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1. Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications

Author

Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan Żurek, Weronika Talaśka-Liczbik, and Maria Mazurkiewicz-Bełdzińska

Subjects
epilepsy, genetics, next-generation sequencing, monogenic epilepsy, developmental and epileptic encephalopathy, neurodevelopmental disorder, Genetics, QH426-470
Abstract

Introduction: Epilepsy is one of the commonest diseases in children, characterized by extensive phenotypic and genetic heterogeneity. This study was conducted to determine the diagnostic utility and to identify novel clinical and therapeutic implications of genetic testing in pediatric patients with epilepsy.Methods: Large multigene panel and/or exome sequencing was performed in 127 unrelated Polish and Ukrainian patients with suspected monogenic epilepsy. Diagnostic yields were presented for five phenotypic subgroups, distinguished by seizure type, electroencephalographic abnormalities, anti-seizure treatment response, and neurodevelopmental deficits.Results: A definite molecular diagnosis was established in 46 out of 127 cases (36%). Alterations in six genes were detected in more than one patient: SCN1A, MECP2, KCNT1, KCNA2, PCDH19, SLC6A1, STXBP1, and TPP1, accounting for 48% of positive cases. 4/46 cases (8.7%) were mosaic for the variant. Although the highest rates of positive diagnoses were identified in children with developmental delay and generalized seizures (17/41, 41%) and in developmental end epileptic encephalopathies (16/40, 40%), a monogenic etiology was also frequently detected in patients with solely focal seizures (10/28, 36%). Molecular diagnosis directly influenced anti-seizure management in 15/46 cases.Conclusion: This study demonstrates the high diagnostic and therapeutic utility of large panel testing in childhood epilepsies irrespective of seizure types. Copy number variations and somatic mosaic variants are important disease-causing factors, pointing the need for comprehensive genetic testing in all unexplained cases. Pleiotropy is a common phenomenon contributing to the growing phenotypic complexity of single-gene epilepsies.

Published
2024
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2. The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy

Author

Andras, Fogarasi, Elisa, Fazzi, Ana R P, Smorenburg, Maria, Mazurkiewicz-Beldzinska, Argirios, Dinopoulos, Alena, Pobiecka, Dea, Schröder-van den Nieuwendijk, Josef, Kraus, Hasan, Tekgül, Maria, Koutsaki, Giovanni, Baranello, Simona, Bertoli, Elisa, Caramaschi, Duccio Maria, Cordelli, Ramona, De Amicis, Maria Luisa, Forchielli, Azzurra, Guerra, Althea, Lividini, Maddalena, Marchiò, Andrea, Rossi, Dea Schröder-van den, Nieuwendijk, Jędrzej, Fliciński, Barbara, Gurda, Anna, Lemska, Agnieszka, Matheisel, Zuzanna, Niwinska, Małgorzata, Pawłowicz, Agnieszka, Sawicka, Barbara, Steinborn, Marta, Szmuda, Anna, Winczewska-Wiktor, Marta, Zawadzka, Ebru, Arhan, Kursad, Aydin, Erhan, Bayram, Kursat Bora, Carman, Pinar, Edem, Deniz, Ertem, Özben Akıncı, Goktas, Serdal, Gungor, Goknur, Haliloglu, Aydan, Kansu, Mustafa, Kömür, Akmer, Mutlu, Ceyda Tuna, Kırsaçlıoğlu, Çetin, Okuyaz, Bilge, Özgör, Yesim, Ozturk, Safiye Gunes, Sager, Esra, Sarıgeçili, Mukadder Ayse, Selimoglu, Hepsen Mine Öztürk, Serin, Serap Tıraş, Teber, Gülten, Thomas, Dilsad, Turkdogan, Burcu, Volkan, Coşkun, Yarar, Sanem Keskin, Yilmaz, Fogarasi A., Fazzi E., Smorenburg A.R.P., Mazurkiewicz-Beldzinska M., Dinopoulos A., Pobiecka A., Schroder-van den Nieuwendijk D., Kraus J., Tekgul H, and the PUrple study group Giovanni Baranello, Simona Bertoli, Elisa Caramaschi, Duccio Maria Cordelli, Ramona De Amici, Maria Luisa Forchielli, Azzurra Guerra, Althea Lividini, Maddalena Marchi, Andrea Rossi, Dea Schr€oder-van den Nieuwendijk, JeR drzej Flicinsk, Barbara Gurda, Anna Lemska, Agnieszka Matheisel, Maria Mazurkiewicz-Beldzinska, Zuzanna Niwinska, Małgorzata Pawłowicz, Agnieszka Sawicka, Barbara Steinborn, Marta Szmuda, Anna Winczewska-Wiktor, Marta Zawadzka: Alena Pobiecka, Ebru Arhan, Erhan Bayram, Eskis ehir Osmangazi, Pinar Edem, Deniz Ertem, €Ozben Akı ncı Gokta, Serdal Gungor, Goknur Haliloglu, Aydan Kansu, Mustafa K€om€ur, Akmer Mutlu, Ceyda Tuna Kırsac lıoglu, Cetin Okuyaz, Bilge €Ozg€or, Yesim Ozturk, Safiye Gunes Sagel, Esra Sarıgec ili, Mukadder Ayse Selimoglu, Hepsen Mine €Ozt€urk, Serap Tı ras Teber, Hasan Tekg€ul, G€ulten Thoma, Dilsad Turkdogan, Burcu Volkan, Coskun Yarar, and Sanem Keskin Yilmaz.

