Abstract：
:Sudden infant death syndrome is the unexpected demise of a child younger than 1 year of age which remains unexplained after a complete autopsy investigation. Usually, it occurs during sleep, in males, and during the first 12 weeks of life. The pathophysiological mechanism underlying the death is unknown, and the lethal episode is considered multifactorial. However, in cases without a conclusive post-mortem diagnosis, suspicious of cardiac arrhythmias may also be considered as a cause of death, especially in families suffering from any cardiac disease associated with sudden cardiac death. Here, we review current understanding of sudden infant death, focusing on genetic causes leading to lethal cardiac arrhythmias, considering both genes encoding ion channels as well as structural proteins due to recent association of channelopathies and desmosomal genes. We support a comprehensive analysis of all genes associated with sudden cardiac death in families suffering of infant death. It allows the identification of the most plausible cause of death but also of family members at risk, providing cardiologists with essential data to adopt therapeutic preventive measures in families affected with this lethal entity.
journal_name
Int J Legal Medjournal_title
International journal of legal medicineauthors
Sarquella-Brugada G,Campuzano O,Cesar S,Iglesias A,Fernandez A,Brugada J,Brugada Rdoi
10.1007/s00414-016-1330-7subject
Has Abstractpub_date
2016-03-01 00:00:00pages
415-20issue
2eissn
0937-9827issn
1437-1596pii
10.1007/s00414-016-1330-7journal_volume
130pub_type
杂志文章,评审abstract：:The histological staining technique using rhodizonate is also effective for the determination of the firing distance by examining the distribution and intensity of the staining reaction. The differentiation between absolute close-range shots and long-range shots is generally possible without any doubt. The method is n...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140100220
更新日期：2002-02-01 00:00:00
abstract：:DNA-based prediction for externally visible characteristics such as eye color is already a useful tool in forensic criminal investigations. The IrisPlex system, consisting of six single nucleotide polymorphisms (SNPs) and a prediction model, was developed based on individuals from several European populations. Other r...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-013-0953-1
更新日期：2014-05-01 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：:Alleles of the STR systems HumFES/FPS, HumVWA and HumD21S11 were sequenced and analyzed. Sequence data revealed 3 different systems concerning the complexity of their sequence structure. HumFES/FPS belongs to the STR polymorphism with a simple repeat structure. Only 2 subtypes were found with a base substitution in th...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01224779
更新日期：1994-01-01 00:00:00
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：:ABO blood grouping of human bloodstains was performed by a sandwich ELISA using a species-specific monoclonal antibody to the amino-terminal cytoplasmic domain of human red cell membrane band 3. In a blind trial, all A, B and O bloodstains (a 1 cm long thread) and AB bloodstains (a 1.5 cm long thread) were accurately ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01642795
更新日期：1993-01-01 00:00:00
abstract：:Anthropologists are constantly seeking to improve methods for age estimation in the human skeleton. A new method was introduced about a decade ago that assesses the morphological changes that take place in the acetabulum as an individual ages. The pelvis is usually well preserved in forensic cases, which makes this me...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-015-1299-7
更新日期：2016-05-01 00:00:00
abstract：:Multiple tooth development staging techniques were reported based on arbitrarily set borderlines between succeeding stages. Anatomic tooth features or predictions of future tooth part dimensions were described to identify the thresholds between the established stages. The need to predict mature tooth dimensions, while...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-014-1011-3
更新日期：2015-01-01 00:00:00
abstract：:Forensic age estimation of living individuals has become increasingly important in forensic practice with the constant increase of migration movements to developed countries. The method of Greulich and Pyle is one of the most frequently used methods for age determination. The aim of our study was to verify the reliabi...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-014-1028-7
更新日期：2015-01-01 00:00:00
abstract：:Population studies on six short tandem repeat loci, HUMF13A01, HUMFXIIIB, HUMLIPOL, HUMTH01, HUMTPOX and HUMVWFA31 were carried out in a sample of unrelated Japanese individuals (n = 337-545) living in Gifu Prefecture (central region of Japan). Five alleles could be identified for HUMFXIIIB, six for HUMF13A01, HUMLIPO...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01369599
更新日期：1996-01-01 00:00:00
abstract：:Bone marrow (BM) analysis is of forensic interest for postmortem toxicological investigations where blood samples are unavailable or unusable. Due to the lack of studies, it remains difficult to interpret concentrations of xenobiotics measured in this matrix. Based on a statistical approach published previously to int...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-013-0833-8
更新日期：2013-09-01 00:00:00
abstract：:The original version of this article unfortunately contained a mistake in the Results section. The correct equation from the cubic regression analysis for male is: Age = 14.408 + 0.475X-0.064X2 + 0.005X3, and for the female is: 18.196-1.637X + 0.204X2-0.005X3. The error doesn't affect the main conclusion. ...
