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2561“…Stratification of these analyses by sex revealed distinctive differences in disease natural history and clinical management course. CONCLUSIONS: These findings describing the orthopaedic natural history and standard of care in patients with NGLY1 deficiency can facilitate diagnosis, inform prognosis, and guide treatment recommendations in an evidence-based manner. …”
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2562por Gras, Emmanuelle, Vu, Trang, Vu Vi Tran, Giang, Quynh Nhu Nguyen, Tran, Schneider-Smith, Erika, Povoa, Natalia, Povoa, Helvecio, Delaye, Thomas, Valour, Florent, An Diep, Binh“…Our study also provides guidance for the development of animal models by describing the natural history of disease and therapeutic validation. …”
Publicado 2019
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2563por Cobb, Neil S., Gall, Lawrence F., Zaspel, Jennifer M., Dowdy, Nicolas J., McCabe, Lindsie M., Kawahara, Akito Y.“…Our specific findings are as follows: (1) The majority of North American natural history collections (88%) and specimens (89%) are located in the United States. …”
Publicado 2019
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2564por Todd, Joshua J., Lawal, Tokunbor A., Witherspoon, Jessica W., Chrismer, Irene C., Razaqyar, Muslima S., Punjabi, Monal, Elliott, Jeffrey S., Tounkara, Fatoumata, Kuo, Anna, Shelton, Monique O., Allen, Carolyn, Cosgrove, Mary M., Linton, Melody, Michael, Darren, Jain, Minal S., Waite, Melissa, Drinkard, Bart, Wakim, Paul G., Dowling, James J., Bönnemann, Carsten G., Emile-Backer, Magalie, Meilleur, Katherine G.“…METHODS: In this 6-month natural history assessment (n = 37) followed by a randomized, double-blinded, placebo-controlled trial, 33 eligible participants were block-randomized (1:1) to receive NAC (n = 16) or placebo (n = 17), orally for 6 months (adult dose 2,700 mg/d; pediatric dose 30 mg/kg/d). …”
Publicado 2020
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2565por Prens, Errol P., Lugo-Somolinos, Aida M., Paller, Amy S., Kerdel, Francisco, Duan, Yinghui, Teixeira, Henrique D., Longcore, Michelle, Kimball, Alexa B.“…OBJECTIVES: Our objective was to report the baseline clinical characteristics, natural history, and associated outcomes of patients with HS from the ongoing, prospective, non-interventional UNITE registry that is collecting data regarding the natural history and associated outcomes of HS. …”
Publicado 2020
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2566“…RESULT: The natural history scenario is projected to have the fewest HBsAg losses (27.59 million) and highest number of HBV-related deaths (27.19 million). …”
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2567por Hennermann, Julia B., Guffon, Nathalie, Cattaneo, Federica, Ceravolo, Ferdinando, Borgwardt, Line, Lund, Allan M., Gil-Campos, Mercedes, Tylki-Szymanska, Anna, Muschol, Nicole M.“…In addition, SPARKLE will expand the current understanding of alpha-mannosidosis by collecting data on the clinical manifestations, progression, and natural history of the disease in treated and untreated patients, respectively. …”
Publicado 2020
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2568por Chanprapaph, Kumutnart, Tankunakorn, Jutamas, Suchonwanit, Poonkiat, Rutnin, Suthinee“…However, information on the clinical, histopathologic, and direct immunofluorescence (DIF) features among subtypes of cutaneous lupus erythematosus (CLE), as well as longitudinal prospective observational study to evaluate the natural history and the progression to SLE, is lacking among Asians. …”
Publicado 2020
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2569por Ward, Leanne M, de Bergua, Josep Maria, Robinson, Marie-Eve, Zhang, Ying, Decker, Carl, Giwa, Adebola, Charlton, R William“…The precise timing of comorbidity onset and the natural history of many of the skeletal dysplasia features are incompletely defined. …”
Publicado 2021
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2570por Javaid, Muhammad Kassim, Mordenti, Marina, Boarini, Manila, Sangiorgi, Luca, Westerheim, Ingunn, Alves, Inês, Skarberg, Rebecca Tvedt, Appelman-Dijkstra, Natasha M., Grasemann, Corinna“…BACKGROUND: Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. …”
Publicado 2021
