- 著者
- Rieko Kanehara Atsushi Goto Maki Goto Toshiaki Takahashi Motoki Iwasaki Mitsuhiko Noda Hikaru Ihira Shoichiro Tsugane Norie Sawada
- 出版者
- Japan Epidemiological Association
- 雑誌
- Journal of Epidemiology (ISSN:09175040)
- 巻号頁・発行日
- vol.33, no.4, pp.165-169, 2023-04-05 (Released:2023-04-05)
- 参考文献数
- 14
- 被引用文献数
- 3
Background: Validation studies of diabetes definitions using nationwide healthcare databases are scarce. We evaluated the validity of diabetes definitions using disease codes and antidiabetic drug prescriptions in the Japanese Diagnosis Procedure Combination (DPC) data via medical chart review.Methods: We randomly selected 500 records among 15,334 patients who participated in the Japan Public Health Center-Based Prospective Study for the Next Generation in Yokote City and who had visited a general hospital in Akita between October 2011 and August 2018. Of the 500 patients, 98 were linked to DPC data; however, only 72 had sufficient information in the medical chart. Gold standard confirmation was performed by board-certified diabetologists. DPC-based diabetes definitions were based on the International Classification of Diseases, 10th Revision codes and antidiabetic prescriptions. Sensitivity, specificity, and the positive and negative predictive values (PPV and NPV, respectively) of DPC-based diabetes definitions were evaluated.Results: Of 72 patients, 23 were diagnosed with diabetes using chart review; 19 had a diabetes code, and 13 had both a diabetes code and antidiabetic prescriptions. The sensitivity, specificity, PPV, and NPV were 89.5% (95% confidence interval [CI], 66.9–98.7%), 96.2% (95% CI, 87.0–99.5%), 89.5% (95% CI, 66.9–98.7%), and 96.2% (95% CI, 87.0–99.5%), respectively, for (i) diabetes codes alone; 89.5% (95% CI, 66.9–98.7%), 94.3% (95% CI, 84.3–98.8%), 85.0% (95% CI, 62.1–96.8%), and 96.2% (95% CI, 86.8–99.5%) for (ii) diabetes codes and/or prescriptions; 68.4% (95% CI, 43.4–87.4%), 100% (95% CI, 93.3–100%), 100% (95% CI, 75.3–100%), and 89.8% (95% CI, 79.2–96.2%) for (iii) both diabetes codes and prescriptions.Conclusion: Our results suggest that DPC data can accurately identify diabetes among inpatients using (i) diabetes codes alone or (ii) diabetes codes and/or prescriptions.
- 著者
- Saori Hayashi Yutaka Ohsawa Toshiaki Takahashi Naoki Suzuki Tadashi Okada Mitsue Rikimaru Tatsufumi Murakami Masashi Aoki Yoshihide Sunada
- 出版者
- The Japanese Society of Internal Medicine
- 雑誌
- Internal Medicine (ISSN:09182918)
- 巻号頁・発行日
- vol.49, no.24, pp.2693-2696, 2010 (Released:2010-12-15)
- 参考文献数
- 5
- 被引用文献数
- 6 7
Objective Mutations in the dysferlin gene cause limb-girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy (MM), which are collectively named dysferlinopathy. Dysferlinopathy is the most frequent type of LGMD in the Japanese population. Molecular genetic analysis is essential for the diagnosis of dysferlinopathy because of its variable immunohistochemical patterns of biopsied muscles, including patterns similar to normal controls. The analysis of the entire dysferlin gene however, is time-consuming and laborious; therefore a simple and rapid screening method to detect hot spot mutations in the dysferlin gene is essential for the diagnosis of dysferlinopathy. Methods We previously showed that 4 mutations, c.937+1G>A, c.1566C>G, c.2997G>T and c.3373delG account for 50% of all the mutations identified in Japanese dysferlinopathy patients. We performed a one-tube multiplex PCR, followed by extension of primers for each mutation with a fluorescence-labeled dideoxynucleotide to screen the 4 hot spot mutations. Results The multiplex primer-extension reaction was developed on samples of known mutations. The extension products were represented as 4 different peaks that corresponded to a mutated nucleotide on electropherogram. Using the developed screening method, we were able to detect mutations in these hot spots in 3 samples out of 8 clinically suspected LGMD2B/MM patients in only approximately 8 hours. These 3 cases were definitely diagnosed as LGMD2B/MM by exonic sequencing. Conclusion We have developed a simple and rapid screening method which could facilitate the definitive diagnosis of dysferlinopathy, contributing to an understanding of the genotype-phenotype correlations for dysferlinopathy.