Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports.

Sudden unexpected death in infants (SUDI) is a traumatic event for families, and unfortunately its occurrence remains high in many parts of the world. Whilst cause of death is resolved for most cases, others remain undetermined following postmortem investigations. There has been a recognition of the role of genetic testing in unexplained cases, where previous studies have demonstrated the resolution of cases through DNA analyses. Here we present two case reports of SUDI cases admitted to Salt River Mortuary, South Africa, and show that underlying causes of death were determined for both infants using clinical exome sequencing. The first infant was heterozygous for a variant (rs148175795) in COL6A3, which suggested a bronchopulmonary dysplasia phenotype. This hypothesis led to finding of a second candidate variant in DMP1 (rs142880465), which may contribute towards a digenic/polygenic mechanism of a more severe phenotype. Histological analysis of retained tissue sections showed an asphyxial mechanism of death, where bronchiolar muscle weakness from an underlying bronchopulmonary dysplasia may have contributed to the asphyxia by affecting respiration. In the second infant, a homozygous variant (rs201340753) was identified in MASP1, which was heterozygous in each parent, highlighting the value of including parental DNA in genetic studies. Whilst mannose-binding lectin deficiency could not be assessed, it is plausible that this variant may have acted in combination with other risk factors within the triple-risk model to result in sudden death. These results may have genetic implications for family members, and represent possible new candidate variants for molecular autopsies.

Intimate partner violence during pregnancy and its association with birth asphyxia in hospitals of Tigray region, Ethiopia.

BACKGROUND: Birth asphyxia is the main cause of neonatal mortality and morbidity worldwide. Some studies indicate intimate partner violence during pregnancy is a risk factor for birth asphyxia. In Ethiopia, intimate partner violence during pregnancy is reported to be high. Despite this high prevalence, there is a lack of data about the association of birth asphyxia and intimate partner violence. The aim of this study was to assess the prevalence of intimate partner violence during pregnancy and its associated factors with birth asphyxia in health facilities in the Tigray region of northern Ethiopia. METHODS: This was an institutional-based cross-sectional study conducted at select health facilities in the Tigray region of Ethiopia. Random sampling technique was employed to select health facilities and systematic sampling was used to select 648 study participants. Data was entered by using Epi info version 3.5.1 and was analyzed using SPSS version 20. Bivariate and multivariate analysis was done to assess the association between exposure to intimate partner violence during pregnancy and birth asphyxia after adjusting for possible confounders. RESULTS: The prevalence of intimate partner violence during pregnancy was 47(7.3%). Eighty two (12.7%) babies were delivered with birth asphyxia. Intimate partner violence during pregnancy had a significant association with birth asphyxia, AOR (95% CI) = 4.4(2-9.8). In addition to this, other factors that were associated with birth asphyxia include place of residence [ AOR (95% CI) = 2.7(1.55-4.8)], age > 19 [AOR (95% CI) = 2.9(1.29-6.5)], age 20-35 [AOR (95% CI) = 3.1(1.06-9.3)], gestational age < 37 weeks [AOR(95% CI) = 7.2(3.5-14.8)] and low birth weight [AOR(95% CI) = 3.9(2.1-7.3)]. CONCLUSIONS: The prevalence of birth asphyxia in this study is high and is further increased by intimate partner violence during pregnancy. Health care providers and policy makers should take measures aimed at preventing intimate partner violence during pregnancy to reduce harm to the mother and adverse birth outcomes.

A Possible Mechanism of Laryngohyoid Fractures in Hanging: A Preliminary Observation.

ABSTRACT: Fractures of the hyoid bone, particularly the greater horns, and thyroid cartilage (superior horns) are known to be associated with hanging deaths. Depending on the literature, the frequency of these fractures varies from 0% to 83%. The mechanism underlying these fractures is believed to be direct compression or indirect traction from the ligature. The relationship of these structures with the cervical spine cannot be visualized with traditional internal examination, due to obstruction by surrounding soft tissue. Postmortem computed tomography scan offers an unobscured view of the relationship of the laryngohyoid structures with the cervical spine.We aim to illustrate the phenomenon of displacement of the laryngohyoid structures associated with fractures of the horns. In our case reports, the laryngohyoid structures were displaced, not only superiorly and posteriorly, but also in 2 of the cases, by tilting, when the suspension point was at the posterior or posterolateral aspect of the neck. This displacement had caused the greater horns of the hyoid bone and superior horns of the thyroid cartilage to be approximated against the cervical spine, particularly the transverse processes. We believe that, in these circumstances, the fractures were caused by pressure of the horns of the laryngohyoid structures against the cervical spine.

