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3. Genetic testing in the management of relatives of patients with hypertrophic cardiomyopathy

Author

Tomasov, P., Minarik, M., Zemanek, D., Cadova, P., Homolova, S., Karol Curila, Penicka, M., Benesova, L., Belsanova, B., Gregor, P., and Veselka, J.

Subjects
Adult, Male, Heterozygote, Adolescent, Genotype, Myosin Heavy Chains, Genetic Variation, Cardiomyopathy, Hypertrophic, Middle Aged, Cohort Studies, Young Adult, Troponin T, Echocardiography, Mutation, Humans, Female, Genetic Testing, Carrier Proteins, Cardiac Myosins
Abstract

Hypertrophic cardiomyopathy is the most common genetic cardiac disease with vast genetic heterogeneity. First-degree relatives of patients with HCM are at 50% risk of inheriting the disease-causing mutation. Genetic testing is helpful in identifying the relatives harbouring the mutations. When genetic testing is not available, relatives need to be examined regularly. We tested a cohort of 99 unrelated patients with HCM for mutations in MYH7, MYBPC3, TNNI3 and TNNT2 genes. In families with identified pathogenic mutation, we performed genetic and clinical examination in relatives to study the influence of genetic testing on the management of the relatives and to study the usefulness of echocardiographic criteria for distinguishing relatives with positive and negative genotype. We identified 38 genetic variants in 47 patients (47 %). Fifteen of these variants in 21 patients (21 %) were pathogenic mutations. We performed genetic testing in 52 relatives (18 of them (35 %) yielding positive results). Genetic testing of one HCM patient allowed us to omit 2.45-5.15 future cardiologic examinations of the relatives. None of the studied echocardiographic criteria were significantly different between the relatives with positive and negative genotypes, with the exception of a combined echocardiographic score (genotype positive vs. genotype negative, 3.316 vs. -0.489, P = 0.01). As a conclusion, our study of HCM patients and their relatives confirmed the role of genetic testing in the management of the relatives and found only limited benefit of the proposed echocardiographic parameters in identifying disease-causing mutation carriers.

