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1.
Fa Yi Xue Za Zhi ; 36(4): 497-501, 2020 Aug.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-33047533

RESUMO

Abstract: Objective To explore the association of cardiac disease associated genetic variants and the high incidence of Yunnan sudden unexplained death (YNSUD) in Yi nationality. Methods The genomic DNA was extracted from peripheral blood samples collected from 205 Yi villagers from YNSUD aggregative villages (inpatient group) and 197 healthy Yi villagers from neighboring villages (control group). Fifty-two single nucleotide variants (SNVs) of 25 cardiac disease associated genes were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). The SPSS 17.0 was used to analyze data. The pathogenicities of variants with differences between the two groups that have statistical significance were predicted by protein function prediction software PolyPhen-2 and SIFT. All villagers from inpatient group were given electrocardiogram (ECG) examination using a 12-lead electrocardiograph. Results The allele frequency and the genotype frequency of missense mutation DSG2 (rs2278792, c.2318G>A, p.R773K) of pathogenic genes of arrhythmogenic right ventricular cardiomyopathy (ARVC) in inpatient group was higher than that in control group (P<0.05). Abnormal ECG changes were detected in 71 individuals (34.6%) in the inpatient group, among which 54 individuals carried R773K mutation, including clockwise (counterclockwise) rotation, left (right) axis deviation, ST segment and T wave alteration and heart-blocking. Conclusion Definite pathogenic mutations have not been found in the 52 cardiac disease genes associated SNVs detected in Yi nationality in regions with high incidence of YNSUD. The cause of high incidence of YNSUD in Yi nationality needs further study.


Assuntos
Displasia Arritmogênica Ventricular Direita , Grupos Étnicos , China/epidemiologia , Morte Súbita/epidemiologia , Morte Súbita/etiologia , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Grupos Étnicos/genética , Humanos , Incidência , Mutação
3.
Sud Med Ekspert ; 63(5): 39-42, 2020.
Artigo em Russo | MEDLINE | ID: mdl-32930533

RESUMO

The aim of study was to develop a comprehensive assessment of the central and peripheral parts of the nervous system with a determination of degree of severity of alterative changes in comparison with the condition of myocardial contractile apparatus. Own observations on modern methods of morphological study of the cardiac conduction system in the sudden death of young people are presented. Particular attention is paid to the technique of isolating and coloring the nervous structures of sympathetic and parasympathetic parts of the autonomic nervous system, including the medulla oblongata, sinus-atrial and atrial-ventricular nodes, atrioventricular bundle (the His bundle), Purkinje fibers. The features of morphological changes in the nerve structures of the heart, due to various etiological factors are highlighted.


Assuntos
Morte Súbita , Adolescente , Fascículo Atrioventricular , Morte Súbita/etiologia , Humanos , Ramos Subendocárdicos
5.
Leg Med (Tokyo) ; 47: 101785, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32977197

RESUMO

Splenic angiosarcoma (SA) is a rare disease that can cause spontaneous splenic rupture leading to unexpected death. The rare incidence and non-specific clinical presentations made the early correct diagnosis of SA impossible in clinical practice. Even with medical intervention, 80% of patients died within 6 months after diagnosis. Here, we report a man who had complained of abdominal distension for 2 weeks and succumbed to the disease nine hours after admission. Diagnosis of hepatic and splenic angiosarcomas was based on post-mortem histopathological examination and immunohistochemistry, and the cause of death was hemorrhagic shock caused by spontaneous splenic rupture secondary to SA. This present case was the first forensic autopsy of spontaneous splenic rupture secondary to SA, which can highlight the diagnosis of rare diseases in forensic practice, and forensic pathologists should bear in mind these rare diseases even in routine practice.


