Timing chirurgico nell’adenoma epatico sanguinante: case report

La diagnosi di adenoma epatico, la cui eziopatogenesi è spesso un rapporto con l’assunzione prolungata di estroprogestinici (il 90% degli adenomi si osserva in donne che hanno preso la ‘pillola’ per più di 5 anni), impone sempre una indicazione chirurgica resettiva. La ragione è data dalle caratteristiche peculiari della neoplasia, che sono la degenerazione maligna (4%) e l’elevato rischio di sanguinamento (30- 50%), intratumorale e/o intraaddominale, che aumenta in gravidanza e in puerperio. La regressione dopo sospensione della terapia ormonale, infatti, è poco frequente e non elimina il rischio di degenerazione e/o emorragia. La resezione epatica dovrebbe essere condotta in combinazione con appropriate procedure di embolizzazione endovascolare selettiva, considerato che la chirurgia in emergenza potrebbe imporre un sacrificio epatico maggiore, esponendo il paziente a morbilità e mortalità più elevate. I tempi di attesa dall’embolizzazione all’intervento elettivo non sono standardizzati e sono pertanto indicati dall’esperienza personale e soprattutto da un attento e seriato follow-up del paziente. Gli Autori riportano la propria esperienza nella strategia terapeutica e nel timing chirurgico di un caso di adenoma epatico sanguinante

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern

Discovering HIV related information by means of association rules and machine learning

Acquired immunodeficiency syndrome (AIDS) is still one of the main health problems worldwide. It is therefore essential to keep making progress in improving the prognosis and quality of life of affected patients. One way to advance along this pathway is to uncover connections between other disorders associated with HIV/AIDS-so that they can be anticipated and possibly mitigated. We propose to achieve this by using Association Rules (ARs). They allow us to represent the dependencies between a number of diseases and other specific diseases. However, classical techniques systematically generate every AR meeting some minimal conditions on data frequency, hence generating a vast amount of uninteresting ARs, which need to be filtered out. The lack of manually annotated ARs has favored unsupervised filtering, even though they produce limited results. In this paper, we propose a semi-supervised system, able to identify relevant ARs among HIV-related diseases with a minimal amount of annotated training data. Our system has been able to extract a good number of relationships between HIV-related diseases that have been previously detected in the literature but are scattered and are often little known. Furthermore, a number of plausible new relationships have shown up which deserve further investigation by qualified medical experts