Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues.

abstract：BACKGROUND:Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is often very difficult to perform in these patients. The aim of the study was to use cardiac magnetic r...

journal_title：Orphanet journal of rare diseases

authors： Panovský R,Pešl M,Máchal J,Holeček T,Feitová V,Juříková L,Masárová L,Pešlová E,Opatřil L,Mojica-Pisciotti ML,Kincl V

更新日期：2021-01-30 00:00:00

abstract：BACKGROUND:Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described ...

journal_title：Orphanet journal of rare diseases

authors： Lassuthova P,Sišková D,Haberlová J,Sakmaryová I,Filouš A,Seeman P

更新日期：2014-04-01 00:00:00

abstract：BACKGROUND:Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible for classic galactosemia have been described to give rise to variants with con...

journal_title：Orphanet journal of rare diseases

authors： Haskovic M,Derks B,van der Ploeg L,Trommelen J,Nyakayiru J,van Loon LJC,Mackinnon S,Yue WW,Peake RWA,Zha L,Demirbas D,Qi W,Huang X,Berry GT,Achten J,Bierau J,Rubio-Gozalbo ME,Coelho AI

更新日期：2018-11-26 00:00:00

abstract：BACKGROUND:Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder characterized by wide clinical, genetic and pathomechanistic heterogeneity. Recently, the gene encoding peripheral myelin protein 2 (PMP2) was identified as a novel cause for CMT neuropathy with three mutations that structu...

journal_title：Orphanet journal of rare diseases

authors： Palaima P,Chamova T,Jander S,Mitev V,Van Broeckhoven C,Tournev I,Peeters K,Jordanova A

更新日期：2019-08-14 00:00:00

abstract：BACKGROUND:Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because only some of the features observed during natural aging are accelerated. METHODS:Since 2015, the M...

journal_title：Orphanet journal of rare diseases

authors： Grelet M,Blanck V,Sigaudy S,Philip N,Giuliano F,Khachnaoui K,Morel G,Grotto S,Sophie J,Poirsier C,Lespinasse J,Alric L,Calvas P,Chalhoub G,Layet V,Molin A,Colson C,Marsili L,Edery P,Lévy N,De Sandre-Giovannoli A

更新日期：2019-12-11 00:00:00

abstract：BACKGROUND:Hepatic macrophage (Kupffer cell) hyperplasia is often described in Wilson's disease (WD). In many liver diseases, Kupffer cell activation is related to disease severity, liver function, and fibrosis but the importance in WD is unknown. Kupffer cell activation can be assessed by the P-concentration of solubl...

journal_title：Orphanet journal of rare diseases

authors： Björklund J,Laursen TL,Sandahl TD,Møller HJ,Vilstrup H,Ott P,Grønbæk H

更新日期：2018-09-21 00:00:00

abstract：BACKGROUND:Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and pat...

journal_title：Orphanet journal of rare diseases

authors： Guillén-Navarro E,Domingo-Jiménez MR,Alcalde-Martín C,Cancho-Candela R,Couce ML,Galán-Gómez E,Alonso-Luengo O

更新日期：2013-06-25 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：: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: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:Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting in high phenylalanine (Phe) in blood and brain. If not treated early this results in intellectual disability, behavioral and psychiatric problems, microcephaly, motor defi...

journal_title：Orphanet journal of rare diseases

authors： Cannet C,Pilotto A,Rocha JC,Schäfer H,Spraul M,Berg D,Nawroth P,Kasperk C,Gramer G,Haas D,Piel D,Kölker S,Hoffmann G,Freisinger P,Trefz F

更新日期：2020-02-27 00:00:00

abstract：BACKGROUND:Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is difficult and international co-...

journal_title：Orphanet journal of rare diseases

authors： von Schnurbein J,Adams C,Akinci B,Ceccarini G,D'Apice MR,Gambineri A,Hennekam RCM,Jeru I,Lattanzi G,Miehle K,Nagel G,Novelli G,Santini F,Santos Silva E,Savage DB,Sbraccia P,Schaaf J,Sorkina E,Tanteles G,Vantyghem MC

更新日期：2020-01-15 00:00:00

abstract：BACKGROUND:Fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) is a form of tumor progression of dermatofibrosarcoma protuberans (DFSP) with an increased risk of metastasis and recurrence. Few studies have compared the clinicopathological features of FS-DFSP and conventional DFSP (C-DFSP). OBJECTIVES:To better ...

journal_title：Orphanet journal of rare diseases

authors： Li Y,Liang J,Xu X,Jiang X,Wang C,Chen S,Xiang B,Ji Y

更新日期：2021-01-26 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: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：:The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities--the classical hyper-IgE syndrome which is inherited in an au...

journal_title：Orphanet journal of rare diseases

authors： Szczawinska-Poplonyk A,Kycler Z,Pietrucha B,Heropolitanska-Pliszka E,Breborowicz A,Gerreth K

更新日期：2011-11-15 00:00:00

abstract：:Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and mu...

