Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and Germany.

abstract：BACKGROUND:Prader-Willi syndrome (PWS) is a complex neurodevelopmental genetic disorder with hypothalamic dysfunction, early morbid obesity with hyperphagia, and specific psychiatric phenotypes including cognitive and behavioural problems, particularly disruptive behaviours and frequent temper outbursts that preclude s...

journal_title：Orphanet journal of rare diseases

authors： Tauber M,Mantoulan C,Copet P,Jauregui J,Demeer G,Diene G,Rogé B,Laurier V,Ehlinger V,Arnaud C,Molinas C,Thuilleaux D

更新日期：2011-06-24 00:00:00

abstract：:IgA pemphigus is an exceedingly rare autoimmune blistering disorder, caused by IgA autoantibodies against desmosomal proteins. No treatment option has been found to be universally effective. The disease is often recalcitrant to oral steroids and immunosuppressants. Here, we describe the use of systemic retinoids for t...

journal_title：Orphanet journal of rare diseases

authors： Schauer F,Kern JS,Kiritsi D

更新日期：2018-09-18 00:00:00

abstract：:Among the challenges confronting patients with rare diseases is a dearth of treatment options. The development of safe and effective new therapies is hampered by challenges associated with conducting clinical trials in small populations. In this article, we describe how the Duchenne muscular dystrophy community-led by...

journal_title：Orphanet journal of rare diseases

authors： Furlong P,Bridges JF,Charnas L,Fallon JR,Fischer R,Flanigan KM,Franson TR,Gulati N,McDonald C,Peay H,Sweeney HL

更新日期：2015-06-24 00:00:00

abstract：:Huntington's disease (HD) is a progressive neurodegenerative hereditary disease clinically characterised by the presence of involuntary movements, behavioural problems and cognitive decline. The disease-onset is usually between 30 and 50 years of age. HD is a rare disorder affecting approximately 1.3 in 10,000 people ...

journal_title：Orphanet journal of rare diseases

authors： Marelli C,Maschat F

更新日期：2016-03-17 00:00:00

abstract：BACKGROUND:Rapamycin has gained significant attention for its potential activity in reducing the size of TSC-associated tumors, thus providing alternative to surgery. This study aimed at determining the efficacy of rapamycin and rapalogs for reducing the size of TSC-associated solid tumors in patients with Tuberous Scl...

journal_title：Orphanet journal of rare diseases

authors： Sasongko TH,Ismail NF,Nik Abdul Malik NM,Zabidi-Hussin ZA

更新日期：2015-08-12 00:00:00

abstract：BACKGROUND:Orphan drug development faces numerous challenges, including low disease prevalence, patient population heterogeneity, and strong presence of paediatric patient populations. Consequently, clinical trials for orphan drugs are often smaller than those of non-orphan drugs, and they require the development of ef...

journal_title：Orphanet journal of rare diseases

authors： Day S,Jonker AH,Lau LPL,Hilgers RD,Irony I,Larsson K,Roes KC,Stallard N

更新日期：2018-11-06 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：BACKGROUND:For many rare diseases, few treatments are supported by strong evidence. Patients, family members, health care providers, and policy-makers thus have to consider whether to accept, recommend, or fund treatments with uncertain clinical effectiveness. They must also consider whether and how to contribute to cl...

journal_title：Orphanet journal of rare diseases

authors： Tingley K,Coyle D,Graham ID,Chakraborty P,Wilson K,Potter BK,Canadian Inherited Metabolic Diseases Research Network.

更新日期：2021-01-12 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：BACKGROUND:Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson's disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of PD may be preceded by many non-motor symptoms (NMS), which include hyposm...

journal_title：Orphanet journal of rare diseases

authors： Wilke MVMB,Dornelles AD,Schuh AS,Vairo FP,Basgalupp SP,Siebert M,Nalin T,Piltcher OB,Schwartz IVD

更新日期：2019-05-10 00:00:00

abstract：INTRODUCTION:The European principles of care in haemophilia marked their first decade in 2018. These guiding principles were the beginning of the European Haemophilia Consortium (EHC) review of countries' adherence to these principles in 2009, 2012, 2015 and 2018. The aim of this paper was to examine the implementation...

journal_title：Orphanet journal of rare diseases

authors： Noone D,O'Mahony B,Peyvandi F,Makris M,Bok A

更新日期：2020-07-13 00:00:00

abstract：BACKGROUND:The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics. METHODS:A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierra...

journal_title：Orphanet journal of rare diseases

authors： Gómez-Acebo I,Prado SR,De La Mora Á,Puente RZ,de la Roza Varela B,Dierssen-Sotos T,Llorca J

更新日期：2020-06-29 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：:Long-term complications and associated conditions of type 1 Gaucher Disease (GD) can include splenectomy, bone complications, pulmonary hypertension, Parkinson disease and malignancies. Enzyme replacement therapy (ERT) reverses cytopenia and reduces organomegaly. To study the effects of ERT on long-term complications ...

journal_title：Orphanet journal of rare diseases

authors： van Dussen L,Biegstraaten M,Dijkgraaf MG,Hollak CE

更新日期：2014-07-24 00:00:00

abstract：BACKGROUND:Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of exis...

