Abstract：
BACKGROUND:Sporadic inclusion body myositis (sIBM) is the most prevalent acquired muscle disease in the elderly. sIBM is an intractable and progressive disease of unknown cause and without effective treatment. The etiology of sIBM is still unknown; however, genetic factors, aging, lifestyles, and environmental factors may be involved. The purpose of this study is to elucidate the cross-sectional profile of patients affected by sIBM in Japan. METHODS:We surveyed patient data for 146 cases diagnosed at a number of centers across Japan. We also issued a questionnaire for 67 patients and direct caregivers to further elucidate the natural history of the disease. RESULTS:The mean age at the onset was 63.4 ± 9.2 years. The mean length of time from the onset to diagnosis was 55.52 ± 49.72 months, suggesting that there is a difficulty in diagnosing this disease with long-term consequences because of late treatment. 73 % described the psychological/mental aspect of the disease. The most popular primary caregiver was the patient's spouse and 57 % patients mentioned that they were having problems managing the finances. CONCLUSIONS:Through these surveys, we described the cross-sectional profiles of sIBM in Japan. Many patients described psychological/mental and financial anxiety because of the aged profile of sIBM patients. The profiles of sIBM patients are similar to those in Western countries.
journal_name
Orphanet J Rare Disjournal_title
Orphanet journal of rare diseasesauthors
Suzuki N,Mori-Yoshimura M,Yamashita S,Nakano S,Murata KY,Inamori Y,Matsui N,Kimura E,Kusaka H,Kondo T,Higuchi I,Kaji R,Tateyama M,Izumi R,Ono H,Kato M,Warita H,Takahashi T,Nishino I,Aoki Mdoi
10.1186/s13023-016-0524-xsubject
Has Abstractpub_date
2016-11-08 00:00:00pages
146issue
1issn
1750-1172pii
10.1186/s13023-016-0524-xjournal_volume
11pub_type
杂志文章,多中心研究abstract：BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscle disorder, which is linked to the contraction of the D4Z4 array at chromosome 4q35. Recent studies suggest that this shortening of the D4Z4 array leads to aberrant expression of double homeobox protein 4 (DUX4) and causes FSHD. In a...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-8-55
更新日期：2013-04-05 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
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-1-22
更新日期：2006-06-26 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
pub_type： 杂志文章
doi：10.1186/s13023-015-0352-4
更新日期：2015-10-15 00:00:00
abstract：:Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Patients present with h...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-7-32
更新日期：2012-05-29 00:00:00
abstract：:The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic a...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-019-1186-2
更新日期：2019-11-21 00:00:00
abstract：BACKGROUND:Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-016-0521-0
更新日期：2016-10-10 00:00:00
abstract：:Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seve...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-016-0458-3
更新日期：2016-06-10 00:00:00
abstract：BACKGROUND:In 2010, the time on the lung transplant waiting list in Nantes University Hospital (NUH) was 9.2 months, compared to a French national median of about 4 months. The NUH transplant unit performs both heart and lung transplantations, which can be seen as competing activities. To fix the problem, the adult Cys...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-017-0748-4
更新日期：2018-02-08 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
pub_type： 杂志文章,评审
doi：10.1186/s13023-018-0776-8
更新日期：2018-02-23 00:00:00
abstract：BACKGROUND:Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive progressive multiorgan disorder due to mutation in the gene encoding the enzyme Arylsulfatase B (ARSB). Dysfunctional ARSB causes lysosomal accumulation of glycosaminoglycans (GAG). Currently, enzyme replacement therapy (ERT) is preferred to hematop...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-8-134
更新日期：2013-09-05 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
pub_type： 杂志文章
doi：10.1186/s13023-015-0298-6
更新日期：2015-06-30 00:00:00
abstract：BACKGROUND:It has been suggested that ultra-rare diseases should be recognized as distinct from more prevalent rare diseases, but how drugs developed to treat ultra-rare diseases (DURDs) might be distinguished from drugs for 'other' rare diseases (DORDs) is not clear. We compared the characteristics of DURDs to DORDs f...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-018-0762-1
更新日期：2018-02-01 00:00:00
abstract：BACKGROUND:Orphan designated medicinal products benefit from regulatory and economic incentives for orphan drug development. Approximately 40% of orphan designations target rare neoplastic disorders, referring to rare cancers. In order to provide more insights in drugs for rare neoplastic disorders that are under devel...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-017-0578-4
更新日期：2017-02-16 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
pub_type： 杂志文章
doi：10.1186/s13023-019-1162-x
更新日期：2019-08-14 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
pub_type： 杂志文章
doi：10.1186/s13023-020-01533-2
更新日期：2020-09-22 00:00:00
abstract：BACKGROUND:Charcot-Marie-Tooth type 1A disease (CMT1A) is a rare orphan inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for the structural myelin protein PMP22, which induces abnormal Schwann cell differentiation and dysmyelination, eventually leading to axonal suffering then loss an...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1186/s13023-014-0199-0
更新日期：2014-12-18 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
pub_type： 杂志文章,评审
doi：10.1186/s13023-019-1281-4
更新日期：2020-01-07 00:00:00
abstract：:Medical student training is largely focused on acquiring knowledge of diseases and their management, which may leave one with a naïve perception of what is achievable in practice, particularly in the field of rare diseases. Tumour Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is a rare autoinflammatory...
journal_title：Orphanet journal of rare diseases
pub_type： 信件
doi：10.1186/s13023-018-0774-x
更新日期：2018-02-27 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
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-1-28
更新日期：2006-07-26 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
pub_type： 杂志文章,随机对照试验
doi：10.1186/1750-1172-6-47
更新日期：2011-06-24 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
pub_type： 杂志文章
doi：10.1186/s13023-016-0550-8
更新日期：2017-01-05 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
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-4-1
更新日期：2009-01-08 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
pub_type： 杂志文章,评审
doi：10.1186/1750-1172-8-162
更新日期：2013-10-16 00:00:00
abstract：BACKGROUND:There are an established and growing number of Mendelian genetic causes for chronic kidney disease (CKD) in adults, though estimates of prevalence have been speculative. The CKD Queensland (CKD.QLD) registry enables partial clarification of this through the study of adults with CKD receiving nephrology care ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/1750-1172-9-98
更新日期：2014-06-30 00:00:00
abstract：:Paediatric chordomas are rare malignant tumours arising from primitive notochordal remnants with a high rate of recurrence. Only 5 % of them occur in the first two decades such less than 300 paediatric cases have been reported so far in the literature. In children, the average age at diagnosis is 10 years with a male-...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-015-0340-8
更新日期：2015-09-22 00:00:00
abstract：BACKGROUND:Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible for classic galactosemia have been described to give rise to variants with con...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-018-0954-8
更新日期：2018-11-26 00:00:00
abstract：:Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章,评审
doi：10.1186/s13023-018-0972-6
更新日期：2019-01-03 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
pub_type： 杂志文章
doi：10.1186/s13023-020-1325-9
更新日期：2020-02-13 00:00:00
abstract：BACKGROUND:Myotonic dystrophy type 1 (Steinert's disease or DM1), the most common form of autosomal dominant muscular dystrophy in adults, is a multisystem disorder, affecting skeletal muscle as well as eyes, heart, gastrointestinal tract, endocrine system, and central nervous system, finally responsible of increasing ...
journal_title：Orphanet journal of rare diseases
pub_type： 杂志文章
doi：10.1186/s13023-016-0417-z
更新日期：2016-04-04 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
pub_type： 杂志文章
doi：10.1186/s13023-014-0124-6
更新日期：2014-08-01 00:00:00
