February 28, 2013 marks the sixth international "Rare Disease Day". On and around this day, hundreds of patient organizations from more than 60 countries and regions worldwide plan to host awareness campaigns in line with this year's theme, "Rare Disorders without Borders". Public awareness of intractable and rare diseases has heightened in recent decades. Much progress has also been made worldwide, such as specific legislation to encourage discovery and development of orphan drugs in the United States (US), the European Union (EU), and some parts of Asia. However, there are still many gaps in knowledge with regard to therapeutic tools and strategies. Intractable and rare diseases cause patients substantial physical suffering, psychological despair, and economic hardships due to bleak therapeutic outcomes and the lack of practical support in everyday life. The features of intractable and rare diseases and the increasing number of types of identified diseases make these diseases an important public health issue and a challenge to medical care worldwide. The following are specific aspects of research on intractable and rare diseases that need to be promptly promoted. ...
Alzheimer's disease (AD) is a severe condition in aging countries. The currently used drugs including donepezil, rivastigmine, galantamine, and memantine are effective in managing the symptoms. However, they are hardly capable of preventing, halting, or reversing the disease. In the long history of development of traditional Chinese medicine, much experience has accumulated and is summarized in treatment of diseases that correspond to the concept of AD. In recent years, exploration of natural active ingredients from medicinal herbs for treatment of AD has attracted substantial attention. Some flavonoids have been revealed to have a variety of biological actions such as scavenging free radicals, inhibiting neuron apoptosis, and nurturing neuronal cells that constitute the basis for treatment of AD. In this article, we review recent research progress on flavonoids isolated from traditional Chinese medicine against AD and their underlying mechanisms.
Gastrointestinal stromal tumors (GIST) constitute 1-3% of all gastrointestinal malignancies and is the most common mesenchymal tumor of the gastrointestinal tract. Although GIST were first described in the literature in the year 1941, important advances of kit mutation and tyrosine kinase inhibitors were not made to understand and manage GIST until the last decade. Here current advances in research of possible cellular origin, diagnostic biomarkers and prognostic factors of primary GIST are reviewed, and the management of primary duodenal GIST is focused on due to its specific location. It is possible that personalized assessment and therapy will turn out to be another milestone for primary GIST.
The purpose of this study was to investigate optimal concentrations of zoledronic acid (ZA) in terms of their effect on the proliferation, differentiation, and mineralization of primary osteoblasts (OBs) and fibroblasts (FBs). Primary OBs and FBs isolated from patients with clinical osteogenesis imperfecta (OI) and developmental dysplasia of the hip (DDH) were ( (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide)) colorimetric assay, flow cytometry, alkaline phosphatase (ALP) determination activity, and alizarin red staining were used to measure the proliferation, differentiation, and mineralization of cells. The MTT assay indicated that high concentrations of ZA may be toxic to cultured cells. No obvious These findings suggest low concentrations of ZA have more of an effect on cell differentiation and mineralization, so low concentrations are better at regulating bone formation and repair.
A 41-year-old female visited Ruijin Hospital because her face was swollen for more than 2 months. The patient was initially diagnosed with Cushing's disease (CD). Several examinations, including a dexamethasone suppression test (DST) at 2 mg and 8 mg, pituitary MRI, abdominal CT, punch biopsy of adrenal masses, and bilateral inferior petrosal sinus sampling (BIPSS), were performed, but the findings were not consistent with the clinical presentation. Ultimately, the patient underwent surgery and recovered. In this case, BIPSS was a useful way to diagnosis CD and suggested the exact location of a pituitary adenoma to Neurosurgery. BIPSS should be a required test for cases of CD that cannot be definitively diagnosed with just an MRI and 8 mg DST before surgery.
The second workshop on "Research on Economy And Social Exclusion (REASE)" was held in the University of Tokyo on January 26, 2013. Focusing on rare diseases and disorders in China, three speakers from China introduced the current status of rare diseases and the challenge of support organizations for patients with rare disease and disorders in China, and especially pointed out some important issues associated with rare diseases and disorders in China. From the viewpoint of economics, this paper discusses some of the important issues of rare diseases and disorders in China raised in this workshop, especially from the aspects of economy of scale and orphan drugs, and the emergence of stigma from discrimination. It was shown that international coordination and cooperation are called for in order to give a proper incentive to the drug industries to create new drugs for rare diseases, and suggested that an important step toward inclusion is to reduce stigma by making rare diseases visible as much as possible.
Over the past 40 years, measures to combat intractable diseases in Japan have progressed substantially since the implementation of the "Outline of Measures to Combat Intractable Diseases" in 1972. However, many challenges remain. In order to further promote measures to combat intractable diseases, a "Revision of Measures to Combat Intractable Diseases" was approved by the Japanese Ministry of Health, Labor, and Welfare (MHLW) on January 25, 2013. The revision rests on the three pillars of development of effective strategies to treat intractable diseases and improved care for those affected, creation of fair and consistent mechanisms to reimburse medical expenses, and implementing measures to enhance public understanding and encourage the social participation of those affected. These pillars will play an even greater role in future measures to combat intractable diseases.
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