Subjects
Gerontology, Body-Composition, System, Referral, genetic structures, Adolescent, Physical-Activity, Cerebral palsy, concerns, feeding, nutrition, perceived nutritional status, medicine.medical_treatment, Nutritional Status, Growth, Continuous variable, Gross Motor Function, Surveys and Questionnaires, medicine, Humans, Child, Ability, Rehabilitation, business.industry, Malnutrition, People, Gross Motor Function Classification System, Nutritional status, Anthropometry, medicine.disease, Reliability, Preschool-Aged Children, Clinical trial, Caregivers, concern, business, Classify
Abstract

Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers. Materials and methods: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted). HCP and caregiver perceptions of the child's nutritional status as well as agreement between perceived and objective nutritional status and agreement between perceived nutritional status and concerns about the nutritional status were analyzed. Results: Data were available for 497 participants from eight European countries. Poorer nutritional status was associated with higher (more severe) GMFCS levels. There was minimal agreement between perceived and objective nutritional status, both for HCPs and caregivers. Agreement between HCP and caregiver perceptions of the child's nutritional status was weak (weighted kappa 0.56). However, the concerns about the nutritional status of the child were in line with the perceived nutritional status. Conclusions: The risk of poor nutritional status is associated with more severe disability in children and adolescents with CP. There is a mismatch between HCP and caregiver perceptions of participants' nutritional status as well as between subjective and objective nutritional status. Our data warrant the use of a simple and objective screening tool in daily practice to determine nutritional status in children and adolescents with CP., Danone Nutricia Research, Utrecht, the Netherlands; Nutricia Advanced Medical Nutrition in Czech Republic; Nutricia Advanced Medical Nutrition in Greece; Nutricia Advanced Medical Nutrition in Hungary; Nutricia Advanced Medical Nutrition in Italy; Nutricia Advanced Medical Nutrition in Poland; Nutricia Advanced Medical Nutrition in Slovakia; Nutricia Advanced Medical Nutrition in The Netherlands; Nutricia Advanced Medical Nutrition in Turkey; Danone Nutricia Research, This study was sponsored by Danone Nutricia Research, Utrecht, the Netherlands. Local financial support was provided by the local business units of Nutricia Advanced Medical Nutrition in Czech Republic, Greece, Hungary, Italy, Poland, Slovakia, The Netherlands, and Turkey. Medical writing support was provided by Tim Kelly, Medi-Kelsey Limited, funded by Danone Nutricia Research.

