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  1. Duchenne Muscular Dystrophy (DMD) is a rapidly progressive, lethal neuromuscular disorder, present from birth, which occurs almost exclusively in males. We have reviewed contemporary evidence of burden, epidem...

    Authors: S. Ryder, R. M. Leadley, N. Armstrong, M. Westwood, S. de Kock, T. Butt, M. Jain and J. Kleijnen
    Citation: Orphanet Journal of Rare Diseases 2017 12:79
  2. Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic moveme...

    Authors: Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker and Inga Harting
    Citation: Orphanet Journal of Rare Diseases 2017 12:77
  3. Rare conditions can be catastrophic for families and the implications for public health can be substantial. Our study compared basic surveillance through active medical record review with a linked administrati...

    Authors: Michael G. Smith, Julie Royer, Joshua Mann, Suzanne McDermott and Rodolfo Valdez
    Citation: Orphanet Journal of Rare Diseases 2017 12:76
  4. The introduction of the orphan drug legislation led to the increase in the number of available orphan drugs, but the access to them is often limited due to the high price. Social preferences regarding funding ...

    Authors: Daria Korchagina, Aurelie Millier, Anne-Lise Vataire, Samuel Aballea, Bruno Falissard and Mondher Toumi
    Citation: Orphanet Journal of Rare Diseases 2017 12:75
  5. Lymphangioleiomyomatosis (LAM) is included within group 5 of the current PH classification (unclear multifactorial mechanisms). However, data regarding the occurrence of PH in LAM are scarce. The aims of the s...

    Authors: Carolina S. G. Freitas, Bruno G. Baldi, Carlos Jardim, Mariana S. Araujo, Juliana Barbosa Sobral, Gláucia I. Heiden, Ronaldo A. Kairalla, Rogério Souza and Carlos R. R. Carvalho
    Citation: Orphanet Journal of Rare Diseases 2017 12:74
  6. Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a ...

    Authors: Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg…
    Citation: Orphanet Journal of Rare Diseases 2017 12:73
  7. Graves’ orbitopathy (GO) is an autoimmune condition, which is associated with poor clinical outcomes including impaired quality of life and socio-economic status. Current evidence suggests that the incidence o...

    Authors: P. Perros, L. Hegedüs, L. Bartalena, C. Marcocci, G. J. Kahaly, L. Baldeschi, M. Salvi, J. H. Lazarus, A. Eckstein, S. Pitz, K. Boboridis, P. Anagnostis, G. Ayvaz, A. Boschi, T. H. Brix, N. Currò…
    Citation: Orphanet Journal of Rare Diseases 2017 12:72
  8. Patients’ stories of their illnesses help bridge the divide between patients and providers, facilitating more humane medical care. Illness narratives have been classified into three types: restitution (expecta...

    Authors: Rebecca C. Spillmann, Allyn McConkie-Rosell, Loren Pena, Yong-Hui Jiang, Kelly Schoch, Nicole Walley, Camilla Sanders, Jennifer Sullivan, Stephen R. Hooper and Vandana Shashi
    Citation: Orphanet Journal of Rare Diseases 2017 12:71
  9. We have recently published on the limited effectiveness of sirolimus as a treatment option for hypoglycaemia as a consequence of hyperinsulinism. Our data oppose the view that mTOR inhibitors provide new oppor...

    Authors: Indraneel Banerjee, Diva De Leon and Mark J. Dunne
    Citation: Orphanet Journal of Rare Diseases 2017 12:70
  10. Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues.

    Authors: Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi and Marco Crimi
    Citation: Orphanet Journal of Rare Diseases 2017 12:69
  11. Children and families living with rare disease often experience significant health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be constant, regardless of the specific rare dise...

    Authors: Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard and Elizabeth J Elliott
    Citation: Orphanet Journal of Rare Diseases 2017 12:68
  12. Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearl...

    Authors: C. A. Wijngaarde, A. C. Blank, M. Stam, R. I. Wadman, L. H. van den Berg and W. L. van der Pol
    Citation: Orphanet Journal of Rare Diseases 2017 12:67
  13. Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) ...

    Authors: Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran and Tahir Sultan Shamsi
    Citation: Orphanet Journal of Rare Diseases 2017 12:66
  14. Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throug...

    Authors: Valerie Natale and Hayley Raquer
    Citation: Orphanet Journal of Rare Diseases 2017 12:65
  15. In the European Union (EU) and United States (US), specific regulations have been released to provide incentives to develop and sell orphan medicinal products.

    Authors: Viviana Giannuzzi, Rosa Conte, Annalisa Landi, Serena Antonella Ottomano, Donato Bonifazi, Paola Baiardi, Fedele Bonifazi and Adriana Ceci
    Citation: Orphanet Journal of Rare Diseases 2017 12:64
  16. Rare diseases collectively exert a global public health burden in the severity of their manifestations and the total number of people they afflict. For many patients, considerable barriers exist in terms of ac...

