Construction of 13-locus X-STR multiplex PCR system that reinforces Argus X-12 kit discrimination capacity: Application to the Malay population.

Closely linked groups of markers on the X chromosome are very useful for testing complex kinship relationships involving X-STR transmission. The Argus X-12 kit, a unique commercially available kit, can obtain haplotypes of 4 linkage groups (LGs) consisting of 3 markers. Although many population data have been reported for forensic purposes, differences in discrimination ability exist between LG1 and LG2, 3, and 4 in East Asian populations, and the data of this kit would become more useful if the discrimination ability of the latter groups were increased.

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Background: Congenital central hypoventilation syndrome (CCHS), which is caused by PHOX2B with phenotypic variations, has a point of controversy: CCHS is putatively involved in autopsy cases of sudden unexpected infant death (SUID) including sudden infant death syndrome.

Objective: The relation of CCHS to SUID cases was investigated by extensive genotyping of PHOX2B.

Methods: We analyzed 93 DNA samples of less than one-year-old SUID cases that were autopsied in our department.

Y chromosome analysis for common surnames in the Japanese male population.

For many years of Japan's long history, Japanese surnames have been handed down patrilineally. This study investigated relations between major surnames and Y chromosomal polymorphism among the Japanese male population. To analyze genetic phylogeny in namesakes, the Y-single nucleotide polymorphism (SNP) plus Y-short tandem repeat (STR) approach was employed.

The importance of the rate of pure "attended deaths at home" for objective outcome indicator for assessing the prevalence of home care in Japan.

Background: No study has yet been performed on the importance of the rate of pure "attended deaths at home," excluding examined deaths subjected to a postmortem examination. Therefore, in the present study, we investigated actual state of pure "attended deaths at home," in order to provide reference data for the future development of end-of-life care at home.

Methods: We performed a detailed survey in Yokohama City according to the type of death, age, and underlying cause of death in cases of home deaths, based on the detailed version of the Vital Statistics Survey Death Forms.

MicroRNA profiling of gastric content from breast-fed and formula-fed infants to estimate last feeding: a pilot study.

Recently, we were consulted about a challenging case, where an infant died by poisoning and the drug-dependent mother insisted that she unintentionally gave the toxic drug through breast milk. Accordingly, we investigated the utility of immunoblotting and microRNA (miRNA) profiling of the infant's gastric content (GC) to differentiate between breast-feeding and formula-feeding. As a pilot study, we sampled the GC from breast-fed (GCB) and formula-fed (GCF) infants, as well as gastric juice (GJ) from fasted adults at autopsy.

The Impact of Discontinuation of the Medical Examiner System: Cases of Drowning in the Bathtub at Home.

The incidence of death by drowning greatly varies among different prefectures in Japan, mainly due to climate difference. However, there could be other factors affecting the incidence of deaths besides climate, for example, differences in regional death investigation systems. Here, we aimed to elucidate other such factors affecting the mortality data of drowning in the bathtub, especially the effects of discontinuing the medical examiner system.

Human short tandem repeat identification using a nanopore-based DNA sequencer: a pilot study.

Short tandem repeats (STRs) are repetitive DNA sequences that are highly polymorphic and widely used for personal identification in the field of forensic medicine. The standard method for determining the repeat number of STRs is capillary electrophoresis of PCR products; however, the use of DNA sequencing has increased because it can identify same-sized alleles with nucleotide substitutions (iso-alleles). In this study, we performed human STR genotyping using a portable nanopore-based DNA sequencer, the MinION, and evaluated its performance.

A descriptive study of solitary death in Yokohama City.

Background: The solitary death rate in Japan is expected to continue increasing because of its growing super-aged society and the rapid growth of home care in the country. To accurately determine the actual status of solitary deaths, we used a novel analysis method of combining vital statistics and ambulatory care information in Yokohama City.

Methods: Data of persons who died at home in 2013 were obtained from death certificate notifications.

Cytokine Elevation in Sudden Death With Respiratory Syncytial Virus: A Case Report of 2 Children.

Respiratory syncytial virus (RSV) is the most common viral cause of bronchiolitis and pneumonia in young children worldwide. Premature birth, bronchopulmonary dysplasia, congenital heart disease, and Down syndrome are risk factors for high mortality and prolonged morbidity after RSV infection. Conversely, many previously healthy, full-term children are also admitted to the hospital because of RSV, and some of them experience severe sequelae or die due to the virus.

Combined effects of multiple linked loci on pairwise sibling tests.

The advanced multiplex STR system, PowerPlex Fusion, includes four linked locus pairs. The conventional Identifiler system has one pair of linked loci. Therefore, sibling tests conducted using the advanced system might be more affected by linkage than those conducted using the conventional system.

MicroRNA Stability in FFPE Tissue Samples: Dependence on GC Content.

MicroRNAs (miRNAs) are small non-coding RNAs responsible for fine-tuning of gene expression at post-transcriptional level. The alterations in miRNA expression levels profoundly affect human health and often lead to the development of severe diseases. Currently, high throughput analyses, such as microarray and deep sequencing, are performed in order to identify miRNA biomarkers, using archival patient tissue samples.

