Intractable & Rare Diseases Research
Search
OR
Browse
Search
Volume 1 , Issue 1
Showing 1-10 articles out of 10 articles from the selected issue
    • |<
    • <
    • 1
    • >
    • >|
Editorial
  • Wei Tang, Masatoshi Makuuchi
    Volume 1 (2012) Issue 1 Pages 1-2
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Intractable diseases, literally derived from the Japanese word 'nanbyo', mainly refer to rare diseases that have resulted mostly from unidentifiable causes and/or lack of clearly established or curable treatments. Currently, it is estimated that there are 5,000-7,000 distinct rare diseases worldwide, of which 80% have been identified as having genetic origins and 50% occuring in childhood and lasting for a lifetime (1,2). It is worth noting that most cancers including all cancers affecting children are within the scope of the concept of rare disease (2). Rare diseases bring patients substantial physical suffering and psychological despair due to the lack of therapeutic hope and the absence of practical support for everyday life. In addition, these kinds of diseases require a significant amount of labor for the patient's care, causing a heavy burden on other family members, both financially and mentally. Although each specific disease affects a limited number of patients because of its rarity, the total number of patients with rare diseases represents a striking proportion of the total population. For example, in the European Union (EU) countries approximately 30 million people, which accounts for 6-8% of the total EU population, have various rare diseases (2). In the United States (US), it is estimated that 10% of the people suffer from rare diseases (3). These facts indicate that the situation of preventing and controlling rare diseases is grim in the world. More....
    View full abstract
    Download PDF (230K)
Policy Forums
  • Peipei Song, Jianjun Gao, Yoshinori Inagaki, Norihiro Kokudo, Wei Tang
    Volume 1 (2012) Issue 1 Pages 3-9
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Rare diseases are an important public health issue and a challenge to medical care. Specific legislation to encourage research of rare diseases and development of orphan drugs has been adopted in the United States (US), the European Union (EU), and elsewhere. In recent years, much progress has been made in some parts of Asia, including Japan, South Korea, and Taiwan, with the enactment of legislation and accompanying regulation of rare diseases and orphan drugs. China is also actively promoting the regulation of rare diseases and orphan drugs. We describe the current status of the regulation of rare diseases and orphan drugs in Asia and we comparatively analyze the regulation of rare diseases and orphan drugs worldwide in order to examine the challenges to and future perspectives on promoting research on rare diseases and development of orphan drugs in China and other Asian countries.
    View full abstract
    Download PDF (383K)
  • Jinxiang Han, Yazhou Cui, Xiaoyan Zhou
    Volume 1 (2012) Issue 1 Pages 10-12
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Rare diseases research in China can be traced back to the 1980s. Currently, control of rare diseases has become a national concern. This paper describes developments concerning rare diseases in China with regard to epidemiology, case registration, basic research, establishment of medical networks, and orphan drugs. A national program for rare disease research is being implemented in China to promote international cooperation in the future.
    View full abstract
    Download PDF (255K)
Reviews
  • Sumihito Tamura, Yasuhiko Sugawara, Norihiro Kokudo
    Volume 1 (2012) Issue 1 Pages 13-17
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Primary sclerosing cholangitis (PSC) is a chronic cholestatic liver disease of unknown origin which eventually results in liver cirrhosis. The disease is reported to be more common among the Western population than in the Asian population. Asian experience remains limited. Diagnosis and treatment standards in the Far East have largely followed those in the West, including liver transplantation. Unlike in the West, however, recent reports from Japan have presented with a higher recurrence rate of PSC after liver transplantation, suggesting the intractable nature of the disease even after the replacement of the entire affected organ.
    View full abstract
    Download PDF (610K)
  • Wei Zhang, Eliakim Manda, Ming Qiu
    Volume 1 (2012) Issue 1 Pages 18-22
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Upper gastrointestinal bleeding (UGB) is a life-threatening complication of gastrointestinal diseases. There is a large variety of uncommon reasons which contribute to UGB and might become reasons for misdiagnosis and sometimes lead to fatal consequences. In this review, clinical characteristics of uncommon causes of UGB reported in the Chinese literature are summarized.
    View full abstract
    Download PDF (354K)
  • Ran Meng, Xunming Ji, Xiaoying Wang, Yuchuan Ding
    Volume 1 (2012) Issue 1 Pages 23-26
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Cerebral venous sinus thrombosis (CVST) is an uncommon but life-threatening stroke subtype with extremely diverse clinical features, predisposing factors, brain imaging findings, and outcomes. Its predominant etiologies were known to be otomastoid, orbit, and central face cutaneous infections, pregnancy and complications associated with the postpartum period, and oral contraceptives. In recent years, however, infections have accounted for fewer cases while oral contraceptives, pregnancy and complications associated with the postpartum period, tumors, and coagulopathies have accounted for more cases of CVST. These conditions have become the predominant risk factors for CVST, but uncommon etiologies have also emerged. This review focuses on the new etiologies of CVST cases reported this year to broaden perspectives on the etiologies of CVST.
