Intractable & Rare Diseases Research
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Volume 4 , Issue 1
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Reviews
  • Ahmad H Ali, Elizabeth J Carey, Keith D Lindor
    Volume 4 (2015) Issue 1 Pages 1-6
    Released: February 05, 2015
    [Advance publication] Released: November 13, 2014
    JOURNALS FREE ACCESS
    Primary sclerosing cholangitis (PSC) is a progressive disease of the liver characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts, leading to fibrosis and ultimately liver failure, cirrhosis and an increased risk of malignancy. The etiology of PSC is unclear. It is often associated with the inflammatory bowel diseases (IBD), particularly Ulcerative Colitis (UC); up to 75% of PSC patients have UC. PSC is more prevalent in men than in women. Ursodeoxycholic acid (UDCA) has been extensively studied in PSC in randomized clinical trials but failed to show a positive impact on the natural course of the disease. Currently, there is no effective medical therapy for PSC, and the majority of patients will eventually require liver transplantation. PSC is one of the leading indications for liver transplantation. In this paper, we review the current research on the potential therapeutic agents for the treatment of PSC.
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  • Silvia Onoda Tomikawa, Joaquim Carlos Rodrigues
    Volume 4 (2015) Issue 1 Pages 7-11
    Released: February 05, 2015
    [Advance publication] Released: December 25, 2014
    JOURNALS FREE ACCESS
    Bronchiolitis obliterans (BO) is a rare but severe disease, characterized by inflammation and fibrosis of the terminal bronchioles. BO in children usually occurs after a severe lung viral infection. Diagnosis is based on clinical history of acute bronchiolitis followed by persistent obstruction of the airways and characteristic findings in HRCT. There is no consensus on treatment beyond supportive measures, but bronchodilators and corticosteroids are often used. This review describes the clinical and radiological characteristics and outcomes of BO in pediatric patients, with an emphasis on current research in Brazil.
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  • Jing Han, Qintong Xu, Yi Yang, Zhengjun Yao, Chi Zhang
    Volume 4 (2015) Issue 1 Pages 12-16
    Released: February 05, 2015
    JOURNALS FREE ACCESS
    Adolescent idiopathic scoliosis (AIS) is a common disease leading to spinal deformity in children ages 10 and over. With advances in the study of health-related quality of life (HRQoL), greater attention has been given to the quality of life (QoL) of patients with AIS and their perception of deformity instead of just focusing on improving the rate of surgical correction. This article provides an overview of the methods of evaluating HRQoL and it analyzes several main factors affecting QoL, such as severity of disease, method of treatment, gender, and social environment, based on previous studies of patients with AIS. The authors believe that radiological studies should no longer be taken as the only indicator of postoperative therapeutic evaluation and hope to build a new evaluation system with assessment of QoL for patients with AIS.
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  • Joe C. H. Sim, Susan M White, Paul J. Lockhart
    Volume 4 (2015) Issue 1 Pages 17-23
    Released: February 05, 2015
    [Advance publication] Released: December 14, 2014
    JOURNALS FREE ACCESS
    Mutations in the gene encoding AT-rich interactive domain-containing protein 1B (ARID1B) were recently associated with multiple syndromes characterized by developmental delay and intellectual disability, in addition to nonsyndromic intellectual disability. While the majority of ARID1B mutations identified to date are predicted to result in haploinsufficiency, the underlying pathogenic mechanisms have yet to be fully understood. ARID1B is a DNA-binding subunit of the Brahma-associated factor chromatin remodelling complexes, which play a key role in the regulation of gene activity. The function of remodelling complexes can be regulated by their subunit composition, and there is some evidence that ARID1B is a component of the neuron-specific chromatin remodelling complex. This complex is involved in the regulation of stem/progenitor cells exiting the cell cycle and differentiating into postmitotic neurons. Recent research has indicated that alterations in the cell cycle contribute to the underlying pathogenesis of syndromes associated with ARID1B haploinsufficiency in fibroblasts derived from affected individuals. This review describes studies linking ARID1B to neurodevelopmental disorders and it summarizes the function of ARID1B to provide insights into the pathogenic mechanisms underlying ARID1B-mediated disorders. In conclusion, ARID1B is likely to play a key role in neurodevelopment and reduced levels of wild-type protein compromise normal brain development. Additional studies are required to determine the mechanisms by which impaired neural development contributes to the intellectual disability and speech impairment that are consistently observed in individuals with ARID1B haploinsufficiency.
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  • Nobuhisa Akamatsu, Yasuhiko Sugawara, Norihiro Kokudo
    Volume 4 (2015) Issue 1 Pages 24-32
    Released: February 05, 2015
    [Advance publication] Released: January 05, 2015
    JOURNALS FREE ACCESS
    Budd-Chiari syndrome involves obstruction of hepatic venous outflow tracts at various levels from small hepatic veins to the inferior vena cava and is the result of thrombosis or its fibrous sequelae. There is a conspicuous difference in its etiology in the West and the East. Myeloproliferative disease predominates in the West and obstruction of the vena cava predominates in the East. The clinical presentation and clinical manifestations are so varied that it should be suspected in any patient with acute or chronic liver dysfunction. It should be treated with step-wise management. First-line therapy should be anticoagulation with medical treatment of the underlying illness, and interventional revascularization and TIPS are indicated in the event of a lack of response to medical therapy. Liver transplantation may be indicated as a rescue treatment or for fulminant cases with promising results. This step-by-step strategy has achieved a 5-year transplant-free survival rate of 70% and a 5-year overall survival rate of 90%. Living donor liver transplantation can also be used for patients with Budd-Chiari syndrome if deceased donor livers are scarce, but it requires a difficult procedure particularly with regard to venous outflow reconstruction.
