I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.

RBM20 is one of the genes predisposing to dilated cardiomyopathy (DCM). Variants in the RS domain have been reported in many DCM patients, but the pathogenicity of variants within the RNA-recognition motif remains unknown. Two human patients with the I536T-RBM20 variant without an apparent DCM phenotype were identified in sudden death cohorts.

An autopsy case of multiple psychotropic drug poisoning.

A fatal poisoning case involving etizolam, phenobarbital, promethazine and chlorpromazine is presented. Quantitative toxicological analysis showed that the concentrations of etizolam, phenobarbital, promethazine and chlorpromazine in the femoral blood were 86 ng/ml, 5082 microg/ml, 0.107 microg/ml and 0.

An autopsy case of carbamazepine poisoning.

We present a case of fatal carbamazepine poisoning. Quantitative analysis of carbamazepine using high performance liquid chromatography, revealed that the concentrations of carbamazepine were 50.2 microg/ml in the femoral venous blood and 60.

Postmortem genetic analysis for a sudden death case complicated with Marfan syndrome.

We report here a sudden death case of a patient previously diagnosed as Marfan syndrome (MFS). The victim was dead on the wheel and the cause of death was diagnosed to be a rupture of the thoracic aorta by autopsy findings. MFS is an autosomal dominant disorder of the connective tissue and can be a cause of sudden death.

Bromide detection in blood using energy dispersive X-ray fluorescence; a chemical marker supportive of drowning in seawater.

Energy dispersive X-ray fluorescence spectrometry (EDX) enables rapid, non-destructive, multi-elemental analysis. Using EDX, bromide was detected in seawater but not in freshwater. We applied EDX to the detection of bromide in cardiac blood from medico-legal autopsy cases to obtain additional evidence supportive of seawater drowning.

Enhancement effect of ethanol on lipopolysaccharide-induced procoagulant status in human umbilical endothelial cells.

In spite of the inhibitory effects of ethanol (EtOH) on platelet function, soft blood clots are often observed in cadaveric blood in cases of sudden death after alcohol ingestion. In order to resolve this discrepancy, we have focused on the role of vascular endothelial cells. We tried to investigate the effects of EtOH and LPS on endothelial cells from various perspectives; thrombogenic factor (Von Willebrand factor, VWF), fibrinolytic factor (tissue plasminogen activator, tPA) and inflammatory factor (Interleukin-6, IL-6).

Effects of dopamine antagonists on methamphetamine-induced dopamine release in high and low alcohol preference rats.

The authors have previously shown that high alcohol preference rats (HAP) have a significantly higher sensitivity than low alcohol preference rats (LAP) for methamphetamine (MAP). In this study, changes in dopamine and serotonin release induced by MAP (1 mg/kg, intraperitoneally) after pre-treatment with D1 and D2 receptor antagonists were examined in the striatum of rats with different alcohol preferences to elucidate differences in receptor levels between the two rat strains. D1 receptor antagonist SCH23390 or D2 receptor antagonist haloperidol were administrated intracerebroventricularly 10 min before MAP stimulation.

Detection of metallic elements from paraffin-embedded tissue blocks by energy dispersive X-ray fluorescence spectrometry.

Energy dispersive X-ray fluorescence spectrometry (EDX) enables rapid, non-destructive, multi-elemental analysis. Using EDX, lead and some other metallic elements were detected in paraffin-blocks in which skin samples from a gunshot wound were embedded. Lead was not identified in control samples from non-injured cases.

Positive identification facilitated by implanted metallic plate and screws.

Personal identification is an essential subject in forensic practice. With skeletonized remains, an anthropological examination is performed for personal identification. Here we describe the positive identification of skeletonized human remains from the serial numbers of implanted metallic plate and screws.

Analysis of the tracheal contents using headspace gas chromatography-mass spectrometry to screen for accelerant use.

We describe here the usefulness of analysis of tracheal contents in a case of death by fire, which revealed that the deceased had used the accelerants. The analysis of tracheal contents provides useful information for the determination of the circumstances of the scene.

An autopsy case of poisoning with ethanol and psychotropic drugs.

A case of fatal poisoning involving ethanol with psychotropic drugs is presented. Quantitative toxicological analysis showed that the concentrations of ethanol, amoxapine and phenobarbital in the femoral blood were 2.86 mg/ml, 0.

Forensic toxicological implication of an autopsy case of mixed drug overdose involving clomipramine, chlorpromazine and flunitrazepam.

A case of fatal poisoning involving clomipramine, chlorpromazine and flunitrazepam is presented. Quantitative toxicological analysis showed that the concentrations of clomipramine, chlorpromazine and 7-aminoflunitrazepam (a metabolite of flunitrazepam) in the femoral blood were 3.24 microg/ml, 0.

An autopsy case of asthmatic death--usefulness of biochemical examination.

Background: Asthma is the one of the major causes of sudden death in Japan. Postmortem diagnosis of asthma has been based on morphological findings in lungs, but it histological evidence, was also reported that the biochemical markers such as total and specific immunoglobulin E (IgE) are useful.

Case Report: We present here a case of fatal asthmatic death.

[Pulmonary asbestosis: an autopsy case].

The deceased was a 75-year-old male, found dead in his home. He had a history of occupational asbestos exposure for 13 years. At autopsy, there was diffuse fibrosis of the lung, with diffuse pleural thickening.

An autopsy case of imipramine poisoning.

We present a fatal imipramine poisoning. Quantitative analysis of imipramine and its metabolite, desipramine, was performed by high-performance liquid chromatography. The concentrations of imipramine and desipramine were 18.

An autopsy case of infectious endocarditis in a methamphetamine abuser usefulness of microbiological examination.

We present here a case of sepsis due to infectious endocarditis in a methamphetamine abuser. A 32 year-old male presented high fever and abdominal pain last two weeks. He was admitted to the hospital on the diagnosis of infectious endocarditis.

High alcohol preferring (HAP) and low alcohol preferring (LAP) rats show altered proopiomelanocortin (POMC) messenger RNA expression in the arcuate nucleus.

Aims And Methods: We have investigated proopiomelanocortin (POMC) and neuropeptide Y (NPY) gene expression in the arcuate nucleus of the hypothalamus comparing high alcohol preference (HAP) rats and low alcohol preference (LAP) rats under basal conditions using in situ hybridization histochemistry.

Results: A significantly higher expression of POMC mRNA was observed in HAP rats compared with LAP rats. In contrast, no difference in NPY mRNA expression was observed between the two rat lines.