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2. Cognitive impairment in patients awaiting kidney and liver transplantation—A clinically relevant problem?

Author

Golenia, Aleksandra, Olejnik, Piotr, Grusiecka‐Stańczyk, Magdalena, Żołek, Norbert, Wojtaszek, Ewa, Żebrowski, Paweł, Raszeja‐Wyszomirska, Joanna, and Małyszko, Jolanta

Subjects
*OLDER patients, *CIRRHOSIS of the liver, *ALANINE aminotransferase, *LYMPHOCYTE count, *LIVER diseases, *ASPARTATE aminotransferase
Abstract

Introduction: Cognitive impairment (CI) is common in both end‐stage kidney disease (ESKD) and alcohol‐related liver cirrhosis. The aim of this study was to assess the prevalence and patterns of CI in patients awaiting kidney and liver transplantation, and to identify its determinants. Methods: In this cross‐sectional, prospective study, 31 consecutive patients with ESKD and 31 consecutive patients with alcohol‐related liver cirrhosis, all currently on transplant waiting lists, were screened for cognitive decline using the Addenbrooke's Cognitive Examination. Medical history, demographics, and laboratory test results were also collected. Results: The prevalence of CI among patients with ESKD and alcohol‐related liver cirrhosis was 26% and 90%, respectively. In both groups, memory was the most affected cognitive domain, along with verbal fluency in patients with ESKD, and visuospatial abilities in patients with alcoholic cirrhosis. The most statistically significant increase in the prevalence of CI was found in patients with lower educational attainment, in both alcohol‐related liver cirrhosis and ESKD populations as well as in older patients with alcoholic cirrhosis. Furthermore, better cognitive functioning in ESKD patients was associated with higher levels of total lymphocyte count and alanine transaminase (ALT), and in alcohol‐related liver cirrhosis patients with higher levels of ALT and aspartate transaminase. A nonsignificant trend toward lower memory domain scores was also observed with increasing ammonia levels and increasing severity of liver disease (higher Child–Pugh scores). Finally, suboptimal performance on the screening test was correlated with the severity of liver disease as assessed by the Model for End‐Stage Liver Disease Sodium (MELD‐Na), but not at the statistically significant level. Conclusions: The prevalence of CI, especially in patients with alcohol‐related liver cirrhosis, is high and can be a significant clinical problem, negatively affecting the transplantation process. Routine screening tests in this group would contribute to the implementation of appropriate management, such as rehabilitation program or psychosocial treatments and facilitate the provision of specialized health care. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial

