A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.

Globally, autosomal recessive IFNAR1 deficiency is a rare inborn error of immunity underlying susceptibility to live attenuated vaccine and wild-type viruses. We report seven children from five unrelated kindreds of western Polynesian ancestry who suffered from severe viral diseases. All the patients are homozygous for the same nonsense IFNAR1 variant (p.

Sudden cardiac deaths have higher proportion of left stellate ganglionitis.

One of the hypothesized mechanisms of sudden cardiac death in humans is an arrhythmia precipitated by increased sympathetic outflow to a compromised heart. The stellate ganglia provide the main sympathetic innervation to the heart, where the left stellate ganglion appears to play a role in arrhythmogenesis. Case reports of sudden cardiac death have described left stellate ganglion inflammation but no larger studies have been performed.

Heart Weight Is an Independent Factor Associated With, But Is a Poor Predictor for, Sudden Cardiac Death.

An enlarged heart can cause electrical instability and impaired contractility, leading to fatal arrhythmia and acute heart failure, and is associated with sudden cardiac death. However, there is limited postmortem evidence on whether heart weight is an independent factor associated with sudden cardiac death. This 18-month retrospective study examined 108 adult heart weights in which all the hearts were weighed after dissection, blood and blood clots removed, rinsed in water, and pat dried.

The effects of drying the rinsed dissected heart on postmortem heart weight.

Blood and blood clots should be removed from the heart chambers before being weighed. The actual method in removing blood and blood clots may vary and can include manual removal with subsequent rinsing the heart in water. It is unclear whether drying the rinsed heart affects the heart weight.

Stellate ganglionitis in sudden cardiac death: A case report.

Sudden cardiac death (SCD) is the most common natural cause of death. The hypothesized mechanism of death is an arrhythmia precipitated by increased sympathetic outflow. The left stellate ganglion provides sympathetic innervation to the heart and plays a role in arrhythmogensis.

A 5-Year Retrospective Study on Infant Homicide Presenting as Cot Death: Are We Missing Infant Homicides?

Being found dead in cot or bed is the most common presentation encountered with infant deaths. These deaths are often associated with unsafe sleep environment. The postmortem examination in such cases is often negative, and along with family objections, cultural, and other factors, may lead to a coroner considering not authorizing a postmortem examination.

Terminal Ileum Perforation: A Rare Complication of Verocytotoxigenic Escherichia coli Infection in an Adult With Prader-Willi Syndrome.

Intestinal perforation is an uncommon complication and presentation of verocytotoxigenic Escherichia coli (VTEC) infection in individuals with Prader-Willi syndrome (PWS). The common site of perforation from VTEC infection is in the colon (and almost exclusively in the pediatric population), whereas PWS is in the stomach. Terminal ileum perforation is uncommon and is not reported in either these 2 conditions.

Classifying Microscopic Acute and Old Myocardial Infarction Using Convolutional Neural Networks.

Convolutional neural network (CNN) has advanced in recent years and translated from research into medical practice, most notably in clinical radiology and histopathology. Research on CNNs in forensic/postmortem pathology is almost exclusive to postmortem computed tomography despite the wealth of research into CNNs in surgical/anatomical histopathology. This study was carried out to investigate whether CNNs are able to identify and age myocardial infarction (a common example of forensic/postmortem histopathology) from histology slides.

Levels of haemolysis have no effect on femoral vein post-mortem tryptase levels.

Haemolysis is reported to be an artefact that may alter post-mortem tryptase levels. However, previous studies did not sample peripheral blood using newly standardised methods. Recent studies have shown that some previously recognised peri- and post-mortem confounders can be muted by careful sample collection with first clamping and then sampling the femoral vein.

Hemorrhagic Pseudocyst: A Rare Cerebral Mass Lesion Causing Death. A Case Report and Brief Review of Literature.

Mass lesions in the brain encompass a wide range neoplastic and nonneoplastic entities. These can present as a diagnostic pitfall, with nonspecific, overlapping symptoms and similar appearances on radiology. They may cause death through varied mechanisms, either specific to the underlying pathophysiology or due to the space-occupying effect of the lesion.

Identifying gross post-mortem organ images using a pre-trained convolutional neural network.

