Search

Your search keyword '"Palibrk, Aleksa"' showing total 26 results
Start Over Author "Palibrk, Aleksa"
26 results on '"Palibrk, Aleksa"'

2. Erythrocyte fatty acid aberrations in Amyotrophic Lateral Sclerosis: Correlation with disease duration

Author

Minić Rajna, Arsić Aleksandra, Kojadinović Milica, Palibrk Aleksa, Đorđević Brizita, and Stević Zorica

Subjects
amyotrophic lateral sclerosis, metabolism, monounsaturated fatty acids, polyunsaturated fatty acids, saturated fatty acids, Biochemistry, QD415-436
Abstract

Background: Recent literature data highlights metabolic changes in amyotrophic lateral sclerosis (ALS). To explore possible early metabolic changes, we aimed to analyse the fatty acids (FA) composition of erythrocytes in newly diagnosed als patients and to see whether fatty acid levels correlate with the ALSFRS-R score or disease duration. Methods: The severity of motor function involvement was assessed by the ALSFRS-R scale at the initial evaluation. The fatty acid profile of erythrocyte membranes was analysed by gas-liquid chromatography. The study comprised 26 clinically diagnosed als patients, with mean ALSFRS-R 38±8. The control group included 26 healthy volunteers. Results: Significantly higher levels of palmitic acid and total saturated FAs were detected in als patients. In als patients, total monounsaturated FA, palmitoleic, vaccenic, and oleic acid were also significantly increased. The levels of eicosapentaenoic acid, docosapentaenoic acid, total polyunsaturated FA (PUFA) and n-6 PUFA were significantly lower in als patients. Additionally, a-linolenic acid, the precursor of the n-3 PUFA family, was not detected in als patients. We found no significant correlation between the ALSFRS-R score and the abundance of individual FAs analysed. A moderate negative correlation was found between disease duration and DHA level, and a positive correlation was detected with MUFA. Conclusion: Experimental evidence presented may contribute to shaping a beneficial nutritional intervention.