Author

De Bleecker, Jan L., De Koning, Kathy, De Mey, Katrien, De Pue, Annelien, Mercelis, Rudolf, Wyckmans, Maren, Vinck, Caroline, Wagemaekers, Linda, Baets, Jonathan, Ng, Eduardo, Shabanpour, Jafar, Daniyal, Lubna, Mannan, Shabber, Katzberg, Hans D., Genge, Angela, Siddiqi, Zaeem, Junkerová, Jana, Horakova, Jana, Reguliova, Katerina, Tyblova, Michaela, Jurajdova, Ivana, Novakova, Iveta, Jakubikova, Michala, Pitha, Jiri, Vohanka, Stanislav, Havelkova, Katerina, Horak, Tomas, Bednarik, Josef, Horakova, Mageda, Meisel, Andreas, Remstedt, Dike, Heibutzki, Claudia, Kohler, Siegfried, Gerischer, Lea, Hoffman, Sarah, Stascheit, Frauke, Vissing, John, Zafirakos, Lizzie, Khatri, Kuldeep Kumar, Autzen, Anne, Godtfeldt Stemmerik, Mads Peter, Andersen, Henning, Attarian, Shahram, Salort-Campana, Emmanuelle, Delmont, Emilien, Grapperon, Aude-Marie, Kouton, Ludivine, Tsiskaridze, Alexander, Rózsa, Csilla, Jakab, Gedeonne Margo, Toth, Szilvia, Szabo, Gyorgyi, Bors, David, Szabo, Eniko, Campanella, Angela, Vanoli, Fiammetta, Frangiamore, Rita, Antozzi, Carlo, Bonanno, Silvia, Maggi, Lorenzo, Giossi, Riccardo, Saccà, Francesco, Marsili, Angela, Pane, Chiara, Puorro, Giorgia, Reia, Antonio, Antonini, Giovanni, Alfieri, Girolamo, Morino, Stefania, Garibaldi, Matteo, Fionda, Laura, Leonardi, Luca, Konno, Shingo, Uzawa, Akiyuki, Sakuma, Kaoru, Watanabe, Chiho, Ozawa, Yukiko, Yasuda, Manato, Onishi, Yosuke, Samukawa, Makoto, Tsuda, Tomoko, Suzuki, Yasushi, Ishida, Sayaka, Watanabe, Genya, Takahashi, Masanori, Nakamura, Hiroko, Sugano, Erina, Kubota, Tomoya, Imai, Tomihiro, Suzuki., Mari, Mori, Ayako, Yamamoto, Daisuke, Ikeda, Kazuna, Hisahara, Shin, Masuda, Masayuki, Takaki, Miki, Minemoto, Kanako, Ido, Nobuhiro, Naito, Makiko, Okubo, Yoshihiko, Sugimoto, Takamichi, Takematsu, Yuka, Kamei, Ayumi, Shimizu, Mihiro, Naito, Hiroyuki, Nomura, Eiichi, Van Heur, Marjolein, Peters, Anne-Marie, Tannemaat, Martijn, Ruiter, Annabel, Keene, Kevin, Halas, Marek, Szczudlik, Andrzej, Pinkosz, Marta, Frasinska, Monika, Zwolinska, Grazyna, Kostera-Pruszczyk, Anna, Golenia, Aleksandra, Szczudlik, Piotr, Szczechowski, Lech, Pasko, Aneta, Poverennova, Irina, Urtaeva, Lubov, Kuznetsova, Nadezhda, Romanova, Tatiana, Nadezhda, Malkova, Lapochka, Elena, Korobko, Denis, Vergunova, Ilona, Melnikova, Anna, Bulatova, Ekaterina, Antipenko, Elena, Basta, Ivana, Bozovic, Ivo, Lavrnic, Dragana, Stojanovic, Vidosava Rakocevic, Beydoun, Said, Akhter, Salma, Malekniazi, Ali, Darki, Leila, Pimentel, Norianne, Cannon, Victoria, Chopra, Manisha, Traub, Rebecca, Mozaffar, Tahseen, Hernandez, Isela, Turner, Ivonne, Habib, Ali, Goyal, Namita, Kak, Manisha, Velasquez, Erik, Lam, Lucy, Suresh, Niraja, Farias, Jerrica, Jones, Sarah, Wagoner, Mary, Eggleston, Debbie, Bertorini, Tulio, Benzel, Cindy, Henegar, Robert, Pillai, Rekha, Bharavaju-Sanka, Ratna, Paiz, Carolyn, Jackson, Carlayne, Ruzhansky, Katherine, Dimitrova, Diana, Visser, Amy, Chahin, Nizar, Levine, Todd, Lisak, Robert, Jia, Kelly, Mada, Flicia, Bernitsas, Evanthia, Pasnoor, Mamatha, Roath, Katherine, Colgan, Samantha, Currence, Melissa, Heim, Andrew, Barohn, Richard, Dimachkie, Mazen, Statland, Jeffrey, Jawdat, Omar, Jabari, Duaa, Farmakidis, Constantine, Gilchrist, James, Li, Yuebing, Caristo, Irys, Hastings, Debbie, Morren, John Anthony, Weiss, Michael, Muppidi, Srikanth, Nguyen, Tia, Welsh, Lesly, So, Yuen, Goyal, Neelam, Pulley, Michael, Bailey, Cathy, Quraishi, Zubair, Berger, Alan, Sahagian, Gregory, Camberos, Yasmin, Frishberg, Benjamin, Howard, James F, Jr, Bril, Vera, Vu, Tuan, Karam, Chafic, Peric, Stojan, Margania, Temur, Murai, Hiroyuki, Bilinska, Malgorzata, Shakarishvili, Roman, Smilowski, Marek, Guglietta, Antonio, Ulrichts, Peter, Vangeneugden, Tony, Utsugisawa, Kimiaki, Verschuuren, Jan, and Mantegazza, Renato

Published
2021
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4. The Clock Drawing Task reveals executive dysfunction in the dialysis population – an underrecognized and underestimated problem.

Author

Olejnik, Piotr, Golenia, Aleksandra, Maciejewska, Oliwia, Wojtaszek, Ewa, Żebrowski, Paweł, and Małyszko, Jolanta

Subjects
*DIALYSIS (Chemistry), *RENAL replacement therapy, *CHRONIC kidney failure, *HEMODIALYSIS, *CARDIOVASCULAR diseases risk factors
Abstract

