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  1. To evaluate the clinical efficacy of haploidentical haematopoietic stem cell transplantation (haplo-HSCT) for the treatment of malignant infantile osteopetrosis (MIOP) and intermediate osteopetrosis.

    Authors: Guanghua Zhu, Ang Wei, Bin Wang, Jun Yang, Yan Yan, Kai Wang, Chenguang Jia, Yanhui Luo, Sidan Li, Xuan Zhou, Tianyou Wang, Huyong Zheng and Maoquan Qin
    Citation: Orphanet Journal of Rare Diseases 2021 16:314
    Content type: Research Published on:

  2. The diagnostic odyssey for people with a rare disease is well known, but difficulties do not stop at diagnosis. Here we investigate the experience of people, or parents of children with a diagnosed mitochondri...

    Authors: Janet C. Long, Stephanie Best, Sarah Hatem, Tahlia Theodorou, Toni Catton, Sean Murray, Jeffrey Braithwaite and John Christodoulou
    Citation: Orphanet Journal of Rare Diseases 2021 16:310
    Content type: Research Published on:

  3. The growing use of Electronic Health Records (EHRs) is promoting the application of data mining in health-care. A promising use of big data in this field is to develop models to support early diagnosis and to ...

    Authors: Tommaso Lo Barco, Mathieu Kuchenbuch, Nicolas Garcelon, Antoine Neuraz and Rima Nabbout
    Citation: Orphanet Journal of Rare Diseases 2021 16:309
    Content type: Research Published on:

  4. Treatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. Reasons for this include lack of financial support for therapies and onerous regulatory requirements f...

    Authors: William A. Gahl, Durhane Wong-Rieger, Virginie Hivert, Rachel Yang, Galliano Zanello and Stephen Groft
    Citation: Orphanet Journal of Rare Diseases 2021 16:308
    Content type: Research Published on:

  5. SLC39A8, a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense vari...

    Authors: Eleonora Bonaventura, Rita Barone, Luisa Sturiale, Rosa Pasquariello, Maria Grazia Alessandrì, Anna Maria Pinto, Alessandra Renieri, Celeste Panteghini, Barbara Garavaglia, Giovanni Cioni and Roberta Battini
    Citation: Orphanet Journal of Rare Diseases 2021 16:307
    Content type: Research Published on:

  6. PIK3CA-related disorders include vascular malformations and overgrowth of various tissues that are caused by postzygotic, somatic variants in the gene encoding phosphatidylinositol-3-kinase (PI3K) catalytic subun...

    Authors: Guillaume Canaud, Adrienne M. Hammill, Denise Adams, Miikka Vikkula and Kim M. Keppler-Noreuil
    Citation: Orphanet Journal of Rare Diseases 2021 16:306
    Content type: Review Published on:

  7. Adolescents with idiopathic scoliosis display high ghrelin levels. As hyperghrelinemia is found in patients with PWS and early-onset scoliosis (EOS) is highly prevalent in these patients, our aims were to expl...

    Authors: Dibia Liz Pacoricona Alfaro, Gwenaelle Diene, Graziella Pinto, Jean-Pierre Salles, Isabelle Gennero, Sandy Faye, Catherine Molinas, Marion Valette, Catherine Arnaud and Maithé Tauber
    Citation: Orphanet Journal of Rare Diseases 2021 16:305
    Content type: Research Published on:

  8. Rare neuromuscular diseases such as spinal muscular atrophy, spinal bulbar muscular atrophy, muscular dystrophy, Charcot-Marie-Tooth disease, distal myopathy, sporadic inclusion body myositis, congenital myopa...

    Authors: Takashi Nakajima, Yoshiyuki Sankai, Shinjiro Takata, Yoko Kobayashi, Yoshihito Ando, Masanori Nakagawa, Toshio Saito, Kayoko Saito, Chiho Ishida, Akira Tamaoka, Takako Saotome, Tetsuo Ikai, Hisako Endo, Kazuhiro Ishii, Mitsuya Morita, Takashi Maeno…
    Citation: Orphanet Journal of Rare Diseases 2021 16:304
    Content type: Research Published on:

  9. RASopathies are a group of syndromes showing clinical overlap caused by mutations in genes affecting the RAS-MAPK pathway. Consequent disruption on cellular signaling leads and is driven by phosphoproteome rem...