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  • Tomohiro Tanaka, Yasuhiko Sugawara, Norihiro Kokudo
    Volume 4 (2015) Issue 1 Pages 33-38
    Released: February 05, 2015
    JOURNALS FREE ACCESS
    Liver Transplantation (LT) is an effective treatment for patients with end-stage liver disease including autoimmune hepatitis (AIH). Indication for LT for AIH does not differ basically from other liver diseases including both acute and chronic types of disease progression, although it is reported to be an infrequent indication for LT worldwide due to the therapeutic advances of immunosuppression. The outcome following LT is feasible, with current patient and graft survival exceeding 75% at 5 years. Recurrent and de-novo AIH posttranslant has also been reported; and this seems to have important clinical implications because its management differs from the standard treatment for allograft rejection. In this review, we discuss the characteristics of AIH, focusing on the indication for LT and issues raised following LT.
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  • Xiaowei Jin, Li Chen
    Volume 4 (2015) Issue 1 Pages 39-48
    Released: February 05, 2015
    JOURNALS FREE ACCESS
    Recognized as the most common inherited from of intellectual disability (ID) and the most common known monogenic cause of autism spectrum disorders (ASD), Fragile X syndrome (FXS) is identified as an unmet medical need for the development of personalized medicine and targeted therapeutics for neurodevelopment disorders as a result of improved understanding of the genetic and cellular mechanisms. Consequently promising pharmacological targets have emerged from basic and translational research, are now being pursued by global pharmaceutical and biotech companies in early proof-of-concept clinical trials. With the world's largest rare disease population, China potentially has a large number of FXS patients, many of whom are under-diagnosed or even misdiagnosed, barely with any treatment. In spite of improved awareness of FXS in recent years, big gaps still exist between China and developed countries in multiple aspects. With increased public awareness, strong government support and investment, coupled with an increasingly large number of Western-trained experienced researchers engaging in new drug discovery and development, China has the potential to become an important player in the discovery of effective diagnostics and treatments for a rare disease like FXS.
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Original Articles
  • Xianlong Shi, Yanqin Lu, Yanzhou Wang, Yu-ang Zhang, Yuanwei Teng, Wan ...
    Volume 4 (2015) Issue 1 Pages 49-53
    Released: February 05, 2015
    JOURNALS FREE ACCESS
    Osteogenesis imperfecta (OI) is an inheritable connective tissue disorder with a broad clinical heterozygosis, which can be complicated by other connective tissue disorders like Ehlers-Danlos syndrome (EDS). OI/EDS are rarely documented. Most OI/EDS mutations are located in the N-anchor region of type I procollagen and predominated by glycine substitution. We identified a c.3521C>T (p.A1174V) heterozygous mutation in COL1A1 gene in a four-generation pedigree with proposed mild OI/EDS phenotype. The affected individuals had blue sclera and dentinogenesis imperfecta (DI) was uniformly absent. The OI phenotype varied from mild to moderate, with the absence of scoliosis and increased skin extensibility. Easy bruising, joint dislocations and high Beighton score were present in some affected individuals. EDS phenotype is either mild or unremarkable in some individuals. The mutation is poorly conserved and in silico prediction support the relatively mild phenotype. The molecular mechanisms of the mutation that leads to the possible OI/EDS phenotype should be further identified by biochemical analysis of N-propeptide processing and steady state collagen analysis.
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  • Jialiang Shao, Jiangang Hou, Bingkun Li, Dongyang Li, Ning Zhang, Xian ...
    Volume 4 (2015) Issue 1 Pages 54-59
    Released: February 05, 2015
    JOURNALS FREE ACCESS
    Mutations of androgen receptor (AR) are the most frequent cause of 46, XY disorders of sex development and associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome (CAIS)) to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). From 2009 to 2012, two young Chinese female individuals with CAIS from two families were referred to our hospital due to primary amenorrhea. Defects in testosterone (T) and dihydrotestosterone (DHT) synthesis were excluded. Physical examination revealed that the patients have normal female external genitalia, normal breast development, vellus hair in the axilla and on the arms and legs, but absence of pubic hair, and a blind-ending vagina. Two different types of AR mutations have been detected by sequencing of genomic DNA: Family A showed deletion of exon 2 in AR gene; Family B showed a single nucleotide C-to-T transition in exon 8 of AR gene resulting in a proline 893-to-leucine substitution (Pro893Leu). Testicular histology showed developmental immaturity of seminiferous tubules with the absence of spermatogenic cells or spermatozoa. No AR immunoreactivity was observed in either case. Three adult patients recovered well from bilateral orchiectomy. The juvenile patient of family B was followed up. Our present study on these two families revealed two different types of AR mutation. The definitive diagnosis of AIS was based on clinical examination and genetic investigations. Our findings verified the mechanism of CAIS and also enriched AR Gene Mutation Database.
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Case Report
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