Characteristics of Fatal Accidents due to Exogenous Causes at Ski Resorts in Japan Over the Past 13 Years: A Retrospective Descriptive Study.

INTRODUCTION: The characteristics of ski- and snowboard-related fatalities at Japanese ski resorts remain unknown. We aimed to analyze the characteristics of this in the current study. METHODS: Using the Ski Resort Injury Report data for the 13-y period between the 2011-12 and 2022-23 seasons, we described the characteristics of fatal accidents due to exogenous causes. RESULTS: Eighty-four subjects (48 skiers and 36 snowboarders) were analyzed. Males accounted for 73 cases of all 84 fatalities (86.9%), including 44 skiers (91.7%) and 29 snowboarders (80.6%). Skiers aged ≥50 y and snowboarders aged 20-35 y had the highest number of fatal accidents (32 and 18 cases, respectively). Regarding location, 26 fatal accidents occurred on slopes, and 58 occurred out of slopes (skiers, 11 and 37 cases; snowboarders, 15 and 21 cases, respectively). Among skiers, head and neck trauma accounted for the cause of death in 13 cases (27.1%) and asphyxiation in 11 cases (22.9%). Among snowboarders, head and neck trauma accounted for the cause of death in 14 cases (38.9%) and asphyxiation in 14 cases (38.9%). CONCLUSIONS: Males, particularly those aged ≥50 among skiers and 20-35 among snowboarders, should be wary of the potential for injuries to the head, neck, and airway when skiing or snowboarding. In this study, traumatic deaths from crashing into trees and asphyxiation from deep snow immersion accidents accounted for approximately half of fatal ski accidents in Japan.

Significance of Contusion at the Vocal Cord and Perivocal Cord Area in Cases of Non-intubated Death.

Every finding during a neck autopsy may be essential for accurately diagnosing and explaining the mechanism of death. In this prospective study in the Department of Forensic Medicine and Toxicology of Jordan University Hospital, 17 out of 95 neck autopsies revealed contusions of the laryngeal mucosa in the vocal or perivocal area. These contusions were found to be associated with various causes of death, including mechanical asphyxia (such as throttling, ligature strangulation, hanging, smothering, choking, plastic bag asphyxia, gagging, and inhalation of blood) and other causes (such as atypical drowning, carbon monoxide poisoning, head injury due to a road traffic accident, burns, electrocution, and brain edema). This study provides insight into the mechanisms of this important lesion and may contribute to a better understanding of the cause of death.

Positional asphyxia: accidental death due to head-down position in a badger sett.

Death from positional asphyxia occurs when the victim is found in a position that interferes with adequate breathing. We present an unusual case of a 67-yearold man who was found deceased trapped in a badger sett. The autopsy revealed marked congestion, cyanosis and a multitude of pinpoint hemorrhages in the face, neck and upper chest. Confluent scleral and conjunctival hemorrhage were observed and numerous petechial bleedings were found in the oral mucosa and within the reflected scalp. Death was attributed to positional asphyxia due to head-down position in a badger sett.

Avalanche fatalities in Czech Republic: a 23-years retrospective study.

Avalanche fatalities are quite rare in the Czech Republic. Due to the presence of avalanche fields in the two Czech mountains, forensic pathologists at some forensic medicine departments may encounter this specific mechanism of accidental death. The authors summarize medicolegal aspects of deaths in avalanches in the territory of the Czech Republic for the twenty-three-year period between 1993-2015. Ten avalanche fatalities were recorded during study period. The studied group consisted of nine male and one female victims. The average age of the deceased was 27.9 years. Skiers or ski-alpinists died in the avalanche in five cases (50%), climbers in two cases (20%), snowboarders in one case (10%), cross-country skiers in one case (10%) and in one case it was a fatality of child playing on a snowy hill (10%). The cause of death was suffocation in four cases (40%), blunt trauma in four cases (40%), and in the remaining two cases it was the survival of trapped persons several hours after being rescued from the avalanche in the hospital; both victims subsequently died as a result of prolonged shock (20%) due to a combination of prolonged suffocation and hypothermia. The time interval from the fall of the avalanche to the rescue of the trapped person was in the range of minutes to 3 hours. The presence of alcohol or drugs was not detected in any studied case.

[Mechanical asphyxia in the structure of violent death in the Russian Federation from 2013 to 2022 years]. / Mekhanicheskaya asfiksiya v strukture nasil'stvennoi smerti v Rossiiskoi Federatsii s 2013 po 2022 g.

