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567 results on '"Sławek, Jarosław"'

8. Diagnosis, Treatment and Long-Term Management of Vitamin B12 Deficiency in Adults: A Delphi Expert Consensus

Author

Obeid, Rima, primary, Andrès, Emmanuel, additional, Češka, Richard, additional, Hooshmand, Babak, additional, Guéant-Rodriguez, Rosa-Maria, additional, Prada, Gabriel Ioan, additional, Sławek, Jarosław, additional, Traykov, Latchezar, additional, Ta, Binh Van, additional, Várkonyi, Tamás, additional, and Reiners, Karlheinz, additional

Published
2024
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11. Sex contribution to average age at onset of Huntington’s disease depends on the number of (CAG)n repeats.

Author

Stanisławska-Sachadyn, Anna, Krzemiński, Michał, Zielonka, Daniel, Krygier, Magdalena, Ziętkiewicz, Ewa, Sławek, Jarosław, and Limon, Janusz

Abstract

Huntington’s disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner. The present study aimed to assess whether patients’ sex, in the context of mutated and normal allele length, contributes to age on onset (AO) of HD. The study population comprised a large cohort of 3723 HD patients from the European Huntington’s Disease Network’s REGISTRY database collected at 160 sites across 17 European countries and in one location outside Europe. The data were analyzed using regression models and factorial analysis of variance (ANOVA) considering both mutated allele length and sex as predictors of patients’ AO. AO, as described by the rater’s estimate, was found to be later in affected women than in men across the whole population. This difference was most pronounced in a subgroup of 1273 patients with relatively short variants of the mutated allele (40–45 CAG repeats) and normal alleles in a higher half of length distribution—namely, more than 17 CAG repeats; however, it was also observed in each group. Our results presented in this observational study point to sex-related differences in AO, most pronounced in the presence of the short mutated and long normal allele, which may add to understanding the dynamics of AO in Huntington’s Disease. Trial registration: ClinicalTrials.gov identifier NCT01590589. [ABSTRACT FROM AUTHOR]

Published
2024
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12. An expert opinion of the Heart Rhythm Section of the Polish Cardiac Society and professionals from the Polish Neurological Society on evidence-driven implementation of implantable loop recorders in Poland

Author

Karliński, Michał A., primary, Grabowski, Marcin, additional, Kempa, Maciej, additional, Farkowski, Michał M, additional, Sławek, Jarosław, additional, Rejdak, Konrad, additional, Mitkowski, Przemysław, additional, Hryniewiecki, Tomasz, additional, and Słowik, Agnieszka, additional

Published
2024
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14. Reflexive and voluntary saccadic eye movements as biomarker of Huntington's Disease.

Author

Grabska, Natalia, Wójcik-Pędziwiatr, Magdalena, Sławek, Jarosław, Sołtan, Witold, Gawryluk, Justyna, Szczudlik, Andrzej, and Rudzińska-Bar, Monika

Subjects
SACCADIC eye movements, HUNTINGTON disease, EYE movements, BIOMARKERS, ERROR rates
Abstract

Introduction. Subtle abnormalities in the preclinical stage of Huntington's Disease (HD) can be detected using saccadic eye movement assessment reflecting disease progression. This study was aimed to evaluate abnormalities in saccade parameters in asymptomatic carriers and symptomatic HD patients at various stages of HD. Material and methods. The study enrolled 104 participants, including 14 asymptomatic carriers of HTT mutations, 44 symptomatic HD patients, and 46 control subjects. HD severity was measured using the Unified Huntington's Disease Rating Scale Total Motor Score (UHDRS--TMS) and Total Functional Capacity Scale (TFC). The evaluation of rapid eye movements (reflexive saccades, anti-saccades, memory-guided saccades) was carried out using 'Saccadometer Research'. Results. Measures of reflexive and volitional saccades did not differ between the asymptomatic carriers and controls. Significant latency prolongation and increased physiological variability of latency times, as well as higher error rates among HD patients, were found in all saccade tasks (p < 0.001) compared to the controls. Abnormalities in saccade parameters were more pronounced in the advanced stages of the disease. Latency of saccades and error rate of volitional saccades correlated with the UHDRS--TMS and TFC scores. Conclusions. The saccade parameters in asymptomatic HD carriers with a long time to disease development were similar to those in the control group. Saccade abnormalities appeared in symptomatic patients at the beginning of the disease, and correlated with HD severity. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Diagnosis, Treatment and Long-Term Management of Vitamin B12 Deficiency in Adults: A Delphi Expert Consensus.

