Spinal muscular atrophy in an upper-middle-income nation before the advent of reimbursed disease-modifying therapies

Autor: Kamornwan Katanyuwong, Utcharee Intusoma, Kullasate Sakpichaisakul, Tanitnun Paprad, Piradee Suwanpakdee, Chaiyos Khongkhatithum, Oranee Sanmaneechai

Publikováno v: BMJ Paediatrics Open, Vol 8, Iss 1 (2024)

Objective To elucidate the clinical characteristics and standard of care (SoC) of spinal muscular atrophy (SMA) patients in Thailand, focusing on primary endpoints: age at death and a composite of death or tracheostomy need.Design Retrospective obser

Externí odkaz: https://doaj.org/article/54ab785ec6314b049ea27a04a43f0ad5

Diffuse neonatal hemangiomatosis with a single atypical cutaneous hemangioma

Autor: Wipawee Morakote, MD, Kamornwan Katanyuwong, MD, Chulabhorn Pruksachatkun, MD, Pongsak Mahanupab, MD, Chane Choedamphai, MD, Pannee Visrutaratna, MD, Salita Angkurawaranon, MD

Publikováno v: Radiology Case Reports, Vol 17, Iss 8, Pp 2759-2764 (2022)

Diffuse neonatal hemangiomatosis (DNH) is an extremely rare but deadly neonatal condition which presents as multiple cutaneous hemangiomas and hemangiomas in 3 or more visceral organs. DNH is usually suspected when multiple hemangiomas are found on t

Externí odkaz: https://doaj.org/article/530a91bf7ab94c0a8e94a9438ac8b1d7

Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

Autor: Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood, Anna C. Jansen, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayse Serdaroglu, Zuhal Yapici, Banu Anlar, Sakir Altunbasak, Olga Lvova, Oleg Valeryevich Belyaev, Oleg Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo Yan, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei-Lung Chen, Hsiu-Fen Lee, Jeng-Dau Tsai, Ching-Shiang Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, Jo Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal-Valevski, Panagiotis Papathanasopoulos, Antigone Syrigou Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc Dhooghe, Hélène Verhelst, Filip Roelens, Marie Cecile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne De Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cances, Jean-Michel Pedespan, Dorothee Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Gueden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Campistol Planas, Antonio Martinez Bermejo, Patricia Smeyers Dura, Susana Roldan Aparicio, Maria Jesus Martinez Gonzalez, Javier Lopez Pison, Manuel Oscar Blanco Barca, Eduardo Lopez Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Malaga Dieguez, Ana Camacho Salas, Itxaso Marti Carrera, Eduardo Martinez Salcedo, Maria Eugenia Yoldi Petri, Ramon Cancho Candela, Ines da Conceicao Carrilho, Jose Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endziniene, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vintan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Zilinska, Ursula Gruber-Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostasy, Ekaterina Pataraia, Frances Elmslie, Clare Ann Johnston, Pamela Crawford, Peter Uldall, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer-Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, Regina Trollmann

Publikováno v: Frontiers in Neurology, Vol 11 (2020)

Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TA

Externí odkaz: https://doaj.org/article/0d2a822147c14b50947f4f220e1b67cb

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

Autor: Duangrurdee Wattanasirichaigoon, Natini Jinawath, Tassanee Lerksuthirat, Nithiwat Vatanavicharn, Nusara Satproedprai, Arthaporn Kongkrapan, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Bhoom Suktitipat, Thipwimol Tim-Aroon, Surakameth Mahasirimongkol, Kanya Moolsuwan, Jakris Eu-ahsunthornwattana, Khunton Wichajarn, Supranee Thongpradit, Kullasate Sakpichaisakul

Publikováno v: BMC Pediatrics, Vol 21, Iss 1, Pp 1-9 (2021)
BMC Pediatrics

Background Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. The disorder is caused by deficiency of β-hexosaminidase B (HEX-B), due to pathogenic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da8d103f1855baeb62aecf039e196f7d
https://doaj.org/article/5793a6bb9459425ea999df2f70d8699e

Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome

Autor: Piranit N. Kantaputra, Salita Angkurawaranon, Krit Khwanngern, Chumpol Ngamphiw, Worrachet Intachai, Ploy Adisornkanj, Sissades Tongsima, Bjorn Olsen, Nuntigar Sonsuwan, Kamornwan Katanyuwong

Publikováno v: Genes. 13:1850

Objective: To report the clinical and radiographic findings and molecular etiology of the first monozygotic twins affected with Pfeiffer syndrome. Methods: Clinical and radiographic examination and whole exome sequencing were performed on two monozyg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::945cc4557a9ee9b9ce01e4dda2282f3d
https://doi.org/10.3390/genes13101850