The study aimed to assess the prevalence of executive function impairment among patients with chronic kidney disease (CKD) undergoing dialysis, with no subjective cognitive problems and with normal global cognition on the Mini-Mental State Examination (MMSE). We also investigated the relationship between cardiovascular risk factors and cognitive test results. Patients with CKD, including those undergoing renal replacement therapy, are at a higher risk of developing cognitive impairment (CI) than the general population. Recent research has shown CI to be a growing problem among CKD patients worldwide. Yet, it remains underdiagnosed, even though it may significantly influence the lives of patients. In this cross-sectional, prospective study, 58 dialysis patients with no cognitive decline on the MMSE screening were assessed for executive function impairment using the Executive Clock-Drawing Task (CLOX). Moreover, past medical history, demographic data, and laboratory test results were collected. The mean patient age was 59.47 ± 14.98 years, and the mean duration of dialysis was 45.93 ± 48.49 months. The prevalence of executive function impairment amounted to 8.6%. Moreover, remarkably similar pattern of clock drawing was observed, with numbers written outside the clock face in the CLOX1 test. Executive dysfunctions in dialysis patients may manifest itself before the onset of global cognitive impairment. There appear to be a deficit in the spatial domain as well. Better education may play a protective role. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Methodological challenges and biases in the field of cognitive function among patients with chronic kidney disease

Author

Giannakou, Konstantinos, primary, Golenia, Aleksandra, additional, Liabeuf, Sophie, additional, Malyszko, Jolanta, additional, Mattace-Raso, Francesco, additional, Farinha, Ana, additional, Spasovski, Goce, additional, Hafez, Gaye, additional, Wiecek, Andrzej, additional, Capolongo, Giovanna, additional, Capasso, Giovambattista, additional, Massy, Ziad A., additional, and Pépin, Marion, additional

Published
2023
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7. Drugs with a negative impact on cognitive functions (Part 2): drug classes to consider while prescribing in CKD patients.

Author

Hafez, Gaye, Malyszko, Jolanta, Golenia, Aleksandra, Klimkowicz-Mrowiec, Aleksandra, Ferreira, Ana Carina, Arıcı, Mustafa, Bruchfeld, Annette, Nitsch, Dorothea, Massy, Ziad A, Pépin, Marion, Capasso, Giovambattista, Mani, Laila-Yasmin, Liabeuf, Sophie, and Target), CONNECT Action (Cognitive Decline in Nephro-Neurology European Cooperative

Subjects
DRUG side effects, DRUG prescribing, CHRONIC kidney failure, COGNITIVE ability, PSYCHIATRIC drugs
Abstract

There is growing evidence that chronic kidney disease (CKD) is an independent risk factor for cognitive impairment, especially due to vascular damage, blood–brain barrier disruption and uremic toxins. Given the presence of multiple comorbidities, the medication regimen of CKD patients often becomes very complex. Several medications such as psychotropic agents, drugs with anticholinergic properties, GABAergic drugs, opioids, corticosteroids, antibiotics and others have been linked to negative effects on cognition. These drugs are frequently included in the treatment regimen of CKD patients. The first review of this series described how CKD could represent a risk factor for adverse drug reactions affecting the central nervous system. This second review will describe some of the most common medications associated with cognitive impairment (in the general population and in CKD) and describe their effects. [ABSTRACT FROM AUTHOR]

Published
2023
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11. Cognitive disorders in patients with chronic kidney disease: Approaches to prevention and treatment.

Author

Pépin, Marion, Klimkowicz‐Mrowiec, Aleksandra, Godefroy, Olivier, Delgado, Pilar, Carriazo, Sol, Ferreira, Ana Carina, Golenia, Aleksandra, Malyszko, Jolanta, Grodzicki, Tomasz, Giannakou, Konstantinos, Paolisso, Giuseppe, Barbieri, Michelangela, Garneata, Liliana, Mocanu, Carmen Antonia, Liabeuf, Sophie, Spasovski, Goce, Zoccali, Carmine, Bruchfeld, Annette, Farinha, Ana, and Arici, Mustafa

Subjects
CHRONIC kidney failure, CHRONICALLY ill, COGNITION disorders, PREVENTIVE medicine, KIDNEY physiology
Abstract

Background: Cognitive impairment is common in patients with chronic kidney disease (CKD), and early intervention may prevent the progression of this condition. Methods: Here, we review interventions for the complications of CKD (anemia, secondary hyperparathyroidism, metabolic acidosis, harmful effects of dialysis, the accumulation of uremic toxins) and for prevention of vascular events, interventions that may potentially be protective against cognitive impairment. Furthermore, we discuss nonpharmacological and pharmacological methods to prevent cognitive impairment and/or minimize the latter's impact on CKD patients' daily lives. Results: A particular attention on kidney function assessment is suggested during work‐up for cognitive impairment. Different approaches are promising to reduce cognitive burden in patients with CKD but the availabe dedicated data are scarce. Conclusions: There is a need for studies assessing the effect of interventions on the cognitive function of patients with CKD. [ABSTRACT FROM AUTHOR]

