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Japan is surrounded by the sea and is also a mountainous country with many rivers. Japan has the second- highest rate of deaths caused by drowning in the world. Pleural effusion (PE) is one of the major findings at autopsy. It is found in approximately 80% of drowning mortalities and is observable for a relatively long postmortem interval (PMI). We focused on the amount of pleural fluid in drowning cases, discussed the relationship of PE with the drowning environment, water temperature, and postmortem interval, and established more simple and practical criteria for the diagnosis of drowning. We measured the weight of the lungs, PE, and their sum as the intrathoracic (IT) weight (total weight of lungs + pleural effusion), and calculated the PE ratio [(PE weight/IT weight) × 100]. A total of 130 drowning deaths diagnosed through forensic autopsies were investigated in this study. The cases were classified by drowning environment (freshwater, brackish water, and seawater), water temperature (under 20 °C, more than 20 °C), and postmortem interval (less than 1 day, 1–3 days, more than 3 days). The present study demonstrated that the PE ratio may be more effective for the diagnosis of drowning. Moreover, the accumulation of PE is affected by drowning environment, water temperature, and PMI. Collectively, it is important to assess the PE ratio and consider these factors in autopsy cases of victims found in water. [ABSTRACT FROM AUTHOR]

The article reports that according to research studies no association has been found between cardiac ion channel variants and sudden infant death. Recent molecular autopsy studies have although identified arrhythmia and inherited metabolic disease as possible cause of SUD and that small number of cases were due to disease-causing gene variants.

• Catecholamine levels were measured in serum from autopsy cases. • The MAOA -uVNTR polymorphism was associated with serum adrenaline levels in females. • The MAOA -uVNTR polymorphism was associated with serum dopamine levels in females. • The MAOA -uVNTR polymorphism was not associated with serum noradrenaline levels in females. • The MAOA -uVNTR polymorphism was not associated with serum catecholamine levels in males. Monoamine oxidase A (MAOA) catalyzes oxidative deamination of catecholamines. A functional variable number tandem repeat (VNTR) polymorphism in the promoter region of the MAOA gene has been previously reported. In the present study, we measured serum adrenaline (Adr), noradrenaline (Nad), and dopamine (DA) levels in 90 male and 34 female Japanese autopsy cases in which amphetamines or psychotropic drugs were not detected. We examined the frequencies of MAOA -uVNTR alleles in these cases and investigated the effects of the MAOA -uVNTR polymorphism on serum Adr, Nad, and DA levels. Evaluation indicated no significant association between MAOA -uVNTR polymorphism and serum Adr, Nad, or DA levels in males, although a significant association between MAOA -uVNTR polymorphism and serum Adr and DA levels were observed in females. Females with the 3/3 genotype had higher serum Adr and DA levels than those with a 4-repeat allele (3/4 and 4/4 genotypes) (p = 0.048 and 0.020, respectively). There was no significant association between MAOA -uVNTR polymorphism and serum Nad levels in females. The present study indicates that MAOA -uVNTR polymorphism influences serum Adr and DA levels only in females. [ABSTRACT FROM AUTHOR]

Methamphetamine (MA) is an illicit stimulant that affects the central nervous system. Cytochrome P450 2D6 (CYP2D6) plays an important role in MA metabolism. Numerous allelic variants confer substantial variation in CYP2D6 activity among individuals. In the present study, we examined the frequencies of CYP2D6 alleles, including CYP2D6*1, *2, *4, *5, *10, *14A, *14B, *18, and *36, and multiplication, in 82 forensic autopsy cases of MA abusers and 567 autopsy cases in which MA was not detected (controls). Ultrarapid metabolizer (UM), extensive metabolizer (EM), intermediate metabolizer (IM), and poor metabolizer (PM) phenotypes were predicted from CYP2D6 genotypes. Of MA abusers, 64 subjects were predicted to be EM, 17 were IM, and 1 was UM. No MA abuser had the predicted PM phenotype. No significant differences in CYP2D6 phenotype frequencies were found between MA abusers and controls. MA and amphetamine (AMP) concentrations were measured in the right heart blood, left heart blood, peripheral external iliac blood, urine, pericardial fluid, and bone marrow of MA abusers. MA concentrations in urine and bone marrow were significantly higher in IM than in EM. AMP concentration was not associated with CYP2D6 phenotype in any body fluid. These results suggest that the MA concentration in body fluids is influenced by CYP2D6 phenotypes in the Japanese population. [ABSTRACT FROM AUTHOR]

