Pub Date : 2022-12-01DOI: 10.1177/19253621221142480
John Martin Corkery, Fabrizio Schifano
Background: 4-Fluoroethylphenidate (4F-EPH) is a psychoactive substance, sold primarily over the Internet as a `research chemical'. Recreational and `functional' use of this drug has been reported by online user fora. Scientifically-based data on the pharmacological, physiological, psychopharmacological, toxicological, and epidemiological characteristics of this molecule is non-existent. The aim of this paper is to remedy this situation.
Methods: Recent literature (including 'grey') was searched to update what is known about 4F-EPH, especially its toxicity. This was supplemented by netnographic examinations of internet sites.
Results: The resultant information is presented, including details of the first reported death involving 4F-EPH use in 2016. There are no international controls imposed on 4F-EPH. However, it has been made a controlled drug in several European countries, including the United Kingdom since 31 May 2017, as well as Canada.
Conclusions: It is vital that any other cases, including non-fatal overdoses, are documented so that a firmer scientific evidence-base can be established for this molecule. This will then help inform clinical practice.
{"title":"First Death Involving 4-Fluoroethylphenidate (4F-EPH): Case Report, User Experiences, and Review of the Related Literature.","authors":"John Martin Corkery, Fabrizio Schifano","doi":"10.1177/19253621221142480","DOIUrl":"10.1177/19253621221142480","url":null,"abstract":"<p><strong>Background: </strong>4-Fluoroethylphenidate (4F-EPH) is a psychoactive substance, sold primarily over the Internet as a `research chemical'. Recreational and `functional' use of this drug has been reported by online user fora. Scientifically-based data on the pharmacological, physiological, psychopharmacological, toxicological, and epidemiological characteristics of this molecule is non-existent. The aim of this paper is to remedy this situation.</p><p><strong>Methods: </strong>Recent literature (including 'grey') was searched to update what is known about 4F-EPH, especially its toxicity. This was supplemented by netnographic examinations of internet sites.</p><p><strong>Results: </strong>The resultant information is presented, including details of the first reported death involving 4F-EPH use in 2016. There are no international controls imposed on 4F-EPH. However, it has been made a controlled drug in several European countries, including the United Kingdom since 31 May 2017, as well as Canada.</p><p><strong>Conclusions: </strong>It is vital that any other cases, including non-fatal overdoses, are documented so that a firmer scientific evidence-base can be established for this molecule. This will then help inform clinical practice.</p>","PeriodicalId":36813,"journal":{"name":"Academic Forensic Pathology","volume":"12 4","pages":"149-166"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9761242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10411645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-12-01Epub Date: 2022-12-15DOI: 10.1177/19253621221142473
María J Prados, Thomas Baker, Audrey N Beck, D Brian Burghart, Richard R Johnson, David Klinger, Kyla Thomas, Brian Karl Finch
Introduction: In the United States, each state sets its own standards for its death investigation system. These may require independent medical examiners and coroners or allow for the sheriff to assume the role of coroner. Motivated by the well-established fact that counts of officer-involved homicides in official data sets grossly undercount the number of these incidents, we examine the possibility that different death investigation systems may lead to different death classification outcomes.
Methods: To examine the potential differences in officer-involved homicide underreporting by presence of sheriff-coroner and violent death type (gunshot, intentional use of force, pursuit, or other vehicle accident), we compare ratios of incidents from both the Federal Bureau of Investigation's Supplementary Homicide Reports and the restricted Multiple-Cause of Death files from the National Vital Statistics System to the Fatal Encounters data across coroner contexts in California between 2000 and 2018; we quantify differences descriptively and examine bivariate tests of means.
Results: We find significantly greater underreporting of officer-involved deaths in sheriff-coroner counties in both official data sets for all incidents compared with non-sheriff-coroner counties, independently of the period considered. These underreporting differences in the National Vital Statistics System are robust to restricting to gunshot and intentional use of force deaths, the type of incident expected to be less prone to misclassification in that data set.
Conclusions: Officer-involved death underreporting in sheriff-coroner counties necessitates further scrutiny. Disparities in officer-involved death reporting suggest political pressure may play a role in classifying deaths.
