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Philipp Hofer, Sabrina Neururer, Georg Goebel
Data describing biobank resources frequently contains unstructured free-text information or insufficient coding standards. (Bio-) medical ontologies like Orphanet Rare Diseases Ontology (ORDO) or the Human Disease Ontology (DOID) provide a high number of concepts, synonyms and entity relationship properties. Such standard terminologies increase quality and granularity of input data by adding comprehensive semantic background knowledge from validated entity relationships. Moreover, cross-references between terminology concepts facilitate data integration across databases using different coding standards...
2016: Studies in Health Technology and Informatics
Mary Kearney, Richard W Orrell, Michael Fahey, Ruth Brassington, Massimo Pandolfo
BACKGROUND: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or early twenties. It is associated with slurred speech, scoliosis, and pes cavus. Heart abnormalities cause premature death in 60% of people with the disorder. There is no easily defined clinical or biochemical marker and no known treatment. This is the second update of a review first published in 2009 and previously updated in 2012...
2016: Cochrane Database of Systematic Reviews
Rui Alves, Marc Piñol, Jordi Vilaplana, Ivan Teixidó, Joaquim Cruz, Jorge Comas, Ester Vilaprinyo, Albert Sorribas, Francesc Solsona
Introduction. Most documented rare diseases have genetic origin. Because of their low individual frequency, an initial diagnosis based on phenotypic symptoms is not always easy, as practitioners might never have been exposed to patients suffering from the relevant disease. It is thus important to develop tools that facilitate symptom-based initial diagnosis of rare diseases by clinicians. In this work we aimed at developing a computational approach to aid in that initial diagnosis. We also aimed at implementing this approach in a user friendly web prototype...
2016: PeerJ
N Griffon, M Schuers, F Dhombres, T Merabti, G Kerdelhué, L Rollin, S J Darmoni
BACKGROUND: Despite international initiatives like Orphanet, it remains difficult to find up-to-date information about rare diseases. The aim of this study is to propose an exhaustive set of queries for PubMed based on terminological knowledge and to evaluate it versus the queries based on expertise provided by the most frequently used resource in Europe: Orphanet. METHODS: Four rare disease terminologies (MeSH, OMIM, HPO and HRDO) were manually mapped to each other permitting the automatic creation of expended terminological queries for rare diseases...
2016: BMC Medical Informatics and Decision Making
Pia Pohjola, Victoria Hedley, Kate Bushby, Helena Kääriäinen
As the availability of genetic tests has grown rapidly during the last decade along with the increasing knowledge of the genetic background of rare inherited diseases, sending DNA samples to another country for analysis has become more of a routine than an exception in clinical diagnostics. Nonetheless, few studies of cross-border genetic testing of rare diseases in the European Union (EU) have been carried out, and data about the challenges and problems related to cross-border testing are lacking. The purpose of this study was to investigate the experiences of the molecular genetic laboratories and the clinical genetics units concerning the cross-border genetic testing of rare diseases in the Member States of the EU...
July 6, 2016: European Journal of Human Genetics: EJHG
Dmitry Victorovich Garbuzenko, Nikolay Olegovich Arefyev, Dmitry Vladimirovich Belov
PubMed, EMBASE, Orphanet, MIDLINE, Google Scholar and Cochrane Library were searched for articles published between 1983 and 2015. Relevant articles were selected by using the following terms: "Liver cirrhosis", "Endothelial dysfunction", "Sinusoidal remodeling", "Intrahepatic angiogenesis" and "Pathogenesis of portal hypertension". Then the reference lists of identified articles were searched for other relevant publications as well. Besides gross hepatic structural disorders related to diffuse fibrosis and formation of regenerative nodules, the complex morphofunctional rearrangement of the hepatic microvascular bed and intrahepatic angiogenesis also play important roles in hemodynamic disturbances in liver cirrhosis...
