Intractable & Rare Diseases Research
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Volume 1 , Issue 4
Showing 1-6 articles out of 6 articles from the selected issue
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Policy Forum
  • Ziyad S. Almalki, Abdullah K. Alahmari, Jeff J. Guo, Christina M.L. Ke ...
    Volume 1 (2012) Issue 4 Pages 139-143
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    An orphan drug is a drug developed specifically to treat a rare medical condition. With a combined population of less than 400 million, about 2.8 million patients are estimated to be suffering from a rare disease in the Middle East. Some disorders such as hemoglobinopathy, glucose-6-phosphate dehydrogenase deficiency, autosomal recessive syndromes, and several metabolic disorders have a presence throughout the Middle East. In order to promote the treatment of these diseases, Middle Eastern governments need to facilitate education and training of healthcare personnel; develop and execute a method for obtaining and paying for orphan drugs; and, finally, provide tax, marketing, and other incentives to domestic and international firms to develop drugs specifically for the diseases
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Reviews
  • Tetsuya Asakawa, Huan Fang, Zhen Hong, Kenji Sugiyama, Takao Nozaki, H ...
    Volume 1 (2012) Issue 4 Pages 144-150
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Parkinson's disease (PD) is a common, however, intractable neurodegenerative disorder in the aging population. Levodopa (L-dopa) administration is regarded as the most effective strategy in treating PD with prominent motor side-effects after undergoing long-term treatment. Surgical therapies such as deep brain stimulation (DBS) show certain efficacy, yet there are several limitations in adopting such surgical procedures. Therefore, performing electrical stimulation out of the brain, namely peripheral stimulation for PD has been a dream of many clinicians. Recently, the efficacy of dorsal column stimulation was verified in animal PD models; on the other hand, tons of acupunctural studies from East Asia claim good efficacy in treating PD both in bench and clinical studies. This review will introduce the progress of peripheral stimulation for PD, and will discuss the potential mechanisms involved in these strategies.
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  • Xiaobin Feng, Shuguo Zheng, Feng Xia, Kuansheng Ma, Shuguang Wang, Pin ...
    Volume 1 (2012) Issue 4 Pages 151-156
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Hepatolithiasis is endemic to East Asia, but immigration from the region means that this rare but emerging disease will pose a therapeutic challenge to doctors in the West as well. Curative management of hepatolithiasis is difficult since its etiology has not been fully elucidated. Hepatectomy is the best approach to treating hepatolithiasis. Here, we propose a novel classification of hepatolithiasis and describe features of each type. We then relate our experience with various forms of hepatectomy to treat different types of hepatolithiasis. Surgery should be indicated for all cases of hepatolithiasis. The proposed classification will help to determine surgical strategies. Better selection of which patients should undergo a hepatectomy will lead to better outcomes.
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Brief Report
  • Dong Wu, Qiaofang Hou, Tao Li, Yan Chu, Qiannan Guo, Bing Kang, Shixiu ...
    Volume 1 (2012) Issue 4 Pages 157-160
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Chorionic villus sampling (CVS) or amniocentesis for fetal sex determination is generally the first step in the prenatal diagnosis of X-linked genetic disorders such as Duchenne muscular dystrophy (DMD). However, non-invasive prenatal diagnostic (NIPD) techniques such as measurement of cell-free fetal DNA (cffDNA) in maternal plasma are preferable given the procedure-related miscarriage rate of CVS. We determined fetal sex during the first trimester using a quantitative real-time polymerase chain reaction (PCR) assay of cffDNA in pregnant carriers of DMD. The fetal sex was confirmed by amniocentesis karyotype analysis and multiplex ligation-dependent probe amplification (MLPA) at 16 weeks. This procedure may avoid unnecessary CVS or amniocentesis of female fetuses.
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Original Article
  • Heng Zhao, Yazhou Cui, Xiaoyan Zhou, Jingxiang Pang, Xiumei Zhang, Shu ...
    Volume 1 (2012) Issue 4 Pages 161-166
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    As the world's most populous country, China has the world's largest number of rare disease groups in terms of prevalence. However, the country has no system of registering cases of most rare diseases, so there is very little documented information on the epidemiology of those diseases. The purpose of this study was to study the state of rare disease research and survey doctors in Shandong Province regarding their level of awareness of rare diseases. Types of rare diseases and numbers of cases were tallied and their geographical distribution over the decades was analyzed. Eight hundred and twenty-four doctors in tertiary hospitals and maternity and child care hospitals were surveyed by questionnaire. Data were descriptively analyzed and a map of disease distribution was created. Articles about rare diseases were retrieved from the Chinese Biomedical Literature Database to provide pertinent data. This study yielded 5,749 cases of 323 different types of rare diseases. The survey found that doctors lack awareness of research on rare diseases. An authoritative and information-rich platform for rare disease research is urgently needed. Key steps are to study epidemiological and statistical techniques and then obtain available data to provide a basis for the definition and regulation of rare diseases in China.
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Case Report
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