Alpha-1 antitrypsin deficiency: outstanding questions and future directions.

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：BACKGROUND:Lysosomal acid lipase deficiency (LALD) is an autosomal recessive inborn error of lipid metabolism characterized by impaired lysosomal hydrolysis and consequent accumulation of cholesteryl esters and triglycerides. The phenotypic spectrum is diverse, ranging from severe, neonatal onset failure to thrive, hep...

journal_title：Orphanet journal of rare diseases

authors： Pritchard AB,Strong A,Ficicioglu C

更新日期：2020-02-24 00:00:00

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: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：: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：:Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations of the RAB3GAP1 (RAB3 GTPase-activating protein 1), RAB3GAP2, RAB18 (RAS-associated protein RAB18), or TBC1D20 ...

journal_title：Orphanet journal of rare diseases

authors： Picker-Minh S,Busche A,Hartmann B,Spors B,Klopocki E,Hübner C,Horn D,Kaindl AM

更新日期：2014-10-21 00:00:00

abstract：BACKGROUND:Dravet syndrome (DS) is currently considered as an epileptic encephalopathy, a condition in which epilepsy causes deterioration or developmental delay but preliminary data suggested that cognitive course may worsen independently from epilepsy. Our objective was to prospectively analyze the neuropsychological...

journal_title：Orphanet journal of rare diseases

authors： Nabbout R,Chemaly N,Chipaux M,Barcia G,Bouis C,Dubouch C,Leunen D,Jambaqué I,Dulac O,Dellatolas G,Chiron C

更新日期：2013-11-13 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：BACKGROUND:Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10...

journal_title：Orphanet journal of rare diseases

authors： Ravn K,Roende G,Duno M,Fuglsang K,Eiklid KL,Tümer Z,Nielsen JB,Skjeldal OH

更新日期：2011-08-30 00:00:00

abstract：BACKGROUND:Severe to profound sensorineural hearing loss (SNHL) requires cochlear implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy selection and decision-making regarding the timing of successful CI. However, few studies have been performed to address the etiologic spectrum...

journal_title：Orphanet journal of rare diseases

authors： Park JH,Kim NK,Kim AR,Rhee J,Oh SH,Koo JW,Nam JY,Park WY,Choi BY

更新日期：2014-11-06 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：: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: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:Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the dentition. The disease is life-threatening when manifesting withi...

journal_title：Orphanet journal of rare diseases

authors： Rush ET

更新日期：2018-07-16 00:00:00

abstract：:Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. Males and females are almost equally affected. The multi systemic form of ECD is associated with significant morbidity, which may aris...

journal_title：Orphanet journal of rare diseases

authors： Mazor RD,Manevich-Mazor M,Shoenfeld Y

更新日期：2013-09-08 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: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：: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:Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized. PATIENTS AND METHODS:Here...

journal_title：Orphanet journal of rare diseases

authors： Leoni C,Romeo DM,Pelliccioni M,Di Già M,Onesimo R,Giorgio V,Flex E,Tedesco M,Tartaglia M,Rigante D,Valassina A,Zampino G

更新日期：2021-01-22 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：:Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains ni...

journal_title：Orphanet journal of rare diseases

authors： Nie S,Chen G,Cao X,Zhang Y

更新日期：2014-11-26 00:00:00

abstract：:The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders have triggered the search for clinically relevant biomarkers and clinical markers associated with ...

journal_title：Orphanet journal of rare diseases

authors： Hendriksz CJ,Berger KI,Lampe C,Kircher SG,Orchard PJ,Southall R,Long S,Sande S,Gold JI

更新日期：2016-08-26 00:00:00

abstract：:Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and mu...

journal_title：Orphanet journal of rare diseases

authors： Jelsig AM,Qvist N,Brusgaard K,Nielsen CB,Hansen TP,Ousager LB

更新日期：2014-07-15 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: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: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：BACKGROUND:A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme. The model was based upon the UK National Health Service (NHS) Newborn Blood Spot Screening Programme ...

journal_title：Orphanet journal of rare diseases

authors： Bessey A,Chilcott JB,Leaviss J,Sutton A

更新日期：2018-10-11 00:00:00

abstract：BACKGROUND:Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by sclerosing leukoencephalopathy and multifocal bone cysts, caused by a loss-of-function mutation of either DAP12 or TREM2. TREM2 and DAP12 constitute a receptor/adaptor signaling complex expressed exclusively on osteoclasts, den...

journal_title：Orphanet journal of rare diseases

authors： Satoh J,Motohashi N,Kino Y,Ishida T,Yagishita S,Jinnai K,Arai N,Nakamagoe K,Tamaoka A,Saito Y,Arima K

更新日期：2014-05-01 00:00:00

abstract：BACKGROUND:Skin neurofibromas represent one of the main clinical manifestations of neurofibromatosis 1, and their number varies greatly between individuals. Quantifying their number is an important step in the methodology of many clinical studies, but counting neurofibromas one by one in individuals with thousands of t...

journal_title：Orphanet journal of rare diseases

authors： Cunha KS,Rozza-de-Menezes RE,Andrade RM,Theos A,Luiz RR,Korf B,Geller M

更新日期：2014-12-05 00:00:00

abstract：:Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several countries and the first plant cell-expressed recombinant therapeutic protein approved by the US Food and Drug Administration for humans. Here, we review the find...

journal_title：Orphanet journal of rare diseases

authors： Zimran A,Wajnrajch M,Hernandez B,Pastores GM

更新日期：2018-02-23 00:00:00