Chimera: a Bioconductor package for secondary analysis of fusion products

Chimera is a Bioconductor package that organizes, annotates, analyses and validates fusions reported by different fusion detection tools; current implementation can deal with output from bellerophontes, chimeraScan, deFuse, fusionCatcher, FusionFinder, FusionHunter, FusionMap, mapSplice, Rsubread, tophat-fusion and STAR. The core of Chimera is a fusion data structure that can store fusion events detected with any of the aforementioned tools. Fusions are then easily manipulated with standard R functions or through the set of functionalities specifically developed in Chimera with the aim of supporting the user in managing fusions and discriminating falsepositive results

The presence of the brown bear (Ursus arctos, L.) in the north eastern Alps (Friuli Venezia Giulia region) in relation to the Alpine metapopulation

The North Eastern Alps (Friuli Venezia Giulia Region) represent a peripheral area of presence of the Dinaric population (for the North Dinaric population, Slovenia, 400-450 individuals estimated) of the Brown Bear; in this area in the last years some individuals has started to come from Trentino population (40-45 individuals estimated) and to use this areas. In previous 114 researches this area has been considered one of the most suitable areas, in the alps, for supporting the alpine brown bear population and for enhancing the creation of the alpine metapopulation. From 2004 to the 2013 in mountains areas of the Friuli Venezia Giulia has been studied (2500 km2) the presence of the Brown Bear with different techniques: the genetic sampling (by opportunistic and systematic methods), photo interpretation and behavioral analysis and radiotelemetry. The genetic samplings have been obtained by the hair traps (50 permanent hair traps plus 80 temporary and moving hair traps) and by opportunistic techniques. By the genetic analysis it has detected the presence, from 2004, of 21 different genotypes (4 from Trentino and 17 from the Dinaric population, 3 of them studied by telemetry), all of them were males. The number of genotypes detected in different year has showed a cyclic pattern, with a increment in the last year, due to dispersing individuals from Dinaric source population; in different years, from 3 to 8 (2013), different genotypes have been detected, with a evident turnover. The median time of presence (years of sampling), for each genotypes, was 2 years, and only 6 genotypes have been sampled for 3 or more years (1 from Trentino); 10 genotypes have been sampled in only one year. Despite to the increment of the Trentino population and the high density of the Dinaric populations, in the north eastern alps the process of immigration and colonization appears to be slow and intermittent and seems correlated more to the demographic aspects (i.e localization and philopatry of the females, now present only in the Alpine and Dinaric areas of Slovenia and on the right side of Adige river, in Trentino), management of the Dinaric population, dispersal behavior and presence of not permeable infrastructure (high way Ljubljana-Trieste) rather than the ecological values of the areas

Glutathione-S-transferase subtypes α and π as a tool to predict and monitor graft failure or regeneration in a pilot study of living donor liver transplantation

<p>Abstract</p> <p>Objective</p> <p>Glutathione-S-Transferase (GST) subtype α and π are differentially expressed in adult liver tissue. Objective of the study was if GST α and p may serve as predictive markers for liver surgery, especially transplantations.</p> <p>Methods</p> <p>13 patients receiving living donor liver transplantation (LDLT) and their corresponding donors were analyzed for standard serum parameters (ALT, AST, gGT, bilirubin) as well as GST-α and -π before LDLT and daily for 10 days after LDLT. Patients (R) and donors (D) were grouped according to graft loss (R1/D1) or positive outcome (R2/D2) and above named serum parameters were compared between the groups.</p> <p>Results</p> <p>R1 showed significantly increased GST-α and significantly lower GST-π levels than R2 patients or the donors. There was a positive correlation between GST-α and ALT, AST as well as bilirubin and a negative correlation to γGT. However, γGT correlated positively with GST-π. Graft failure was associated with combined low GST-π levels in donors and their recipients before living donor liver transplantation.</p> <p>Conclusion</p> <p>Our data suggest that high GST-α serum levels reflect ongoing liver damage while GST-P indicates the capacity and process of liver regeneration. Additionally, GST-π may be useful as marker for optimizing donor and recipient pairs in living donor liver transplantation.</p

Inheritance of chromosome 7 is associated with a drug-resistant phenotype in somatic cell hybrids.