Published
2023
Full Text
View/download PDF

3. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Author

Genge, Angela, Massie, Rami, Berube, Maxime, Bril, Vera, Daniyal, Lubna, Mannan, Shabber, Ng, Eduardo, Raman, Ritesh Rohan Raghu, Sarpong, Evelyn, Alcantara, Monica, Dionne, Annie, Siddiqi, Zaeem, Blackmore, Derrick, Hussain, Faraz, Matte, Genevieve, Botez, Stephan, Tyblova, Michaela, Jakubikova, Michala, Junkerova, Jana, Vissing, John, Witting, Nanna, Holm-Yildiz, Sonja, Stemmerik, Mads, Andersen, Henning, Obál, Izabella, Solé, Guilhem, Mathis, Stéphane, Violleau, Marie-Hélène, Tranchant, Christine, Messai, Sihame, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Verloes, Arnaud, Zaidi, Leila, Sacconi, Sabrina, Gambella, Manuela, Cavalli, Michele, Stojkovic, Tanya, Demeret, Sophie, Le Guennec, Loic, Querin, Giorgia, Weiss, Nicolas, Masingue, Marion, Magy, Laurent, Ghorab, Karima, Rukhadze, Ia, Tsiskaridze, Alexander, Janelidze, Marina, Margania, Temur, Then Bergh, Florian, Hänsel, Eike, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Teußer, Lars-Malte, Unterlauft, Astrid, Goedel, Clemens, Hagenacker, Tim, Totzeck, Andreas, Stolte, Benjamin, Blaes, Franz, Bindler, Christine, Tsoutsikas, Vasilios, Roediger, Annekathrin, Geis, Christian, Schmidt, Jens, Zschüntzsch, Jana, Schwarz, Margret, Meyer, Stefanie, Kummer, Karsten, Glaubitz, Stefanie, Zeng, Rachel, Wiendl, Heinz, Klotz, Luisa, Lammerskitten, Anna, Lünemann, Jan, Diószeghy, Péter, Mantegazza, Renato, Maggi, Lorenzo, Rinaldi, Elena, Gastaldi, Matteo, Mazzacane, Federico, Businaro, Pietro, Iorio, Raffaele, Antonini, Giovanni, Fionda, Laura, Rinaldi, Rita, Rossi, Simone, Habetswallner, Francesco, Tuccillo, Francesco, Umehara, Haruna, Uenaka, Eiko, Takahashi, Masanori, Higashi, Keiko, Kinoshita, Makoto, Yoneda, Emika, Nakamura, Noriko, Fujita, Saeka, Kubota, Tomoya, Ono, Masami, Yamamoto, Sana, Hatano, Taku, Oikoshi, Kazuki, Yokoyama, Kazumasa, Oji, Yutaka, Tomizawa, Yuji, Uzawa, Akiyuki, Yasuda, Manato, Akita, Sachiko, Ozawa, Yukiko, Onishi, Yosuke, Takaki, Miki, Yamada, Hiromi, Minemoto, Kanako, Sanko, Miki, Izawa, Nanae, Nakayama, Mayumi, Masuda, Masayuki, Tsuji, Rune, Ido, Nobuhiro, Hyodo, Yumi, Okubo, Yoshihiko, Minohara, Akiko, Haraguchi, Nana, Naito, Makiko, Yoshida, Seiko, Fukushige, Yuri, Tsujino, Akira, Nagaoka, Atsushi, Miyazaki, Teiichiro, Yoshimura, Shunsuke, Hirayama, Takuro, Shima, Tomoaki, Okamoto, Naoko, Matsumoto, Riki, Sekiguchi, Kenji, Ueda, Takehiro, Chihara, Norio, Kirimura, Mari, Sunagawa, Emi, Suzuki, Ayaka, Suzuki, Shigeaki, Wada, Aozora, Ishizuchi, Kei, Suzuki, Yasushi, Yata, Mitsuo, Komatsu, Yuka, Tsukita, Kenichi, Watanabe, Genya, Sato, Kazuki, Kawasaki, Emiko, Yamamoto, Naoki, Ono, Hirohiko, Tsuda, Tomoko, Ohashi, Shigeki, Utsugisawa, Kimiaki, Fujisawa, Yuka, Yokota, Yumiko, Nagane, Yuriko, Ayumi, Kameda, Takematsu, Yuka, Naito, Hiroyuki, Sugimoto, Takamichi, Kuwada, Kumiko, Rejdak, Konrad, Szklener, Sebastian, Kitowska, Monika, Derkacz, Kandyda, Druzdz, Artur, Berkowicz, Tomasz, Budzinska, Paulina, Halas, Marek, Zaslavskiy, Leonid, Skornyakova, Evgeniya, Kotov, Sergey, Novikova, Ekaterina, Sidorova, Olga, Goldobin, Vitalii, Alekseeva, Tatiana, Isabekova, Patimat, Malkova, Nadezhda, Korobko, Denis, Djordjevic, Gordana, Stojanov, Aleksandar, Peric, Stojan, Lavrnic, Dragana, Bozovic, Ivo, Palibrk, Aleksa, Casasnovas, Carlos, Nedkova-Hristova, Velina, Vidal Fernández, Nuria, Cortés Vicente, Elena, Querol Gutiérrez, Luis, Salvadó Figueras, Maria, Canovas Segura, Anna, Juntas Morales, Raúl, Sanchez Tejerina, Daniel, Saiz, Albert, Blanco Morgado, Yolanda, Llufriú Durán, Sara, Sepúlveda Gázquez, María, Martínez Hernández, Eugenia María, Gutiérrez Gutiérrez, Gerardo, Iniesta, Paqui, Meca Lallana, José, Guo, Yuh-Cherng, Chiu, Hou-Chang, Yeh, Jiann-Horng, Chen, Ya Hui, Lee, Mei Fen, Lee, Yi-Chung, Lai, Kuan Lin, Beydoun, Said, Akhter, Salma, Vu, Tuan, Lam, Lucy, Thomas, Alisha, Rivner, Michael, Quarles, Brandy, Lange, Dale, Holzberg, Shara, Pavlakis, Pantelis, Goutham, Ashwathy, Kaminski, Henry, Aly, Radwa, Ashworth, Lisa, Bender, Kathryn, Bond, Karie, Buckner, Joanne, Byerly, Sara, Caress, James, Clemons, Jessyca, Farmer, Asha, Franklin, Catherine, Harris, Summer, Hiatt, Meredith, Gandhi Mehta, Rachana, Miller, Gina, Smith, Lynn, Smith, Rose, Strittmatter, Brian, Mozaffar, Tahseen, Habib, Ali A, Hernandez, Isela, Moulton, Kelsey, Karam, Chafic, Ravikumar, Pranali, Lomen-Hoerth, Catherine, Rosow, Laura, George, Hannah, Irodenko, Viktoriya, Kang, Min, Denny, Carol, Hanson, Bart, Klein, Sara, Martinez-Thompson, Jennifer, Naddaf, Elie, Padgett, Denny, Sorenson, Eric, L Sultze, Jane, Weis, Delena, Rezania, Kourosh, Thonhoff, Jason, Shroff, Sheetal, Pascuzzi, Robert, Micheels, Angela, Bodkin, Cynthia, Comer, Adam, Baras, Gelasio, Wagner, Renee, Mahuwala, Zabeen, Ryan, Stephen, Su, Kai, Sharma, Khema, Brown, Andrew, Liow, Kore, Drużdż, Artur, Grosskreutz, Julian, Boehnlein, Marion, Bozorg, Ali, Gayfieva, Maryam, Greve, Bernhard, Woltering, Franz, and Kaminski, Henry J

