Krüppel-like zinc finger proteins in end-stage COPD lungs with and without severe alpha1-antitrypsin deficiency.

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：: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:The concept of individual burden, associated with disease, has been introduced recently to determine the "disability" caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). Inherited ichthyosis belong to a large heterogeneous group of Mendelian Disorders of Cor...

journal_title：Orphanet journal of rare diseases

authors： Dufresne H,Hadj-Rabia S,Méni C,Sibaud V,Bodemer C,Taïeb C

更新日期：2013-02-15 00:00:00

abstract：BACKGROUND:Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because only some of the features observed during natural aging are accelerated. METHODS:Since 2015, the M...

journal_title：Orphanet journal of rare diseases

authors： Grelet M,Blanck V,Sigaudy S,Philip N,Giuliano F,Khachnaoui K,Morel G,Grotto S,Sophie J,Poirsier C,Lespinasse J,Alric L,Calvas P,Chalhoub G,Layet V,Molin A,Colson C,Marsili L,Edery P,Lévy N,De Sandre-Giovannoli A

更新日期：2019-12-11 00:00:00

abstract：BACKGROUND:Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Parents are carriers but clinically unaffected, and diseases are rare...

journal_title：Orphanet journal of rare diseases

authors： Komlosi K,Diederich S,Fend-Guella DL,Bartsch O,Winter J,Zechner U,Beck M,Meyer P,Schweiger S

更新日期：2018-01-26 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:Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and pat...

journal_title：Orphanet journal of rare diseases

authors： Guillén-Navarro E,Domingo-Jiménez MR,Alcalde-Martín C,Cancho-Candela R,Couce ML,Galán-Gómez E,Alonso-Luengo O

更新日期：2013-06-25 00:00:00

abstract：BACKGROUND:Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties including autism spectrum disorder, the literature referring to fac...

journal_title：Orphanet journal of rare diseases

authors： Debladis J,Valette M,Strenilkov K,Mantoulan C,Thuilleaux D,Laurier V,Molinas C,Barone P,Tauber M

更新日期：2019-11-15 00:00:00

abstract：BACKGROUND:Major haemoglobinopathies (MH), such as thalassaemia syndromes (Thal) and sickle cell disorders (SCD), are genetic defects associated with chronic anaemia and other complications. In Europe, MH are rare diseases (RD) but their prevalence is significantly growing in many countries due to mobility and migratio...

journal_title：Orphanet journal of rare diseases

authors： Aguilar Martinez P,Angastiniotis M,Eleftheriou A,Gulbis B,Mañú Pereira Mdel M,Petrova-Benedict R,Corrons JL

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:It is now acknowledged that the input of patients in health outcome assessment is vital to understanding the impact of diseases and interventions for those diseases. This study is the first report of patient-reported outcome measures (PROM) in a large cohort of patients with type 1 Gaucher disease (GD1) enab...

journal_title：Orphanet journal of rare diseases

authors： Dinur T,Istaiti M,Frydman D,Becker-Cohen M,Szer J,Zimran A,Revel-Vilk S

更新日期：2020-10-13 00:00:00

abstract：BACKGROUND:Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze possible differences in auxological parameters, carbohydrate and lipid metabolism between two groups of...

journal_title：Orphanet journal of rare diseases

authors： Magill L,Laemmer C,Woelfle J,Fimmers R,Gohlke B

更新日期：2020-10-12 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：: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:The clinical course of Cystic Fibrosis (CF) is usually measured using the percent predicted FEV(1) and BMI Z-score referenced against a healthy population, since achieving normality is the ultimate goal of CF care. Referencing against age and sex matched CF peers may provide valuable information for patients...

journal_title：Orphanet journal of rare diseases

authors： Boëlle PY,Viviani L,Busson PF,Olesen HV,Ravilly S,Stern M,Assael BM,Barreto C,Drevinek P,Thomas M,Krivec U,Mei-Zahav M,Vibert JF,Clement A,Mehta A,Corvol H,French CF Modifier Gene Study Investigators.,European CF Regist

更新日期：2012-09-07 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:Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the QoL of children with SMA and their caregivers and to identify the factors associated with QoL in a ...

journal_title：Orphanet journal of rare diseases

authors： Yao M,Ma Y,Qian R,Xia Y,Yuan C,Bai G,Mao S

更新日期：2021-01-06 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：OBJECTIVES/BACKGROUND:Ataxia with oculomotor apraxia defines a group of genetically distinct recessive ataxias including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene). Although, a few unique clinical features differentiate each of these forms,...

journal_title：Orphanet journal of rare diseases

authors： Nanetti L,Cavalieri S,Pensato V,Erbetta A,Pareyson D,Panzeri M,Zorzi G,Antozzi C,Moroni I,Gellera C,Brusco A,Mariotti C

更新日期：2013-08-14 00:00:00

abstract：:Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000-8000 individuals worldwide. This rare disease is characterized by various vascular defects including epistaxis, blood vessel dilations (telangiectasia) and arteriovenous malformations (AV...

journal_title：Orphanet journal of rare diseases

authors： Robert F,Desroches-Castan A,Bailly S,Dupuis-Girod S,Feige JJ

更新日期：2020-01-07 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：: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:Alleviating the burden of rare diseases requires research into new diagnostic and therapeutic strategies. We undertook a systematic review to identify and compare the impact of stand-alone registries, registries with biobanks, and rare disease biobanks on research outcomes in rare diseases. METHODS:A system...

journal_title：Orphanet journal of rare diseases

authors： Garcia M,Downs J,Russell A,Wang W

更新日期：2018-11-12 00:00:00

abstract：BACKGROUND:Niemann-Pick type C1 disease (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. In this lysosomal storage disorder the intracellular transport and sequestration of several lipids like cholesterol is severely impaired, resulting in an accumulation of lipids in late e...

journal_title：Orphanet journal of rare diseases

authors： Trilck M,Hübner R,Seibler P,Klein C,Rolfs A,Frech MJ

更新日期：2013-09-18 00:00:00

abstract：BACKGROUND:Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate (NAG) synthase. Rapid reduction in plasma ammonia is requir...

journal_title：Orphanet journal of rare diseases

authors： Valayannopoulos V,Baruteau J,Delgado MB,Cano A,Couce ML,Del Toro M,Donati MA,Garcia-Cazorla A,Gil-Ortega D,Gomez-de Quero P,Guffon N,Hofstede FC,Kalkan-Ucar S,Coker M,Lama-More R,Martinez-Pardo Casanova M,Molina A,Picha

更新日期：2016-03-31 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：: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: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: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：: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:Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3...

journal_title：Orphanet journal of rare diseases

authors： Mercier S,Küry S,Salort-Campana E,Magot A,Agbim U,Besnard T,Bodak N,Bou-Hanna C,Bréhéret F,Brunelle P,Caillon F,Chabrol B,Cormier-Daire V,David A,Eymard B,Faivre L,Figarella-Branger D,Fleurence E,Ganapathi M,Gherard

更新日期：2015-10-15 00:00:00