Legal Medicine

Recently it has been recognized that a considerable number of copy number variations (CNVs) are associated with diseases and other complex human traits. In our previous study, we developed a simple quantitative real-time PCR (Q-PCR) method for analysis of CNV copy number, which had the advantage of obviating the need for reference DNA with a known copy number. Using DNA samples obtained from 231 Japanese individuals, we applied this method for analyzing the copy number of a candidate CNV associated with body height, located in the neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase (NEDD4L) gene...

The diagnosis of diffuse axonal injury (DAI) is an important task in forensic pathology and clinical medicine. This study aimed to explore the use of Fourier transform infrared spectroscopy (FTIR) to detect DAI. The DAI area of the rat model was detected point by point by the FTIR-mapping system. Infrared spectral data of DAI were obtained by selecting the amide A band, CH3 symmetric stretching, collagen triple-helix structure and asymmetric stretching vibrational frequency of nucleic acid and phospholipid PO2 as the target peak positions...

We presented allele frequencies of 27 X-chromosomal short tandem repeats (DXS6807, DXS9902, DXS6795, DXS6810, DXS10076, DXS10077, DXS10078, DXS10162, DXS10163, DXS10164, DXS7132, DXS981, DXS6800, DXS6803, DXS6809, DXS6789, DXS6799, DXS7424, DXS101, DXS7133, GATA172D05, DXS10103, HPRTB, GATA31E08, DXS8377, DXS10147, and DXS7423) obtained from 352 unrelated individuals in Egypt. No deviation from Hardy-Weinberg equilibrium was detected. Two pairs of adjacent loci showed significant linkage disequilibrium. In the principal component analysis plot, the Egyptian data were located between Europe and sub-Saharan Africa, away from Asia...

PURPOSE: The objective of this study was to illustrate the global research productivity and tendency of forensic anthropology in recent ten years (2008-2017) by bibliometric analysis. METHODS: "Forensic anthropology" was used as the Medical Subject Headings term and topic in PubMed and Web of Science Core Collection. RESULTS: As 5130 articles retrieved, two independent investigators evaluated all of them respectively. After restricting the published year, excluding duplicated and irrelevant articles, 1663 articles were available...

The present case concerns a 29 years-old male with a history of mental disorder, who committed suicide by gunshot at the posterior midline of the head. This location is very rare in suicide cases. The weapon used is the replica of a muzzle-loading Remington Revolver with homemade ammunition prepared with easily available materials such as lead fishing weights, percussion primers, and black powder from firecrackers.

We evaluate structural damage effects of heat on DNA obtained from the dental pulp of restored premolars. We studied three groups (A, B and C) each group comprised twenty premolars extracted from five patients. Three of the four premolars of each donator were restored with different materials: amalgam, glass ionomer and resin, and one unrestored premolar was used as control. The group A was not exposed to heat, while B and C groups were exposed to 100 °C and 300 °C, respectively. The DNA damage was evaluated as percentage of genotyping of 15 Short Tandem Repeats (STRs) and amelogenin and by Fourier-transform infrared spectroscopy (FTIR)...

The aim of this study was to obtain soft tissue thickness (STTs) of Caucasian males starting from 12 bone landmarks, to allow facial reconstruction and assign an identity to skeletal remains. When a skeleton is found without any circumstantial evidence of identity, through anthropological investigations it is possible to estimate age, sex, and race studying specific characteristics of bones. This first step of identification process helps investigators to narrow down the identity suppositions, but not always forensic analysis guarantees a final positive identification...

A total of 94 unrelated individuals from Turkmens ethnic group in Iran were typed for forty-nine of the autosomal single nucleotide polymorphisms (SNPs) in the SNPforID 52plex using the SNaPshot assay. Allele frequencies are presents for the 49 SNPs. No deviation from Hardy-Weinberg equilibrium (HWE) was observed in all but one of the 49 SNP systems and no significant linkage disequilibrium was detected for any SNP pairs. FIS and FST were estimated. A statistically significant global FST value was obtained when Turkmens ethnic group were compared with other 20 populations in Turkey, Israel, Pakistan, India, China, Taiwan, Japan, Thailand, Siberia, Algeria, Somali, Uganda, Mozambique, Angola, Nigeria, Russia, Slovenia, Sweden, France and Spain...

Y chromosome short tandem repeats (Y-STRs) are widely used in forensic DNA analysis. Y-STRs usually genotyped as a monoallelic pattern, or a diallelic pattern at some double-copy loci. Abnormal genotypes with three or four alleles have been reported at DYS385a/b, which is a double-copy locus. However, multi-allelic patterns with more than four alleles have not been reported at this locus. In this study, abnormal five-allelic patterns at DYS385a/b locus were observed in 2 out of 7760 unrelated males from Henan Province, detected by the HG19+14Y fluorescence detection kit; and abnormal six-allelic pattern was observed in 1 out of 4920 unrelated males from Guangdong Province, detected by the AGCU Data Y30 fluorescence kit...

The placenta is a unique and complex organ composed of a mixture of fetal and maternal tissues. In this study, we aimed to detect maternal short tandem repeats (STRs) in degraded placenta from a newborn male baby found abandoned in a river. In order to deduce maternal alleles-which was not possible by sampling of different parts of the placenta-we collected samples from the maternal blood pool in the intervillous space and applied a multi-step method (named tempo-gap DNA extraction) for extracting DNA at defined time points after cell lysis (10 min, 2 h 10 min, and 4 h 10 min)...

