Long-Term Safety and Effectiveness of Canakinumab in Patients with MKD/HIDS: Interim Analysis of the RELIANCE Registry by Prasad T. Oommen, Tilmann Kallinich, Juergen Rech, Norbert Blank, Julia Weber-Arden, Jasmin B. Kuemmerle-Deschner

“…Conclusion Data from this interim analysis of a unique registry of patients with a rare disease support the long-term safety and effectiveness of the IL-1-blocking agent canakinumab for the treatment of MKD/HIDS.…”
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Langerhans cell histiocytosis in children: the value of ultrasound in diagnosis and follow-up by Jinjin Yang, Xiaohua Huang, Zhongtao Bao, Jing Xu, Huimei Huang, Hongjie Huang, Ling Chen

“…Abstract Background Langerhans cell histiocytosis (LCH) is a rare disease, most prevalent in children. Ultrasound is a noninvasive, cheap, and widely available technique. …”
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UAV rice panicle blast detection based on enhanced feature representation and optimized attention mechanism by Shaodan Lin, Deyao Huang, Libin Wu, Zuxin Cheng, Dapeng Ye, Haiyong Weng

“…The use of Focal Tversky Loss ensures robustness against dataset imbalances, enabling accurate identification of rare disease categories. Despite these strengths, future efforts should focus on improving classification accuracy and adapting the model to diverse environmental conditions. …”
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Predicting risk factors for Epstein-Barr virus reactivation using Bayesian network analysis: a population-based study of high-risk areas for nasopharyngeal cancer by Zhiwen Zeng, Kena Lin, Xueqi Li, Xueqi Li, Tong Li, Xiaoman Li, Jiayi Li, Zule Ning, Qinxian Liu, Shanghang Xie, Sumei Cao, Sumei Cao, Jinlin Du

“…Background and objectiveNasopharyngeal carcinoma (NPC) is a rare disease in most parts of the world, but it is highly prevalent in South China. …”
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Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the MYH6 and MYH7 gene by Jassin Hamidi, Yvonne Hanel, Sven Dittmann, Wanda Maria Gerding, Huu Phuc Nguyen, Karin Klingel, Eric Schulze-Bahr

“…Consequently, two distinct and rare disease entities co-occurred in this patient, both ultimately leading to HCM.DiscussionTo date, no other case featuring wild-type transthyretin amyloidosis (wtATTR) concurrently with a chromosomal duplication affecting both cardiac myosin heavy chain genes has been reported in the literature. …”
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The Effectiveness of Rapamycin Combined with Eltrombopag in Murine Models of Immune-Mediated Bone Marrow Failure by Shaoxue Ding, Xiaowei Liang, Tian Zhang, Rong Fu

“…Severe aplastic anemia (SAA) is a rare disease characterized by severe pancytopenia and bone marrow failure. …”
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Development, optimization and application of a universal fluorescence multiplex PCR-based assay to detect BCOR genetic alterations in pediatric tumors by Meng Zhang, Xingfeng Yao, Nan Zhang, Yongbo Yu, Chao Jia, Xiaoxing Guan, Wenjian Xu, Xin Ni, Yongli Guo, Lejian He

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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome by Sujie Xiong, Guangyao Hu, Yao Zhou, Fei Sun, Yanlin Ma

“…Our findings expand the mutation spectrum of DYNC2H1 in this rare disease and highlight the value of WES in the diagnosis of skeletal dysplasia with unclear prenatal indications.…”
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Spondilitis Tuberkulosa Cervical by Roni Eka Saputra, Irsal Munandar

“…Keterlibatan spinal biasanya merupakan akibat dari penyebaran hema<br />Kata kunci: spondilitis TB, cervical, pembedahan<br /> <br />Abstract <br />Cervical tuberculous spondylitis is a fairly rare disease, only about 2-3% of all cases of tuberculous<br />spondylitis. …”
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European Guideline on IgG4-related Digestive Disease — UEG and SGF Evidence-based Recommendations by J.-M. Lohr, U. Beuers, M. Vujasinovic, D. Alvaro, J. B. Frøkjær, F. Buttgereit, G. Capurso, E. L. Culver, E. de-Madaria, E. Della-Torre, S. Detlefsen, E. Dominguez-Munoz, P. Czubkowski, N. Ewald, L. Frulloni, N. Gubergrits, D. G. Duman, Th. Hackert, J. Iglesias-Garcia, N. Kartalis, A. Laghi, F. Lammert, F. Lindgren, A. Okhlobystin, G. Oracz, A. Parniczky, R. M. P. Mucelli, V. Rebours, J. Rosendahl, N. Schleinitz, A. Schneider, E. FH van Bommel, C. S. Verbeke, M. P. Vullierme, H. Witt, the UEG guideline working group

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Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry by Antonio Di Muzio, Corrado Angelini, Tiziana Mongini, Liliana Vercelli, Lucia Morandi, Giovanni Antonini, Gabriele Siciliano, Lucio Santoro, Maurizio Moggio, Giacomo Brisca, Luisa Villa, Giuliano Tomelleri, Francesco Sera, Carmelo Rodolico, Lorenzo Maggi, Giulia Ricci, Angela Berardinelli, Elena Pegoraro, Sabrina Ravaglia, Chiara Fiorillo, Michelangelo Cao, Rossella Tupler, Ana Nikolic, Elisabetta Bucci, Monica Govi, Fabiano Mele, Marta Rossi, Lucia Ruggiero, Maria Chiara D'Amico, Maria Grazia D'Angelo, Claudio Bruno

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