    Authors: Javier-Fernando Montero-Bullón, Óscar González-Velasco, María Isidoro-García and Jesus Lacal
    Citation: Orphanet Journal of Rare Diseases 2021 16:303
    Content type: Research Published on:

  10. Birt–Hogg–Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, ...

    Authors: Elżbieta Radzikowska, Urszula Lechowicz, Jolanta Winek and Lucyna Opoka
    Citation: Orphanet Journal of Rare Diseases 2021 16:302
    Content type: Research Published on:

  11. Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and mino...

    Authors: Matthias Sauter, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson…
    Citation: Orphanet Journal of Rare Diseases 2021 16:301
    Content type: Research Published on:

  12. Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease which results in severely impaired physical and mental development. Mutations in one of five genes involved in plasmalogen biosynt...

    Authors: Tarik Luisman, Tara Smith, Shawn Ritchie and Karen E. Malone
    Citation: Orphanet Journal of Rare Diseases 2021 16:300
    Content type: Research Published on:

  13. To evaluate the efficacy and safety of everolimus and sirolimus in patients with tuberous sclerosis complex-associated angiomyolipomas (TSC-AML).

    Authors: Cong Luo, Yu-Shi Zhang, Ming-Xin Zhang, Min-Feng Chen, Yuan Li, Lin Qi, Han-Zhong Li, Xiong-Bin Zu and Yi Cai
    Citation: Orphanet Journal of Rare Diseases 2021 16:299
    Content type: Research Published on:

  14. Bronchoalveolar lavage (BAL) is one of the fundamental examinations for the differential diagnosis of interstitial lung diseases (ILDs), and lymphocytosis strongly indicates alternative diagnoses rather than i...

    Authors: Yasushi Horimasu, Kakuhiro Yamaguchi, Shinjiro Sakamoto, Takeshi Masuda, Shintaro Miyamoto, Taku Nakashima, Hiroshi Iwamoto, Kazunori Fujitaka, Hironobu Hamada and Noboru Hattori
    Citation: Orphanet Journal of Rare Diseases 2021 16:298
    Content type: Research Published on:

  15. Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causin...

    Authors: Gilyazetdinov Kamil, Ju Young Yoon, Sukdong Yoo and Chong Kun Cheon
    Citation: Orphanet Journal of Rare Diseases 2021 16:297
    Content type: Research Published on:

  16. Autoimmune polyendocrine syndrome type 1 (APS1) is a hereditary disease caused by mutations in the AIRE gene with both endocrine and non-endocrine organ involvement. The existing data from China are limited, and ...

    Authors: Ya-Bing Wang, Ou Wang, Min Nie, Yan Jiang, Mei Li, Wei-Bo Xia and Xiao-Ping Xing
    Citation: Orphanet Journal of Rare Diseases 2021 16:296
    Content type: Research Published on:

  17. No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. In animal and cell models ketones decrease oxidative stress, increase antioxidants and scavenge ...

    Authors: Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen and Saskia B. Wortmann
    Citation: Orphanet Journal of Rare Diseases 2021 16:295
    Content type: Review Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:397

  18. 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 ...

    Authors: J. Lopez-Bastida, I. Aranda-Reneo, B. Rodríguez-Sánchez, L. M. Peña-Longobardo, X. Ye, P. Laeis, E. M. Fronk, E. Palmerini, A. Leithner and M. A. J. Van de Sande
    Citation: Orphanet Journal of Rare Diseases 2021 16:294
    Content type: Research Published on:

  19. 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...

    Authors: Xinyue Zhao, Chun Bian, Keqiang Liu, Wenshuai Xu, Yaping Liu, Xinlun Tian, Jing Bai, Kai-Feng Xu and Xue Zhang
    Citation: Orphanet Journal of Rare Diseases 2021 16:293
    Content type: Research Published on:

  20. 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 u...

