Hereditary Breast Cancer in Romania—Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country

Autor: Andreea Cătană, Adrian P. Trifa, Patriciu A. Achimas-Cadariu, Gabriela Bolba-Morar, Carmen Lisencu, Eniko Kutasi, Vlad F. Chelaru, Maximilian Muntean, Daniela L. Martin, Nicoleta Z. Antone, Bogdan Fetica, Florina Pop, Mariela S. Militaru

Publikováno v: Biomedicines, Vol 11, Iss 5, p 1386 (2023)

In Romania, breast cancer (BC) is the most common malignancy in women. However, there is limited data on the prevalence of predisposing germline mutations in the population in the era of precision medicine, where molecular testing has become an indis

Externí odkaz: https://doaj.org/article/88b7a7d1c10c4666a2421d597d6dfdf4

Finding the gaps in managing Fabry disease in women: the Romanian experience

Autor: A Mursa, S Militaru, G Neculae, R Adam, V Radoi, E Rusu, B A Popescu, R Jurcut

Publikováno v: European Heart Journal. 43

Introduction Fabry disease (FD) is an X-linked rare lysosomal storage disease caused by mutations in the GLA gene which lead to decrease in α Gal A enzyme activity and tissue accumulation of lysosomal globotriaosylceramide (Gb3) and globotriaosylsph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf587aff75be7f6655f23befb6b4c24a
https://doi.org/10.1093/eurheartj/ehac544.1779

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P650Influence of fetunin-a level on progression of calcific aortic valve stenosis The COFRASA - GENERAC StudyP651Common carotid artery remodeling 1 year after aortic valve surgeryP652Low gradient aortic stenosis with preserved ejection fraction: reclassification of severity by 3D transesophageal echocardiography. P653Results of balloon aortic valvuloplasty in patients with impaired left ventricle ejection fraction.P654Burden of associated aortic regurgitation in patients with mitral regurgitationP655Differences in right ventricular mechanics in acute and chronic ischemic mitral regurgitation after inferoposterior myocardial infarctionP656Tricuspid regurgitation in patients operated for severe symptomatic native aortic stenosis: pre-operative determinantsP657Echocardiographic diagnosis in patients with prosthetic or annuloplasty ring dysfunction: correlation with surgical findingsP659Agreement analisys of different three-dimensional transoesophageal echocardiographic modalities and cardiac CT scan in aortic annulus sizing for transapical heart valve implantationP660Elevated gradients after TAVR are associated with increased rehospitalization, but have no impact on mortality and major adverse cardiac eventsP661Echocardiographic characteristics of post-TAVI thrombosis and endocarditis: single-centre experienceP662Impact of mixed aortic valve disease in long-term mortality after transcatheter aortic valve implantationP663Quantification of mitral regurgitation during interventional valve repair: correlation between haemodynamic parameters and 3D color Doppler echocardiographyP664Mitraclip in functional mitral regurgitation: are immediate results the same in ischemic and non ischemic etiology?P665Left ventricular contractile reserve by stress echocardiography as a predictor of response to cardiac resynchronization therapy in heart failure: a meta-analysisP666Regardless of the definition used, left ventricular reverse remodeling is not different in fibrosis positive and negative dilated cardiomyopathy patientsP667Heterogeneity of LV contractile function by multidimensional strain in patients with EF<35%: Insights for the hemodynamic burdenP668Ability of 99mTc-DPD scintigraphy to predict conduction disorders requiring permanent pacemaker in patients with transthyretin-related cardiac amyloidosisP669Provocation of left ventricular outflow tract obstruction using nitrate inhalation in hypertrophic cardiomyopathy: relation to electromechanical delayP670Could echocardiographic features differentiate Fabry cardiomyopathy from sarcomeric forms of hypertrophic cardiomyopathy?P671Pregnancy is well tolerated in women with arrhythmogenic right ventricular cardiomyopathy P672Glycogen storage cardiomyopathy (PRKAG2): do particular echocardiography findings in established and advanced techniques are helpful in suggesting the diagnosis?P673Improvement of arterial stiffness and myocardial deformation in patients with poorly controlled diabetes mellitus type 2 after optimization of antidiabetic medication

