Sudden cardiac death-update.

Sudden cardiac death (SCD) is one of the most common causes of death worldwide with a higher frequency especially in the young. Therefore, SCD is represented frequently in forensic autopsy practice, whereupon pathological findings in the heart can explain acute death. These pathological changes may not only include myocardial infarction, coronary thrombosis, or all forms of myocarditis/endocarditis but also rare diseases such as hereditary structural or arrythmogenic anomalies, lesions of the cardiac conduction system, or primary cardiac tumours.

Optimising magnetic resonance imaging-based evaluation of the ossification of the medial clavicular epiphysis: a multi-centre study.

Evaluation of the ossification of the medial clavicular epiphysis plays a key role in forensic age estimation, particularly in determining whether the age of 18 has been attained. A key research objective in the forensic age estimation field at present is to establish non-X-ray methods for investigating the clavicle. This paper looks at the use of magnetic resonance imaging for evaluating the developmental state of the medial clavicular epiphysis. Clavicle specimens obtained from autopsies of 125 female and 270 male subjects aged from 10 to 30 were examined using a 3-T magnetic resonance scanner. One FFE-3D-T1 gradient echo sequence and one 2D-T2 turbo spin echo sequence were acquired. In each case, two investigators undertook a consensual determination of the ossification stage of the medial clavicular epiphysis using recognised classification systems. To determine intra-observer and inter-observer agreement, 80 clavicle specimens were subjected to repeat evaluation. We present statistics relating to the ossification stages. The inclusion of established sub-stages of clavicular ossification offers an additional option for determining whether a subject has attained the age of 18 which is applicable in both sexes. For both sexes, the minimum ages for ossification stages 4 and 5 allow conclusions to be drawn about a subject's age at a point in time lying several years in the past. Magnetic resonance imaging is a valid investigatory procedure for determining the ossification stage of the medial clavicular epiphysis. This paper makes a contribution to expanding the range of methods available for forensic age estimation.

European Council of Legal Medicine (ECLM) accreditation of forensic pathology services in Europe.

Forensic experts play a major role in the legal process as they offer professional expert opinion and evidence within the criminal justice system adjudicating on the innocence or alleged guilt of an accused person. In this respect, medico-legal examination is an essential part of the investigation process, determining in a scientific way the cause(s) and manner of unexpected and/or unnatural death or bringing clinical evidence in case of physical, psychological, or sexual abuse in living people. From a legal perspective, these types of investigation must meet international standards, i.e., it should be independent, effective, and prompt. Ideally, the investigations should be conducted by board-certified experts in forensic medicine, endowed with a solid experience in this field, without any hierarchical relationship with the prosecuting authorities and having access to appropriate facilities in order to provide forensic reports of high quality. In this respect, there is a need for any private or public national or international authority including non-governmental organizations seeking experts qualified in forensic medicine to have at disposal a list of specialists working in accordance with high standards of professional performance within forensic pathology services that have been successfully submitted to an official accreditation/certification process using valid and acceptable criteria. To reach this goal, the National Association of Medical Examiners (NAME) has elaborated an accreditation/certification checklist which should be served as decision-making support to assist inspectors appointed to evaluate applicants. In the same spirit than NAME Accreditation Standards, European Council of Legal Medicine (ECLM) board decided to set up an ad hoc working group with the mission to elaborate an accreditation/certification procedure similar to the NAME's one but taking into account the realities of forensic medicine practices in Europe and restricted to post-mortem investigations. This accreditation process applies to services and not to individual practitioners by emphasizing policies and procedures rather than professional performance. In addition, the standards to be complied with should be considered as the minimum standards needed to get the recognition of performing and reliable forensic pathology service.

Accidental mechanical asphyxia of children in Germany between 2000 and 2008.

Accidents constitute one of the greatest risks to children, yet there are few medical reports that discuss the subject of accidental asphyxia. However, a systematic analysis of all documented cases in Germany over the years 2000-2008 has now been conducted, aiming at identifying patterns of accidental asphyxia, deducing findings, defining avoidance measures and recommending ways of increasing product safety and taking possible precautions. The analysis is based on a detailed retrospective analysis of all 91 relevant autopsy reports from 24 different German forensic institutes. A variety of demographic and morphological data was systematically collected and analysed. In 84 of the 91 cases, the sex of the victim was reported, resulting in a total of 57 boys (68 %) and 27 girls (32 %). The age spread ranged between 1 day and 14 years, with an average of 5.9 years. Most accidents occurred in the first year of life (20 %) or between the ages of 1 and 2 years (13 %). In 46 % of cases, the cause of death was strangulation, with the majority occurring in the home environment. In 31 % of all cases, the cause of death was positional asphyxia, the majority resulting from chest compression. In 23 % of cases, the cause of death was aspiration, mainly of foreign bodies. Today, accidental asphyxiation is a rare cause of death in children in Germany. Nevertheless, the majority of cases could have been avoided. Future incidence can be reduced by implementing two major precautions: increasing product safety and educating parents of potentially fatal risks. Specific recommendations relate to children's beds, toys and food.