    Authors: Bettina M. Zimmermann, Johanna Eichinger and Matthias R. Baumgartner
    Citation: Orphanet Journal of Rare Diseases 2021 16:292
    Content type: Review Published on:

  21. 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 ...

    Authors: Elvia C. Mendoza-Caamal, Francisco Barajas-Olmos, Elaheh Mirzaeicheshmeh, Ian Ilizaliturri-Flores, Carlos A. Aguilar-Salinas, Donaji V. Gómez-Velasco, Isabel Cicerón-Arellano, Adriana Reséndiz-Rodríguez, Angélica Martínez-Hernández, Cecilia Contreras-Cubas, Sergio Islas-Andrade, Carlos Zerrweck, Humberto García-Ortiz and Lorena Orozco
    Citation: Orphanet Journal of Rare Diseases 2021 16:291
    Content type: Research Published on:

  22. Dercum’s disease (DD) and Roch-Leri mesosomatic lipomatosis (LMS) are rare and poorly characterized diseases. The clinical presentation combines multiple lipomas, painful in DD in contrast with LMS, without li...

    Authors: Madleen Lemaitre, Benjamin Chevalier, Arnaud Jannin, Kristell Le Mapihan, Samuel Boury, Georges Lion, Myriam Labalette and Marie-Christine Vantyghem
    Citation: Orphanet Journal of Rare Diseases 2021 16:290
    Content type: Research Published on:

  23. Patients with predominantly (primary) antibody deficiencies (PADs) commonly develop recurrent respiratory infections which can lead to bronchiectasis, long-term morbidity and increased mortality. Recognizing s...

    Authors: Lisanne M. A. Janssen, Kim van den Akker, Mohamed A. Boussihmad and Esther de Vries
    Citation: Orphanet Journal of Rare Diseases 2021 16:289
    Content type: Research Published on:

  24. 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. Ind...

    Authors: Moussab Tatfi, Emeline Perthame, Kenzo-Hugo Hillion, Marie-Agnès Dillies, Hervé Menager, Olivier Hermine and Felipe Suarez
    Citation: Orphanet Journal of Rare Diseases 2021 16:288
    Content type: Research Published on:

  25. 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...

    Authors: Jing Sun, Xuan Zhou and Nan Hu
    Citation: Orphanet Journal of Rare Diseases 2021 16:287
    Content type: Review Published on:

  26. 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 fem...

    Authors: Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska and Aleksander Jamsheer
    Citation: Orphanet Journal of Rare Diseases 2021 16:286
    Content type: Research Published on:

  27. 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 measur...

    Authors: Alaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, Chad Gwaltney and Robert J. Hopkin
    Citation: Orphanet Journal of Rare Diseases 2021 16:285
    Content type: Research Published on:

  28. Collagen VI-related dystrophy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy. This disease is caused by causative variants in COL6A1, COL6A2, or COL6A3. Mo...

    Authors: Michio Inoue, Yoshihiko Saito, Takahiro Yonekawa, Megumu Ogawa, Aritoshi Iida, Ichizo Nishino and Satoru Noguchi
    Citation: Orphanet Journal of Rare Diseases 2021 16:284
    Content type: Research Published on:

  29. We aimed to identify healthcare needs, expectations, utilization, and the experienced treatment effects in a population of Dutch patients with hereditary spastic paraplegia (HSP).

    Authors: Hans C. J. W. Kerstens, Bas J. H. Van Lith, Maarten J. Nijkrake, Bert J. M. De Swart, Laura A. C. Van den Bemd, Rob J. E. M. Smeets, Fheodoroff Klemens, Bart P. C. Van de Warrenburg, Philip J. Van der Wees and Alexander C. H. Geurts
    Citation: Orphanet Journal of Rare Diseases 2021 16:283
    Content type: Research Published on:

  30. Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-d...

    Authors: Janina Grau, Johann Philipp Zöllner, Susanne Schubert-Bast, Gerhard Kurlemann, Christoph Hertzberg, Adelheid Wiemer-Kruel, Thomas Bast, Astrid Bertsche, Ulrich Bettendorf, Barbara Fiedler, Andreas Hahn, Hans Hartmann, Frauke Hornemann, Ilka Immisch, Julia Jacobs, Matthias Kieslich…
    Citation: Orphanet Journal of Rare Diseases 2021 16:282
    Content type: Research Published on:

  31. Hemophagocytic lymphohistiocytosis during pregnancy is rare; it is often misdiagnosed, resulting in a high maternal and foetal mortality rate. Herein, based on limited case reports including antepartum and pos...