Identifying organs/tissue and pathology on radiological and microscopic images can be performed using convolutional neural networks (CNN). However, there are scant studies on applying CNN to post-mortem gross images of visceral organs. This proof-of-concept study used 537 gross post-mortem images of dissected brain, heart, lung, liver, spleen, and kidney, which were randomly divided into a training and teaching datasets for the pre-trained CNN Xception.

Differences Between Central and Peripheral Postmortem Tryptase Levels.

Postmortem tryptase is a commonly used biochemical test to aid in the diagnosis of fatal anaphylaxis, which is currently recommended to be sampled from peripheral (femoral) veins because of a research showing comparatively elevated levels from central blood sources. Previous studies have used nonstandardized or nondocumented sampling methods; however, more recent research demonstrates that tryptase levels may vary depending on the sampling method. This study used the recommended sampling method of aspirating the femoral vein after clamping and compared in a pairwise comparison with aspiration of central venous and arterial blood sources (inferior vena cava and aorta) in 2 groups of 25 nonanaphylactic deaths.

An outbreak of deaths associated with AMB-FUBINACA in Auckland NZ.

Background: AMB-FUBINACA is a synthetic cannabinoid that has been associated with periodic outbreaks of acute poisonings, but few fatalities. In late May, June and July 2017 Auckland, New Zealand, experienced an outbreak of deaths associated with AMB-FUBINACA that continued at a rate of about 2-3 per month through February 2019. The aim of this study was to define the demographic, circumstantial, pathological and toxicological characteristics of this outbreak.

Combining Postmortem Cerebrospinal Fluid Biochemistry With Lung-to-Body Ratio to Aid the Diagnosis of Salt Water Drowning.

Diagnosing drowning as a cause of death can pose many challenges for the forensic pathologist and a number of ancillary tests have been proposed to assist in the diagnosis, whether the body was in salt water or fresh water. Although elevated vitreous humor sodium and chloride is a reliable marker, its limitation to prolonged immersion has resulted in the recent investigation of cerebrospinal fluid (CSF) sodium and chloride as alternative matrix in cases of longer or unknown immersion times. This study investigated postmortem CSF from lumbar puncture (CSF_L_Na_Cl) and ventricular aspiration (CSF_Vent_Na_Cl), as well as lung/body (LB) ratio in the diagnosis of salt water drowning and performed comparison and combination testing of methods to improve diagnostic accuracy of the drowning diagnosis.

Identifying Fatal Head Injuries on Postmortem Computed Tomography Using Convolutional Neural Network/Deep Learning: A Feasibility Study.

Postmortem computed tomography (PMCT) is a relatively recent advancement in forensic pathology practice that has been increasingly used as an ancillary investigation and screening tool. One area of clinical CT imaging that has garnered a lot of research interest recently is the area of "artificial intelligence" (AI), such as in screening and computer-assisted diagnostics. This feasibility study investigated the application of convolutional neural network, a form of deep learning AI, to PMCT head imaging in differentiating fatal head injury from controls.

Ventricular Weight Increases Proportionally With Total Heart Weight in Postmortem Population.

Heart weight is routinely measured at postmortem examination and is critical to determine whether the heart is enlarged (ie, cardiomegaly). Cardiomegaly has the potential to cause sudden death by being electrically unstable, resulting in fatal arrhythmias. The majority of fatal cardiac arrhythmias is ventricular in origin and is assumed that ventricular size is disproportionately larger in cardiomegaly.

Significant Differences in PostMortem Heart Weight Before and After Dissection Using the Short-Axis Dissecting Method.

Correctly assessing heart weight can be critical at postmortem examination. The current international guidelines advocate using the short-axis method in dissecting the heart and the heart weighed when the blood is emptied. However, it did not specify at what point the heart should be weighed or how the blood should be emptied.

Ruptured Esophageal Varices From Metastatic Tumor in the Liver: A Case Report and Brief Review of Literature.

Ruptured esophageal varices can present as sudden death from gastrointestinal hemorrhage. The most common underlying pathology causing esophageal varices is cirrhosis leading to portal hypertension. However, not all esophageal varices arise from portal hypertension, and not all portal hypertensions are caused by cirrhosis.