A major form of drug resistance in tumour cells known as classical multidrug resistance (MDR) is associated with the overexpression of the mdr1 gene product, the membrane protein P-glycoprotein (P-gp), which acts as an energy-dependent drug efflux pump. In this study the inheritance of P-gp expression was examined using hybrids formed after somatic cell fusion between a drug-sensitive human T-cell leukaemia cell line, CEM/CCRF, and a drug-resistant derivative, CEM/A7, which is characterized by a clonal chromosomal duplication dup(7)(q11.23q31.2). Fourteen hybrids, chosen at random, were analysed by reverse transcriptase-polymerase chain reaction (RT-PCR) and by binding studies involving the monoclonal antibody MRK16, which recognises an external P-gp epitope. Only two hybrids were positive for both MRK16 antibody labelling and mdr1 mRNA. Partial karyotypic analysis of all hybrids revealed that only the MRK16-positive hybrids contained the duplication in chromosome 7 seen in the CEM/A7 parental MDR line. Therefore, P-gp overexpression in the MRK16-positive hybrids may be linked to the inheritance of chromosome 7 from CEM/A7 and possibly associated with the chromosome 7 abnormality

Sala Vertebrados Acuáticos

Los vertebrados están representados en la naturaleza por alrededor de 62.000 especies, de las cuales más del 40 % vive en ambientes acuáticos y la mayoría corresponde a los peces. En esta sala pueden contemplarse varias de las especies pertenecientes al grupo mencionado junto a reptiles, anfibios, aves y mamíferos. En las vitrinas laterales se observan peces de importancia comercial y recreativa, tanto marinos como de agua dulce, y sus fondos tratan de representar los ambientes en los que habitan. Entre ellos se destaca el manguruyú, que es la especie de mayor tamaño de los ríos de Argentina; el dorado, muy apreciado en la pesca recreativa; la particular mojarra desnuda, especie amenazada, que vive en un área restringida y es el pez emblema de la ictiología nacional.Serie Moradores del Museo | División Zoología VertebradosFacultad de Ciencias Naturales y Muse

Sala Vertebrados Acuáticos

Los vertebrados están representados en la naturaleza por alrededor de 62.000 especies, de las cuales más del 40 % vive en ambientes acuáticos y la mayoría corresponde a los peces. En esta sala pueden contemplarse varias de las especies pertenecientes al grupo mencionado junto a reptiles, anfibios, aves y mamíferos. En las vitrinas laterales se observan peces de importancia comercial y recreativa, tanto marinos como de agua dulce, y sus fondos tratan de representar los ambientes en los que habitan. Entre ellos se destaca el manguruyú, que es la especie de mayor tamaño de los ríos de Argentina; el dorado, muy apreciado en la pesca recreativa; la particular mojarra desnuda, especie amenazada, que vive en un área restringida y es el pez emblema de la ictiología nacional.Serie Moradores del Museo | División Zoología VertebradosFacultad de Ciencias Naturales y Muse

Sala Vertebrados Acuáticos

Los vertebrados están representados en la naturaleza por alrededor de 62.000 especies, de las cuales más del 40 % vive en ambientes acuáticos y la mayoría corresponde a los peces. En esta sala pueden contemplarse varias de las especies pertenecientes al grupo mencionado junto a reptiles, anfibios, aves y mamíferos. En las vitrinas laterales se observan peces de importancia comercial y recreativa, tanto marinos como de agua dulce, y sus fondos tratan de representar los ambientes en los que habitan. Entre ellos se destaca el manguruyú, que es la especie de mayor tamaño de los ríos de Argentina; el dorado, muy apreciado en la pesca recreativa; la particular mojarra desnuda, especie amenazada, que vive en un área restringida y es el pez emblema de la ictiología nacional.Serie Moradores del Museo | División Zoología VertebradosFacultad de Ciencias Naturales y Muse

Liver transplantation for patients with acute-on-chronic liver failure (ACLF) in Europe: Results of the ELITA/EF-CLIF collaborative study (ECLIS)

