European principles of inhibitor management in patients with haemophilia.

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

abstract：BACKGROUND: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 deficiency (C1-INH-HAE) in Switzerland. METHODS:Questionnaire survey within a cohort study: Consen...

journal_title：Orphanet journal of rare diseases

authors： Steiner UC,Weber-Chrysochoou C,Helbling A,Scherer K,Grendelmeier PS,Wuillemin WA

更新日期：2016-04-21 00:00:00

abstract：BACKGROUND:Myotonic dystrophy type 1 (Steinert's disease or DM1), the most common form of autosomal dominant muscular dystrophy in adults, is a multisystem disorder, affecting skeletal muscle as well as eyes, heart, gastrointestinal tract, endocrine system, and central nervous system, finally responsible of increasing ...

journal_title：Orphanet journal of rare diseases

authors： Baldanzi S,Bevilacqua F,Lorio R,Volpi L,Simoncini C,Petrucci A,Cosottini M,Massimetti G,Tognoni G,Ricci G,Angelini C,Siciliano G

更新日期：2016-04-04 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：BACKGROUND:Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the QoL of children with SMA and their caregivers and to identify the factors associated with QoL in a ...

journal_title：Orphanet journal of rare diseases

authors： Yao M,Ma Y,Qian R,Xia Y,Yuan C,Bai G,Mao S

更新日期：2021-01-06 00:00:00

abstract：BACKGROUND:While extraocular muscles are affected early in myasthenia gravis (MG), but respond to treatment, we observe a high incidence of treatment-resistant ophthalmoplegia (OP-MG) among MG subjects with African genetic ancestry. Previously, using whole exome sequencing, we reported potentially functional variants w...

journal_title：Orphanet journal of rare diseases

authors： Nel M,Prince S,Heckmann JM

更新日期：2019-01-29 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:IgG replacement therapy (IgRT) in primary immunodeficiencies (PID) is a lifelong treatment which may be administered intravenously (IVIg) or subcutaneously (SCIg), at hospital or at home. The objective of the VISAGE study was to investigate if route and/or place for IgRT impact patients' satisfaction regardi...

journal_title：Orphanet journal of rare diseases

authors： Bienvenu B,Cozon G,Hoarau C,Pasquet M,Cherin P,Clerson P,Hachulla E,Crave JC,Delain JC,Jaussaud R

更新日期：2016-06-22 00:00:00

abstract：:Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevalence is found in preterm infants, especially those with low birth weight. The female to male ratio is 2:1. Most...

journal_title：Orphanet journal of rare diseases

authors： Forsey JT,Elmasry OA,Martin RP

更新日期：2009-07-10 00:00:00

abstract：BACKGROUND:The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. RESULTS:We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches exhibiting moderately severe global developmental delay. Using h...

journal_title：Orphanet journal of rare diseases

authors： Akawi NA,Ben-Salem S,Hertecant J,John A,Pramathan T,Kizhakkedath P,Ali BR,Al-Gazali L

更新日期：2016-10-21 00:00:00

abstract：BACKGROUND:The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). RESULTS:Here, we report on a subject who pr...

journal_title：Orphanet journal of rare diseases

authors： Vantroys E,Smet J,Vanlander AV,Vergult S,De Bruyne R,Roels F,Stepman H,Roeyers H,Menten B,Van Coster R

更新日期：2018-05-21 00:00:00

abstract：BACKGROUND:It is now acknowledged that the input of patients in health outcome assessment is vital to understanding the impact of diseases and interventions for those diseases. This study is the first report of patient-reported outcome measures (PROM) in a large cohort of patients with type 1 Gaucher disease (GD1) enab...

journal_title：Orphanet journal of rare diseases

authors： Dinur T,Istaiti M,Frydman D,Becker-Cohen M,Szer J,Zimran A,Revel-Vilk S

更新日期：2020-10-13 00:00:00

abstract：BACKGROUND:Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent uncertainty of its pathophysiological and epidemiological characteristics. The purpose of the current s...

journal_title：Orphanet journal of rare diseases

authors： Jia JL,Chen S,Sivarajah V,Stephens D,Cortez MA

更新日期：2018-11-29 00:00:00

abstract：BACKGROUND:Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by the tetralogy of cerebellar ataxia, congenital cataracts, intellectual disability, and progressive muscle weakness due to myopathy. MSS is extremely rare, and its clinical, pathological, and genetic features are ...

journal_title：Orphanet journal of rare diseases

authors： Goto M,Okada M,Komaki H,Sugai K,Sasaki M,Noguchi S,Nonaka I,Nishino I,Hayashi YK

更新日期：2014-04-23 00:00:00

abstract：BACKGROUND:Major haemoglobinopathies (MH), such as thalassaemia syndromes (Thal) and sickle cell disorders (SCD), are genetic defects associated with chronic anaemia and other complications. In Europe, MH are rare diseases (RD) but their prevalence is significantly growing in many countries due to mobility and migratio...

