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  1. Cystic fibrosis (CF) has a vast and heterogeneous mutational spectrum in Europe. This variability has also been described in Spain, and there are numerous studies linking CFTR variants with the symptoms of the...

    Authors: Senay Rueda-Nieto, Pedro Mondejar-Lopez, María-Pilar Mira-Escolano, Ana Cutillas-Tolín, Luis Alberto Maceda-Roldán, Julián Jesús Arense-Gonzalo and Joaquín A. Palomar-Rodríguez
    Citation: Orphanet Journal of Rare Diseases 2022 17:222
  2. Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical mani...

    Authors: Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui and Zou Chao-Chun
    Citation: Orphanet Journal of Rare Diseases 2022 17:221
  3. Hereditary hemochromatosis (HH) is mainly caused by homozygous p.C282Y mutations in HFE in the Caucasians. We recently reported non-HFE mutations constitute the major cause of HH in Chinese. However, there is sti...

    Authors: Wei Zhang, Yanmeng Li, Anjian Xu, Qin Ouyang, Liyan Wu, Donghu Zhou, Lina Wu, Bei Zhang, Xinyan Zhao, Yu Wang, Xiaoming Wang, Weijia Duan, Qianyi Wang, Hong You, Jian Huang, Xiaojuan Ou…
    Citation: Orphanet Journal of Rare Diseases 2022 17:216
  4. Thymic neuroendocrine tumors comprise a heterogeneous group of rare diseases. This study aimed to investigate the real-world clinicopathological features and treatment outcomes of thymic neuroendocrine tumors.

    Authors: Yeye Chen, Jiaqi Zhang, Mengxin Zhou, Chao Guo and Shanqing Li
    Citation: Orphanet Journal of Rare Diseases 2022 17:215
  5. NLRP3-associated autoinflammatory disease (NLRP3-AID), caused by mutations of NLRP3, is one of the autoinflammatory diseases affecting inflammasomes. Since there are little cases of Chinese NLRP3-AID, we repor...

    Authors: Yu Zhou, Wei Wang, Linqing Zhong, Lin Wang, Mingsheng Ma, Xiaoyan Tang, Zhuo Li, Changyan Wang, Lijuan Gou, Tiannan Zhang and Hongmei Song
    Citation: Orphanet Journal of Rare Diseases 2022 17:214
  6. Meta-analysis was used to evaluate the diagnostic value of a CVR cut-off value of 1.6 for fetal hydrops due to congenital lung malformation (CLM).

    Authors: Pei Zhu, Kaisheng Cheng, Mingsheng He, Yutong Wang, Pengyue Shen, Kanglin He, Chang Xu, Ben Zhang and Zhenmi Liu
    Citation: Orphanet Journal of Rare Diseases 2022 17:213
  7. Patients’ involvement (PI) in research is recognized as a valuable strategy for increasing the quality, developing more targeted research and to speed up more innovative research dissemination. Nevertheless, p...

    Authors: Gry Velvin, Thale Hartman and Trine Bathen
    Citation: Orphanet Journal of Rare Diseases 2022 17:212
  8. In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium. In th...

    Authors: Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul J. Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud V. Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens…
    Citation: Orphanet Journal of Rare Diseases 2022 17:210
  9. Hypospadias is a congenital anomaly of the male urogenital system. Genetics factors play an important role in its pathogenesis. To search for potential causal genes/variants for hypospadias, we performed exome...

    Authors: Defu Lin, Huakang Du, Sen Zhao, Bowen Liu, Hongcheng Song, Guannan Wang, Weiping Zhang, Haiyan Liang, Pei Liu, Chao Liu, Wenwen Han, Zhenwu Li, Yang Yang, Shuofan Chen, Lina Zhao, Xiaoxin Li…
    Citation: Orphanet Journal of Rare Diseases 2022 17:209
  10. The transition of adolescents to adult care is known to be challenging. Studies indicate that patients with a chronic disease and cognitive deficits are at risk of inadequate transition to adult care, which ev...