journal_title：Orphanet journal of rare diseases

authors： Jelsig AM,Qvist N,Brusgaard K,Nielsen CB,Hansen TP,Ousager LB

更新日期：2014-07-15 00:00:00

abstract：BACKGROUND:We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interacti...

journal_title：Orphanet journal of rare diseases

authors： Siddiq S,Wilson BJ,Graham ID,Lamoureux M,Khangura SD,Tingley K,Tessier L,Chakraborty P,Coyle D,Dyack S,Gillis J,Greenberg C,Hayeems RZ,Jain-Ghai S,Kronick JB,Laberge AM,Little J,Mitchell JJ,Prasad C,Siriwardena K,

更新日期：2016-12-07 00:00:00

abstract：UNLABELLED:DEFINITION AND CLINICAL PICTURE: We propose the minimal definition of Dercum's disease to be generalised overweight or obesity in combination with painful adipose tissue. The associated symptoms in Dercum's disease include fatty deposits, easy bruisability, sleep disturbances, impaired memory, depression, di...

journal_title：Orphanet journal of rare diseases

authors： Hansson E,Svensson H,Brorson H

更新日期：2012-04-30 00:00:00

abstract：BACKGROUND:Nineteen patients with deletions in chromosome 6p22-p24 have been published so far. The syndromic phenotype is varied, and includes intellectual disability, behavioural abnormalities, dysmorphic features and structural organ defects. Heterogeneous deletion breakpoints and sizes (1-17 Mb) and overlapping phen...

journal_title：Orphanet journal of rare diseases

authors： Barøy T,Misceo D,Strømme P,Stray-Pedersen A,Holmgren A,Rødningen OK,Blomhoff A,Helle JR,Stormyr A,Tvedt B,Fannemel M,Frengen E

更新日期：2013-01-07 00:00:00

abstract：BACKGROUND:Congenital tuberculosis is rare and carries a high mortality rate. Our objective was to summarize the current experience of the diagnosis and treatment of patients with congenital tuberculosis. METHODS:In total, 73 reported cases of congenital tuberculosis published in Chinese and 19 patients with congenita...

journal_title：Orphanet journal of rare diseases

authors： Li C,Liu L,Tao Y

更新日期：2019-06-10 00:00:00

abstract：:Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. Males and females are almost equally affected. The multi systemic form of ECD is associated with significant morbidity, which may aris...

journal_title：Orphanet journal of rare diseases

authors： Mazor RD,Manevich-Mazor M,Shoenfeld Y

更新日期：2013-09-08 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：: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:Stiff Person Syndrome (SPS) is a rare autoimmune movement disorder characterized by the presence of autoantibodies specific to the smaller isoform of glutamate decarboxylase (GAD65). A pathological role of these antibodies has been suggested by their capacity to inhibit GAD65 enzyme activity and by the obser...

journal_title：Orphanet journal of rare diseases

authors： Hampe CS,Petrosini L,De Bartolo P,Caporali P,Cutuli D,Laricchiuta D,Foti F,Radtke JR,Vidova V,Honnorat J,Manto M

更新日期：2013-06-05 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:A study was designed to identify the source of fever in a patient with post-polycythemia myelofibrosis, associated with clonal Janus Kinase 2 (JAK2) mutation involving duplication of exon 12. The patient presented with 1-2 day long self-limited periodic episodes of high fever that became more frequent as the...

journal_title：Orphanet journal of rare diseases

authors： Shinar Y,Tohami T,Livneh A,Schiby G,Hirshberg A,Nagar M,Goldstein I,Cohen R,Kukuy O,Shubman O,Sharabi Y,Gonzalez-Roca E,Arostegui JI,Rechavi G,Amariglio N,Salomon O

更新日期：2015-06-30 00:00:00

abstract：:Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seve...

journal_title：Orphanet journal of rare diseases

authors： Giugliani R,Vairo FP,Riegel M,de Souza CF,Schwartz IV,Pena SD

更新日期：2016-06-10 00:00:00

abstract：BACKGROUND:This study describes the natural history of Barth syndrome (BTHS). METHODS:The medical records of all patients with BTHS living in France were identified in multiple sources and reviewed. RESULTS:We identified 16 BTHS pedigrees that included 22 patients. TAZ mutations were observed in 15 pedigrees. The est...

journal_title：Orphanet journal of rare diseases

authors： Rigaud C,Lebre AS,Touraine R,Beaupain B,Ottolenghi C,Chabli A,Ansquer H,Ozsahin H,Di Filippo S,De Lonlay P,Borm B,Rivier F,Vaillant MC,Mathieu-Dramard M,Goldenberg A,Viot G,Charron P,Rio M,Bonnet D,Donadieu J

更新日期：2013-05-08 00:00:00

abstract：:Medical student training is largely focused on acquiring knowledge of diseases and their management, which may leave one with a naïve perception of what is achievable in practice, particularly in the field of rare diseases. Tumour Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is a rare autoinflammatory...

journal_title：Orphanet journal of rare diseases

authors： Al-Attar M

更新日期：2018-02-27 00:00:00