Published
2022

3. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W Day, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Aurore Daron, Stéphanie Delstanche, Romain Bruninx, Fabian Dal Farra, Olivier Schneider, Irina Balikova, Patricia Delbeke, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Ingele Casteels, Liesbeth De Waele, Catherine Cassiman, Lies Prové, David Kinoo, Lisa Vancampenhout, Marleen Van Den Hauwe, Annelies Van Impe, Alexandra Prufer de Queiroz Campos Araujo, Aline Chacon Pereira, Flávia Nardes, Lorena Haefeli, Julia Rossetto, Marcos Ferreira Rebel, Jaqueline Almeida Pereira, Craig Campbell, Sapna Sharan, Wendy McDonald, Cheryl Scholtes, Jean Mah, Maria Sframeli, Angela Chiu, Jane Hagel, Raquel Beneish, Gaela Cariou-Palmer, Connie Pham, Daniela Toffoli, Stephanie Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huan, Chen Qian, Li Shen, Ying Xiao, Zhenxuan Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Hui Dong, Ying Liu, Tian Sang, Cuijie Wei, Jing Wen, Yiwen Cao, Xingyao Ly, Jingjing Zhao, Wenzhu Li, Lun Qin, Nina Barisic, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Teresa Gidaro, Andreea Seferian, Silvana De Lucia, Emmanuel Barreau, Nabila Mnafek, Marta Milkova Momtchilova, Helene Peche, Carole Valherie, Allison Grange, Charlotte Lilien, Darko Milascevic, Shotaro Tachibana, Claudia Ravelli, Ruxandra Cardas, Jessica Taytard, Guillaume Aubertin, Laure Vanden Brande, Jean-Baptiste Davion, Stephanie Coopman, Ikram Bouacha, Philippe Debruyne, Sabine Defoort, Gilles Derlyn, Florian Leroy, Loïc Danjoux, Julie Guilbaud, Isabelle Desguerre, Christine Barnérias, Michaela Semeraro, Dominique Bremond-Gignac, Lenaic Bruere, Maxence Rateaux, Élodie Deladrière, Virginie Germa, Yann Pereon, Sandra Mercie, Fanny Billaud, Lucie Le Goff, Guy Letellier, Aurélie Portefaix, Camille De-Montferrand, Laure Le-Goff, Stephanie Fontaine, Manel Saidi, Nabil Bouzid, Aurélie Barriere, Marie Tinat, Michelle Dreesbach, Wolf Lagréze, Bettina Michaelis, Fanni Molnar, Dorina Seger, Sibylle Vogt, Enrico Bertini, Adele D'Amico, Sergio Petroni, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Enrico Priolo, Giuseppe Rao, Simone Morando, Paola Tacchetti, Ambra Zuffi, Giacomo Pietro Comi, Roberta Brusa, Stefania Corti, Velardo Daniele, Alessandra Govoni, Francesca Magri, Valeria Minorini, Silvia Gabriella Osnaghi, Francesca Abbati, Federica Fassini, Michaela Foa, Amaqlia Lopopolo, Megi Meneri, Francesca Zoppas, Valeria Parente, Riccardo Masson, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Riccardo Zanin, Laura Antonaci, Roberto de Sanctis, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Gugliemo D'Amico, Lorenzo Orazi, Giorgia Coratti, Kazuhiro Haginoya, Atsuko Kato, Yuko Morishita, Ryutaro Kira, Kiyomu Akiyama, Miwako Goto, Yujiro Mori, Misato Okamoto, Saki Tsutsui, Yuta Takatsuji, Aya Tanaka, Hirofumi Komaki, Miina Omori, Ippei Suzuki, Mizuki Takeuchi, Daisuke Todoroki, Seji Watanabe, Tomoko Matsubayashi, Emi Inakazu, Hiroe Nagura, Akira Suzuki, Manami Usui, Nobutsune Ishikawa, Yousuke Harada, Kenishi Fudeyasu, Kazuhiko Hirata, Kana Michiue, Kazuyuki Ueda, Junko Fujitani, Reiko Arakawa, Kozue Takano, Shigeko Yashiro, Maiko Seki, Nozomi Sano, Koji Fukuyama, Yuki Matsumoto, Hirofumi Miyazaki, Minoru Shibata, Kyoko Kobayashi, Yukie Nakamura, Yasuhiro Takeshima, Moe Kuma, Anna Fraczek, Maria Jedrzejowska, Anna Lusakowska, Agnieszka Czeszyk-Piotrowicz, Wojciech Hautz, Klaudia Rakusiewicz, Malgorzata Burlewicz, Zuzanna Gierlak-Wojcicka, Malwina Kepa, Adam Sikorski, Marcin Sobieraj, Maria Mazurkiewicz-Beldzinska, Anna Lemska, Sandra Modrzejewska, Mateusz Koberda, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Barbara Steinborn, Magdalena Dalz, Julia Grabowska, Wojciech Hajduk, Justyna Janasiewicz-Karachitos, Monika Klimas, Marcin Stopa, Ewa Gajewska, Beata Pusz, Dmitry Vlodavets, Evgenia Melnik, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Vedrana Milic Rasic, Vesna Brankovic, Ana Kosac, Olivera Djokic, Vesna Jakšic, Ana Pepic, Jelena Martinovic, Francina Munell Casadesus, Eduardo Tizzano, Nieves Martín Begué, Charlotte Wolley Dod, Olaia Subira, Bernat Planas Pascual, Esther Toro Tamargo, Marcos Madruga Garrido, José David Medina Romero, Marta Peña Salinas, Andrés Nascimento Osorio, Ana Díaz Cortés, Enrique Jiménez Gañan, Simone Dowon Suh, Julita Medina Cantillo, Obdulia Moya, Nuria Padros, Sandra Roca Urraca, Hugo Gonzalez Valdivia, Samuel Pascual Pascual, Sofía de Manuel, Susana Noval Martin, Paul Burnham, Sandra Espinosa, Mercedes Martinez Moreno, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugru, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Neslihan Bilgin, Seher Sari, Claudia Chiriboga, John J. Lee, Donnielle Rome-Martin, John W. Day, Shannon Beres, Tina Duong, Richard Gee, Sally Dunaway Young, Sabine Fuerst-Recktenwald, Anne Marquet, Nicoletta Muelhardt, and Dylan Trundell

