期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background Gorham-Stout syndrome (GSS) is a rare disorder with various presentations and unpredictable prognoses. Previous understandings of GSS mainl......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder. How to stratify high risk patients is one of the current challenge......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background and aims Immunoglobulin G4-related disease (IgG4-RD) is a multisystem fibroinflammatory condition. The aim of the present study was to char......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background Rare diseases are serious and chronic diseases that affect no more than 1 person in 2000 (in European Union criteria). Patients suffering f......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Objective: This study explores and discusses the possible factors affecting the positive predictive value (PPV) of non-invasive prenatal screening (NI......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed inherited primary arrhythmia syndromes and channelopathies, which ......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background Spontaneous pneumothorax has a high incidence and high rate of recurrence in patients with lymphangioleiomyomatosis (LAM). The risk factors......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background Several retrospective studies have identified risk factors associated with ocular myasthenia gravis (OMG) generalization in non-surgical pa......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background The belief that genetics plays a major role in the pathogenesis of congenital heart defects (CHD) has grown popular among clinicians. Altho......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Objectives To review retrospectively atypical bone findings from computed tomographic (CT) imaging in patients with Erdheim-Chester disease. Methods A......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Objective Myasthenia gravis (MG) is an autoimmune disorder that frequently affects females at reproductive age. Herein, we aimed to assess the associa......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by repetitive subcutaneous or submucosal angioedema, activation......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background Information about the specific regulatory environment of orphan drugs is scarce and inconsistent. Uncertainties surrounding the postmarketi......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dube syndrome (BHDS) encountered at a Ra......
期刊： ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1)
Background Thymic neuroendocrine tumors comprise a heterogeneous group of rare diseases. This study aimed to investigate the real-world clinicopatholo......