Assuntos
Autopsia , Morte Súbita/etiologia , Morte Súbita/patologia , Patologia Legal , Hemangiossarcoma/complicações , Hemangiossarcoma/diagnóstico , Neoplasias Esplênicas/complicações , Neoplasias Esplênicas/diagnóstico , Ruptura Esplênica/etiologia , Adulto , Evolução Fatal , Hemangiossarcoma/patologia , Humanos , Masculino , Doenças Raras , Ruptura Espontânea , Choque Hemorrágico/etiologia , Neoplasias Esplênicas/patologia
6.
Leg Med (Tokyo) ; 47: 101764, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32736166
7.
Neurology ; 95(7): e867-e877, 2020 08 18.
Artigo em Inglês | MEDLINE | ID: mdl-32636323

RESUMO

OBJECTIVE: To determine time trends and distinguishing autopsy findings of sudden unexpected death in epilepsy (SUDEP) in the United States. METHODS: We identified decedents where epilepsy/seizure was listed as cause/contributor to death or comorbid condition on the death certificate among all decedents who underwent medico-legal investigation at 3 medical examiner (ME) offices across the country: New York City (2009-2016), San Diego County (2008-2016), and Maryland (2000-2016). After reviewing all available reports, deaths classified as definite/probable/near SUDEP or SUDEP plus were included for analysis. Mann-Kendall trend test was used to analyze temporal trends in SUDEP rate for 2009-2016. Definite SUDEPs were compared to sex- and age ±2 years-matched non-SUDEP deaths with a history of epilepsy regarding autopsy findings, circumstances, and comorbidities. RESULTS: A total of 1,086 SUDEP cases were identified. There was a decreasing trend in ME-investigated SUDEP incidence between 2009 and 2016 (z = -2.2, S = -42, p = 0.028) among 3 regions. There was a 28% reduction in ME-investigated SUDEP incidence from 2009 to 2012 to 2013-2016 (confidence interval, 17%-38%, p < 0.0001). We found no correlation between SUDEP rates and the month of year or day of week. There was no difference between SUDEP and non-SUDEP deaths regarding neurodevelopmental abnormalities, pulmonary congestion/edema, and myocardial fibrosis. CONCLUSIONS: There was a decreasing monotonic trend in ME-investigated SUDEP incidence over 8 years, with a 28% reduction in incidence from 2009-2012 to 2013-2016. Unlike SIDS and sudden cardiac death, we found no correlation between SUDEP and the season of year or day of week. No autopsy findings distinguished SUDEP from non-SUDEP deaths.


Assuntos
Morte Súbita/epidemiologia , Epilepsia/epidemiologia , Convulsões/epidemiologia , Morte Súbita Inesperada na Epilepsia/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Causas de Morte , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Estados Unidos , Adulto Jovem
8.
Soc Psychiatry Psychiatr Epidemiol ; 55(8): 1081-1092, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32683472

RESUMO

PURPOSE: We aimed to test the hypothesis that among people who experience sudden bereavement, loneliness is associated with post-bereavement suicide attempt and post-bereavement suicidal ideation, even when adjusting for network size. METHODS: We analysed cross-sectional data collected in the 2010 UCL Bereavement Study, to identify 3193 respondents who had experienced sudden bereavement. We used multivariable logistic regression to test for an association between loneliness (using a newly-developed eight-item loneliness measure) and post-bereavement suicide attempt and suicidal ideation, adjusting for socio-demographic factors, pre-bereavement depression and self-harm, and network size. RESULTS: Among bereaved adults, loneliness was significantly associated with probability of post-bereavement suicide attempt (AOR 1.19; 95% CI 1.14-1.25) and of post-bereavement suicidal ideation (AOR 1.24; 95% CI 1.20-1.28), with estimates unchanged by adding perceived stigma of the bereavement to adjusted models. There was no association between suicide bereavement and loneliness (adjusted coefficient 0.22; 95% CI - 0.12 to 0.45; p = 0.063). The association of loneliness and suicide attempt risk was similar whether participants were bereaved by suicide or not. CONCLUSIONS: People who report feeling lonely after sudden bereavement are more likely to make a suicide attempt after their loss, even when taking into account their network size and the perceived stigma of the sudden bereavement. There is no evidence that the effects of loneliness on suicidality are specific to suicide bereavement. This work identifies loneliness as a potential target for suicide prevention interventions among bereaved people. It also fuels interest in longitudinal research investigating loneliness as a putative mediator of suicide risk.