Subjects
Adult, Risdiplam, spinal muscular atrophy, Adolescent, Spinal Muscular Atrophies of Childhood, Settore MED/26 - NEUROLOGIA, Young Adult, Pyrimidines, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Child, Preschool, Humans, Neurology (clinical), Child, Preschool, Azo Compounds, Aged
Abstract

BACKGROUND: Risdiplam is an oral small molecule approved for the treatment of patients with spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal muscular atrophy granted on the basis of unpublished data. The drug modifies pre-mRNA splicing of the SMN2 gene to increase production of functional SMN. We aimed to investigate the safety and efficacy of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. METHODS: In this phase 3, randomised, double-blind, placebo-controlled study, patients aged 2-25 years with confirmed 5q autosomal recessive type 2 or type 3 spinal muscular atrophy were recruited from 42 hospitals in 14 countries across Europe, North America, South America, and Asia. Participants were eligible if they were non-ambulant, could sit independently, and had a score of at least 2 in entry item A of the Revised Upper Limb Module. Patients were stratified by age and randomly assigned (2:1) to receive either daily oral risdiplam, at a dose of 5·00 mg (for individuals weighing =20 kg) or 0·25 mg/kg (for individuals weighing

Published
2022

4. Peri-ictal headaches in the paediatric population – prospective study

Author

Anna Lemska, Agnieszka Matheisel, Seweryna Konieczna, Marta Szmuda, Ewa Pilarska, Maria Mazurkiewicz-Bełdzińska, Marta Zawadzka, and Sandra Modrzejewska

Subjects
Male, Pediatrics, medicine.medical_specialty, Adolescent, Peri, Adult population, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, Prevalence, medicine, Humans, Ictal, Prospective Studies, 030212 general & internal medicine, Child, Prospective cohort study, business.industry, Headache, Electroencephalography, General Medicine, medicine.disease, nervous system diseases, nervous system, Female, Neurology (clinical), Headaches, medicine.symptom, business, 030217 neurology & neurosurgery, Paediatric population
Abstract

