A comparison of pulmonary intra-alveolar hemorrhage in cases of sudden infant death due to SIDS in a safe sleep environment or to suffocation

The differentiation of SIDS from accidental or inflicted suffocation may be impossible without corroborating findings from the death scene or autopsy or in the absence of a confession from a perpetrator. Pulmonary intra-alveolar hemorrhage (PH) has been proposed as a potential clue to suffocation, but none of the previous studies on this topic have limited SIDS cases to those who were in a safe sleep environment, in which all were found supine and alone on a firm surface with their heads uncovered. Our aims are to: (1) compare PH in SIDS cases found in a safe sleep environment to a control group comprised of infants whose deaths were attributed to accidental or inflicted suffocation and (2) assess the effect of age, CPR, and postmortem interval (PMI), with regard to the severity of PH in this subset of safe-sleeping SIDS cases. We conducted a retrospective study of all postneonatal cases accessioned by the Office of the Medical Examiner in San Diego County, California who died of SIDS or suffocation between 1999 and 2004. A total of 74 cases of sudden infant death caused by SIDS (34 cases as defined above, comprising 8% of the total SIDS cases), accidental suffocation (37), and inflicted suffocation (3) from the San Diego SIDS/SUDC Research Project database were compared using a semiquantitative measure of pulmonary intra-alveolar hemorrhage. The most severe (grade 3 or 4) PH occurred in 35% of deaths attributed to suffocation, but in only 9% of the SIDS cases. Age, duration of CPR attempts and PMI had no effect on the severity of PH in SIDS. Our results indicate that the severity of PH cannot be used independently to differentiate SIDS from suffocation deaths. Each case must be evaluated on its own merits after thorough review of the medical history, circumstances of death, and postmortem findings.     

婴幼儿猝死综合征心传导系统的免疫组化研究

作者应用ＰＧＰ９．５与抗Ｓ１００抗体和高压消毒蒸锅抗原复活技术对４例婴幼儿猝死综合征（ＳＩＤＳ）和３例非心源性死亡对照婴儿心传导系统的神经组织总量进行免疫组化研究。结果：在正常婴儿心传导系统，ＰＧＰ９．５与Ｓ１００阳性的神经纤维里不均匀分布，以窦房结最多，房室结次之，希氏束最少；４例ＳＩＤＳ心传导系统的神经组织分布同对照组无明显差异。     

Ocular findings in pediatric deaths under 2 years of age (1994-2004)

Abstract:  Our purpose is to highlight novel ocular findings of 102 forensic pediatric cases under 2 years of age who die suddenly. Forensic information, grossing, and microscopic eye protocol was followed. The most common diagnosis was Sudden Infant Death Syndrome (SIDS) (57/102). Novel cytoid bodies were present in the retina of 72/102 cases and they were located predominantly 90% (65/72) at the anterior part of the retina ( p  < 0.001). Of the SIDS cases, 85% (47/57) showed the presence of cytoid bodies, and among all diagnosis, SIDS was the most associated with cytoid bodies ( p  = 0.003). A second observation was extramedullary hematopoiesis (EMH) identified in 35/102 cases and 22 of the 57 SIDS cases. The most frequent EMH location was the choroids (29/35). This study is the first to demonstrate the presence of cytoid bodies and extramedullary hematopoiesis in the retinas of SIDS cases and children who die suddenly from other causes.     

婴儿急死综合征(SIDS)颈动脉体的超微结构

作者利用透射电镜对8例婴儿急死综合征死亡及4例其他原因死亡的婴儿的颈动脉体进行观察。发现婴儿急死综合征与非婴儿急死综合征死亡的婴儿,其颈动脉体的主细胞形态结构相似。两组检材的主细胞内均含大量致密颗粒,其大小及数量无明显不同。认为有必要进一步应用生化技术对婴儿急死综合征颈动脉体主细胞中致密颗粒物质进行定性和定量研究。     