[Sudden cardiac death. Selected forensic aspects]. / Plötzlicher Herztod. Ausgewählte rechtsmedizinische Aspekte.

Sudden cardiac death is one of the most common causes of death and a significant number of sudden deaths occurs especially in young people. Sudden cardiac death is also frequently represented in forensic autopsy practice. In such cases pathological findings in the heart can often explain the reason for the acute death. These pathological changes include not only myocardial infarction, coronary thrombosis and all forms of myocarditis/endocarditis but also rare diseases, such as hereditary structural or arrythmogenic anomalies, lesions of the cardiac conduction system or primary cardiac tumors.

De novo mutation in the SCN5A gene associated with early onset of sudden infant death.

BACKGROUND: Congenital long QT syndrome (LQTS), a cardiac ion channel disease, is an important cause of sudden cardiac death. Prolongation of the QT interval has recently been associated with sudden infant death syndrome, which is the leading cause of death among infants between 1 week and 1 year of age. Available data suggest that early onset of congenital LQTS may contribute to premature sudden cardiac death in otherwise healthy infants. METHODS AND RESULTS: In an infant who died suddenly at the age of 9 weeks, we performed mutation screening in all known LQTS genes. In the surface ECG soon after birth, a prolonged QTc interval (600 ms(1/2)) and polymorphic ventricular tachyarrhythmias were documented. Mutational analysis identified a missense mutation (Ala1330Pro) in the cardiac sodium channel gene SCN5A, which was absent in both parents. Subsequent genetic testing confirmed paternity, thus suggesting a de novo origin. Voltage-clamp recordings of recombinant A1330P mutant channel expressed in HEK-293 cells showed a positive shift in voltage dependence of inactivation, a slowing of the time course of inactivation, and a faster recovery from inactivation. CONCLUSIONS: In this study, we report a de novo mutation in the sodium channel gene SCN5A, which is associated with sudden infant death. The altered functional characteristics of the mutant channel was different from previously reported LQTS3 mutants and caused a delay in final repolarization. Even in families without a history of LQTS, de novo mutations in cardiac ion channel genes may lead to sudden cardiac death in very young infants.

Pigment variant of neuronal ceroid-lipofuscinosis.

A 6-year-old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep-tendon reflexes which suggested Charcot-Marie-Tooth disease. Her sister, who also had both polyneuropathy and a progressive central nervous system (CNS) disease, did not have pigmentary retinopathy. At autopsy, the patient was found to have neuronal ceroid-lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluorescent granular lipopigments in ballooned perikarya and conspicuous extraneuronal pigmentation of subcortical grey matter, but without axonal spheroids. These findings indicate a pigment variant of NCL and represent one of very few patients recorded. The ultrastructure of the intraneuronal pigments was uniformly granular, while that of the extraneuronal pigments found within processes of the neuropil and glial perikarya was more variegated. In addition to those patients with the pigment variant of NCL, described earlier by Jakob and Kolkmann [1973: Acta Neuropathol (Berl) 26:225-236], and Jervis and Pullarkat [1978: Neurology 28:500-503], our patient shared clinical symptoms with those described in a family afflicted with polyneuropathy and NCL by Wisniewski et al. [1987: J Child Neurol 2:33-41]. Currently, it is unclear whether they have similar atypical forms of juvenile NCL (JNCL). We conclude that the spectrum of pigment variants in lysosomal diseases is heterogeneous: only few and recently described patients have had NCL, while others most likely had other forms of lipidosis.

Detection and significance of adenoviruses in cases of sudden infant death.

Respiratory tract infections have been thought to act as a trigger mechanism in sudden infant death. In 118 autopsy cases of infant death, paraffin-embedded or frozen lung tissues were investigated by means of a nested polymerase chain reaction (PCR) to detect adenovirus (AV) DNA. The primers used are general primers and allow the detection of most pathogenic adenoviruses with high specificity and sensitivity and independently of devitalization of viruses or degradation of viral DNA. For the investigation three groups were established: there were 13 cases of unnatural death, 78 cases of natural death without histological signs of interstitial pneumonia, and 27 cases with interstitial pneumonia. The first group was AV negative. In the group without interstitial pneumonia AV was detected in 10.2% of the cases. In the group with interstitial pneumonia the frequency of AV detection was almost 26%. The results obtained demonstrate an association between interstitial pneumonia and detection of AV DNA, indicating that AV may play an important part in pulmonary infection in infants. Histological evidence of interstitial pneumonia was not observed in all AV-positive cases, perhaps because nonspecific virus-related changes occurred only in early stages of viral infection. Comparison of the AV frequency in SIDS (25%) and non-SIDS cases (4%) indicates an association between pulmonary AV infections and sudden death. These results support the working hypothesis of respiratory infections acting as a trigger mechanism in sudden infant death.

