Improving neuroendocrine tumor treatments with mathematical modeling: lessons from other endocrine cancers by John Metzcar, Rachael Guenter, Yafei Wang, Kimberly M Baker, Kate E Lines

“…Through a cross-disciplinary approach, we believe that many currently difficult problems can be made more tractable by applying mathematical modeling and that the field of rare diseases in endocrine oncology is well poised to take advantage of these techniques.…”
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Spondyloarthritis and Risk of Malignancy: A Narrative Review on a Still Controversial Issue by Ennio Giulio Favalli, Francesco Grossi, Alberto Batticciotto, Matteo Filippini, Simone Parisi, Ombretta Viapiana, Paolo Gisondi, Paolo Dapavo, Lorenzo Dagna, Filippo De Braud

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Chronic rhinosinusitis with nasal polyps: Key considerations in the multidisciplinary team approach by Oliver Pfaar, Anju T. Peters, Camille Taillé, Thijs Teeling, Jared Silver, Robert Chan, Peter W. Hellings

“…Conclusion This article provides an overview of the patient perspective of MDTs, existing approaches and barriers to adoption, lessons learnt from allied and rare diseases, how to address under‐recognised aspects of CRSwNP, and other key considerations for developing an MDT approach.…”
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Increase of circulating IGFBP-4 following genotoxic stress and its implication for senescence by Nicola Alessio, Tiziana Squillaro, Giovanni Di Bernardo, Giovanni Galano, Roberto De Rosa, Mariarosa AB Melone, Gianfranco Peluso, Umberto Galderisi

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cGAS-STING targeting offers therapy choice in lung diseases by Yu Wang, Xuan Zhang, Weixue Wang, Yi Zhang, Joshua S. Fleishman, Hongquan Wang

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Advanced delivery systems for gene editing: A comprehensive review from the GenE-HumDi COST Action Working Group by Alessia Cavazza, Francisco J. Molina-Estévez, Álvaro Plaza Reyes, Victor Ronco, Asma Naseem, Špela Malenšek, Peter Pečan, Annalisa Santini, Paula Heredia, Araceli Aguilar-González, Houria Boulaiz, Qianqian Ni, Marina Cortijo-Gutierrez, Kristina Pavlovic, Inmaculada Herrera, Berta de la Cerda, Emilio M. Garcia-Tenorio, Eva Richard, Sergio Granados-Principal, Arístides López-Márquez, Mariana Köber, Marijana Stojanovic, Melita Vidaković, Irene Santos-Garcia, Lorea Blázquez, Emily Haughton, Dongnan Yan, Rosario María Sánchez-Martín, Loubna Mazini, Gloria Gonzalez Aseguinolaza, Annarita Miccio, Paula Rio, Lourdes R. Desviat, Manuel A.F.V. Gonçalves, Ling Peng, Cecilia Jiménez-Mallebrera, Francisco Martin Molina, Dhanu Gupta, Duško Lainšček, Yonglun Luo, Karim Benabdellah

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Outcome measures in muscular dystrophy rehabilitation: an ICF content comparison approach to the most commonly used MD scales by Mihaela Taranu, Raquel Sebio-García, José C. Milisenda, Aida Alejaldre, Xavier Pastor, Sarah Laxe

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Automated Detection of Macular Diseases by Optical Coherence Tomography and Artificial Intelligence Machine Learning of Optical Coherence Tomography Images by Soichiro Kuwayama, Yuji Ayatsuka, Daisuke Yanagisono, Takaki Uta, Hideaki Usui, Aki Kato, Noriaki Takase, Yuichiro Ogura, Tsutomu Yasukawa

“…The precision and recall of the CNN model were 0.85 and 0.97 for normal eyes, 1.00 and 0.77 for wet AMD, 0.78 and 1.00 for DR, and 0.75 and 0.75 for ERMs, respectively. Some of rare diseases such as Vogt–Koyanagi–Harada disease were correctly detected by image augmentation in the CNN training. …”
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Tissue-specific roles of de novo DNA methyltransferases by Dániel Márton Tóth, Flóra Szeri, Mária Ashaber, Muhyiddeen Muazu, Lóránt Székvölgyi, Tamás Arányi

“…Genetic variants of DNMT3A and DNMT3B cause rare diseases such as Tatton-Brown-Rahman and ICF syndromes. …”
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Matching plus regression adjustment for the estimation of the average treatment effect on survival outcomes: a case study with mosunetuzumab in relapsed/refractory follicular lymph... by Danilo Di Maio, S. A. Mitchell, S. Batson, E. Keeney, Howard H. Z. Thom

