Quantification of neuropathological findings by image data for the diagnosis of dementia in forensic autopsy cases

The aim of the present study was to quantify neuropathological findings using image analysis software for the diagnosis of dementia in deceased who underwent forensic autopsy. Of the autopsies performed within 48 hours of death and excluding those of patients with head injury, thermal injury, heat stroke, or intracranial lesions, 8 were of autopsy cases clinically diagnosed with dementia and thus included in the dementia group (D). The non-dementia group (non-D) consisted of 6 deceased without dementia. To compare the D and non-D groups, 6 regions and 7 types of pathological findings were observed semi-quantitatively using 4 conventional stainings. Quantitative analysis of collected image data was performed using image analysis software. Semiquantitative analysis of senile plaques and neurofibrillary tangles was performed with Bielschowsky-Hirano’s silver staining image data. An easy, simple, and effective quantification method of the pathological findings was achieved. However, no significant differences were observed between the two groups, and diagnosis of dementia by the quantification of pathological findings was not successful. Diagnosis of dementia using image data may be possible in future studies with an increased number of autopsies, and by utilizing staining techniques with higher specificity and sensitivity, such as immunohistochemical staining

Organ distribution of p-cresol in HD patients

Background : p-Cresol concentrations are high in the blood of hemodialysis (HD) patients. However, its organ distribution has not yet been investigated in detail. We herein report the distribution of p-cresol in HD patients from forensic autopsy cases. Methods : p-Cresol was measured in the blood, urine, lungs, liver, and kidneys from 4 HD and 4 non-HD cases. Samples were extracted with p-cresol-d8 (internal standard), derivatized, and injected on the GC-MS. Results and Discussion : The total urinary p-cresol/Cr was 79.73 ng/ml in HD cases, which was 16-fold higher than that in non-HD cases. p-Cresol in the blood and kidneys were 30-fold higher or more at 11.92 and 13.08 µg/mL(g), respectively. p-Cresol in the liver and lungs were approximately 20-fold higher at 4.82 and 9.99 µg/g, respectively. p-Cresol was markedly increased in not only the blood, but also the urine and organs of HD cases. The distribution of p-cresol in the blood, urine, and organs differed between HD and non-HD cases. In HD cases, the percentages of conjugated (C) and protein-bound conjugated (PC) urinary p-cresol were 57 and 41%, respectively. C and PC p-cresol was 66% and 25% in the kidneys, respectively, and similar results were obtained in the lungs

Immunohistochemical investigation of the coma blister and its pathogenesis

The erythematous patches and vesicles that are observed in coma patients, usually from an overdose of medication, are known as coma blisters. However, it is unknown whether the degenerated sweat gland is a necrosis or apoptosis. We immunohistochemically examined such skin lesions to investigate the characteristics and pathogenesis of the coma blister. Skin lesions were obtained from a forensic autopsy case, a woman in her thirties, of caffeine intoxication. Those lesions were observed in the left femoral, the lower left thigh, and the right knee. Histologically, the skin lesions showed that the keratinocytes had necrosed and the epidermis was thin in some areas. Eccrine sweat gland degeneration was observed. Obvious inflammatory cell infiltrations were not detected. Immunohistochemically, we stained each skin lesion against CD3, CD8, CD45RO, cytokeratin, 70 kD heat shock protein, ubiquitin, 150 kD oxygen regulated protein, and caspase-cleaved keratin 18 neo-epitope M30. They were also stained with an in situ apoptosis detection kit. Degenerated sweat glands featured CD45RO and M30 immunoreactivity. Immunohistochemical staining for CD45RO, CK-L, and M30 might be useful to observe sweat gland degeneration in the coma blister. Therefore, the apoptosis might be related to coma blisters and sweat gland degenerations

Investigation of Japanese-specific alleles: Most are of Jomon lineage

Japanese-specific alleles are expected to be powerful markers for the differentiation of the Japanese from other people. In this study, three single nucleotide polymorphisms (SNPs) in the GALNT11, H19, and PLA2G12A genes were analyzed in 2396 DNA samples from 25 global populations, and the derived alleles suggested that Japanese-specific alleles exist on autosomes. To identify new Japanese-specific alleles, candidate SNPs obtained from the HapMap database were investigated using 875 DNA samples from nine populations. A total of 67 (nearly) Japanese-specific derived alleles were observed. Of them, 57 showed higher frequencies in the Ryukyuans, living in the southernmost part of the Japanese Archipelago, than in the Wajins living in mainland-Japan, and 43 were also present in Koreans at low frequencies. Jomon skeletons excavated from Hokkaido, the northernmost island of Japan, showed higher frequencies of the three derived alleles in the GALNT11, H19, and PLA2G12A genes than the Ryukyuans, suggesting that most of the 57 derived alleles observed at the high frequencies in the Ryukyuans originated from the Jomon lineage. These novel markers will be useful in the field of forensics. (C) 2014 Elsevier Ireland Ltd. All rights reserved

A hypervariable STR polymorphism in the CFI gene: Southern origin of East Asian-specific group H alleles

Previous studies of four populations revealed that a hypervariable short tandem repeat (iSTR) in intron 7 of the human complement factor I (CFI) gene on chromosome 4q was unique, with 17 possible East Asian-specific group H alleles observed at relatively high frequencies. To develop a deeper anthropological and forensic understanding of iSTR, 1161 additional individuals from 11 Asian populations were investigated. Group H alleles of iSTR and c.1217A allele of a SNP in exon 11 of the CFI gene were associated with each other and were almost entirely confined to East Asian populations. Han Chinese in Changsha, southern China, showed the highest frequency for East Asian-specific group H alleles (0.201) among 15 populations. Group H alleles were observed to decrease gradually from south to north in 11 East Asian populations. This expansion of group H alleles provides evidence that southern China and Southeast Asia are a hotspot of Asian diversity and a genetic reservoir of Asians after they entered East Asia. The expected heterozygosity values of iSTR ranged from 0.927 in Thais to 0.874 in Oroqens, higher than those of an STR in the fibrinogen alpha chain (FGA) gene on chromosome 4q. Thus, iSTR is a useful marker for anthropological and forensic genetics. (C) 2013 Elsevier Ireland Ltd. All rights reserved

A Japanese-specific allele in the GALNT11 gene

In this study, five single nucleotide polymorphisms (SNPs) in the ABCC4, FBN1, CEP152, ZNF804B, and GALNT11 genes were investigated to assess allele frequencies in 14 different populations by a novel pentaplex PCR method. All SNPs were polymorphic in East Asians, whereas mutant alleles were absent or rare in non-East Asians. The frequencies of a mutant allele in FBN1 (rs140598) showed a north-south downward cline in East Asia, whereas those of a mutant allele in ZNF804B (rs1916830) were relatively uniform in East Asia. The highest frequencies of mutant alleles in ABCC4 (rs3765534), CEP152 (rs2289178), and GALNT11 (rs3778922) were observed in Okinawa. The mutant allele in GALNT11 was found only in Far-East Asian populations: the frequencies were about 0.153 in Okinawa, 0.076 in the main island of Japan, and 0.017-0.004 in Korea. These five East Asian- and Japanese-specific SNPs would be useful markers for forensic individualization, in particular, as ancestry-informative markers. (C) 2010 Elsevier Ireland Ltd. All rights reserved