genus Labeotropheus Ahl 1927 (L. Selleckchem LY294002 fuelleborni Ahl 1927 and L. trewavasae Fryer 1956). We found that, when presented with a pair of rivals, males of both species did direct more aggression towards the conspecific opponent, and the amount of aggression was increased when the conspecific opponent was larger than the heterospecific opponent. Additionally, we found a difference in the behavioural repertoire of the species L. fuelleborni tends to rely on displays to intimidate opponents, while L. trewavasae employs more physical attacks to drive away opponents. Males of both species can thus recognize conspecifics and assess an opponent's relative threat to their ability to successfully reproduce, and use species-specific strategies to intimidate opponents. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.BACKGROUND T regulatory type 1 (Tr1) cells are a class of regulatory T cells participating in peripheral tolerance, hence the rationale behind their testing in clinical trials in different disease settings. One of their applications is tolerance induction to allogeneic islets for long-term diabetes-free survival. Currently the cellular and molecular mechanisms that promote Tr1-cell induction in vivo remain poorly understood. METHODS We employed a mouse model of transplant tolerance where treatment with G-CSF/Rapamycin induces permanent engraftment of allogeneic pancreatic islets in C57BL/6 mice via Tr1 cells. The innate composition of graft and spleen cells in tolerant mice was analyzed by flow cytometry. Graft phagocytic cells were co-cultured with CD4+ T cells in vitro to test their ability to induce Tr1-cell induction. Graft phagocytic cells were depleted in vivo at different time points during G-CSF/rapamycin treatment, to identify their role in Tr1-cell induction and consequently in graft survival. RESUL This work gives mechanistic insight into pharmacologically-induced Tr1-cell expansion in vivo in this stringent model of allogeneic transplantation. This article is protected by copyright. All rights reserved.This article describes new Swedish guidelines for the care of adult patients having a tracheostomy. A national expert panel of ENT and anaesthesiology specialists appointed by each national specialist association reviewed fatal patient cases involving tracheostomy failure as well as national and international guidelines to produce a "best of practice" document. The main recommendation is that the health care provider has the full responsibility to ensure that the combined surgical competence at the hospital can handle acute airway problems also under difficult anatomical conditions. The distribution of percutaneous and surgical tracheotomy should be weighted to ensure the competence in both.Coronavirus Disease 2019 (COVID-19) can cause severe respiratory failure and distressing symptoms including fever, cough, breathlessness and anxiety. Symptomatic (palliative) treatment is of fundamental importance both in conjuncture with life-sustaining interventions and in end of life care. Based on the evidence to date, there are several treatment options to consider for the relief of fever (acetaminophen, NSAID, oral glucocorticoids), cough (morphine), breathlessness (morphine, oxygen, fan), anxiety (benzodiazepines) and pain (NSAID, morphine). Top priorities include precautions to protect staff and people at-risk from infection and planning how to provide adequate treatment for each individual depending on setting, including palliative care.Healthcare-associated infections (HAI) are the most common adverse events in healthcare. The aim of this study was to explore the prevalence of HAI and associated risk factors among in-patients in somatic care in Stockholm County Council (SCC) 2008-2018. In each yearly point prevalence survey 3200-3800 patients were registered. Epi Info™ software was used for statistical analysis. There were significant decreases in prevalence of HAI 15.3-7.3% (RR 0.47 [95% CI 0.41-0.54] p less then 0.01), indwelling urinary catheter (IUC) 24.3-21.7% (RR 0.89 [95% CI 0.82-0.97] p=0.01) and central venous catheter 13.8-10.7% (RR 0.78 [95% CI 0.69-0.88] p less then 0.01). Among carriers of IUC there was a significant decrease in prevalence of urinary tract infection 11.4-4.1% (RR 0.36 [95% CI 0.22-0.59] p less then 0.01). After analyzing potential confounders we believe that the improvement is true. Repeated point prevalence surveys could have contributed to raising awareness about HAI.The development of vaccines against SARS-CoV-2 is progressing at an unparalleled speed. As of the 29th of March, there were at least 68 vaccine candidates comprising several different vaccine designs, including whole killed virus, subunit, attenuated, viral vector, DNA and mRNA vaccines. Whilst it usually takes 10-15 years to develop a vaccine, it has only taken just over 9 weeks from the publication of the viral genetic sequence for the first vaccine candidate to reach clinical testing. Development has been expediated by using existing technological platforms and by performing preclinical and clinical testing simultaneously.Anti-LGI-1 encephalitis is a type of autoimmune encephalopathy, where antibodies react against the cell surface protein leucine-rich glioma inactivated protein 1 (LGI-1). It presents with a subacute confusion, changes in behaviour, short-term memory deficits and seizures. A piloerectile semiology is common, which has been described as reflecting insular ictal activity. Patients may have temporal lobe abnormalities on brain MRI and EEG. More than half of the patients with limbic encephalitis associated with anti-LGI1 antibodies have hyponatremia. The diagnosis of anti-LGI-1 encephalitis can be made by the detection of antibodies against LGI-1 in serum and/or cerebrospinal fluid. Prompt diagnosis and treatment are important to avoid long-term disability. This case report describes a man with episodes of goose bumps and mild confusion caused by anti-LGI-1 encephalitis.The tripartite motif (TRIM) family is a family of proteins with highly conserved domains. Previous researches have suggested that the members of TRIM family proteins played a crucial role in cancer development and progression. Our study explored the relationship between TRIM35 and non-small cell lung cancer (NSCLC). The study showed that the expression of TRIM35 was increased in NSCLC samples, and patients with high expression of TRIM35 had a poor clinical prognosis. Overexpression of TRIM35 in NSCLC cell line H460 promoted cell proliferation, migration, and invasion, knockdown of TRIM35 produced an opposite result in A549 and H1299 cell lines. In vivo study further confirmed that overexpression of TRIM35 promoted tumor formation. The RNA-seq analysis suggested that TRIM35 might promote lung cancer proliferation, migration, and invasion by regulating cancer-associated functions and signaling pathways. Hence, we identified TRIM35 played a significant role in tumoral growth and was a potential diagnosis and prognosis target for lung cancer. © 2020 The Author(s).Genetic variation occurring within conserved functional protein domains warrants special attention when examining DNA variation in the context of disease causation. Here we introduce a resource, freely available at www.prot2hg.com, that addresses the question of whether a particular variant falls onto an annotated protein domain and directly translates chromosomal coordinates onto protein residues. The tool can perform a multiple-site query in a simple way, and the whole dataset is available for download as well as incorporated into our own accessible pipeline. To create this resource, National Center for Biotechnology Information protein data were retrieved using the Entrez Programming Utilities. After processing all human protein domains, residue positions were reverse translated and mapped to the reference genome hg19 and stored in a MySQL database. In total, 760 487 protein domains from 42 371 protein models were mapped to hg19 coordinates and made publicly available for search or download (www.prot2hg.com).
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