Use of polymerase chain reaction for postmortem diagnosis of malaria.

Delay or failure in diagnostic or therapeutic management of Plasmodiumfalciparum malaria may result in avoidable deaths, often incurring medicolegal procedures. Advanced postmortem autolytic processes and putrefication may thwart malaria diagnosis by traditional microscopic and histologic examinations. The authors describe the usefulness of polymerase chain reaction to confirm postmortem diagnosis of malaria.

Prolonged QT interval and sudden infant death--report of two cases.

In the two cases where infants died suddenly and unexpectedly the electrocardiogram (ECG) of a younger sibling (case 1) and of a living twin (case 2) led to the suspicion that the two infants could have died from long QT syndrome (LQTS). In case 1, a His bundle (HB) dispersion and a pronounced hypoplasia of the right external nucleus arcuatus were detected. In case 2, a severe interstitial pneumonia and an accompanying mild myocarditis were found by histology. Molecular genetic investigations of the coding regions of the genes, HERG, KVLQT1 and SCN5A gave no indication for the mutations, thus, affecting related myocardial ion channels as possible sources of inhomogeneity of repolarisation. Since a molecular genetic deviation could not yet be elaborated the possible role of related disturbance remains unknown.

[Dose- and age-dependence of the renal tubular transport of p-aminohippuric acid (PAH) in rats after injection of single doses]. / Dosisabhängigkeit und Altersgang des renalen tubulären Transportes von p-Aminohippursäure (PAH) bei Ratten nach Injektion von Einzeldosen.

The renal excretory capacity for tubularly eliminated foreign substances can be determined with certainty by measuring the excretion of p-aminohippuric acid (PAH). To make superfluous the laborious estimation of the maximum tubular transport capacity in the framework of screening programs, the authors established those doses of PAH the single application of which permits to assess the renal tubular transport capacity of rats of differing ages. Because of its selective renal excretion, it is possible to calculate for PAH a half-time value in urine (t1/2, urine) such as commonly indicated for the serum. Except for extremely high dosages (500 mg PAH/100 g body mass: intraperitoneally), the t1/2, urine value for PAH in adult rats is independent of the dose applied. The t1/2, urine value increases in rats 5 and 10 d of age with increasing PAH doses. In rats of all age-groups, the glomerularly filtered PAH proportion increases with increasing dosage (kinetics in decreasing blood level). In rats 5 and 10 d of age, the proportion of glomerularly filtered PAH in the total amount of excreted PAH is greater than in older rats.

[Roentgen imaging of stab wounds in parenchymatous organs]. / Röntgendarstellung von Stichkanälen in parenchymatösen Organen.

Stab wounds were made in parenchymatous organs (e.g. liver, spleen, kidneys, lungs) using a variety of instruments. The shape of the resulting canal was investigated by X-ray analysis after introduction of an X-ray contrast medium. The best contrast was obtained using a contrast medium containing barium. The shape of the canal gave a direct representation of the outline of the instrument used. The width of the canal was however, always several millimeters smaller than the corresponding blade of the instrument. The position of the blade back in single-edged blades could be demonstrated with stronger contrast.

[Detection and documentation of masked blood stains with infrared technique]. / Auffindung und Dokumentation maskierter Blutspuren mit Infrarottechnik.

On dark textiles the visualization of blood stains with the naked eye is either difficult or impossible. In experimental stains and in case work stains we have applied an infrared (IR) video camera in combination with a video printer. As an alternative, an IR goggle was used which could also be connected with a video printer. The results obtained on a variety of different stains and stain carriers are encouraging. Stains showing poor contrast usually become more contrasted. Stains which are partly masked can become complete. Masked stains can become visible. The system is not effective in all combinations of stains and carriers. But it solves a great proportion of formerly problematic cases. Documentation of results is quite easy if a videoprinter is used.

[Death caused by sharp injury. Criminologic and criminalistic aspects]. / Tod durch scharfe Gewalt. Kriminologische und kriminalistische Aspekte.

From 3497 obductions during the ten years between 1979 and 1988 100 homicides and 18 suicides were caused by sharp trauma. Homicide by sharp trauma is the most frequent method for killing. These 100 homicides were analysed in relation to the age and nationality of victims and perpetrators, place of action, number and localisation of wounds, cause of death. The main results are discussed, particularly those which vary from the results of other authors.

[Homicides without clues in children]. / Spurenarme Tötungsdelikte an Kindern.