The objective of the study is to examine the death incidence from mechanical asphyxia in the Russian Federation in the period from 2013 to 2022 yr., to determine the dynamics of changes in indicators of its main types and to reveal territorial specificity. The results obtained with the use of medical statistics methods can be applied to implement measures for health protection, prevent risk factors of fatal outcome among population, to improve the training of forensic medical experts.

Suspension-associated dislocation of the jaw in hanging.

Hanging is a common type of death, and the role of the medical investigation of such deaths by a forensic pathologist not only requires the determination of the cause of death but providing information to assist in the determination of the manner of death. The forensic pathologist should be well versed in the spectrum of injuries known to be associated with neck compression, to document injuries known to be associated with hanging, but also to identify those that are inconsistent with self-inflicted hanging or that may suggest the involvement of a third party in the death. Comprehensive identification and correct interpretation of external and internal injury are crucial for the appropriate degree of police and coroner/medical examiner investigation. We present two cases of deaths believed to be caused by self-inflicted hanging that were observed to have unexpected unilateral dislocation of the temporomandibular joint identified on routine post-mortem computed tomography, without any evidence of involvement of a third party. This injury was unexplained and had not been previously observed at our Forensic Institute nor was it identified after a review of the published biomedical research literature. Issues regarding the cause of this abnormality, possible mechanisms, and the medicolegal significance of this finding will be discussed.

[The arrest-related excited delirium syndrome; prevention, treatment and controversies]. / Het opwindingsdelier bij gewelddadige arrestatie: preventie, behandeling en controverses.

BACKGROUND: Patients with an acute confusional state can develop a potentially life-threatening medical emergency when arres­ted by police. This phenomenon has been named the excited delirium syndrome. Controversy regarding this topic has arisen both in the medical literature and in the civil media. AIM: To provide an overview regarding the pathophysiological, epidemiological and clinical aspects of the excited delirium syndrome, the controversy and the opportunities for prevention of a fatal outcome. METHOD: A systematic review of the literature from 1985 to 2021. RESULTS: We included 103 studies in our review. The excited delirium syndrome occurs predominantly in young, physically healthy men who are under the influence of drugs or a psychiatric illness. Several pathophysiological theories exist: the dopaminergic and catecholaminergic hypotheses and restraint asphyxia. There is controversy both in the medical scientific discourse and in the civil media regarding the existence of this syndrome and the cause of death. There are suggestions that mortality can be decreased by timely recognition, de-escalation and medical treatment. CONCLUSION: The excited delirium syndrome is a medical emergency that can arise during physical arrest of patients with a drugs intoxication or psychiatric illness. Improved collaboration between mental health care professionals and police could prevent fatal outcomes.

Research Progress on Molecular Changes in Pulmonary Hypoxia and Cause of Death Identification in Mechanical Asphyxia.

Lung is the largest organ of the respiratory system. During hypoxia, pulmonary cells undergo rapid damage changes and activate the self-rescue pathways, thus leading to complex biomacromolecule modification. Death from mechanical asphyxia refers to death due to acute respiratory disorder caused by mechanical violence. Because of the absence of characteristic signs in corpse, the accurate identification of mechanical asphyxia has always been the difficulty in forensic pathology. This paper reviews the biomacromolecule changes under the pulmonary hypoxia condition and discusses the possibility of application of these changes to accurate identification of death from mechanical asphyxia, aiming to provide new ideas for related research.

[Forensic medical characteristic of hanging incidents among juvenile]. / Sudebno-meditsinskaya kharakteristika sluchaev povesheniya sredi nesovershennoletnikh.

THE AIM OF THE STUDY: Was to conduct the epidemiological analysis of juveniles' deaths by hanging, registered in the Bureau of Forensic Medical Expertise, Moscow for 2017-2021 years. The number of incidents equal 61 was revealed (2.65% of whole hanging incidents for the researched period). The amount of hanging deaths among juveniles and their percent in the total quantity of deaths from this type of strangulated asphyxia increased in 2017, 2018 and 2019 years to 8 (1.6%), 15 (3.1%) and 18 (3.6%) incidents respectively; decreased in 2020 year to 7 (1.7%) incidents and increased again in 2021 year to 13 (3.0%) incidents. Juveniles died by hanging were mostly male (73.8%) aged from 15 to 18 years (63.9%). The median age for girls was 16 years (IQR 15.0-16.75) and for boys 15 years (IQR 13.0-16.5). Most of juveniles' corps were found in their place of residence: in apartments or residential houses (the whole number was 49 or 80.4%). Generally, juvenile hanging occurred between November and January (36.1% of all incidents) and in April (11.5%); less frequently were in February (1.6%), June and July (9.8%). Alcohol was found in blood of 18.2% juveniles aged from 15 to 18.

