Suchergebnisse

BACKGROUND: Engaging in public health activities in the Democratic People's Republic of Korea (DPRK, also known as North Korea) offers a means to improve population health for its citizens and the wider region. Such an engagement requires an understanding of current and future needs. METHODS: We conducted a systematic search of five English and eight Korean language databases to identify available literature published between 1988 and 2017. A narrative review of evidence was conducted for five major categories (health systems, communicable diseases (CDs), non-communicable diseases (NCDs), injuries, and reproductive, maternal, newborn and child health (RMNCH) and nutrition). FINDINGS: We found 465 publications on the DPRK and public health. Of the 253 articles that addressed major disease categories, we found under-representation of publications relative to proportion of disease burden for the two most significant causes: NCDs (54.5% publications vs 72.6% disability adjusted life years (DALYs)) and injuries (0.4% publications vs 12.1% DALYs), in comparison to publications on the third and fourth largest disease burdens, RMNCH and nutrition (30.4% publications vs 8.6% DALYs) and CDs (14.6% publications vs 6.7% DALYs) which were over-represented. Although most disease category articles were on NCDs, the majority of NCD articles addressed mental health of refugees. Only 165 articles addressed populations within the DPRK and among these, we found publication gaps on social and environmental determinants of health, CDs, and NCDs. CONCLUSION: There are gaps in the public health literature on the DPRK. Future research should focus on under-studied, significant burdens of disease. Moreover, establishing more precise estimates of disease burden and their distribution, as well as analysis on health systems responses aimed at addressing them, can result in improvements in population health.

Background Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complicated and difficult to implement. In the present study, we investigated the patterns of genetic variation associated with HS among patients clinically diagnosed with HS. Methods Multi-gene targeted sequencing of 43 genes (17 RBC membrane protein-encoding genes, 20 RBC enzyme-encoding genes, and six additional genes for the differential diagnosis) was performed using the Illumina HiSeq platform. Results Among 59 patients with HS, 50 (84.7%) had one or more significant variants in a RBC membrane protein-encoding genes. A total of 54 significant variants including 46 novel mutations were detected in six RBC membrane protein-encoding genes, with the highest number of variants found in SPTB (n = 28), and followed by ANK1 (n = 19), SLC4A1 (n = 3), SPTA1 (n = 2), EPB41 (n = 1), and EPB42 (n = 1). Concurrent mutations of genes encoding RBC enzymes (ALDOB, GAPDH, and GSR) were detected in three patients. UGT1A1 mutations were present in 24 patients (40.7%). Positive rate of osmotic fragility test was 86.8% among patients harboring HS-related gene mutations. Conclusions This constitutes the first large-scaled genetic study of Korean patients with HS. We demonstrated that multi-gene target sequencing is sensitive and feasible that can be used as a powerful tool for diagnosing HS. Considering the discrepancies of clinical and molecular diagnoses of HS, our findings suggest that molecular genetic analysis is required for accurate diagnosis of HS. ; Support was provided by: the National Research Foundation of Korea (NRF) grant funded by the Korea government(MSIT) (NRF-2017R1A2A1A17069780) http://www.nrf.re.kr/.