{"title":"Do Sheriff-Coroners Underreport Officer-Involved Homicides?","authors":"María J Prados, Thomas Baker, Audrey N Beck, D Brian Burghart, Richard R Johnson, David Klinger, Kyla Thomas, Brian Karl Finch","doi":"10.1177/19253621221142473","DOIUrl":"10.1177/19253621221142473","url":null,"abstract":"<p><strong>Introduction: </strong>In the United States, each state sets its own standards for its death investigation system. These may require independent medical examiners and coroners or allow for the sheriff to assume the role of coroner. Motivated by the well-established fact that counts of officer-involved homicides in official data sets grossly undercount the number of these incidents, we examine the possibility that different death investigation systems may lead to different death classification outcomes.</p><p><strong>Methods: </strong>To examine the potential differences in officer-involved homicide underreporting by presence of sheriff-coroner and violent death type (gunshot, intentional use of force, pursuit, or other vehicle accident), we compare ratios of incidents from both the Federal Bureau of Investigation's Supplementary Homicide Reports and the restricted Multiple-Cause of Death files from the National Vital Statistics System to the Fatal Encounters data across coroner contexts in California between 2000 and 2018; we quantify differences descriptively and examine bivariate tests of means.</p><p><strong>Results: </strong>We find significantly greater underreporting of officer-involved deaths in sheriff-coroner counties in both official data sets for all incidents compared with non-sheriff-coroner counties, independently of the period considered. These underreporting differences in the National Vital Statistics System are robust to restricting to gunshot and intentional use of force deaths, the type of incident expected to be less prone to misclassification in that data set.</p><p><strong>Conclusions: </strong>Officer-involved death underreporting in sheriff-coroner counties necessitates further scrutiny. Disparities in officer-involved death reporting suggest political pressure may play a role in classifying deaths.</p>","PeriodicalId":36813,"journal":{"name":"Academic Forensic Pathology","volume":"12 4","pages":"140-148"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9761243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9194847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lysoform® in the formulation of professional detergent is widely used in several fields, whereas its suicidal ingestion is an unusual occurrence. Therefore, the biological signs of this fatal poisoning remain unclear and elusive, similarly to the histological lesions induced by its main constituent, which is benzalkonium chloride (BZK). Furthermore, since all the deaths that has been reported in the literature occurred immediately, microscopic pictures of BZK lethal toxicity in subjects with prolonged survival have never been reported to date. Specifically, this brief communication reports the unique case of a woman who ingested professional Lysoform® to commit suicide, for which she died two weeks later. The autopsy examination showed either local or systemic signs of caustic ingestion; moreover, the histological analysis showed clear cellular damage of lungs, heart, and kidneys. In our case, toxicological investigations were not authorized as they were no longer considered significant. In this framework, the histological examination has therefore assumed a fundamental role in investigating and demonstrating the lethal effects caused by the systemic dissemination of BZK, which would otherwise no longer be investigable. Therefore, in cases of substance intoxication with prolonged survival where forensic toxicological investigations may be no longer possible or feasible, the histological examination may be the only resource to successfully observe and demonstrate its lethal effects.
{"title":"Visceral Microscopic Pattern From Suicidal Ingestion of Professional Lysoform® With Delayed Death.","authors":"Stefano Tambuzzi, Guendalina Gentile, Salvatore Andreola, Arnaldo Stanislao Migliorini, Riccardo Zoja","doi":"10.1177/19253621221119081","DOIUrl":"https://doi.org/10.1177/19253621221119081","url":null,"abstract":"<p><p>Lysoform® in the formulation of professional detergent is widely used in several fields, whereas its suicidal ingestion is an unusual occurrence. Therefore, the biological signs of this fatal poisoning remain unclear and elusive, similarly to the histological lesions induced by its main constituent, which is benzalkonium chloride (BZK). Furthermore, since all the deaths that has been reported in the literature occurred immediately, microscopic pictures of BZK lethal toxicity in subjects with prolonged survival have never been reported to date. Specifically, this brief communication reports the unique case of a woman who ingested professional Lysoform® to commit suicide, for which she died two weeks later. The autopsy examination showed either local or systemic signs of caustic ingestion; moreover, the histological analysis showed clear cellular damage of lungs, heart, and kidneys. In our case, toxicological investigations were not authorized as they were no longer considered significant. In this framework, the histological examination has therefore assumed a fundamental role in investigating and demonstrating the lethal effects caused by the systemic dissemination of BZK, which would otherwise no longer be investigable. Therefore, in cases of substance intoxication with prolonged survival where forensic toxicological investigations may be no longer possible or feasible, the histological examination may be the only resource to successfully observe and demonstrate its lethal effects.</p>","PeriodicalId":36813,"journal":{"name":"Academic Forensic Pathology","volume":"12 3","pages":"118-125"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459401/pdf/10.1177_19253621221119081.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9983342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-01DOI: 10.1177/19253621221113190
Tracy S Halvorson, Timothy N Maxwell, Joseph M Laakman, Marina Ivanovic
Authors Tracy S. Halvorson MD, Department of Pathology, University of Iowa Hospitals and Clinics Roles: A, C, E, 1—Performed the autopsy examination, wrote the manuscript. Timothy N. Maxwell MD, Department of Pathology, University of Iowa Hospitals and Clinics Roles: C—Wrote the manuscript. Joseph M. Laakman MD, Department of Pathology, University of Iowa Hospitals and Clinics Roles: A, C—Performed the autopsy examination, wrote the manuscript. Marina Ivanovic MD, Department of Pathology, University of Iowa Hospitals and Clinics Roles: D, 4—Reviewed and edited the manuscript.
