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Hereditary gastrointestinal polyposis: Diagnosis, genetic test and risk assessment

Open Journal of Genetics 2013年第2期3卷 50-58页

作者： Marina De Rosa Francesca Duraturo raffaella liccardo Paola Izzo Dipartimento di Medicina Molecolare e Biotecnologie Mediche and CEINGE Biotecnologie Avanzate Università di Napoli Federico II Naples Italy

Colorectal cancer (CRC) is the second cause of cancer deaths, with over 1 million new cases estimated every year. Familial adenomatous polyposis, MUTYH-associated polyposis and hamartomatous polyposis are inherited syndromes that account for 2%-5% of all colon cancer. The mutated genes responsible for the vast majority of these disorders, are now known (MLH1, MSH2, MSH6, PMS2, APC, MYH, LKB1, SMAD4, BMPR1A, and PTEN) and specific mutations have been identified. Molecular caracterization of inherited CRCs allows pre-symptomatic diagnosis identifying at-risk individuals and improving cancer surveillance. Adenomatous polyposis includes familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and MUTYH-associated polyposis (MAP). Hamartomatous polyposis comprises Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS) and “PTEN hamartoma tumour syndrome” (PHTS). MAP is an autosomal recessive condition, while all other disorders are inherited in an autosomal dominant manner. Differential dyagnosis could be very difficult between syndromes because of their phenotypic variability. Attenuated FAP, MAP and Lynch syndrome could be all associated with fewer numbers of adenomas (3-10 polyps), nevertheless, each syndrome has distinct cancer risks, characteristic clinical features, and separate genetic etiologies. Thus, differential diagnosis is essential for correct management of the specific disease. In our laboratory we set up a methodology for genetic tests of the colorectal polyposis syndrome. In these reviews we summarize the literature data and our experience about diagnosis, genetic tests and cancer risk assesment associated with colorectal polyposis. According to literature data, in our experience, there is a portion of analyzing patients that remain without identified mutation, after molecular screening of the specific gene involved in the pathogenesis of the disease. Since the sensibility of used techniques, such as DHPLC, MLPA and sequencing, is now very h

关键词： Familial Adenomatous Polyposis (FAP) MUTYH-Associated Polyposis (MAP) Peutz-Jeghers Syndrome (PJS) PTEN Hamartoma Tumour Syndrome (PHTS)

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Cardiac damage in athlete's heart: When the “supernormal” heart fails!

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World Journal of Cardiology 2017年第6期9卷 470-480页

作者： Andreina Carbone Antonello D’Andrea Lucia Riegler raffaella Scarafile Enrica Pezzullo Francesca Martone raffaella America Biagio liccardo Maurizio Galderisi Eduardo Bossone Raffaele Calabrò Second University of Naples Monaldi HospitalAORN Ospedali dei Colli Department of Advanced Biomedical Sciences FedericoⅡUniversity Hospital Department of Cardiology and Cardiac Surgery University Hospital San Giovanni di Dio

Intense exercise may cause heart remodeling to compensate increases in blood pressure or volume by increasing muscle mass. Cardiac changes do not involve only the left ventricle, but all heart chambers. Physiological cardiac modeling in athletes is associated with normal or enhanced cardiac function, but recent studies have documented decrements in left ventricular function during intense exercise and the release of cardiac markers of necrosis in athlete's blood of uncertain significance. Furthermore, cardiac remodeling may predispose athletes to heart disease and result in electrical remodeling, responsible for arrhythmias. Athlete's heart is a physiological condition and does not require a specific treatment. In some conditions, it is important to differentiate the physiological adaptations from pathological conditions, such as hypertrophic cardiomyopathy, arrhythmogenic dysplasia of the right ventricle, and non-compaction myocardium, for the greater risk of sudden cardiac death of these conditions. Moreover, some drugs and performance-enhancing drugs can cause structural alterations and arrhythmias, therefore, their use should be excluded.

关键词：运动员心心脏的损坏纤维变性强烈锻练正确的室的 Arrhythmogenic 发育异常 Atrial 纤维性颤动做 Anabolic-androgenic 类固醇 Hypertrophic 心肌症

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