婴儿猝死综合征的法医学鉴定

近20多年来,婴儿猝死综合征（sudden infant death syndrome,SIDS）一直是西方发达国家医学界尤其是法医学和儿科学领域研究的热点。目前,随着对SIDS广泛而深入的研究,对其病因、发病特点、危险因素以及致病机制等都有了更明确的认识。虽说近年来SIDS的发病率已有明显下降,在欧美洲、澳洲等发达国家,SIDS仍然是导致1个月到1岁婴儿死亡的首要原因。在亚洲国家和地区,尤其是发展中国家SIDS的报道很少见。本文通过总结文献并结合美国马里兰州近20年（1990—2006）来对SIDS的调查研究资料,介绍SIDS的发展历史、研究现状和新的发展趋势,并对SIDS法医学鉴定程序及鉴定要素进行讨论。     

The Institution of a Standardized Investigation Protocol for Sudden Infant Death in the Eastern Metropole,Cape Town,South Africa,,

The rate for the sudden infant death syndrome (SIDS) in Cape Town, South Africa, is estimated to be among the highest in the world (3.41/1000 live births). In several of these areas, including those of extreme poverty, only sporadic, nonstandardized infant autopsy, and death scene investigation (DSI) occurred. In this report, we detail a feasibility project comprising 18 autopsied infants with sudden and unexpected death whose causes of death were adjudicated according to the 1991 NICHD definitions (SIDS, n = 7; known cause of death, n = 7; and unclassified, n = 4). We instituted a standardized autopsy and infant DSI through a collaborative effort of local forensic pathology officers and clinical providers. The high standard of forensic investigation met international standards, identified preventable disease, and allowed for incorporation of research. We conclude that an effective infant autopsy and DSI protocol can be established in areas with both high sudden unexpected infant death, and elsewhere. (SUID)/SIDS risk and infrastructure challenges.     

Significant association of TH01 allele 9.3 and SIDS

Sudden infant death syndrome (SIDS) constitutes a considerable percentage of infant death of unknown etiology. Individual catecholamine response variation is suspected to play a role in SIDS. TH01 is a tetrameric short tandem repeat marker in the tyrosine hydroxylase gene, which regulates gene expression and catecholamine production with allele 9.3 exerting a particularly strong effect on noradrenaline production. We investigated in an age-controlled study the TH01 allele frequencies in 127 cases of SIDS and 406 control cases to assess whether in SIDS cases a distinct TH01 allele distribution could be determined as has been reported by a previous study. We found that genotypes containing one or two 9.3 alleles were significantly more frequent in SIDS patients (58.2%) than in control subjects (48.4%, p=0.038), whereas all other alleles were more frequent in the control subjects. Our findings support the notion that there exists a significant association between TH01 gene configuration and SIDS.     

Tyrosine Hydroxylase TH01 9.3 Allele in the Occurrence of Sudden Infant Death Syndrome in Swiss Caucasians

Catecholamines, especially noradrenalin, are essential in the control of respiration and arousal. Thus, an impaired production of these neurotransmitters may contribute to the occurrence of sudden infant death syndrome (SIDS). The first step of the noradrenergic synthesis pathway is catalyzed by the enzyme tyrosine hydroxylase (TH). The TH‐encoding gene contains a tetrameric short tandem repeat in intron 1 (TH01), with allele 9.3 reported to be associated with SIDS in German infants. We investigated the allelic frequency of the TH01 marker in 171 Swiss SIDS infants and 500 healthy and gender‐matched Caucasian adults. In our study population, the allelic frequency of the 9.3 allele is similarly distributed in SIDS cases and controls (27.2% vs. 25.6%; p‐value = 0.562). Nevertheless, the TH‐encoding gene is only one of several genes involved in the noradrenergic biosynthesis pathway. Therefore, further genetic investigations are required with focus on the whole noradrenergic signaling system.     

Epidemiology of sudden infant death (sudden infant death syndrome, SIDS) in the Lübeck area. Catamnestic studies of 155 observed cases from 1971 to 1981

The 155 cases of SIDS investigated at the Institut für Rechtsmedizin of the Medizinische Hochschule in Lübeck (northern part of the Federal Republic of Germany) between 1971 and 1981 have been analysed retrospectively under epidemiological aspects. The incidence was 2.17 cases of SIDS/1,000 live-born babies, 63.9% were male, 79.3% of the infants died during the first 6 months of life with a clear peak in the 2nd month. There was no seasonal accumulation; 68.4% of the infants died between 8.00 p.m. and 8.00 a.m., in 75% the socio-economic factors were inconspicuous, but we observed a significantly higher incidence of infants from mothers younger than 25 years. In 58% of our cases no signs of illness or changed behaviour had been observed during the 48 h before death. The results of our study are compared with the literature and discussed with special regard to a possible prevention.     

