Haemoglobinopathies in Europe: health & migration policy perspectives.

abstract：:Schnitzler's syndrome is an auto-inflammatory disorder which is characterized by two mandatory features: an urticarial rash and a monoclonal gammopathy. Although the pathophysiology of this syndrome is not yet fully understood, a role for interleukin-1 seems apparent. While this presumed link between interleukin-1 and...

journal_title：Orphanet journal of rare diseases

authors： van Leersum FS,Potjewijd J,van Geel M,Steijlen PM,Vreeburg M

更新日期：2019-06-22 00:00:00

abstract：BACKGROUND:Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS:In this review, we summar...

journal_title：Orphanet journal of rare diseases

authors： Torres-Durán M,Lopez-Campos JL,Barrecheguren M,Miravitlles M,Martinez-Delgado B,Castillo S,Escribano A,Baloira A,Navarro-Garcia MM,Pellicer D,Bañuls L,Magallón M,Casas F,Dasí F

更新日期：2018-07-11 00:00:00

abstract：BACKGROUND:In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogenic mutation. The purpose of this study is to identify the cardiac pathologic characteristics in patie...

journal_title：Orphanet journal of rare diseases

authors： Hsu TR,Sung SH,Chang FP,Yang CF,Liu HC,Lin HY,Huang CK,Gao HJ,Huang YH,Liao HC,Lee PC,Yang AH,Chiang CC,Lin CY,Yu WC,Niu DM

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:The purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry. METHODS:Among 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 patients with autosomal...

journal_title：Orphanet journal of rare diseases

authors： Desplantes C,Fremond ML,Beaupain B,Harousseau JL,Buzyn A,Pellier I,Roques G,Morville P,Paillard C,Bruneau J,Pinson L,Jeziorski E,Vannier JP,Picard C,Bellanger F,Romero N,de Pontual L,Lapillonne H,Lutz P,Chantelot CB

更新日期：2014-12-10 00:00:00

abstract：BACKGROUND:Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL). METHODS:This patient-reported outcomes survey evaluated the global burden of Morquio A among adults (≥18 years, N = 27) and chi...

journal_title：Orphanet journal of rare diseases

authors： Hendriksz CJ,Lavery C,Coker M,Ucar SK,Jain M,Bell L,Lampe C

更新日期：2014-03-07 00:00:00

abstract：BACKGROUND:Inherited intellectual disability (ID) conditions are a group of genetically heterogeneous disorders that lead to variable degrees of cognition deficits. It has been shown that inherited ID can be caused by mutations in over 100 different genes and there is evidence for the presence of as yet unidentified ge...

journal_title：Orphanet journal of rare diseases

authors： Akawi NA,Al-Jasmi F,Al-Shamsi AM,Ali BR,Al-Gazali L

更新日期：2013-06-17 00:00:00

abstract：BACKGROUND:The concept of individual burden, associated with disease, has been introduced recently to determine the "disability" caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). Inherited ichthyosis belong to a large heterogeneous group of Mendelian Disorders of Cor...

journal_title：Orphanet journal of rare diseases

authors： Dufresne H,Hadj-Rabia S,Méni C,Sibaud V,Bodemer C,Taïeb C

更新日期：2013-02-15 00:00:00

abstract：OBJECTIVE:NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, there is no standard for the management of primary pulmonary NMC. This study aimed to confirm the clinic...

journal_title：Orphanet journal of rare diseases

authors： Xie XH,Wang LQ,Qin YY,Lin XQ,Xie ZH,Liu M,Zhang JX,Ouyang M,Liu J,Gu YY,Li SY,Zhou CZ

更新日期：2020-07-10 00:00:00

abstract：BACKGROUND:Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability. RESULTS:The patients were evalu...

journal_title：Orphanet journal of rare diseases

authors： Power B,Ferreira CR,Chen D,Zein WM,O'Brien KJ,Introne WJ,Stephen J,Gahl WA,Huizing M,Malicdan MCV,Adams DR,Gochuico BR

更新日期：2019-02-21 00:00:00

abstract：BACKGROUND:Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait, sensory deficits and bladder dysfunctions. A skewing in X Chromosome Inactivation (XCI), leading to the preferential expression of the X chromosome carrying...