    Authors: S. Lausdahl, M. M. Handrup, S. L. Rubak, M. D. Jensen and C. Ejerskov
    Citation: Orphanet Journal of Rare Diseases 2022 17:208
  11. After repair of esophageal atresia (EA), childhood survivors commonly present with digestive and respiratory morbidity, and around 55% have associated anomalies. Although it is known that these problems can re...

    Authors: Michaela Dellenmark-Blom, Kate Abrahamsson, Jens Dingemann, Stefanie Witt, Carmen Dingemann, Linus Jönsson, Vladimir Gatzinsky, Monika Bullinger, Benno M. Ure, John E. Chaplin and Julia H. Quitmann
    Citation: Orphanet Journal of Rare Diseases 2022 17:207
  12. GNE myopathy is a rare distal myopathy caused by mutations of the GNE gene. A few cases of GNE myopathy accompanied by neurogenic features of electrophysiology mimicking hereditary motor neuropathy were reported ...

    Authors: Xiangyi Liu, Yingshuang Zhang, Shuo Zhang, Aping Sun, Danfeng Zheng, Dongsheng Fan and Xiaoxuan Liu
    Citation: Orphanet Journal of Rare Diseases 2022 17:206
  13. Authors: Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall and Paul S. Thornton
    Citation: Orphanet Journal of Rare Diseases 2022 17:205

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:61

  14. Mitochondrial diseases represent one of the most common groups of genetic diseases. With a prevalence greater than 1 in 5000 adults, such diseases still lack effective treatment. Current therapies are purely p...

    Authors: Juan M. Suárez-Rivero, Carmen J. Pastor-Maldonado, Suleva Povea-Cabello, Mónica Álvarez-Córdoba, Irene Villalón-García, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Diana Reche-López, Paula Cilleros-Holgado, Rocío Piñero-Perez and José A. Sánchez-Alcázar
    Citation: Orphanet Journal of Rare Diseases 2022 17:204
  15. Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dubé syndrome (BHDS) encountered at a Rare Lung Disease Clinic recently established in China.

    Authors: Guofeng Zhang, Jinli Liu, Yushuo Wang, Yue Wang, Xianliang Jiang, Yan Peng, Jun Xiao, Wei Wei, Bing Shen, Long Yi, Jay H. Ryu and Xiaowen Hu
    Citation: Orphanet Journal of Rare Diseases 2022 17:203

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:312

  16. Patients with maple syrup urine disease (MSUD) experiencing metabolic decompensations have traditionally been treated with branched-chain amino acid (BCAA)-free mixture via oral or nasogastric administration r...

    Authors: Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anaïs Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Thérèse Abi-Wardé, Christine Broissand, Aude Servais, Myriam Dao and Pascale de Lonlay
    Citation: Orphanet Journal of Rare Diseases 2022 17:202
  17. The transient receptor potential cation channel subfamily V member 2 (TRPV2) is a stretch-sensitive calcium channel. TRPV2 overexpression in the sarcolemma of skeletal and cardiac myocytes causes calcium influ...

    Authors: Tsuyoshi Matsumura, Hiroya Hashimoto, Masahiro Sekimizu, Akiko M. Saito, Yasufumi Motoyoshi, Akinori Nakamura, Satoshi Kuru, Takayasu Fukudome, Kazuhiko Segawa, Toshiaki Takahashi, Takuhisa Tamura, Tetsuo Komori, Chigusa Watanabe, Masanori Asakura, Koichi Kimura and Yuko Iwata
    Citation: Orphanet Journal of Rare Diseases 2022 17:201
  18. Spinal Muscular Atrophy (SMA) is a rare, recessively inherited neuromuscular disorder that causes progressive muscle weakness. There is a low degree of awareness about SMA amongst the public and healthcare pro...

