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Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient:A case report

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World Journal of Clinical Cases 2021年第25期9卷 7472-7477页

作者： Vincenzo Ezio Santobuono Andrea Igoren Guaricci Eugenio Carulli Nicola Bozza Martino Pepe Alfredo Ranauro Carlotta Ranieri Maria Cristina Carella francesco Loizzi Nicoletta resta Stefano Favale Cinzia Forleo Department of Emergency and Organ Transplantation Cardiology Unit of Policlinic University of BariBari 70124BAItaly Division of Medical Genetics Department of Biomedical Sciences and Human OncologyPoliclinic University of BariBari 70124BAItaly

BACKGROUND Laminopathies are rare diseases,whose cardiac manifestations are heterogeneous and,especially in their initial stage,similar to those of more common conditions,such as ischemic heart *** diagnosis is essential,as these conditions can first manifest themselves with sudden cardiac *** complications usually appear before structural complications;therefore,it is important to take into consideration these rare genetic disorders for the differential diagnosis of brady and tachyarrhythmias,even when left ventricle systolic function is still *** SUMMARY A 60-year-old man,without history of previous disorders,presented in September 2019 to the emergency department because of the onset of syncope associated with *** patient was diagnosed with a high-grade atrioventricular block.A dual chamber pacemaker was implanted,but after the onset of a sustained ventricular tachycardia during physical exertion,a drug eluting stent was implanted on an intermediate stenosis on the left anterior descending artery,which had previously been considered non-haemodynamically *** the follow-up,the treating cardiologist,suspicious of the overall clinical picture,recommended a genetic test for the diagnosis of cardiomyopathies,which tested positive for a pathogenetic mutation of the lamin A/C *** awaiting the result of the genetic test and,later,the pacemaker to be upgraded to a biventricular defibrillator,a remote monitoring device was given to the patient in 2019-related *** case aims to raise awareness of the cardiological manifestations of laminopathies,which can be dangerously misdiagnosed as other, more common conditions.

关键词： Lamin A/C-mutation Cardiolaminopathy Ventricular tachyarrhythmias Remote-monitoring COVID-19 Case report

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Boceprevir or telaprevir in hepatitis C virus chronic infection:The Italian real life experience

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World Journal of Hepatology 2016年第22期8卷 949-956页

