Haruo Yamanouchi

Norepinephrine-producing tumors of bilateral breasts. A case report

There was a tumor in the left breast which was suspected to be carcinoid tumor at excisional biopsy. Autopsy revealed the same tumor in the right nipple. In the cells of the bilateral tumors a number of argylophil granules were diffusely demonstrated and the neurosecretory ones were verified electronmicroscopically. In the urine of the patient a moderate amount of norepinephrine was excreted. It was presumed that the norepinephrine might have been produced from the breasts. In the literature reviewed, the case of breast carcinoid has not been reported previously.

The effectiveness of postmortem multidetector computed tomography in the detection of fatal findings related to cause of non-traumatic death in the emergency department

AbstractObjectivesTo investigate the diagnostic performance of postmortem multidetector computed tomography (PMMDCT) for the detection of fatal findings related to causes of non-traumatic death in the emergency department (ED).Methods494 consecutive cases of clinically diagnosed non-traumatic death in ED involving PMMDCT were enrolled. The fatal findings were detected on PMMDCT and classified as definite or possible findings. These findings were confirmed by autopsy in 20 cases.ResultsThe fatal findings were detected in 188 subjects (38.1%) including 122 with definite (24.7%) and 66 with possible finding (13.4%). Definite findings included 21 cases of intracranial vascular lesions, 84 with intra-thoracic haemorrhage, 13 with retroperitoneal haemorrhage and one with oesophagogastric haemorrhage. In three patients who had initially been diagnosed with non-traumatic death, PMMDCT revealed fatal traumatic findings. Two definite findings (two haemopericardiums) and seven possible findings (two intestinal obstructions, one each of multiple liver tumours central pulmonary artery dilatation, pulmonary congestion, peritoneal haematoma, and brain oedema) were confirmed by autopsy. The causes of death were not determined in cases with possible findings without autopsy.ConclusionsPMMDCT is a feasible tool for detecting morphological fatal findings in non-traumatic death in ED. It is important to know the ability and limitation of PMMDCT.Key Points• Postmortem multi-detector CT (MDCT) can reveal the cause of non-traumatic death. • Postmortem MDCT is quick and can be widely available. • Postmortem MDCT is acceptable to those relatives who object to invasive autopsy. • MDCT cannot establish the cause of death in all patients.

Changes in aortic shape and diameters after death: Comparison of early postmortem computed tomography with antemortem computed tomography

PURPOSE The purpose of this study is to evaluate the postmortem deformation of the aorta on postmortem computed tomography (CT) by comparison with the antemortem CT in the same patient. MATERIALS AND METHODS A total of 58 non-traumatic patients without hemorrhagic events who underwent torso CT before and shortly after death were enrolled. Antemortem chest and abdominal CT were obtained in 44 cases and in 57 cases, respectively. The lengths of the major and minor axes of the ascending and descending thoracic aorta and the abdominal aorta were measured on both antemortem and postmortem CT in the same patient. To evaluate the shape of the aorta, the major axis-minor axis ratio (Ma-MiR) was calculated. Mean values of the diameters of the aorta and Ma-MiRs on postmortem CT were compared with those on antemortem CT using the Wilcoxon signed-rank test. We also evaluated the major and minor axes and Ma-MiRs on both antemortem and postmortem CT in two age groups: 65 years and under (n=13) and over 65 years (n=45). RESULTS At each level tested, the aorta significantly shrank after death (p<0.001) (ascending thoracic aorta, descending thoracic aorta, and abdominal aorta: 38.5 mm × 33.5 mm, 28.0 mm × 25.9 mm, and 24.4 mm × 21.8 mm on antemortem CT, 30.0 mm × 26.2 mm, 24.4 mm × 20.7 mm, and 21.5 mm × 14.5 mm on postmortem CT, respectively). The postmortem Ma-MiRs significantly increased at the descending thoracic aorta and the abdominal aorta (p<0.001). The diameters of the aorta are longer in older cases at all levels on both antemortem and postmortem CT. The reduction rates were larger in younger cases than older cases at all levels. CONCLUSIONS After death, the aorta shrunk at all levels, and became oval in shape in descending thoracic and abdominal aorta. The contraction was greater in younger cases than older cases. Investigators who interpret postmortem imaging should be aware of the postmortem deformation of the aorta.

