Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis
Rapid progressive interstitial lung disease (RP-ILD) is the leading cause of anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis (anti-MDA5+DM) related death. Elevated serum B-cel... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2024 Category: Internal Medicine Authors: Yumeng Shi, Hanxiao You, Chang Liu, Yulu Qiu, Chengyin Lv, Yujing Zhu, Lingxiao Xu, Fang Wang, Miaojia Zhang and Wenfeng Tan Tags: Research Source Type: research
NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death
Clinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2024 Category: Internal Medicine Authors: Zhong-Die Li, Yu-Chuan Li, Jing-Zhao, Jian-She Wang and Xin-Bao Xie Tags: Research Source Type: research
Correction: The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 18, 2024 Category: Internal Medicine Authors: Amira Ahmed Elfituri, Manuel Joaqu ín De Nova and Mohammadamin Najirad Tags: Correction Source Type: research
Correction to: Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 18, 2024 Category: Internal Medicine Authors: L. Johansen, F. O ’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns and K. L. Galvin Tags: Correction Source Type: research
Economic burden of patients with post-surgical chronic and transient hypoparathyroidism in the United States examined using insurance claims data
Hypoparathyroidism (HP) is a rare endocrine disease commonly caused by the removal or damage of parathyroid glands during surgery and resulting in transient (tHP) or chronic (cHP) disease. cHP is associated wi... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 18, 2024 Category: Internal Medicine Authors: Kathleen L Deering, Niccole J Larsen, Patrick Loustau, Blandine Weiss, Soraya Allas, Michael D Culler, Qing Harshaw and Deborah M. Mitchell Tags: Research Source Type: research
Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
Pregnancy and delivery outcomes in women with Fabry disease are not well described. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 18, 2024 Category: Internal Medicine Authors: Natalja Haninger-Vacariu, Kyra Anastopoulos, Christof Aigner, Raute Sunder-Plassmann, Constantin Gatterer, Markus Ponleitner, Gere Sunder-Plassmann and Alice Schmidt Tags: Research Source Type: research
Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023
Recently, Ombashi et al. published a systematic review aiming to identify the pitfalls in the development and implementation as well as factors influencing long-term success of a multidisciplinary, internation... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 17, 2024 Category: Internal Medicine Authors: Kristina Klint ö and Magnus Becker Tags: Letter to the Editor Source Type: research
A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, potentially fatal lysosomal storage disease that exhibits a broad spectrum of clinical phenotypes. There is a need to expand the knowledge of dis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 13, 2024 Category: Internal Medicine Authors: Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo and Ruth Pulikottil-Jacob Tags: Research Source Type: research
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults
This study retrospectively analyzed t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Lili Cao, Xiuxin Ling, Jianguo Yan, Danni Feng, Yi Dong, Zhiqiang Xu, Fuchuan Wang, Shishu Zhu, Yinjie Gao, Zhenhua Cao and Min Zhang Tags: Research Source Type: research
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment
Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by iduronate-2-sulfatase gene (IDS) deficiency and downstream glycosaminoglycan accumulation. Two-thirds of patients present wit... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Karen S. Yee, David Alexanderian, Susan Martin, Bimpe Olayinka-Amao and David A. H. Whiteman Tags: Research Source Type: research
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clini... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin & hellip; Tags: Research Source Type: research
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients
Primary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren and Xiangdong Kong Tags: Research Source Type: research
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
The minimal clinically important difference (MCID) is the smallest change in outcome that physicians or patients would consider meaningful and is relevant when evaluating disease progression or the efficacy of... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 11, 2024 Category: Internal Medicine Authors: Kristl G. Claeys, Hani Kushlaf, Syed Raza, Noemi Hummel, Simon Shohet, Ian Keyzor, Agnieszka Kopiec, Ryan Graham, Brian Fox and Benedikt Schoser Tags: Research Source Type: research
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study
Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypog... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 11, 2024 Category: Internal Medicine Authors: Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang and Li Liu Tags: Research Source Type: research
Diagnostic delay of sarcoidosis: an integrated systematic review
Sarcoidosis is a chronic inflammatory granulomatous disease of unknown cause. Delays in diagnosis can result in disease progression and poorer outcomes for patients. Our aim was to review the current literatur... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 11, 2024 Category: Internal Medicine Authors: Tergel Namsrai, Christine Phillips, Anne Parkinson, Dianne Gregory, Elaine Kelly, Matthew Cook and Jane Desborough Tags: Review Source Type: research
