Abstract:
:In certain circumstances, tumour tissue specimens are the only DNA resource available for forensic DNA analysis. However, cancer tissues can show microsatellite instability and loss of heterozygosity which, if concerning the short tandem repeats (STRs) used in the forensic field, can cause misinterpretation of the results. Moreover, though formalin-fixed paraffin-embedded tissues (FFPET) represent a large resource for these analyses, the quality of the DNA obtained from this kind of specimen can be an important limit. In this study, we evaluated the use of tumoural tissue as biological material for the determination of genetic profiles in the forensic field, highlighting which STR polymorphisms are more susceptible to tumour genetic alterations and which of the analysed tumours show a higher genetic variability. The analyses were conducted on samples of the same tissues conserved in different storage conditions, to compare genetic profiles obtained by frozen tissues and formalin-fixed paraffin-embedded tissues. The importance of this study is due to the large number of specimens analysed (122), the large number of polymorphisms analysed for each specimen (39), and the possibility to compare, many years after storage, the same tissue frozen and formalin-fixed paraffin-embedded. In the comparison between the genetic profiles of frozen tumour tissues and FFPET, the same genetic alterations have been reported in both kinds of specimens. However, FFPET showed new alterations. We conclude that the use of FFPET requires greater attention than frozen tissues in the results interpretation and great care in both pre-extraction and extraction processes.
journal_name
Int J Legal Medjournal_title
International journal of legal medicineauthors
Ananian V,Tozzo P,Ponzano E,Nitti D,Rodriguez D,Caenazzo Ldoi
10.1007/s00414-010-0443-7subject
Has Abstractpub_date
2011-05-01 00:00:00pages
327-32issue
3eissn
0937-9827issn
1437-1596journal_volume
125pub_type
杂志文章abstract:BACKGROUND:Postmortem interrogation of cardiac implantable electrical devices (CIED) in autopsy is not routinely performed. Thus, it remains unclear whether an interrogation might clarify time and cause of death. METHODS:Seventy of 4401 patients (1.6%) undergoing autopsy in 2014 and 2015 presented with a CIED. The exp...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-018-1932-3
更新日期:2019-05-01 00:00:00
abstract::Evaluation of the radiographic visibility of root pulp in mandibular third molars has been suggested as an alternative method for estimation of legal age threshold in living individuals when the root apices are mature. Here, we assessed the accuracy of this method for age thresholds of 18 and 21 years. A sample of 463...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-019-02036-x
更新日期:2019-09-01 00:00:00
abstract::Severe cold stress has been shown to cause changes in the expression and secretion of thrombomodulin (TM), an endothelial protein regulating haemostasis and inflammation. To further evaluate TM as a cold stress indicator, relative TM mRNA and TM protein levels in the myocardium and the concentrations of TM in serum an...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-014-1138-2
更新日期:2015-03-01 00:00:00
abstract::BamHI polymorphism at the VNTR locus D2S44 was investigated, concentrating on band frequencies, mutation rate and confirmation of Mendelian inheritance. In this series 39 restriction fragments showing frequencies less than 10% could clearly be distinguished. No mutations could be observed and the Mendelian character o...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/BF01816481
更新日期:1990-12-01 00:00:00
abstract::Historically, radiographical identification has been done by comparing conventional antemortem and postmortem X-ray images. The advent of new technologies such as multislice computed tomography (MSCT) is making traditional antemortem examination increasingly less frequent. The authors present the results of MSCT study...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-007-0200-8
更新日期:2007-11-01 00:00:00
abstract::The accuracy of most age determination methods in adults is unsatisfactory and therefore more precise methods are required. Teeth provide several useful points about an individuals age. With advancing age secondary dentine is deposited along the wall of the dental pulp chamber leading to a reduction in the size of the...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-004-0492-x
更新日期:2005-01-01 00:00:00
abstract::Article 25 of the Charter of Fundamental Rights of the European Union (adopted in Nice on 7 December 2000) recognizes and respects the rights of older people to lead a life of dignity and independence and to participate in social and cultural life. It also highlights the importance of prevention and recognition of eld...