Introduction The co-occurrence of headache and epilepsy is well-documented in the adult population. The aim of the prospective study was to analyse in the paediatric population the correlations between the types of peri-ictal headaches and types of seizures. Furthermore, an attempt was made to find trends in characteristic features of peri-ictal headaches. Material: A total of 57 children with peri-ictal headache were enrolled in the study. The participants’ guardians were asked to keep a diary of the seizure and peri-ictal headache episodes during a 180-day period. During follow-up visits, systematic history regarding peri-ictal headaches was taken. Results A total of 913 seizure and 325 peri-ictal headache episodes were noted during the study. Post-ictal headaches were most common, occurring in Conclusion Peri-ictal headaches are a significant health problem for patients with epilepsy. The most common type are post-ictal headaches, and they are most likely to appear after a generalised seizure.

Published
2020

5. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose, Laurent Servais, Hui Xiong, Edmar Zanoteli, Giovanni Baranello, Claudio Bruno, John W Day, Nicolas Deconinck, Andrea Klein, Eugenio Mercuri, Dmitry Vlodavets, Yi Wang, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Birgit Jaber, Heidemarie Kletzl, Eleni Gaki, Paulo Fontoura, Basil T Darras, Joseph J Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Marianne Gerber, Omar Khwaja, Renata S Scalco, Timothy Seabrook, Armin Koch, Irina Balikova, Inge Joniau, Geraldine Accou, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide Machado, Maria Kiyoko Oyamada, Joyce Martini, Graziela Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Chaoping Hu, Xiaomei Zhu, Chen Qian, Li Shen, Hui Li, Yiyun Shi, Shuizhen Zhou, Ying Xiao, Zhenxuan Zhou, Sujuan Wang, Tian Sang, Cuijie Wei, Hui Dong, Yiwen Cao, Jing Wen, Wenzhu Li, Lun Qin, Nina Barisic, Ivan Celovec, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Josipa Tomas, Odile Boespflug-Tanguy, Silvana De Lucia, Andrea Seferian, Emmanuel Barreau, Nabila Mnafek, Helene Peche, Allison Grange, Diem Trang Nguyen, Darko Milascevic, Shotaro Tachibana, Emanuela Pagliano, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Claudia Dosi, Riccardo Zanin, Veronica Schembri, Noemi Brolatti, Giuseppe Rao, Elisa Tassara, Simone Morando, Paola Tacchetti, Marina Pedemonte, Enrico Priolo, Lorenza Sposetti, Giacomo Pietro Comi, Alessandra Govoni, Silvia Gabriella Osnaghi, Valeria Minorini, Francesca Abbati, Federica Fassini, Michaela Foa, Amalia Lopopolo, Marika Pane, Concetta Palermo, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Guglielmo D'Amico, Lorenzo Orazi, Giorgia Coratti, Daniela Leone, Antonaci Laura, Roberto De Sanctis, Beatrice Berti, Naoki Kimura, Yasuhiro Takeshima, Hideki Shimomura, Tomoko Lee, Fumi Gomi, Takanobu Morimatsu, Toru Furukawa, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Sandra Modrzejewska, Anna