Published
2023
Full Text
View/download PDF

5. Glucose and Lipid Metabolism Disorders in Adults with Spinal Muscular Atrophy Type 3.

Author

Miletić, Marija, Stević, Zorica, Vujović, Svetlana, Rakočević, Jelena, Tomić, Ana, Tančić Gajić, Milina, Stojanović, Miloš, Palibrk, Aleksa, and Žarković, Miloš

Subjects
LIPID metabolism disorders, SPINAL muscular atrophy, GLUCOSE metabolism disorders, GLUCOSE tolerance tests, INSULIN resistance, DYSLIPIDEMIA
Abstract

Background: Spinal muscular atrophy type 3 (juvenile SMA, Kugelberg–Welander disease) is a genetic disease caused by changes in the survival motor neuron 1 (SMN) gene. However, there is increasing evidence of metabolic abnormalities in SMA patients, such as altered fatty acid metabolism, impaired glucose tolerance, and defects in the functioning of muscle mitochondria. Given that data in the literature are scarce regarding this subject, the purpose of this study was to estimate the prevalence of glucose and lipid metabolism disorders in adult patients with SMA type 3. Methods: We conducted a cross-sectional study of 23 adult patients with SMA type 3 who underwent a comprehensive evaluation, including a physical examination, biochemical analysis, and an oral glucose tolerance test during 2020–2023. Results: At least one lipid abnormality was observed in 60.8% of patients. All four lipid parameters were atypical in 4.3% of patients, three lipid parameters were abnormal in 21.7% of patients, and two lipid parameters were altered in 8.7% patients. A total of 91.3% of SMA3 patients met the HOMA-IR criteria for insulin resistance, with 30.43% having impaired glucose tolerance. None of the patients met the criteria for a diagnosis of overt DM2. Conclusions: The prevalence of dyslipidemia and altered glucose metabolism in our study sets apart the adult population with SMA3 from the general population, confirming a significant interplay between muscle, liver, and adipose tissue. Ensuring metabolic care for aging patients with SMA 3 is crucial, as they are vulnerable to metabolic derangements and cardiovascular risks. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

13. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Author

Bril, Vera, primary, Drużdż, Artur, additional, Grosskreutz, Julian, additional, Habib, Ali A, additional, Mantegazza, Renato, additional, Sacconi, Sabrina, additional, Utsugisawa, Kimiaki, additional, Vissing, John, additional, Vu, Tuan, additional, Boehnlein, Marion, additional, Bozorg, Ali, additional, Gayfieva, Maryam, additional, Greve, Bernhard, additional, Woltering, Franz, additional, Kaminski, Henry J, additional, Genge, Angela, additional, Massie, Rami, additional, Berube, Maxime, additional, Bril, Vera, additional, Daniyal, Lubna, additional, Mannan, Shabber, additional, Ng, Eduardo, additional, Raman, Ritesh Rohan Raghu, additional, Sarpong, Evelyn, additional, Alcantara, Monica, additional, Dionne, Annie, additional, Siddiqi, Zaeem, additional, Blackmore, Derrick, additional, Hussain, Faraz, additional, Matte, Genevieve, additional, Botez, Stephan, additional, Tyblova, Michaela, additional, Jakubikova, Michala, additional, Junkerova, Jana, additional, Witting, Nanna, additional, Holm-Yildiz, Sonja, additional, Stemmerik, Mads, additional, Andersen, Henning, additional, Obál, Izabella, additional, Solé, Guilhem, additional, Mathis, Stéphane, additional, Violleau, Marie-Hélène, additional, Tranchant, Christine, additional, Messai, Sihame, additional, Chanson, Jean-Baptiste, additional, Nadaj-Pakleza, Aleksandra, additional, Verloes, Arnaud, additional, Zaidi, Leila, additional, Gambella, Manuela, additional, Cavalli, Michele, additional, Stojkovic, Tanya, additional, Demeret, Sophie, additional, Le Guennec, Loic, additional, Querin, Giorgia, additional, Weiss, Nicolas, additional, Masingue, Marion, additional, Magy, Laurent, additional, Ghorab, Karima, additional, Rukhadze, Ia, additional, Tsiskaridze, Alexander, additional, Janelidze, Marina, additional, Margania, Temur, additional, Then Bergh, Florian, additional, Hänsel, Eike, additional, Kalb, Andrea, additional, Meilick, Bianca, additional, Reuschel, Mandy, additional, Teußer, Lars-Malte, additional, Unterlauft, Astrid, additional, Goedel, Clemens, additional, Hagenacker, Tim, additional, Totzeck, Andreas, additional, Stolte, Benjamin, additional, Blaes, Franz, additional, Bindler, Christine, additional, Tsoutsikas, Vasilios, additional, Roediger, Annekathrin, additional, Geis, Christian, additional, Schmidt, Jens, additional, Zschüntzsch, Jana, additional, Schwarz, Margret, additional, Meyer, Stefanie, additional, Kummer, Karsten, additional, Glaubitz, Stefanie, additional, Zeng, Rachel, additional, Wiendl, Heinz, additional, Klotz, Luisa, additional, Lammerskitten, Anna, additional, Lünemann, Jan, additional, Diószeghy, Péter, additional, Maggi, Lorenzo, additional, Rinaldi, Elena, additional, Gastaldi, Matteo, additional, Mazzacane, Federico, additional, Businaro, Pietro, additional, Iorio, Raffaele, additional, Antonini, Giovanni, additional, Fionda, Laura, additional, Rinaldi, Rita, additional, Rossi, Simone, additional, Habetswallner, Francesco, additional, Tuccillo, Francesco, additional, Umehara, Haruna, additional, Uenaka, Eiko, additional, Takahashi, Masanori, additional, Higashi, Keiko, additional, Kinoshita, Makoto, additional, Yoneda, Emika, additional, Nakamura, Noriko, additional, Fujita, Saeka, additional, Kubota, Tomoya, additional, Ono, Masami, additional, Yamamoto, Sana, additional, Hatano, Taku, additional, Oikoshi, Kazuki, additional, Yokoyama, Kazumasa, additional, Oji, Yutaka, additional, Tomizawa, Yuji, additional, Uzawa, Akiyuki, additional, Yasuda, Manato, additional, Akita, Sachiko, additional, Ozawa, Yukiko, additional, Onishi, Yosuke, additional, Takaki, Miki, additional, Yamada, Hiromi, additional, Minemoto, Kanako, additional, Sanko, Miki, additional, Izawa, Nanae, additional, Nakayama, Mayumi, additional, Masuda, Masayuki, additional, Tsuji, Rune, additional, Ido, Nobuhiro, additional, Hyodo, Yumi, additional, Okubo, Yoshihiko, additional, Minohara, Akiko, additional, Haraguchi, Nana, additional, Naito, Makiko, additional, Yoshida, Seiko, additional, Fukushige, Yuri, additional, Tsujino, Akira, additional, Nagaoka, Atsushi, additional