4. Comparison of fondaparinux and enoxaparin in acute coronary syndromes

Author

Yusuf, S., Mehta, S. R., Bassand, J. P., Budaj, A., Chrolavicius, S., Fox, K. A. A., Granger, C. B., Joyner, C., Peters, R. J. G., Wallentin, L., Avezum, A., Boden, W., Cardona, E., Ceremuzynski, L., Col, J., Commerford, P. J., Diaz, R., Faxon, D., Flather, M., Fodor, G., Franzosi, M. G., Granger, C., Halon, D., Hunt, D., Karatzas, N., Keltai, M., Kenda, M., Kim, J. H., Lanas, F., Lau, C. P., Lewis, B. S., Morais, J., Moccetti, T., Pais, P., Paolasso, E., Parkhomenko, A., Petrauskiene, B., Piegas, L., Pipilis, A., Robaayah, D., Ruda, M., Rumboldt, Z., Rupprecht, H. J., Sitkei, E., Steg, P. G., Swahn, E., Theroux, P., Valentin, V., Varigos, J., Weitz, J., White, H., Widimsky, P., Xavier, D., Zhu, J. R., Ameriso, S., Bonilla, C., Braekken, S., Chan, Y. K., Chen, W., Chenniappan, M., Cohen, E., Cottin, Y., Csiba, L., Czepiel, A., Raedt, H., Finet, G., Gardinale, E., Gaxiola, E., Gorecki, A., Gregor, P., Happola, O., Heras, M., Himbert, D., Irkin, O., Isaaz, K., Iyengar, S. S., Kalvach, P., Kevers, L., Klosiewicz-Wasek, B., Laine, M., Leys, D., Lundstrom, E., Lusic, I., Lutay, Y., Maggioni, A., Massaro, A., Mayosi, B. M., Moulin, T., Narendra, J., Naslund, U., Peeters, A., Penicka, M., Perakis, A., Petersen, P., Polic, S., Radhakrishnan, S., Renkin, J., Stockins, B., Sundararajan, R., Thygesen, K., Turazza, F., Belle, E., Vik-Mo, H., Zaborski, J., Sleight, P., Anderson, J. L., Johnstone, D. E., Hirsh, J., Demets, D., Holmes, D. R., Meeks, B., Afzal, R., Pogue, J., Boccalon, S., Chrysler, K., Cracknell, B., Horsman, C., Hoskin, T., Jedrzejowski, B., Johnson, J., Kotlan, S., Lawrence, M., Smiley, M., Stevens, C., Yallup, R., Connolly, S., Demers, C., Devereaux, P. J., Healey, J., Lonn, E., Magloire, P., Mckelvie, R., Morillo, C., Natarajan, M., Rokoss, M., Teo, K., Valettas, N., Velianou, J., Albisu, J. P., Amuchastegui, M., Bello, F. A., Bluguermann, J. J., Bono, J. O., Caccavo, A., Carlevaro, O. O., Cassettari, A., Cuneo, C., Farras, H. A., Fuselli, J., Garrido, M., Guerrero, R., Hasbani, E., Hominal, M. A., Hrabar, A., Marquez, L. L., Luciardi, H. L., Riera, L. M., Marzetti, E. M., Memoli, R., Nordaby, R., Orlandini, A. D., Perez, M., Piasentin, J. A., Ramos, H. R., Risolo, A. M., Sala, J., Salomone, O., Schygiel, P. O., Ubaldini, J., Vico, M., Amerena, J., Arnolda, L., Aroney, G., Boyd, P., Cahill, P., Chew, D., Counsell, J. T., Cross, D., Edington, J., Fitzpatrick, D., Hicks, P., Horowitz, J. D., Horrigan, M. C. G., New, G., Owensby, D., Schoeman, M., Thompson, P., Tulloch, G., Waites, J., Whelan, A., Ziffer, R., Huber, K., Jordanova, N., Al Shawafi, K., Convens, C., Coussement, P., Meester, A., El Allaf, D., Janssens, L., Marcovitch, O., Muyldermans, L., Roosen, J., Soeur, F., Lierde, J., Vrolix, M., Leaes, P., Carvalho, A. C., Schramm, E. C., Mora, R. D., Amino, J. D., Dutra, O., Manenti, E. R. F., Gun, C., Saraiva, J. F. K., Hayashi, E. K., Lichter, A., Lima, A., Marin-Neto, J. A., Teixeira, S. P. M., Abrantes, J. A. M., Baracioli, L. M., Nicolau, J. C., Maia, L. N., Jaeger, C. P., Esteves, J. P., Rabelo, A., Ramos, R. F., Reis, G., Rossi, P., Dos Santos, F. R., Teixeira, M. S., Silveira, D. S., Lemos, Mabt, Timerman, A., Greque, G. V., Vaz, R., Bhargava, R., Brons, S., Colclough, M., Constance, C., Costi, P., Dacyk, A., Davies, T., Diodati, J., Dupuis, R., Elliott, H., Fell, D. A., Fung, A. Y., Gladstone, P. J. S., Gosselin, G., Grondin, F., Huynh, T., Janzen, I., Kalaparambath, T., Kornder, J., Kouz, S., Kuritzky, R., Labelle-Stimac, S., Lamothe, M., Lauzon, C., Lemay, M., Ma, P., Maccallum, G. C., Mccallum, A., Mitchell, D., Montigny, M., Nguyen, N., Pearce, M., Pistawka, K. J., Rebane, T., Roy, M., Senaratne, M., Smith, J., Stimac, J., Traboulsi, M., Vizel, S., Weeks, A., Zadra, R., Zimmerman, R. H., Alcaino, M. E., Castro, P., Chen, J., Chen, J. L., Fan, W., Ge, J., Hu, D., Huang, J., Jingxuan, G., Ke, Y., Ma, H., Wu, Y., Yingxian, S., Yu, B., Zhu, W., Bakula, M., Bergovec, M., Lukin, A., Milicevic, G., Padovan, M., Raguz, M., Aschermann, M., Belohlavek, J., Bocek, P., Branny, M., Budesinsky, T., Groch, L., Holm, F., Jansky, P., Jelinek, P., Jirka, V., Kaislerova, M., Konecny, P., Lisa, L., Maly, M., Marcinek, G., Oscipovsky, M., Stumar, J., Vacha, M., Nielsen, T., Vigholt, E., Laanmets, P., Soopold, U., Voitk, J., Naveri, H., Niemela, M., Peuhkurinen, K., Tuomainen, P., Ylitalo, A., Py, A., Amat, G., Bessede, G., Boschat, J., Carrie, D., Charbonnier, B., Coliet, J. P., Dambrine, P., Dubois-Rande, J. L., Ferrari, E., Fouche, R., Grollier, G., Jaboureck, O., Ketelers, R., Khalife, K., Leroy, F., Lognone, T., Macquin-Mavier, I., Montalescot, G., Pacouret, G., Poulard, J. E., Puel, J., Richard, M., Schiele, F., Bischoff, K. O., Buerke, M., Buerke, U., Dominick, K., Drexler, H., Feiler, A., Guelker, H., Haltern, G., Katus, H. A., Klauss, V., Klutmann, M., Koeth, O., Meinhardt, G., Muenzel, T. M., Nitschke, T., Offterdinger, M., Rieber, J., Schieffer, B., Stangl, K., Stangl, V., Vom