Based on a prospective case-control study of forensic autopsies, the causes of cocaine (COC)-related sudden death (SD) are cardiovascular events in 62.0% of cases, cerebrovascular events in 14.0%, and others. A forensic autopsy of a male in his early forties revealed subarachnoid hemorrhage (SAH) at the base of the brain. A cerebral arterial aneurysm was not detected even though hemorrhage was clearly observed in the anterior cerebral artery (ACA) bifurcation area. The brain weighed 1488 g and was edematous. We histopathologically examined the left-ACA, right-ACA, and anterior communicating artery (Acom). Thickening of the internal vessel wall was observed as a pathological change. The internal elastic lamina of the right-ACA, near the peripheral part of Acom, was meandered with a jagged appearance. A toxicology examination detected COC and its metabolites, particularly benzoylecgonin, in blood and urine samples. Therefore, the present case was regarded as a non-fatal intoxication case, but also a COC-related death. Ethanol was also detected, indicating that COC was taken in combination with alcohol. The cause of COC-related death in the present case was SAH. COC use is known to induce aneurysmal SAH; however, whether an aneurysm had formed in the present case was unclear. Meander, extension, and degeneration of the internal elastic lamina of the right-ACA were observed near the bifurcation from the Acom. This area corresponded macroscopically with that considered to be the bleeding point from the blood vessel. Therefore, the present case was diagnosed as COC-related SD. [ABSTRACT FROM AUTHOR]

Abstract: Toluene, an abused substance in Japan, is well known as a neurotoxic chemical and has been shown to have neurobehavioral and electrophysiological effects. We used a fluorescence differential display PCR technique to analyze the genes expressed in the brain by toluene inhalation. We found 20 genes that were differentially expressed by toluene exposure. We confirmed by re-amplified PCR, nucleotide sequence and quantitative real-time PCR that of the 20 cDNAs, only 10 showed reproducible expression patterns by toluene inhalation. Of these genes, four had high homology with known genes (MIDA1, PEBP2 β, phosphatidylserine synthase 2 and SKAP55) and six fragments were new sequence tags of unknown genes. This result may contribute to reveal the patho-physiological effects of toluene inhalation on rat brain. [Copyright &y& Elsevier]

SCN5A (sodium channel, voltage-gated, type V, alpha subunit) gene encodes the cardiac sodium channel, a member of the voltage-gated sodium channel family. SCN5A mutations have been associated with a variety of inherited arrhythmias, including long QT syndrome and Brugada syndrome. We report an autopsy case of sudden unexpected nocturnal death syndrome. A man in his thirties died at night while sleeping. At autopsy, no traumatic injury, disease or drug intake was observed as a possible cause of death. We examined mutations in the SCN5A gene and identified a heterozygous mutation causing an R1193Q amino acid substitution. It was reported that the R1193Q polymorphism in the SCN5A gene destabilizes channel inactivation and may be a risk factor for Brugada and long QT syndrome. It may be considered that the cause of death in this case was sudden cardiac death., (Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)

Methamphetamine (MA) use sometimes causes rhabdomyolysis, which has been associated with mortality. We analyzed potential rhabdomyolysis-susceptibility genes from autopsy samples of 18 methamphetamine abusers. We examined mutations in the ryanodine receptor 1 (RYR 1), carnitine palmitoyltransferase II (CPT II), very long-chain acyl-CoA dehydrogenase (VLCAD), and cytochrome P450 (CYP) 2D6 genes. Different RYR1 mutations that caused amino acid substitutions ((612)Ala>Thr and (4295)Ala>Val) were identified in 2 cases. In the CPT II gene, there was a new mutation ((545)Glu>Ala) in 1 case and there were mutations that did not change activity in 17 cases. In the VLCAD gene, there were mutations that did not change activity in 6 cases. In the CYP2D6 gene, homozygosity for CYP2D6∗10, which is associated with significantly reduced metabolic activity, was found in 3 cases, while 2 cases carried a different previously unreported missense mutation ((344)Arg>Gln and (48)His>Tyr). RYR1 mutations and the new CPT II mutation identified in this study were not observed in a control group. Eighteen cases that were genetically analyzed were also investigated immunohistochemically to diagnose the possibility of rhabdomyolysis. However, there were no significant mutations that reduced enzyme activity in the suspected cases of rhabdomyolysis. These data suggested no obvious relationship between the genetic mutations observed in this study and rhabdomyolysis., (Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.)