June 8, 2016: World Journal of Hepatology
Evangelos Minos, Robert J Barry, Sue Southworth, Annie Folkard, Philip I Murray, Jay S Duker, Pearse A Keane, Alastair K Denniston
Birdshot chorioretinopathy (BCR) is a rare form of chronic, bilateral, posterior uveitis with a distinctive clinical phenotype, and a strong association with HLA-A29. It predominantly affects people in middle age. Given its rarity, patients often encounter delays in diagnosis leading to delays in adequate treatment, and thus risking significant visual loss. Recent advances have helped increase our understanding of the underlying autoimmune mechanisms involved in disease pathogenesis, and new diagnostic approaches such as multimodality imaging have improved our ability to both diagnose and monitor disease activity...
2016: Orphanet Journal of Rare Diseases
Gabriella DiMarco, Dane Hill, Steven R Feldman
BACKGROUND: Patient registries are datasets containing information on patients with a particular disease or patients who are undergoing a specific treatment. OBJECTIVE: Our objective was to search for and catalog the types of registries being used in dermatology and investigate their characteristics and uses. METHODS: We searched Google, the Registry of Patient Registries, Orphanet, and to compile a list of dermatology disease registries...
October 2016: Journal of the American Academy of Dermatology
Szegedi Márta, György Kosztolányi, Imre Boncz, Mária Judit Molnár
OBJECTIVES: Nervous system involvement is expected up to 60-70% in case of rare diseases. This article aims to present the financial methods and expenditures of rare neurological diseases' orphan medicinal products being financed in the frame of Hungarian social insurance system in 2012. METHODS: The subsidized orphan medicines were selected on the Orphanet portal 2012 while orphans financed by compessionate use were provided by the Hungarian National Insurance Fund Administration (OEP) database...
January 30, 2016: Ideggyógyászati Szemle
Aleksandra Jezela-Stanek, Dorota Karczmarewicz, Krystyna H Chrzanowska, Małgorzata Krajewska-Walasek
Orphanet is an international project aiming to help in improvement the diagnostic process, care and treatment of patients with rare diseases, and to provide information on development in research and new therapy. Orphanet is currently represented in 38 countries. The infrastructure and coordination activities are jointly funded by Inserm, the French Directorate General for Health, and the European Commission. Moreover, certain services are specially funded by other partners. Orphanet's activities in each country of the network are partially financed by national institutions and(or) specific contracts...
October 2015: Developmental Period Medicine
Remy Choquet, Meriem Maaroufi, Yannick Fonjallaz, Albane de Carrara, Pierre-Yves Vandenbussche, Ferdinand Dhombres, Paul Landais
Characterizing a rare disease diagnosis for a given patient is often made through expert's networks. It is a complex task that could evolve over time depending on the natural history of the disease and the evolution of the scientific knowledge. Most rare diseases have genetic causes and recent improvements of sequencing techniques contribute to the discovery of many new diseases every year. Diagnosis coding in the rare disease field requires data from multiple knowledge bases to be aggregated in order to offer the clinician a global information space from possible diagnosis to clinical signs (phenotypes) and known genetic mutations (genotype)...
2015: AMIA ... Annual Symposium Proceedings
Teresinha Evangelista, Victoria Hedley, Antonio Atalaia, Matt Johnson, Stephen Lynn, Yann Le Cam, Kate Bushby
BACKGROUND: In the past few years there has been a political imperative driving the creation of European Reference Networks as these are considered a promising way to achieve equity in access to the most up to date medical care across Europe. The right to equity in the access to care was established by the directive of the European Parliament and of the Council on the application of patients' rights in cross-border healthcare. The particular situation for Rare Diseases whereby sharing of expertise can be regarded as especially valuable, as well as the work that is already in place in the networking of Rare Diseases experts means that Rare Diseases are considered excellent models for the development of European Reference Networks...