journal_title：Orphanet journal of rare diseases

authors： Atalaia A,Thompson R,Corvo A,Carmody L,Piscia D,Matalonga L,Macaya A,Lochmuller A,Fontaine B,Zurek B,Hernandez-Ferrer C,Rheinard C,Gómez-Andrés D,Desaphy JF,Schon K,Lohmann K,Jennings MJ,Synofzik M,Riess O,Yaou RB,

更新日期：2020-08-12 00:00:00

abstract：BACKGROUND:Chronic obstructive pulmonary disease (COPD) is influenced by environmental and genetic factors. An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin deficiency (AATD). A study was undertaken to investigate gene expression patterns in end-stage COPD ...

journal_title：Orphanet journal of rare diseases

authors： Koczulla AR,Jonigk D,Wolf T,Herr C,Noeske S,Klepetko W,Vogelmeier C,von Neuhoff N,Rische J,Wrenger S,Golpon H,Voswinckel R,Luisetti M,Ferrarotti I,Welte T,Janciauskiene S

更新日期：2012-05-23 00:00:00

abstract：BACKGROUND:Thalassaemia is a potentially life-threatening yet preventable inherited hemoglobin disorder. Understanding local socio-cultural context and level of public awareness about thalassaemia is pivotal for selecting effective prevention strategies. This study attempted to assess knowledge and perceptions about th...

journal_title：Orphanet journal of rare diseases

authors： Hossain MS,Hasan MM,Raheem E,Islam MS,Al Mosabbir A,Petrou M,Telfer P,Siddiqee MH

更新日期：2020-02-21 00:00:00

abstract：BACKGROUND:Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population. METHODS:In a nationwide cohort study from 1992 to 2017, records of 333 persons (tota...

journal_title：Orphanet journal of rare diseases

authors： Baravelli CM,Aarsand AK,Sandberg S,Tollånes MC

更新日期：2020-02-21 00:00:00

abstract：BACKGROUND:Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of h...

journal_title：Orphanet journal of rare diseases

authors： Fiorillo C,Astrea G,Savarese M,Cassandrini D,Brisca G,Trucco F,Pedemonte M,Trovato R,Ruggiero L,Vercelli L,D'Amico A,Tasca G,Pane M,Fanin M,Bello L,Broda P,Musumeci O,Rodolico C,Messina S,Vita GL,Sframeli M,Gibe

更新日期：2016-07-07 00:00:00

abstract：BACKGROUND:Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Level of cleavage in the skin, clinical features with immunofluorescence antigen mapping and/or electron...

journal_title：Orphanet journal of rare diseases

authors： Montaudié H,Chiaverini C,Sbidian E,Charlesworth A,Lacour JP

更新日期：2016-08-20 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:The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge and expertise are limited and patient populations are geographically dispersed. Understanding what p...

journal_title：Orphanet journal of rare diseases

authors： Courbier S,Dimond R,Bros-Facer V

更新日期：2019-07-12 00:00:00

abstract：BACKGROUND: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 mutations are found in HHT1 (ENG) and HHT2 (ACVRL1) patients, causing alterations in the TGF-β pathway wh...

journal_title：Orphanet journal of rare diseases

authors： Kjeldsen A,Aagaard KS,Tørring PM,Möller S,Green A

更新日期：2016-11-22 00:00:00

abstract：BACKGROUND:FBLN5-related cutis laxa (CL) is a rare disorder that involves elastic fiber-enriched tissues and is characterized by lax skin and variable systemic involvement such as pulmonary emphysema, arterial involvement, inguinal hernias, hollow viscus diverticula and pyloric stenosis. This type of CL follows mostly ...

journal_title：Orphanet journal of rare diseases

authors： Gharesouran J,Hosseinzadeh H,Ghafouri-Fard S,Jabbari Moghadam Y,Ahmadian Heris J,Jafari-Rouhi AH,Taheri M,Rezazadeh M

更新日期：2021-01-28 00:00:00

abstract：BACKGROUND:We report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical presentation includes intractable seizures, developmental delay, microcephaly, dysostosis, osteopeni...

journal_title：Orphanet journal of rare diseases

authors： Stockler S,Corvera S,Lambright D,Fogarty K,Nosova E,Leonard D,Steinfeld R,Ackerley C,Shyr C,Au N,Selby K,van Allen M,Vallance H,Wevers R,Watkins D,Rosenblatt D,Ross CJ,Conibear E,Wasserman W,van Karnebeek C

更新日期：2014-09-20 00:00:00

abstract：BACKGROUND:Purine nucleoside analogs (PNAs) are the recommended first-line treatment for patients with hairy cell leukemia (HCL), but they are associated with adverse events (AEs). Due to a lack of real-world evidence regarding AEs that are associated with PNAs, we used commercial data to assess AE rates, AE-related he...

journal_title：Orphanet journal of rare diseases

authors： Epperla N,Pavilack M,Olufade T,Bashyal R,Li J,Kabadi SM,Yuce H,Andritsos L

更新日期：2020-02-13 00:00:00

abstract：:Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem...

journal_title：Orphanet journal of rare diseases

authors： Verma AS,Fitzpatrick DR

更新日期：2007-11-26 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：:Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically based on the symptoms and signs of bowel obstruction which are similar to the clinical manifestations of other...

journal_title：Orphanet journal of rare diseases

authors： Yan JK,Zhou KJ,Huang JH,Wu QQ,Zhang T,Wang CC,Cai W

更新日期：2017-03-28 00:00:00