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1.
Diagnostics (Basel) ; 11(6)2021 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-34072173

RESUMO

BACKGROUND: Clinical and molecular mechanisms involved in the cause and time of death of alcoholic cirrhosis (AC) patients undergoing liver transplantation (LT) are not entirely understood. In sudden death cases, judicial autopsy practice is mandatory for determining the cause and circumstances of death. The medico-legal autopsy data are essential for helping health authorities to guide future public health activities, assess the effectiveness of health systems, and adopt the necessary preventive measures to improve and adapt the treatments in order to increase these patients' survival. OBJECTIVE: Our study aimed to determine the different clinical and sociodemographic causes that influence the different causes of death and the short- and long-term survival of AC patients undergoing liver transplantation. METHODS: A total of 122 deceased AC patients undergoing LT were analyzed at different times post-transplantation. The main pre- and post-transplant complications were analyzed in relation to the cause of death and the patient's survival, as well as the causes and time at which the patient's death occurred. RESULTS: A total of 53.3% of non-sudden death was observed. A large number of the deaths of AC patients undergoing transplantation were due to non-sudden death, sepsis, and graft failure (GF), the main causes of death in the sample being similar in both sexes. In non-sudden deaths, there were no significant differences between the death rates either related or not related to the liver transplant. Sepsis was the main cause, with the highest percentage (21.3%) of mortality, followed by GF (18.9%) and multiorgan failure (15.6%) at ten years. Furthermore, our results showed how pre-transplant clinical complications, such as viral infections and encephalopathy, influence the age at which multiorgan failure occurs in the transplanted patient. CONCLUSION: Multiorgan failure is the leading cause of sudden death, with higher mortality during the first year after transplantation, followed by sepsis and GF. Our results show the vulnerability of AC patients, both in the hospital period after the transplant and outside.

2.
Clin Genet ; 93(1): 3-14, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28369730

RESUMO

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and sudden death. The penetrance is incomplete and it is age and gender dependent. It is accepted as a disease of the sarcomere. Sixty percent of HCM cases carry mutations in 1 of 8 sarcomere protein genes, mainly non-sense MYBPC3 and missense MYH7 variants. Young patients with severe phenotype and other clinical features are included in proposed scores for prediction of high positive genetic result. The number of genes reported as disease-causing has increased in the last few years, in some cases without robust evidence. Currently available in silico tools are not always useful for differentiation between benign and deleterious variants. There is enough information on genotype-phenotype correlations to start understanding the mechanisms of the disease. Genetic and environmental modifiers have been explored with some interesting insights from miRNA studies with potential as biomarkers and therapeutic agents. There is an additional value of genetic testing in HCM for prognosis. Knowledge about genetics and functional studies are the basis of near future therapies.


Assuntos
Cardiomiopatia Hipertrófica/genética , Predisposição Genética para Doença/genética , Mutação , Sarcômeros/genética , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico , Morte Súbita Cardíaca/etiologia , Estudos de Associação Genética , Testes Genéticos , Humanos
3.
Leg Med (Tokyo) ; 11 Suppl 1: S360-2, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19403323

RESUMO

UNLABELLED: In the present work, we have compared the behaviour of some commonly used markers for the immunohistochemical diagnosis of cardiac suffering (myoglobin, myosin, troponin I), with the modifications of the ionic quotients (K(+)/Na(+), Ca(2+)/Mg(2+) and Ca(2+)/Zn(2+)) that are observed in the interventricular partition in different causes of death. MATERIALS AND METHOD: we have studied a total of 50 hearts coming from autopsies carried out in the Legal Medicine Institute of Murcia (Spain) deceased 21 by natural cardiac deaths, 9 by mechanical asphyxias, 5 by politraumatism, 5 cardiac ruptures and 10 by craneoencephalic trauma. For the biochemical analysis, samples were taken from weave of 0.5 g of the interventricular partition, the corresponding dilutions were made in bidistilled water for flame atomic absorption spectrophotometry with a hollow cathode multielement lamp. For the immunohistochemical study, samples were taken from the same locations, kept in tamponed formol, dyed with hematoxylin-eosin and later 3 microm-sections were practised, antigenic recovery by heat, in pressure cooker. Our results show the existence of a statistically significant relation between the modifications of the K(+)/Na(+) quotient and the found values of troponin, which confirms its utility for the precocious diagnosis of the cardiac ischemia.


Assuntos
Íons/metabolismo , Isquemia Miocárdica/diagnóstico , Miocárdio/metabolismo , Miocárdio/patologia , Oligoelementos/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/metabolismo , Feminino , Patologia Legal , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Mioglobina/metabolismo , Miosinas/metabolismo , Espectrofotometria Atômica , Troponina I/metabolismo , Adulto Jovem
4.
Forensic Sci Int ; 172(2-3): 112-8, 2007 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-17306944

RESUMO

The determination of the date of death from bone remains is of scientific interest but also has important legal implications. The establishment of the postmortem interval (PMI) is a very complex problem because of the great number of intrinsic factors that may alter the normal course of postmortem change, such as the age, sex, constitution and previous physiological and pathological states of the subject, and external factors. In order to evaluate the utility of X-ray diffraction and the measurement of some components in dating bone remains, a total of 69 long bones from 69 different cadavers (41 males, 28 females) with a mean age of 68 years (S.D.=17.6, range 12-97) were used. The bones were removed from cement tombs of Murcia Cemetery, where they had lain for documented times of between 7 and 54 years (S.D.=11.6, mean time 17.6 years). We have studied potassium, sulphur, nitrogen, urea, total protein, phosphorus, and some X-ray diffraction (XRD) parameters related to the degree of crystallinity of the mineral component in medullar and cortical bone zones to establish which of the two provides the most useful information for calculating the PMI. In the overall analysis of our data, we believe that the use of both XRD and biochemical analyses (especially of urea, potassium and sulphur) particularly in the cortical zone of the bone could be an alternative method for dating osseous remains.


Assuntos
Osso e Ossos/patologia , Patologia Legal/métodos , Mudanças Depois da Morte , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/análise , Osso e Ossos/química , Cadáver , Criança , Análise Discriminante , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nitrogênio/análise , Fósforo/análise , Potássio/análise , Proteínas/análise , Enxofre/análise , Fatores de Tempo , Ureia/análise , Difração de Raios X/métodos
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