journal_title：Orphanet journal of rare diseases

authors： Salsano E,Tabano S,Sirchia SM,Colapietro P,Castellotti B,Gellera C,Rimoldi M,Pensato V,Mariotti C,Pareyson D,Miozzo M,Uziel G

更新日期：2012-01-26 00:00:00

abstract：:The original version of this article [1] unfortunately included an error to an author's name. Author Maja Di Rocco was erroneously presented as Maja DiRocco.The correct author name has been included in the author list of this Correction article and is already updated in the original article. ...

journal_title：Orphanet journal of rare diseases

authors： Pignolo RJ,Baujat G,Brown MA,De Cunto C,Di Rocco M,Hsiao EC,Keen R,Al Mukaddam M,Sang KLQ,Wilson A,White B,Grogan DR,Kaplan FS

更新日期：2019-05-23 00:00:00

abstract：BACKGROUND:Dravet syndrome (DS) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may worsen independently from epilepsy. Our objective was to prospectively analyze the neuropsychological...

journal_title：Orphanet journal of rare diseases

authors： Nabbout R,Chemaly N,Chipaux M,Barcia G,Bouis C,Dubouch C,Leunen D,Jambaqué I,Dulac O,Dellatolas G,Chiron C

更新日期：2013-11-13 00:00:00

abstract：BACKGROUND:The objective of this study was to assess the potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement (P&R) process with regard to orphan drugs. METHODS:A four step approach was designed. Firstly, a systematic literature review was conduct...

journal_title：Orphanet journal of rare diseases

authors： Kolasa K,Zwolinski KM,Kalo Z,Hermanowski T

更新日期：2016-03-10 00:00:00

abstract：BACKGROUND:Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of alveolar hemorrhage in children and its pathophysiology remains obscure. Classically, diagnosis is based on a triad including hemoptysis, diffuse parenchymal infiltrates on chest X-rays, and iron-deficiency anemia. We present the French pediatric co...

journal_title：Orphanet journal of rare diseases

authors： Taytard J,Nathan N,de Blic J,Fayon M,Epaud R,Deschildre A,Troussier F,Lubrano M,Chiron R,Reix P,Cros P,Mahloul M,Michon D,Clement A,Corvol H,French RespiRare® group.

更新日期：2013-10-14 00:00:00

abstract：BACKGROUND:Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3...

journal_title：Orphanet journal of rare diseases

authors： Mercier S,Küry S,Salort-Campana E,Magot A,Agbim U,Besnard T,Bodak N,Bou-Hanna C,Bréhéret F,Brunelle P,Caillon F,Chabrol B,Cormier-Daire V,David A,Eymard B,Faivre L,Figarella-Branger D,Fleurence E,Ganapathi M,Gherard

更新日期：2015-10-15 00:00:00

abstract：BACKGROUND:Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the characteristics of patients with urea cycle disorders in Spain. METHODS:Observational, cross-sectional and multicenter study. Clinical, biochemical and gene...

journal_title：Orphanet journal of rare diseases

authors： Martín-Hernández E,Aldámiz-Echevarría L,Castejón-Ponce E,Pedrón-Giner C,Couce ML,Serrano-Nieto J,Pintos-Morell G,Bélanger-Quintana A,Martínez-Pardo M,García-Silva MT,Quijada-Fraile P,Vitoria-Miñana I,Dalmau J,Lama-More RA,Bue

更新日期：2014-11-30 00:00:00

abstract：BACKGROUND:Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, industry hesitated to undertake relevant research and development (R&D). In response, the governme...

journal_title：Orphanet journal of rare diseases

authors： Choudhury MC,Saberwal G

更新日期：2019-11-04 00:00:00

abstract：BACKGROUND:Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management s...

journal_title：Orphanet journal of rare diseases

authors： Abdelhakim M,McMurray E,Syed AR,Kafkas S,Kamau AA,Schofield PN,Hoehndorf R

更新日期：2020-06-11 00:00:00

abstract：:We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D ...

journal_title：Orphanet journal of rare diseases

authors： Al Kaissi A,Grill F,Safi H,Ben Ghachem M,Ben Chehida F,Klaushofer K

更新日期：2007-01-08 00:00:00

abstract：BACKGROUND:X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. Excess FGF23 activity leads t...