{"title":"Fatal Hemorrhagic Complications of Disseminated Adenovirus Infection.","authors":"Tracy S Halvorson, Timothy N Maxwell, Joseph M Laakman, Marina Ivanovic","doi":"10.1177/19253621221113190","DOIUrl":"https://doi.org/10.1177/19253621221113190","url":null,"abstract":"Authors Tracy S. Halvorson MD, Department of Pathology, University of Iowa Hospitals and Clinics Roles: A, C, E, 1—Performed the autopsy examination, wrote the manuscript. Timothy N. Maxwell MD, Department of Pathology, University of Iowa Hospitals and Clinics Roles: C—Wrote the manuscript. Joseph M. Laakman MD, Department of Pathology, University of Iowa Hospitals and Clinics Roles: A, C—Performed the autopsy examination, wrote the manuscript. Marina Ivanovic MD, Department of Pathology, University of Iowa Hospitals and Clinics Roles: D, 4—Reviewed and edited the manuscript.","PeriodicalId":36813,"journal":{"name":"Academic Forensic Pathology","volume":"12 3","pages":"112-117"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459397/pdf/10.1177_19253621221113190.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9851037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-01DOI: 10.1177/19253621221102039
Victor W Weedn
Often, medical staff and sometimes their attorneys mistakenly believe that HIPAA prevents disclosure of medical records to medical examiner and coroner offices. Medical examiner and coroner government offices are not covered entities. Moreover, HIPAA specifically allows disclosure to law enforcement, public health, and medical examiner and coroners. However, state and Joint Commission requirements may further impact disclosures.
{"title":"HIPAA and Access to Medical Information by Medical Examiner and Coroner Offices.","authors":"Victor W Weedn","doi":"10.1177/19253621221102039","DOIUrl":"https://doi.org/10.1177/19253621221102039","url":null,"abstract":"<p><p>Often, medical staff and sometimes their attorneys mistakenly believe that HIPAA prevents disclosure of medical records to medical examiner and coroner offices. Medical examiner and coroner government offices are not covered entities. Moreover, HIPAA specifically allows disclosure to law enforcement, public health, and medical examiner and coroners. However, state and Joint Commission requirements may further impact disclosures.</p>","PeriodicalId":36813,"journal":{"name":"Academic Forensic Pathology","volume":"12 3","pages":"83-89"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459398/pdf/10.1177_19253621221102039.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9697643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-01DOI: 10.1177/19253621221108622
Nicolas P Krebs, Lawrence Czarnecki
Methanol toxicity and its associated pathologies have been widely studied, however, at the beginning of the COVID-19 pandemic, there was an increase in methanol toxicity due to apparent consumption of contaminated hand sanitizer. We report a cluster of five deaths and one presumed death due to the apparent consumption of hand sanitizer, contaminated with methanol, in the setting of chronic alcoholism. The deaths occurred in Coconino County, Arizona, over a four-and-a-half-month period (June-October 2020), before and during a Food and Drug Administration recall of contaminated hand sanitizer. Methanol-related deaths are relatively uncommon in Coconino County, with only one methanol associated death (source of ingestion unknown) occurring over the previous five years.
