Paraneoplastic epidermolysis bullosa acquisita associated with thyroid carcinoma

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Rivaroxaban-induced hepatotoxicity: review of the literature and report of new cases

Aim/Objective/Background Direct-acting oral anticoagulant drugs are marketed worldwide for the primary and secondary prevention and treatment of thromboembolic disorders. Rivaroxaban, an oral, direct factor Xa inhibitor, is one of the most used. Rivaroxaban-induced hepatotoxicity is unusual, although a number of adverse reports have recently been reported. Here, we report two new cases of rivaroxaban-induced hepatitis. Methods A systematic search of case reports on the MEDLINE database encompassing the years 2008–2016 was carried out.Additional references were obtained following a manual search of the retrieved papers. We report two new cases of adverse events occurred in patients treated with rivaroxaban (20 mg/die) to prevent systemic embolism, who presented with hepatocellular liver injury with onset at 8 weeks after initiation of the drug intake. Results Twenty-six cases were retrieved from MEDLINE (57.7% female, 42.3% male). Using the Roussel Uclaf Causality Assessment Method (RUCAM) scale, liver injury was classified as hepatocellular (42.3%), cholestatic (26.9%), or mixed (15.4%). Older age (≥65 years) was present as a risk factor in 57.7%. The time lapse between initiation of treatment and onset of hepatic injury ranged from 2 to 180 days (median: 15 days). Our two new patients were diagnosed with drug-induced liver injury (hepatocellular pattern) using the ‘consensus criteria’, for drug-induced liver injury. Their RUCAM scores were calculated and assessed as highly probable and probable, respectively. A clinical recovery after rivaroxaban withdrawal was observed. Conclusion Direct-acting oral anticoagulants have been commonly prescribed, even if safety issues regarding the use of these drugs are still an ongoing concern, especially in patients experiencing chronic liver disease. Dedicated postauthorization safety studies should be undertaken to better define rivaroxaban-induced drug-induced liver injury

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis

Biosynthesis of Salvia specialized metabolites and biotechnological approaches to increase their production

Aromatic Salvia species are particularly valuable for providing several bioactive compounds used as food additives, pigments, cosmetics, perfumes and fine chemicals. Within the Lamiaceae family, the Salvia genus, with more than 900 species, biosynthesizes a plethora of beneficial metabolites including terpenes, steroids and polyphenols. The whole plant can be considered a factory of bioactive compounds, but plant cell and tissue cultures are also an attractive sustainable alternative to cultivation. Salvia cell cultures can readily be initiated from different explants, including leaves, roots, stems, petioles, anthers and seedlings; however high metabolites accumulation in plant tissue and cell culture is a prerequisite for massive production of these bioactive compounds. In this chapter, the occurrence and tissue distribution of specialized metabolites in several Salvia species, especially flavonoids and diterpenoids, will be reviewed along with recent advances in the understanding of biosynthetic pathways as well as regulatory mechanisms leading to their biosynthesis. We will focus on the recent biotechnological approaches aimed at enhancing the final biomass and metabolite accumulation in Salvia cell and tissue cultures. Advances in metabolic engineering strategies will be also summarized, reporting relevant and successful results and potential pitfalls, in order to provide valuable perspectives for design and developing cell and tissue cultures as a reliable and standardized biomass platform for the extraction of Salvia bioactive metabolites

Using quantitative MRI to study brain responses to immune challenge with interferon-α

Inflammatory processes in the Central Nervous System (CNS) have been proposed to mediate the association between peripheral inflammation and the development of psychiatric disorders, but we currently lack sensitive measures of CNS inflammation for human studies in vivo. Here we used quantitative MRI (qMRI) to explore the in vivo central response to a peripheral immune challenge in healthy humans, and we assessed whether changes in quantitative relaxometry MRI parameters were associated with changes in peripheral inflammation.Quantitative relaxation times (T1 & T2) and Proton Density (PD) were measured in n ​= ​6 healthy males (mean age ​= ​30.5 ​± ​6.8 years) in two MRI assessments collected before and 24 ​hours after a subcutaneous injection of the proinflammatory cytokine and immune activator, interferon-alpha (IFN-α). Serum levels of immune markers and markers of blood-brain barrier integrity (S100B) were also measured before and after the injection.Region of interest and histogram-based analyses (optimized for the small sample size) showed a statistically significant increase of both T1 (t(5) ​= ​3.78, p ​= 0.013) and PD (t(5) ​= ​2.91, p ​= ​0.033) parameters in the bilateral hippocampus after IFN-α administration. T1 peak values in bilateral hippocampus were positively correlated with serum Tumour Necrosis Factor-alpha levels at 24 ​h after the injection, when this cytokine peaked (Spearman's rho ​= ​0.67, p ​= ​0.018) and negatively correlated with S100B levels (Spearman's rho ​= ​−0.826, p ​= ​0.001).Our data suggest that peripheral administration of IFN-α produces acute changes in brain qMRI which might indicate a brain immune response. This is supported by the association of such changes with low-grade peripheral inflammation

Effect of Immersive Virtual Reality by a Computer Assisted Rehabilitation Environment (CAREN) in Juvenile Huntington’s Disease: A Case Report

Various studies have proven the utility of immersive virtual reality (VR) as a complementary approach to conventional neurorehabilitation therapy for improving neuromuscular and cognitive outcomes in several neurological diseases. We hereby report findings from a single-case experience of a 21-year-old woman affected by juvenile Huntington’s disease (HD) who underwent a targeted rehabilitative approach using an advanced Computer Assisted Rehabilitation Environment (CAREN) with a three sessions/week schedule for six months. At the end of the program, a manifested improvement was noticed in the Falls Efficacy Scale International score, in the Tinetti Scale, in the Berg Balance score and in the lower limb strength (MRC scale). Minor although tangible improvements were also noticed in some physical performance tests (10 m walking test, time up and go test). Findings reported, although preliminary, extend for the first time the usefulness of neurorehabilitation using innovative VR technologies also to juvenile HD, a condition for which common rehabilitation strategies bring only marginal physical benefits in the majority of cases. Future, controlled studies are awaited for generalizing these observations to larger populations and for clarifying whether such benefits may persist also in the long-term