Dahl, J., Witzenbichler, B., Zeymer, U., Alexopoulos, D., Blassopoulou, N., Christon, A., Fotiadis, I., Foussas, S., Grapsas, N., Moschos, N., Papasteriadis, E., Symeonidis, D., Tyrologos, A., Leung, W. S., Li, S. K., Arabadzisz, H., Csikazs, J., Dancs, T., Davidovits, Z., Edes, I., Farkas, E., Herczeg, B., Janos, S., Janosi, A., Kadar, A., Kis, E., Kristof, E., Lupkovics, G., Mark, L., Nagy, A., Nagy, L., Poor, F., Regos, L., Sebo, J., Tomcsanyi, J., Toth, K., Bharani, A., Chidambaram, N., Haridas, K. K., Jain, A., Jain, P. R. K., Jaison, T. M., Kerkar, P. G., Naik, S., Nambiar, A., Panwar, R. B., Parikh, K., Puri, V. K., Rajesh, T., Ramesh, M., Singh, B., Thanikachalam, S., Tongia, R. K., Varma, S., Barbiero, M., Bardelli, G., Bernardi, D., Bolognese, L., Capponi, L., Ferrari, G., Fanelli, R., Frediani, L., Galli, M., Izzo, A., Lombardi, A., Maresta, A., Martinoni, A., Melloni, C., Meneghetti, P., Mennuni, M., Moretti, L., Orlandi, M., Pancaldi, L. G., Petronzelli, S., Piovaccari, G., Salvioni, A., Severini, D., Terrosu, P., Zanini, R., Erglis, A., Kalnins, U., Verboenko, J., Zakke, I., Kugiene, R., Zaliunas, R., Bin Othman, A., Chee, K. H., Hian, S. K., Gutierrez, A. C., Diaz, A. C., Garcia-Castillo, A., Guerrero, M. C., Morales, C. L., Ramos-Lopez, G., Baldew, S. C., Basart, D. C. G., Clappers, N., Daniels, M. C. G., Weerd, G. J., Den Hartog, F. R., Hendriks, Ihgm, Herrman, J. P. R., Kofflard, M., Krasznai, K., Michels, H. R., Stoel, I., Ten Berg, J. M., Umans, Vawn, Beek, G. J., Daele, Merm, Den Berg, B. J., Hessen, M. W. J., Kalmthout, P. M., Rossum, P., Verheugt, F. W. A., Viergever, E. P., Withagen, Ajam, Achremczyk, P., Arasimowicz, P., Baranowska, T., Biegayto, J., Bronisz, M., Buszman, P., Dalkowski, M., Dluzniewski, M., Gessek, J., Goch, J. H., Janik, K., Janion, M., Kawecki, D., Kleinrok, A., Komorowski, P., Krasowski, W., Krauze-Wielicka, M., Malinowski, S., Nowak, T., Nowakowski, P., Ogorek, M., Piepiorka, M., Pluta, W., Puzio, E., Puzniak, M., Rekosz, J., Rybka, P., Sendrowski, D., Siminiak, T., Skura, M., Stopinski, M., Szetemej, R., Szolkiewicz, M., Szpajer, M., Trusz-Gluza, M., Waszyrowski, T., Wita, K., Wodniecki, J., Wojewoda, P., Zambrzycki, J., Zielinski, Z., Cardoso, P., Carrageta, D. M., Ferreira, D., Gomes, M. V., Santos, L., Arkhipov, M., Belousov, Y., Charchoglyan, R., Gordeev, I. G., Gratsiansky, N. A., Grinshtein, Y., Khrustalev, O., Kokorin, V. A., Komarov, A., Kozulin, V., Minushkina, L. O., Panchenko, E., Panov, A., Petrik, E. S., Shakhnovich, R. M., Shalaev, S. V., Sukhinina, T. S., Trifonov, I. R., Zateyshchikov, D. A., Khoo, B. C. H., Tan, H. C., Tan, R. S., Hricak, V., Motovska, Z., Poliacik, P., Kanic, V., Kovacic, D., Kranjec, I., Voga, G., Bayat, J., Essop, M. R., Maritz, F., Marx, J. D., Ntsekhe, M., Pretorius, M. P., Ranjith, N., Theron, H., Chae, I. H., Chae, S. C., Choe, K. H., Chung, N. S., Jeong, M. H., Kim, C. J., Kim, H. S., Kim, W., Rhim, C. Y., Shin, E. K., Shin, G. J., Alameda, M., Alonso-Orcajo, N., Bethencourt, A., Calvo, F., Avellaneda, J. L. C., Delgado, V., Diaz-Castro, O., Esplugas, E., Faus, R., Antonio Fernandez-Ortiz, Frutos, A., Goirena, P., Iglesias, F. C., Llorian, A. R., Macaya, C., Mancisidor, X., Melgares, R., Pascual, C., Ruiz-Nodar, J. M., Simon, J. M., Agewall, S., Ahlstrom, P., Ali, M., Andersson, L., Bandh, S., Digerfeldt, C., Ericsson, H., Forsgren, M., Jabro, J., Janzon, M., Joborn, H., Johnston, N., Karlsson, J. E., Larsson, L. E., Linderfalk, C., Lonnberg, I., Mooe, T., Oldgren, J., Pihl, E., Risenfors, M., Sjolund, E., Soderberg, I., Stjerna, A., Svennberg, L., Wodlin, P., Pagnamenta, A., Pieper, M., Rossi, M. G., Weber, K., Peng, M. C., Cheng, J. J., Chiang, F. T., Kuo, C. T., Tseng, C. D., Andreyeshcheva, I., Dzyak, G. V., Fedtchouk, L., Gontar, A., Karpenko, O., Kononenko, L., Koval, E. A., Kovalsky, I., Kraitz, I., Netiazhenko, V., Polyvoda, S., Prokopenko, Y., Prudkiy, I., Rudenko, L., Serediuk, N., Zolotaykina, V., Adgey, J., Ahsan, A., Brack, M., Bridges, A. B., Burton, J., Findlay, I., Fluck, D. S., Radford, L., Robson, R. H., Senior, R., Starkey, I. R., Alexander, J., Baber, Z., Campbell, M., Caputo, R., Chandna, H., Chandrashekhar, Y., Chu, A., Deraad, R. E., Druken, B., Goyal, A., Holly, D., Kemp, A., Kotlaba, D., Levine, M. J., Miller, G. P., Nygaard, T., Parikh, D. K., Ramos, C., Rivera, E., Rodriguez, R., Sangani, B., Walder, J. S., and Oasis