作者： Antonio Ascione Luigi Elio Adinolfi Pietro Amoroso Angelo Andriulli Orlando Armignacco Tiziana Ascione Sergio Babudieri Giorgio Barbarini Michele Brogna francesco Cesario Vincenzo Citro Ernesto Claar Raffaele Cozzolongo Giuseppe D’Adamo Emilio D’Amico Pellegrino Dattolo Massimo De Luca Vincenzo De Maria Massimo De Siena Giuseppe De Vita Antonio Di Giacomo Rosanna De Marco Giorgio De Stefano Giulio De Stefano Sebastiano Di Salvo Raffaele Di Sarno Nunzia Farella Laura Felicioni Basilio Fimiani Luca Fontanella Giuseppe Foti Caterina Furlan Francesca Giancotti Giancarlo Giolitto Tiziana Gravina Barbara Guerrera Roberto Gulminetti Angelo Iacobellis Michele Imparato Angelo Iodice Vincenzo Iovinella Antonio Izzi Alfonso Liberti Pietro Leo Gennaro Lettieri Ileana Luppino Aldo Marrone Ettore Mazzoni Vincenzo Messina Roberto Monarca Vincenzo Narciso Lorenzo Nosotti Adriano Maria Pellicelli Alessandro Perrella Guido Piai Antonio Picardi Paola Pierri Grazia Pietromatera francesco resta Luca Rinaldi Mario Romano Angelo Rossini Maurizio Russello Grazia Russo Rodolfo Sacco Vincenzo Sangiovanni Antonio Schiano Antonio Sciambra Gaetano Scifo Filomena Simeone Annarita Sullo Pierluigi Tarquini Paolo Tundo Alfredo Vallone Depart-ment of Medicine Center for Liver Diseases "Buon Consiglio" -Fatebenefratelli Hospital Internal Medicine Unit Second University of Naples VI Division of Infectious Diseases Cotugno Hospital AORN "Ospedali dei Colli" Division of Gastro- enterology Casa Sollievo Sofferenza Hospital IRCCS Division of Infectious Diseases Belcolle Hospital IX Division of Infectious Diseases Cotugno Hospital AORN "Ospedali dei Colli" Clinical of Infectious Disease University of Sassari Infectious Disease IRCCS San Matteo Division of Infectious Diseases and Liver Unit "G. Iazzolino" Hospital Division of Infectious Diseases "Annunziata" Hospital Depart-ment of Internal Medicine Umberto I Hospital Internal Medicine Ospedale Evangelico Villa Betania Division of Gastroenterology IRCCS "S.de Bellis" Hospital Internal Medicine Unit Pescara-Penne Hospital Gastroenterology Unit Marcianise Hospital Liver Unit AORN Cardarelli Liver Unit Policlinico "Mater Domini" Service of Medical Day Hospital "Rummo" Hospital Internal Medicine Regina Margherita Hospital Division of Gastroenterology "Annunziata" Hospital Infectious Disease Matera Hospital First Division of Infectious Diseases Cotugno Hospital AORN "Ospedali dei Colli" Division of Infectious Diseases AO Melacrino- Bianchi-Morelli Infectious and Tropical Disease Policlinico Umberto I Division of Infectious Disease Maria SS Addolorata Hospital Division of Infectious Diseases S. Anna and S. Sebastiano Hospital Outpatients Service for Liver Diseases "Loreto Crispi" Hospital V Division of Infectious Diseases Cotugno Hospital AORN "Ospedali dei Colli" Department of Medical Surgical Neurological Geriatric and Metabolic Sciences Second Univer-sity of Naples Liver Unit Policlinico Casilino Medicine and Health Unit for Prisoners Belcolle Hospital Internal Medicine Unit "Ascalesi" Hospital Gastrointestinal and Liver Department National Institute for Health Migration and Poverty Liver Unit Azienda Ospedaliera San Camillo Forlanini VII Division of Infectious Diseases

AIM: To check the safety and efficacy of boceprevir/telaprevir with peginterferon/ribavirin for hepatitis C virus(HCV) genotype 1 in the real-world settings. METHODS: This study was a non-randomized, observational, prospective, multicenter. This study involved 47 centers in Italy. A database was prepared for the homogenous collection of the data, was used by all of the centers for data collection, and was updated continuously. All of the patients enrolled in this study were older than 18 years of age and were diagnosed with chronic infection due to HCV genotype 1. The HCV RNA testing was performed using COBAS-Taq Man2.0(Roche, LLQ 25 IU/m L). RESULTS: All consecutively treated patients were included. Forty-seven centers enrolled 834 patients as follows: Male 64%; median age 57(range 18-78), of whom 18.3% were over 65; mean body mass index 25.6(range 16-39); genotype 1b(79.4%); diagnosis of cirrhosis(38.2%); and fibrosis F3/4(71.2%). The following drugs were used: Telaprevir(66.2%) and PEG-IFN-alpha2a(67.6%). Patients were na?ve(24.4%), relapsers(30.5%), partial responders(14.8%) and null responders(30.3%). Overall, adverse events(AEs) occurred in 617 patients(73.9%) during the treatment. Anemia was the most frequent AE(52.9% of cases), especially in cirrhotic. The therapy was stopped for 14.6% of the patients because of adverse events or virological failure(15%). Sustained virological response was achieved in 62.7% of the cases, but was 43.8% in cirrhotic patients over 65 years of age. CONCLUSION: In everyday practice, triple therapy is safe but has moderate efficacy, especially for patients over 65 years of age, with advanced fibrosis, nonresponders to peginterferon + ribavirin.

关键词： Boceprevir Telaprevir Chronic hepatitis Antiviral therapy Peg-interferon Ribavirin

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