Abstract：
:Sudden infant death syndrome (SIDS) is a multifactorial syndrome and assumingly, among other mechanisms, a deficit in respiratory control leads to a failure of arousal and autoresuscitation when the child is challenged by a stressful homeostatic event, e.g., hypoxia. We hypothesize that genetic polymorphisms involved in respiratory control mediated in the medulla oblongata contribute to SIDS. Therefore, a total of 366 SIDS cases and 421 controls were genotyped for 48 SNPs in 41 candidate genes. Genotyping was performed using Fluidigm nanofluidic technology. Results were obtained for 356 SIDS and 406 controls and 38 SNPs. After correction for multiple testing, one SNP retained a nominally significant association with seasonal SIDS: rs1801030 in the phenol sulfotransferase 1A1 gene (subgroup: death occurring during summer). A borderline association could be also observed for rs563649 in the opioid receptor μ1 gene in a recessive model (subgroup: death occurring during autumn). As a conclusion, although these data suggest two SNPs to be associated with different subgroups of SIDS cases, none of them can fully explain the SIDS condition, consistent with its multifactorial etiology. Given the great complexity of respiratory control and our initial findings reported here, we believe it is worthwhile to further investigate genes involved in the respiratory system.
journal_name
Int J Legal Medjournal_title
International journal of legal medicineauthors
Läer K,Dörk T,Vennemann M,Rothämel T,Klintschar Mdoi
10.1007/s00414-015-1232-0subject
Has Abstractpub_date
2015-09-01 00:00:00pages
977-84issue
5eissn
0937-9827issn
1437-1596journal_volume
129pub_type
杂志文章abstract：:Thyroid hormones are sometimes used for purposes for which they are not approved. Reasons for off-label use can be overweight, prevailing depressive mood, or various somatic symptoms. Information about the intake of thyroid hormones in order to lose weight can be easily obtained from inappropriate/nonmedical websites....
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-010-0423-y
更新日期：2010-11-01 00:00:00
abstract：:The assessment of age at death for identification purposes is a frequent and tough challenge for forensic pathologists and anthropologists. Too frequently, visual assessment of age is performed on well-preserved corpses, a method considered subjective and full of pitfalls, but whose level of inadequacy no one has yet ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-014-1042-9
更新日期：2015-07-01 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：:We present a single case report illustrating the diagnostic role of multi-slice computed tomography (MSCT) in the investigation of suspicious child death where mechanical asphyxia is suspected. The case illustrates how radiological findings that may not be observable on conventional plain X-ray were identified by post...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-010-0438-4
更新日期：2010-11-01 00:00:00
abstract：:Allele frequencies of 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA) were determined in a sample of 163 unrelated individuals from the Republic of Macedonia. AmpFISTR Identifiler Kit (Applied Biosystems) was used for PCR amplificatio...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-005-0025-2
更新日期：2006-01-01 00:00:00
abstract：:We investigated the polymorphism of five X-chromosomal short tandem repeat markers (ChrX STRs) loci (DXS7132, DXS981, DXS6803, DXS6809, and DXS6789) and their value for forensic applications. A fluorescent multiplex polymerase chain reaction (PCR) for amplifying five ChrX STRs loci in the same PCR reaction was set up....
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-008-0223-9
更新日期：2008-05-01 00:00:00
abstract：:Y-chromosomal short tandem repeats (Y-STRs) are commonly used to study population histories, discover ancestral relationships, and identify males for criminal justice purposes. Y-STRs being largely in forensic use have low haplotype diversity in some populations and cannot discriminate between paternal male relatives....
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-018-01997-9
更新日期：2019-05-01 00:00:00
abstract：:An 89-year-old woman was found dead lying in her bed. Autopsy demonstrated a pronounced thickening of all coronary arteries except for the first 2-4 cm. Death was due to a recent myocardial infarction. Microscopically, the coronary arteries showed a substantial concentric thickening of all three layers with 90% narrow...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-006-0090-1
更新日期：2006-11-01 00:00:00
abstract：:Allele frequency distributions for 15 tetrameric short tandem repeat (STR) loci were determined using the AmpFlSTR® Identifiler Plus™ PCR amplification kit. There was little evidence of departures from Hardy-Weinberg equilibrium or association of alleles of different loci in the population samples. The probability of ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-013-0898-4
更新日期：2014-03-01 00:00:00
abstract：:The craniofacial superimposition technique is still an important way of identifying skulls when there is no reference sample for a forensic DNA analysis, when DNA typing from remaining tissue samples has failed, or when antemortem dental records are not available. Through the widespread use of digital photography, the...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-010-0494-9
更新日期：2010-09-01 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：:To increase the reliability of forensic age estimations in living adolescents and young adults where there is no legitimation for X-ray examinations, it would be desirable to establish radiation-free imaging methods. In the present study, the ossification stage of the distal femoral epiphysis was determined retrospect...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-014-0967-3
更新日期：2014-05-01 00:00:00
abstract：:The Ion AmpliSeq™ HID single nucleotide polymorphism (SNP) panel, a primer pool of 103 autosomal SNPs and 33 Y-SNPs, was evaluated using the Ion 314™ Chip on the Ion PGM™ Sequencer with four DNA samples. The study focused on the sequencing of DNA at three different initial target quantities, related interpretation iss...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-013-0879-7
更新日期：2013-11-01 00:00:00
abstract：:2-Amino-5-chloropyridine (ACP) is a degradation product of zopiclone (ZOP) and its two main metabolites N-desmethylzopiclone (NDZOP) and zopiclone N-oxide (ZOPNO). ACP may be formed when specimens are stored. ZOP instability in blood makes interpretation of concentrations difficult especially in cases of prolonged sam...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-014-1049-2
更新日期：2015-03-01 00:00:00
abstract：:This study reports mtDNA polymorphisms in both hypervariable segments HV1 and HV2 of the non coding D-loop region from 60 unrelated Koreans. In contrast to two previous Korean data base studies, mtDNA was extracted separately from pulp tissue and root dentin of teeth obtained from dentists. Dentin turned out to be a r...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140050177
更新日期：1998-01-01 00:00:00
abstract：:We present the case of a 3.5-year-old boy with sudden anal blood loss at school. Sexual abuse was suspected, and, apart from anal fissures seen on sigmoidoscopy, no other clinical signs of any sort of disorder were present. As no medical explanation for the blood loss could be given, penetrating anal trauma was sugges...
