Morlans M.P.,Hospital Universitario Of Canarias |
Delgado F.J.G.,Institute Medicina Legal |
Suarez-Sola M.L.,Institute Medicina Legal |
Sottocornola R.,University of Oxford |
Lu X.,University of Oxford
Brain Research | Year: 2011
p63 and p73, family members of the tumor suppressor p53, are critically involved in the life and death of mammalian cells. They display high homology and may act in concert. The p73 gene is relevant for brain development, and p73-deficient mice display important malformations of the telencephalon. In turn, p63 is essential for the development of stratified epithelia and may also play a part in neuronal survival and aging. We show here that p63 and p73 are dynamically expressed in the embryonic and adult mouse and human telencephalon. During embryonic stages, Cajal-Retzius cells derived from the cortical hem co-express p73 and p63. Comparison of the brain phenotypes of p63- and p73- deficient mice shows that only the loss of p73 function leads to the loss of Cajal-Retzius cells, whereas p63 is apparently not essential for brain development and Cajal-Retzius cell formation. In postnatal mice, p53, p63, and p73 are present in cells of the subventricular zone (SVZ) of the lateral ventricle, a site of continued neurogenesis. The neurogenetic niche is reduced in size in p73-deficient mice, and the numbers of young neurons near the ventricular wall, marked with doublecortin, Tbr1 and calretinin, are dramatically decreased, suggesting that p73 is important for SVZ proliferation. In contrast to their restricted expression during brain development, p73 and p63 are widely detected in pyramidal neurons of the adult human cortex and hippocampus at protein and mRNA levels, pointing to a role of both genes in neuronal maintenance in adulthood. © 2010 Elsevier B.V.
Calzada Reyes A.,Institute Medicina Legal |
Oliveros Delgado Y.C.,Institute Medicina Legal
Cuadernos de Medicina Forense | Year: 2012
Acute stress disorder may be the secondary to a serious injury or a threat to physical integrity. Given this situation, the individual responds with a series of cognitive, behavioral, emotional and physical reactions all orchestrated by a governing body: the brain. A case of a patient with acute stress disorder, which appears after being attacked in her job place, is presented. A 55-year old woman, with antecedents of adequate job performance, begins to show behavioral changes evidenced by irritability, fear, anxiety, nervousness and jumpiness after the traumatic event. She does not want to go alone into the street, explains malaise when remembering the traumatic event and loss of emotional and labour stability. At the time when the assessment is made, the patient was being treated with antidepressants and anxiolytics. It is recommended to integrate electrophysiological, psychophysiological and methods of clinometric evaluation as complements for the diagnosis of this entity.
Martin Cazorla F.,Institute Medicina Legal |
Sanchez Blanque J.L.,Institute Medicina Legal |
Santos Amaya I.M.,University of Malaga
Revista Espanola de Medicina Legal | Year: 2011
Introduction and objectives: An increase in the death by drowning in irrigation reservoirs has been observed over the last decade. These irrigation reservoirs arean excellent system for storing irrigation water. It is estimated that there may be about 800,000 irrigation reservoirs in the world, of which more than 6% are in Spain. The main purpose of this article is to conduct a descriptive study of the deaths in irrigation reservoirs in the province of Almeria (Spain) between September 2003 and December 2010 and to determine the characteristics of the individuals who die in these facilities. Material and methods: We selected cases of death in irrigation reservoirs where the autopsy was performed in the Institute of Legal Medicine in Almeria (IML) between September 2003 and December 2010 (both inclusive). This period was chosen as it was the date on which the IML came into operation. Data were entered in an Excel database and were treated statistically using the SPSS system. Results: Nineteen autopsies were performed on subjects who died in irrigation reservoirs in the province. Of these,18 were male, with a mean age of 28 years and mostly foreigners. The deaths particularly occurred during the summer season and between 12 and 0 hours. In all cases suffocation by drowning was established as the cause of death using biological and histopathological studies. Conclusions: This study shows that the majority of deaths in irrigation reservoirs were foreigners, and almost half of them had previously consumed alcohol. In all the cases the diagnosis was suffocation by drowning. © 2011 Asociación Nacional de Médicos Forenses. Published by Elsevier España, S.L. All rights reserved.
Perez-Ortiz J.M.,Complejo Hospitalario Universitario Of Albacete |
Garcia-Gutierrez M.S.,University Miguel Hernández |
Garcia-Gutierrez M.S.,Institute Salud Carlos III |
Navarrete F.,University Miguel Hernández |
And 4 more authors.