Published
2023
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14. Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial

Author

Howard, James F, primary, Bril, Vera, additional, Vu, Tuan, additional, Karam, Chafic, additional, Peric, Stojan, additional, Margania, Temur, additional, Murai, Hiroyuki, additional, Bilinska, Malgorzata, additional, Shakarishvili, Roman, additional, Smilowski, Marek, additional, Guglietta, Antonio, additional, Ulrichts, Peter, additional, Vangeneugden, Tony, additional, Utsugisawa, Kimiaki, additional, Verschuuren, Jan, additional, Mantegazza, Renato, additional, De Bleecker, Jan L., additional, De Koning, Kathy, additional, De Mey, Katrien, additional, De Pue, Annelien, additional, Mercelis, Rudolf, additional, Wyckmans, Maren, additional, Vinck, Caroline, additional, Wagemaekers, Linda, additional, Baets, Jonathan, additional, Ng, Eduardo, additional, Shabanpour, Jafar, additional, Daniyal, Lubna, additional, Mannan, Shabber, additional, Katzberg, Hans D., additional, Genge, Angela, additional, Siddiqi, Zaeem, additional, Junkerová, Jana, additional, Horakova, Jana, additional, Reguliova, Katerina, additional, Tyblova, Michaela, additional, Jurajdova, Ivana, additional, Novakova, Iveta, additional, Jakubikova, Michala, additional, Pitha, Jiri, additional, Vohanka, Stanislav, additional, Havelkova, Katerina, additional, Horak, Tomas, additional, Bednarik, Josef, additional, Horakova, Mageda, additional, Meisel, Andreas, additional, Remstedt, Dike, additional, Heibutzki, Claudia, additional, Kohler, Siegfried, additional, Gerischer, Lea, additional, Hoffman, Sarah, additional, Stascheit, Frauke, additional, Vissing, John, additional, Zafirakos, Lizzie, additional, Khatri, Kuldeep Kumar, additional, Autzen, Anne, additional, Godtfeldt Stemmerik, Mads Peter, additional, Andersen, Henning, additional, Attarian, Shahram, additional, Salort-Campana, Emmanuelle, additional, Delmont, Emilien, additional, Grapperon, Aude-Marie, additional, Kouton, Ludivine, additional, Tsiskaridze, Alexander, additional, Rózsa, Csilla, additional, Jakab, Gedeonne Margo, additional, Toth, Szilvia, additional, Szabo, Gyorgyi, additional, Bors, David, additional, Szabo, Eniko, additional, Campanella, Angela, additional, Vanoli, Fiammetta, additional, Frangiamore, Rita, additional, Antozzi, Carlo, additional, Bonanno, Silvia, additional, Maggi, Lorenzo, additional, Giossi, Riccardo, additional, Saccà, Francesco, additional, Marsili, Angela, additional, Pane, Chiara, additional, Puorro, Giorgia, additional, Reia, Antonio, additional, Antonini, Giovanni, additional, Alfieri, Girolamo, additional, Morino, Stefania, additional, Garibaldi, Matteo, additional, Fionda, Laura, additional, Leonardi, Luca, additional, Konno, Shingo, additional, Uzawa, Akiyuki, additional, Sakuma, Kaoru, additional, Watanabe, Chiho, additional, Ozawa, Yukiko, additional, Yasuda, Manato, additional, Onishi, Yosuke, additional, Samukawa, Makoto, additional, Tsuda, Tomoko, additional, Suzuki, Yasushi, additional, Ishida, Sayaka, additional, Watanabe, Genya, additional, Takahashi, Masanori, additional, Nakamura, Hiroko, additional, Sugano, Erina, additional, Kubota, Tomoya, additional, Imai, Tomihiro, additional, Suzuki., Mari, additional, Mori, Ayako, additional, Yamamoto, Daisuke, additional, Ikeda, Kazuna, additional, Hisahara, Shin, additional, Masuda, Masayuki, additional, Takaki, Miki, additional, Minemoto, Kanako, additional, Ido, Nobuhiro, additional, Naito, Makiko, additional, Okubo, Yoshihiko, additional, Sugimoto, Takamichi, additional, Takematsu, Yuka, additional, Kamei, Ayumi, additional, Shimizu, Mihiro, additional, Naito, Hiroyuki, additional, Nomura, Eiichi, additional, Van