Avalanche fatalities in Czech Republic: a 23-years retrospective study.

Avalanche fatalities are quite rare in the Czech Republic. Due to the presence of avalanche fields in the two Czech mountains, forensic pathologists at some forensic medicine departments may encounter this specific mechanism of accidental death. The authors summarize medicolegal aspects of deaths in avalanches in the territory of the Czech Republic for the twenty-three-year period between 1993-2015. Ten avalanche fatalities were recorded during study period. The studied group consisted of nine male and one female victims. The average age of the deceased was 27.9 years. Skiers or ski-alpinists died in the avalanche in five cases (50%), climbers in two cases (20%), snowboarders in one case (10%), cross-country skiers in one case (10%) and in one case it was a fatality of child playing on a snowy hill (10%). The cause of death was suffocation in four cases (40%), blunt trauma in four cases (40%), and in the remaining two cases it was the survival of trapped persons several hours after being rescued from the avalanche in the hospital; both victims subsequently died as a result of prolonged shock (20%) due to a combination of prolonged suffocation and hypothermia. The time interval from the fall of the avalanche to the rescue of the trapped person was in the range of minutes to 3 hours. The presence of alcohol or drugs was not detected in any studied case.

Identification of a four-gene methylation biomarker panel in high-grade serous ovarian carcinoma.

Background The lack of effective biomarkers for the screening and early detection of ovarian cancer (OC) is one of the most pressing problems in oncogynecology. Because epigenetic alterations occur early in the cancer development, they provide great potential to serve as such biomarkers. In our study, we investigated a potential of a four-gene methylation panel (including CDH13, HNF1B, PCDH17 and GATA4 genes) for the early detection of high-grade serous ovarian carcinoma (HGSOC). Methods For methylation detection we used methylation sensitive high-resolution melting analysis and real-time methylation specific analysis. We also investigated the relation between gene hypermethylation and gene relative expression using the 2-ΔΔCt method. Results The sensitivity of the examined panel reached 88.5%. We were able to detect methylation in 85.7% (12/14) of early stage tumors and in 89.4% (42/47) of late stage tumors. The total efficiency of the panel was 94.4% and negative predictive value reached 90.0%. The specificity and positive predictive value achieved 100% rates. Our results showed lower gene expression in the tumor samples in comparison to control samples. The more pronounced downregulation was measured in the group of samples with detected methylation. Conclusions In our study we designed the four-gene panel for HGSOC detection in ovarian tissue with 100% specificity and sensitivity of 88.5%. The next challenge is translation of the findings to the less invasive source for biomarker examination, such as plasma. Our results indicate that combination of examined genes deserve consideration for further testing in clinical molecular diagnosis of HGSOC.