Rare systemic diseases

  1. Letter to the Editor

    7-day weighed food diaries suggest patients with hereditary hemorrhagic telangiectasia may spontaneously modify their diet to avoid nosebleed precipitants

    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 ...

    Helen Finnamore, B. Maneesha Silva, B. Mary Hickson, Kevin Whelan and Claire L. Shovlin

    Orphanet Journal of Rare Diseases 2017 12:60

    Published on: 28 March 2017

  2. Review

    A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever

    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...

    Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano and Isabelle Koné-Paut

    Orphanet Journal of Rare Diseases 2017 12:54

    Published on: 16 March 2017

  3. Research

    The burden of amyloid light chain amyloidosis on health-related quality of life

    Light chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality ...

    Martha Bayliss, Kristen L. McCausland, Spencer D. Guthrie and Michelle K. White

    Orphanet Journal of Rare Diseases 2017 12:15

    Published on: 19 January 2017

  4. Research

    Moebius sequence –a multidisciplinary clinical approach

    Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic co...

    Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen and John Rosendahl Østergaard

    Orphanet Journal of Rare Diseases 2017 12:4

    Published on: 6 January 2017

  5. Research

    Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort

    The occurrence of familial forms of sarcoidosis (OMIM 181100) suggests a genetic predisposition. The involvement of butyrophilin-like 2 (BTNL2) gene (rs2076530 variant) has to be investigated.

    Yves Pacheco, Alain Calender, Dominique Israël-Biet, Pascal Roy, Serge Lebecque, Vincent Cottin, Diane Bouvry, Hilario Nunes, Pascal Sève, Laurent Pérard, Gilles Devouassoux, Nathalie Freymond, Chahira Khouatra, Benoît Wallaert, Raphaelle Lamy, Mad-Hélénie Elsensohn…

    Orphanet Journal of Rare Diseases 2016 11:165

    Published on: 3 December 2016

  6. Research

    20-year follow-up study of Danish HHT patients—survival and causes of death

    Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutat...

    Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller and Anders Green

    Orphanet Journal of Rare Diseases 2016 11:157

    Published on: 22 November 2016

  7. Research

    Efficacy and safety of Everolimus in children with TSC - associated epilepsy – Pilot data from an open single-center prospective study

    Epilepsy occurs in up to 90 % of all individuals with tuberous sclerosis complex (TSC). In 67 % disease onset is during childhood. In ≥ 50 % seizures are refractory to currently available treatment options.

    Sharon Samueli, Klaus Abraham, Anastasia Dressler, Gudrun Gröppel, Angelika Mühlebner-Fahrngruber, Theresa Scholl, Gregor Kasprian, Franco Laccone and Martha Feucht

    Orphanet Journal of Rare Diseases 2016 11:145

    Published on: 3 November 2016

  8. Research

    Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications

    Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin com...

    Joanna Trelinska, Wojciech Fendler, Iwona Dachowska, Katarzyna Kotulska, Sergiusz Jozwiak, Karolina Antosik, Piotr Gnys, Maciej Borowiec and Wojciech Mlynarski

    Orphanet Journal of Rare Diseases 2016 11:129

    Published on: 29 September 2016

  9. Research

    Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration

    The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coag...

    Albert Busch, Sabine Hoffjan, Frauke Bergmann, Birgit Hartung, Helena Jung, Daniela Hanel, Andeas Tzschach, Janos Kadar, Yskert von Kodolitsch, Christoph-Thomas Germer, Heiner Trobisch, Erwin Strasser and René Wildenauer

    Orphanet Journal of Rare Diseases 2016 11:111

    Published on: 3 August 2016

  10. Research

    Improvement of sexual function in POEMS syndrome after combination therapy of Lenalidomide and dexamethasone

    POEMS syndrome is a rare paraneoplastic syndrome due to an underlying plasma cell neoplasm. Hypogonadism is the most common endocrine abnormality in POEMS syndrome. There is no data about improvement of hypogo...

