Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

BACKGROUND: There has been a campaign by the National Education on Sleeping Habits and Living Environment, to reduce the incidence of sudden infant death syndrome (SIDS). However, more than 100 infants die suddenly and unexplainably before the age of 1 year in Korea. Long QT syndrome (LQTS), an inheritable cardiac disease, has been reported to likely be associated with up to 14% of SIDS cases. However, genetic studies of the association between SIDS and LQTS have not yet been conducted in Korea. METHODS: We conducted genetic analysis using genomic DNA extracted from paraffin-embedded tissue blocks from 200 SIDS cases autopsied between 2005 and 2013. We analyzed the following genetic mutations associated with LQTS, KCNQ1, SCN5A, KCNE1, KCNE2, KCNJ2, and CAV3. RESULTS: Of the 200 SIDS cases, 58% involved male infants (116 male and 84 female infants, respectively), the mean age was 140 days (median, 107 days; range, 24-270 days), and they were all of Asian-Korean ethnicity. SIDS IA category criteria comprised 45 cases (22.5%) while the rest were SIDS IB. Fifteen infants (7.5%) had R1193Q in SCN5A, of doubtful pathogenicity, and no pathogenic LQTS variants were observed. CONCLUSION: This genetic investigation of LQTS in SIDS showed a low diagnostic yield. These findings suggest that LQTS molecular autopsy could be cautiously conducted in selected cases with family involvement to improve the available genetic counseling information. Meanwhile, a national SIDS registry should be established to document and evaluate the genetic risk of SIDS in Korea.

Bath-related Deaths in Korea between 2008-2015.

BACKGROUND: The diagnostic criteria for bathtub drownings are not standardized, and the risk factors associated with bath-related deaths are unclear. METHODS: We analyzed a Korean nationwide database of bath-related deaths that occurred between January 2008 and December 2015. Eighty-four cases were enrolled after reviewing 31,123 autopsy records. RESULTS: The subjects' ages ranged from 18 to 91 years, with a mean age ± standard deviation of 61.3 ± 16.0 years. Bath-related deaths in the winter were approximately 4.6-fold greater than those in the summer. Of the 84 subjects, the primary cause of death in 57 (67.9%) was drowning in the bath; 24 (28.6%) drowned of other causes such as natural diseases, and 3 (3.6%) died of acute alcohol intoxication. We analyzed water-inhalation signs to establish criteria for bathtub drowning diagnosis. There were significantly higher incidences of hyperinflated lungs, water in the sphenoid sinus and stomach/duodenal contents, and Paltauf's spots (subpleural hemorrhage) in bathtub-drowned subjects compared to non-drowned individuals (P < 0.01). Multiple signs of water inhalation were significantly associated with bathtub drowning (P < 0.01). The two leading contributory causes of bath-related death were cardiovascular diseases and alcohol intoxication (binge drinking before bathing). CONCLUSION: The diagnosis of bath-related deaths could present considerable medico-legal problems; therefore, a comprehensive autopsy with a thorough scene investigation can clarify the cause of death in these situations. Preventive strategies for reducing such deaths should target alcohol drinking before bathing and long soaking times in bathtubs, especially among elderly individuals with preexisting cardiovascular diseases.

Point-of-care hemoglobin testing for postmortem diagnosis of anemia.

An autopsy involves examination of a body using invasive methods such as dissection, and includes various tests using samples procured during dissection. During medicolegal autopsies, the blood carboxyhemoglobin concentration is commonly measured using the AVOXimeter® 4000 as a point-of-care test. When evaluating the body following hypovolemic shock, characteristics such as reduced livor mortis or an anemic appearance of the viscera can be identified, but these observations arequite subjective. Thus, a more objective test is required for the postmortem diagnosis of anemia. In the present study, the AVOXimeter® 4000 was used to investigate the utility of point-of-care hemoglobin testing. Hemoglobin tests were performed in 93 autopsy cases. The AVOXimeter® 4000 and the BC-2800 Auto Hematology Analyzer were used to test identical samples in 29 of these cases. The results of hemoglobin tests performed with these two devices were statistically similar (r = 0.969). The results of hemoglobin tests using postmortem blood were compared with antemortem test results from medical records from 31 cases, and these results were similar. In 13 of 17 cases of death from internal hemorrhage, hemoglobin levels were lower in the cardiac blood than in blood from the affected body cavity, likely due to compensatory changes induced by antemortem hemorrhage. It is concluded that blood hemoglobin testing may be useful as a point-of-care test for diagnosing postmortem anemia.

Estimation of stature from femur length measured using computed tomography after the analysis of three-dimensional characteristics of femur bone in Korean cadavers.

Estimation of stature is a basic and important forensic procedure in identifying decomposed or skeletonized bodies. Due to advances in radiologic equipment, forensic science frequently uses computed tomography (CT) and software to apply these findings to investigations. Technical developments have increased the accuracy of the measurement of various bones. However, there are still some inaccuracies, such as defining correct landmarks in three-dimensional (3D) images. Femur length is frequently used for calculation of stature, but because it is a 3D structure, the digital image may not always correlate with the femur length measured with an osteometric board. However, more studies are now showing that the maximum femur length calculated in 3D imagery is comparable to the maximum femur length calculated using an osteometric board. This study used digitalized data of the femur obtained from the CT image through the specialized software. The digitalized femur images were put on the virtual osteometric board, which helped us to understand the anatomic characteristics of the femur and to confirm that the maximum femur lengths calculated in 3D images are similar to the results obtained using an osteometric board. These data were used to obtain a stature estimation formula for the Korean population.