    Authors: Lidong Liu, Yutong Cui, Qiongjie Zhou, Huanqiang Zhao and Xiaotian Li
    Citation: Orphanet Journal of Rare Diseases 2021 16:281
    Content type: Review Published on:

  32. Antiphospholipid Syndrome (APS) is a rare autoimmune disorder with an estimated prevalence of 40–50 cases per 100.000 persons. Patients suffering from low prevalence diseases are more likely to face diagnostic...

    Authors: Massimo Radin, Silvia Grazietta Foddai, Alice Barinotti, Irene Cecchi, Elena Rubini, Savino Sciascia and Dario Roccatello
    Citation: Orphanet Journal of Rare Diseases 2021 16:280
    Content type: Research Published on:

  33. Lymphangioleiomyomatosis (LAM) is a rare multisystem disease characterized by cystic lung disease and extrapulmonary manifestations, including lymphatic system disorder. The objective of this study was to inve...

    Authors: Guozhu Hou, Yuanyuan Jiang, Wenshuai Xu, Zhaohui Zhu, Li Huo, Xiaoyuan Chen, Fang Li, Kai-Feng Xu and Wuying Cheng
    Citation: Orphanet Journal of Rare Diseases 2021 16:279
    Content type: Research Published on:

  34. Consanguineous families have a relatively high prevalence of genetic disorders caused by bi-allelic mutations in recessive genes. This study aims to evaluate the effectiveness and efficiency of a consanguinity...

    Authors: Ren-Juan Shen, Jun-Gang Wang, Yang Li and Zi-Bing Jin
    Citation: Orphanet Journal of Rare Diseases 2021 16:278
    Content type: Research Published on:

  36. Overweight and obesity are common features of the rare disease Bardet–Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in th...

    Authors: Jeremy Pomeroy, Jeffrey J. VanWormer, Jill R. Meilahn, Tara Maki, Hema R. Murali and Robert M. Haws
    Citation: Orphanet Journal of Rare Diseases 2021 16:276
    Content type: Research Published on:

  37. Rare diseases (RDs) encompass a heterogeneous group of life-threatening or chronically debilitating conditions that individually affect a small number of subjects but overall represent a major public health is...

    Authors: Francesca Gorini, Alessio Coi, Lorena Mezzasalma, Silvia Baldacci, Anna Pierini and Michele Santoro
    Citation: Orphanet Journal of Rare Diseases 2021 16:275
    Content type: Research Published on:

  38. This observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis.

    Authors: Jiao Zhang, Xulei Cui, Si Chen, Yi Dai, Yuguang Huang and Shuyang Zhang
    Citation: Orphanet Journal of Rare Diseases 2021 16:274
    Content type: Research Published on:

  39. The differential diagnosis of diffuse cystic lung disease (DCLD) is a clinical challenge. We wish to analyze the distribution of the etiology of DCLD based on data from a single lymphangioleiomyomatosis (LAM) ...

    Authors: Han Cui, Chongsheng Cheng, Wenshuai Xu, Xinlun Tian, Yanli Yang, Yani Wang, Jiannan Huang, Yudi He, Jun Wang, Ruie Feng, Weihong Zhang and Kai-Feng Xu
    Citation: Orphanet Journal of Rare Diseases 2021 16:273
    Content type: Research Published on:

  40. Langerhans cell histiocytosis (LCH) is a rare neoplastic disease that occurs in both children and adults, and BRAF V600E is detected in up to 64% of the patients. Several studies have discussed the associations b...

