Cytotoxicity of 4 Wild Mushrooms in a Case of Yunnan Sudden Unexplained Death / 法医学杂志

OBJECTIVES@#To explore the cytotoxicity of four wild mushrooms involved in a case of Yunnan sudden unexplained death (YNSUD), to provide the experimental basis for prevention and treatment of YNSUD.@*METHODS@#Four kinds of wild mushrooms that were eaten by family members in this YNSUD incident were collected and identified by expert identification and gene sequencing. Raw extracts from four wild mushrooms were extracted by ultrasonic extraction to intervene HEK293 cells, and the mushrooms with obvious cytotoxicity were screened by Cell Counting Kit-8 (CCK-8). The selected wild mushrooms were prepared into three kinds of extracts, which were raw, boiled, and boiled followed by enzymolysis. HEK293 cells were intervened with these three extracts at different concentrations. The cytotoxicity was detected by CCK-8 combined with lactate dehydrogenase (LDH) Assay Kit, and the morphological changes of HEK293 cells were observed under an inverted phase contrast microscope.@*RESULTS@#Species identification indicated that the four wild mushrooms were Butyriboletus roseoflavus, Boletus edulis, Russula virescens and Amanita manginiana. Cytotoxicity was found only in Amanita manginiana. The raw extracts showed cytotoxicity at the mass concentration of 0.1 mg/mL, while the boiled extracts and the boiled followed by enzymolysis extracts showed obvious cytotoxicity at the mass concentration of 0.4 mg/mL and 0.7 mg/mL, respectively. In addition to the obvious decrease in the number of HEK293 cells, the number of synapses increased and the refraction of HEK293 cells was poor after the intervention of Amanita manginiana extracts.@*CONCLUSIONS@#The extracts of Amanita manginiana involved in this YNSUD case has obvious cytotoxicity, and some of its toxicity can be reduced by boiled and enzymolysis, but cannot be completely detoxicated. Therefore, the consumption of Amanita manginiana is potentially dangerous, and it may be one of the causes of the YNSUD.

Cardiac Disease Associated Genetic Variants in Yi Nationality in Regions with High Incidence of Yunnan Sudden Unexplained Death / 法医学杂志

Objective To explore the association of cardiac disease associated genetic variants and the high incidence of Yunnan sudden unexplained death （YNSUD） in Yi nationality. Methods The genomic DNA was extracted from peripheral blood samples collected from 205 Yi villagers from YNSUD aggregative villages （inpatient group） and 197 healthy Yi villagers from neighboring villages （control group）. Fifty-two single nucleotide variants （SNVs） of 25 cardiac disease associated genes were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF-MS）. The SPSS 17.0 was used to analyze data. The pathogenicities of variants with differences between the two groups that have statistical significance were predicted by protein function prediction software PolyPhen-2 and SIFT. All villagers from inpatient group were given electrocardiogram （ECG） examination using a 12-lead electrocardiograph. Results The allele frequency and the genotype frequency of missense mutation DSG2 （rs2278792, c.2318G>A, p.R773K） of pathogenic genes of arrhythmogenic right ventricular cardiomyopathy （ARVC） in inpatient group was higher than that in control group （P<0.05）. Abnormal ECG changes were detected in 71 individuals （34.6%） in the inpatient group, among which 54 individuals carried R773K mutation, including clockwise （counterclockwise） rotation, left （right） axis deviation, ST segment and T wave alteration and heart-blocking. Conclusion Definite pathogenic mutations have not been found in the 52 cardiac disease genes associated SNVs detected in Yi nationality in regions with high incidence of YNSUD. The cause of high incidence of YNSUD in Yi nationality needs further study.