, Miyazaki, Teiichiro, additional, Yoshimura, Shunsuke, additional, Hirayama, Takuro, additional, Shima, Tomoaki, additional, Okamoto, Naoko, additional, Matsumoto, Riki, additional, Sekiguchi, Kenji, additional, Ueda, Takehiro, additional, Chihara, Norio, additional, Kirimura, Mari, additional, Sunagawa, Emi, additional, Suzuki, Ayaka, additional, Suzuki, Shigeaki, additional, Wada, Aozora, additional, Ishizuchi, Kei, additional, Suzuki, Yasushi, additional, Yata, Mitsuo, additional, Komatsu, Yuka, additional, Tsukita, Kenichi, additional, Watanabe, Genya, additional, Sato, Kazuki, additional, Kawasaki, Emiko, additional, Yamamoto, Naoki, additional, Ono, Hirohiko, additional, Tsuda, Tomoko, additional, Ohashi, Shigeki, additional, Fujisawa, Yuka, additional, Yokota, Yumiko, additional, Nagane, Yuriko, additional, Ayumi, Kameda, additional, Takematsu, Yuka, additional, Naito, Hiroyuki, additional, Kuwada, Kumiko, additional, Rejdak, Konrad, additional, Szklener, Sebastian, additional, Kitowska, Monika, additional, Derkacz, Kandyda, additional, Berkowicz, Tomasz, additional, Budzinska, Paulina, additional, Halas, Marek, additional, Zaslavskiy, Leonid, additional, Skornyakova, Evgeniya, additional, Kotov, Sergey, additional, Novikova, Ekaterina, additional, Sidorova, Olga, additional, Goldobin, Vitalii, additional, Alekseeva, Tatiana, additional, Isabekova, Patimat, additional, Malkova, Nadezhda, additional, Korobko, Denis, additional, Djordjevic, Gordana, additional, Stojanov, Aleksandar, additional, Peric, Stojan, additional, Lavrnic, Dragana, additional, Bozovic, Ivo, additional, Palibrk, Aleksa, additional, Casasnovas, Carlos, additional, Nedkova-Hristova, Velina, additional, Vidal Fernández, Nuria, additional, Cortés Vicente, Elena, additional, Querol Gutiérrez, Luis, additional, Salvadó Figueras, Maria, additional, Canovas Segura, Anna, additional, Juntas Morales, Raúl, additional, Sanchez Tejerina, Daniel, additional, Saiz, Albert, additional, Blanco Morgado, Yolanda, additional, Llufriú Durán, Sara, additional, Sepúlveda Gázquez, María, additional, Martínez Hernández, Eugenia María, additional, Gutiérrez Gutiérrez, Gerardo, additional, Iniesta, Paqui, additional, Meca Lallana, José, additional, Guo, Yuh-Cherng, additional, Chiu, Hou-Chang, additional, Yeh, Jiann-Horng, additional, Chen, Ya Hui, additional, Lee, Mei Fen, additional, Lee, Yi-Chung, additional, Lai, Kuan Lin, additional, Beydoun, Said, additional, Akhter, Salma, additional, Lam, Lucy, additional, Thomas, Alisha, additional, Rivner, Michael, additional, Quarles, Brandy, additional, Lange, Dale, additional, Holzberg, Shara, additional, Pavlakis, Pantelis, additional, Goutham, Ashwathy, additional, Kaminski, Henry, additional, Aly, Radwa, additional, Ashworth, Lisa, additional, Bender, Kathryn, additional, Bond, Karie, additional, Buckner, Joanne, additional, Byerly, Sara, additional, Caress, James, additional, Clemons, Jessyca, additional, Farmer, Asha, additional, Franklin, Catherine, additional, Harris, Summer, additional, Hiatt, Meredith, additional, Gandhi Mehta, Rachana, additional, Miller, Gina, additional, Smith, Lynn, additional, Smith, Rose, additional, Strittmatter, Brian, additional, Mozaffar, Tahseen, additional, Hernandez, Isela, additional, Moulton, Kelsey, additional, Karam, Chafic, additional, Ravikumar, Pranali, additional, Lomen-Hoerth, Catherine, additional, Rosow, Laura, additional, George, Hannah, additional, Irodenko, Viktoriya, additional, Denny, Carol, additional, Hanson, Bart, additional, Klein, Sara, additional, Martinez-Thompson, Jennifer, additional, Naddaf, Elie, additional, Padgett, Denny, additional, Sorenson, Eric, additional, L Sultze, Jane, additional, Weis, Delena, additional, Rezania, Kourosh, additional, Thonhoff, Jason, additional, Shroff, Sheetal, additional, Pascuzzi, Robert, additional, Micheels, Angela, additional, Bodkin, Cynthia, additional, Comer, Adam, additional, Baras, Gelasio, additional, Wagner, Renee, additional, Mahuwala, Zabeen, additional, Ryan, Stephen, additional, Su, Kai, additional, Sharma, Khema, additional, Brown, Andrew, additional, and Liow, Kore, additional