    Hongbo Yang, Xufei Huang, Qianqian Cai, Chen Wang, Xinxin Cao, Daobin Zhou and Jian Li

    Orphanet Journal of Rare Diseases 2016 11:80

    Published on: 18 June 2016

  11. Research

    Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study

    Registration of trigger factors, prodromal symptoms, swelling localization, therapeutic behavior and gender-specific differences of the largest cohort of patients with hereditary angioedema due to C1-Inhibitor...

    Urs C. Steiner, Christina Weber-Chrysochoou, Arthur Helbling, Kathrin Scherer, Peter Schmid Grendelmeier and Walter A. Wuillemin

    Orphanet Journal of Rare Diseases 2016 11:43

    Published on: 21 April 2016

  12. Research

    Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

    Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisyste...

    Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal…

    Orphanet Journal of Rare Diseases 2016 11:26

    Published on: 22 March 2016

  13. Research

    Prevalence, incidence, and age at diagnosis in Marfan Syndrome

    Marfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose...

    Kristian A. Groth, Hanne Hove, Kasper Kyhl, Lars Folkestad, Mette Gaustadnes, Niels Vejlstrup, Kirstine Stochholm, John R. Østergaard, Niels H. Andersen and Claus H. Gravholt

    Orphanet Journal of Rare Diseases 2015 10:153

    Published on: 2 December 2015

  14. Research

    High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

    Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragment...

    Stephanie Van Groenendael, Luca Giacovazzi, Fabian Davison, Oliver Holtkemper, Zexin Huang, Qiaoying Wang, Kay Parkinson, Timothy Barrett and Tarekegn Geberhiwot

    Orphanet Journal of Rare Diseases 2015 10:149

    Published on: 24 November 2015

  15. Research

    Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

    Transthyretin-mediated amyloidosis is an inherited, progressively debilitating disease caused by mutations in the transthyretin gene. This study evaluated the safety, tolerability, pharmacokinetics, and pharma...

    Ole B Suhr, Teresa Coelho, Juan Buades, Jean Pouget, Isabel Conceicao, John Berk, Hartmut Schmidt, Márcia Waddington-Cruz, Josep M. Campistol, Brian R. Bettencourt, Akshay Vaishnaw, Jared Gollob and David Adams

    Orphanet Journal of Rare Diseases 2015 10:109

    Published on: 4 September 2015

  16. Research

    Relapsing polychondritis: clinical presentations, disease activity and outcomes

    Relapsing polychondritis is a rare disease characterised by inflammation of cartilaginous and proteoglycan rich structures. As there are only a few published single centre case series from all across the world...

    Aman Sharma, Arjun Dutt Law, Pradeep Bambery, Vinay Sagar, Ajay Wanchu, Varun Dhir, Rajesh Vijayvergiya, Kusum Sharma, Ashok Gupta, Naresh K Panda and Surjit Singh

    Orphanet Journal of Rare Diseases 2014 9:198

    Published on: 20 December 2014

  17. Research

    Cysteamine (Lynovex®), a novel mucoactive antimicrobial & antibiofilm agent for the treatment of cystic fibrosis

    There remains a critical need for more effective, safe, long-term treatments for cystic fibrosis (CF). Any successful therapeutic strategy designed to combat the respiratory pathology of this condition must ad...

    Cedric Charrier, Catherine Rodger, Jennifer Robertson, Aleksandra Kowalczuk, Nicola Shand, Douglas Fraser-Pitt, Derry Mercer and Deborah O’Neil

    Orphanet Journal of Rare Diseases 2014 9:189

    Published on: 30 November 2014

  18. Research

    TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

    Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysio...

    John C Kingswood, Paolo Bruzzi, Paolo Curatolo, Petrus J de Vries, Carla Fladrowski, Christoph Hertzberg, Anna C Jansen, Sergiusz Jozwiak, Rima Nabbout, Matthias Sauter, Renaud Touraine, Finbar O’Callaghan, Bernard Zonnenberg, Stefania Crippa, Silvia Comis, Guillaume Beaure d’Augères…

    Orphanet Journal of Rare Diseases 2014 9:182

    Published on: 26 November 2014

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