{"title":"A Cluster of Five Deaths Due to Methanol Toxicity After Apparent Hand Sanitizer Ingestion in the Setting of Chronic Alcoholism.","authors":"Nicolas P Krebs, Lawrence Czarnecki","doi":"10.1177/19253621221108622","DOIUrl":"https://doi.org/10.1177/19253621221108622","url":null,"abstract":"<p><p>Methanol toxicity and its associated pathologies have been widely studied, however, at the beginning of the COVID-19 pandemic, there was an increase in methanol toxicity due to apparent consumption of contaminated hand sanitizer. We report a cluster of five deaths and one presumed death due to the apparent consumption of hand sanitizer, contaminated with methanol, in the setting of chronic alcoholism. The deaths occurred in Coconino County, Arizona, over a four-and-a-half-month period (June-October 2020), before and during a Food and Drug Administration recall of contaminated hand sanitizer. Methanol-related deaths are relatively uncommon in Coconino County, with only one methanol associated death (source of ingestion unknown) occurring over the previous five years.</p>","PeriodicalId":36813,"journal":{"name":"Academic Forensic Pathology","volume":"12 3","pages":"90-94"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459400/pdf/10.1177_19253621221108622.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9768504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Introduction: Intimate partner violence (IPV) is a common issue in any society and the reported cases are just the tip of an iceberg as most of the victims are reluctant to come to the criminal justice system. Forensic experts are often encountering the victims who chose to seek justice. Evaluation of the nature, consequences, and underlying factors are needed in planning preventive measures.
Objectives: To describe the patterns and associated factors of IPV among victims who reported to Office of the Judicial Medical Officer of Colombo North Teaching Hospital and to specifically describe the patterns prior and during the COVID-19 pandemic.
Methods: A retrospective descriptive study based on 471 medicolegal records of the victims who had undergone medicolegal examination following IPV during last two years (March 2019 to February 2021).
Results: Out of 471, 206 cases were reported prepandemic and 265 reported postpandemic periods. Even though majority were females there were 21 males. Types of abuse were complex and often interrelated. There were 463 who had experienced physical injuries while there were 20 who had been subjected to sexual violence. Face was the commonest target of assault (63%). Substance abuse was identified as the commonest predisposing factor (56%). Even though repeated abuse was common, 42.5% of the victims had never made any complaints to the police. Despite multiple complains, 39.7% had experienced repeated violence.
Conclusion: Victims of IPV are silently suffering for many long years. Failure in the response from authorities was identified. COVID-19 pandemic has become an additional risk factor for IPV. Strengthening of legal and social responses is the need of the hour.
{"title":"A Study on Victims of Intimate Partner Violence Reported to Colombo North Teaching Hospital, Sri Lanka During 2019-2021.","authors":"Thanushan Muthulingam, Patikirige Anuruddhi Samanthika Edirisinghe, Handun Pathirannehelage Wijewardhane, Yalini Thivaharan, Mudiyanselage Maleesha Sawaneeth Jayasundara, Nirmal Borukgama, Deshan Lakshitha Kulathunga, Dula Nuwanthi Alwis, Pawanthi Samudini Govinnage, Indira Deepthi Gamage Kitulwatte","doi":"10.1177/19253621221119074","DOIUrl":"https://doi.org/10.1177/19253621221119074","url":null,"abstract":"<p><strong>Introduction: </strong>Intimate partner violence (IPV) is a common issue in any society and the reported cases are just the tip of an iceberg as most of the victims are reluctant to come to the criminal justice system. Forensic experts are often encountering the victims who chose to seek justice. Evaluation of the nature, consequences, and underlying factors are needed in planning preventive measures.</p><p><strong>Objectives: </strong>To describe the patterns and associated factors of IPV among victims who reported to Office of the Judicial Medical Officer of Colombo North Teaching Hospital and to specifically describe the patterns prior and during the COVID-19 pandemic.</p><p><strong>Methods: </strong>A retrospective descriptive study based on 471 medicolegal records of the victims who had undergone medicolegal examination following IPV during last two years (March 2019 to February 2021).</p><p><strong>Results: </strong>Out of 471, 206 cases were reported prepandemic and 265 reported postpandemic periods. Even though majority were females there were 21 males. Types of abuse were complex and often interrelated. There were 463 who had experienced physical injuries while there were 20 who had been subjected to sexual violence. Face was the commonest target of assault (63%). Substance abuse was identified as the commonest predisposing factor (56%). Even though repeated abuse was common, 42.5% of the victims had never made any complaints to the police. Despite multiple complains, 39.7% had experienced repeated violence.</p><p><strong>Conclusion: </strong>Victims of IPV are silently suffering for many long years. Failure in the response from authorities was identified. COVID-19 pandemic has become an additional risk factor for IPV. Strengthening of legal and social responses is the need of the hour.</p>","PeriodicalId":36813,"journal":{"name":"Academic Forensic Pathology","volume":"12 3","pages":"95-111"},"PeriodicalIF":0.0,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459399/pdf/10.1177_19253621221119074.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10059734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-01DOI: 10.1177/19253621221102045
Zabiullah Ali, Nikki Mourtzinos
Intentional or accidental cardiothoracic injuries caused by needles and pins are rare and commonly reported in individuals with psychiatric conditions or intravenous drug users. Although rare, these cases could result in serious injury during the performance of an autopsy and highlight the importance of post-mortem radiology. Therapeutic complications with cardiac perforation have been reported due to pericardiocentesis and acupuncture. The majority of reported cases were not fatal and some had a prolonged asymptomatic period of weeks or even years after insertion. Needles or other sharp objects can reach the cardiovascular system directly through the chest wall, indirectly from any segment of the gastrointestinal tract after swallowing needles, or through migration of broken needles from distant injection sites in intravenous drug users. We report a case of rapidly fatal cardiopulmonary injuries following "self-treatment" to "pop" a cyst with a piercing needle. The scene, autopsy, computed tomography, and digital x-ray findings of this unique case are discussed with a review of selective literature. In this case, the right lung and heart showed multiple perforations, possibly resulting from heartbeats or respirations pushing the organs against the needle. To our knowledge, perforations in this setting of "self-treatment" have not been previously reported in the literature.