6. Heart failure with preserved ejection fraction or non-cardiac dyspnea in paroxysmal atrial fibrillation: The role of left atrial strain

Author

G Van Camp, Emanuele Barbato, Z Balogh, A Katbeh, M Albano, T De Potter, J. Bartunek, M. Vanderheyden, G Di Gioia, Martin Penicka, Peter Geelen, M Kodeboina, Katbeh, A., De Potter, T., Geelen, P., Di Gioia, G., Kodeboina, M., Balogh, Z., Albano, M., Vanderheyden, M., Bartunek, J., Barbato, E., Van Camp, G., and Penicka, M.

Subjects
Male, medicine.medical_specialty, Diastolic function, Left atrial strain, Heart failure, Speckle tracking echocardiography, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine.artery, Atrial Fibrillation, medicine, Humans, Sinus rhythm, Heart Atria, 030212 general & internal medicine, Ejection fraction, business.industry, Stroke Volume, medicine.disease, Dyspnea, Pulmonary artery, Cardiology, Female, Cardiology and Cardiovascular Medicine, Heart failure with preserved ejection fraction, business, Body mass index
Abstract

Background: Diagnosis of heart failure with preserved ejection fraction (HFpEF) in patients with dyspnea and paroxysmal atrial fibrillation (AF) is challenging. Speckle tracking-derived left atrial strain (LAS) provides an accurate estimate of left ventricular (LV) filling pressures and left atrial (LA) phasic function. However, data on clinical utility of LAS in patients with dyspnea and AF are scarce. Objective: To assess relationship between the LAS and the probability of HFpEF in patients with dyspnea and paroxysmal AF. Methods: The study included 205 consecutive patients (62 ± 10 years, 58% males) with dyspnea (NYHA≥II), paroxysmal AF and preserved LV ejection fraction (≥50%), who underwent speckle tracking echocardiography during sinus rhythm. Probability of HFpEF was estimated using H2FPEF and HFA-PEFF scores, which combine clinical characteristics, echocardiographic parameters and natriuretic peptides. Results: Patients with high probability of HFpEF were significantly older, had higher body mass index, NT-proBNP, E/e’, pulmonary artery pressure and larger LA volume index than patients in low-to-intermediate probability groups (all p < 0.05). All components of LAS and LA strain rate showed proportional impairment with increasing probability of HFpEF (all p < 0.05). Out of the speckle tracking-derived parameters, reservoir LAS showed the largest area under the curve (AUC = 0.78, p < 0.001) and the strongest independent predictive value (OR: 1.22, 95% CI 1.08–1.38) to identify patients with high probability of HFpEF. Conclusions: Reservoir LAS shows a high diagnostic performance to distinguish HFpEF from non-cardiac causes of dyspnea in symptomatic patients with paroxysmal AF.