Intracerebral and subarachnoid hemorrhage after suicidal "near-hanging".

Hanging is one of the most common methods of attempting suicide with a fast occurring death and a high lethality rate. Depending on how fast the hanged individuals are found, they may be rescued, which is referred to as "near-hanging." Whilst hypoxic and ischemic brain damage are common findings in hanging, intracranial hemorrhages seem to be a rare occurrence. To the authors' knowledge, this is the first autopsy case report of an intracerebral and subarachnoid hemorrhage in a delayed death after incomplete hanging. We hypothesize that the combination of two mechanisms is involved in the development of such hemorrhages. First, the persistent venous hypertension during incomplete hanging causing endothelial damage resulting in vascular leakage. Second, the reperfusion of the brain due to recovery of venous blood return after the release form the rope. Whereas intracranial hemorrhage is not a common finding in daily autopsy cases of fatal hanging, it might be a severe complication in rescued cases.

Magnitude of birth asphyxia and its associated factors among live birth in north Central Ethiopia 2021: an institutional-based cross-sectional study.

BACKGROUND: The leading cause of neonatal death worldwide is birth asphyxia. Yearly, in the first month of life, 2.5 million children died around the world. Birth asphyxia is a major problem, particularly in developing nations like Ethiopia. The goal of this study was to determine the magnitude of birth asphyxia and the factors that contributed to it among neonates delivered at the Aykel Primary Hospital in north-central Ethiopia. METHODS: From August 1 to August 31, 2021, a hospital-based cross-sectional study was conducted on 144 live births. An Apgar score less than 7 in the fifth minute of birth authorized the diagnosis of birth asphyxia. Variable contention (P < 0.250) for multivariable analysis was determined after data examination and cleaning. Then, to identify important factors of birth asphyxia, a multivariable logistic regression model with a p-value of 0.05 was developed. Finally, a significant relationship between a dependent variable and independent factors was defined as a p-value less than 0.05 with a 95% confidence interval. RESULTS: The majority of the mothers, 71.53%, received at least one Antenatal care visit, and more than half of the newborns were male (62.50%). The percentage of neonates that had asphyxia at delivery was 11.11% (95% CI: 6.3 -16.9%). Male newborns were 5.02 times more probable than female newborns to asphyxiate [AOR: 5.02, 95% CI (1.11-22.61)]. Mothers who have not had at least one Antenatal Care visit were 3.72 times more likely to have an asphyxiated newborn than those who have at least one Antenatal Care visit [AOR: 3.72, 95%CI (1.11-12.42)]. Similarly, mothers who had an adverse pregnancy outcome were 7.03 times more likely to have an asphyxiated newborn than mothers who had no such history [AOR: 7.03, 95% CI (2.17-22.70)]. CONCLUSION: Birth asphyxia in newborn has come to a standstill as a major public health issue. The sexual identity of the newborn, Antenatal Care visits, and a history of poor pregnancy outcomes were all found to be significant risk factors for birth asphyxia. These findings have great importance for various stakeholders who are responsible for reducing birth asphyxia; in addition, policymakers should establish and revise guidelines associated to newborn activities and workshops.

The neuropsychological outcomes of non-fatal strangulation in domestic and sexual violence: A systematic review.

This systematic review draws together evidence from the literature for the pathological, neurological, cognitive, psychological, and behavioural outcomes of non-fatal strangulation in domestic and sexual violence. A systematic search of PubMed, PsycINFO, CINHAL, Proquest, ASSIA, Web of Science, WestLaw, Open Grey, and Ethos was conducted, with no date limits set, to identify eligible studies. Thirty empirical, peer-reviewed studies were found which met the inclusion criteria. Pathological changes included arterial dissection and stroke. Neurological consequences included loss of consciousness, indicating at least mild acquired brain injury, seizures, motor and speech disorders, and paralysis. Psychological outcomes included PTSD, depression, suicidality, and dissociation. Cognitive and behavioural sequelae were described less frequently, but included memory loss, increased aggression, compliance, and lack of help-seeking. However, no studies used formal neuropsychological assessment: the majority were medical case studies or based on self-report. Furthermore, few authors were able to control for possible confounds, including other physical violence and existing psychosocial difficulties. There is therefore a need for further neuropsychological research, focusing on cognitive and behavioural outcomes, using standardized tools, and control groups where possible. This is urgent, given societal normalization of strangulation, and legal systems which often do not reflect the act's severity and its consequences.

Suicide by Gaseous Displacement of Atmospheric Oxygen With Carbon Dioxide From Dry Ice Sublimation.