{"title":"Postmortem Imaging of an Unusual Case of Fatal Heart and Lung Perforation Due to Self-Treatment.","authors":"Zabiullah Ali, Nikki Mourtzinos","doi":"10.1177/19253621221102045","DOIUrl":"https://doi.org/10.1177/19253621221102045","url":null,"abstract":"<p><p>Intentional or accidental cardiothoracic injuries caused by needles and pins are rare and commonly reported in individuals with psychiatric conditions or intravenous drug users. Although rare, these cases could result in serious injury during the performance of an autopsy and highlight the importance of post-mortem radiology. Therapeutic complications with cardiac perforation have been reported due to pericardiocentesis and acupuncture. The majority of reported cases were not fatal and some had a prolonged asymptomatic period of weeks or even years after insertion. Needles or other sharp objects can reach the cardiovascular system directly through the chest wall, indirectly from any segment of the gastrointestinal tract after swallowing needles, or through migration of broken needles from distant injection sites in intravenous drug users. We report a case of rapidly fatal cardiopulmonary injuries following \"self-treatment\" to \"pop\" a cyst with a piercing needle. The scene, autopsy, computed tomography, and digital x-ray findings of this unique case are discussed with a review of selective literature. In this case, the right lung and heart showed multiple perforations, possibly resulting from heartbeats or respirations pushing the organs against the needle. To our knowledge, perforations in this setting of \"self-treatment\" have not been previously reported in the literature.</p>","PeriodicalId":36813,"journal":{"name":"Academic Forensic Pathology","volume":"12 2","pages":"75-79"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254013/pdf/10.1177_19253621221102045.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9968893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-01DOI: 10.1177/19253621221097294
Tiffany G Baker, William B Glen, Robert C Wilson, Nicholas I Batalis, Daynna J Wolff, Cynthia T Welsh
We report a case of a somatic overgrowth syndrome diagnosed at forensic autopsy with the aid of next generation sequencing as Proteus syndrome. Somatic overgrowth syndromes result from spontaneous somatic mutations that arise early in development and display a mosaic pattern of expression in patient tissues. Due to the temporal and anatomic heterogeneity of these syndromes, phenotypes vary widely, resulting in clinical overlap. Furthermore, the variable ratio of mutated to nonmutated cells in patient tissue can result in low-level mutations that could be missed using Sanger sequencing. Due to these factors, recent literature points to next generation sequencing (NGS) as an adjunct to diagnosis of these rare entities. A male in his fourth decade of life presented to our forensic autopsy service with physical features suggestive of a somatic overgrowth syndrome. Due to the paucity of clinical information accompanying the individual, a definitive diagnosis based on physical characteristics, alone, was not possible. Next generation sequencing of affected formalin-fixed and paraffin-embedded brain tissue confirmed the presence of the variant in AKT1 (c.49G>A, p.Glu17Lys, in 14.13% of reads) found in Proteus syndrome. To our knowledge, this is the first report of the mosaic variant of AKT1 detected in brain tissue and the first reported case of a postmortem diagnosis of Proteus syndrome with the aid of NGS. We conclude that NGS can be used as an adjunctive method to support a specific diagnosis among the somatic overgrowth syndromes postmortem in the absence of sufficient clinical history.