Assuntos
Solidão , Tentativa de Suicídio , Adulto , Luto , Estudos Transversais , Morte Súbita , Humanos , Fatores de Risco , Ideação Suicida , Inquéritos e Questionários
11.
Cardiovasc Pathol ; 49: 107244, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32652483

RESUMO

Cardiac myxoma is a rare benign neoplasm of the heart. Historically myxomas were incidental findings during autopsies, however improved imaging techniques made these diagnosis possible in living patients, making the surgical treatment of these neoplasms achievable. Cardiac myxomas may occur both sporadically and in a familial context, often in the clinico-pathological picture of the Carney complex. While familial myxomas occur in the context of well-known genetic mutations, the molecular etiology of sporadically occurring myxomas is still not completely clear. We must note however that many of the patients affected by myxomas are asymptomatic; when symptoms are present they are often nonspecific and hard to decipher, especially when referring to sporadically occurring heart myxomas. In this paper we describe a case of sudden death from the massive embolization of a left atrial cardiac myxoma. We also reviewed all the cases in the literature of sudden death from heart myxoma embolism. An accurate epidemiology of heart myxomas would be the key to outline the best treatment practices and the etiology of sporadic myxomas, nevertheless this target could only be pursued with a deep revaluation of the clinical autopsy as a fundamental diagnostic tool.


Assuntos
Morte Súbita/etiologia , Embolia/etiologia , Neoplasias Cardíacas/complicações , Mixoma/complicações , Células Neoplásicas Circulantes/patologia , Adulto , Autopsia , Biópsia , Causas de Morte , Morte Súbita/patologia , Embolia/patologia , Evolução Fatal , Neoplasias Cardíacas/patologia , Humanos , Masculino , Mixoma/patologia
12.
Rev. esp. med. legal ; 46(2): 81-84, abr.-jun. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-193995

RESUMO

Mujer de 43 años, gestante de 37 semanas con controles periódicos normales que fallece súbitamente tras cuadro de náuseas y vómitos. Se realiza autopsia forense con estudio histopatológico de todos los órganos (maternos y fetales), toxicológico y genético. Los hallazgos fundamentales fueron: múltiples émbolos trofoblásticos en pulmón; extensa tiroiditis linfocitaria crónica e hipofisitis focal. El análisis genético demostró un polimorfismo en el gen SCN5A del canal del sodio. Se plantean 3 posibles causas de muerte: 1) embolismo trofoblástico; 2) arritmia por alteración electrolítica asociada a hipotiroidismo y potenciada por las náuseas y los vómitos, y 3) síndrome de QT largo por hipertiroidismo y polimorfismo en el gen SCN5A. Este caso es ilustrativo de que la determinación de la causa de la muerte durante el embarazo o puerperio puede ser muy compleja, por lo que la autopsia debe ser exhaustiva incluyendo el estudio histopatológico de los órganos endocrinos, análisis genético y análisis bioquímico


A 43-year-old, 37-week-pregnant woman with normal periodic controls dies suddenly after nausea and vomiting. A complete forensic autopsy is performed with histopathological study of all organs (maternal and foetal), and toxicological and genetic analysis. The main findings were: multiple trophoblastic embolism in the lung; extensive chronic lymphocytic thyroiditis; and focal hypophysitis. Genetic analysis demonstrated a polymorphism in the SCN5A gene of the sodium channel. There are three possible causes of death: 1) trophoblastic embolism; 2) arrhythmia due to electrolyte disturbance associated with hypothyroidism and enhanced by nausea and vomiting; 3) long QT syndrome due to hyperthyroidism and polymorphism in the SCN5A gene. This case illustrates that determination of cause of death during pregnancy or puerperium can be very complex, so the autopsy must be exhaustive including histopathological study of the endocrine organs, and genetic and biochemical analysis


