Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis by Andrea Luchetti, Diana Walsh, Fay Rodger, Graeme Clark, Tom Martin, Richard Irving, Mario Sanna, Masahiro Yao, Mercedes Robledo, Hartmut P. H. Neumann, Emma R. Woodward, Farida Latif, Stephen Abbs, Howard Martin, Eamonn R. Maher

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Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer by Wen Wen, Sen Zhao, Yiwen Jiang, Chengzhu Ou, Changyuan Guo, Ziqi Jia, Jiayi Li, Yansong Huang, Hengyi Xu, Pengming Pu, Tongxuan Shang, Lin Cong, Xiang Wang, Nan Wu, Jiaqi Liu

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System change in practice: A report from the EHC Think Tank workstreams on Access Equity and Future Care Pathways by Gacser Zita, Bourke Steven, Hosszú Dalma, Daniels Susan

“…The European Haemophilia Consortium (EHC) Think Tank was established as a platform for system change to ensure the healthcare ecosystem remains effective and relevant for people with bleeding disorders and other rare diseases. Operating alongside traditional advocacy initiatives, it comprised a series of thematic workstreams in which multiple stakeholders explored and co-designed potential solutions for specific aspects of the healthcare system. …”
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System change in practice: A report from the EHC Think Tank workstreams on Registries and Patient Agency by Gacser Zita, Skouw-Rasmussen Naja

“…Recognising the need for system change to ensure equitable access to healthcare for people with bleeding disorders and other rare diseases, the European Haemophilia Consortium (EHC) established a Think Tank to work alongside its traditional advocacy initiatives. …”
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Fabry cardiomyopathy: Gb3‐induced auto‐reactive panmyocarditis requiring heart transplantation by Andrea Frustaci, Maurizio Scarpa, Rosalia Maria da Riol, Chiara Agrati, Nicoletta Finato, Romina Verardo, Claudia Grande, Cristina Chimenti, Concetta Di Nora, Matteo Antonio Russo, Ugolini Livi

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Trismus Pseudocamptodactyly Syndrome: A Sporadic Cause of Trismus by Prathima Sreenivasan, Faizal C. Peedikayil, Sumal V. Raj, Manasa Anand Meundi

“…Reporting such a case is important as case reports are one of the sources of data for calculating the prevalence of rare diseases. Here, we report a case of trismus pseudocamptodactyly syndrome in an eight-year-old boy with a brief review of the literature.…”
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Microscopic Polyangiitis Initially Presumed to Be Endocarditis by Takahiro Kaneko, Shunsuke Hino, Yosuke Iijima, Norio Horie

“…The antineutrophil cytoplasmic antibody- (ANCA-) associated vasculitides (AAVs), which include fever of unknown origin (FUO), are rare diseases characterized by necrotizing inflammation of small blood vessels and the presence of ANCAs. …”
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Intravenous versus subcutaneous tocilizumab in Takayasu arteritis: multicentre retrospective study by Patrice Cacoub, Arsène Mekinian, David Saadoun, Pavel I Novikov, Savino Sciascia, Corrado Campochiaro, Olivier Fain, Ilya Smitienko, Nicolas Schleinitz, Patrick Jégo, Francesco Muratore, Carlo Salvarani, Elena Galli, Sabine Berthier, Marc Lambert, François Maurier, Isabelle Kone-Paut, Sergey Moiseev, Masataka Kuwana, Alexandre Belot, Martin Michaud, Francis Gaches, Achille Aouba, Xavier Puechal, Karim Sacre, Tiphaine Goulenok, Alessandro Tomelleri, Thomas Sené, Elena Marina Baldissera, Luigi Boiardi, Abid Awisat, Ygal Benhamou, Vahan Mukuchyan, Mathieu Vautier, Azeddine Dellal, Lucie Biard, Julie Seguier, José Hernández-Rodríguez, Olivier Espitia, Sebastien Humbert, Guillaume Denis, Nolan Hassold, Dagna Lorenzo, Helene Munoz Pons, Jean Baptiste Gaultier, Le Mouel Edwige, Antoinette Perlat, Bertrand Lioger, Jonathan Broner, Virginie Dufrost, Faten Frikha, Alexandra Audemard-Verger, Pascal Woaye-Hune, Pierre Zeminsky, Moya Alvarado, Matheus Vieira, Alberto Lo Gullo

