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1.
Acad Forensic Pathol ; 7(4): 632-639, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31240012

RESUMO

INTRODUCTION: The Summit County Medical Examiner's Office (SCMEO) observed 52 unexplained deaths during the month of July 2016 in which drug overdose was suspected. A fentanyl screening immunoassay performed on autopsy specimens was positive, but gas chromatograph/mass spectrometry (GC/MS) failed to confirm its presence. Carfentanil, a large wildlife tranquilizer, was later identified through reference lab testing as the cause of the sudden increase in overdoses. METHODS: Due to the large volume of cases which followed, a method for identifying carfentanil was developed utilizing in-house instrumentation. In addition, a retrospective analysis for all drug overdose cases was conducted through the SCMEO database from January 2009 through December 2016. RESULTS: Assessment of the data revealed a 277% increase in yearly overdose-related fatalities when comparing 2009 to 2016. Carfentanil was not identified in any other fatal drug overdoses in the area before the first appearance in Akron in July of 2016. There was an initial spike of 35 deaths in both July and August, which then decreased to 12 deaths in December. There was an almost equal distribution of carfentanil as a single agent and carfentanil mixed with multiple other illicit drugs. DISCUSSION: Current observations suggest carfentanil concentrations in overdose cases are decreasing; however, it may be present in combination with other drugs, especially other fentanyl analogs. The lower concentrations of carfentanil are much more difficult to detect in urine and peripheral blood, therefore making the testing of scene paraphernalia, central blood, and organ tissue more of a necessity.

2.
Am J Med Genet A ; 164A(1): 251-8, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24352918

RESUMO

Rubinstein-Taybi syndrome (RTS) and Cornelia de Lange syndrome (CdLS) are genetically heterogeneous multiple anomalies syndromes, each having a distinctive facial gestalt. Two genes (CREBBP and EP300) are known to cause RTS, and five (NIPBL, SMC1A, SMC3, RAD21, and HDAC8) have been associated with CdLS. A diagnosis of RTS or CdLS is molecularly confirmed in only 65% of clinically identified cases, suggesting that additional causative genes exist for both conditions. In addition, although EP300 and CREBBP encode homologous proteins and perform similar functions, only eight EP300 positive RTS patients have been reported, suggesting that patients with EP300 mutations might be escaping clinical recognition. We report on a child with multiple congenital abnormalities and intellectual disability whose facial features and complex phenotype resemble CdLS. However, no mutations in CdLS-related genes were identified. Rather, a novel EP300 mutation was found on whole exome sequencing. Possible links between EP300 and genes causing CdLS are evident in the literature. Both EP300 and HDAC8 are involved in the regulation of TP53 transcriptional activity. In addition, p300 and other chromatin associated proteins, including NIPBL, SMCA1, and SMC3, have been found at enhancer regions in different cell types. It is therefore possible that EP300 and CdLS-related genes are involved in additional shared pathways, producing overlapping phenotypes. As whole exome sequencing becomes more widely utilized, the diverse phenotypes associated with EP300 mutations should be better understood. In the meantime, testing for EP300 mutations in those with features of CdLS may be warranted.


Assuntos
Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/genética , Proteína p300 Associada a E1A/genética , Exoma , Mutação da Fase de Leitura , Fenótipo , Autopsia , Diagnóstico Diferencial , Fácies , Evolução Fatal , Heterozigoto , Humanos , Lactente , Masculino , Síndrome de Rubinstein-Taybi/diagnóstico , Síndrome de Rubinstein-Taybi/genética
3.
J Forensic Sci ; 57(5): 1226-30, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22845010

RESUMO

Many studies have been published regarding suicidal hanging deaths, and most forensic pathologists and coroners are very familiar with such causes of death. Forensic pathologists are challenged over their rulings regarding manner of death in part because the general public has a limited scope of knowledge. One such challenge centers on the question of whether a hanging can be a suicide if the individual is not fully suspended. The authors designed a retrospective study to review suspension in hangings and to analyze other criteria used to help in deciding manner of death. We examined 229 suicidal hanging deaths over an 11-year period (1997 through early 2009) using the data from two separate jurisdictions in Ohio. In conclusion, we found that the vast majority (83.4%) of people who hanged themselves were found partially suspended. Among other criteria analyzed, only the presence of petechial hemorrhages and acute neck injury was statistically significant.


Assuntos
Asfixia/patologia , Lesões do Pescoço/patologia , Suicídio/estatística & dados numéricos , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Criança , Feminino , Patologia Legal , Humanos , Masculino , Transtornos Mentais/epidemiologia , Pessoa de Meia-Idade , Ohio/epidemiologia , Púrpura/patologia , Estudos Retrospectivos , Distribuição por Sexo , Adulto Jovem
4.
Case Rep Hematol ; 2011: 941637, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-22937316

RESUMO

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. We report a fatal case of ECD with extensive cardiac involvement associated with a marginal zone lymphoma and monoclonal proteinemia in a young man. This is the first reported association of ECD with a monoclonal gammopathy or a lymphoma.

6.
J Forensic Sci ; 47(1): 205-7, 2002 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12064654

RESUMO

Tumescent liposuction is a common cosmetic procedure that is performed as an outpatient service in physician's offices and is largely believed to be safe. The protuberant areas of the body containing the undesirable fat deposits are injected with normal saline containing lidocaine and epinephrine for pain control and hemostasis, and the waterlogged cells are suctioned out via cannula through a small incision. We recently encountered three cases in which deaths were attributed to this procedure. Two showed fat embolization in the lung and one died from fluid overload. The osmium tetroxide post-fixed lung sections showed fat emboli in the interstitial capillaries and arterioles. We reviewed the recent literature and found that pulmonary thromboemboli, fat embolization, fluid overload, and lidocaine and epinephrine intoxication are found at autopsy in many cases. Forensic pathologists responsible for determining the cause and manner of death should become familiar with the postmortem findings and risks of liposuction therapy and communicate them to their clinical colleagues and communities.


Assuntos
Embolia Gordurosa/etiologia , Lipectomia/efeitos adversos , Idoso , Anestésicos Locais/efeitos adversos , Anestésicos Locais/uso terapêutico , Autopsia , Causas de Morte , Epinefrina/efeitos adversos , Epinefrina/uso terapêutico , Feminino , Medicina Legal , Humanos , Lidocaína/efeitos adversos , Lidocaína/uso terapêutico , Masculino , Pessoa de Meia-Idade , Mudanças Depois da Morte , Vasoconstritores/efeitos adversos , Vasoconstritores/uso terapêutico , Equilíbrio Hidroeletrolítico
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