The drowning index (DI) was devised to diagnose drowning deaths, and is the weight ratio of the lungs and pleural effusion to the spleen. Among drowning (94 cases), mechanical asphyxia (47 cases), and acute cardiac (42 cases) deaths, within 2 weeks postmortem we compared six markers, the weight of each lung, pleural effusion weight, total weight of the lungs and pleural effusion, spleen weight, heart weight, and the DI. Statistical analysis revealed that the total weight was heavier, while spleen weight was lighter, and the DI was significantly larger in the drowning group (p<0.05). We examined the relation between the postmortem time and these markers. We divided 94 drowning cases into three groups according to the postmortem duration, group A (0-3 days; 43 cases), group B (3-7; 29 cases), and group C (7-14; 22 cases). The cut-off point of the DI was analyzed using the receiver operating characteristic (ROC) curve. As a result, the DI cut-off point was 14.1 in cases within two postmortem weeks. Drowning is still a difficult autopsy diagnosis, but in our experience, DI is a valuable indicator., ((c) 2009 Elsevier Ireland Ltd. All rights reserved.)

In this study, four Y-SNPs (M122, P31, M174 and M216) were analyzed in 207 Japanese males (Gunma, Fukui, Kagoshima and Tokushima Prefecture). Eleven Y-STRs, including DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS389, DYS385 and YCAII were also investigated in each prefecture. As a new technique, we used Cycleave PCR method with real-time PCR, which allows detection of Y-SNPs by an easier and faster method. Regarding Y-SNPs, each region in Japan could be almost classified based on two types, the D and O type. We found that the O type was remarkably higher in Kagoshima Prefecture than in other areas. Moreover, the D type was more prevalent than the O type in Gunma Prefecture, which is geographically located at the center of Japan. These findings of geographical differences may be related to the historical background and population movements of Japanese. Y-STRs were analyzed and data from Tokushima Prefecture that we previously reported was included in the analyses. As a result, DYS385 showed the highest gene diversity (GD) value (GD=0.953), while DYS391 showed the lowest GD value (GD=0.288). Haplotype diversity (HD) value of only Y-STRs (Extended haplotype) was estimated at 0.99981, whereas the HD value of Y-SNPs/Y-STRs was 0.9988.

The Y-chromosome short tandem repeat (STR) systems including DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385 and YCAII were investigated in 121 Japanese males (Tokushima area). Analysis of the nine loci permitted classification of the samples into 107 haplotypes, and the haplotype diversity was estimated to be 0.989. DYS385 showed the highest gene diversity (GD) value (GD=0.946), while DYS391 showed the lowest GD value (GD=0.27). Furthermore, in DYS392, we found a new mutant allele that added a T within the repeat region (a mutation in the repetitive region), and the allele was designated 13.1 according to the sequence structure. We also detected allele 20 in DYS392 as a new allele. In DYS385, a new allele 26 that has not been previously reported was observed.

We applied Y-STRs (DYS385/DYS19/YCAII) to an adhesive plaster left at a crime scene. This plaster may have included body fluids from more than one person. Firstly, we performed preliminary examinations, ABO-blood type examinations, and commonly used DNA examinations (D1S80, HLADQalpha, TH01, and PM) on these specimens. As a result of these examinations, we could evidence that suspect A did not contacted with the plaster, but could not confirm the presence of perspiration from suspect B. As the next step, we applied Y-STR examination to the plaster. Using this examination, we detected alleles that coincided to those of suspect B. We also concluded that the fluid from an unidentified person was vaginal fluid based on crime scene investigation. Y-STRs examination data obtained from 124 persons in Tokushima prefecture showed that 1.613% of individuals demonstrated haplotypes 10-18/15/19-23, which was detected from the plaster and from suspect B. Therefore, we considered that there was a high probability that the persiration detected in the plaster was that of suspect B. Based on these studies, we concluded that Y-STR examination of trace evidence was very useful to screen suspects using materials that contained body fluid from more than one person.

A putrefied cadaver of a middle-aged woman was found drifting in the 'Kii" water course. Autopsy findings indicated that the postmortem duration was about one week, and the cause of death was assumed to be drowning. In this case, a nail was collected as a sample for personal identification. After five months of police investigation, persons thought to be her family, husband and child, were found. A combination of D1S80 and the short tandem repeat (STR) typing system using an AmpFISTR Profiler PCR Amplification kit was performed for identification. Nine STRs (D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317 and D7S820) and Amelogenin were analyzed by this kit. Those DNA typings successfully confirmed the family relation for personal identification of the cadaver. This analysis system may be useful for identification of a decomposed cadaver.