Anesthetic Management of an Obstetric Patient with Behçet’s Disease Complicated by Transverse Myelitis by Sara Alwatban, Etedal AlAamri, Abdullah Alraffa, Mona Alkhawajah

“…Transverse myelitis can be a manifestation of neuro-Behçet’s disease. For those two rare diseases to present in one patient sets a challenge in anesthetic management. …”
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Single-cell RNA-seq data augmentation using generative Fourier transformer by Nima Nouri

“…However, its full potential to achieve statistically reliable conclusions is often constrained by the limited number of cells profiled, particularly in studies of rare diseases, specialized tissues, and uncommon cell types. …”
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Mandibular Metastasis of Silent Papillary Thyroid Carcinoma: A Rare Case Report with Review of the Literature by Shahzad Gholami, Mahin Bakhshi, Saede Atarbashi-Moghadam, Hassan Mir Mohammad Sadeghi, Arezoo Rahimzamani

“…Reporting rare cases such as this one, together with reviewing previous reports of related rare diseases, will expand the body of knowledge about these uncommon lesions.…”
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Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide by Jithma P. Abeykoon, Narjust Duma, Jennifer A. Tracy, Margherita Milone, Ronald Go

“…Through this fascinating case, we attempt to highlight the approach for the diagnoses of two rare diseases in a patient by emphasizing the importance of having a broad differential diagnosis when presented with findings which may have been thought as pathognomonic for certain diseases.…”
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COVID-19 and children with congenital anomalies: a European survey of parents’ experiences of healthcare services by Ingeborg Barisic, Carlos Matias Dias, Amanda Neville, Anna Pierini, Anke Rissmann, Joan K Morris, Judith Rankin, Ester Garne, Anna Latos-Bielenska, Elena Marcus, Anna Jamry-Dziurla, Ljubica Odak, Clara Cavero- Carbonell, Elly Den Hond, Lucas Genard, Ana João Santos, L Renée Lutke, Christina Neergaard Pedersen, Annika Niemann, Lucía Páramo-Rodríguez

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Jadassohn-Lewandowsky syndrome. Report of the first pediatric case in Cuba by Migdalis Hidalgo Muñiz, Aracelis Hernández García, Andrés Andrés Matos, Yadelis Maldonado Martínez

“…Jadassohn-Lewandowsky syndrome or congenital pachyonychia type 1 belongs to the rare diseases’ group. Worldwide, less than a thousand cases have been described to date and the one that is now published constitutes the first pediatric age report in Cuba. …”
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Pain catastrophising in Chinese patients with breast cancer during postoperative chemotherapy: a qualitative study by Jing Ma, Jingyi Wang, Hongying Wang, Chen Tang, Yanting Zhang, Wenjia Long, Jun Zhong

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Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients by Sophie Ronceray, Juliette Miquel, Antoine Lucas, Gérald E. Piérard, Trinh Hermanns-Lê, Anne De Paepe, Alain Dupuy

“…We suggest adding EDS-VIII to the list of rare diseases accounting for chronic leg ulcers, if this case report prompts others to report leg ulcers associated with EDS-VIII.…”
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Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis by Sasha Libbrecht, Francois Eyskens, Sabine Declercq, Cecile Colpaert

“…Lysosomal storage disorders (LSDs) are rare diseases with more than 50 different entities described today. …”
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Diabetes Mellitus, Extreme Insulin Resistance, and Hypothalamic-Pituitary Langerhans Cells Histiocytosis by Mathilde Sollier, Marine Halbron, Jean Donadieu, Ahmed Idbaih, Fleur Cohen Aubart, Corinne Vigouroux, Martine Auclair, Olivier Bourron, Marie Bastin, Géraldine Béra, Philippe Touraine, Jacques Young, Héléna Mosbah, Agnès Hartemann, Fabrizio Andreelli, Chloé Amouyal

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Use of Open Claims vs Closed Claims in Health Outcomes Research by Onur Baser, Gabriela Samayoa, Nehir Yapar, Erdem Baser, Fatih Mete

“…Therefore, especially for new medications and rare diseases, open claims data can provide information much earlier than closed claims, which usually have a time lag of 6 to 8 months.…”
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Fatal Postpartum Hemorrhage in a Patient with Niemann-Pick Disease Type B by Atakan Tanacan, Abdullah Yalcin, Canan Unal, Seda Banu Akinci, Mehmet Sinan Beksac

“…In conclusion, physicians should keep in mind that patients with a history of splenectomy and/or uncontrollable hemorrhage must be carefully evaluated for rare diseases like lysosomal storage diseases and that NPD B can cause mortality because of postpartum bleeding. …”
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Urinary Obstruction of Transplanted Kidney Caused by Uterine Adenomyosis and 2-Year Posthysterectomy Psoas Abscess in Conjunction with Transplanted Kidney by Yuta Takezawa, Yoshifumi Kadono, Takahiro Nohara, Atsushi Mizokami

“…We should keep these rare diseases in mind when treating such cases.…”
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Drivers of innovation value: simulation for new drug pricing evaluation based on system dynamics modelling by Qian Xing, Wendi Cheng, Wei Wang, Chunlin Jin, Haiyin Wang

“…The most substantial growth in value occurs in medications for rare diseases and niche markets, with effects varying in the short to medium term and stabilizing over the long term. …”
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Distal muscle weakness as the main onset symptom in thymoma-associated myasthenia gravis: a case report and literature review by Xuan Wu, Xiao-tian Xu, Lin Zhou, Kai Qiao, Chong-bo Zhao, Su-shan Luo

“…Myasthenia gravis (MG) is an autoimmune disorder within the spectrum of neuromuscular rare diseases, characterized by fluctuating muscle weakness. …”
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LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient by Ivanka Dimova, Ivo Kremensky

“…The exact molecular and clinical diagnoses, respectively, are a prerequisite for the most effective treatment; sometimes orphan drugs exist for some rare diseases. One of such drugs is Tarix, which was FDA approved and announced in 2016 for treatment of MDC1A. …”
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A multimodal multidomain multilingual medical foundation model for zero shot clinical diagnosis by Fenglin Liu, Zheng Li, Qingyu Yin, Jinfa Huang, Jiebo Luo, Anshul Thakur, Kim Branson, Patrick Schwab, Bing Yin, Xian Wu, Yefeng Zheng, David A. Clifton

“…We propose the Multimodal Multidomain Multilingual Foundation Model. It is useful for rare diseases and non-English languages, where the labeled data are frequently much more scarce, and may even be absent. …”
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Beyond the dichotomy: understanding the overlap between atopic dermatitis and psoriasis by Mengmeng Li, Jiangyi Wang, Qingfeng Liu, Youqing Liu, Wenyao Mi, Wei Li, Wei Li, Jingyi Li

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Seronegative Arthritis and Whipple Disease: Risk of Misdiagnosis in the Era of Biologic Agents by Luca Quartuccio, Ivan Giovannini, Stefano Pizzolitto, Maurizio Scarpa, Salvatore De Vita

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Prevalence and Antibiotic Resistance Patterns of Ocular Bacterial Strains Isolated from Pediatric Patients in University Hospital of Campania “Luigi Vanvitelli,” Naples, Italy by Francesco Petrillo, Veronica Folliero, Biagio Santella, Gianluigi Franci, Francesco Foglia, Maria C. Trotta, Maria T. Della Rocca, Teresio Avitabile, Caterina Gagliano, Marilena Galdiero

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