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Biomedical subjects

M Nata

Publications and source records attributed to M Nata.

At least 37 records · Page 2Linked to original sources

[Application of stochastical analysis to maternity testing without putative mother].

In a maternity test in which the putative mother was deceased, the cumulative probability of maternity (PM) was calculated at 0.822 from 24 genetic markers by the stochastical method. This PM may not be evaluated in the same way as that of usual paternity cases. We applied the same method to two families whose blood relationships were undoubted. We compared the PMs in the cases in which maternal genotypes were estimated and were defined. Also, we calculated the PMs in the case of real maternal relationship and false maternal one. The estimated PM from real maternity relationship was significantly higher than that from false maternal one.

ABO Blood-Group System↗

Laceration of the liver with delayed massive intra-abdominal hemorrhage: a case report of child abuse.

A 3-year-old girl was found unresponsive in the bedroom and expired at a hospital. Autopsy revealed massive intra-abdominal bleeding due to laceration of the liver and mesenterium with multiple rib fractures and multiple fresh and old bruises. The time of the assault causing the liver trauma was questioned because the perpetrator, her mother's boyfriend, denied any outrages on that particular day although he confessed that he had physically abused her for several months. Microscopically, numerous polymorph leucocytes infiltrated exclusively surrounding the lacerated area of the liver. Many hepatocytes were necrotic and cord arrangement of the parenchymal cells was destroyed. There should be a certain time lag between the major assault and massive intra-abdominal hemorrhage, which was not inconsistent with the statement of the perpetrator.

Abdominal Injuries↗

[Spreadsheets of a conventional application software for calculation of plausibility of paternity: application to parentage testing with highly polymorphic markers in deceased party].

We designed a spreadsheet package for the computation of plausibility of paternity, that can cope with highly polymorphic genetic markers and cases of deceased parties. The application program is Microsoft EXCEL, which is one of the best-selling spreadsheet software running on both Microsoft Windows and Macintosh OS. Komatsu's formula for paternity testing was mainly employed in the spreadsheet package. Probability of the mother-child-alleged father combination was calculated using "IF" function to compare the members' genotypes, whereas "VLOOKUP (or HLOOKUP)" function was employed to refer to a list of genes and their frequencies. In case of a phenotype consisting of several genotypes, the list of phenotypes versus genotypes was also given, to which the function referred. To extend these spreadsheets available for the test of deceased party, additional sheets were also created to estimate frequencies of alleged father's possible genotypes. These probabilities were calculated on the basis of types of his parents and siblings, those of his wife and their biological children, and those of both. This package would be cut out to compute the probability of paternity with extremely polymorphic loci with gentle user interface. Calculation time is satisfactorily short, although it requires considerably large disk space in some extremely complicated cases. Japanese version of this package is freely available at anonymous FTP site of the Department of Forensic Medicine, Tohoku University School of Medicine.

Female↗

IGF2 but not H19 shows loss of imprinting in human glioma.

Genomic imprinting is a gamete-specific modification resulting in the allele-specific expression of genes in somatic cells. A loss of imprinting (LOI) has been found in many embryonal and adult tumors, suggesting that it plays a role in tumor development. The incidence of LOI, however, does not seem to be ubiquitous among tumors because neuroblastoma and colorectal cancer revealed no LOI. We examined the involvement of LOI of IGF2 and H19 genes in human gliomas. The two genes were imprinted in normal brain subcortex tissues. In glioma, 8 of 14 informative cases (57%) revealed LOI in IGF2. The frequency did not depend on the tumor grade. For H19, in contrast, all 13 informative cases maintained imprinting. These results suggest that LOI of IGF2 but not H19 plays a role in the development of human glioma.

Adult↗

Alterations of c-fos gene methylation in the processes of aging and tumorigenesis in human liver.

The state of DNA methylation in the c-fos gene was examined in human livers of different ages, cirrhosis and hepatocellular carcinoma. The degree of methylation in the intron 1 to exon 4 region increased with age, whereas all of the 10 cirrhosis samples revealed a decrease in methylation when compared to normal livers of similar ages. The 11 hepatocellular carcinomas showed varied alterations suggesting that the alteration of the c-fos gene methylation is related to aging as well as to early-step of hepatocarcinogenesis.

Adolescent↗

Alteration of c-fos gene methylation in human gliomas.

In an attempt to find a common DNA alteration occurring in human glioma, we examined DNA methylation in 34 gliomas of various pathological grades and compared them with those in normal cerebral subcortex DNA. The total methylated cytosine levels in the genome did not differ appreciably between the tumors and the normal tissues; however, the degree of DNA methylation in several proto-oncogenes and suppressor oncogenes showed some alterations. Among them, the c-fos gene demonstrated deviation from that of normal tissues in all cases examined, suggesting that the alteration of c-fos gene methylation plays a role in the early steps of human glioma development.

Adult↗

Sudden unexpected death in childhood due to eosinophilic myocarditis.

A 12-year-old boy with no previous serious medical history experienced abdominal discomfort and chest pains for 5 days and suddenly died. The autopsy revealed diffuse and extensive infiltration of eosinophils into the myocardium, with poorly formed granulomas and few fibrotic changes. The necrotic changes was so extensive that Charcot-Leyden crystals formed. The other visceral organs had no specific pathologic changes except for mild lymphocytic infiltration with an increase in goblet cells in the bronchial areas and eosinocytosis in the blood vessels. An initial viral infection seemed to have caused subsequent eosinophil activation due to an allergic condition. Eosinophilic myocarditis is a rare cause of sudden death in apparently healthy children. Cardiac toxicity of eosinophils is, however, well established and dominates the ultimate prognosis of patients with complicated eosinophilia.

Child↗

Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY.

OBJECTIVE: To investigate the mechanism of the formation of a tetragametic chimera with true hermaphroditism (46,XX/46,XY). DESIGN: Molecular biologic analyses. SETTING: Outpatient clinic and laboratories of a university hospital. SUBJECTS: A true hermaphrodite with 46,XX/46,XY and the parents. MAIN OUTCOME ANALYSIS: Restriction fragment length polymorphism (RFLP) of the pseudoautosomal region on sex chromosomes. RESULTS: Whereas a normal diploid individual showed two bands, the true hermaphrodite showed four bands in the RFLP analyses. Evaluation of the molecular weights of the bands revealed two of them to be of maternal origin and the other two to be of paternal origin. CONCLUSION: The two cell lineages composing the true hermaphrodite are heterogeneous because those originated from the fertilization of two genetically different maternal haploid cells by two different spermatozoa.

ABO Blood-Group System↗

Monoclonal antibody against an amniotic protein carrying ABH blood group epitopes and its forensic application.

A mouse monoclonal antibody against an amniotic protein carrying ABH antigenic epitopes was established. BALB/c mice were immunized by an amniotic protein of molecular weight over 200 kDa, which had proved to be the carrier protein of ABH blood group epitopes by analysis with SDS-PAGE and immunoblotting. The antibody, ASP-1, was directed to the amniotic carrier protein without affecting the ABH blood group antigenicity, and did not cross-react with other body fluids which included blood, saliva, semen, urine or vaginal secretion. The immunoglobulin class of ASP-1 was IgG1 with a titer of 1 : 1,600. ASP-1 was used to detect the ABH blood group of amniotic fluid by the sandwich ELISA in which wells of plates were coated with ASP-1, and the ABH blood group of the captured protein was detected with mouse IgM anti-A and -B antibodies and enzyme conjugated anti-mouse IgM. The sandwich ELISA could successfully detect the blood group of amniotic fluid in mixed body fluids.

ABO Blood-Group System↗

Prenatal paternity testing with DNA analyses.

Two PCR amplified loci and 3 single locus DNA probes were applied in a paternity case in which a married woman became pregnant after being raped. DNA analysis were performed using samples from the woman, her husband and amniotic fluid cells taken during the 16th week of pregnancy. The combined probability of paternity for her husband was calculated as 0.999997107. The application of PCR analyses and single locus DNA probes were considered to be extremely informative in prenatal paternity testing.

Amniotic Fluid↗

[Two unusual cases of half-sibling test with DNA polymorphism].

In usual paternity cases, the putative man and the mother-child couple are alive. However, there are some cases in which putative man and mother were deceased and only children were available for analyses. It is difficult to determine the presence or absence of half-sibling relationship from analyses of conventional blood group markers (CBGM). In this study, five kinds of single locus DNA probes were applied to 2 half-sibling cases. To decide usefulness of single locus DNA probes, we defined likelihood ratio of half-sibling (LRHS) based on the likelihood ratio of paternity (LRP) and also investigated the distribution curves of log10 LRHS in cases of unrelated combinations and half-sibling combinations. Distribution curves of log10 LRHS from DNA analyses in the cases of unrelated combinations and half-sibling combinations is more clearly separated than from CBGM. Single locus DNA probes are considered to be more informative for half-sibling cases.

Blood Group Antigens↗

Suppression of ischemia-reperfusion injury by liposomal superoxide dismutase in rats subjected to tourniquet shock.

To investigate the role of oxygen-derived free radicals in the pathogenesis of tourniquet shock, the authors present an experimental animal model. Two groups of rats were fastened with rubber tubes on both thighs (1.5 kg/cm2) for 6 h under pentobarbital anaesthesia. One group was administered liposomal superoxide dismutase (L-SOD 30,000 U/kg body weight), and the other liposome as a control 3 h prior to tourniquet removal. No rats in the control group (n = 20) survived more than 24 h after reperfusion, whereas 55% of animals treated with L-SOD (n = 20) survived for 24 h or more, and two recovered completely (P less than 0.005). Blood samples were obtained from the abdominal aorta after laparotomy of anaesthetized rats of both groups at different time intervals. Changes in the hematocrit value and blood urea nitrogen during the early periods after reperfusion were attenuated by prior administration of L-SOD, and the total plasma SOD activity of the control animals decreased promptly and continuously throughout the experimental period. This experimental model was very useful to study the pathogenesis of tourniquet shock with respect to reproducibility, induction of the shock stages and mortality. It is thought that oxygen-free radicals are involved in the induction of tourniquet shock, and L-SOD was, to a certain extent, effective against reperfusion injury in the early stages of shock.