    Authors: Gaik Siew Ch’ng, Karina Koh, Azlina Ahmad-Annuar, Fahisham Taib, Cha Ling Koh and Edmund Soon Chin Lim
    Citation: Orphanet Journal of Rare Diseases 2022 17:200
  19. There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (...

    Authors: K. Savostyanov, A. Pushkov, I. Zhanin, N. Mazanova, S. Trufanov, A. Pakhomov, A. Alexeeva, D. Sladkov, A. Asanov and A. Fisenko
    Citation: Orphanet Journal of Rare Diseases 2022 17:199
  20. Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness. These two groups of pathologies are highl...

    Authors: Aymane Bouzidi, Hicham Charoute, Majida Charif, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat and Guy Lenaers
    Citation: Orphanet Journal of Rare Diseases 2022 17:197
  21. Research in a variety of countries indicates that healthcare access and health-related quality of life are challenged among people with a variety of rare diseases (RDs). However, there has been little systemat...

    Authors: Kathleen Bogart, Amanda Hemmesch, Erica Barnes, Thomas Blissenbach, Arthur Beisang and Patti Engel
    Citation: Orphanet Journal of Rare Diseases 2022 17:196
  22. Glycogen storage disease type Ib (GSD Ib) is a severe disorder of carbohydrate metabolism due to bi-allelic variants in SLC37A4. It is associated with neutropaenia and neutrophil dysfunction, which has recently b...

    Authors: Rebecca K. Halligan, R. Neil Dalton, Charles Turner, Katherine A. Lewis and Helen R. Mundy
    Citation: Orphanet Journal of Rare Diseases 2022 17:195
  23. There are scarce publications regarding the presentation and outcome of Becker muscular dystrophy in adulthood when idiopathic dilated cardiomyopathy is the initial disease manifestation. We performed a system...

    Authors: Gaspar Del Rio-Pertuz, Cristina Morataya, Kanak Parmar, Sarah Dubay and Erwin Argueta-Sosa
    Citation: Orphanet Journal of Rare Diseases 2022 17:194
  24. Lysosomal acid lipase deficiency (LALD) is an ultra-rare, inherited metabolic disease within the category of lysosomal storage disorders, affecting an infant’s ability to metabolise cholesterol. Developments i...

    Authors: S. Hassall, D. M. Smith, S. Rust, S. A. Jones and A. Wittkowski
    Citation: Orphanet Journal of Rare Diseases 2022 17:193
  25. Lymphatic malformations (LMs) represent a potentially life-threatening, rare disease of the lymphatic system characterized by development of abnormal vessels, outpouchings, or cysts filled with lymphatic fluid...

    Authors: Jack Ray Gallagher, J. Martini, S. Carroll, A. Small and J. Teng
    Citation: Orphanet Journal of Rare Diseases 2022 17:192
  26. Advances in genomic sequencing and genetic testing are increasingly transforming the diagnosis and treatment of diseases—specifically, rare diseases. However, the application and benefit of such technologies r...

    Authors: Lynsey Chediak, Nicola Bedlington, Ayesha Gadson, Alastair Kent, Aiedah Abdul Khalek, Luke Rosen, Malisa Rust, Mohd. Farooq Shaikh, Meng Yoe Tan, Samuel Agyei Wiafe, Gareth Baynam and Charles A. Steward
    Citation: Orphanet Journal of Rare Diseases 2022 17:191
  27. Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeleta...

    Authors: Martin Magner, Zsuzsanna Almássy, Zoran Gucev, Beata Kieć-Wilk, Vasilica Plaiasu, Anna Tylki-Szymańska, Dimitrios Zafeiriou, Ioannis Zaganas and Christina Lampe
    Citation: Orphanet Journal of Rare Diseases 2022 17:190
  28. Relapsing polychondritis (RP) is a rare inflammatory disease characterized by recurrent inflammation and destruction of cartilaginous tissues. RP has characteristics of autoimmune disease and some reports have...