Author

Obeid, Rima, Andrès, Emmanuel, Češka, Richard, Hooshmand, Babak, Guéant-Rodriguez, Rosa-Maria, Prada, Gabriel Ioan, Sławek, Jarosław, Traykov, Latchezar, Ta Van, Binh, Várkonyi, Tamás, and Reiners, Karlheinz

Subjects
VITAMIN B12 deficiency, DELPHI method, DIAGNOSIS, LITERATURE reviews, BIOMARKERS
Abstract

Background/Objectives: Vitamin B12 deficiency can cause variable symptoms, which may be irreversible if not diagnosed and treated in a timely manner. We aimed to develop a widely accepted expert consensus to guide the practice of diagnosing and treating B12 deficiency. Methods: We conducted a scoping review of the literature published in PubMed since January 2003. Data were used to design a two-round Delphi survey to study the level of consensus among 42 experts. Results: The panelists agreed on the need for educational and organizational changes in the current medical practices for diagnosing and treating B12 deficiency. Recognition of clinical symptoms should receive the highest priority in establishing the diagnosis. There is agreement that the serum B12 concentration is useful as a screening marker and methylmalonic acid or homocysteine can support the diagnosis. Patient lifestyle, disease history, and medications can provide clues to the cause of B12 deficiency. Regardless of the cause of the deficiency, initial treatment with parenteral B12 was regarded as the first choice for patients with acute and severe manifestations of B12 deficiency. The use of high-dose oral B12 at different frequencies may be considered for long-term treatment. Prophylactic B12 supplementation should be considered for specific high-risk groups. Conclusions: There is a consensus that clinical symptoms need to receive more attention in establishing the diagnosis of B12 deficiency. B12 laboratory markers can support the diagnosis. The severity of clinical symptoms, the causes of B12 deficiency, and the treatment goals govern decisions regarding the route and dose of B12 therapy. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Computer Aided Feature Extraction in the Paper Version of Luria’s Alternating Series Test in Progressive Supranuclear Palsy

Author

Stępień, Paula, Kawa, Jacek, Wieczorek, Dariusz, Dąbrowska, Magda, Sławek, Jarosław, Sitek, Emilia J., Kacprzyk, Janusz, Series Editor, Pal, Nikhil R., Advisory Editor, Bello Perez, Rafael, Advisory Editor, Corchado, Emilio S., Advisory Editor, Hagras, Hani, Advisory Editor, Kóczy, László T., Advisory Editor, Kreinovich, Vladik, Advisory Editor, Lin, Chin-Teng, Advisory Editor, Lu, Jie, Advisory Editor, Melin, Patricia, Advisory Editor, Nedjah, Nadia, Advisory Editor, Nguyen, Ngoc Thanh, Advisory Editor, Wang, Jun, Advisory Editor, Pietka, Ewa, editor, Badura, Pawel, editor, Kawa, Jacek, editor, and Wieclawek, Wojciech, editor

Published
2019
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22. Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study