journal_title：International journal of legal medicine
pub_type： 杂志文章,评审
doi：10.1007/s00414-005-0053-y
更新日期：2007-01-01 00:00:00
abstract：:Bee and wasp stings represent an uncommon cause of death. In a retrospective study of all fatalities due to venomous animals in Sweden during a 10-year-period, we found 19 fatalities due to wasps, 1 due to bees but none due to snake bite. This gives an annual incidence of 0.2 per million inhabitants. Most of the decea...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01626039
更新日期：1991-03-01 00:00:00
abstract：:The level of exposure or concealment of a cadaver is known to have an important impact on insect colonisation and decomposition but has been the subject of few investigations. In the present study, 30 pig carcasses were stored in three different types of containers (suitcases, trashcans and drums) with different level...
journal_title：International journal of legal medicine
pub_type：
doi：10.1007/s00414-019-02089-y
更新日期：2019-09-01 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：:The 5 tetranucleotide short tandem repeats, HUMTH01, HUMVWA31/A, HUMF13A1, HUMFES/FPS and HUMLPL were studied using different electrophoretic methods and PCR amplification conditions in order to optimize the typing conditions. A genetic population study in the population of Galicia was carried out and the allele and g...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01246874
更新日期：1995-01-01 00:00:00
abstract：:Mitragyna speciosa (Rubiaceae), commonly known as kratom, is a tropical tree with a long history of traditional use in parts of Africa and Southeast Asia. In recent years, kratom has gained popularity for use as a recreational drug across the globe. Relatively new to the illicit market and used in a manner different f...
journal_title：International journal of legal medicine
pub_type： 杂志文章,评审
doi：10.1007/s00414-015-1279-y
更新日期：2016-01-01 00:00:00
abstract：:Species identification from hair has been performed in the past by several techniques, such as scanning electron microscopy and polymerase chain reaction. Despite the great promise of mass spectrometry herein, the repetitive glycine stretches and the evolutionary conserved sequences of keratins make the results from c...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-014-1008-y
更新日期：2014-09-01 00:00:00
abstract：:A 28-year-old man was shot in the back of the head at close range by a robber who then locked him in a room assuming that he was dead. The man was discovered 2 days later. The entrance wound of the bullet was in the left occipital region and it passed into the periphery of the right temporal lobe, where it lodged. The...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004149900120
更新日期：2000-01-01 00:00:00
abstract：:We developed two multiplex systems for the coamplification of X-chromosomal short tandem repeats (STRs). X-Multiplex 1 consisted of DXS6807, DXS6800, DXS7424, DXS101, GATA172D05 and HPRTB and X-Multiplex 2 consisted of DXS8378, DXS9898, DXS6801, DXS6809, DXS6789, DXS7133, DXS8377 and DXS7423. In addition, we present a...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-011-0629-7
更新日期：2012-03-01 00:00:00
abstract：:When a forensic DNA sample cannot be associated directly with a previously genotyped reference sample by standard short tandem repeat profiling, the investigation required for identifying perpetrators, victims, or missing persons can be both costly and time consuming. Here, we describe the outcome of a collaborative s...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-012-0788-1
更新日期：2013-05-01 00:00:00
abstract：:The sequences of the hypervariable region 1 (HV1) of the mitochondrial DNA control region from multiple hair shafts from 10 unrelated individuals were compared to determine the frequency of differences in hairs from one individual. The extraction method described herein showed an average success rate of 67% for all 15...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140050226
更新日期：1999-01-01 00:00:00
abstract：:Linking biological samples found at a crime scene with the actual crime event represents the most important aspect of forensic investigation, together with the identification of the sample donor. While DNA profiling is well established for donor identification, no reliable methods exist for timing forensic samples. He...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-010-0457-1
更新日期：2010-09-01 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：:Volatile substances are used widespread, especially among young people, as a cheap and easily accessible drug. Tetrachloroethylene is one of the solvents exerting effects on the central nervous system with experiences of disinhibition and euphoria. The case presented is that of a 27-year-old female, found dead by her ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-015-1143-0
更新日期：2015-05-01 00:00:00
abstract：:In this study the development of a 13-locus multiplex-PCR system fitting the updated demands for paternity testing in Germany is described. For this purpose an existing multiplex PCR system that allows the simultaneous amplification of eight different STR loci together with the sex-specific locus amelogenin ( genRESMP...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-003-0420-5
更新日期：2004-02-01 00:00:00