    Authors: Toshiki Nakajima, Hajime Yoshifuji, Yoshihisa Yamano, Kimiko Yurugi, Yasuo Miura, Taira Maekawa, Tsuneyasu Yoshida, Hiroshi Handa, Koichiro Ohmura, Tsuneyo Mimori and Chikashi Terao
    Citation: Orphanet Journal of Rare Diseases 2022 17:101
  29. PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overla...

    Authors: Lara Rodríguez-Laguna, Kristen Davis, Mellenee Finger, Dawn Aubel, Robin Vlamis and Craig Johnson
    Citation: Orphanet Journal of Rare Diseases 2022 17:189
  30. Over the past decade, a new class of drugs called CFTR (cystic fibrosis transmembrane conductance regulator) modulators have shown to be able to improve clinical outcomes in patient with Cystic Fibrosis. In th...

    Authors: Enrico Costa, Silvia Girotti, Francesca Pauro, Hubert G. M. Leufkens and Marco Cipolli
    Citation: Orphanet Journal of Rare Diseases 2022 17:188
  31. In recent years, more studies have observed that patients with Prader–Willi syndrome have lower insulin levels and lower insulin resistance than body mass index-matched controls, which may suggest protected gl...

    Authors: Yanjie Qian, Fangling Xia, Yiming Zuo, Mianling Zhong, Lili Yang, Yonghui Jiang and Chaochun Zou
    Citation: Orphanet Journal of Rare Diseases 2022 17:187
  32. Design and analysis of clinical trials for rare and ultra-rare disease pose unique challenges to the practitioners. Meeting conventional power requirements is infeasible for diseases where sample sizes are inh...

    Authors: Kelley M. Kidwell, Satrajit Roychoudhury, Barbara Wendelberger, John Scott, Tara Moroz, Shaoming Yin, Madhurima Majumder, John Zhong, Raymond A. Huml and Veronica Miller
    Citation: Orphanet Journal of Rare Diseases 2022 17:186
  33. Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE i...

    Authors: Saku Pelttari, Suvi Väärämäki, Olivier Vanakker, Shana Verschuere, Hannu Uusitalo, Heini Huhtala, Tero Hinkka, Ilkka Pörsti and Pasi I. Nevalainen
    Citation: Orphanet Journal of Rare Diseases 2022 17:185
  34. People with Huntington's disease (HD) have increased functional and cognitive dependence. While numerous clinical, genetic, and therapeutic management studies have been carried out, few studies have investigat...

    Authors: Luz-Estella Varela, María-Mercedes Arias, María-Antonia Martorell-Poveda, Clara V. Giraldo and Rosa A. Estrada-Acuña
    Citation: Orphanet Journal of Rare Diseases 2022 17:184
  35. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is associated with ventricular arrhythmia, heart failure (HF), and sudden death. Thromboembolism is also an important and serious complication...

    Authors: Jia Chen, Yuting Ma, Hong Li, Zhuo Lin, Zhe Yang, Qin Zhang, Feng Wang, Yanping Lin, Zebing Ye and Yubi Lin
    Citation: Orphanet Journal of Rare Diseases 2022 17:183
  36. This study aimed to identify fit-for-purpose clinical outcome assessments (COAs) to evaluate physical function, as well as social and emotional well-being in clinical trials enrolling a pediatric population wi...

    Authors: Natalie V. J. Aldhouse, Helen Kitchen, Chloe Johnson, Chris Marshall, Hannah Pegram, Sheryl Pease, Sam Collins, Christine L. Baker, Katherine Beaverson, Chandler Crews, Jill Massey and Kathleen W. Wyrwich
    Citation: Orphanet Journal of Rare Diseases 2022 17:182
  37. Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and therapies can modify the management and the progression of dise...

    Authors: Galliano Zanello, Chun-Hung Chan and David A. Pearce
    Citation: Orphanet Journal of Rare Diseases 2022 17:181
  38. Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first ...

