Intractable & Rare Diseases Research
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Volume 1 , Issue 2
Showing 1-7 articles out of 7 articles from the selected issue
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Policy Forum
  • Shiwei Gong, Si Jin
    Volume 1 (2012) Issue 2 Pages 45-52
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Currently, the issues of how to treat rare diseases and to improve accessibility to orphan drugs are arousing more and more concerns in China. Here we describe the push and pull incentive policies for rare diseases and orphan drugs and analyze the coverage and reimbursement level of rare diseases in the current Chinese medical insurance system. Three key obstacle factors that hinder Chinese patients' accessibility to timely drug treatment are summarized. Based on a comprehensive analysis, the measures of orphan drugs legislation, incentive mechanism, supply mechanism, and reimbursement mechanism are urgently expected to be established with the purpose of improving healthcare for patients with rare diseases in China.
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Reviews
  • Changjin Yuan, Guanhua Song, Guosheng Jiang
    Volume 1 (2012) Issue 2 Pages 53-65
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Usually, an effective anti-leukemia immune response cannot be initiated effectively in patients with leukemia. This is probably related to immunosuppression due to chemotherapy, down-regulation of major histocompatibility complex (MHC) II molecules, and the lack of co-stimulatory molecules on dendritic cells (DC). In light of this problem, some methods had been used to induce leukemia cells to differentiate into mature DCs, causing them to present leukemia-associated antigens and activating naïve T cells. Furthermore, leukemia-derived DCs could be modified with tumor antigens or tumorassociated antigens to provide a new approach to anti-leukemia therapy. Numerous studies have indicated factors related to the induction and functioning of leukemiaderived DCs and the activation of cytotoxic T-lymphocytes (CTLs). These include the amount of purified DCs, cytokine profiles appropriate for inducing leukemia-derived DCs, effective methods of activating CTLs, reasonable approaches to DC vaccines, and the standardization of their clinical use. Determining these factors could lead to more effective leukemia treatment and benefit both mankind and scientific development. What follows in a review of advances in and practices of inducing leukemia-derived DCs and the feasibility of their clinical use.
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  • Nobuhisa Akamatsu, Yasuhiko Sugawara
    Volume 1 (2012) Issue 2 Pages 66-80
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Primary biliary cirrhosis (PBC) is an immune-mediated chronic progressive inflammatory liver disease, predominantly affecting middle-aged women, characterized by the presence of antimitochondrial antibodies (AMAs), which can lead to liver failure. Genetic contributions, environmental factors including chemical and infectious xenobiotics, autoimmunity and loss of tolerance have been aggressively investigated in the pathogenesis of PBC, however, the actual impact of these factors is still controversial. Survival of PBC patients has been largely improved with the widespread use of ursodeoxycholic acid (UDCA), however, one third of patients still do not respond to the treatment and proceed to liver cirrhosis, requiring liver transplantation as a last resort for cure. The outcome of liver transplantation is excellent with 5- and 10-year survival rates around 80% and 70%, respectively, while along with long survival, the recurrence of the disease has become an important outcome after liver transplantation. Prevalence rates of recurrent PBC rage widely between 1% and 35%, and seem to increase with longer follow-up. Center-specific issues, especially the use of protocol biopsy, affect the variety of incidence, yet, recurrence itself does not affect patient and graft survival at present, and retransplantation due to recurrent disease is extremely rare. With a longer follow-up, recurrent disease could have an impact on patient and graft survival.
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Original Article
  • Ziqiang Wang, Yanqin Lu, Xiumei Zhang, Xiuzhi Ren, Yanzhou Wang, Zhili ...