Alanine Transaminase↗

Blood grouping of minute samples using monoclonal anti-A,B antibody.

The availability of a monoclonal anti-A,B antibody (AB-E6E2) for blood grouping of blood and saliva stains was investigated. The antibody, which was reacted with A, B and AB antigens but not with O antigen, was produced from BALB/c mouse-mouse hybridoma raised to group AB red blood cells. AB-E6E2 had heat-elutability enough to detect ABO antigens in blood and saliva stains by absorption-elution test, whereas it had extremely weak double combining potency in mixed agglutination test. Application of elution-ELISA method will enable the detection of smaller amount of ABH antigens. The antibody, therefore, would be useful to segregate group O minute samples from the other blood group ones.

ABO Blood-Group System↗

Application of single-locus hypervariable region DNA probes to deficiency cases in paternity testing.

Seven DNA probes which recognize single-locus hypervariable region (HVR) were applied to a paternity test in which the putative father and his wife were deceased. Three legitimate children, an illegitimate child and her mother were available for analysis. The cumulative paternity index of the illegitimate child derived from 15 conventional blood group markers was 18.71 and from 7 DNA probes 92,572.08, that is, 4,948 times higher than the former. Thus the DNA analyses gave nearly conclusive evidence that the putative father was the biological father of the child. The application of highly discriminating polymorphisms of DNA which recognize single HVR loci is considered to be extremely informative in cases of disputed parentage.

Child↗

[Paternity test with single locus DNA probes].

Seven kinds of DNA probes recognizing hypervariable DNA loci were applied to 28 cases of paternity test, involving two cases in which the putative fathers had died. The combinations of probe and restriction enzyme are as follows; MR24/1-HinfI, 3'Globin-PvuII, Ha-ras-PvuII, Mucin-PvuII, D2S44 (pYNH24)-MspI, D17S30 (pYNZ22)-MspI, D1S57 (pYNZ2)-RsaI. The reported number of the alleles are 37, 39, 5, 10, 33, 15, and 5, respectively. Those probes lie on different chromosomes except D1S57 on 1p and Mucin on 1q21. Exclusion probability (EP) and paternity index (PI) were calculated from the allele frequencies in Japanese population reported by Yokoi et al. Cumulative EP from 7 DNA probes was 0.999932, and cumulative PI ranged from 7.3 X 10(6) to 947. Also, cumulative EP from 17 kinds of conventional blood group markers (CBGM) was 0.9776, and cumulative PI ranged from 1290 to 0.11. Total EP from 7 DNA probes and CBGM was 0.999998478. Cumulative PI from 7 DNA probes were 5 to 2,000,000 times higher than that from CBGM. The single locus hypervariable DNA polymorphisms are considered to be informative for paternity test.

DNA Probes↗

Hypervariable polymorphic VNTR loci for parentage testing and individual identification.

Three kinds of variable number of tandem repeat DNA probes (VNTR: pYNZ22, pYNH24, and pYNZ2) showing hypervariable polymorphisms were studied. Allelic frequencies and their confidence intervals among Japanese individuals were obtained. Co-dominant segregation of the polymorphism was confirmed in family studies. Two a priori probabilities were calculated for each VNTR locus: exclusion probabilities for an alleged father/mother/child trio and for an alleged parent/child duo, and probabilities of matching of genotyped two unrelated individuals or two siblings. Availability as well as highly discriminating polymorphic pattern of VNTR loci makes it potentially very useful for forensic and human genetic purposes.

Alleles↗

Investigation of paternity establishing without the putative father using hypervariable DNA probes.

Seven kinds of DNA probes which recognize hypervariable loci were applied for paternity test. The putative father was decreased and unavailable for the test. The two legitimate children and their mother (the deceased's wife) and the four illegitimate children and their mother (the deceased's kept mistress) were available for analysis. Paternity index of four illegitimate child was investigated. Allelic frequencies and their confidence intervals among unrelated Japanese individuals were previously reported from our laboratory, and co-dominant segregation of the polymorphism was confirmed in family studies. Cumulative paternity indices of four illegitimate children from 16 kinds of standard blood group markers were 165, 42, 0.09, and 36, respectively. On the other hand, cumulative paternity indices from 7 kinds of DNA probes are 2,363, 4,685, 57,678, and 54,994, respectively, which are 14, 113, 640, 864, and 1,509 times higher than that from standard blood group markers. The DNA analyses gave nearly conclusive evidence that the putative father was the biological father of the children. Especially, the paternity relation of the third illegitimate child could not be established without the DNA analyses. Accordingly, DNA polymorphism is considered to be informative enough for paternity test.

DNA↗