Psychoneuroendocrinology | Year: 2013
Recent reports suggest that FKBP5 gene and its corresponding FKBP5 protein play a relevant role in the regulation of anxiety and depression in animal models and human stress-related disorders. In the present study, FKBP5 and glucocorticoid receptor (GR) gene and protein expression were analyzed in the amygdala (AMY) of suicide victims (n= 13 males, without clinical psychiatric history and non-treated with anxiolytic or antidepressant drugs) and its corresponding controls (n= 13 males) by real-time PCR and Western blotting. The results revealed that FKBP5 and GR gene expression were significantly reduced in the AMY (-38% and -48%, respectively) of suicide victims compared with controls. Interestingly, FKBP5 and GR protein expression were also significantly decreased (-41% and -42%, respectively) in the AMY of suicide victims compared with controls. These results suggest that the FKBP5 plays a relevant role in human emotional responses and suggest this receptor as a new promising target in the treatment of suicide behavior. © 2012 Elsevier Ltd.
Martinez Negrin Y.,Institute Medicina Legal
Revista Cubana de Medicina General Integral | Year: 2016
Introduction: Violence in the child and adolescent Cuban population has been scarcely studied from a gender approach. Objective: To determine the gender violence patterns thought time in studies previously carried out in Havana. Methods: Descriptive, retrospective and cross-sectional study of four investigations carried out in Havana Institute of Legal Medicine (1990-2010), about mistreatment of boys and girls under the age of 16 years, with victims or authors of violent crimes. Descriptive statistics methods were used, together with the frequencies comparison by the chi-square test and variables association by the Odds Ratio test with its confidence interval. Results: In the first two studies related with sexual crimes, there was a predominance of the female sex regarding the victims, with no difference between the two studies (246 girls/total: 320) (p< 0.0001). In the third one, related with nonsexual violence, gender differences were not found. In the fourth study, regarding law-offending boys and girls, there was a predominance of the male sex (p< 0.005): 26 boys vs. 2 girls. Conclusions: Violence is found to be related with the gender issue. There was predominance of the female sex in sexual crimes and of the male sex as criminal law offenders. The existence is reaffirmed of a historical, cultural and social pattern guided towards what is expected from both genders: girls and adolescents and sexual objects and passive being and the man as active subject and responsible for submitting the woman. © 2016, Editorial Ciencias Medicas. All rights reserved.
Hamonet C.,University Paris Est Creteil |
Magalhaes M.T.,Institute Medicina Legal
Journal de Readaptation Medicale | Year: 2015
The notions of rehabilitation and handicap are at the origin of a number of misinterpretations and confusions, which cause a considerable amount of damage to a fair recognition of a social issue well beyond health considerations. However, establishing meaningful connections between disease, injury, accident, functional damage, disabling situation is essential for an organized medicine and, in particular, for the physical and rehabilitation medicine. The four dimensions approach of handicap facilitates a structured methodology of rehabilitation, which can assign a role to each participant, providing him with a methodological framework. This framework will guarantee a seamless process of rehabilitation from the inception of the lesion to the patient resuming his activities and beyond. We propose a new definition of rehabilitation: "it is the combination of medical, psychological and social treatments which allows a person in a disabling situation, or at risk of disability, due to one or more functional restrictions, to live a life with the highest degree of autonomy as possible". These reflections on the concept of rehabilitation are topical, as unclear and inappropriate definitions of disability for the Rehabilitation medicine are suggested by the WHO. © 2015 Published by Elsevier Masson SAS.
Trindade-Filho A.,Institute Medicina Legal |
Trindade-Filho A.,University of Brasilia |
Ferreira S.,Institute Pesquisa Of Dna Forense |
Oliveira S.F.,University of Brasilia
Genetics and Molecular Biology | Year: 2013
Deficiency paternity cases, characterized by the absence of the alleged father, are a challenge for forensic genetics. Here we present four cases with a female child and a deceased alleged father in which the analysis of a set of 21 or 22 autosomal STRs (AS STRs) produced results within a range of doubt when genotyping relatives of the alleged father. Aiming to increase the Paternity Index (PI) and obtain more reliable results, a set of 10 X-linked STR markers, developed by the Spanish and Portuguese Group of the International Society for Forensic Genetics (ISFG), was then added. Statistical analysis substantially shifted the results towards the alleged fatherhood in all four cases, with more dramatic changes when the supposed half-sister and respective mother were the relatives tested. © 2013, Sociedade Brasileira de Genética. Printed in Brazil.