Evaluation of Y chromosomal SNP haplogrouping in the HID-Ion AmpliSeq™ Identity Panel.

The Y chromosomal haplogroup determined from single nucleotide polymorphism (SNP) combinations is a valuable genetic marker to study ancestral male lineage and ethical distribution. Next-generation sequencing has been developed for widely diverse genetics fields. For this study, we demonstrate 34 Y-SNP typing employing the Ion PGM™ system to perform haplogrouping.

MicroRNA deep sequencing reveals chamber-specific miR-208 family expression patterns in the human heart.

Background: Heart chamber-specific mRNA expression patterns have been extensively studied, and dynamic changes have been reported in many cardiovascular diseases. MicroRNAs (miRNAs) are also important regulators of normal cardiac development and functions that generally suppress gene expression at the posttranscriptional level. Recent focus has been placed on circulating miRNAs as potential biomarkers for cardiac disorders.

Effects of using the GlobalFiler™ multiplex system on parent-child analyses of cases with single locus inconsistency.

Parent-child analyses sometimes reveal inconsistency of shared alleles at only one locus. This is conventionally called "single locus exclusion", which results from mutational events and the presence of null alleles. Here, in parent-child analyses of the Japanese population, we detected exclusions by using the GlobalFiler™ system comprising 21 short tandem repeat loci.

MicroRNA Stability in Postmortem FFPE Tissues: Quantitative Analysis Using Autoptic Samples from Acute Myocardial Infarction Patients.

MicroRNAs (miRNAs) are very short (18-24 nucleotides) nucleic acids that are expressed in a number of biological tissues and have been shown to be more resistant to extreme temperatures and pH compared to longer RNA molecules, like mRNAs. As miRNAs contribute to diverse biological process and respond to various kinds of cellular stress, their utility as diagnostic biomarkers and/or therapeutic targets has recently been explored. Here, we have evaluated the usefulness of miRNA quantification during postmortem examination of cardiac tissue from acute myocardial infarction (AMI) patients.

Evaluation of advanced multiplex short tandem repeat systems in pairwise kinship analysis.

The AmpFLSTR Identifiler Kit, comprising 15 autosomal short tandem repeat (STR) loci, is commonly employed in forensic practice for calculating match probabilities and parentage testing. The conventional system exhibits insufficient estimation for kinship analysis such as sibship testing because of shortness of examined loci. This study evaluated the power of the PowerPlex Fusion System, GlobalFiler Kit, and PowerPlex 21 System, which comprise more than 20 autosomal STR loci, to estimate pairwise blood relatedness (i.

The effect of temperature on the mechanical aspects of rigor mortis in a liquid paraffin model.

Rigor mortis is an important phenomenon to estimate the postmortem interval in forensic medicine. Rigor mortis is affected by temperature. We measured stiffness of rat muscles using a liquid paraffin model to monitor the mechanical aspects of rigor mortis at five temperatures (37, 25, 10, 5 and 0°C).

Identification of the actinomycete 16S ribosomal RNA gene by polymerase chain reaction in oral inflammatory lesions.

Objectives: To examine the histopathological characteristics of inflammatory lesions containing Actinomyces based on DNA sequencing. Furthermore, case reports of actinomycosis in the maxillofacial region are summarized by a review of the literature.

Study Design: The study comprised 12 cases of inflammatory lesions containing Actinomyces as diagnosed by DNA analysis.

An experimental study on the macroscopic findings of ligature marks using a murine model.

Macroscopic findings of ligature marks are mainly affected by the characteristics of the ligature, the severity of external forces acting on the ligature, and the period that the neck has been pressed by the ligature. Therefore, the appearances of ligature marks formed by ligatures with the same characteristics differ depending on 2 factors: force and time. To examine which of these factors contributes more significantly to the macroscopic findings of ligature marks, a semiquantitative and experimental study using a murine model was performed.

Longitudinal evaluation of immunohistochemical findings of milk aspiration: an experimental study using a murine model.

To examine the longitudinal change of pathological findings of the lung and other organs in milk aspiration, an experimental study using a murine model was carried out. Either 0.5 or 1.

Toxicological analysis of 17 autopsy cases of hydrogen sulfide poisoning resulting from the inhalation of intentionally generated hydrogen sulfide gas.

Although many cases of fatal hydrogen sulfide poisoning have been reported, in most of these cases, it resulted from the accidental inhalation of hydrogen sulfide gas. In recent years, we experienced 17 autopsy cases of fatal hydrogen sulfide poisoning due to the inhalation of intentionally generated hydrogen sulfide gas. In this study, the concentrations of sulfide and thiosulfate in blood, urine, cerebrospinal fluid and pleural effusion were examined using GC/MS.

Sudden death involving inhalation of 1,1-difluoroethane (HFC-152a) with spray cleaner: three case reports.

Spray cleaner is a cleaning product containing compressed 1,1-difluoroethane (HFC-152a) to blow dust off electric devices and other sensitive equipment; however, it is also inhaled to induce euphoria. This report describes three cases of death involving HFC-152a inhalation with spray cleaner under different circumstances. In case 1, death was during inhalation for euphoria with which led to having frostbite.