Syndromic (phenotypic) diarrhea in early infancy.

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

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：:Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an acquired and progressive dystrophy of the ventricular myocardium with fibro-fatty replacement. Due to an estimated prevalence of 1:2000-1:5000, AC is listed among r...

journal_title：Orphanet journal of rare diseases

authors： Pilichou K,Thiene G,Bauce B,Rigato I,Lazzarini E,Migliore F,Perazzolo Marra M,Rizzo S,Zorzi A,Daliento L,Corrado D,Basso C

更新日期：2016-04-02 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:Currently, clinical trials for new therapeutic strategies are being planned for Duchenne and Becker muscular dystrophies (DMD/BMD). However, it is difficult to obtain adequate numbers of patients in clinical trials. As solutions to these problems, patient registries are an important resource worldwide, espec...

journal_title：Orphanet journal of rare diseases

authors： Nakamura H,Kimura E,Mori-Yoshimura M,Komaki H,Matsuda Y,Goto K,Hayashi YK,Nishino I,Takeda S,Kawai M

更新日期：2013-04-19 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

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:Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especially the contribution of glial cells and gliosis to the progression of NPC1, are controversially dis...

journal_title：Orphanet journal of rare diseases

authors： Peter F,Rost S,Rolfs A,Frech MJ

更新日期：2017-08-25 00:00:00

abstract：BACKGROUND:Most orphan drugs do not meet traditional standards of cost-effectiveness. Yet, most orphan drugs are reimbursed, which implies that other factors are taken into account at the time of reimbursement. To increase accountability of decision-makers, there is a need for more transparency in the factors that play...

journal_title：Orphanet journal of rare diseases

authors： Picavet E,Cassiman D,Simoens S

更新日期：2014-09-12 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：OBJECTIVE:High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneuropathy (AMN) by HRUS. METHODS:Thirteen adults with genetically proven AMN were examined using the Ultr...

journal_title：Orphanet journal of rare diseases

authors： Rattay TW,Just J,Röben B,Hengel H,Schüle R,Synofzik M,Söhn AS,Winter N,Dammeier N,Schöls L,Grimm A

更新日期：2018-11-03 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: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：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：BACKGROUND:Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and is also associated with autism spectrum disorders. Previous studies implicated BKCa channels in the neuropathogenesis of FXS, but the main question was whether pharmacological BKCa stimulation would be able to rescue FX...

journal_title：Orphanet journal of rare diseases

authors： Hébert B,Pietropaolo S,Même S,Laudier B,Laugeray A,Doisne N,Quartier A,Lefeuvre S,Got L,Cahard D,Laumonnier F,Crusio WE,Pichon J,Menuet A,Perche O,Briault S

更新日期：2014-08-01 00:00:00

abstract：:After publication of this article [1], it is noticed reference no. 17 was incorrectly provided, details are shown below. ...

journal_title：Orphanet journal of rare diseases

authors： Pittaway JFH,Harrison C,Rhee Y,Holder-Espinasse M,Fryer AE,Cundy T,Drake WM,Irving MD

更新日期：2019-05-10 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：:Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder characterized by the principal features of callosal agenesis, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, and a combined immunodeficiency. Profound developmental delay, progressive failure to thrive and acquired microceph...

journal_title：Orphanet journal of rare diseases

authors： Byrne S,Dionisi-Vici C,Smith L,Gautel M,Jungbluth H

更新日期：2016-02-29 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：:Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 bir...

journal_title：Orphanet journal of rare diseases

authors： Davit-Spraul A,Gonzales E,Baussan C,Jacquemin E

更新日期：2009-01-08 00:00:00

abstract：BACKGROUND:Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification caused by a highly recurrent R206H mutation in ACVR1/ALK2. This mutation causes ...

journal_title：Orphanet journal of rare diseases

authors： Kou S,De Cunto C,Baujat G,Wentworth KL,Grogan DR,Brown MA,Di Rocco M,Keen R,Al Mukaddam M,le Quan Sang KH,Masharani U,Kaplan FS,Pignolo RJ,Hsiao EC

更新日期：2020-07-29 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:Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving the detection rate for AATD is therefore a high priority for the Alpha-1 Foundation. A workshop was h...

journal_title：Orphanet journal of rare diseases

authors： Brantly M,Campos M,Davis AM,D'Armiento J,Goodman K,Hanna K,O'Day M,Queenan J,Sandhaus R,Stoller J,Strange C,Teckman J,Wanner A

更新日期：2020-04-19 00:00:00

abstract：:Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, which evolved over nine years. Symptoms started in the left hand and slowly involved the four limbs. Investi...

journal_title：Orphanet journal of rare diseases

authors： Camdessanché JP,Belzil VV,Jousserand G,Rouleau GA,Créac'h C,Convers P,Antoine JC

更新日期：2011-02-05 00:00:00

abstract：AIM:To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis. BACKGROUND:FD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alpha-galactosidase-A (α-GAL-A). Affected individuals are at risk of developing small-fibre neurop...

journal_title：Orphanet journal of rare diseases

authors： Jahan S,Sarathchandran S,Akhter S,Goldblatt J,Stark S,Crawford D,Mallett A,Thomas M

更新日期：2020-01-13 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:Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y+LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are hete...

journal_title：Orphanet journal of rare diseases

authors： Mauhin W,Habarou F,Gobin S,Servais A,Brassier A,Grisel C,Roda C,Pinto G,Moshous D,Ghalim F,Krug P,Deltour N,Pontoizeau C,Dubois S,Assoun M,Galmiche L,Bonnefont JP,Ottolenghi C,de Blic J,Arnoux JB,de Lonlay P

更新日期：2017-01-05 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: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：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