Assuntos
Humanos , Feminino , Gravidez , Adulto , Morte Súbita/etiologia , Canalopatias/diagnóstico , Embolia Pulmonar/diagnóstico , Doença Trofoblástica Gestacional/diagnóstico , Tireoidite Autoimune/diagnóstico , Complicações na Gravidez/diagnóstico , Autopsia/métodos , Evolução Fatal , Diagnóstico Diferencial , Morte Materna/etiologia
13.
Diving Hyperb Med ; 50(2): 185-188, 2020 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-32557424

RESUMO

Acute cerebral oxygen toxicity (ACOT) is a known side effect of hyperbaric oxygen treatment (HBOT), which can cause generalised seizures. Fortunately, it has a low incidence and is rarely harmful. Nevertheless, we present a case of a 37 year-old patient with morbid obesity who died unexpectedly after an oxygen toxicity seizure in the hyperbaric chamber. Considering possible causes, physiologic changes in obesity and obesity hypoventilation syndrome may increase the risk of ACOT. Obesity, especially in extreme cases, may hinder emergency procedures, both in- and outside of a hyperbaric chamber. Physicians in the hyperbaric field should be aware of the possibility of a fatal outcome after ACOT through the described mechanisms and take appropriate preventative measures. Basic airway management skills are strongly advised for involved physicians, especially when specialised personnel and equipment are not immediately available.


Assuntos
Morte Súbita , Oxigenação Hiperbárica , Oxigênio , Adulto , Morte Súbita/etiologia , Humanos , Oxigenação Hiperbárica/efeitos adversos , Obesidade Mórbida , Oxigênio/efeitos adversos , Convulsões/induzido quimicamente , Convulsões/terapia
14.
Epilepsy Behav ; 111: 107211, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32540769

RESUMO

Teleneurology in Spain had not been implemented so far in clinical practice, except in urgent patients with stroke. Telemedicine was hardly used in epilepsy, and patients and neurologists usually preferred onsite visits. Our goal was to study impressions of adult and pediatric epileptologists about the use of telemedicine after emergent implementation during the new coronavirus 2019 (COVID-19) pandemic. METHODS: An online survey was sent to the members of the Spanish Epilepsy Society and the members of the Epilepsy Study Group of the Catalan Neurological Society, inquiring about different aspects of telemedicine in epilepsy during the pandemic lockdown. RESULTS: A total of 66 neurologists responded, mostly adult neurologists (80.3%), the majority with a monographic epilepsy clinic (4 out of 5). Of all respondents, 59.1% reported to attend more than 20 patients with epilepsy (PWE) a week. During the pandemic, respondents handled their epilepsy clinics mainly with telephone calls (88%); only 4.5% used videoconference. Changes in antiseizure medications were performed less frequently than during onsite visits by 66.6% of the epileptologists. Scales were not administered during these visits, and certain types of information such as sudden expected unrelated death in epilepsy (SUDEP) were felt to be more appropriate to discuss in person. More than 4 out of 5 of the neurologists (84.8%) stated that they would be open to perform some telematic visits in the future. CONCLUSIONS: In Spain, emergent implantation of teleneurology has shown to be appropriate for the care of many PWE. Technical improvements, extended use of videoconference and patient selection may improve results and patient and physician satisfaction.