Published
2023
Full Text
View/download PDF

14. Erythrocyte fatty acid aberrations in Amyotrophic Lateral Sclerosis: Correlation with disease duration

Author

Minić, Rajna, Arsić, Aleksandra, Kojadinović, Milica, Palibrk, Aleksa, Đorđević, Brižita, Stević, Zorica, Minić, Rajna, Arsić, Aleksandra, Kojadinović, Milica, Palibrk, Aleksa, Đorđević, Brižita, and Stević, Zorica

Abstract

Background: Recent literature data highlights metabolic changes in amyotrophic lateral sclerosis (ALS). To explore possible early metabolic changes, we aimed to analyse the fatty acids (FA) composition of erythrocytes in newly diagnosed als patients and to see whether fatty acid levels correlate with the ALSFRS-R score or disease duration. Methods: The severity of motor function involvement was assessed by the ALSFRS-R scale at the initial evaluation. The fatty acid profile of erythrocyte membranes was analysed by gas-liquid chromatography. The study comprised 26 clinically diagnosed als patients, with mean ALSFRS-R 38±8. The control group included 26 healthy volunteers. Results: Significantly higher levels of palmitic acid and total saturated FAs were detected in als patients. In als patients, total monounsaturated FA, palmitoleic, vaccenic, and oleic acid were also significantly increased. The levels of eicosapentaenoic acid, docosapentaenoic acid, total polyunsaturated FA (PUFA) and n-6 PUFA were significantly lower in als patients. Additionally, a-linolenic acid, the precursor of the n-3 PUFA family, was not detected in als patients. We found no significant correlation between the ALSFRS-R score and the abundance of individual FAs analysed. A moderate negative correlation was found between disease duration and DHA level, and a positive correlation was detected with MUFA. Conclusion: Experimental evidence presented may contribute to shaping a beneficial nutritional intervention.

Published
2023

15. Galactosylation of serum immunoglobulin G in myasthenia gravis with different autoantibodies.

Author

Hajdukovic, Ljiljana, Palibrk, Aleksa, Peric, Stojan, Basta, Ivana, Minic, Rajna, Jankovic, Miroslava, and Lavrnic, Dragana

Subjects
*IMMUNOGLOBULIN G, *MYASTHENIA gravis, *AUTOANTIBODIES, *CHOLINERGIC receptors, *PROTEIN-tyrosine kinases, *MYONEURAL junction, *LECTINS
Abstract