Author

Agarwal, Pinky, Anderson, Karen E, Aziz, Nasir A, Azulay, Jean-Phillippe, Bachoud-Levi, Anne C, Barker, Roger, Bebak, Agnieszka, Beuth, Markus, Biglan, Kevin, Blin, Stephanie, Bohlen, Stefan, Bonelli, Raphael, Caldwell, Sue, Calvas, Fabienne, Carlos, Jonielyn, Castagliuolo, Simona, Chong, Terrence, Chua, Phyllis, Coleman, Allison, Corey-Bloom, Jody, Cousins, Rebecca, Craufurd, David, Davison, Jill, Decorte, Eric, De Michele, Giuseppe, Dornhege, Laura, Feigin, Andrew, Gallehawk, Stephanie, Gauteul, Pascale, Gonzales, Carey, Griffith, Jane, Gustov, Alexander, Guttman, Mark, Heim, Beatrix, Heller, Hope, Hjermind, Lena, Illarioshkin, Sergey, Ivanko, Larry, Jaynes, Jessica, Jenckes, Mollie, Kaminski, Barbara, Kampstra, Anne, Konkel, Agnieszka, Kopishinskaya, Svetlana, Krystkowiak, Pierre, Komati, Suresh K, Kwako, Alexander, Lakoning, Stefan, Latipova, Guzal, Leavitt, Blair, Loy, Clement, MacFarlane, Cheryl, Madsen, Louise, Marder, Karen, Mason, Sarah, Mendis, Neila, Mendis, Tilak, Nemeth, Andrea, Nevitt, Louise, Norris, Virginia, O'Neill, Christine, Olivier, Audrey, Orth, Michael, Owens, Ashley, Panegyres, Peter, Perlman, Susan, Preston, Joy, Priller, Josef, Puch, Alicja, Quarrell, Oliver, Ragosta, Domenica, Rialland, Amandine, Rickards, Hugh, Romoli, Anna M, Ross, Christopher, Rosser, Anne, Rudzinska, Monika, Russo, Cinzina V, Saft, Carsten, Segro, Victoria, Seppi, Klaus, Shannon, Barbara, Shprecher, David, Simonin, Clemence, Skitt, Zara, Slawek, Jaroslaw, Soliveri, Paola, Sorbi, Sandro, Squitieri, Ferdinando, Suski, Valarie, Stepniak, Iwona, Sungmee, Park, Temirbaeva, Sofia, Testa, Claudia, Torvin-Moller, Anette, Uhl, Stefanie, Vangsted-Hansen, Christina, Verny, Christophe, Wall, Paola, Walker, Francis, Wasserman, Paula, Witkowski, Grzegorz, Wright, Jan, Zalyalova, Zuleykha, Zielonka, Daniel, Reilmann, Ralf, McGarry, Andrew, Grachev, Igor D, Savola, Juha-Matti, Borowsky, Beth, Eyal, Eli, Gross, Nicholas, Langbehn, Douglas, Schubert, Robin, Wickenberg, Anna Teige, Papapetropoulos, Spyros, Hayden, Michael, Kieburtz, Karl, and Landwehrmeyer, G Bernhard

Published
2019
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23. Axial motor clues to identify atypical parkinsonism: A multicentre European cohort study

Author

Østergaard, Karen, Stamelou, Maria, Tolosa, Eduardo, Kostic, Vladimir S., Cortelli, Pietro, Klockgether, Thomas, Dodel, Richard, Abele, Michael, Meissner, Wassilios, Reichmann, Heinz, Lynch, Tim, Slawek, Jaroslaw, Poewe, Werner, Wenning, Gregor K., Klaus Seppi, Mag, Krismer, Florian, Berg, Daniela, Ferreira, Joaquim, Houlden, Henry, Quinn, Niall P., Widner, Håkan, Gerhard, Alexander, Eggert, Karla Maria, Albanese, Alberto, Sorbo, Francesca del, Barone, Paolo, Pellecchia, Maria T., Bloem, Bas, Borm, Carlijn, Djaldetti, Ruth, Berardelli, Alfredo, Colosimo, Carlo, Berciano, Jose, Traykov, Latchezar, Giladi, Nir, Gurevich, Tanya, Rascol, Olivier, Galitzky, Monique, Gasser, Thomas, Borm, Carlijn D.J.M., Seppi, Klaus, Pellecchia, Maria Teresa, Johnsen, Erik L., Sambati, Luisa, Petrović, Igor, Kostić, Vladimir S., Brožová, Hana, Růžička, Evžen, Marti, Maria Jose, Canesi, Margherita, Post, Bart, Nonnekes, Jorik, and Bloem, Bastiaan R.

Published
2018
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27. 2-Methoxyestradiol and Hydrogen Peroxide as Promising Biomarkers in Parkinson’s Disease

Author

Bastian, Paulina, primary, Konieczna, Lucyna, additional, Dulski, Jarosław, additional, Daca, Agnieszka, additional, Jacewicz, Dagmara, additional, Płoska, Agata, additional, Knap, Narcyz, additional, Sławek, Jarosław, additional, Bączek, Tomasz, additional, Kalinowski, Leszek, additional, Drzeżdżon, Joanna, additional, Roszmann, Anna, additional, Belka, Mariusz, additional, and Górska-Ponikowska, Magdalena, additional

Published
2023
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29. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Author