journal_title：Orphanet journal of rare diseases

authors： Padidela R,Nilsson O,Makitie O,Beck-Nielsen S,Ariceta G,Schnabel D,Brandi ML,Boot A,Levtchenko E,Smyth M,Jandhyala R,Mughal Z

更新日期：2020-06-30 00:00:00

abstract：BACKGROUND:Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single institution case series, is sparse in regard to well-designed studies to support clinical decision m...

journal_title：Orphanet journal of rare diseases

authors： White KK,Bober MB,Cho TJ,Goldberg MJ,Hoover-Fong J,Irving M,Kamps SE,Mackenzie WG,Raggio C,Spencer SA,Bompadre V,Savarirayan R,Skeletal Dysplasia Management Consortium.

更新日期：2020-06-24 00:00:00

abstract：:Since its enactment in 2000, the European Orphan Medicinal Products Regulation has allowed the review and approval of approaching 70 treatments for some 55 different conditions in Europe. Success does not come without a price, however. Many of these so-called "orphan drugs" have higher price points than treatments for...

journal_title：Orphanet journal of rare diseases

authors： Hughes-Wilson W,Palma A,Schuurman A,Simoens S

更新日期：2012-09-26 00:00:00

abstract：BACKGROUND:Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare disease, characterized by the massive accumulation of triglyceride (TG) in multiple tissues, especially skeletal muscle, heart muscle and the coronary artery. TGCV is caused by mutation of adipose triglyceride lipase, which is an essential molecule ...

journal_title：Orphanet journal of rare diseases

authors： Hara Y,Kawasaki N,Hirano K,Hashimoto Y,Adachi J,Watanabe S,Tomonaga T

更新日期：2013-12-21 00:00:00

abstract：BACKGROUND:Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10...

journal_title：Orphanet journal of rare diseases

authors： Ravn K,Roende G,Duno M,Fuglsang K,Eiklid KL,Tümer Z,Nielsen JB,Skjeldal OH

更新日期：2011-08-30 00:00:00

abstract：UNLABELLED:DEFINITION OF THE DISEASE: Behçet disease (BD) is a chronic, relapsing, multisystemic disorder characterized by mucocutaneous, ocular, vascular and central nervous system manifestations. EPIDEMIOLOGY:BD seems to cluster along the ancient Silk Road, which extends from eastern Asia to the Mediterranean basin....

journal_title：Orphanet journal of rare diseases

authors： Saadoun D,Wechsler B

更新日期：2012-04-12 00:00:00

abstract：BACKGROUND:Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides. The phenotypic spectrum is diverse, ranging from severe, neonatal onset failure to thrive, hep...

journal_title：Orphanet journal of rare diseases

authors： Pritchard AB,Strong A,Ficicioglu C

更新日期：2020-02-24 00:00:00

abstract：BACKGROUND:It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predictive value of the neonatal (test I) versus the 48-h BH4 loading test (test II) and long-term BH4 responsiveness. METHODS:Data on test I (>199...

journal_title：Orphanet journal of rare diseases

authors： Anjema K,Hofstede FC,Bosch AM,Rubio-Gozalbo ME,de Vries MC,Boelen CC,van Rijn M,van Spronsen FJ

更新日期：2016-01-29 00:00:00

abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the dentition. The disease is life-threatening when manifesting withi...

journal_title：Orphanet journal of rare diseases

authors： Rush ET

更新日期：2018-07-16 00:00:00

abstract：BACKGROUND:The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for patients with ATTR cardiomyopathy. However, the outcome of surgically obtained fat pad biopsies has...

journal_title：Orphanet journal of rare diseases

authors： Paulsson Rokke H,Sadat Gousheh N,Westermark P,Suhr OB,Anan I,Ihse E,Pilebro B,Wixner J

更新日期：2020-10-08 00:00:00

abstract：OBJECTIVES/BACKGROUND:Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene). Although, a few unique clinical features differentiate each of these forms,...

journal_title：Orphanet journal of rare diseases

authors： Nanetti L,Cavalieri S,Pensato V,Erbetta A,Pareyson D,Panzeri M,Zorzi G,Antozzi C,Moroni I,Gellera C,Brusco A,Mariotti C

更新日期：2013-08-14 00:00:00