Does the route of immunoglobin replacement therapy impact quality of life and satisfaction in patients with primary immunodeficiency? Insights from the French cohort "Visages".

abstract：BACKGROUND:Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review was to investigate the incidence and profile of cognitive impairments in patients with classical gal...

journal_title：Orphanet journal of rare diseases

authors： Hermans ME,Welsink-Karssies MM,Bosch AM,Oostrom KJ,Geurtsen GJ

更新日期：2019-10-18 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：: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：BACKGROUND:Prader-Willi syndrome (PWS) is often related to severe obesity and type-2 diabetes mellitus (T2DM). However, few studies, and none in Korea, have examined prevalence of T2DM and other variables in PWS. The aim of this study was to identify the prevalence and associated risk factors for T2DM in Korean patient...

journal_title：Orphanet journal of rare diseases

authors： Yang A,Kim J,Cho SY,Jin DK

更新日期：2017-08-30 00:00:00

abstract：BACKGROUND:Müllerian aplasia (MA) characterized by congenital loss of functional uterus and vagina is one of the most difficult disorders of female reproductive health. Despite of growing interest in this research field, the cause of the disorder for the majority of patients is still unknown. A recent report of partial...

journal_title：Orphanet journal of rare diseases

authors： Sandbacka M,Halttunen M,Jokimaa V,Aittomäki K,Laivuori H

更新日期：2011-08-02 00:00:00

abstract：BACKGROUND:The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype, Parkinson-like phenotype). RESULTS:Here, we report on a subject who pr...

journal_title：Orphanet journal of rare diseases

authors： Vantroys E,Smet J,Vanlander AV,Vergult S,De Bruyne R,Roels F,Stepman H,Roeyers H,Menten B,Van Coster R

更新日期：2018-05-21 00:00:00

abstract：:Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many critical roles in the human organism. A defect in GLUL, encoding for GS, leads to congenital systemic glutamine d...

journal_title：Orphanet journal of rare diseases

authors： Häberle J,Shahbeck N,Ibrahim K,Schmitt B,Scheer I,O'Gorman R,Chaudhry FA,Ben-Omran T

更新日期：2012-07-25 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: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:X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined treatment with the ACE-inhibitor enalapril and the β-blocker metoprolol in a German cohort of infant...

journal_title：Orphanet journal of rare diseases

authors： Dittrich S,Graf E,Trollmann R,Neudorf U,Schara U,Heilmann A,von der Hagen M,Stiller B,Kirschner J,Pozza RD,Müller-Felber W,Weiss K,von Au K,Khalil M,Motz R,Korenke C,Lange M,Wilichowski E,Pattathu J,Ebinger F,Wiec

更新日期：2019-05-10 00:00:00

abstract：BACKGROUND:Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient's quality of life (QOL). The aim of this study was t...

journal_title：Orphanet journal of rare diseases

authors： Hatano T,Ohno Y,Imai Y,Moritake J,Endo K,Tamari M,Egawa S

更新日期：2020-06-01 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：:Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis...

journal_title：Orphanet journal of rare diseases

authors： Levitt MA,Peña A

更新日期：2007-07-26 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：:Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevalence is found in preterm infants, especially those with low birth weight. The female to male ratio is 2:1. Most...

journal_title：Orphanet journal of rare diseases

authors： Forsey JT,Elmasry OA,Martin RP

更新日期：2009-07-10 00:00:00

abstract：BACKGROUND:Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent uncertainty of its pathophysiological and epidemiological characteristics. The purpose of the current s...

journal_title：Orphanet journal of rare diseases

authors： Jia JL,Chen S,Sivarajah V,Stephens D,Cortez MA

更新日期：2018-11-29 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：BACKGROUND:The purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry. METHODS:Among 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 patients with autosomal...

journal_title：Orphanet journal of rare diseases

authors： Desplantes C,Fremond ML,Beaupain B,Harousseau JL,Buzyn A,Pellier I,Roques G,Morville P,Paillard C,Bruneau J,Pinson L,Jeziorski E,Vannier JP,Picard C,Bellanger F,Romero N,de Pontual L,Lapillonne H,Lutz P,Chantelot CB

更新日期：2014-12-10 00:00:00

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:Rare diseases can lead to a significant reduction in quality of life for patients and their families. Ensuring the patients voice is central to clinical decision making is key to delivering, evaluating and understanding the efficacy of therapeutic interventions. Patient reported outcome measures (PROMs) are ...

journal_title：Orphanet journal of rare diseases

authors： Slade A,Isa F,Kyte D,Pankhurst T,Kerecuk L,Ferguson J,Lipkin G,Calvert M

更新日期：2018-04-23 00:00:00

abstract：BACKGROUND:Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment. The management of PKU should start as soon as possible after diagno...

journal_title：Orphanet journal of rare diseases

authors： Trefz KF,Muntau AC,Kohlscheen KM,Altevers J,Jacob C,Braun S,Greiner W,Jha A,Jain M,Alvarez I,Lane P,Schröder C,Rutsch F

更新日期：2019-07-22 00:00:00

abstract：BACKGROUND:Behçet's Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patients' quality of life. Other clinical manifestations include ocular inflammation, rheumatologic and ski...

journal_title：Orphanet journal of rare diseases

authors： Senusi A,Seoudi N,Bergmeier LA,Fortune F

更新日期：2015-09-22 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:Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of alveolar hemorrhage in children and its pathophysiology remains obscure. Classically, diagnosis is based on a triad including hemoptysis, diffuse parenchymal infiltrates on chest X-rays, and iron-deficiency anemia. We present the French pediatric co...

journal_title：Orphanet journal of rare diseases

authors： Taytard J,Nathan N,de Blic J,Fayon M,Epaud R,Deschildre A,Troussier F,Lubrano M,Chiron R,Reix P,Cros P,Mahloul M,Michon D,Clement A,Corvol H,French RespiRare® group.

更新日期：2013-10-14 00:00:00

abstract：BACKGROUND:Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects ...

journal_title：Orphanet journal of rare diseases

authors： Széll N,Fehér T,Maróti Z,Kalmár T,Latinovics D,Nagy I,Orosz ZZ,Janáky M,Facskó A,Sohajda Z

更新日期：2021-01-22 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：:The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in addition to helping strengthen liaison at both European and International...

journal_title：Orphanet journal of rare diseases

authors： Aymé S,Rodwell C

更新日期：2014-02-28 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：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：: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