    Authors: Safiyya Dharssi, Durhane Wong-Rieger, Matthew Harold and Sharon Terry
    Citation: Orphanet Journal of Rare Diseases 2017 12:63
  17. Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically ...

    Authors: Jun-Kai Yan, Ke-Jun Zhou, Jian-Hu Huang, Qing-Qing Wu, Tian Zhang, Chao-Chen Wang and Wei Cai
    Citation: Orphanet Journal of Rare Diseases 2017 12:62
  18. Hereditary hemorrhagic telangiectasia (HHT) poses substantial burdens due to nosebleeds and iron deficiency resulting from recurrent hemorrhagic iron losses. Recent studies by our group found surprising links ...

    Authors: Helen Finnamore, B. Maneesha Silva, B. Mary Hickson, Kevin Whelan and Claire L. Shovlin
    Citation: Orphanet Journal of Rare Diseases 2017 12:60
  19. Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most com...

    Authors: Jinrong Liu, Yun Peng, Nan Zhou, Xiaorong Liu, Qun Meng, Hui Xu and Shunying Zhao
    Citation: Orphanet Journal of Rare Diseases 2017 12:58
  20. Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships to produc...

    Authors: Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C. Lemos, Vassos Neocleous, Marek Niedziela…
    Citation: Orphanet Journal of Rare Diseases 2017 12:57
  21. With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.T...

    Authors: M. Kourime, J. Bryce, J. Jiang, R. Nixon, M. Rodie and S.F. Ahmed
    Citation: Orphanet Journal of Rare Diseases 2017 12:56
  22. With a potentially early onset, hereditary angioedema (HAE) requires special knowledge also in infancy and early childhood. In children from families with HAE, the diagnosis should be confirmed or refuted earl...

    Authors: Anne Aabom, Klaus E. Andersen, Christina Fagerberg, Niels Fisker, Marianne A. Jakobsen and Anette Bygum
    Citation: Orphanet Journal of Rare Diseases 2017 12:55
  23. Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians’ def...

    Authors: Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano and Isabelle Koné-Paut
    Citation: Orphanet Journal of Rare Diseases 2017 12:54
  24. Although currently misclassified in the International Classification of Diseases (ICD) and still not officially listed as a rare disease, anaphylaxis is a well-known clinical emergency. Anaphylaxis is now one ...

    Authors: Luciana Kase Tanno, Robert J. G. Chalmers, Moises A. Calderon, Ségolène Aymé and Pascal Demoly
    Citation: Orphanet Journal of Rare Diseases 2017 12:53
  25. Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal...

    Authors: Benedikt Schoser, Edward Fong, Tarekegn Geberhiwot, Derralynn Hughes, John T. Kissel, Shyam C. Madathil, David Orlikowski, Michael I. Polkey, Mark Roberts, Harm A. W. M. Tiddens and Peter Young
    Citation: Orphanet Journal of Rare Diseases 2017 12:52
  26. Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the body. Dysregulation of the mammalian target of rapamycin (mTOR) pathway is impl...

    Authors: David N. Franz and Jamie K. Capal
    Citation: Orphanet Journal of Rare Diseases 2017 12:51
  27. Rare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research a...

    Authors: Lieven Annemans, Ségolène Aymé, Yann Le Cam, Karen Facey, Penilla Gunther, Elena Nicod, Michele Reni, Jean-Louis Roux, Michael Schlander, David Taylor, Carlo Tomino, Josep Torrent-Farnell, Sheela Upadhyaya, Adam Hutchings and Lugdivine Le Dez
    Citation: Orphanet Journal of Rare Diseases 2017 12:50
  28. The PGC-1α/PPAR axis has been proposed as a potential therapeutic target for several metabolic disorders. The aim was to evaluate the efficacy of the pan-PPAR agonist, bezafibrate, in tafazzin knockdown mice (...

    Authors: Yan Huang, Corey Powers, Victoria Moore, Caitlin Schafer, Mindong Ren, Colin K. L. Phoon, Jeanne F. James, Alexander V. Glukhov, Sabzali Javadov, Frédéric M. Vaz, John L. Jefferies, Arnold W. Strauss and Zaza Khuchua
    Citation: Orphanet Journal of Rare Diseases 2017 12:49
  29. Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved ...

    Authors: Chris Stinton, Julia Geppert, Karoline Freeman, Aileen Clarke, Samantha Johnson, Hannah Fraser, Paul Sutcliffe and Sian Taylor-Phillips
    Citation: Orphanet Journal of Rare Diseases 2017 12:48
  30. Sapropterin dihydrochloride, a synthetic formulation of BH4, the cofactor for phenylalanine hydroxylase (PAH, EC 1.14.16.1), was initially approved in Europe only for patients ≥4 years with BH4-responsive phenylk...

