Development of Korean Rare Disease Knowledge Base.
Development of korean rare disease knowledge base.
Filed under: Drug and Alcohol Rehabilitation
Healthc Inform Res. 2012 Dec; 18(4): 272-8
Seo H, Kim D, Chae JH, Kang HG, Lim BC, Cheong HI, Kim JH
Rare disease research requires a broad range of disease-related information for the discovery of causes of genetic disorders that are maladies caused by abnormalities in genes or chromosomes. A rarity in cases makes it difficult for researchers to elucidate definite inception. This knowledge base will be a major resource not only for clinicians, but also for the general public, who are unable to find consistent information on rare diseases in a single location.We design a compact database schema for faster querying; its structure is optimized to store heterogeneous data sources. Then, clinicians at Seoul National University Hospital (SNUH) review and revise those resources. Additionally, we integrated other sources to capture genomic resources and clinical trials in detail on the Korean Rare Disease Knowledge base (KRDK).As a result, we have developed a Web-based knowledge base, KRDK, suitable for study of Mendelian diseases that commonly occur among Koreans. This knowledge base is comprised of disease summary and review, causal gene list, laboratory and clinic directory, patient registry, and so on. Furthermore, database for analyzing and giving access to human biological information and the clinical trial management system are integrated on KRDK.We expect that KRDK, the first rare disease knowledge base in Korea, may contribute to collaborative research and be a reliable reference for application to clinical trials. Additionally, this knowledge base is ready for querying of drug information so that visitors can search a list of rare diseases that is relative to specific drugs. Visitors can have access to KRDK via http://www.snubi.org/software/raredisease/.
HubMed – drug
Cocaine induced vasculitis: have we found a culprit?
Filed under: Drug and Alcohol Rehabilitation
Case Report Rheumatol. 2012; 2012: 982361
Sánchez-Cruz A, Marrero S, Betancourt J, Andino M, Lopez A, Gutierrez-Nuñez J
Cocaine abuse is relatively common in our society. To enhance profitability and acceptability of the product, it is not uncommon for illicit drugs to undergo several processes. The Drug Enforcement Agency (DEA) has reported that seventy percent (70%) of cocaine seized at USA borders has been adulterated with levamisole, previously used as chemotherapeutic and immunomodulator for several conditions. Among the side effects of levamisole-adulterated cocaine, necrotizing vasculitis is the more dramatic. We report three cases of necrotizing vasculitis associated with antineutrophils cytoplasmic antibodies (ANCAs) positivity, linked to the use of cocaine. To our knowledge, these are the first cases of cocaine induced vasculitis reported in the Caribbean.
HubMed – drug
Pancolitis with ischemic injury as a complication of immunosuppressive treatment in a patient with autoimmune hepatitis: a case report.
Filed under: Drug and Alcohol Rehabilitation
Case Rep Gastrointest Med. 2012; 2012: 698404
Dalbeni A, Capoferro E, Bernardoni L, Capelli P, Caliò A, Gabbrielli A, Capra F
Ischemic colitis is a serious drug-induced adverse event. There are only few cases of immunosuppression-associated ischemic colitis described in the literature, but none with a pancolitis-like manifestation. We report the case of a 72-year-old female patient who developed a pancolitis with ischemic injury on immunosuppressive treatment with steroids and azathioprine for autoimmune hepatitis. The patient presented with massive rectal bleeding. Colonoscopy confirmed the diagnosis of pancolitis. The results of histological examination indicated drug-induced ischemic colitis involving the entire colon. This is the first case of ischemic pancolitis mimicking an inflammatory bowel disease (IBD) in a patient with immunosuppressive therapy.
HubMed – drug
A multisource approach to improving epidemiologic estimates: application to global B-cell malignancies.
Filed under: Drug and Alcohol Rehabilitation
ISRN Oncol. 2012; 2012: 129713
Mitchell ME, Lowe K, Fryzek J
The compilation of comprehensive, worldwide epidemiologic data can inform hypotheses on cancer etiology and guide future drug development. These statistics are reported by a multitude of sources using varying methods; thus, compiling a complete database of these statistics is a challenge. To this end, this paper examined the usefulness of a novel, multisource approach-extracting data from the peer-reviewed literature, online reports, and query systems from cancer registries and health agencies and directly contacting cancer registry personnel-for building a comprehensive, multinational epidemiologic cancer database. The major B-cell malignancies were chosen as the cancer subtype to test this approach largely because their epidemiology has not been well characterized in the peer-reviewed literature. We found that a multisource approach yields a more comprehensive epidemiologic database than what would have been possible with the use of literature searches alone. In addition, our paper revealed that cancer registries vary considerably in their methodology, comprehensiveness, and ability to gather information on specific B-cell malignancy subtypes. Collectively, this paper demonstrates the feasibility and value of a multisource approach to gathering epidemiologic data.
HubMed – drug
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