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2571“…Data sources and methods to estimate four types of input parameters including health-related quality of life (HRQoL); natural history; treatment effect; resource use were extracted and appraised. …”
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2572por Yang, Min, Awano, Hiroyuki, Tanaka, Satoru, Toro, Walter, Zhang, Su, Dabbous, Omar, Igarashi, Ataru“…We sought to summarize the literature on the natural history of SMA and the impact of SMA DMTs, including health-related quality of life (HRQOL) and utilities, clinical efficacy and safety, and economic impact. …”
Publicado 2022
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2573“…These results indicate that the natural history of LSS differs according to grade of maximal central and foraminal stenoses.…”
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2574por Erro, Roberto, Pilotto, Andrea, Esposito, Marcello, Olivola, Enrica, Nicoletti, Alessandra, Lazzeri, Giulia, Magistrelli, Luca, Dallocchio, Carlo, Marchese, Roberta, Bologna, Matteo, Tessitore, Alessandro, Misceo, Salvatore, Gigante, Angelo Fabio, Terranova, Carmen, Moschella, Vincenzo, di Biase, Lazzaro, Di Giacopo, Raffaella, Morgante, Francesca, Valentino, Francesca, De Rosa, Anna, Trinchillo, Assunta, Malaguti, Maria Chiara, Brusa, Livia, Matinella, Angela, Di Biasio, Francesca, Paparella, Giulia, De Micco, Rosa, Contaldi, Elena, Modugno, Nicola, Di Fonzo, Alessio, Padovani, Alessandro, Barone, Paolo“…As a result, precise information of demographics, clinical features, and about the natural history of these conditions are lacking. METHODS: The ITAlian tremor Network (TITAN) is a multicenter data collection platform, the aim of which is to prospectively assess, according to a standardized protocol, the phenomenology and natural history of tremor syndromes. …”
Publicado 2022
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2575por Souza, Paulo Victor Sgobbi, Afonso, Gliciane, de Rezende Pinto, Wladimir Bocca Vieira, de Lima Serrano, Paulo, de Mattos Lombardi Badia, Bruno, Farias, Igor Braga, dos Santos Jorge, Ana Carolina, Machado, Roberta Ismael Lacerda, Pinto, Icaro França Navarro, Barros, Glenda Barbosa, de Oliveira, Helvia Bertoldo, Calil, Samia Rogatis, Franz, Cibele, Oliveira, Acary Souza Bulle“…Unfortunately, the porphyrias are usually underrecognized reflecting a lack of medical and disease awareness as well as few studies about natural history in large cohorts of patients. The main aim of this article is present consistent data about natural history and burden of disease in a large Brazilian cohort. …”
Publicado 2023
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2576“…These tumors are also known as aggressive fibromatosis and have an unpredictable natural history that varies depending on risk factors. …”
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2577por López-Perilla, Yeny Rocio, Fernández-Roldán, Juan David, Meza-Joya, Fabio Leonardo, Medina-Rangel, Guido Fabian“…Lastly, the distribution, natural history, and conservation status of the new species are discussed.…”
Publicado 2023
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2578por Pimenta, Madalena, Vassalou, Evangelia E., Cardoso-Marinho, Beatriz, Klontzas, Michail E., Dimitri-Pinheiro, Sofia, Karantanas, Apostolos H.“…This review will present the current literature data on the natural history and pathophysiology of the disease, and will highlight the role of imaging in the prompt and accurate diagnosis as well as in the imaged-guided treatment with emphasis on ultrasonography.…”
Publicado 2023
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2579“…In addition, understanding disease progression by tracing monkeypox cases provides valuable information on the disease's natural history, including the timeline and sequence of symptoms, associated complications, and outcomes, to avoid any small chance related to our lack of validated knowledge or incorrect assessment of the disease or the associated complications between an exposure and an effect in the target organs.…”
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2580“…Reporting new cases will contribute to improving our understanding of the biology, natural history, and management of this rare pathological combination.…”
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