Kinship testing based on genetic markers has valuable practical applications. Short tandem repeat polymorphisms (STRPs) can have large number of alleles, and become the dominant marker for kinship identification. However, the high mutation rates affect the identification accuracy. Thus, accurate investigation of the mutation rate of STR loci in different populations is crucial for the reliability of phylogenetic relationships. In present study, forensic parameters and mutation rates (include 95% CI) of 23 short tandem repeats (STR) loci (D3S1358, D1S1656, D2S441, D10S1248, D13S317, D16S539, D18S51, D2S1338, CSF1PO, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433, FGA, D22S1045, PentaE, PentaD and DYS391) were investigated through PowerPlex® Fusion System in Fujian Han population...

The population of Guatemala includes Mestizos (admixed) and different Mayan groups (Native Americans), which have been poorly studied in regards to short tandem repeat (STR) loci used for human identification (HID) purposes. Therefore, 483 unrelated Guatemalan volunteers from one Mestizo and three Mayan populations (Poqomchi, Ixil, and Achi) were analyzed with an AmpFlSTR Identifiler™ kit. Allele frequencies and forensic parameters were obtained for 15 autosomal STRs in these populations. Hardy-Weinberg equilibrium by locus and equilibrium linkage between pair of loci were demonstrated by exact tests in all the studied populations...

To estimate forensic age, the Study Group of Forensic Age Diagnostics of the German Association of Forensic Medicine (AGFAD) has recommended the radiological investigation of the medial clavicular epiphysis (MCE). This study aimed to investigate the relation between the maturation of the MCE and age in a contemporary Japanese population using a standard five-stage system by Schmeling et al. and Kellinghaus substage system. A total of 207 cadavers (128 males, 79 females) of known age and sex that underwent postmortem computed tomography (CT) and subsequent forensic autopsy were obtained...

A disaster is an unexpected event causing death or injury to many people. In such events, a large number of casualties may take place, exposing corpses to a harsh environment for days or months. DNA profiling is recognized as one of the primary methods for identifying mass disaster victims, especially when it involves decomposed or fragmented bodies. The objective of this study was to standardize the use of urinary bladder swabs as a source of DNA for the identification of decomposing and carbonized human bodies by Forensic Genetic techniques...

Age is often estimated using teeth because numerous external and internal changes appear due to aging. The purpose of this study was to investigate an age estimation method based on the volume ratio of the internal structure of the crown. 61 maxillary first premolars and 50 maxillary second premolars from subjects aged 20-79 years old were used. Micro CT, which can be used to analyze teeth in a non-destructive manner with high sensitivity, was employed in the present study. In consideration of individual differences among subjects, the volume ratio was calculated for the following four items: The pulp chamber was calculated separately based on the presence of enamel...

BACKGROUND: People with acute psychiatric illness may be at risk of coercion into informal admission. A lack of capacity assessment (CA) and provision of adequate information (PAI) for informal patients may constitute a risk of coercive admitting practice, resulting in increased use of the mental health act (MHA) in the days following admission. We developed and tested a proforma to aid in ensuring CA and PAI for informal admissions. METHOD: A pilot case-study was conducted in 2015 at a U...

Paraquat (PQ) is one of the commonly used herbicides in the world, despite its high toxicity. The ingestion of PQ accidentally or intentionally causes severe damage in diverse organs including the lung. Pulmonary fibrosis triggered by PQ accumulation in the lung epithelial cells is one of the major causes of death. This study investigated the intracellular accumulation of PQ, reactive oxygen species (ROS) generation and mitochondrial injury using two lung epithelial cell lines A549 and BEAS-2B (BEAS). Although A549 exhibit greater resistance to oxidative stress than BEAS, a cytotoxicity assay for PQ demonstrated that EC50 for lethality in A549 was 7 times lower than that in BEAS...

In this study, 27 Y-STRs were analyzed in 347 male individuals from the Yanbian Korean population. Haplotype diversity (HD) and discrimination capacity (DC) values were calculated. Pairwise Rst values were evaluated in AMOVA analysis and visualized through multidimensional scaling (MDS). Yflier Plus system indicated higher Discrimination Power (DP), HD and DC which is 0.9969, 0.9998 and 0.9769. There is no significant genetic distance between Yanbian Koreans and South Koreans, however, there is a great distance from Chinese Han population...

To find out the time since death (PMI) of a human individual, from which only skeletal remains are left is a difficult question to answer, since methods currently available don't bring concrete answers. Subsequent to our validation study on porcine bones, we focused on human bones analysing if collagen degradation would occur at a predictive rate so that the method may be used for PMI-estimation. We tried to reproduce a method for determining the Co/NCo (Collagen to Non-Collagen) ratio of porcine bones Boaks et al...

We report a case of sudden death in a patient who developed extensive gastric necrosis secondary to acute gastric dilatation. A 36-year-old man with mental retardation (but without difficulties in activities of daily living), developed an illness after a meal out with friends, necessitating 3 hospital visits. He returned home after receiving drug therapy; however, his condition deteriorated, and he was transferred to our hospital via ambulance. Whole-body computed tomography performed upon admission revealed gastric dilatation...