Myasthenia gravis (MG) is a disease with impaired transmission at the neuromuscular junction, characterised by weakness and fatigability of skeletal muscles. In acquired autoimmune MG, antibodies against acetylcholine receptor (AChRAb) or muscle-specific tyrosine kinase (MuSKAb) are present. There is not much data about immunoglobulin G (IgG) galactosylation in MG, and none based on interactions with lectins. This study aims to examine IgG galactosylation in two types of myasthenia, using affinity immunoelectrophoresis with lectin concanavalin A (Con A). Affinity of Con A–IgG interaction, expressed as retardation coefficient (R), indicated the presence of degalactosylated IgG. The average R values were significantly different between three examined groups, being the lowest in controls (healthy subjects), higher in acetylcholine receptor (AChR) MG, and the highest in muscle-specific tyrosine kinase (MuSK) MG (ANOVA, p <.05). This indicated decreased galactosylation of IgG in both types of MG compared to controls, more pronounced in MuSK MG. IgG galactosylation was also investigated in relation to the disease severity score, determined according to the Myasthenia Gravis Foundation of America (MGFA) criteria, at the time of diagnosis, nadir of the disease and last check-out visit. The average R values for mild disease (stages I–IIIa) were significantly lower than for severe disease (stages IIIb–V), both at the time of diagnosis (p <.05), and at the nadir of the disease (p <.05). Thus, IgG galactosylation was associated with the presence of specific autoantibodies in MG, as well as with disease severity for both types of MG, and may be a predictive marker of MG outcome. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

17. C9orf72 GENETIC SCREENING IN AMYOTROPHIC LATERAL SCLEROSIS PATIENTS FROM SERBIA.

Author

MARJANOVIC, Ana, PALIBRK, Aleksa, DOBRICIC, Valerija, MILICEVIC, Ognjen, BRANKOVIC, Marija, VIRIC, Vanja, DRINIC, Aleksandra, MANDIC STOJMENOVIC, Gorana, JANKOVIC, Milena, BASTA, Ivana, PERIC, Stojan, NOVAKOVIC, Ivana, STEFANOVA, Elka, and STEVIC, Zorica

Subjects
*AMYOTROPHIC lateral sclerosis, *GENETIC testing, *MOTOR neuron diseases, *SOUTHERN blot, *FRONTOTEMPORAL dementia, *AGE of onset, *PATIENTS
Abstract

Hexanucleotide repeats expansion in the C9orf72 gene is the most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) cases in Europe. In this study we aimed to determine the size and distribution of C9orf72 alleles, and investigate the possible association of the repeat size with several clinical parameters in ALS patients from Serbia. Patients were recruited from 2011-2021 and analysed using fragment length analysis and Southern blot. Out of 383 ALS patients, we have detected 31 (8.09%) patients with repeat expansion. In the total ALS cohort, clinical overlap with frontotemporal dementia (FTD) was registered in 17 (4.44%) patients, and among them, 5 (29.41%) were expansion carriers. There was no difference in the age of onset, age at the examination or disease duration, gender, and the frequency of spinal and bulbar onset between patients with and without C9orf72 expansion. The presence of positive family history (34.48% vs. 15.65%) and FTD (16.13% vs. 3.41%) was more frequent in expansion-positive vs. expansion-negative patients. In expansion-positive patients, significantly higher values of the largest detected repeat were found in patients with ALS in the family, and in expansion-negative, a higher median value of the smaller allele was noted in patients with a positive family history of ALS, dementia, and both in comparison to the rest of the group. A correlation of the repeat size was not found with the age of onset in both patients with and without the expansion. This is the first detailed study of C9orf72 sizing in ALS patients from Serbia. Our results emphasize the need for C9orf72 genetic screening in ALS patients with/without FTD. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

20. Antecedent infections and vaccinations in chronic inflammatory demyelinating polyneuropathy:a European collaborative study

Author

Rajabally, Yusuf A., Peric, Stojan, Bozovic, Ivo, Loo, Lay Khoon, Kalac, Aida, Palibrk, Aleksa, Basta, Ivana, Rajabally, Yusuf A., Peric, Stojan, Bozovic, Ivo, Loo, Lay Khoon, Kalac, Aida, Palibrk, Aleksa, and Basta, Ivana