2016: Orphanet Journal of Rare Diseases
Algirdas Zalimas, Gintas Posiunas, Sigitas Strupas, Ramunas Raugalas, Juozas Raistenskis, Gilvydas Verkauskas
BACKGROUND: PELVIS is an acronym defining the association of perineal hemangioma, malformations of external genitalia, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus and skin tag. Eleven cases have been reported according to the Orphanet data. Acronyms of LUMBAR and SACRAL syndrome have been used and most probably represent a spectrum of the same entity. Very little is known about the success and timing of cloacal reconstruction after the treatment of hemangioma. We present a variant of PELVIS syndrome and discuss the possibilities and optimal timing of surgical reconstruction...
2015: BMC Pediatrics
Gretta Pantaleón F, Tamara Juvier R
UNLABELLED: Rett syndrome (RS) is a neurodevelopmental disorder that exclusively affects girls, and occurs along with autism. It is very uncommon, and has five distinct forms, one classic and the others atypical, which generally compromise manual skills, language, and mobility, and widely associated with the appearance of stereotypy and early epilepsy. With the aim of updating the information about RS, a search was performed in the computer data bases of PubMed, Hinari, SCIELO and Medline, as well as consulting other web sites including OMIM, ORPHANET, GeneMap, Genetests, Proteins and Gene, using the descriptors "Síndrome de Rett", "genes y Síndrome de Rett", "Rett Syndrome gene", "Rett Syndrome", "Rett Syndrome gene therapy", and "Rett Syndrome review"...
May 2015: Revista Chilena de Pediatría
Voytek Slowik, Thomas Attard, Hongying Dai, Raj Shah, Seth Septer
BACKGROUND: Desmoid tumors are a group of benign, invasive, solid tumors that are relatively rare in the general population, but can occur in up to 21 % of patients with Familial Adenomatous Polyposis (FAP). They can be difficult to treat and have high rates of recurrence even after resection. Our goal with this study was to identify the genetic mutations that put certain patients with FAP at high risk for desmoid tumors and could be future targets for research. METHODS: We performed a search in Pubmed, Ovid Medline and Embase to identify subjects with desmoid tumors and FAP...
2015: BMC Gastroenterology
Robert Hoehndorf, Paul N Schofield, Georgios V Gkoutos
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs and symptoms of human Mendelian diseases in databases such as OMIM and Orphanet. Exploiting these resources, several computational methods have been developed for integration and analysis of phenotype data to identify the genetic etiology of diseases or suggest plausible interventions...
2015: Scientific Reports
Ségolène Aymé, Bertrand Bellet, Ana Rath
BACKGROUND: Because of their individual rarity, genetic diseases and other types of rare diseases are under-represented in healthcare coding systems; this contributes to a lack of ascertainment and recognition of their importance for healthcare planning and resource allocation, and prevents clinical research from being performed. METHODS: Orphanet was given the task to develop an inventory of rare diseases and a classification system which could serve as a template to update International terminologies...
2015: Orphanet Journal of Rare Diseases
Charles E Kahn
PURPOSE: The author sought to integrate an ontology of rare diseases with a large ontological model of radiological diagnosis. MATERIALS AND METHODS: The Orphanet Rare Disease Ontology (ORDO) comprised 6794 rare diseases. The Radiology Gamuts Ontology (RGO) incorporated 16 197 terms and 53,425 causal relations linking disorders to imaging manifestations. Semi-automated string-matching was used to match ORDO terms to RGO terms. RESULTS: Of 6794 ORDO terms, 1587 (23...
November 2015: Journal of the American Medical Informatics Association: JAMIA
Myriam de Chalendar, Marie Daniel, Annie Olry, Ana Rath
No abstract text is available yet for this article.
December 2014: Orphanet Journal of Rare Diseases
Ségolène Aymé
The Editors of Orphanet Journal of Rare Diseases would like to thank all our reviewers who have contributed to the journal in volume 8 (2013).
December 2014: Orphanet Journal of Rare Diseases
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