Heur, Marjolein, additional, Peters, Anne-Marie, additional, Tannemaat, Martijn, additional, Ruiter, Annabel, additional, Keene, Kevin, additional, Halas, Marek, additional, Szczudlik, Andrzej, additional, Pinkosz, Marta, additional, Frasinska, Monika, additional, Zwolinska, Grazyna, additional, Kostera-Pruszczyk, Anna, additional, Golenia, Aleksandra, additional, Szczudlik, Piotr, additional, Szczechowski, Lech, additional, Pasko, Aneta, additional, Poverennova, Irina, additional, Urtaeva, Lubov, additional, Kuznetsova, Nadezhda, additional, Romanova, Tatiana, additional, Nadezhda, Malkova, additional, Lapochka, Elena, additional, Korobko, Denis, additional, Vergunova, Ilona, additional, Melnikova, Anna, additional, Bulatova, Ekaterina, additional, Antipenko, Elena, additional, Basta, Ivana, additional, Bozovic, Ivo, additional, Lavrnic, Dragana, additional, Stojanovic, Vidosava Rakocevic, additional, Beydoun, Said, additional, Akhter, Salma, additional, Malekniazi, Ali, additional, Darki, Leila, additional, Pimentel, Norianne, additional, Cannon, Victoria, additional, Chopra, Manisha, additional, Traub, Rebecca, additional, Mozaffar, Tahseen, additional, Hernandez, Isela, additional, Turner, Ivonne, additional, Habib, Ali, additional, Goyal, Namita, additional, Kak, Manisha, additional, Velasquez, Erik, additional, Lam, Lucy, additional, Suresh, Niraja, additional, Farias, Jerrica, additional, Jones, Sarah, additional, Wagoner, Mary, additional, Eggleston, Debbie, additional, Bertorini, Tulio, additional, Benzel, Cindy, additional, Henegar, Robert, additional, Pillai, Rekha, additional, Bharavaju-Sanka, Ratna, additional, Paiz, Carolyn, additional, Jackson, Carlayne, additional, Ruzhansky, Katherine, additional, Dimitrova, Diana, additional, Visser, Amy, additional, Chahin, Nizar, additional, Levine, Todd, additional, Lisak, Robert, additional, Jia, Kelly, additional, Mada, Flicia, additional, Bernitsas, Evanthia, additional, Pasnoor, Mamatha, additional, Roath, Katherine, additional, Colgan, Samantha, additional, Currence, Melissa, additional, Heim, Andrew, additional, Barohn, Richard, additional, Dimachkie, Mazen, additional, Statland, Jeffrey, additional, Jawdat, Omar, additional, Jabari, Duaa, additional, Farmakidis, Constantine, additional, Gilchrist, James, additional, Li, Yuebing, additional, Caristo, Irys, additional, Hastings, Debbie, additional, Morren, John Anthony, additional, Weiss, Michael, additional, Muppidi, Srikanth, additional, Nguyen, Tia, additional, Welsh, Lesly, additional, So, Yuen, additional, Goyal, Neelam, additional, Pulley, Michael, additional, Bailey, Cathy, additional, Quraishi, Zubair, additional, Berger, Alan, additional, Sahagian, Gregory, additional, Camberos, Yasmin, additional, and Frishberg, Benjamin, additional