Sex Typing of Forensic DNA Samples Using Male- and Female-Specific Probes

Forensic DNA samples have been examined to ascertain the feasibility of a sex-typing procedure that we have recently developed. This uses two sets of primers complementary to the DXZ4 and SRY genes for polymerase chain reaction (PCR). PCR target in the DXZ4, an 80-bp sequence within the 130-bp fragment specific to females, is generated from inactive chromosome X by the DNA digestion with a methylation-sensitive restriction enzyme, HpaII. Therefore, the DXZ4 amplification and subsequent agarose gel electrophoresis detect the 80-bp fragment from female DNA. On the other hand, the SRY probe identifies a male-specific sequence on chromosome Y. Testing DNAs from fresh Turners blood and from postmortem tissues exhibited band-signals confirming the sex identification. Degraded DNAs isolated from severely decomposed specimens were also identifiable when high-molecular-weight DNA was isolated before the assay. This demonstrates the usefulness of this method in forensic identification.

A novel dimorphism in the human SRY gene: usefulness in human migration studies.

Abstract A nucleotide polymorphism of C or T was detected at position 465 in the sex-determining region Y (SRY) gene. To evaluate the utility of this dimorphism in human population studies, the frequency and the frequency of the haplotype combined with the two polymorphic loci YAP and M9 were examined in a total of 130 unrelated Japanese and 130 unrelated German males. The T nucleotide was found in 24.6% (32/130) of the Japanese but not in any of the 130 German males. Accordingly, four of the eight possible combination haplotypes of SRY/YAP/M9 were identified in the Japanese population, but one of the four haplotypes comprising SRY(T) was absent in the German samples. This suggests that the C to T transition may be more recent than the YAP insertion or the M9 transversion and the change might have occurred in an ancestral Asian population. These results imply that the dimorphism at the SRY gene is one of the Y-linked markers useful for human population studies and also for ethnic identification of forensic samples.

A VNTR polymorphism in human 5′ H19 flanking regions in Japanese and German populations

In mammals, imprinted genes are preferentially expressed from either the maternal or paternal allele. Several recent observations show that DNA methylation plays an important role in the imprinted inheritance of the gene. Generally, an individual inherits two alleles together from his parents and the origin of each allele can be determined by typing the parents. The ultimate aim of this study is to detect a paternally or maternally derived allele from one person by using the methylation difference in the imprinted region. For the purpose, a useful probe within the region is requisite as the analytic target. In this study, the forensic utility of the VNTR locus, which is located approximately 7.6 kb upstream of the H19 gene that is maternally expressed, was evaluated. The human 5VH19 flanking sequence was searched from the DDBJ. The allele frequency of the VNTR locus was examined in a total of 199 unrelated Japanese and 171 unrelated German individuals. In the Japanese samples, 7 alleles and 22 genotypes were identified. The heterozygosity and polymorphism information content (PIC) were 0.749 and 0.669, respectively. By contrast, 9 alleles and 27 genotypes were detected in the German samples. The heterozygosity and PIC were 0.969 and 0.705, respectively. Thus, the frequency distribution of the two populations showed different profiles (Table 1). In a Japanese case study, this genetic typing was successfully applied to the personal identification of decomposed remains as a forensic sample. These results indicated that the VNTR in the H19-5Vflanking region is highly polymorphic and useful for personal identification of both Japanese and German DNA samples. This suggests the VNTR has become a useful probe for the aimed method.

FUSIFORM ANEURYSM OF BASILAR ARTERY ASSOCIATED WITH BILATERAL CHOROIDAL CYSTS

A case of large fusiform aneurysm of the basilar artery and bilateral choroidal cysts in the lateral ventricles is reported. The pathogenesis of the choroidal cysts is brieay discussed.