• Journal of mucopolysaccharidosis and rare diseases
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• v.1 no.1
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• pp.1-1
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• 2015

• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.1
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• pp.7-10
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• 2018

Rare diseases are life threatening or chronically debilitating diseases with a low prevalence (less than 2,000 people in a population), which includes lysosomal storage diseases. These diseases are often seen as unimportant especially in developing countries, such as Indonesia, due to small number of patients. National Rare Disease Center in Indonesia was pioneered almost 20 years ago and officially established in 2017 by the Indonesian Minister of Health. Lysosomal storage disease become the most commonly found inborn errors of metabolism (IEM) in Indonesia due to easily accessible diagnostic facilities. Currently there are 7 patients receiving ERT in this mixed-donation scheme, one patient with Gaucher disease and 6 patients with MPS type II. Few challenges for ERT in Indonesia include importation through special access scheme, preparation of ERT infusion in intensive care settting, and cost of treatment. Even with limited resources, healthcare professionals in Indonesia have been giving the best care possible for rare disease patients, especially to provide diagnostic facilities through collaboration and treatment options for treatable rare diseases. Improvements in care for rare disease patients are still needed.

• Journal of mucopolysaccharidosis and rare diseases
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• v.1 no.1
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• pp.2-4
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• 2015

Though the rate of incidence of each rare disease, including mucopolysaccharidosis (MPS), is low, this is not the case if they are taken as a whole. Rare diseases often have genetic causes and vary in type. However, the signs and symptoms vary greatly by disease, making it difficult to make accurate diagnoses and conduct necessary research, which is why we believe it is a field that deserves more attention and research. It is important to establish an infrastructure of experts in each country and promote cooperation within the Asia-Pacific region in order to improve specialist training and communication. Given the need for a system of cooperation, the Asia Pacific MPS Network (APMN) was established by several MPS experts in South Korea, Japan, and Taiwan in January 2013. Thereafter, the Asia Pacific MPS Registry (APMR), an electronic remote data system, was established by the APMN. Then, the Association for Research of MPS & Rare Diseases (ARMRD), an academic society that supports research on MPS and other rare diseases, was established by President Dong-Kyu Jin in April in 2015. The main task of the ARMRD is to support APMN-related work. The ARMRD published a uniform guideline that reflects the characteristics and circumstances of local patients through the Korean MPS Expert Council. Now, the APMN, APMR, and the annual Korean MPS Symposium are supported by ARMRD. Organizations like the APMN and APMR are necessary because international cooperation and collaboration are needed to conduct clinical trials on those diseases. ARMRD members hope to encourage the interest of experts and researchers of MPS & rare diseases as well as active participation in the research and treatment of patients suffering from rare diseases, including MPS, to ultimately improve the quality of life of the patients as well as their families.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.34-34
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• 2017

• Childhood Kidney Diseases
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• v.19 no.2
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• pp.176-179
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• 2015

Rituximab (RTX), a monoclonal antibody against the B-cell marker CD20, is commonly used as a treatment for antibody-mediated diseases or B-lymphocyte-mediated diseases. Destruction of B cells may reverse the disease course in many conditions; however, patients who are treated with RTX cannot respond appropriately to de novo infection due to lack of B lymphocytes. Here, we report one such case. A 7-year-old renal allograft recipient presented with severe anemia due to parvovirus infection after RTX treatment. The patient had focal segmental glomerulosclerosis and had received cadaveric kidney transplantation 6 months previously. She was treated with high-dose steroid for acute rejection and RTX for Epstein Barr Virus infection 3 months previously. At presentation, her hemoglobin level was 5.4 g/dL and leukocyte and platelet counts were normal. She had microcytic normochromic anemia and high viral load of parvovirus B19(70,578 copies/mL). Intravenous immunoglobulin ($200mg/kg{\cdot}d$) treatment controlled the progression of anemia and parvovirus infection. De novo parvovirus infection during the B lymphocyte-depletion period may have precipitated the severe anemia in this case. Close monitoring of infection is required after RTX therapy.

• The Journal of the Korea institute of electronic communication sciences
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• v.18 no.2
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• pp.373-378
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• 2023

Untypical symptoms and lack of diagnostic records make it difficult for even medical specialists to detect rare diseases. Thus, it takes a lot of time and money from the onset of symptoms to an accurate diagnosis, which seriously results in physical, mental, and economic pressure on patients. In this paper, we propose and implement an early detection assistance system for rare diseases using web crawling and text mining, which can suggest the names of suspected rare diseases so that medical staffs can easily recall the disease names and make a final diagnosis of the rare diseases.

• Genomics & Informatics
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• v.18 no.2
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• pp.17.1-17.4
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• 2020

The amount of content on social media platforms such as Twitter is expanding rapidly. Simultaneously, the lack of patient information seriously hinders the diagnosis and treatment of rare/intractable diseases. However, these patient communities are especially active on social media. Data from social media could serve as a source of patient-centric knowledge for these diseases complementary to the information collected in clinical settings and patient registries, and may also have potential for research use. To explore this question, we attempted to extract patient-centric knowledge from social media as a task for the 3-day Biomedical Linked Annotation Hackathon 6 (BLAH6). We selected amyotrophic lateral sclerosis and multiple sclerosis as use cases of rare and intractable diseases, respectively, and we extracted patient histories related to these health conditions from Twitter. Four diagnosed patients for each disease were selected. From the user timelines of these eight patients, we extracted tweets that might be related to health conditions. Based on our experiment, we show that our approach has considerable potential, although we identified problems that should be addressed in future attempts to mine information about rare/intractable diseases from Twitter.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.35-35
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• 2017

• Journal of mucopolysaccharidosis and rare diseases
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• v.1 no.1
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• pp.31-33
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• 2015

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.28-28
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• 2016