Published
2021
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18. Mechanical thrombectomy in acute stroke – Five years of experience in Poland

Author

Słowik, Agnieszka, primary, Wnuk, Marcin, additional, Brzegowy, Paweł, additional, Chrzanowska-Waśko, Joanna, additional, Golenia, Aleksandra, additional, Łasocha, Bartłomiej, additional, Włoch-Kopeć, Dorota, additional, Ferens, Antoni, additional, Serednicki, Wojciech, additional, Jarocki, Piotr, additional, Bartosik-Psujek, Halina, additional, Kaczorowski, Rafał, additional, Filip, Edward, additional, Grzegorzak, Monika, additional, Homa, Jarosław, additional, Darocha, Janusz, additional, Dudek, Daniel, additional, Guz, Wiesław, additional, Rejdak, Konrad, additional, Luchowski, Piotr, additional, Wojczal, Joanna, additional, Sojka, Michał, additional, Górnik, Michał, additional, Stachowicz, Sylwia, additional, Jaworski, Jacek, additional, Buraczyńska, Kinga, additional, Ficek, Remigiusz, additional, Szczepańska-Szerej, Anna, additional, Jargiełło, Tomasz, additional, Szczerbo-Trojanowska, Małgorzata, additional, Lasek-Bal, Anetta, additional, Puz, Przemysław, additional, Warsz-Wianecka, Aldona, additional, Stęposz, Arkadiusz, additional, Ziaja, Krzysztof, additional, Kuczmik, Wacław, additional, Urbanek, Tomasz, additional, Ziaja, Damian, additional, Tomalski, Witold, additional, Kobayashi, Adam, additional, Richter, Przemysław, additional, Płoński, Andrzej, additional, Kotkowski, Marcin, additional, Czepiel, Wojciech, additional, Kurkowska-Jastrzębska, Iwona, additional, Sienkiewicz-Jarosz, Halina, additional, Członkowska, Anna, additional, BłażejewskaHyżorek, Beata, additional, Ryglewicz, Danuta, additional, Konopko, Magdalena, additional, Brelak, Edyta, additional, Antecki, Jacek, additional, Szydłowski, Igor, additional, Włosek, Maciej, additional, Stępień, Adam, additional, Brzozowski, Krzysztof, additional, Staszewski, Jacek, additional, Piasecki, Piotr, additional, Zięcina, Piotr, additional, Wołoszyńska, Izabela, additional, Kolmaga, Norbert, additional, Narloch, Jerzy, additional, Hasiec, Tomasz, additional, Gawłowicz, Jacek, additional, Pędracka, Monika, additional, Porębiak, Jacek, additional, Grzechnik, Bogumił, additional, Matsibora, Vadym, additional, Frąszczak, Michał, additional, Leus, Marcin, additional, Mazgaj, Maciej, additional, Palacz-Duda, Violetta, additional, Meder, Grzegorz, additional, Skura, Wojciech, additional, Płeszka, Piotr, additional, Świtońska, Milena, additional, Słomiński, Krzysztof, additional, Kościelniak, Józef, additional, Sobieszak-Skura, Paulina, additional, Konieczna-Brazis, Magdalena, additional, Rowiński, Olgierd, additional, Opuchlik, Andrzej, additional, Mickielewicz, Anatol, additional, Szyluk, Beata, additional, Szczudlik, Piotr, additional, Kostera-Pruszczyk, Anna, additional, Jaworski, Maciej, additional, Maciąg, Rafał, additional, Żyłkowski, Jarosław, additional, Adamkiewicz, Bożena, additional, Szubert, Wojciech, additional, Chrząstek, Jarosław, additional, Raźniewski, Marek, additional, Pawelec, Agnieszka, additional, Wilimborek, Paweł, additional, Wagner, Ryszard, additional, Pilarski, Paweł, additional, Gierach, Paweł, additional, Baron, Jan, additional, Gruszka, Wojciech, additional, Ochudło, Stanisław, additional, Krzak-Kubica, Agnieszka, additional, Rudzińska-Bar, Monika, additional, Zbroszczyk, Miłosz, additional, Smulska, Kamila, additional, Arkuszewski, Michał, additional, Różański, Dorota, additional, Koziorowski, Dariusz, additional, Meisner-Kramarz, Izabela, additional, Szlufik, Stanisław, additional, Zaczyński, Artur, additional, Kądziołka, Krzysztof, additional, Kordecki, Kazimierz, additional, Zawadzki, Michał, additional, Ząbek, Mirosław, additional, Karaszewski, Bartosz, additional, Gąsecki, Dariusz, additional, Łowiec, Paweł, additional, Dorniak, Waldemar, additional, Gorycki, Tomasz, additional, Szurowska, Edyta, additional, Wierzchowska-Cioch, Ewa, additional, Smyk, Tomasz, additional, Szajnoga, Beata, additional, Bachta, Marcin, additional, Mazurek, Kajetan, additional, Piwowarska, Magdalena, additional, Kociemba, Wojciech, additional, Drużdż, Artur, additional, Dąbrowski, Adrian, additional, Glonek, Michał, additional, Wawrzyniak, Małgorzata, additional, Kaźmierski, Radosław, additional, Juszkat, Robert, additional, Heliosz, Adam, additional, Ryszczyk, Adam, additional, Zwiernik, Jacek, additional, Wasilewski, Grzegorz, additional, Tutaj, Andrzej, additional, Dałek, Grzegorz, additional, Nosek, Krzysztof, additional, Bereza, Sławomir, additional, Lubkowska, Katarzyna, additional, Kamienowski, Jerzy, additional, Sobolewski, Piotr, additional, Bielecki, Adam, additional, Miś, Maciej, additional, Miś, Marcin, additional, Krużewska-Orłowska, Maria, additional, Kochanowicz, Jan, additional, Mariak, Zenon, additional, Jakoniuk, Marta, additional, Turek, Grzegorz, additional, Łebkowska, Urszula, additional, Lewszuk, Andrzej, additional, Dziedzic, Tomasz, additional, and Popiela, Tadeusz, additional

Published
2017
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21. ALS-FTD complex disorder due to C9ORF72 gene mutation : description of first Polish family