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Evaluation of the Early Development of 6-Month-Old Babies in the Case of Maternal Postpartum Depression with or Without Bipolar Disorder by Jokthan Guivarch, Mélanie-Lou Persia, Laure Le Treut, Pauline Grandgeorge, Federico Solla, Hugo Pergeline, Michel Dugnat, Florence Askenazy, François Poinso, Arthur Varoquaux, Arnaud Fernandez

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Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis by Jeanneth Elizabeth Jami Carrera, John Sebastián Carvajal Gavilanes, Karen Gabriela Sulca Espín, Dennis Alexander Montenegro Montenegro

“…Stevens-Johnson syndrome and toxic epidermal necrolysis are severe mucocutaneous rare diseases with high morbid mortality characterized by generalized epidermal necrosis and skin detachment; They are distinguished from each other due to the extent of skin that is affected. …”
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Technical insights on adjustable velar extension and safety mechanism in Tübingen palatal plate for Pierre Robin sequence by Hemwati Nandan, Bert Braumann, Teresa Kruse, Michael Wolf, Pragjyoti Jha, Srinivas Gosla Reddy, Prasad Nalabothu

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Keratoconus with Central Serous Chorioretinopathy: A Rare Combination by Anastasia Tsiogka, Apostolos Gkartzonikas, Konstantinos Markopoulos, Iordanis Georgiou, George L. Spaeth

“…Keratoconus and central serous chorioretinopathy are two rare diseases. They can occur together in some individuals. …”
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A Group Feature Screening Procedure Based on Pearson Chi-Square Statistic for Biology Data with Categorical Response by Hanji He, Jianfeng He, Guangming Deng

“…The analysis of biogenetic data makes an important contribution to the understanding of disease mechanisms and the diagnosis of rare diseases. In this analysis, the selection of significant features affecting the disease provides an effective basis for subsequent disease judgment and treatment direction. …”
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Exploring the Impact of Large Language Models on Disease Diagnosis by Ibrahim Almubark

“…Moreover, the focus of these LLMs spans a broad spectrum of healthcare fields, addressing chronic conditions, respiratory diseases, cancer, and rare diseases. The performance evaluation of LLMs involves both qualitative and quantitative measures assessing their diagnostic accuracy. …”
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Single-cell RNA sequencing highlights the role of distinct natural killer subsets in sporadic amyotrophic lateral sclerosis by Esther Álvarez-Sánchez, Álvaro Carbayo, Natalia Valle-Tamayo, Laia Muñoz, Joaquim Aumatell, Soraya Torres, Sara Rubio-Guerra, Jesús García-Castro, Judit Selma-González, Daniel Alcolea, Janina Turon-Sans, Alberto Lleó, Ignacio Illán-Gala, Juan Fortea, Ricard Rojas-García, Oriol Dols-Icardo

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Epigenome-wide DNA methylation profiling in septic and non-septic patients with similar infections: potential use as sepsis biomarkers by Ian López-Cruz, Ian López-Cruz, José Luis García-Giménez, José Luis García-Giménez, José Luis García-Giménez, Manuel Madrazo, Manuel Madrazo, Judit García-Guallarte, Laura Piles, Federico V. Pallardó, Federico V. Pallardó, Federico V. Pallardó, Arturo Artero, Arturo Artero

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Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patie... by Julie Vallortigara, Julie Greenfield, Barry Hunt, Holm Graessner, Carola Reinhard, Andreas Nadke, Bart-Jan Schuman, Deborah Hoffman, Steve Morris, Paola Giunti

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Simulation of clinical trials of oral treprostinil in pulmonary arterial hypertension using a virtual population by Andrew E. Stine, Jignesh Parmar, Amy K. Smith, Zachary Cummins, Narasimha Rao Pillalamarri, R. Joseph Bender

“…Abstract Challenges in drug development for rare diseases such as pulmonary arterial hypertension can be addressed through the use of mathematical modeling. …”
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Rare or orphan diseases. A review study by Ener Mantilla Horna, Jóhel Osorio Fernández

“…There are more than 6,000 rare diseases, each with different symptoms and trajectories, and a prevalence of less than 1 case per 2,000 people. …”
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Meeting report: MyoIN – Pan-India collaborative network for myositis research by Latika Gupta, Sravan Kumar Appani, Ramya Janardana, Hafis Muhammed, Able Lawrence, Sanjiv Amin, Vineeta Shobha, Liza Rajasekhar, Ramnath Misra

“…Collaborative efforts in rare diseases from the Western world have yielded exemplary results. …”
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