Lemska, Evgenia Melnik, Svetlana Artemyeva, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Elena Litvinova, Cornelia Enzmann, Elea Galiart, Konstantin Gugleta, Christine Wondrusch Haschke, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugrul, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Seher Sari, Neslihan Bilgin, Aynur Ayse Karaduman, Fatma Gokcem Yildiz Sarikaya, Robert J Graham, Partha Ghosh, David Casavant, Alexis Levine, Rachael Titus, Amanda Engelbrekt, Lucia Ambrosio, Anne Fulton, Anna Maria Baglieri, Courtney Dias, Elizabeth Maczek, Amy Pasternak, Shannon Beres, Tina Duong, Richard Gee, Sally Young, Masson, R., Mazurkiewicz-Beldzinska, M., Rose, K., Servais, L., Xiong, H., Zanoteli, E., Baranello, G., Bruno, C., Day, J. W., Deconinck, N., Klein, A., Mercuri, E., Vlodavets, D., Wang, Y., Dodman, A., El-Khairi, M., Gorni, K., Jaber, B., Kletzl, H., Gaki, E., Fontoura, P., Darras, B. T., Volpe, J. J., Posner, J., Kellner, U., Quinlivan, R., Gerber, M., Khwaja, O., Scalco, R. S., Seabrook, T., Koch, A., Balikova, I., Joniau, I., Accou, G., Tahon, V., Wittevrongel, S., De Vos, E., de Holanda Mendonca, R., Matsui Jr, C., Fornazieri Darcie, A. L., Machado, C., Kiyoko Oyamada, M., Martini, J., Polido, G., Rodrigues Iannicelli, J., Caires de Oliveira Achili Ferreira, J., Hu, C., Zhu, X., Qian, C., Shen, L., Li, H., Shi, Y., Zhou, S., Xiao, Y., Zhou, Z., Wang, S., Sang, T., Wei, C., Dong, H., Cao, Y., Wen, J., Li, W., Qin, L., Barisic, N., Celovec, I., Galiot Delic, M., Ivkic, P. K., Vukojevic, N., Kern, I., Najdanovic, B., Skugor, M., Tomas, J., Boespflug-Tanguy, O., De Lucia, S., Seferian, A., Barreau, E., Mnafek, N., Peche, H., Grange, A., Trang Nguyen, D., Milascevic, D., Tachibana, S., Pagliano, E., Bianchi Marzoli, S., Santarsiero, D., Garcia Sierra, M., Tremolada, G., Arnoldi, M. T., Vigano, M., Dosi, C., Zanin, R., Schembri, V., Brolatti, N., Rao, G., Tassara, E., Morando, S., Tacchetti, P., Pedemonte, M., Priolo, E., Sposetti, L., Comi, G. P., Govoni, A., Osnaghi, S. G., Minorini, V., Abbati, F., Fassini, F., Foa, M., Lopopolo, A., Pane, M., Palermo, C., Pera, M. C., Amorelli, G. M., Barresi, C., D'Amico, G., Orazi, L., Coratti, G., Leone, D., Laura, A., De Sanctis, R., Berti, B., Kimura, N., Takeshima, Y., Shimomura, H., Lee, T., Gomi, F., Morimatsu, T., Furukawa, T., Stodolska-Koberda, U., Waskowska, A., Kolendo, J., Sobierajska-Rek, A., Modrzejewska, S., Lemska, A., Melnik, E., Artemyeva, S., Leppenen, N., Yupatova, N., Monakhova, A., Papina, Y., Shidlovsckaia, O., Litvinova, E., Enzmann, C., Galiart, E., Gugleta, K., Wondrusch Haschke, C., Topaloglu, H., Oncel, I., Ertugrul, N. E., Konuskan, B., Eldem, B., Kadayifcilar, S., Alemdaroglu, I., Sari, S., Bilgin, N., Karaduman, A. A., Sarikaya, F. G. Y., Graham, R. J., Ghosh, P., Casavant, D., Levine, A., Titus, R., Engelbrekt, A., Ambrosio, L., Fulton, A., Baglieri, A. M., Dias, C., Maczek, E., Pasternak, A., Beres, S., Duong, T., Gee, R., and Young, S.