Sudden infant death syndrome: a subject of medicolegal research

During the last decade, much attention has been paid to the risk factors of sudden infant death syndrome (SIDS). Many researchers have demonstrated that infant-care practices are linked to the risk of SIDS. Prone sleeping, bed sharing, maternal substance abuse, and cigarette smoking have been reported to be significant potentially modifiable risk factors for SIDS. Despite the reports that the incidence of SIDS has decreased by 38% in the United States, it remains the leading cause of death in the first year of life. Deaths resulting from child abuse or neglect inflicted or permitted by their caretakers being second only to SIDS in infant mortalities and some recommendations regarding the differentiation of SIDS and child abuse have generated speculation that some cases of infanticide were misdiagnosed as SIDS. To reach a proper conclusion as to the cause and manner of death of an infant who died suddenly and unexpectedly, investigation must be thorough and professional.     

Morphometric studies of the vertebral artery in infants and small children

The internal circumference of the vertebral artery and the cross-sectional area of its tunica media were measured planimetrically at three different topographical sites in 48 cases of sudden infant death syndrome (SIDS) and 18 reference cases. Based on preliminary determination of the error of measurement, both groups studied showed significant differences between sides. As the degree of differences is often marked, impressive haemodynamic consequences can be expected. The findings are discussed with regard to SIDS.     

婴儿猝死综合征的研究现状及其法医学检验

婴儿猝死综合征(dudden infant death s yndrome,SIDS)一直是法医学和儿科学领域的研究热点。相对于北美、欧洲、澳洲以及日本等地对SIDS广泛深入的研究,来自中国的报道相对较少。本文通过总结文献,介绍SIDS的发展历史、研究现状和新的发展趋势,并结合2004年各国学者在美国圣地亚哥公布的SIDS分型,讨论实际检案中需注意的问题以及推进其调查研究的可行性。     

A rare case of sudden death due to IgG4-related giant coronary artery aneurysms

Immunoglobulin G4-related disease (IgG4-RD) is a fibro-inflammatory condition that can affect many organs, either simultaneously or metachronously. In recent years, IgG4-related vascular complications of larger arteries such as the aorta and iliac arteries have been increasingly identified. Among vascular complications, coronary artery involvement in the forms of either periarteritis or coronary artery aneurysms (CAAs) has also been reported; however, are very rare in comparison. This case report presents a rare case of a sudden death due to occlusive thrombosis of IgG4-related giant CAAs measuring up to 10 cm in diameter, demonstrates their possible clinical progression, and shows how they can distort normal anatomy which may then pose challenges in the interpretation of postmortem-computed tomography scans. It also briefly discusses the diagnosis of IgG4-RD in arteries, both clinically and in the postmortem setting.     

Sudden Death Caused by Anomalous Origin of the Coronary Artery During Exercise

Anomalous origin of the coronary artery (AOCA) is a rare, but important cause of sudden cardiac death among young athletes. Nine autopsy cases (8 male, 1 female; mean age, 17.9 years; age range, 11–31 years) of sudden death during or just after exercise caused by AOCA were reviewed. The exercises performed at the time of death were running (4 cases), soccer (2 cases), and baseball, swimming and kendo (Japanese swordsmanship) (1 case each). In 6 cases, the left coronary artery arose from the right sinus of Valsalva, and in 3, the right coronary artery from the left sinus. The coronary arteries passed between the pulmonary artery and the aorta with an acute angle takeoff from the orifice. Three cases had cardiovascular manifestations prior to death. In cases with cardiovascular manifestations, novel imaging methods should be considered to prevent sudden death.     

Age-dependent morphologic findings of the thyroid in sudden infant death

Age (eight days to 12 months) and degree of colloid depletion or colloid content of the follicles (normal, partially depleted, depleted) were correlated on the basis of 176 thyroid investigations in cases of sudden infant death syndrome (SIDS). In the 176 SIDS cases, a resting thyroid gland with normal colloid content could only be found in 14%, whereas partially depleted follicles were found in 35% and depleted follicles in 51%. 60% of all cases showed a large degree of epithelial desquamation up to collapse of all follicles. A marked capillary hyperemia was found in 48%. 80% of the cases showed a normal colloid content in the first month of life, and colloidfree follicles should not be detected in any case. An increased incidence of thyroid activation was obtained in the total number of cases only from the second month of life. The histomorphological appearance of the thyroid gland thus corresponds to that of healthy infants only in the first month of life. The question as to why there is an evidently raised thyroid activity in the subsequent months of life in SIDS cases is discussed.     