Pottier, Cyril, Zhou, Xiaolai, Perkerson, Ralph B, III, Baker, Matt, Jenkins, Gregory D, Serie, Daniel J, Ghidoni, Roberta, Benussi, Luisa, Binetti, Giuliano, López de Munain, Adolfo, Zulaica, Miren, Moreno, Fermin, Le Ber, Isabelle, Pasquier, Florence, Hannequin, Didier, Sánchez-Valle, Raquel, Antonell, Anna, Lladó, Albert, Parsons, Tammee M, Finch, NiCole A, Finger, Elizabeth C, Lippa, Carol F, Huey, Edward D, Neumann, Manuela, Heutink, Peter, Synofzik, Matthis, Wilke, Carlo, Rissman, Robert A, Slawek, Jaroslaw, Sitek, Emilia, Johannsen, Peter, Nielsen, Jørgen E, Ren, Yingxue, van Blitterswijk, Marka, DeJesus-Hernandez, Mariely, Christopher, Elizabeth, Murray, Melissa E, Bieniek, Kevin F, Evers, Bret M, Ferrari, Camilla, Rollinson, Sara, Richardson, Anna, Scarpini, Elio, Fumagalli, Giorgio G, Padovani, Alessandro, Hardy, John, Momeni, Parastoo, Ferrari, Raffaele, Frangipane, Francesca, Maletta, Raffaele, Anfossi, Maria, Gallo, Maura, Petrucelli, Leonard, Suh, EunRan, Lopez, Oscar L, Wong, Tsz H, van Rooij, Jeroen G J, Seelaar, Harro, Mead, Simon, Caselli, Richard J, Reiman, Eric M, Noel Sabbagh, Marwan, Kjolby, Mads, Nykjaer, Anders, Karydas, Anna M, Boxer, Adam L, Grinberg, Lea T, Grafman, Jordan, Spina, Salvatore, Oblak, Adrian, Mesulam, M-Marsel, Weintraub, Sandra, Geula, Changiz, Hodges, John R, Piguet, Olivier, Brooks, William S, Irwin, David J, Trojanowski, John Q, Lee, Edward B, Josephs, Keith A, Parisi, Joseph E, Ertekin-Taner, Nilüfer, Knopman, David S, Nacmias, Benedetta, Piaceri, Irene, Bagnoli, Silvia, Sorbi, Sandro, Gearing, Marla, Glass, Jonathan, Beach, Thomas G, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Vonsattel, Jean-Paul, Honig, Lawrence S, Kofler, Julia, Bruni, Amalia C, Snowden, Julie, Mann, David, Pickering-Brown, Stuart, Diehl-Schmid, Janine, Winkelmann, Juliane, Galimberti, Daniela, Graff, Caroline, Öijerstedt, Linn, Troakes, Claire, Al-Sarraj, Safa, Cruchaga, Carlos, Cairns, Nigel J, Rohrer, Jonathan D, Halliday, Glenda M, Kwok, John B, van Swieten, John C, White, Charles L, III, Ghetti, Bernardino, Murell, Jill R, Mackenzie, Ian R A, Hsiung, Ging-Yuek R, Borroni, Barbara, Rossi, Giacomina, Tagliavini, Fabrizio, Wszolek, Zbigniew K, Petersen, Ronald C, Bigio, Eileen H, Grossman, Murray, Van Deerlin, Vivianna M, Seeley, William W, Miller, Bruce L, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, Biernacka, Joanna M, and Rademakers, Rosa

Published
2018
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31. Perry disease – expanding the genetic basis

Author

Dulski, Jarosław, primary, Koga, Shunsuke, additional, Liberski, Paweł P., additional, Sitek, Emilia J., additional, Butala, Ankur A., additional, Sławek, Jarosław, additional, Dickson, Dennis W., additional, and Wszolek, Zbigniew K., additional

Published
2023
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39. A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes

Author

Gaweda-Walerych, Katarzyna, primary, Sitek, Emilia J., additional, Borczyk, Małgorzata, additional, Narożańska, Ewa, additional, Brockhuis, Bogna, additional, Korostyński, Michał, additional, Schinwelski, Michał, additional, Siemiński, Mariusz, additional, Sławek, Jarosław, additional, and Zekanowski, Cezary, additional

Published
2022
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