ABSTRACT: Deaths from gaseous substances can occur from exposure to toxic gases or from accumulation of nontoxic gases that displace oxygen. We present a 38-year-old man with no known medical history, who was found deceased in a small bathroom with blankets and towels shoved under the door from the inside.At autopsy, the decedent was found to be in a moderate state of decomposition. There was mild pulmonary congestion, with no other significant findings. Standard postmortem toxicology on femoral blood was noncontributory.A search of the decedent's cell phone revealed statements and internet searches regarding carbon dioxide (CO 2 ) and asphyxia using dry ice. A journal entry also outlined a suicide plan using large amounts of dry ice, which was enacted by placing a laundry basket of dry ice into a bathtub containing water. Based on the investigation, the cause of death was determined to be asphyxia from displacement of oxygen with CO 2 .Dry ice sublimates into gaseous CO 2 , which quickly accumulates, with concentrations of 10% or more, rapidly becoming life-threatening. There are no pathognomonic autopsy findings seen in CO 2 -related asphyxia. In these circumstances, scene investigation is the most important factor in determining cause of death.

Autoerotic Death by Electrocution: An Atypical Case Study.

ABSTRACT: Autoerotic death is defined as an accidental death that occurs when some type of apparatus is used to enhance sexual stimulation and causes an unintended death. We present the case of an atypical autoerotic death of a 23-year-old man found deceased in a bathroom. An electrical cord with a standard wall plug on one end and exposed wires twisted into loops on the other end was on the floor near his body. Minute black burns were present on each nipple. The outlet was protected by a ground fault circuit interrupter that was demonstrated to be in working order. An electrical consultant concluded that the cause of death could not be electrocution. Ground fault circuit interrupters work by detecting differences in current within a circuit. If a ground fault occurs, the circuit is broken to prevent a fatal electrocution. In the present case, the ground fault circuit interrupter did not shut off because the decedent had wired himself in parallel with the circuit. This, with the other scene findings, indicated this to be a case of atypical autoerotic death. Autoerotic deaths by means other than asphyxiation are rare. This case serves to illustrate the circumstances of an atypical autoerotic death by means of electrocution.

Two Cases of Fatal Inhalation of Easily Available "Recreational" Substances.

ABSTRACT: We present 2 cases of fatal inhalation of easily available highly volatile substances that occurred in a recreational context. Case 1 concerns an 18-year-old man who was found dead with a 25-L plastic bag pulled over his head and a whipped cream steel siphon connected to the bag. The deceased was known to previously have inhaled nitrous oxide. Autopsy results were unremarkable, toxicological analysis using static headspace gas chromatography coupled to mass spectrometry analysis proved the presence of nitrous oxide in lung tissue and blood. Asphyxiation was ascertained as the cause of death. Case 2 describes the death of a 54-year-old man found dead on his bed wearing a rubber gas mask. A bottle with ethyl chloride-containing cold spray was found beside him. Autopsy did not reveal relevant pathological findings; a subsequent toxicological analysis proved the presence of ethyl chloride. Respiratory arrest because of ethyl chloride inhalation was established as the cause of death. The 2 cases presented here demonstrate the danger of easily available, volatile substances with a high potential for abuse. A careful investigation of the death scene, proper specimen collection during the autopsy, and extensive toxicological tests, including headspace gas chromatography coupled to mass spectrometry analysis, are necessary to prove inhalation of these substances.

Entrapment within an ottoman storage bed: an unusual accidental asphyxial death.

Herein, we present an uncommon forensic case of death by asphyxia. The victim was a woman whose body at death scene investigation (DSI) was discovered beside an ottoman storage bed. According to the rescue team, who had moved the body before our arrival, the body was originally found in the prone position and stuck with the neck, thorax and arms within the bed. Examination of the body showed hypostasis that was mainly distributed to the face and the lower chest while sparing the neck and the upper chest. The face was markedly swollen, and the eyes were congested with blood. Dissection and histology revealed pulmonary oedema and emphysema of both lungs. Integrating circumstantial, radiology and autopsy data, it was established that the victim, while trapped between the mattress and the edge of the ottoman storage bed, died by mechanical asphyxia due to cervical-thoracic compression and postural asphyxia acting simultaneously.

Multiple forms of suffocation used in double murder.

This paper presents a case of double murder in which different mechanisms of suffocation, involving smothering, burking, and manual strangulation, were used. The victims are usually elderly people with disabilities and social isolation. The cases described here involve two women who were disabled and were murdered through blockage of the airway. Even though similar suffocating mechanisms were used in the murders, the autopsy findings differed between the two cases. This difference between the two can be explained by a preexisting medical condition that the younger victim had, which was quadriplegia resulting from cerebral hemorrhage, which limited herself-defense ability.