Forensic Pathology Analysis of 363 Sudden Death Cases in Yunnan Province / 法医学杂志

OBJECTIVES@#To study the epidemiological and pathological features of sudden death （SD） in Yunnan Province and to provide scientific evidence for prevention and forensic identification of sudden death.@*METHODS@#Totally 363 SD cases were collected from the autopsies between 2009 and 2017 in the Forensic Centre of Kunming Medical University. The related factors such as etiology, age, inducing factor, time interval between the onset of disease and death, morbidity season and pathological change were retrospectively analysed.@*RESULTS@#The incidence of SD in males was significantly higher than that of females. The peak age was ≥35-55 years. The mortality rate was relatively high within 6 h after the onset of disease. The season order with descending number of deaths was spring, summer, winter and autumn. The top ten causes of SD were coronary heart disease, sudden unexplained death （SUD）, cerebral hemorrhage, acute hemorrhagic necrotic pancreatitis, aortic dissection rupture, cardiomyopathy, pneumonia, pulmonary thromboembolism, amniotic fluid embolism and allergy. Exercise, infusion, surgery, medication and minor injury were the most common predisposing factors of sudden coronary death. Consciousness disorder or coma, chest pain or chest tightness, and abdominal pain were the most common premortem symptoms of sudden coronary death.@*CONCLUSIONS@#The SD is more common in middle-aged males, which is the key population for the prevention of SD. For the forensic identification and prevention of SD, the attention on SUD should be paid.

Post mortem troponin T analysis in sudden death: Is it useful?

@#Introduction: Cardiac-related diseases contributed approximately 50-60% of sudden natural death cases. This study aimed to describe the cardiac troponin T (cTnT) findings in post mortem subjects irrespective of the cause and manner of death, and the possible use of post mortem serum cTnT as a modality in investigating sudden natural death. Methods: The study samples comprised 140 subjects aged 18 to 50 years old, natural and unnatural causes of sudden death brought to the Department of Forensic Medicine, Hospital Sungai Buloh (HSgB) and Hospital Sultanah Aminah Johor Bahru (HSAJB) for a period of 12 months. The subjects were categorised into 5 groups: cardiovascular disease (CVD), sudden unexplained death (SUD), thoracic trauma (TT), non-thoracic trauma (NTT) and other diseases (OD). Results: Median troponin concentration in cases of CVD, SUD, TT, NTT, and OD were 0.51 µg/L, 0.17 µg/L, 0.62 µg/L, 0.90 µg/L and 0.51 µg/L respectively. We found no significant difference of troponin T level in different causes of death (p ≥ 0.05). NTT has the highest median troponin concentration with 0.90 µg/L, SUD possessed the lowest median concentration with 0.17 µg/L. Conclusion: Troponin T is neither specific nor useful as cardiac biomarker for post mortem sample. Therefore, it may not be a useful diagnostic tool at autopsy.

Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death / 法医学杂志

OBJECTIVES@#To explore the genetic variation sites of caveolin （CAV） and their correlation with sudden unexplained death （SUD）.@*METHODS@#The blood samples were collected from SUD group （71 cases）, coronary artery disease （CAD） group （62 cases） and control group （60 cases）, respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PCR. The type of heritable variation of CVA was confirmed and statistical analysis was performed.@*RESULTS@#A total of 4 variation sites that maybe significative were identified in SUD group, and two were newfound which were CAV1： c.45C>T （T15T） and CAV1：c.512G>A （R171H）, and two were SNP loci which were CAV1：c.246C>T （rs35242077） and CAV3：c.99C>T （rs1008642） and had significant difference （P<0.05） in allele and genotype frequencies between SUD and control groups. Forementioned variation sites were not found in CAD group.@*CONCLUSIONS@#The variants of CAV1 and CAV3 may be correlated with a part of SUD group.