Subjects
Muscular Atrophy, Spinal, Settore MED/26 - NEUROLOGIA, Pyrimidines, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Humans, Infant, Neurology (clinical), Spinal Muscular Atrophies of Childhood, Azo Compounds, spinal muscular atrophy
Abstract

Background: Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal muscular atrophy. The FIREFISH study is investigating the safety and efficacy of risdiplam in treated infants with type 1 spinal muscular atrophy versus historical controls. The primary endpoint of part 2 of the FIREFISH study showed that infants with type 1 spinal muscular atrophy attained the ability to sit without support for at least 5 s after 12 months of treatment. Here, we report on the safety and efficacy of risdiplam in FIREFISH part 2 over 24 months of treatment. Methods: FIREFISH is an ongoing, multicentre, open-label, two-part study. In FIREFISH part 2, eligible infants (aged 1-7 months at enrolment, with a genetically confirmed diagnosis of spinal muscular atrophy, and two SMN2 gene copies) were enrolled in 14 hospitals in ten countries across Europe, North America, South America, and Asia. Risdiplam was orally administered once daily at 0·2 mg/kg for infants between 5 months and 2 years of age; once an infant reached 2 years of age, the dose was increased to 0·25 mg/kg. Infants younger than 5 months started at 0·04 mg/kg (infants between 1 month and 3 months old) or 0·08 mg/kg (infants between 3 months and 5 months old), and this starting dose was adjusted to 0·2 mg/kg once pharmacokinetic data were available for each infant. The primary and secondary endpoints included in the statistical hierarchy and assessed at month 12 have been reported previously. Here we present the remainder of the secondary efficacy endpoints that were included in the statistical hierarchy at month 24: the ability to sit without support for at least 30 s, to stand alone, and to walk alone, as assessed by the Bayley Scales of Infant and Toddler Development, third edition gross motor subscale. These three endpoints were compared with a performance criterion of 5% that was defined based on the natural history of type 1 spinal muscular atrophy; the results were considered statistically significant if the lower limit of the two-sided 90% CI was above the 5% threshold. FIREFISH is registered with ClinicalTrials.gov, NCT02913482. Recruitment is closed; the 36-month extension period of the study is ongoing. Findings: Between March 13 and Nov 19, 2018, 41 infants were enrolled in FIREFISH part 2. After 24 months of treatment, 38 infants were ongoing in the study and 18 infants (44% [90% CI 31-58]) were able to sit without support for at least 30 s (p

Published
2022

6. Symptoms of creatine deficiency syndrome. Case report

Author

Anna Lemska, Mariusz Kwarciany, Agnieszka Sawicka, Maria Mazurkiewicz-Bełdzińska, Marta Zawadzka, and Małgorzata Lemka

Subjects
Pediatrics, medicine.medical_specialty, Epilepsy, business.industry, Intellectual disability, medicine, Geology, Ocean Engineering, Creatine deficiency, business, medicine.disease, Water Science and Technology
Published
2018

7. Ictal miosis – a rare symptomatology of focal autonomic seizures

Author

Anna Lemska, Sandra Modrzejewska, Maria Mazurkiewicz-Bełdzińska, Marta Szmuda, Ewelina Trybała, Ilona Gruszczyńska, and Marta Zawadzka

Subjects
Miosis, business.industry, Focal autonomic seizures, Anesthesia, medicine, Ictal, medicine.symptom, business
Published
2019

9. Trudności diagnostyczne u dziewczynki z wieloukładową histiocytozą z komórek Langerhansa – opis przypadku

Author

Elżbieta Adamkiewicz-Drożyńska, Lucyna Maciejka-Kemblowska, Malgorzata Krawczyk, Ewa Iżycka-Świeszewska, Marek Tomaszewski, Gabrielle Karpinsky, Ninela Irga-Jaworska, Ewa Bien, and Anna Lemska

Subjects
Pathology, medicine.medical_specialty, medicine.diagnostic_test, Anemia, business.industry, Hepatosplenomegaly, medicine.disease, medicine.anatomical_structure, Bone scintigraphy, Langerhans cell histiocytosis, Pediatrics, Perinatology and Child Health, medicine, Etiology, Bone marrow, medicine.symptom, business, Lymph node, Rare disease
Abstract

Langerhans cell histiocytosis (LCH) is a rare disease of unknown etiology and varied picture and clinical course. The intensity and the outcome of LCH treatment depend on the amount and type of the affected organs, their dysfunction and age of the patient. In this paper we present the diagnostic difficulties in a 19-month-old girl with multisystem LCH, manifesting mainly by persistent fever, deep anemia, hepatosplenomegaly and lymphadenopathy, coexisting with EBV infection and urinary tract infection. On diagnosis, LCH was suspected once the bone lesions were detected on CT scans, which, however, were not confirmed in the bone scintigraphy. Histopathological diagnosis of LCH was based on the histopathological examination of the cervical lymph node, in which CD1a expression was detected. Myelogram morphologically was assessed as normal; however, bone marrow smears were respectively found to express CD1a. The patient received aggressive and long-lasting treatment according to the protocol LCH in 2009, yielding a complete clinical remission of LCH.

Published
2015

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