Author

Siuda, Joanna, Lewicka, Tatiana, Bujak, Malgorzata, Opala, Grzegorz, Golenia, Aleksandra, Słowik, Agnieszka, van Blitterswijk, Marka, Baker, Matt, Ertekin-Taner, Nilufer, Wszołek, Zbigniew, and Rademakers, Rosa

Subjects
mental disorders, Human medicine
Abstract

Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion. Methods: We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for C9ORF72 expansions. Family members were evaluated clinically, by history, and by chart review. Results: Overall, 5 generations of the family were studied, and 6 affected family members were identified. All affected members were females and had a different clinical presentation, which was ALS, FTD or both. Among the genetically evaluated subjects, 5 carried a C9ORF72 expansion; 4 of these individuals remain clinically unaffected. Conclusion: Our report reveals that the hexanucleotide repeat expansion of C9ORF72, which is the most common genetic cause of ALS-FTD complex disorder, is also present in Central-Eastern Europe. Further studies are needed to assess the frequency of this expansion in the Polish population with familial as well as sporadic ALS, FTD and the ALS-FTD complex disorder. (C) 2014 S. Karger AG, Basel

Published
2014

22. rs2070424 of the SOD1 gene is associated with risk of Alzheimer's disease

Author

Golenia Aleksandra, Aleksanda Klimkowicz-Mrowiec, Karolina Spisak, Tomasz Dziedzic, Joanna Pera, and Agnieszka Slowik

Subjects
Apolipoprotein E, Male, Genotype, Protective factor, Single-nucleotide polymorphism, Disease, Polymorphism, Single Nucleotide, Apolipoproteins E, Superoxide Dismutase-1, Gene Frequency, Polymorphism (computer science), Alzheimer Disease, Risk Factors, Medicine, Humans, Genetic Predisposition to Disease, Risk factor, Gene, Aged, Genetics, Aged, 80 and over, business.industry, Superoxide Dismutase, Surgery, Female, Neurology (clinical), Poland, business
Abstract

Objective Oxidative stress plays an important role in Alzheimer's disease (AD) etiopathogenesis. There were several studies that showed impaired antioxidant defense system (ADS) enzymes expression or activity in AD patients. There are only few studies evaluating the importance of ADS gene single nucleotide polymorphisms (SNPs) as risk factors of AD. We evaluated association between chosen SNPs of the enzymes of the ADS and risk of AD. Methods We included 400 AD patients and 402 healthy controls. We studied rs1041740, rs4998557 and rs2070424 of the SOD1 gene, rs2855116, rs5746136 and rs4880 of the SOD2 gene and rs3448, rs1050450 and rs1800668 of the GPx-1 gene (real time PCR). To determine the APOE gene common polymorphism, two single-nucleotide polymorphisms (SNPs; NCBI SNPs rs429358 and rs7412) were genotyped (TaqMan assays, Applied Biosystems [ABI], Foster City, CA, USA). The genotype and gender frequencies were compared between the studied groups by the χ 2 test and mean age by the t -Student test. Results Among all studied SNPs only rs2070424 of the SOD1 gene was a protective factor for AD in an additive (OR = 0.47; 95% CI = 0.30–0.74, p = 0.001) and recessive (OR = 0.47; 95% CI = 0.30–0.75, p = 0.002) models including age, gender and APOE gene status. Conclusions rs2070424 polymorphism of the SOD1 gene is a risk factor for AD in Polish population. Allel G and genotype AG and GG are protective factors for AD.

Published
2014

23. Sympathetic vascular response to facial cooling is increased in flail phenotypes of amyotrophic lateral sclerosis.

Author

Tutaj, Marcin, Miller, MaŁgorzata, Tomik, Barbara, Golenia, Aleksandra, Stanuszek, Agnieszka, BŁońska, Katarzyna, and SŁowik, Agnieszka

Subjects
AMYOTROPHIC lateral sclerosis, PHENOTYPES, AUTONOMIC nervous system, PAROXYSMAL sympathetic hyperactivity, DYSAUTONOMIA
Abstract