    Authors: Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer and Christian Beetz
    Citation: Orphanet Journal of Rare Diseases 2022 17:179
  39. Cushing’s syndrome (CS) is associated with an hypercoagulable state and an increased risk of venous thromboembolism (VTE). Evidence-based guidelines on thromboprophylaxis strategies in patients with CS are cur...

    Authors: F. M. van Haalen, M. Kaya, I. C. M. Pelsma, O. M. Dekkers, N. R. Biermasz, S. C. Cannegieter, M. V. Huisman, B. J. M. van Vlijmen, R. A. Feelders, F. A. Klok and A. M. Pereira
    Citation: Orphanet Journal of Rare Diseases 2022 17:178
  40. Pain occurs in the majority of patients with late onset Pompe disease (LOPD) and is associated with a reduced quality of life. The aim of this study was to analyse the pain characteristics and its relation to ...

    Authors: Elena K. Enax-Krumova, Iris Dahlhaus, Jonas Görlach, Kristl G. Claeys, Federica Montagnese, llka Schneider, Dietrich Sturm, Tanja Fangerau, Hannah Schlierbach, Angela Roth, Julia V. Wanschitz, Wolfgang N. Löscher, Anne-Katrin Güttsches, Stefan Vielhaber, Rebecca Hasseli, Lea Zunk…
    Citation: Orphanet Journal of Rare Diseases 2022 17:177
  41. Birt-Hogg-Dubé syndrome (BHDS) is a rare monogenic condition mostly associated with germline mutations at FLCN. It is characterized by either one or more manifestations of primary spontaneous pneumothorax (PSP), ...

    Authors: Anindita Ray, Esita Chattopadhyay, Richa Singh, Saurabh Ghosh, Arnab Bera, Mridul Sarma, Mahavir Munot, Unnati Desai, Sujeet Rajan, Pralhad Prabhudesai, Ashish K. Prakash, Sushmita Roy Chowdhury, Niladri Bhowmick, Raja Dhar, Zarir F. Udwadia, Atin Dey…
    Citation: Orphanet Journal of Rare Diseases 2022 17:176
  42. Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countri...

    Authors: Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz and Said El Shamieh
    Citation: Orphanet Journal of Rare Diseases 2022 17:175
  43. Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of c...

    Authors: Hélène Warnier, Christophe Barrea, Sarah Bethlen, Isabelle Schrouff and Julie Harvengt
    Citation: Orphanet Journal of Rare Diseases 2022 17:174
  44. Clinical outcome assessments are important tools for measuring the natural history of disease and efficacy of an intervention. The heterogenous phenotype and difficult to quantity features of Proteus syndrome ...

    Authors: Christopher A. Ours, Mia B. Hodges, Neal Oden, Julie C. Sapp and Leslie G. Biesecker
    Citation: Orphanet Journal of Rare Diseases 2022 17:173
  45. Kohlmeier-Degos (K-D) disease is a rare obliterative vasculopathy that can present as a benign cutaneous form or with potentially malignant systemic involvement. The gastrointestinal tract is most frequently i...

    Authors: Samantha S. Sattler, Cynthia M. Magro, Lee Shapiro, Jamie F. Merves, Rebecca Levy, Jesse Veenstra and Puraj Patel
    Citation: Orphanet Journal of Rare Diseases 2022 17:172
  46. Improving care coordination is particularly important for individuals with rare conditions (who may experience multiple inputs into their care, across different providers and settings). To develop and evaluate...

    Authors: Holly Walton, Amy Simpson, Angus I. G. Ramsay, Emma Hudson, Amy Hunter, Jennifer Jones, Pei Li Ng, Kerry Leeson-Beevers, Lara Bloom, Joe Kai, Larissa Kerecuk, Maria Kokocinska, Alastair G. Sutcliffe, Stephen Morris and Naomi J. Fulop
    Citation: Orphanet Journal of Rare Diseases 2022 17:171