Orphanet Journal of Rare Diseases
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3.52
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2264
Papers 2735
1 page of 274 pages (2,735 results)
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#2Stanislav V. Yuzhakov (Mayo Clinic)H-Index: 1
Last. John C. LieskeH-Index: 66
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#1Julio López-Bastida (UCLM: University of Castilla–La Mancha)H-Index: 14
#2Isaac Aranda-Reneo (UCLM: University of Castilla–La Mancha)H-Index: 8
Last. M. A. J. van de Sande (LUMC: Leiden University Medical Center)H-Index: 15
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BACKGROUND Tenosynovial Giant-Cell Tumour (TGCT) is a benign clonal neoplastic proliferation arising from the synovium, causing a variety of symptoms and often requiring repetitive surgery. This study aims to define the economic burden-from a societal perspective-associated with TGCT patients and their health-related quality of life (HRQOL) in six European countries. METHODS This article analyses data from a multinational, multicentre, prospective observational registry, the TGCT Observational P...
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#1Xinyue Zhao (Peking Union Medical College)H-Index: 2
#2Chun Bian (Peking Union Medical College Hospital)H-Index: 1
Last. Xue Zhang (Peking Union Medical College)H-Index: 34
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BACKGROUND Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some methods for diagnosis, such as nasal nitric oxide measurement and digital high-speed video microscopy with ciliary beat pattern analysis, can be expensive or unavailable. To confirm PCD diagnosis, we used a strate...
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Background null We investigated pathogenic DYRK1B variants causative of abdominal obesity-metabolic syndrome 3 (AOMS3) in a group of patients originally diagnosed with type 2 diabetes. All DYRK1B exons were analyzed in a sample of 509 unrelated adults with type 2 diabetes and 459 controls, all belonging to the DMS1 SIGMA-cohort (ExAC). We performed in silico analysis on missense variants using Variant Effect Predictor software. To evaluate co-segregation, predicted pathogenic variants were genot...
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#1Bettina M. Zimmermann (TUM: Technische Universität München)H-Index: 5
#2Johanna Eichinger (TUM: Technische Universität München)H-Index: 1
Last. Matthias R. Baumgartner (UZH: University of Zurich)H-Index: 53
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The number of market approvals of orphan medicinal products (OMPs) has been increasing steadily in the last 3 decades. While OMPs can offer a unique chance for patients suffering from rare diseases, they are usually very expensive. The growing number of approved OMPs increases their budget impact despite their low prevalence, making it pressing to find solutions to ethical challenges on how to fairly allocate scarce healthcare resources under this context. One potential solution could be to gran...
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#1Lisanne M. A. Janssen (Tilburg University)H-Index: 4
#2Kim van den Akker (Radboud University Nijmegen)
Last. Esther de Vries (Bosch)H-Index: 20
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BACKGROUND Patients with predominantly (primary) antibody deficiencies (PADs) commonly develop recurrent respiratory infections which can lead to bronchiectasis, long-term morbidity and increased mortality. Recognizing symptoms and making a diagnosis is vital to enable timely treatment. Studies on disease presentation have mainly been conducted using medical files rather than direct contact with PAD patients. Our study aims to analyze how patients appraised their symptoms and which factors were ...
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#1Moussab Tatfi (French Institute of Health and Medical Research)H-Index: 1
#2Emeline Perthame (Pasteur Institute)H-Index: 4
Last. Felipe Suarez (University of Paris)H-Index: 55
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Background null Epstein-Barr virus (EBV) targets B-cells where it establishes a latent infection. EBV can transform B-cells in vitro and is recognized as an oncogenic virus, especially in the setting of immune compromise. Indeed, immunodeficient patients may fail to control chronic EBV infection, leading to the development EBV-driven lymphoid malignancies. Ataxia telangiectasia (AT) is a primary immune deficiency caused by mutations in the ATM gene, involved in the repair of double-strand breaks...
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#1Jing Sun (Southern Medical University)
#2Xuan Zhou (Southern Medical University)
Last. Nan Hu (Bayer USA: Bayer Corporation)
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BACKGROUND Despite the advantages of prophylactic treatment for hemophilia, patients tend to discontinue or not adhere to it because of several challenges such as long-term use, high cost, young patients transitioning to adolescents, and switch to self-infusion or self-care. The goal of this systematic literature review is to emphasize adherence to and efficiency of prophylactic treatment in adults. METHODS A literature review was conducted in PubMed, Embase, and Cochrane databases until April 2...
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#1Ewelina Bukowska-Olech (Poznan University of Medical Sciences)H-Index: 2
#2Pawel GawlinskiH-Index: 8
Last. Aleksander Jamsheer (Poznan University of Medical Sciences)H-Index: 15
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BACKGROUND Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the EFNB1 gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygous males. RESULTS We have recruited and screened a female cohort affected with CFNS. Our primary finding was the description of monozygotic twins, i.e., patients 5 and 6, discordant for the CFNS phenotype. Intriguingly, patient 5 presented classical CFNS gest...
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#1Alaa Hamed (Genzyme)H-Index: 6
#2Pronabesh DasMahapatra (Genzyme)H-Index: 2
Last. Robert J. Hopkin (Cincinnati Children's Hospital Medical Center)H-Index: 42
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BACKGROUND The systematic collection of disease-specific symptoms and impacts on the lives of patients with Fabry Disease (FD) can offer unique insights into the patient experience, yet no disease-specific tool to measure FD symptoms exists. This study describes the development of the Fabry Disease Patient-Reported Outcome (FD-PRO). METHODS A targeted literature search, interviews with key opinion leaders (KOLs), and concept elicitation (CE) interviews with patients identified the most frequent ...
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