journal_title:International journal of legal medicine
pub_type: 杂志文章,实务指引
doi:10.1007/s00414-018-1880-y
更新日期:2019-01-01 00:00:00
abstract::The purpose of the present research is to study the radiographic visibility of the periodontal ligament in third molars from a northern Chinese population to determine if this methodology could be used for the 18-year threshold. A total of 1300 conventional orthopantomograms from 650 males and 650 females of northern ...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-017-1664-9
更新日期:2018-03-01 00:00:00
abstract::A method has been developed for the simultaneous determination of lysergic acid diethylamide (LSD), its epimer iso-LSD, and its main metabolites nor-LSD and 2-oxo-3-hydroxy LSD in blood, urine, and, for the first time, vitreous humor samples. The method is based on liquid/liquid extraction and liquid chromatography-mu...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-006-0078-x
更新日期:2007-07-01 00:00:00
abstract::In order to establish a reliable age indicator in the period when all other epiphyseal age indicators have already been inactivated, medial clavicle as the bone with the longest period of growth became the object of various investigations. However, the lack of population-specific method often made it unreliable in som...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-012-0791-6
更新日期:2013-05-01 00:00:00
abstract::During forensic investigations, it is often important to be able to distinguish between impact spatter patterns (blood from gunshots, explosives, blunt force trauma and/or machinery accidents) and bloodstain patterns generated by expiration (blood from the mouth, nose or lungs). These patterns can be difficult to dist...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-010-0498-5
更新日期:2011-11-01 00:00:00
abstract::The sudden infant death syndrome (SIDS) is at present based on unknown pathogenetical mechanisms but in industrial nations is the most common cause of death in infancy after the perinatal period. Studies of a large number of adrenal glands in this syndrome have not been reported. Therefore, we evaluated 146 SIDS cases...
journal_title:International journal of legal medicine
pub_type: 杂志文章,多中心研究
doi:10.1007/BF01225413
更新日期:1994-01-01 00:00:00
abstract::In this study, we assessed 30 insertion-deletion polymorphisms (Indels) (Investigator DIPplex® kit) in four Chinese populations (n = 952) and evaluated their usefulness in forensic genetic applications. After the Bonferroni correction at a 95 % significance level (p = 0.0017), there were no deviations from the Hardy-W...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-014-1091-0
更新日期:2015-01-01 00:00:00
abstract::Blank cartridge guns are generally regarded as being harmless and are not considered to be firearms in most countries. A comparison of the legal situations in Germany and Austria concerning weapons is given. There have been several reports of serious injuries and even fatalities due to these weapons. Ballistic experim...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s004140050156
更新日期:1998-01-01 00:00:00
abstract::The purpose of this investigation was to determine the cause of death of a 13-year-old girl, where none was immediately evident. Our analysis showed it to be a very unusual case of a drug-facilitated sexual assault (DFSA), which led to the tragic death of the young rape victim and then to the suicide of the rapist. Th...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-005-0020-7
更新日期:2006-07-01 00:00:00
abstract::In forensic pathology routine, fatal cases of contrast agent exposure can be occasionally encountered. In such situations, beyond the difficulties inherent in establishing the cause of death due to nonspecific or absent autopsy and histology findings as well as limited laboratory investigations, pathologists may face ...
