Potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement process of orphan drugs.

abstract：:Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence in XP-CS and have written a clinical...

journal_title：Orphanet journal of rare diseases

authors： Natale V,Raquer H

更新日期：2017-04-04 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：:Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal cilio...

journal_title：Orphanet journal of rare diseases

authors： Romani M,Micalizzi A,Kraoua I,Dotti MT,Cavallin M,Sztriha L,Ruta R,Mancini F,Mazza T,Castellana S,Hanene B,Carluccio MA,Darra F,Máté A,Zimmermann A,Gouider-Khouja N,Valente EM

更新日期：2014-05-05 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：: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：: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: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:Glycogenosis type II or Pompe disease is an autosomal-recessive lysosomal storage disease due to mutations in the gene encoding acid alpha-glucosidase (GAA), an enzyme required for lysosomal glycogen degradation. The disease predominantly affects the skeletal and respiratory muscles but there is growing evid...

journal_title：Orphanet journal of rare diseases

authors： Katona I,Weis J,Hanisch F

更新日期：2014-02-05 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：BACKGROUND:Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The study aims to provide epidemiologic data and to describe the disease manifesta...

journal_title：Orphanet journal of rare diseases

authors： Nettesheim S,Kölker S,Karall D,Häberle J,Posset R,Hoffmann GF,Heinrich B,Gleich F,Garbade SF,Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IM

更新日期：2017-06-15 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：:In 1963, five cases of alpha1-antitrypsin deficiency were reported in the scientific literature, as well as an attempt to treat pulmonary alveolar proteinosis by a massive washing of the lung (whole lung lavage). Now, fifty years later, it seems the ideal moment not only to commemorate these publications, but also to ...

journal_title：Orphanet journal of rare diseases

authors： Trapnell BC,Luisetti M

更新日期：2013-09-30 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:Mucopolysaccharidosis type I (MPS I) is a debilitating hereditary disease characterized by alpha-L-iduronidase (IDUA) deficiency and consequent inability to degrade glycosaminoglycans. The pathological accumulation of glycosaminoglycans systemically results in severe mental retardation and multiple organ dys...

journal_title：Orphanet journal of rare diseases

authors： Hsu YH,Liu RS,Lin WL,Yuh YS,Lin SP,Wong TT

更新日期：2017-06-08 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：: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:The diagnosis of rare diseases poses a particular challenge to clinicians. This study analyzes whether patients' pain drawings (PDs) help in the differentiation of two pain-associated rare diseases, Ehlers-Danlos Syndrome (EDS) and Guillain-Barré Syndrome (GBS). METHOD:The study was designed as a prospectiv...

journal_title：Orphanet journal of rare diseases

authors： Wester L,Mücke M,Bender TTA,Sellin J,Klawonn F,Conrad R,Szczypien N

更新日期：2020-11-17 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:Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculo...

journal_title：Orphanet journal of rare diseases

authors： Kromann AB,Ousager LB,Ali IKM,Aydemir N,Bygum A

更新日期：2018-03-05 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:Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a lesser extent MADH4 and GDF2, which encode proteins involved in the TGF-β/BMP9 signaling pathway. C...

journal_title：Orphanet journal of rare diseases

authors： Giraud S,Bardel C,Dupuis-Girod S,Carette MF,Gilbert-Dussardier B,Riviere S,Saurin JC,Eyries M,Patri S,Decullier E,Calender A,Lesca G

更新日期：2020-09-22 00:00:00

abstract：BACKGROUND:Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the...

journal_title：Orphanet journal of rare diseases

authors： Semeraro M,Sacchetti E,Deodato F,Coşkun T,Lay I,Catesini G,Olivieri G,Rizzo C,Boenzi S,Dionisi-Vici C

更新日期：2021-01-09 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：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：: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:Hunter syndrome (mucopolysaccharidosis type II (MPS II)) is a rare metabolic disease that can severely compromise health, well-being and life expectancy. Little evidence has been published on the impact of MPS II on health-related quality of life (HRQL). The objective of this study was to describe this impac...

journal_title：Orphanet journal of rare diseases

authors： Raluy-Callado M,Chen WH,Whiteman DA,Fang J,Wiklund I

更新日期：2013-07-10 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：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：:An amendment to this paper has been published and can be accessed via the original article. ...

journal_title：Orphanet journal of rare diseases

authors： Opladen T,López-Laso E,Cortès-Saladelafont E,Pearson TS,Sivri HS,Yildiz Y,Assmann B,Kurian MA,Leuzzi V,Heales S,Pope S,Porta F,García-Cazorla A,Honzík T,Pons R,Regal L,Goez H,Artuch R,Hoffmann GF,Horvath G,Thöny B

更新日期：2020-08-05 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