Abstract

Introduction/Aims: Chronic inflammatory demyelinating polyneuropathy (CIDP) may be rarely preceded by infection. A causative link remains unproven, in contrast to Guillain-Barré syndrome (GBS), which is commonly postinfectious with well-demonstrated pathophysiological mechanisms of molecular mimicry following Campylobacter jejuni enteritis. Uncommonly, infections are reported before the onset of CIDP. In this study we aimed to determine the frequency and characteristics of CIDP occurring after antecedent infections or vaccinations in two large European cohorts. Methods: We reviewed the records of 268 subjects with “definite” or “probable” CIDP from the Inflammatory Neuropathy Clinic, Birmingham, UK (129 subjects), and from the Serbian national CIDP database (139 subjects). Results: Twenty-five of 268 (9.3%) subjects had a respiratory or gastrointestinal infection in the 6 weeks preceding CIDP onset, and 3 of 268 (1.1%) had received an influenza vaccination. CIDP disease onset occurred at a younger age (mean [standard deviation], 44.25 [17.36] years vs 54.05 [15.19] years; P <.005) and acute-onset CIDP was more common (42.9% vs 12.1%; odds ratio, 5.46; 95% confidence interval, 2.35-12.68; P <.001) in subjects with preceding infections or vaccinations. No differences in CIDP subtype, rates of cerebrospinal fluid protein level elevation, disability, or likelihood of treatment response, were observed. Discussion: Antecedent infections or vaccinations may precede about 10% of cases of CIDP and are more common in younger subjects. Acute-onset CIDP is more frequent after antecedent events. These findings may suggest specific pathophysiological mechanisms in such cases.

Published
2021

21. Psychometric longitudinal evaluation of the Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) in patients with chronic inflammatory demyelinating polyneuropathy

Author

Ted M. Burns, Stojan Peric, Reza Sadjadi, Kelly G. Gwathmey, Ivo Bozovic, Palibrk Aleksa, Bogdan Bjelica, and Ivana Basta

Subjects
0301 basic medicine, Adult, Male, Longitudinal study, medicine.medical_specialty, Psychometrics, Physiology, Chronic inflammatory demyelinating polyneuropathy, 030105 genetics & heredity, Severity of Illness Index, 03 medical and health sciences, Cellular and Molecular Neuroscience, Polyneuropathies, 0302 clinical medicine, Physiology (medical), Internal medicine, medicine, Humans, In patient, Longitudinal Studies, Patient Reported Outcome Measures, Aged, business.industry, Acquired polyneuropathy, Significant difference, Middle Aged, medicine.disease, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Quality of Life, Female, Neurology (clinical), Inflammatory neuropathy, business, Polyneuropathy, 030217 neurology & neurosurgery
Abstract

BACKGROUND We studied the performance of a 15-item, health-related quality-of-life polyneuropathy scale in a longitudinal study of patients with chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS Sixty-one patients with CIDP completed the Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) scale and Patient Impression of Change (PIC) at baseline and follow-up visits. Clinicians completed Inflammatory Neuropathy Cause and Treatment (INCAT) disability scores at baseline and follow-up visits. Conventional and modern psychometric analyses were performed on the completed forms. RESULTS CAPPRI was psychometrically stable between visits without significant difference in response pattern between visits 1 and 2 (paired t-test P = .72). There was strong correlation between changes in INCAT and changes in CAPPRI scores between two visits (rho = 0.6, P

Published
2020

26. Secondary findings in 443 exome sequencing data.

Author

Branković, Marija, Han, Heonjong, Janković, Milena, Marjanović, Ana, Andrejic, Nikola, Gunjić, Ilija, Virić, Vanja, Palibrk, Aleksa, Lee, Hane, and Peric, Stojan

Abstract

Exome sequencing (ES) may identify and report secondary findings that are unrelated to the primary disease for which the patient underwent genetic testing, but are of potential value in patient care.In this study, we evaluated 81 American College of Medical Genetics (ACMG) medically actionable genes in 443 patients with various neurological disorders. The variants identified were classified and reported following the 2015 ACMG Standards and Guidelines for the interpretation of sequence variants and the ACMG recommendations for reporting secondary findings (v3.2).We detected a total of 17 variants in 17 patients across 9 different genes as secondary findings. Seven heterozygous variants were found in BRCA1, MSH2, and PALB2 which are part of the cancer phenotype category. Nine heterozygous variants were found in MYH7, TTN, LDLR, DSC2, and DSP which are part of the cardiovascular phenotype category. Finally, one heterozygous variant was found in TTR which is part of the miscellaneous phenotype category. Thirteen of above mentioned variants were classified as known pathogenic and four as expected pathogenic.The information collected in our study may lead to the prevention of severe morbidity and mortality and provides additional insight into the genetic background of the Serbian population. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results