An application of a quantitative analytical system for the grading of pulmonary fat embolisms

The severity of pulmonary fat embolism in 5 autopsied cases has been measured using a quantitative image analytical system. With reference to the mean size of the fat emboli, the cases were divided into 2 groupings regardless of the number of the emboli. The mean sizes of the emboli in 3 cases of the first group were significantly larger (about 490-600 microns 2) than those found in the 2 cases of the other group (about 220 and 235 microns 2). An investigation into the localization of fat emboli revealed that more were lodging in the small arteries and arterioles in the first group than in the second. Our results have indicated that a reliable grading of pulmonary fat embolism can not be established without a quantitative image analysis of the size and localization of the fat emboli, and that this quantitative analytical method is useful in achieving this reliable grading.     

Laryngeal basement membrane thickening is not a reliable postmortem marker for SIDS: results from the Chicago Infant Mortality Study.

It has been suggested that laryngeal basement membrane (LBM) thickening is a pathognomonic postmortem marker for sudden infant death syndrome (SIDS) and is not seen in other causes of explained sudden infant death. To test this hypothesis, we evaluated longitudinal sections of the right hemilarynx taken through the midpoint of the true vocal cord from 129 SIDS cases and 77 postneonatal sudden infant death controls. Using a five-point semi-quantitative scale, maximum LBM thickness (LBMT) for SIDS cases and controls was not statistically different (mean, 2.39 + 0.69 and 2.40 + 0.77, respectively). Likewise, scores based on the average thickness along the entire basement membrane (i.e., "average" score), were not found to be different between SIDS cases and controls. Average and maximum LBMT increased with age in both SIDS cases and controls and were not different between SIDS cases and controls within each age interval. Similar trends in the distribution of maximum and average LBMTs were found between black and Hispanic SIDS and controls; the number of white/non-Hispanic infants was too low for meaningful comparisons. Maximum and average LBMTs were not different in SIDS cases and controls exposed to environmental tobacco compared with unexposed infants. The LBMTs also increased significantly with body weight and length in both SIDS cases and controls. Finally, there were no differences in LBMT in infants intubated prior to death compared with those who were not intubated. From these data, we conclude that LBMT is not pathognomonic of SIDS, is present or absent with equal frequency in SIDS and controls, increases with postnatal age, and does not correlate with passive smoke exposure. Therefore, LBMT should not be used to diagnose SIDS.     

Sarcomeric gene mutations in sudden infant death syndrome (SIDS)

In developed countries, sudden infant death syndrome (SIDS) represents the most prevalent cause of death in children between 1 month and 1 year of age. SIDS is a diagnosis of exclusion, a negative autopsy which requires the absence of structural organ disease. Although investigators have confirmed that a significant percentage of SIDS cases are actually channelopathies, no data have been made available as to whether other sudden cardiac death-associated diseases, such as hypertrophic cardiomyopathy (HCM), could be responsible for some cases of SIDS. The presence of a genetic mutation in the sarcomeric protein usually affects the force of contraction of the myocyte, whose weakness is compensated with progressive hypertrophy and disarray. However, it is unclear whether in the most incipient forms, that is, first years of life, the lack of these phenotypes still confers a risk of arrhythmogenesis. The main goal of the present study is to wonder whether genetic defects in the sarcomeric proteins, previously associated with HCM, could be responsible for SIDS. We have analysed 286 SIDS cases for the most common genes implicated in HCM in adults. A total of 680 mutations localised in 16 genes were analysed by semi-automated matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDITOF-MS) using the Sequenom MassARRAY(?) System. Ten subjects with completely normal hearts showed mutated alleles at nine of the genetic variants analysed, and one additional novel mutation was detected by conventional sequencing. Therefore, a genetic mutation associated with HCM may cause sudden cardiac death in the absence of an identifiable phenotype.