{"title":"Postmortem Diagnosis of the Proteus Syndrome by Next Generation Sequencing of Affected Brain Tissue.","authors":"Tiffany G Baker, William B Glen, Robert C Wilson, Nicholas I Batalis, Daynna J Wolff, Cynthia T Welsh","doi":"10.1177/19253621221097294","DOIUrl":"https://doi.org/10.1177/19253621221097294","url":null,"abstract":"<p><p>We report a case of a somatic overgrowth syndrome diagnosed at forensic autopsy with the aid of next generation sequencing as Proteus syndrome. Somatic overgrowth syndromes result from spontaneous somatic mutations that arise early in development and display a mosaic pattern of expression in patient tissues. Due to the temporal and anatomic heterogeneity of these syndromes, phenotypes vary widely, resulting in clinical overlap. Furthermore, the variable ratio of mutated to nonmutated cells in patient tissue can result in low-level mutations that could be missed using Sanger sequencing. Due to these factors, recent literature points to next generation sequencing (NGS) as an adjunct to diagnosis of these rare entities. A male in his fourth decade of life presented to our forensic autopsy service with physical features suggestive of a somatic overgrowth syndrome. Due to the paucity of clinical information accompanying the individual, a definitive diagnosis based on physical characteristics, alone, was not possible. Next generation sequencing of affected formalin-fixed and paraffin-embedded brain tissue confirmed the presence of the variant in <i>AKT1</i> (c.49G>A, p.Glu17Lys, in 14.13% of reads) found in Proteus syndrome. To our knowledge, this is the first report of the mosaic variant of <i>AKT1</i> detected in brain tissue and the first reported case of a postmortem diagnosis of Proteus syndrome with the aid of NGS. We conclude that NGS can be used as an adjunctive method to support a specific diagnosis among the somatic overgrowth syndromes postmortem in the absence of sufficient clinical history.</p>","PeriodicalId":36813,"journal":{"name":"Academic Forensic Pathology","volume":"12 2","pages":"52-57"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254014/pdf/10.1177_19253621221097294.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9764145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
In the wake of second wave of coronavirus disease (Covid-19), an increased number of mucormycosis cases were reported by the Ministry of Health and Family Welfare in India. A total of 45 432 cases of mucormycosis were reported till mid-July 2021, with 4252 fatalities. Mucormycosis and other fungal infections are most commonly seen as an opportunistic infection. They are found in those with low underlying immunity either due to a diabetes, cancers particularly hematological malignancies, and so on, or as a side effect of prolonged/irrational use of certain drugs like steroids, immunosuppressive drugs for management of other disorders including Covid-19. The Health Authorities in India stated that although it is not a new disease, its true incidence during the beginning of the second wave was unknown as it was not a notifiable disease. As per reports, the most common presentations of mucormycosis included rhinocerebral (77.6%), cutaneous (4.3%), and pulmonary (3.0%). We present a case of pulmonary mucormycosis and pneumonitis in a Covid-19 positive patient brought for autopsy. The patient was an under trial prisoner sent for treatment to our facility who was reported Covid positive.
{"title":"Pneumonitis and Pulmonary Mucormycosis in a Covid-19 Positive Patient-A Case Report.","authors":"Luv Sharma, Sumiti Gupta, Lalit Chopra, Pooja Dhamija","doi":"10.1177/19253621221106885","DOIUrl":"https://doi.org/10.1177/19253621221106885","url":null,"abstract":"<p><p>In the wake of second wave of coronavirus disease (Covid-19), an increased number of mucormycosis cases were reported by the Ministry of Health and Family Welfare in India. A total of 45 432 cases of mucormycosis were reported till mid-July 2021, with 4252 fatalities. Mucormycosis and other fungal infections are most commonly seen as an opportunistic infection. They are found in those with low underlying immunity either due to a diabetes, cancers particularly hematological malignancies, and so on, or as a side effect of prolonged/irrational use of certain drugs like steroids, immunosuppressive drugs for management of other disorders including Covid-19. The Health Authorities in India stated that although it is not a new disease, its true incidence during the beginning of the second wave was unknown as it was not a notifiable disease. As per reports, the most common presentations of mucormycosis included rhinocerebral (77.6%), cutaneous (4.3%), and pulmonary (3.0%). We present a case of pulmonary mucormycosis and pneumonitis in a Covid-19 positive patient brought for autopsy. The patient was an under trial prisoner sent for treatment to our facility who was reported Covid positive.</p>","PeriodicalId":36813,"journal":{"name":"Academic Forensic Pathology","volume":"12 2","pages":"58-64"},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254015/pdf/10.1177_19253621221106885.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10007484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}