From 1990 to 1995, 274 deaths of infants (age range 7 days-6 years) were investigated in Münster, where there were no indications of suspicious circumstances. In 167 cases a legal autopsy was carried out and revealed 5 homicides. In 107 cases where an autopsy was not ordered by the prosecutor 3 homicides were discovered. A similar frequency of homicides in both groups indicates that the criteria used to form the basis of a decision by the prosecutor to release the body are insufficient. On average one out of 30 cases was found to be a homicide as the result of the autopsy where the initial assumption was death from natural causes.

[Prostaglandin E in vaginal smears--a possibility for sperm detection in azoospermia]. / Prostaglandin E in Vaginalabstrichen--eine Möglichkeit des Spermanachweises bei Azoospermie.

The identification of seminal traces is exceptionally difficult, if the semen of the assailant is azoospermic. The evident value of prostatic acid phosphatase (PAP) activity must be evaluated in such cases with caution. In a murder investigation of a 13 year old girl a positive PAP reaction was found in vaginal swabs and in her underpants. Spermatozoa could not be found. Using the gas-chromatographic method, described by Douse (1985) the presence of prostaglandin E could be demonstrated in the swabs as well as in the crotch of the underpants. The offender was found to be a man with azoospermia, who admitted intercourse but with the consent of the victim. The E prostaglandins are mainly synthesized in the vesiculae seminal and seen to be specific for semen. Swabs taken from mouth and rectum showed negative reactions for prostaglandins in this case. Prostaglandins could never be detected in vaginal swabs taken at least 7 days after intercourse. Conversely Douse could detect prostaglandins in swabs up to 58 hours after intercourse. Apparently the prostaglandin detection by Douse provides a suitable alternative besides to the quantitative and immunological PAP detection or the immunological detection of the protein p 30.

Does breastfeeding reduce the risk of sudden infant death syndrome?

BACKGROUND: In the last 20 years, the prevention campaigns to reduce the risk of sudden infant death syndrome were very successful. In some countries the advice to breastfeed is included in the campaigns' messages, but in other countries it is not. OBJECTIVE: To examine the association between type of infant feeding and sudden infant death syndrome. METHODS: The German Study of Sudden Infant Death is a case-control study of 333 infants who died of sudden infant death syndrome and 998 age-matched controls. RESULTS: A total of 49.6% of cases and 82.9% of controls were breastfed at 2 weeks of age. Exclusive breastfeeding at 1 month of age halved the risk, partial breastfeeding at the age of 1 month also reduced the risk of sudden infant death syndrome, but after adjustment this risk was not significant. Being exclusively breastfed in the last month of life/before the interview reduced the risk, as did being partially breastfed. Breastfeeding survival curves showed that both partial breastfeeding and exclusive breastfeeding were associated with a reduced risk of sudden infant death syndrome. CONCLUSIONS: This study shows that breastfeeding reduced the risk of sudden infant death syndrome by approximately 50% at all ages throughout infancy. We recommend including the advice to breastfeed through 6 months of age in sudden infant death syndrome risk-reduction messages.

Nicotine and cotinine in infants dying from sudden infant death syndrome.

The aim of this component of the German Study on Sudden Infant Death was to determine (1) nicotine concentrations in hair (NCH), as a marker of long standing exposure to tobacco, (2) cotinine concentrations in pericardial fluid (CCP) and (3) cotinine concentrations in liquor cerebrospinalis (CCL), the latter measures being markers of recent exposure to tobacco in the last few hours of life. The results obtained were compared with data on parental smoking revealed from interviews. In 100 cases of sudden infant death syndrome, material was taken at autopsy to determine NCH. In 41 cases, NCH and CCP, and in 70 cases, NCH and CCL were determined. Infants of mothers who stated having smoked during pregnancy had higher NCH than infants of non-smoking mothers (p = 0.008). Furthermore, there was a weak but statistically significant relationship between NCH's and the daily cigarette consumption of the mother during pregnancy (n = 64, r = 0.24, p = 0.05). In 43% of infants, nicotine could be detected in their hair, although the mothers had said at the interview that they did not smoke during pregnancy. On the other hand, in 33% of infants whose mother stated they had smoked during pregnancy nicotine was not detectable in the infant's hair. CCP's were strongly correlated with CCL's (r = 0.62, p = 0.0027). For this reason, both parameters were treated as equivalent for the detection of tobacco smoke exposure in the last hours before death. The influence of breast-feeding was evaluated by comparison of the nicotine concentrations in breast fed and non-breast-fed infants from smokers and non-smokers. Fivefold higher nicotine concentrations were determined in non-breast-fed infants of parents who smoked as compared to all other groups. It can be concluded that nicotine intake by passive smoking is much more important than by breast-feeding. We conclude that both interview data and biochemical measures should be sought to understand the true exposure to tobacco smoke.