journal_title：Orphanet journal of rare diseases

authors： Aguilar Martinez P,Angastiniotis M,Eleftheriou A,Gulbis B,Mañú Pereira Mdel M,Petrova-Benedict R,Corrons JL

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have ...

journal_title：Orphanet journal of rare diseases

authors： Ferraris A,Bernardini L,Sabolic Avramovska V,Zanni G,Loddo S,Sukarova-Angelovska E,Parisi V,Capalbo A,Tumini S,Travaglini L,Mancini F,Duma F,Barresi S,Novelli A,Mercuri E,Tarani L,Italian CBCD Study Group.,Bertini E,D

更新日期：2013-05-16 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:Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents a...

journal_title：Orphanet journal of rare diseases

authors： Serrano M,de Diego V,Muchart J,Cuadras D,Felipe A,Macaya A,Velázquez R,Poo MP,Fons C,O'Callaghan MM,García-Cazorla A,Boix C,Robles B,Carratalá F,Girós M,Briones P,Gort L,Artuch R,Pérez-Cerdá C,Jaeken J,Pérez B,P

更新日期：2015-10-26 00:00:00

abstract：BACKGROUND:Alleviating the burden of rare diseases requires research into new diagnostic and therapeutic strategies. We undertook a systematic review to identify and compare the impact of stand-alone registries, registries with biobanks, and rare disease biobanks on research outcomes in rare diseases. METHODS:A system...

journal_title：Orphanet journal of rare diseases

authors： Garcia M,Downs J,Russell A,Wang W

更新日期：2018-11-12 00:00:00

abstract：BACKGROUND:The lysosomal storage disorder, Niemann Pick type C1 (NPC1), presents a variable phenotype including neurovisceral and neurological symptoms. 2-Hydroxypropyl-ß-cyclodextrin (HPßCD)-based therapies are presently the most promising route of intervention. While severe cerebellar dysfunction remains the main dis...

journal_title：Orphanet journal of rare diseases

authors： Palladino G,Loizzo S,Fortuna A,Canterini S,Palombi F,Erickson RP,Mangia F,Fiorenza MT

更新日期：2015-10-12 00:00:00

abstract：BACKGROUND:PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. METHODS:Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 ...

journal_title：Orphanet journal of rare diseases

authors： Bar C,Diene G,Molinas C,Bieth E,Casper C,Tauber M

更新日期：2017-06-28 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: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 activation of plasma enzyme systems contributes to hereditary angioedema attacks. We aimed to study the activation markers of the fibrinolytic, coagulation, and contact systems in a larger number of paired samples obtained from the same C1-INH-HAE patients in symptom-free periods and during attacks. MET...

journal_title：Orphanet journal of rare diseases

authors： Csuka D,Veszeli N,Imreh É,Zotter Z,Skopál J,Prohászka Z,Varga L,Farkas H

更新日期：2015-10-09 00:00:00

abstract：BACKGROUND:The efficacy of thymectomy in patients with non-thymomatous Myasthenia Gravis (MG) is still unclear. Main limitations have been variable outcome definitions, lack of a control group and adjustment for confounding. OBJECTIVE:To study the efficacy of thymectomy in achieving remission or minimal manifestation ...

journal_title：Orphanet journal of rare diseases

authors： Barnett C,Katzberg HD,Keshavjee S,Bril V

更新日期：2014-12-24 00:00:00

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:Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized. PATIENTS AND METHODS:Here...

journal_title：Orphanet journal of rare diseases

authors： Leoni C,Romeo DM,Pelliccioni M,Di Già M,Onesimo R,Giorgio V,Flex E,Tedesco M,Tartaglia M,Rigante D,Valassina A,Zampino G

更新日期：2021-01-22 00:00:00

abstract：BACKGROUND:Rubinstein-Taybi syndrome (RTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Previous studies have reported that large deletions contribute to more severe RTS phenotypes than those caused by CREBBP point mutations, suggesting a concurrent pathogenetic role of flanking genes, typ...

journal_title：Orphanet journal of rare diseases

authors： Wu Y,Xia Y,Li P,Qu HQ,Liu Y,Yang Y,Lin J,Zheng M,Tian L,Wu Z,Huang S,Qin X,Zhou X,Chen S,Liu Y,Wang Y,Li X,Zeng H,Hakonarson H,Zhuang J

更新日期：2020-04-22 00:00:00

abstract：:The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6...

journal_title：Orphanet journal of rare diseases

authors： Cereda A,Carey JC

更新日期：2012-10-23 00:00:00

abstract：BACKGROUND:Primary Ciliary Dyskinesia (PCD) diagnosis relies on a combination of tests which may include (a) nasal Nitric Oxide (nNO), (b) High Speed Video Microscopy (HSVM) and (c) Transmission Electron Microscopy (TEM). There is variability in the availability of these tests and lack of universal agreement whether di...

journal_title：Orphanet journal of rare diseases

authors： Kouis P,Papatheodorou SI,Middleton N,Giallouros G,Kyriacou K,Cohen JT,Evans JS,Yiallouros PK

更新日期：2019-06-13 00:00:00