    Authors: Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Corinne De Laet, Vincenzo Leuzzi, Frank Rutsch, H. Serap Sivri, Suresh Vijay, Milva Orquidea Bal, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelie S. Lotz-Havla, Alain Munafo, Diane R. Mould…
    Citation: Orphanet Journal of Rare Diseases 2017 12:47
  31. Treatment of Robin sequence is often either invasive or of unproven effectiveness. The pre-epiglottic baton plate (PEBP) is a well-studied alternative, yet is not widely applied internationally. We report on a...

    Authors: Christian F. Poets, Christoph Maas, Wolfgang Buchenau, Joerg Arand, Anne Vierzig, Bert Braumann and Silvia Müller-Hagedorn
    Citation: Orphanet Journal of Rare Diseases 2017 12:46
  32. North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. A...

    Authors: Martje E. van Egmond, Amerins Weijenberg, Margreet E. van Rijn, Jan Willem J. Elting, Jeannette M. Gelauff, Rodi Zutt, Deborah A. Sival, Roald A. Lambrechts, Marina A. J. Tijssen, Oebele F. Brouwer and Tom J. de Koning
    Citation: Orphanet Journal of Rare Diseases 2017 12:45
  33. Clinical trials are typically designed using the classical frequentist framework to constrain type I and II error rates. Sample sizes required in such designs typically range from hundreds to thousands of pati...

    Authors: Siew Wan Hee, Adrian Willis, Catrin Tudur Smith, Simon Day, Frank Miller, Jason Madan, Martin Posch, Sarah Zohar and Nigel Stallard
    Citation: Orphanet Journal of Rare Diseases 2017 12:44
  34. Juvenile idiopathic arthritis (JIA) is a rare disease that is not widely known by paediatricians and general practitioner (GP) leading to diagnostic error and delayed care provision. We aimed to analyse patien...

    Authors: Laura Aoust, Linda Rossi-Semerano, Isabelle Koné-Paut and Perrine Dusser
    Citation: Orphanet Journal of Rare Diseases 2017 12:43
  35. Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of age but a juvenile or familial form has also been observed. YNS is diagnosed based on a tri...

    Authors: Stéphane Vignes and Robert Baran
    Citation: Orphanet Journal of Rare Diseases 2017 12:42
  36. Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick di...

    Authors: Margaret M. McGovern, Ruzan Avetisyan, Bernd-Jan Sanson and Olivier Lidove
    Citation: Orphanet Journal of Rare Diseases 2017 12:41
  37. Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Mal...

    Authors: Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu and Rahman Jamal
    Citation: Orphanet Journal of Rare Diseases 2017 12:40
  38. Cardiomyopathy is a leading cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). We recently showed in a 12-month double-blind randomized controlled trial that adding eplerenone to ...

    Authors: Subha V. Raman, Kan N. Hor, Wojciech Mazur, Xin He, John T. Kissel, Suzanne Smart, Beth McCarthy, Sharon L. Roble and Linda H. Cripe
    Citation: Orphanet Journal of Rare Diseases 2017 12:39
  39. The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities betwee...

    Authors: Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed and Neal Weinreb
    Citation: Orphanet Journal of Rare Diseases 2017 12:38
  40. Rare peritoneal cancers represent complex clinical situations requiring a specific and multidisciplinary management. Because of their rarity, lack of awareness and knowledge often leads to diagnostic delays an...

    Authors: L. Villeneuve, G. Passot, O. Glehen, S. Isaac, F. Bibeau, P. Rousset and F. N. Gilly
    Citation: Orphanet Journal of Rare Diseases 2017 12:37
  41. Orphan designated medicinal products benefit from regulatory and economic incentives for orphan drug development. Approximately 40% of orphan designations target rare neoplastic disorders, referring to rare ca...

    Authors: Kim Pauwels, Isabelle Huys, Minne Casteels, Kristina Larsson, Caroline Voltz, Karri Penttila, Thomas Morel and Steven Simoens
    Citation: Orphanet Journal of Rare Diseases 2017 12:36
  42. Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC ...

    Authors: Mark Davies, Anurag Saxena and John C. Kingswood
    Citation: Orphanet Journal of Rare Diseases 2017 12:35
  43. Non-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. We aimed to investigate progression, spontaneous regression and the natural history of non-optic gliomas i...

    Authors: Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Jan M. Friedman and Victor-Felix Mautner
    Citation: Orphanet Journal of Rare Diseases 2017 12:34
  44. Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predictin...

    Authors: Bridget T. Kiely, Jennifer L. Kohler, Hannah Y. Coletti, Michele D. Poe and Maria L. Escolar
    Citation: Orphanet Journal of Rare Diseases 2017 12:32
  45. CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives r...

    Authors: Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets and Matthis Synofzik
    Citation: Orphanet Journal of Rare Diseases 2017 12:31
  46. Propionic acidemia is an inborn error of metabolism caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase. Sensorineural deafness and severe hearing loss have been described as long-term c...

    Authors: S. C. Grünert, I. Bodi and K. E. Odening
    Citation: Orphanet Journal of Rare Diseases 2017 12:30