Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study.

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:Phenylketonuria (PKU) is an inherited metabolic disorder characterized by reduced activity of phenylalanine hydroxylase resulting in elevated blood phenylalanine (Phe) concentration. Despite some obvious ocular changes, the disorder has been poorly recognized by ophthalmologists. Neurophysiologic tests imply...

journal_title：Orphanet journal of rare diseases

authors： Hopf S,Nowak C,Hennermann JB,Schmidtmann I,Pfeiffer N,Pitz S

更新日期：2020-05-25 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:Achondroplasia is the most common form of disproportionate short stature and might affect not only the quality of life of the affected child but also that of the parents. OBJECTIVES:We aimed to investigate the quality of life of children with achondroplasia from child- and parent perspective as well as the ...

journal_title：Orphanet journal of rare diseases

authors： Witt S,Kolb B,Bloemeke J,Mohnike K,Bullinger M,Quitmann J

更新日期：2019-08-09 00:00:00

abstract：BACKGROUND:Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their guideline adherence. Although there is substantial research on the factor...

journal_title：Orphanet journal of rare diseases

authors： Denger B,Kinnett K,Martin A,Grant S,Armstrong C,Khodyakov D

更新日期：2019-08-20 00:00:00

abstract：:Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence of JSRD ra...

journal_title：Orphanet journal of rare diseases

authors： Brancati F,Dallapiccola B,Valente EM

更新日期：2010-07-08 00:00:00

abstract：BACKGROUND:A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during pregnancy. Recognition of the increased risks of in utero exposure to VPA ...

journal_title：Orphanet journal of rare diseases

authors： Clayton-Smith J,Bromley R,Dean J,Journel H,Odent S,Wood A,Williams J,Cuthbert V,Hackett L,Aslam N,Malm H,James G,Westbom L,Day R,Ladusans E,Jackson A,Bruce I,Walker R,Sidhu S,Dyer C,Ashworth J,Hindley D,Diaz G

更新日期：2019-07-19 00:00:00

abstract：BACKGROUND:Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). Mutations in the two gene...

journal_title：Orphanet journal of rare diseases

authors： Beech CM,Liyanarachchi S,Shah NP,Sturm AC,Sadiq MF,de la Chapelle A,Tanner SM

更新日期：2011-11-13 00:00:00

abstract：BACKGROUND:Lymphangioleiomyomatosis (LAM) is included within group 5 of the current PH classification (unclear multifactorial mechanisms). However, data regarding the occurrence of PH in LAM are scarce. The aims of the study were to describe the prevalence and characteristics of PH in a large cohort of LAM patients wit...

journal_title：Orphanet journal of rare diseases

authors： Freitas CSG,Baldi BG,Jardim C,Araujo MS,Sobral JB,Heiden GI,Kairalla RA,Souza R,Carvalho CRR

更新日期：2017-04-20 00:00:00

abstract：BACKGROUND:Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most of the IMDs are inherited in an autosomal recessive manner. The incidence of IMDs varies from country to country and within different ethnic groups, b...

journal_title：Orphanet journal of rare diseases

authors： Hazan G,Hershkovitz E,Staretz-Chacham O

更新日期：2020-11-25 00:00:00

abstract：PURPOSE:Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. Here, caregivers and patients prioritize factors influencing decision making regarding participation in...

journal_title：Orphanet journal of rare diseases

authors： Paquin RS,Fischer R,Mansfield C,Mange B,Beaverson K,Ganot A,Martin AS,Morris C,Rensch C,Ricotti V,Russo LJ,Sadosky A,Smith EC,Peay HL

更新日期：2019-05-09 00:00:00

abstract：BACKGROUND:Epidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Several clinical phenotypes have been described, but subepidermal blistering is characteristic of all variants. Limited data on clinical and immunopathological characteristics and treatment outcomes in EBA are available. To fill this gap,...

journal_title：Orphanet journal of rare diseases

authors： Iwata H,Vorobyev A,Koga H,Recke A,Zillikens D,Prost-Squarcioni C,Ishii N,Hashimoto T,Ludwig RJ

更新日期：2018-09-04 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：:Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 ...