“…Single-arm trials and real-world data are playing an increasing role in health technology assessments, particularly in oncology/rare diseases, generating a need for new ATE estimation methods. …”
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Reforming the innovation system to deliver affordable medicines: a conceptual framework of pharmaceutical innovation as a complex adaptive system (forest) and theory of change by Suerie Moon, Adrian Alonso Ruiz, Marcela C. F. Vieira, Kaitlin E. Large, Iulia Slovenski

“…We found a critical mass of initiatives clustered around four areas: pandemic preparedness, neglected diseases, rare diseases and antibiotics, which we conceptualised as niches within the ecosystem. …”
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68Ga-NOTA-RM26 PET/CT in the evaluation of glioma: a pilot prospective study by Yilin Li, Rongxi Wang, Jingci Chen, Zhaohui Zhu, Yu Wang, Wenbin Ma

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A Network Investigation on Idiopathic Hypogonadotropic Hypogonadism in China by Weiwei Zhao, Hongying Ye, Xiaolong Zhao, Zhaoyun Zhang, Shouyue Sun, Yiran Jiang, Min He, Cheng Xu, Renming Hu, Yiming Li

“…In conclusion, disease-specific network investigation can be used as an alternative method of medical research for rare diseases. The results of our cross-sectional study showed the effectiveness of hormone replacement therapy for IHH and implied that gonadotropin and androgen replacement therapy may be superior to gonadotropin treatment alone.…”
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Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerlan... by Christina Kaufman, Anaïs D’Andrea, Annette Hackenberg, Martin Poms, Olivier Braissant, Johannes Häberle

“…Abstract Background Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a defect in the creatine transporter (CRTR), which is essential for uptake of creatine as important energy source into the target cells. …”
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Trace amine-associated receptors (TAARs)2-9 knockout mice exhibit reduced wakefulness and disrupted REM sleep by Sunmee Park, Jasmine Heu, Gavin Scheldrup, Ryan K. Tisdale, Yu Sun, Meghan Haire, Shun-Chieh Ma, Marius C. Hoener, Thomas S. Kilduff

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Inflammatory rheumatic diseases with onset after SARS-CoV-2 infection or COVID-19 vaccination: a report of 267 cases from the COVID-19 and ASD group by Laura Massaro, Annamaria Iagnocco, Florenzo Iannone, Corrado Campochiaro, Maria De Santis, Ilaria Cavazzana, Piero Ruscitti, Roberto Giacomelli, Rosario Foti, Lorenzo Dagna, Giovanna Cuomo, Giacomo De Luca, Francesco Caso, Ilenia Di Cola, Clodoveo Ferri, Vincenzo Raimondo, Francesco Ursini, Veronica Brusi, Giuseppe Varcasia, Roberta Pellegrini, Domenico Olivo, Giuseppe Murdaca, Carlo Selmi, Olga Addimanda, Erika Pigatto, Francesca Francioso, Rossella De Angelis, Jacopo Ciaffi, Luana Mancarella, Marcella Visentini, Francesca Motta, Virginia Caira, Alberto Lo Gullo, Caterina Naclerio, Elena Marchetti, Sebastiano Lorusso, Jessica Luppino, Roberta Foti, Massimo Reta

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Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications by Vincenzo Salpietro, Agata Polizzi, Gabriella Di Rosa, Anna Claudia Romeo, Valeria Dipasquale, Paolo Morabito, Valeria Chirico, Teresa Arrigo, Martino Ruggieri

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Early and Late Complications Associated with Penile Cancer Surgery and the Impact of Human Papillomavirus Status: Findings from a Retrospective Norwegian Cohort Study by Patrick Juliebø-Jones, Ida M. Nordanger, Christian Beisland, Tor K. Thorkelsen, Alfred Honoré, Christian A. Moen

“…Background and objective: Penile cancer (PeCa) and penile intraepithelial neoplasia (PeIN) are rare diseases, and the burden of complications associated with surgery remains under-reported. …”
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Genetic evidence for the causal effect of clonal hematopoiesis on pulmonary arterial hypertension by Jia-Yong Qiu, Shen-Shen Huang, Chao Liu, Dong Ding, Yan-Hong Xu, Yi-Min Mao, Ya-Dong Yuan

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Aerobic capacity and muscle proteome: Insights from a mouse model by Abel Plaza‐Florido, Alejandro Santos‐Lozano, Susana López‐Ortiz, Beatriz G. Gálvez, Joaquín Arenas, Miguel A. Martín, Pedro L. Valenzuela, Tomàs Pinós, Alejandro Lucia, Carmen Fiuza‐Luces

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