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  1. 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

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  2. 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

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  3. 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

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  4. 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

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  5. 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

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  6. 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

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

  7. 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

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  8. 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

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  9. 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

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  10. 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

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  11. 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

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  12. 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

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  13. 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

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  14. 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

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  15. 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

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  16. 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

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  17. 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

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  18. 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

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  19. 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

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  20. 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

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  21. 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

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  22. 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

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  23. 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

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  24. 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

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  25. 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

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  26. 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

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  27. 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

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  28. 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

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  29. 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

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  30. 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

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  31. 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

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  32. 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

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  33. 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

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  34. 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

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  35. 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

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  36. 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

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  37. Rare diseases are ailments which impose a heavy burden on individual patients and global society as a whole. The rare disease management landscape is not a smooth one—a rare disease is quite often hard to diag...

    Authors: Xiaoshu Cai, Georgi Z. Genchev, Ping He, Hui Lu and Guangjun Yu

    Citation: Orphanet Journal of Rare Diseases 2021 16:262

    Content type: Research

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  38. To report Peutz–Jeghers syndrome (PJS) cases with non-definitive clues in the family or personal history and finally diagnosed through pathological examination and STK11 gene mutation test.

    Authors: Yu-Liang Jiang, Xiao-Dong Xu, Bai-Rong Li, En-Da Yu, Zi-Ye Zhao and Hong Liu

    Citation: Orphanet Journal of Rare Diseases 2021 16:261

    Content type: Research

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  39. 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

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  40. To investigate the genetic contribution of copy number variations (CNVs) in Wingless-type MMTV integration site family, member 4 (WNT4), in a Chinese population with Müllerian anomalies (MA), copy number analysis...

    Authors: Ying Zhu, Ruyi Wang, Yun Cheng, Yang Han, Tengyan Li, Yunxia Cao and Binbin Wang

    Citation: Orphanet Journal of Rare Diseases 2021 16:258

    Content type: Research

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  41. This research aimed to establish recommendations on the clinical and genetic characteristics necessary to confirm patient eligibility for gene supplementation with voretigene neparvovec.

    Authors: Andrea Sodi, Sandro Banfi, Francesco Testa, Michele Della Corte, Ilaria Passerini, Elisabetta Pelo, Settimio Rossi and Francesca Simonelli

    Citation: Orphanet Journal of Rare Diseases 2021 16:257

    Content type: Research

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  42. While therapeutic advances have significantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinic...

    Authors: Domingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, María L. Couce and Luís Aldámiz-Echevarría

    Citation: Orphanet Journal of Rare Diseases 2021 16:256

    Content type: Research

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  43. Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is ef...

    Authors: Vaneisse C. L. Monteiro, Bibiana M. de Oliveira, Bruna B. dos Santos, Fernanda Sperb-Ludwig, Lilia F. Refosco, Tatiele Nalin, Terry G. J. Derks, Carolina F. Moura de Souza and Ida V. D. Schwartz

    Citation: Orphanet Journal of Rare Diseases 2021 16:254

    Content type: Research

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  44. Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result ...

    Authors: Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila and Sarah Landis

    Citation: Orphanet Journal of Rare Diseases 2021 16:253

    Content type: Research

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  45. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu and Yuying Zhao

    Citation: Orphanet Journal of Rare Diseases 2021 16:252

    Content type: Correction

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    The original article was published in Orphanet Journal of Rare Diseases 2018 13:109

  46. The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to genera...

    Authors: Giulia Bassanese, Tanja Wlodkowski, Aude Servais, Laurence Heidet, Dario Roccatello, Francesco Emma, Elena Levtchenko, Gema Ariceta, Justine Bacchetta, Giovambattista Capasso, Augustina Jankauskiene, Marius Miglinas, Pietro Manuel Ferraro, Giovanni Montini, Jun Oh, Stephane Decramer…

    Citation: Orphanet Journal of Rare Diseases 2021 16:251

    Content type: Research

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