journal_title：Orphanet journal of rare diseases

authors： Grønskov K,Ek J,Brondum-Nielsen K

更新日期：2007-11-02 00:00:00

abstract：OBJECTIVE:To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation. METHODS:We prospectively analyzed 40 consecutive patients with a diagnosis of laminopathy followed at a single centre between 1998 and 2...

journal_title：Orphanet journal of rare diseases

authors： Ditaranto R,Boriani G,Biffi M,Lorenzini M,Graziosi M,Ziacchi M,Pasquale F,Vitale G,Berardini A,Rinaldi R,Lattanzi G,Potena L,Martin Suarez S,Bacchi Reggiani ML,Rapezzi C,Biagini E

更新日期：2019-11-19 00:00:00

abstract：:Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of the first causative gene in 1997 was rapidly followed by the identification of many others from the same gro...

journal_title：Orphanet journal of rare diseases

authors： Touitou I,Galeotti C,Rossi-Semerano L,Hentgen V,Piram M,Koné-Paut I,CeRéMAI, French reference center for autoinflammatory diseases.

更新日期：2013-10-16 00:00:00

abstract：:Microvillous inclusion disease (MVID) or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by morphological enterocyte abnormalities. MVID manifests either in the first days of life (early-onset form) or ...

journal_title：Orphanet journal of rare diseases

authors： Ruemmele FM,Schmitz J,Goulet O

更新日期：2006-06-26 00:00:00

abstract：BACKGROUND:Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitudinal data on functional disease progression and safety observations in...

journal_title：Orphanet journal of rare diseases

authors： Patterson MC,Mengel E,Vanier MT,Schwierin B,Muller A,Cornelisse P,Pineda M,NPC Registry investigators.

更新日期：2015-05-28 00:00:00

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：BACKGROUND:Clinical trials in rare diseases are more challenging than trials in frequent diseases. Small numbers of eligible trial participants, often complicated by heterogeneity among rare disease patients, hamper the design and conduct of a 'classical' Randomized Controlled Trial. Therefore, novel designs are develo...

journal_title：Orphanet journal of rare diseases

authors： Gaasterland CMW,van der Weide MCJ,du Prie-Olthof MJ,Donk M,Kaatee MM,Kaczmarek R,Lavery C,Leeson-Beevers K,O'Neill N,Timmis O,van Nederveen V,Vroom E,van der Lee JH

更新日期：2019-02-07 00:00:00

abstract：:Biliary atresia (BA) is a rare disease characterised by a biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age group. BA occurs in approximately 1/18,000 live births in Western Europe. In the world, the reported incidence...

journal_title：Orphanet journal of rare diseases

authors： Chardot C

更新日期：2006-07-26 00:00:00

abstract：BACKGROUND:Glutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited number of countries rec...

journal_title：Orphanet journal of rare diseases

authors： Pfeil J,Listl S,Hoffmann GF,Kölker S,Lindner M,Burgard P

更新日期：2013-10-17 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:The small cell ovarian carcinoma of the hypercalcemic type (SCCOHT) which preferably affects young women during regenerative age represents a rare and aggressive form of ovarian tumors with poor prognosis and lacks an efficient therapy. METHODS AND RESULTS:In vitro chemotherapy testing in a fluorescence ass...

journal_title：Orphanet journal of rare diseases

authors： Otte A,Rauprich F,Hillemanns P,Park-Simon TW,von der Ohe J,Hass R

更新日期：2014-08-08 00:00:00

abstract：:Cost-containment in healthcare spending has become a central issue in public policy and healthcare reform, especially as the affordable care act adds millions of people to public and private insurance rolls. In this climate, longstanding criticism of pharmaceutical pricing has grown sharper, and many in both policy an...

journal_title：Orphanet journal of rare diseases

authors： Stella P,Gold-von Simson G

更新日期：2014-10-28 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: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: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:Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%. PATIENTS AND METHODS:We report four cases with transient hydrops fetalis resulting from LS...

journal_title：Orphanet journal of rare diseases

authors： Whybra C,Mengel E,Russo A,Bahlmann F,Kampmann C,Beck M,Eich E,Mildenberger E

更新日期：2012-11-08 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