Assuntos
Betacoronavirus , Infecções por Coronavirus , Epilepsia/terapia , Pandemias , Pneumonia Viral , Telemedicina , Adulto , Morte Súbita , Serviço Hospitalar de Emergência , Humanos , Pessoa de Meia-Idade , Espanha , Inquéritos e Questionários
15.
Heart Rhythm ; 17(9): 1472-1479, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32438018

RESUMO

Chloroquine and hydroxychloroquine are now being widely used for treatment of COVID-19. Both medications prolong the QT interval and accordingly may put patients at increased risk for torsades de pointes and sudden death. Published guidance documents vary in their recommendations for monitoring and managing these potential adverse effects. Accordingly, we set out to conduct a systematic review of the arrhythmogenic effect of short courses of chloroquine or hydroxychloroquine. We searched on MEDLINE and Embase, as well as in the gray literature up to April 17, 2020, for the risk of QT prolongation, torsades, ventricular arrhythmia, and sudden death with short-term chloroquine and hydroxychloroquine usage. This search resulted in 390 unique records, of which 41 were ultimately selected for qualitative synthesis and which included data on 1515 COVID-19 patients. Approximately 10% of COVID-19 patients treated with these drugs developed QT prolongation. We found evidence of ventricular arrhythmia in 2 COVID-19 patients from a group of 28 treated with high-dose chloroquine. Limitations of these results are unclear follow-up and possible publication/reporting bias, but there is compelling evidence that chloroquine and hydroxychloroquine induce significant QT-interval prolongation and potentially increase the risk of arrhythmia. Daily electrocardiographic monitoring and other risk mitigation strategies should be considered in order to prevent possible harms from what is currently an unproven therapy.


Assuntos
Betacoronavirus , Infecções por Coronavirus/tratamento farmacológico , Morte Súbita/etiologia , Hidroxicloroquina/uso terapêutico , Síndrome do QT Longo/etiologia , Pneumonia Viral/tratamento farmacológico , Torsades de Pointes/etiologia , Antimaláricos/uso terapêutico , Infecções por Coronavirus/complicações , Humanos , Pandemias , Pneumonia Viral/complicações
17.
J Thromb Thrombolysis ; 50(1): 239-241, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32394237

RESUMO

Coronavirus disease 2019 (COVID-19) is an infectious disease that primarily affects the respiratory system, but it may cause cardiovascular complications such as thromboembolism. Rarely, pulmonary embolism may be encountered in patients with severe COVID-19 infection, especially in intensive care units. An asymptomatic young case of COVID-19 presenting with sudden death due to acute massive pulmonary embolism has not been previously described. We report a 41-year-old woman presented to emergency department with sudden death during physical activity. She had only history of diabetes mellitus and she was asymptomatic until sudden death. CT pulmonary angiography and chest CT scans revealed acute massive embolism and typical imaging findings of COVID-19 pneumonia, respectively. Interestingly, the patient had no symptoms or signs of infection and also had no risk factors for thromboembolism. COVID-19 infection appears to induce venous thromboembolism, especially pulmonary embolism. The case is remarkable in terms of showing how insidious and life-threatening COVID-19 infection can be.


Assuntos
Infecções por Coronavirus/complicações , Morte Súbita/etiologia , Pneumonia Viral/complicações , Embolia Pulmonar/virologia , Adulto , Angiografia por Tomografia Computadorizada , Evolução Fatal , Feminino , Humanos , Pandemias , Embolia Pulmonar/diagnóstico por imagem
18.
BMC Med Genet ; 21(1): 96, 2020 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-32381069

RESUMO

BACKGROUND: Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular hypotonia, psychomotor delay, and cerebellar ataxia. Cerebral MRI shows mid- and hindbrain anomalies including the molar tooth sign. We report a male patient with atypical presentation of Joubert syndrome type 23, thus expanding the phenotype. CASE PRESENTATION: Clinical features were consistent with JBTS already from infancy, yet the syndrome was not suspected before cerebral MRI later in childhood showed the characteristic molar tooth sign and ectopic neurohypophysis. From age 11 years seizures developed and after few years became increasingly difficult to treat, also related to inadequate compliance to therapy. He died at 23 years of sudden unexpected death in epilepsy (SUDEP). The genetic diagnosis remained elusive for many years, despite extensive genetic testing. We reached the genetic diagnosis by performing whole genome sequencing of the family trio and analyzing the data with the combination of one analysis pipeline for single nucleotide variants (SNVs)/indels and one for structural variants (SVs). This lead to the identification of the most common variant detected in patients with JBTS23 (OMIM# 616490), rs534542684, in compound heterozygosity with a 8.3 kb deletion in KIAA0586, not previously reported. CONCLUSIONS: We describe for the first time ectopic neurohypophysis and SUDEP in JBTS23, expanding the phenotype of this condition and raising the attention on the possible severity of the epilepsy in this disease. We also highlight the diagnostic power of WGS, which efficiently detects SNVs/indels and in addition allows the identification of SVs.


