Health-related quality of life and influencing factors of patients with paroxysmal nocturnal hemoglobinuria in China
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder, leading to various complications and impairments in patients ’ health-related quality of life (HRQOL). Limited research has been conducted to ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 3, 2024 Category: Internal Medicine Authors: Huaxin Yu, Shengnan Duan, Pei Wang, Rong Fu, Zixuan Lv, Yuchi Yu, Pu Miao, Junwei Shi, Niekun Zhuang, Huiying Hu, Ni Yuan and Sijia Che Tags: Research Source Type: research
Clinical characteristics, radiological features and outcomes in pulmonary involvement of cryoglobulinemia
Cryoglobulinemia with pulmonary involvement is rare, and its characteristics, radiological findings, and outcomes are still poorly understood. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 2, 2024 Category: Internal Medicine Authors: Hong-xiao Han, Wei Su, Xinlun Tian, Dao-bin Zhou, Jian Li and Xin-xin Cao Tags: Research Source Type: research
An algorithm to identify patients aged 0 –3 with rare genetic disorders
With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccu... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 2, 2024 Category: Internal Medicine Authors: Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt and Li Li Tags: Research Source Type: research
Project SATURN – a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effe... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 2, 2024 Category: Internal Medicine Authors: L. Sangiorgi, M. Boarini, I. Westerheim, R. T. Skarberg, J. Clancy, V. Wang and M. Mordenti Tags: Position statement Source Type: research
A systematic literature review on the health-related quality of life and economic burden of Fabry disease
Fabry disease (FD) is a rare lysosomal storage disease associated with glycolipid accumulation that impacts multiple physiological systems. We conducted a systematic literature review (SLR) to characterize the... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 30, 2024 Category: Internal Medicine Authors: Ana Jovanovic, Eve Miller-Hodges, Felicia Castriota, Shweta Takyar, Heena Howitt and Olulade Ayodele Tags: Review Source Type: research
Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)
Little is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their caregivers. T... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 30, 2024 Category: Internal Medicine Authors: Madoka Mori-Yoshimura, Keiko Ishigaki, Yuko Shimizu-Motohashi, Naoko Ishihara, Atushi Unuma, Sumiko Yoshida and Harumasa Nakamura Tags: Research Source Type: research
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study
This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 30, 2024 Category: Internal Medicine Authors: Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac and Pascal Amedro Tags: Research Source Type: research
Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses
Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and even to t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 29, 2024 Category: Internal Medicine Authors: Jing-Wen Li, Shao-Jia Mao, Yun-Qi Chao, Chen-Xi Hu, Yan-Jie Qian, Yang-Li Dai, Ke Huang, Zheng Shen and Chao-Chun Zou Tags: Review Source Type: research
Epidemiology of autoimmune liver disease in Korea: evidence from a nationwide real-world database
Autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC) are all immune-mediated chronic inflammatory liver diseases. Autoimmune liver diseases are rare, making i... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 29, 2024 Category: Internal Medicine Authors: Jihye Lim and Hwa Jung Kim Tags: Research Source Type: research
‘BLUES’ procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta
Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals w... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 27, 2024 Category: Internal Medicine Authors: Valerio Di Martino, Fabiana Mallone, Alessandro Lambiase, Mauro Celli, Alice Mannocci, Luca Celli, Pietro Mangiantini, Pasquale Fino and Antonietta Moramarco Tags: Research Source Type: research
Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center
Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 27, 2024 Category: Internal Medicine Authors: Bruno Donadille, Sonja Janmaat, H éléna Mosbah, Inès Belalem, Sophie Lamothe, Mariana Nedelcu, Anne-Sophie Jannot, Sophie Christin-Maitre, Bruno Fève, Camille Vatier and Corinne Vigouroux Tags: Research Source Type: research
Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease
Polycystic liver disease (PLD) is a rare condition observed in three genetic diseases, including autosomal dominant polycystic liver disease (ADPLD), autosomal dominant polycystic kidney disease (ADPKD), and a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 26, 2024 Category: Internal Medicine Authors: Amir Ali Mahboobipour, Moein Ala, Javad Safdari Lord and Arash Yaghoobi Tags: Review Source Type: research
Exploration of treatment in childhood Langerhans cell histiocytosis based on inflammatory and malignant symptoms: a pilot study
Multisystem childhood Langerhans cell histiocytosis (LCH) patients, especially those with risk organ (RO) involved, had not been satisfactorily treated under the international traditional schemes as high incid... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 23, 2024 Category: Internal Medicine Authors: Hui-ling Lin, Qing-qing Zheng, Ru-lin Huang, Rong Hu, Xiao-dan Liu and Jia-yi Wang Tags: Research Source Type: research
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases
Genetic testing can offer early diagnosis and subsequent treatment of rare neuromuscular diseases. Options for these tests could be improved by understanding the preferences of patients for the features of dif... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 22, 2024 Category: Internal Medicine Authors: Carol Mansfield, Marco Boeri, Josh Coulter, Eileen Baranowski, Susan Sparks, Kristina An Haack and Alaa Hamed Tags: Research Source Type: research
A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease
The ‘diagnostic odyssey’ is a common challenge faced by patients living with rare diseases and poses a significant burden for patients, their families and carers, and the healthcare system. The diagnosis of ra... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2024 Category: Internal Medicine Authors: Mariam Al-Attar, Sondra Butterworth and Lucy McKay Tags: Research Source Type: research
