Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs

While the genetics of autism spectrum disorders (ASD) has been intensively studied, resulting in the identification of over 100 putative risk genes, the epigenetics of ASD has received less attention, and results have been inconsistent across studies. We aimed to investigate the contribution of DNA methylation (DNAm) to the risk of ASD and identify candidate biomarkers arising from the interaction of epigenetic mechanisms with genotype, gene expression, and cellular proportions. We performed DNAm differential analysis using whole blood samples from 75 discordant sibling pairs of the Italian Autism Network collection and estimated their cellular composition. We studied the correlation between DNAm and gene expression accounting for the potential effects of different genotypes on DNAm. We showed that the proportion of NK cells was significantly reduced in ASD siblings suggesting an imbalance in their immune system. We identified differentially methylated regions (DMRs) involved in neurogenesis and synaptic organization. Among candidate loci for ASD, we detected a DMR mapping to CLEC11A (neighboring SHANK1) where DNAm and gene expression were significantly and negatively correlated, independently from genotype effects. As reported in previous studies, we confirmed the involvement of immune functions in the pathophysiology of ASD. Notwithstanding the complexity of the disorder, suitable biomarkers such as CLEC11A and its neighbor SHANK1 can be discovered using integrative analyses even with peripheral tissues

Textbook outcome in urgent early cholecystectomy for acute calculous cholecystitis: results post hoc of the S.P.Ri.M.A.C.C study

Introduction: A textbook outcome patient is one in which the operative course passes uneventful, without complications, readmission or mortality. There is a lack of publications in terms of TO on acute cholecystitis. Objetive: The objective of this study is to analyze the achievement of TO in patients with urgent early cholecystectomy (UEC) for Acute Cholecystitis. and to identify which factors are related to achieving TO. Materials and methods: This is a post hoc study of the SPRiMACC study. It ́s a prospective multicenter observational study run by WSES. The criteria to define TO in urgent early cholecystectomy (TOUEC) were no 30-day mortality, no 30-day postoperative complications, no readmission within 30 days, and hospital stay ≤ 7 days (75th percentile), and full laparoscopic surgery. Patients who met all these conditions were taken as presenting a TOUEC. Outcomes: 1246 urgent early cholecystectomies for ACC were included. In all, 789 patients (63.3%) achieved all TOUEC parameters, while 457 (36.6%) failed to achieve one or more parameters and were considered non-TOUEC. The patients who achieved TOUEC were younger had significantly lower scores on all the risk scales analyzed. In the serological tests, TOUEC patients had lower values for in a lot of variables than non-TOUEC patients. The TOUEC group had lower rates of complicated cholecystitis. Considering operative time, a shorter duration was also associated with a higher probability of reaching TOUEC. Conclusion: Knowledge of the factors that influence the TOUEC can allow us to improve our results in terms of textbook outcome

Carcinoma of the vulva with sarcomatoid features: a case report with immunohistochemical study

A tumor of the vulva with sarcomatoid features was studied by immunocytochemistry to characterize the phenotype of the spindle-shaped and giant cells. Sarcomatoid-looking cells were positive for intermediate filament keratin polypeptides of stratified epithelium. These results favor histogenesis of the sarcomatoid-looking cells from a metaplastic alteration of the malignant squamous component

Acute hepatitis B in a patient with OLT during treatment with peg-interferon and ribavirin for hepatitis C recurrence

The course and outcome of acute viral hepatitis in liver transplanted patients with hepatitis C recurrence are unknown. Here we describe a patient who presented with acute hepatitis B infection while on treatment with peg-interferon and ribavirin for hepatitis C recurrence after liver transplantation. A nucleoside analogue was added (entecavir) and the patient cleared hepatitis C virus (HCV) infection and seroconverted to anti-HBs. In this case, the acute hepatitis B virus (HBV) infection might have contributed to the clearance of HCV, the concomitant immunosuppression might have lead to the slow clearance of HBV infection, and the combined antiviral therapy has helped in the resolution of both infections. Hepatitis B vaccination should be recommended in susceptible patients waiting for liver transplantation. © 2012 Edizioni Scientifiche per l'Informazione su Farmaci e Terapia

First attempt to quantify microplastics in Mediterranean Sabellaria spinulosa (Annelida, Polychaeta) bioconstructions

This work focuses on the arenaceous reefs by the polychaete Sabellaria spinulosa and addresses microplastics pollution. The main aim is to assess microplastics amount in a bioconstruction located in the Adriatic coast of Italy (Mediterranean Sea) through a comparative approach: sea-floor sediment and bioconstruction samples were analysed to quantify microplastics absolute abundance in both substrates. A total of 431 MPs were found in the investigated substrates: respectively 85 % fibers and 15 % fragments. Multivariate analysis indicates that MPs within bioconstruction occur in higher abundances and with different morphologies than in sediment samples. The analysis of bioconstruction polished sections allowed for observation of MPs agglutinated in their original position: higher concentration is reported in inter-tube areas. Results suggest that physical characteristics of MPs could play a key-role in bioconstruction inclusion processes and raise questions on effective role of sabellariid bioconstructions as a trap for this pollutant in the littoral environment

Noninfectious Granulomatous Lung Disease: Radiological Findings and Differential Diagnosis

Granulomatous lung diseases (GLDs) are a heterogeneous group of pathological entities that can have different clinical presentations and outcomes. Granulomas are histologically defined as focal aggregations of activated macrophages, Langerhans cells, and lymphocytes, and may form in the lungs when the immune system cannot eliminate a foreign antigen and attempts to barricade it. The diagnosis includes clinical evaluation, laboratory testing, and radiological imaging, which especially consists of high-resolution computed tomography. bronchoalveolar lavage, transbronchial needle aspiration or cryobiopsy, positron emission tomography, while genetic evaluation can improve the diagnostic accuracy. Differential diagnosis is challenging due to the numerous different imaging appearances with which GLDs may manifest. Indeed, GLDs include both infectious and noninfectious, and necrotizing and non-necrotizing granulomatous diseases and the imaging appearance of some GLDs may mimic malignancy, leading to confirmatory biopsy. The purposes of our review are to report the different noninfectious granulomatous entities and to show their various imaging features to help radiologists recognize them properly and make an accurate differential diagnosis