Correlation between Genetic Variants and Polymorphism of Caveolin and Sudden Unexplained Death / 法医学杂志

Objective T o explore the genetic variation sites of caveolin (C A V ) and their correlation w ith sudden unexplained death (SU D ).Methods The blood sam ples w ere collected from SU D group (71 cases), coronary artery disease (C A D ) group (62 cases) and control group (60 cases), respectively. T he genom e D N A w ere extracted and sequencing w as perform ed directly by am plifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PC R . T he type of heritable variation of CVA w as con-firm ed and statistical analysis w as perform ed. Results A total of 4 variation sites that m aybe significa-tive w ere identified in SU D group, and tw o w ere new found w hich w ere CAV1: c.45C>T (T 15T ) and CAV1:c.512G>A (R 171H ), and tw o w ere SN P loci w hich w ere CAV1:c.246C>T (rs35242077) and CAV3:c.99C>T (rs1008642) and had significant difference (P<0.05) in allele and genotype frequencies betw een SU D and control groups. Forem entioned variation sites w ere not found in C A D group. Conclu-sion T he variants of CAV1 and CAV3 m ay be correlated w ith a part of SU D group.

Molecular Genetic Analysis of One Sudden Unexplained Death in the Young by Whole Exome Sequencing / 法医学杂志

Objective To find the mutation of disease-causing genes of sudden unexplained death syn-drome (SU D S ) in the young by whole exome sequencing in one case. Methods O ne SU D S case was found no obvious fatal pathological changes after conventional autopsy and pathological examination. The whole exome sequencing was performed with the Ion Torrent PGMTM Systemwith hg19 as reference se-quence for sequencing data. The functions of mutations were analyzed by PhyloP, PolyPhen2 and SIFT. A three-step bioinformatics filtering procedure was carried out to identify possible significative single nu-cleotide variation (SN V ), which was missense mutation with allele frequency <1% of myocardial cell. Results Four rare suspicious pathogenic SN V were identified. C ombined with the analysis of convention-al autopsy and pathological examination, the mutation MYOM 2 (8_2054058_G/A ) was assessed as high-risk deleterious mutation by PolyPhen2 and SIFT, respectively. Conclusion Based on the second genera-tion sequencing technology, analysis of whole exome sequencing can be a newmethod for the death cause investigation of SU D S. The gene MYOM2 is a newcandidate SU D S pathogenic gene for mecha-nismresearch.

The relationship between the social support and the quality of life of sudden unexplained death population in Yunnan / 中华行为医学与脑科学杂志

Objective To explore the correlations between the social support and the quality of life to them who live in Yunnan sudden unexplained death ward,and provide a scientific basis for taking effective measures to improve the people' s quality of life in the ward.Methods Using the cross-sectional household survey to collect the information of the inhabitants on social support and quality of life by the Social Support Scale,and the WHOQOL-brief Scale.Results The total score of social support,scores of subjective support,objective support in Yunnan sudden death ward ((40.85±8.34),(9.58±3.58),(23.86±4.87)) were lower than those of the control group in the same dimension ((41.82±7.12),(10.47±3.26),(24.51±4.68)) (all P＜0.05).But the score of social support utility in Yunnan sudden death ward (7.41±2.67)was no significant difference between the two groups (6.84±2.56,P＞0.05).After using multiple linear regression to control other confounding factors,such as house-hold income per capita,scores of social support,subjective support,objective support and social support utility were positively correlated with the score of quality of life in Yunnan sudden death ward (the correlation coefficient between the scores of social support and the dimensions related to the quality of life were 0.30,0.11,0.29,0.28,0.36;the correlation coefficient between the scores of objective support and the dimensions related to the quality of life were 0.15,0.05,0.13,0.14,0.19;the correlation coefficient between the scores of subjective social support and the dimensions related to the quality of life were 0.18,0.06,0.21,0.23; the correlation coefficient between the scores of social support utility and the dimensions related to the quality of life were 0.11,0.05,0.10,0.09,0.11 (all P＜0.05).Conclusions The people who live in Yunnan sudden death ward get less social support and social support utility is low,which cause the worse quality of their life.To make this situation better,more social support is necessary to enhance the utilization.