    View full abstract
    Download PDF (418K)
Brief Report
  • Mei Zhang, Qin Li, Lili Zhang, Rongzhan Fu, Yulong Wang, Shouhua Chen, ...
    Volume 1 (2012) Issue 1 Pages 27-29
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    This study reported a family with primary hyperparathyroidism due to parathyroid carcinoma and investigated the pathological and genetic features of family members. Three members of the family had clinical manifestation of primary hyperparathyroidism and tumors in the neck. All three patients underwent parathyroidectomy, thyroidectomy and level-VI neck dissection and were definitively diagnosed based on pathology. The index case was a patient that was found to have parathyroid carcinoma on the right side and parathyroid adenoma on the left side. The other two patients had local tumor recurrence and metastasis to distant organs. A germline mutation in the HRPT2 gene (Arg91Pro) was identified in all of the patients in this family. Study of the literature indicated that this is the first report of familial parathyroid carcinomas with an HRPT2 gene missense mutation. Results also indicated that HRPT2 may play an important role in
    View full abstract
    Download PDF (941K)
Original Article
  • Qiaofang Hou, Yan Chu, Qiannan Guo, Dong Wu, Shixiu Liao
    Volume 1 (2012) Issue 1 Pages 30-34
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    The purpose of our study was to identify the mutations in the retinoschisis 1 (RS1) gene, which was associated with X-linked retinoschisis (XLRS) in a four-generation Chinese family, and to provide the theoretical basis for gene diagnosis and gene therapy. Genomic DNA was extracted from peripheral leukocytes. All six exons and flanking intronic regions were amplified by polymerase chain reaction (PCR), followed by direct sequencing. Through our genetic analysis, one frameshift 573delG mutation was identified in the patients of this four-generation pedigree; however, this mutation was absent in normal or non-carrier subjects. In conclusion, this 573delG mutation is reported in the Chinese population for the first time. This mutation widens the mutational spectrum of RS1 in Asians. Identification of mutations in the RS1 gene and expanded information on clinical manifestations will facilitate early diagnosis, appropriate early therapy, and genetic counseling regarding the prognosis of XLRS.
    View full abstract
    Download PDF (1193K)
Case Reports
  • Keiichi Uchida, Kohei Otake, Mikihiro Inoue, Yuhki Koike, Kohei Matsus ...
    Volume 1 (2012) Issue 1 Pages 35-39
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    Lymphocytic intestinal leiomyositis is a rare entity, which causes chronic intestinal pseudo-obstruction (CIPO) in children. We present the first case of a boy who had pure red cell anemia 1 year before onset. Prolonged ileus developed after gastroenteritis and the patient was diagnosed using a biopsy of the intestinal wall. Findings from the present case indicate that there are three important factors for accurate diagnosis: history of enteritis, positive serum smooth muscle antibody, and lymphocyte infiltration with muscle destruction in the muscularis propria in the intestinal wall. Earlier diagnosis and induction of immunosuppressive therapy may be essential for a better outcome.
    View full abstract
    Download PDF (882K)
  • Chenglin Wang, Lin Cheng, Ziqin Zhang, Zhidong Yuan
    Volume 1 (2012) Issue 1 Pages 40-44
    Released: April 16, 2014
    JOURNALS FREE ACCESS
    This article is about a case of hepatic ectopic pregnancy. A patient suffered from an acute abdomen with 14-day vaginal bleeding. A serum, human chorionic gonadotrophin (HCG) of 8,988 mIU/mL revealed a bit of pelvic effusion. A computed tomography (CT) plain scan displayed a polygonal, moderate density shadow of the left liver lobe. An enhanced CT had no sign of intensification. A magnetic resonance imaging (MRI) plain scan was undertaken. On a T1-weighted imaging (T1WI), the lesion appeared to be a low signal; on a T2-weighted imaging (T2WI), the lesion appeared to be a high signal. With enhanced MRI, the lesion showed an irregular mild plague-like intensification during the venous phase. It was excised by an operation and chorionic tissue was seen under a microscope. The result of pathological diagnosis was hepatic ectopic pregnancy.
    View full abstract
    Download PDF (1231K)
    • |<
    • <
    • 1
    • >
    • >|
feedback
Top