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1.
Nucleic Acids Res ; 38(12): 3880-90, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20194112

RESUMO

DNA methylation is an epigenetic modification that plays an important role in gene regulation. It can be influenced by stochastic events, environmental factors and developmental programs. However, little is known about the natural variation of gene-specific methylation patterns. In this study, we performed quantitative methylation analyses of six differentially methylated imprinted genes (H19, MEG3, LIT1, NESP55, PEG3 and SNRPN), one hypermethylated pluripotency gene (OCT4) and one hypomethylated tumor suppressor gene (APC) in chorionic villus, fetal and adult cortex, and adult blood samples. Both average methylation level and range of methylation variation depended on the gene locus, tissue type and/or developmental stage. We found considerable variability of functionally important methylation patterns among unrelated healthy individuals and a trend toward more similar methylation levels in monozygotic twins than in dizygotic twins. Imprinted genes showed relatively little methylation changes associated with aging in individuals who are >25 years. The relative differences in methylation among neighboring CpGs in the generally hypomethylated APC promoter may not only reflect stochastic fluctuations but also depend on the tissue type. Our results are consistent with the view that most methylation variation may arise after fertilization, leading to epigenetic mosaicism.


Assuntos
Metilação de DNA , Epigênese Genética , Fatores Etários , Ilhas de CpG , Genes Supressores de Tumor , Variação Genética , Impressão Genômica , Crescimento e Desenvolvimento/genética , Humanos , Masculino , Gêmeos Dizigóticos , Gêmeos Monozigóticos
2.
Leg Med (Tokyo) ; 6(3): 194-6, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15231292

RESUMO

A young man was shot dead on the street by police officers. The results of the investigation indicated that the use of firearms had been provoked with suicidal intent by the victim. A 25 year old man intruded with his car into a row of six police vehicles that was in the midst of an operation. Upon stopping at a traffic light he left his vehicle and pulled out a weapon which was later determined to have been a blank cartridge pistol. He took aim at the officers in the following vehicle from a distance of not more than 2 m. Despite repeated orders to put down the weapon, the man did not comply. Thus, as a result of the presumed threatening situation in which four officers were involved, several shots fell that were fatal for the individual. In the postmortem examination the cause of death was determined to be haemorrhagic shock due to penetration of the aorta by a projectile. On the basis of the results of the investigation a particular form of suicide was presumed since a depressive disorder in some form had been present. The man had expressed suicidal thoughts several times and had taken conspicuous leave of his wife on the day of the incident.


Assuntos
Armas de Fogo , Homicídio , Polícia , Suicídio/psicologia , Ferimentos por Arma de Fogo , Adulto , Aorta/lesões , Autopsia , Comportamento Perigoso , Transtorno Depressivo/psicologia , Humanos , Masculino
3.
Arch Kriminol ; 213(3-4): 102-7, 2004.
Artigo em Alemão | MEDLINE | ID: mdl-15137631

RESUMO

The article describes the case of a 29-year-old woman who was found dead in her apartment on a bar stool with the body being maximally retroflected in the lumbar region, the head hanging down and the feet and hands barely touching the floor. On external inspection of the body the cuff-like distribution of hypostasis on the forearms and lower legs was consistent with the position in which the body was found. There were no signs of foreign intervention. At autopsy massive congestion was found in the internal organs as well as pulmonary and cerebral edema. In the ventral region of the lumbar intervertebral discs superficial hemorrhages were detected. The alcohol content was 3.40 per thousand in the blood and 4.43 per thousand in the urine. As the essential pathogenetic mechanisms responsible for death reduced venous reflux to the heart in combination with postural asphyxia and the influence of alcohol are discussed.


Assuntos
Intoxicação Alcoólica/sangue , Intoxicação Alcoólica/complicações , Asfixia/diagnóstico , Asfixia/etiologia , Decúbito Inclinado com Rebaixamento da Cabeça/efeitos adversos , Postura , Acidentes/mortalidade , Adulto , Asfixia/sangue , Asfixia/mortalidade , Feminino , Medicina Legal , Humanos
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