Assuntos
Anormalidades Múltiplas/genética , Proteínas de Ciclo Celular/genética , Cerebelo/anormalidades , Morte Súbita/patologia , Epilepsia/genética , Anormalidades do Olho/genética , Doenças Renais Císticas/genética , Retina/anormalidades , Anormalidades Múltiplas/mortalidade , Anormalidades Múltiplas/patologia , Adulto , Cerebelo/patologia , Criança , Morte Súbita/epidemiologia , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/mortalidade , Deficiências do Desenvolvimento/patologia , Epilepsia/mortalidade , Epilepsia/patologia , Anormalidades do Olho/mortalidade , Anormalidades do Olho/patologia , Feminino , Heterozigoto , Humanos , Mutação INDEL , Doenças Renais Císticas/mortalidade , Doenças Renais Císticas/patologia , Masculino , Neuro-Hipófise/metabolismo , Neuro-Hipófise/patologia , Retina/patologia , Sequenciamento Completo do Genoma , Adulto Jovem
20.
Sports Health ; 12(3): 241-245, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32271134

RESUMO

BACKGROUND: Sickle cell trait (SCT) has been associated with an increased risk of sudden death in athletes during strenuous exercise. In August 2010, the National Collegiate Athletic Association (NCAA) began requiring athletes to be screened for SCT, provide proof of SCT status, or sign a waiver and launched an educational campaign for athletes, coaches, and medical staff. The impact of this program is unknown. The purpose of this study was to determine the incidence of death associated with sickle cell trait (daSCT) in NCAA athletes before and after legislation. HYPOTHESIS: NCAA SCT legislation will decrease the incidence of daSCT. STUDY DESIGN: Observational study. LEVEL OF EVIDENCE: Level 2. METHODS: A database of NCAA athlete deaths from 2000 to 2019 was reviewed for daSCT. A total of 8,309,050 athlete-years (AY) were included. Incidence of death was calculated before and after legislation. RESULTS: The incidence of daSCT in Division I (DI) football athletes before legislation (n = 9) was 1:28,145 AY and after legislation (n = 1) was 1:250,468 AY (relative risk [RR], 0.112; 95% CI, 0.003-0.811; P = 0.022), an 89% reduction in risk after legislation was enacted. The incidence of daSCT in African American DI football athletes before legislation (n = 9) was 1:12,519 AY and after legislation (n = 1) was 1:118,464 AY (RR, 0.106; 95% CI, 0.002-0.763; P = 0.017), also an 89% risk reduction after legislation was enacted. For all NCAA athletes, the incidence of daSCT was 1:489,749 AY before legislation (n = 10) and 1:1,705,780 AY after legislation (n = 2) (RR, 0.288; 95% CI, 0.031-1.347; P = 0.146). CONCLUSION: The incidence of daSCT in DI football athletes has decreased significantly since legislation was enacted. Cases of daSCT outside of football are rare. It is unclear whether the decrease is related to screening for SCT, education, or both. CLINICAL RELEVANCE: This is the first evidence that NCAA SCT legislation may save lives.


Assuntos
Morte Súbita/epidemiologia , Testes Obrigatórios/legislação & jurisprudência , Traço Falciforme/complicações , Traço Falciforme/diagnóstico , Esportes/legislação & jurisprudência , Adolescente , Morte Súbita/prevenção & controle , Humanos , Incidência , Masculino , Estados Unidos/epidemiologia , Adulto Jovem
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