BACKGROUND AND AIMS: Liver transplantation (LT) has been proposed to be an effective salvage therapy even for the sickest patients with acute-on-chronic liver failure (ACLF). This large collaborative study was designed to address the current clinical practice and outcomes of ACLF patients wait listed (WL) for LT in Europe. METHODS: Retrospective study including 308 consecutive ACLF patients, listed in 20 centres across 8 European countries, from January 2018 to June 2019. RESULTS: 2677 patients received a LT, 1216 (45.4%) for decompensated cirrhosis (DC). Of these, 234 (19.2%) had ACLF at LT: ACLF-1, 58 (4.8%); ACLF-2, 78 (6.4%); and ACLF-3, 98 (8.1%). Wide variations were observed amongst countries: France and Germany had high rates of ACLF-2/3 (27-41%); Italy, Switzerland, Poland and Netherlands had medium rates (9-15%); and United Kingdom and Spain had low rates (3-5%) (p 4 mmol/L (HR 3.14, 95% CI 1.37-7.19), recent infection from multi-drug resistant organisms (HR 3.67, 95% CI 1.63-8.28), and renal replacement therapy (HR 2.74, 95% CI 1.37-5.51) were independent predictors of post-LT mortality. During the same period, 74 patients with ACLF died on the WL. In an intention-to-treat analysis, one-year survival of ACLF patients on the LT WL was 73% for ACLF-1 or -2 and 50% for ACLF-3. CONCLUSION: The results reveal wide variations in listing patients with ACLF in Europe despite favorable post-LT survival. Risk factors for mortality were identified, allowing a more precise prognostic assessment of ACLF patients for potential LT. LAY SUMMARY: Acute on chronic liver failure (ACLF) is a severe clinical condition for which liver transplantation is an effective therapeutic option. This study has demonstrated that in Europe, referral and access to liver transplantation (LT) for patients with ACLF needs to be harmonized to avoid inequities. Post-LT survival for patients with ACLF was >80% after 1 year and some factors have been identified for selecting patients with favorable outcomes

The genetic basis of a social polymorphism in halictid bees

The emergence of eusociality represents a major evolutionary transition from solitary to group reproduction. The most commonly studied eusocial species, honey bees and ants, represent the behavioral extremes of social evolution but lack close relatives that are non-social. Unlike these species, the halictid bee Lasioglossum albipes produces both solitary and eusocial nests and this intraspecific variation has a genetic basis. Here, we identify genetic variants associated with this polymorphism, including one located in the intron of syntaxin 1a (syx1a), a gene that mediates synaptic vesicle release. We show that this variant can alter gene expression in a pattern consistent with differences between social and solitary bees. Surprisingly, syx1a and several other genes associated with sociality in L. albipes have also been implicated in autism spectrum disorder in humans. Thus, genes underlying behavioral variation in L. albipes may also shape social behaviors across a wide range of taxa, including humans

The protective effect of human renal sinus fat on glomerular cells is reversed by the hepatokine fetuin-A

Renal sinus fat (RSF) is a perivascular fat compartment located around renal arteries. In this in vitro and in vivo study we hypothesized that the hepatokine fetuin-A may impair renal function in non&nbsp;alcoholic fatty liver disease (NAFLD) by altering inflammatory signalling in RSF. To study effects of the crosstalk between fetuin-A, RSF and kidney, human renal sinus fat cells (RSFC) were isolated and cocultured with human endothelial cells (EC) or podocytes (PO). RSFC caused downregulation of proinflammatory and upregulation of regenerative factors in cocultured EC and PO, indicating a protective influence of RFSC. However, fetuin-A inverted these benign effects of RSFC from an anti- to a proinflammatory status. RSF was quantified by magnetic resonance imaging and liver fat content by 1H-MR spectroscopy in 449 individuals at risk for type 2 diabetes. Impaired renal function was determined via urinary albumin/creatinine-ratio (uACR). RSF did not correlate with uACR in subjects without NAFLD (n&thinsp;=&thinsp;212, p&thinsp;=&thinsp;0.94), but correlated positively in subjects with NAFLD (n&thinsp;=&thinsp;105, p&thinsp;=&thinsp;0.0005). Estimated glomerular filtration rate (eGRF) was inversely correlated with RSF, suggesting lower eGFR for subjects with higher RSF (r&thinsp;=&thinsp;0.24, p&thinsp;&lt;&thinsp;0.0001). In conclusion, our data suggest that in the presence of NAFLD elevated fetuin-A levels may impair renal function by RSF-induced proinflammatory signalling in glomerular cells