    Volume 1 (2012) Issue 2 Pages 81-85
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    The purpose of our study was to screen preliminary differential expression bone-related microRNAs (miRNAs) in serum of patients with osteogenesis imperfacta and to clarify whether serum microRNA is a promising biomarker for osteogenesis imperfecta. geNorm and several other programes were performed to select suitable reference genes for quantitative detection of serum miRNAs from 6 candidate control genes. With geometric averaging of selected reference genes as a normalization factor, fluorescence-based quantitative real-time reverse transcriptase-polymerase chain reaction (qRT-PCR) was used to detect expression levels of more than 100 bone-related miRNAs obtained by means of miRanda, Targetscan and Pictar software calculations and reading the literature. Through analysis of expression stability and pairwise variations, all 6 candidate reference genes had a stable expression level in serum of 8 healthy controls and 8 patients with different characrteristics, and the optimal number of reference genes for normalization was 4 (snRNAU6, miR-92a, miR-16, and Let7a). For further validation, the expression stability of 4 reference genes remained steady in serum of another 8 healthy controls and 16 patients with osteogenesis imperfecta (M < 1.5). When normalized using multiple control genes, 11 bone-related miRNAs showed differential expression in serum of 8 osteogenesis imperfecta patients compared with 8 healthy controls. In conclusion, we identified snRNAU6, miR-92a, miR-16, and Let-7a as an internal reference gene group for qRT-PCR normalization and screening results revealed that there existed many differential expression bone-related miRNAs in serum of patients with osteogenesis imperfecta compared with healthy controls, and that these miRNAs had potential to be biomarkers for serologic tests and diagnosis of osteogenesis imperfecta with analysis of bioinformation.
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Case Reports
  • Chenglin Wang, Lin Cheng, Ziqin Zhang, Tingting Xie, Heyu Ding, Qianhu ...
    Volume 1 (2012) Issue 2 Pages 86-91
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    This article is about 3 cases of accessory lobes of the liver. Case One involved a pedunculated accessory lobe of the liver (ALL), Case Two involved a true ectopic liver, and Case Three involved a sessile accessory lobe of the liver. All 3 cases were diagnosed by computed tomography (CT) or magnetic resonance imaging (MRI) and confirmed by surgical and histological examination. The pertinent literature on accessory lobes of the liver is also reviewed.
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  • Liqiong Liu, Van Vo, Marcus Ware, Zhenggang Xiong
    Volume 1 (2012) Issue 2 Pages 92-94
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    A case of Asperger's syndrome with unusual cerebral pathological changes is reported. A 22-year-old male had been having diagnostic Asperger's syndrome since the age of eight and had epilepsy during the past two years. Radiological studies revealed a focal intra-axial cortical and subcortical cerebral lesion with hyper-intensity and non-enhancing contrast in the left frontal lobe. Histological and immunohistochemical studies demonstrated that the lesion consisted of cortical laminar disorganization, neuronal dysmorphism and increased heterotopic neurons in sub-cortical white matter. To our knowledge, this is the first case of Asperger's syndrome with focal cerebral pathological abnormalities rather than mini-columnar changes and the gyrial malformation reported in the literature.
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Commentary
  • Peipei Song, Jianjun Gao, Norihiro Kokudo, Wei Tang
    Volume 1 (2012) Issue 2 Pages 95-97
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    In Japan, although orphan drug legislation has been established in 1993 to encourage drug research and development (R&D) for intractable and rare diseases, nearly half of the orphan drugs in the Japanese market originated from the European Union (EU) or the United States of America (USA). Availability of orphan drugs for intractable and rare diseases is compounded by the "drug lag" phenomenon, which is mainly caused by the imperfect clinical trial environment in Japan. In recent years, the Japanese government paid great attention to development of innovative drugs and medical devices which originated from Japan. With financial support and institutional guarantees from government, the project of "Early Exploratory Clinical Trial Bases for Specific Research Areas" was launched in 2011 and 5 institutions were selected as the national early exploratory clinical trial bases for specific research areas including cancer, cerebral and cardiovascular diseases, neuropsychiatric disorders, and immunological intractable diseases. The early exploratory clinical trial bases offer a new opportunity for drug development for immunological and neuropsychiatric intractable diseases, thereby promoting orphan drug translation from basic studies to clinical use.
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