Autor: I. Ikonomidis, W. Costa Santos, AI. Castrini, S. Militaru, W. Hamed, S. Brun, LE. Sade, S. Wisniowska-Smialek, Q. Ciampi, MD. Mesa Rubio, B. Goebel, K. Stathogiannis, M. Spartera, M. Ali, V. Polizzi, B. De Chiara, C. Dumont, E. Tamulenaite, JM. Monteagudo Ruiz, DS. Sorysz, A. Gonzalez Gomez, J. Petrini, N. Kubota, DMZ David Messika-Zeitoun, M. Ring, K. Caidahl, MJ. Eriksson, JM. Monteagudo, C. Fernandez-Golfin, C. Izurieta, R. Hinojar, A. Garcia, E. Casas, A. Marco, JJ. Jimenez-Nacher, JL. Zamorano, M. Daniec, M. Stapor, M. Tomala, B. Nawrotek, L. Rzeszutko, P. Kleczynski, A. Dziewierz, M. Bagienski, K. Zmudka, D. Dudek, D. Mesa, T. Gonzalez-Alujas, M. Sitges, F. Carrasco-Chinchilla, CH. Li, A. Grande-Trillo, A. Martinez, J. Matabuena, D. Alonso-Rodriguez, I. Aquila, A. Gonzalez-Gomez, Z. Valuckiene, R. Jurkevicius, E. Galli, E. Oger, A. Hubert, C. Leclercq, E. Donal, S. Quattrocchi, L. Botta, F. Casadei, A. Peritore, O. Belli, F. Musca, C. Russo, C. Giannattasio, A. Moreo, ML. Lo Presti, PG. Pino, A. Madeo, D. Bellavia, V. Buffa, R. Fiorilli, G. Luzi, F. Musumeci, VT. Nkomo, PA. Pellikka, HM. Connolly, CG. Scott, GS. Sandhu, DR. Holmes, CS. Rihal, KL. Greason, SV. Pislaru, M. Barletta, F. Ancona, I. Rosa, S. Stella, C. Marini, M. Montorfano, A. Latib, O. Alfieri, A. Margonato, A. Colombo, E. Agricola, K. Toutouzas, M. Drakopoulou, A. Michelongona, G. Latsios, A. Synetos, O. Kaitozis, F. Mitropoulou, S. Brili, D. Tousoulis, I. Rohm, A. Hamadanchi, S. Otto, C. Jung, HR. Figulla, PC. Schulze, TC. Poerner, G. Gutierrez Ballesteros, C. Aristizabal Duque, M. Ruiz Ortiz, M. Delgado Ortega, J. Fernandez Cabeza, M. Pan Alvarez-Osorio, A. Lopez Granados, M. Romero Moreno, J. Suarez De Lezo Cruz-Conde, C. Carpegiani, C. Michelassi, B. Villari, E. Picano, P. Rubis, B. Biernacka-Fijalkowska, E. Dziewiecka, L. Khachatryan, P. Faltyn, A. Lesniak-Sobelga, M. Hlawaty, M. Kostkiewicz, P. Podolec, U. Bal, D. Oguz, S. Eroglu, B. Pirat, H. Muderrisoglu, S. Pradel, P. Mondoly, G. Victor, P. Pascal, M. Galinier, D. Carrie, P. Maury, I. Berry, O. Lairez, HMB Badran, RIY Yaseen, MAGDY Yacoub, RD. Adam, A. Mursa, M. Chivulescu, M. Rosca, L. Mandes, E. Rusu, L. Dima, A. Fruntelata, BA. Popescu, CD. Ginghina, RO. Jurcut, IS. Leren, ME. Estensen, LG. Klaeboe, T. Edvardsen, KH. Haugaa, JLB Pena, IH. Sampaio, MHA Siqueira, MC. Alves, EB. Sternick, G. Pavlidis, V. Lambadiari, F. Kousathana, H. Triantafyllidi, M. Varoudi, D. Vlastos, S. Vlachos, G. Dimitriadis, J. Lekakis

Publikováno v: European Heart Journal – Cardiovascular Imaging. 17:ii130-ii136

Background. In recent years, pathophysiology of aortic stenosis (AS) has been considered as a possibly active inflammatory process, but its determinants remain unclear. Calcium tissue deposition observed in dilaysis patients have been linked to low l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fd8e70347cbff5fba67558879d4ba1c7
https://doi.org/10.1093/ehjci/jew250.001