Objective : To assess cardiovascular responses to cold face test (CFT) in patients with classic-onset ALS (bulbar or limb onset, ALS-C) and in patients with flail arm and flail leg phenotypes (FA/FL). Methods : In 18 ALS-C, eight FA/FL patients and 10 age-matched controls we continuously monitored heart rate (HR), systolic (SBP), diastolic (DBP) and mean blood pressure (MBP) during two-minute baseline and one-minute cold stimulus application. HR and BP responses to CFT were calculated as differences between the peak responses and baseline values (dHR, dSBP, dDBP, dMBP), as percent changes from baseline (dHR%, dSBP%, dDBP%, dMBP%), and also latencies and durations of HR and BP responses were assessed (LatHR, tHR, LatBP, tBP). Results : There were no differences in baseline values of HR, SBP, DBP and MBP among ALS-C, FA/FL and controls (p > 0.05). A decrease in HR and increases in SBP, DBP and MBP were observed in all subjects (p < 0.05). However, in FA/FL, the magnitude of BP responses, i.e. dSBP, dSBP%, dDBP, dMBP, and dMBP% were significantly higher than in controls. Moreover, these BP responses occurred with a significantly shorter latency in FA/FL than in controls and ALS-C. Furthermore, duration of the BP changes was significantly longer in FA/FL than in ALS-C. In contrast, ALS-C patients had a significantly longer LatHR and shorter tHR than healthy persons. However, no significant differences were observed in dHR or dHR% among the three groups. Conclusions : Sympathetic vascular response to facial cooling is increased in flail phenotypes of ALS. [ABSTRACT FROM AUTHOR]

Published
2018
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26. The FGA Thr312Ala polymorphism and risk of intracerebral haemorrhage in Polish and Greek populations

Author

Jagiełła, Jeremiasz, primary, Dardiotis, Efthimios, additional, Gąsowski, Jerzy, additional, Pera, Joanna, additional, Dziedzic, Tomasz, additional, Klimkowicz-Mrowiec, Aleksandra, additional, Golenia, Aleksandra, additional, Wnuk, Marcin, additional, Fountas, Kostas, additional, Paterakis, Konstantinos, additional, Hadjigeorgiou, Georgios, additional, and Słowik, Agnieszka, additional

Published
2014
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28. Letter to the Editor

Author

Adamski, Mateusz G., primary, Turaj, Wojciech, additional, Wnuk, Marcin, additional, Golenia, Aleksandra, additional, Krupa, Mariusz, additional, Moskala, Marek, additional, Szczudlik, Andrzej, additional, and Słowik, Agnieszka, additional

Published
2010
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30. The AGTR1gene A1166C polymorphism as a risk factor and outcome predictor of primary intracerebral and aneurysmal subarachnoid hemorrhages

Author

Adamski, Mateusz G., Golenia, Aleksandra, Turaj, Wojciech, Baird, Alison E., Moskala, Marek, Dziedzic, Tomasz, Szczudlik, Andrzej, Slowik, Agnieszka, and Pera, Joanna

Abstract

Associations between the angiotensin II type 1 receptor (AGTR1) gene A1166C polymorphism and hypertension, aortic abdominal aneurysms (as a risk factor) as well as cardiovascular disorders (as a risk factor and an outcome predictor) have been demonstrated. We aimed to investigate the role of this polymorphism as risk factors and outcome predictors in primary intracerebral hemorrhage (PICH) and aneurysmal subarachnoid hemorrhage (aSAH).

Published
2014
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31. ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.

Author

Siuda J, Lewicka T, Bujak M, Opala G, Golenia A, Slowik A, van Blitterswijk M, Baker M, Ertekin-Taner N, Wszolek ZK, and Rademakers R

Subjects
Amyotrophic Lateral Sclerosis pathology, Amyotrophic Lateral Sclerosis physiopathology, Brain pathology, C9orf72 Protein, DNA Mutational Analysis, Family, Female, Frontotemporal Dementia pathology, Frontotemporal Dementia physiopathology, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Pedigree, Poland, White People genetics, Amyotrophic Lateral Sclerosis genetics, DNA Repeat Expansion, Frontotemporal Dementia genetics, Proteins genetics
Abstract

Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion., Methods: We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for C9ORF72 expansions. Family members were evaluated clinically, by history, and by chart review., Results: Overall, 5 generations of the family were studied, and 6 affected family members were identified. All affected members were females and had a different clinical presentation, which was ALS, FTD or both. Among the genetically evaluated subjects, 5 carried a C9ORF72 expansion; 4 of these individuals remain clinically unaffected., Conclusion: Our report reveals that the hexanucleotide repeat expansion of C9ORF72, which is the most common genetic cause of ALS-FTD complex disorder, is also present in Central-Eastern Europe. Further studies are needed to assess the frequency of this expansion in the Polish population with familial as well as sporadic ALS, FTD and the ALS-FTD complex disorder., (© 2014 S. Karger AG, Basel.)

Published
2014
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32. Factor XIII.

Author

Adamski MG, Turaj W, Wnuk M, Golenia A, Krupa M, Moskala M, Szczudlik A, and Słowik A

Subjects
Genetic Predisposition to Disease, Humans, Factor XIII genetics, Polymorphism, Single Nucleotide, Subarachnoid Hemorrhage genetics
Published
2010
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