    Authors: Shunqiao Feng, Lin Han, Mei Yue, Dixiao Zhong, Jing Cao, Yibing Guo, Yanling Sun, Hao Zhang, Zhenhua Cao, Xiaodai Cui and Rong Liu
    Citation: Orphanet Journal of Rare Diseases 2021 16:272
    Content type: Research Published on:

  41. Severe epidermolysis bullosa simplex (EBS sev) is a rare genodermatosis characterized by congenital generalized blistering and mucosal involvement. Increased needs and decreased intake quickly lead to nutritio...

    Authors: M. Marro, S. De Smet, D. Caldari, C. Lambe, S. Leclerc-Mercier and C. Chiaverini
    Citation: Orphanet Journal of Rare Diseases 2021 16:271
    Content type: Letter to the Editor Published on:

  42. To evaluate the safety and preliminary efficacy of topical rVA576, a dual inhibitor of complement component 5 (C5) and leukotriene B4 (LTB4), in patients with recalcitrant atopic keratoconjunctivitis (AKC) in ...

    Authors: Sara Sánchez-Tabernero, Julia Fajardo-Sanchez, Wynne Weston-Davies, Mohit Parekh, Jaime Kriman, Stephen Kaye and Sajjad Ahmad
    Citation: Orphanet Journal of Rare Diseases 2021 16:270
    Content type: Letter to the Editor Published on:

  43. We intended to investigate the clinical features of paediatric patients with chronic active Epstein–Barr virus infection (CAEBV) and to examine the effectiveness of the L-DEP regimen before haematopoietic stem...

    Authors: Honghao Ma, Liping Zhang, Ang Wei, Jun Yang, Dong Wang, Qing Zhang, Yunze Zhao, Sitong Chen, Hongyun Lian, Li Zhang, Chunju Zhou, Maoquan Qin, Zhigang Li, Tianyou Wang and Rui Zhang
    Citation: Orphanet Journal of Rare Diseases 2021 16:269
    Content type: Research Published on:

  44. Dozens of genes are involved in 46, XY differences in sex development (DSD). Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene variant identified cannot fully explain the cl...

    Authors: Yiping Cheng, Jing Chen, Xinli Zhou, Jiangfei Yang, Yiming Ji and Chao Xu
    Citation: Orphanet Journal of Rare Diseases 2021 16:268
    Content type: Research Published on:

  45. Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients’ genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase ...

    Authors: Pascal Brouillard, Matthieu J. Schlögel, Nassim Homayun Sepehr, Raphaël Helaers, Angela Queisser, Elodie Fastré, Simon Boutry, Sandra Schmitz, Philippe Clapuyt, Frank Hammer, Anne Dompmartin, Annamaria Weitz-Tuoretmaa, Jussi Laranne, Louise Pasquesoone, Catheline Vilain, Laurence M. Boon…
    Citation: Orphanet Journal of Rare Diseases 2021 16:267
    Content type: Research Published on:

  46. Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly...

    Authors: Juan González-Moreno, Aina Gaya-Barroso, Inés Losada-López, Adrián Rodríguez, Teresa Bosch-Rovira, Tomás Ripoll-Vera, Mercedes Usón, Antoni Figuerola, Cristina Descals, Carles Montalà, María Asunción Ferrer-Nadal and Eugenia Cisneros-Barroso
    Citation: Orphanet Journal of Rare Diseases 2021 16:266
    Content type: Research Published on:

  47. Orphan drug designations are a useful proxy to investigate trends in rare disease drug development. Drug developers must receive a designation before they are eligible for the economic incentives of the Orphan...

    Authors: Kathleen L. Miller, Lewis J. Fermaglich and Janet Maynard
    Citation: Orphanet Journal of Rare Diseases 2021 16:265
    Content type: Research Published on:

  48. Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms ...

    Authors: Chad Gwaltney, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love and Alan Shields
    Citation: Orphanet Journal of Rare Diseases 2021 16:264
    Content type: Research Published on:

  50. Kaposiform lymphangiomatosis (KLA), which is a new subtype of generalized lymphatic anomaly, is a rare disease with a poor prognosis. Currently, there is no standard treatment due to the poor understanding of ...

    Authors: Jiangyuan Zhou, Kaiying Yang, Siyuan Chen and Yi Ji
    Citation: Orphanet Journal of Rare Diseases 2021 16:260
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172