journal_title:International journal of legal medicine
pub_type: 杂志文章,评审
doi:10.1007/s00414-013-0912-x
更新日期:2014-01-01 00:00:00
abstract::In Japan and elsewhere, ABO genotyping is frequently used in forensic practice for identification of a decomposed body. However, the phenotype deduced from the genotyping data is occasionally inconsistent with the real phenotype. In this paper, we report a simple ABO genotyping method in which five single nucleotide p...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-006-0148-0
更新日期:2008-01-01 00:00:00
abstract::The population origin of an individual is often requested to be determined from specimens left at a crime scene for identifying a suspect and individual identity. The melanocortin 1 receptor gene (MC1R) and P gene are associated with human pigmentation. Although several studies have reported that these genes are highl...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-008-0289-4
更新日期:2009-05-01 00:00:00
abstract::Finding spermatozoa is of the utmost importance in judicial cases involving both the living and the dead; however, most of literature actually deals with inner genitalia and does not take into consideration the chance of external deposition of semen on skin, which is not rare. In addition, the most advanced microscopi...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-013-0817-8
更新日期:2013-09-01 00:00:00
abstract::In many countries, assessment of legal age, also known as age of majority, has become increasingly important over the years. In China, individuals older than 18 years of age have full capacity regarding civil conduct and can be tried as an adult for criminal charges. Therefore, from a legal point of view, it is crucia...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-018-1907-4
更新日期:2018-11-01 00:00:00
abstract::A population database was generated from 118 unrelated Caucasoid individuals living in Spain. Sequence polymorphisms of the mitochondrial DNA (mtDNA) control region, hypervariable regions I and II (HVRI and HVRII) were determined using the polymerase chain reaction (PCR) and direct sequencing. A total of 102 different...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s004140000158
更新日期:2000-01-01 00:00:00
abstract::Expert witness opinion based on the comparison of images has been accepted by UK courts as admissible evidence in relation to issues of identity. Within images of the hand are a multiplicity of anatomical features of different aetiology, incidence and distribution patterns and this includes melanocytic nevi, referred ...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-013-0821-z
更新日期:2014-05-01 00:00:00
abstract::The case concerns the sudden death of a 21-year-old male during a soccer game. The autopsy revealed large, calcified saccular aneurysms at the origins of both the left anterior descending and the right coronary arteries. Histologically, the wall of the aneurysms was thin and composed of an internal fibro-calcified lay...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s004140050213
更新日期:1999-01-01 00:00:00
abstract::Diagnosis of ischaemia-related sudden cardiac death in the absence of microscopic and macroscopic ischaemic lesions remains a challenge for medical examiners. Medical imaging techniques increasingly provide support in post-mortem examinations by detecting and documenting internal findings prior to autopsy. Previous st...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-019-02211-0
更新日期:2020-03-01 00:00:00
abstract::Allele frequencies for four short tandem repeat loci were determined in a population sample from Catalonia (NE Spain). After denaturing PAGE electrophoresis, 8 alleles were identified for D3S1358 (n=201), 10 alleles for D8S1179 (n=198), 13 alleles for D18S51 (n=197) and 11 alleles for D19S253 (n=201). No deviation fro...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s004140050205
更新日期:1998-01-01 00:00:00
abstract::Pharyngeal smears and paraffin-embedded tissue specimens (skeletal muscle, kidney) obtained from 10 male and 10 female individuals were evaluated using non-isotopic in situ hybridization (NISH) with commercial X- and Y-specific biotinylated probes which recognize the pericentromeric regions DXZ1 and DYZ1/DYZ3 of the X...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/BF01225497
更新日期:1994-01-01 00:00:00
abstract:PURPOSE:The aim of this multi-reader feasibility study was to evaluate new post-processing CT imaging tools in rib fracture assessment of forensic cases by analyzing detection time and diagnostic accuracy. MATERIALS AND METHODS:Thirty autopsy cases (20 with and 10 without rib fractures in autopsy) were randomly select...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-016-1412-6
更新日期:2017-03-01 00:00:00
abstract::Organophosphorus insecticides, such as parathion-ethyl, quinalphos, chlorpyrifos, chlorfenvinphos or diazinon, are still widely used for pest control on crops. These compounds are extremely toxic to humans, and, even though specific legislation exists that controls the use of these substances, the frequency of toxic a...
journal_title:International journal of legal medicine
pub_type: 杂志文章,评审
doi:10.1007/s00414-019-02119-9
更新日期:2019-11-01 00:00:00
abstract::Messenger RNA (mRNA) markers have been extensively investigated for the identification of forensically relevant body fluids and tissues based on their expression profiles among cell types. As products of the backsplicing of pre-mRNAs, circular RNAs (circRNAs) share exonic sequences with their linear counterparts. The ...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s00414-019-02027-y
更新日期:2019-09-01 00:00:00
abstract::A study of the genetic variability in the Chueta (Majorcan Jews) and the Balearic (Majorca and Minorca Islands) populations was carried out using a multiplex system containing the nine tetrameric STRs D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820. The Chueta population has remained isolated be...
journal_title:International journal of legal medicine
pub_type: 杂志文章
doi:10.1007/s004149900101
更新日期:2000-01-01 00:00:00