journal_title：International journal of legal medicine
pub_type： 杂志文章,已发布勘误
doi：10.1007/s00414-017-1751-y
更新日期：2018-01-01 00:00:00
abstract：:Short tandem repeats (STRs) are DNA regions with a variable number of repeated units (2-6 bp) and attractive to genetic application like forensic, population genetics, and anthropological studies. The Huaxia Platinum System allows the multiplex amplification of 23 autosomal STR loci and two gender determination loci. ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-017-1679-2
更新日期：2018-07-01 00:00:00
abstract：:For the interpretation of the concentration of morphine in blood samples of heroin consumers information about the concentration of the analgesic active morphine metabolite morphine-6-glucuronide is very important. Thus a simple but specific clean-up procedure based on immuno-affinity chromatography is presented for t...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140050073
更新日期：1997-01-01 00:00:00
abstract：:On September 23rd 1993 Genova was flooded by heavy rainstorms and 4 people disappeared, including an elderly couple. Four days later a partially skeletonized body was found floating near the coast. No visual identification was possible. Autopsy findings were consistent with the medical history of a possible victim. DN...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01428409
更新日期：1995-01-01 00:00:00
abstract：:Drowning remains one of the major causes of death in most developed countries despite the fact that many of the victims are known to be at least moderate swimmers as well as healthy directly before the event. Here, fatal arrhythmias and especially the long QT syndrome (LQTS) have been proposed as the underlying mechan...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-015-1259-2
更新日期：2016-03-01 00:00:00
abstract：:During the testing of alternative primers for the Y chromosome short tandem repeat marker DYS19, a duplicated region of the Y chromosome was discovered. The duplicated sequence is contained within GenBank accession AC006335 and has a high degree of homology with the DYS19 flanking region (GenBank accession AC017019) b...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-004-0436-5
更新日期：2004-06-01 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：:The measurement of the myeloperoxidase activity was used to quantify the acute granulocyte reaction. A 35% loss of blood resulted in a clear decrease of the myeloperoxidase activity at the edges of experimental incision wounds in rat skin in the first day after inflicting the wounds. After 12 h only about one-third an...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140050101
更新日期：1998-01-01 00:00:00
abstract：:The analysis of a mixed biological stain by means of highly polymorphic VNTR systems usually reveals a profile composed of multiple alleles. If the victim and one or several suspects match the profile the evidential strength of the matches has to be very carefully analysed. The appropriate methods for the statistical ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140050019
更新日期：1999-01-01 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：:A 49-year-old white male was found lying unconscious at home. He had vomited, his mouth was filled with a white foam and a pungent odour filled the room. After emergency treatment blood, urine and stomach contents were screened for drugs after acid and alkaline extraction with subsequent derivatisation and GC-MS analy...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s004140050080
更新日期：1997-01-01 00:00:00
abstract：:Carisoprodol is commonly prescribed as a centrally acting muscle relaxant, but it is also subject to abuse. The literature describing fatal intoxications with the drug is limited to a relatively small number of cases, and there are inconsistencies with regard to which concentration levels that are toxic. We therefore ...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-006-0139-1
更新日期：2007-09-01 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：:Estimation of age in individuals has received considerable attention in the forensic literature. The reduction of size of dental pulp cavity as a result of secondary dentin deposit with increasing age could be used as an indicator of age. This regression change, apart from morphological techniques, can also be analyse...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-008-0268-9
更新日期：2009-03-01 00:00:00
abstract：:Bullet velocity is a basic parameter in wound ballistics studies. It is usually measured electronically by means of a variety of solid or photoelectric barriers connected to equipment measuring the time elapsing between impulses, enabling the velocity to be calculated. With the advent of Doppler radar velocity measure...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01247266
更新日期：1994-01-01 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：:Many studies related to three-dimensional facial reconstruction have been previously reported. On the other hand, no extensive work has been found in the literature about hand reconstruction as an identification method. In this paper, the feasibility of virtual reconstruction of hand skin based on (1) its skeleton and...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-007-0204-4
更新日期：2007-11-01 00:00:00
abstract：:In humans, the amelogenin gene is present on both the X and the Y chromosomes. However, there are size differences in this gene between these chromosomes, which have been utilised for sexing in forensic casework and prenatal diagnosis. Our study using the AmpFl STR Profiler Plus kit, showed a deletion of Y chromosome-...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/s00414-001-0262-y
更新日期：2002-04-01 00:00:00
abstract：:Speckle interferometry is a non-destructive measurement technique using a laser. The principles of the method are described. Human hyoid bones (n = 10) were investigated. Loads were applied to individual points on the anterior surface of the body of hyoid bones. All hyoid bones showed an asymmetric displacement. The d...
journal_title：International journal of legal medicine
pub_type： 杂志文章
doi：10.1007/BF01225233
更新日期：1993-01-01 00:00:00