Published
2021

7. Low Pressure Robot-assisted Radical Prostatectomy With the AirSeal System at OLV Hospital: Results From a Prospective Study

Author

Geert De Naeyer, Giacomo Novara, Rik Carette, Giorgio Gandaglia, Yujiing Mo, Martin Penicka, Geert Vandenbroucke, Sabrina La Falce, Alexandre Mottrie, Frederiek D'Hondt, Jean Beresian, Paolo Umari, La Falce, S, Novara, G, Gandaglia, G, Umari, P, De Naeyer, G, D'Hondt, F, Beresian, J, Carette, R, Penicka, M, Mo, Yj, Vandenbroucke, G, and Mottrie, A

Subjects
Male, medicine.medical_specialty, Cardiac output, Urology, Operative Time, Hemodynamics, Blood Pressure, RARP, 03 medical and health sciences, 0302 clinical medicine, Pneumoperitoneum, Robotic Surgical Procedures, 030202 anesthesiology, Monitoring, Intraoperative, Steep Trendelenburg, medicine, Humans, Prospective Studies, Low impact surgery, Low pressure pneumoperitoneum, Oncology, Aged, Prostatectomy, Ejection fraction, business.industry, Central venous pressure, Stroke volume, Middle Aged, medicine.disease, Surgery, medicine.anatomical_structure, Blood pressure, 030220 oncology & carcinogenesis, Anesthesia, Vascular resistance, business
Abstract

Limited studies examined the effects of pneumoperitoneum during robot-assisted radical prostatectomy (RARP) and with AirSeal. The aim of this study was to assess the effect on hemodynamics of lower pressure pneumoperitoneum (8 mmHg) with AirSeal, during RARP in steep Trendelenburg 45 degrees, proving how the combination of steep Trendelenburg, lower pressure pneumoperitoneum and the extreme surgeon's experience allows to safely perform RARP using a low-impact surgery. Background: Limited studies examined effects of pneumoperiotneum during robot-assisted radical prostatectomy (RARP) and with AirSeal. The aim of this study was to assess the effect on hemodynamics of a lower pressure pneumoperitoneum (8 mmHg) with AirSeal, during RARP in steep Trendelenburg 45 degrees (ST). Materials and Methods: This is an institutional review board-approved, prospective, interventional, single-center study including patients treated with RARP at OLV Hospital by one extremely experienced surgeon (July 2015-February 2016). Intraoperative monitoring included: arterial pressure, central venous pressure, cardiac output, heart rate, stroke volume, systemic vascular resistance, intrathoracic pressure, airways pressures, left ventricular end-diastolic and end-systolic areas/volumes and ejection fraction, by transesophageal echocardiography, an esophageal catheter, and FloTrac/Vigileo system. Measurements were performed after induction of anesthesia with patient in horizontal (T0), 5 minutes after 8 mmHg pneumoperitoneum (TP), 5 minutes after ST (TT1) and every 30 minutes thereafter until the end of surgery (TH). Parameters modification at the prespecified times was assessed by Wilcoxon and Friedman tests, as appropriate. All analyses were performed by SPSS v. 23.0. Results: A total of 53 consecutive patients were enrolled. The mean patients age was 62.6 +/- 6.9 years. Comorbidity was relatively limited (51% with Charlson Comorbidity Index as low as 0). Despite the ST, working always at 8 mmHg with AirSeal, only central venous pressure and mean airways pressure showed a statistically significant variation during the operative time. Although other significant hemodynamic/respiratory changes were observed adding pneumoperitoneum and then ST, all variables remained always within limits safely manageable by anesthesiologists. Conclusion: The combination of ST, lower pressure pneumoperitoneum and extreme surgeon's experience enables to safely perform RARP. (C) 2017 Elsevier Inc. All rights reserved.

Published
2017

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