Reisi, Nahid Raeissi, Pouran Harati Khalilabad, Touraj Moafi, Alireza
Published in
Orphanet Journal of Rare Diseases
BackgroundLangerhans cell histiocytosis (LCH) is a rare disease that originates from the uncontrolled proliferation and accumulation of bone marrow-derived immature myeloid dendritic cells. Dendritic cells are a type of histiocyte that play an important role in the human immune system and are found in the bone, skin, stomach, eyes, intestines, and ...
Terrier, Benjamin Darbon, Raphaël Durel, Cécile-Audrey Hachulla, Eric Karras, Alexandre Maillard, Hélène Papo, Thomas Puechal, Xavier Pugnet, Grégory Quemeneur, Thomas
...
Published in
Orphanet Journal of Rare Diseases
Systemic necrotizing vasculitis comprises a group of diseases resembling polyarteritis nodosa and anti-neutrophil cytoplasmic antibody-associated vasculitis (ANCA): granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis, and microscopic polyangiitis. The definitive diagnosis is made in cooperation with a reference center fo...
Pagella, Fabio Lizzio, Roberta Ugolini, Sara Spinozzi, Giuseppe Maiorano, Eugenia Suppressa, Patrizia Sabbà, Carlo Matti, Elina
Published in
Orphanet Journal of Rare Diseases
On March 11, 2020, WHO has defined the novel coronavirus disease SARS-CoV-2 (COVID-19) outbreak as a pandemic that still today continues to affect much of the world. Among the reasons for the rapid spread of SARS-CoV-2 infection, there is the role of asymptomatic or minimally symptomatic carriers. Therefore diagnostic testing is central to contain ...
Donald, Aimee Tan, Chong Y. Chakrapani, Anupam Hughes, Derralyn A. Sharma, Reena Cole, Duncan Bardins, Stanislav Gorges, Martin Jones, Simon A. Schneider, Erich
...
Published in
Orphanet Journal of Rare Diseases
BackgroundNeurological forms of Gaucher disease, the inherited disorder of β-Glucosylceramidase caused by bi-allelic variants in GBA1, is a progressive disorder which lacks a disease-modifying therapy. Systemic manifestations of disease are effectively treated with enzyme replacement therapy, however, molecules which cross the blood–brain barrier a...
Grandis, M. Obici, L. Luigetti, M. Briani, C. Benedicenti, F. Bisogni, G. Canepa, M. Cappelli, F. Danesino, C. Fabrizi, G. M.
...
Published in
Orphanet Journal of Rare Diseases
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage and death. For other late-onset fatal diseases, as Huntington’s disease, protocols for pre-symptomatic genetic testing (PST) are available si...
Rosaria, Talarico Sara, Cannizzo Valentina, Lorenzoni Diana, Marinello Ilaria, Palla Salvatore, Pirri Simone, Ticciati Leopoldo, Trieste Isotta, Triulzi Enrique, Terol
...
Published in
Orphanet Journal of Rare Diseases
BackgroundIn 2017, the European Commission has launched the European Reference Networks (ERNs), virtual networks involving healthcare providers across Europe. The aim of the ERNs is to tackle complex and rare diseases and conditions that require highly specialized treatment and a concentration of knowledge and resources. The ERN on rare and complex...
Skorczyk-Werner, Anna Niedziela, Zuzanna Stopa, Marcin Krawczyński, Maciej Robert
Published in
Orphanet Journal of Rare Diseases
BackgroundLeber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. To date, 25 genes have been implicated in the pathogenesis of LCA. As gene therapy is becoming available, the identification of potential treatment candid...
Europa, Tarin A. Nel, Melissa Heckmann, Jeannine M.
Published in
Orphanet Journal of Rare Diseases
BackgroundUnbiased in silico approaches applied to genome-wide data prioritized putative functional gene variants associating with treatment-resistant ophthalmoplegic myasthenia gravis (OP-MG). Although altered expression of genes harbouring these variants, or associated pathways, were shown in patient-derived transdifferentiated-myocyte models, ge...
Kim, Soo Yeon Shim, YoungKyu Ko, Young Joon Park, Soojin Jang, Se Song Lim, Byung Chan Kim, Ki Joong Chae, Jong-Hee
Published in
Orphanet Journal of Rare Diseases
BackgroundGNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically confirmed patients with GNAO1 encephalopathy, focusing on movement presentations.ResultsSix patients who participated in Korean Undiag...
Yu, Meng Zhu, Ying Lu, Yuanyuan Lv, He Zhang, Wei Yuan, Yun Wang, Zhaoxia
Published in
Orphanet Journal of Rare Diseases
BackgroundLaing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients with Laing distal myopathy.ResultsSix patients with the confi...