PubMed | San Cecilios Universitary Hospital, Institute Medicina Legal and University of Granada
Type: Journal Article | Journal: Forensic science, medicine, and pathology | Year: 2016
The main objective of this study was to test, for the first time, a highly sensitive cardiac troponin T (cTnThs) assay in postmortem serum and pericardial fluid and to evaluate cardiac troponin T (cTnT) levels and their stability after death at different postmortem intervals, in an attempt to determine the viability of the cTnThs assay in the postmortem diagnosis of the cause of death.cTnT levels were determined in serum and pericardial fluid samples taken from 58 cadavers at known postmortem intervals, whose causes of death were categorized into the following groups: (1) sudden cardiac deaths, (2) multiple trauma, (3) mechanical asphyxia, and (4) other natural deaths. cTnT was determined by inmunoassay, using the Troponin T highly sensitive STAT assay (Roche()).Average cTnT levels measured by a highly sensitive assay in postmortem serum were markedly higher than clinical serum levels. Moreover, similar results, higher cTnT levels in postmortem pericardial fluid, were obtained when compared to levels found in pericardial fluid taken from two living patients during coronary artery bypass surgery. cTnT levels in both postmortem fluids remained stable for up to 34h after death. No differences in cTnT levels in either postmortem fluid by sex and age were detected. Levels of cTnT found in pericardial fluid in the other natural deaths group were significantly lower than the cTnT levels found in that postmortem fluid from any of the other causes of death groups.It is therefore reasonable to conclude that determination of cTnT by a highly sensitive assay in pericardial fluid can provide forensic pathologists with a complementary test to the diagnosis of cause of death.
PubMed | Polytechnic University of Valencia, Institute Investigacion Sanitaria La Fe, Institute Medicina Legal and Hospital Universitario Dr Peset
Type: Journal Article | Journal: Liver international : official journal of the International Association for the Study of the Liver | Year: 2016
Non-alcoholic fatty liver disease (NAFLD) appears to be a new risk factor for the development of coronary artery disease (CAD). Members of a class of non-coding RNAs, termed microRNAs (miRNAs), have been identified as post-transcriptional regulators of cholesterol homoeostasis and can contribute to the development of NAFLD. The aims of this study were to (i) to assess the relationship between NAFLD and sudden cardiac death (SCD) from severe CAD in forensic autopsies and (ii) to quantify several hepatic miRNAs previously associated with lipid metabolism and NAFLD to correlate their expression with the presence of NAFLD, CAD, obesity parameters and postmortem lipid profile.A total of 133 cases of autopsies with SCD and established CAD (patient group, CAD-SCD) and 106 cases of non-CAD sudden death (control group, non-CAD-SD) were included. miRNAs were quantified in frozen liver tissues.Males predominated in both groups. Patients more frequently exhibited NAFLD and necroinflammatory steatohepatitis (NASH) than controls (62% vs 26%, P = 0.001 and 42% vs 26%, P = 0.001 respectively). In both groups, the presence of NAFLD correlated with body mass index and abdominal circumference (P < 0.05). An increase in miR-34a-5p and a decrease in miR-122-5p and -29c-3p in patients with NASH vs controls without NAFLD were observed (P < 0.05). Finally, significant correlations between miR-122-5p and unfavourable lipid profile and also hs-CRP and miR-34a-5p were noted.CAD is associated with NAFLD and NASH. The hepatic miRNAs studied appear to be associated with NAFLD severity and may promote CAD through lipid metabolism alteration and/or promotion of the systemic inflammation.
PubMed | Institute Investigacion Biomedica INIBIC, Imperial College London, Hospital Universitario Virgen Of Las Nieves, Hospital Universitario Puerta Of Hierro Majadahonda and 17 more.
Type: Journal Article | Journal: Journal of the American College of Cardiology | Year: 2016
Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death.The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies.FLNC was studied using next-generation sequencing in 2,877 patients with inherited cardiovascular diseases. A characteristic phenotype was identified in probands with truncating mutations in FLNC. Clinical and genetic evaluation of 28 affected families was performed. Localization of filamin C in cardiac tissue was analyzed in patients with truncating FLNC mutations using immunohistochemistry.Twenty-three truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogenic, or restrictive cardiomyopathies. Truncating FLNC mutations were absent in patients with other phenotypes, including 1,078 patients with hypertrophic cardiomyopathy. Fifty-four mutation carriers were identified among 121 screened relatives. The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negative T waves and low QRS voltages on electrocardiography (33%); ventricular arrhythmias (82%); and frequent sudden cardiac death (40 cases in 21 of 28 families). Clinical skeletal myopathy was not observed. Penetrance was >97% in carriers older than 40 years. Truncating mutations in FLNC cosegregated with this phenotype with a dominant inheritance pattern (combined logarithm of the odds score: 9.5). Immunohistochemical staining of myocardial tissue showed no abnormal filamin C aggregates in patients with truncating FLNC mutations.Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC.