RESUMO
Both the functions and equipment of dermatologists have increased over the past few years, some examples being cosmetic dermatology, artificial intelligence, tele-dermatology, and social media, which added to the pharmaceutical industry and cosmetic selling has become a source of bioethical conflicts. The objective of this narrative review is to identify the bioethical conflicts of everyday dermatology practice and highlight the proposed solutions. Therefore, we conducted searches across PubMed, Web of Science and Scopus databases. Also, the main Spanish and American deontological codes of physicians and dermatologists have been revised. The authors recommend declaring all conflicts of interest while respecting the patients' autonomy, confidentiality, and privacy. Cosmetic dermatology, cosmetic selling, artificial intelligence, tele-dermatology, and social media are feasible as long as the same standards of conventional dermatology are applied. Nonetheless, the deontological codes associated with these innovations need to be refurbished.
RESUMO
Both the functions and equipment of dermatologists have increased over the past few years, some examples being cosmetic dermatology, artificial intelligence, tele-dermatology, and social media, which added to the pharmaceutical industry and cosmetic selling has become a source of bioethical conflicts. The objective of this narrative review is to identify the bioethical conflicts of everyday dermatology practice and highlight the proposed solutions. Therefore, we conducted searches across PubMed, Web of Science and Scopus databases. Also, the main Spanish and American deontological codes of physicians and dermatologists have been revised. The authors recommend declaring all conflicts of interest while respecting the patients' autonomy, confidentiality, and privacy. Cosmetic dermatology, cosmetic selling, artificial intelligence, tele-dermatology, and social media are feasible as long as the same standards of conventional dermatology are applied. Nonetheless, the deontological codes associated with these innovations need to be refurbished.
RESUMO
OBJECTIVE: It is biologically plausible that occupational and environmental pesticide exposure may contribute to breast cancer risk. Persistent chemical compounds, such as pesticides, tend to be lipophilic and are detected in human breast milk and adipose tissue. Therefore, the present systematic review aims to clarify the gender difference in breast cancer concerning pesticide exposure. MATERIALS AND METHODS: A total of 70 studies satisfied the inclusion criteria and were included in the systematic review. RESULTS: From the studies analyzed, it was observed that exposure to pesticides could be a risk factor for breast cancer in women, in particular in young women and in women who experienced menarche at a young age. In contrast, no association was found for breast cancer in men. Female breast cancer is correlated with estrogen receptor-negative tumor characteristics. Breast cancer in men was no correlated with pesticide exposure. CONCLUSIONS: Breast cancer in women has been linked to estrogen receptor positivity, but this positivity appears to be inversely related to fertility. The estrogen-like effects of organochlorine pesticides could be the cause of the observed gender differences.
Assuntos
Neoplasias da Mama/induzido quimicamente , Exposição Ambiental/efeitos adversos , Hidrocarbonetos Clorados/efeitos adversos , Praguicidas/efeitos adversos , Feminino , Humanos , Masculino , Fatores de Risco , Caracteres SexuaisRESUMO
The Y-chromosomal genetic landscape of South America is relatively homogenous. The majority of native Amerindian people are assigned to haplogroup Q and only a small percentage belongs to haplogroup C. With the aim of further differentiating the major Q lineages and thus obtaining new insights into the population history of South America, two individuals, both belonging to the sub-haplogroup Q-M3, were analyzed with next-generation sequencing. Several new candidate SNPs were evaluated and four were confirmed to be new, haplogroup Q-specific, and variable. One of the new SNPs, named MG2, identifies a new sub-haplogroup downstream of Q-M3; the other three (MG11, MG13, MG15) are upstream of Q-M3 but downstream of M242, and describe branches at the same phylogenetic positions as previously known SNPs in the samples tested. These four SNPs were typed in 100 individuals belonging to haplogroup Q.
Assuntos
Cromossomos Humanos Y , Indígenas Sul-Americanos/genética , Polimorfismo de Nucleotídeo Único , HumanosRESUMO
One of the main objectives of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the area of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop activities in scientific aspects of general interest. One of them, the Mixture Commission of GHEP-ISFG, has organized annually, since 2009, a collaborative exercise on analysis and interpretation of autosomal short tandem repeat (STR) mixture profiles. Until now, three exercises have been organized (GHEP-MIX01, GHEP-MIX02 and GHEP-MIX03), with 32, 24 and 17 participant laboratories respectively. The exercise aims to give a general vision by addressing, through the proposal of mock cases, aspects related to the edition of mixture profiles and the statistical treatment. The main conclusions obtained from these exercises may be summarized as follows. Firstly, the data show an increased tendency of the laboratories toward validation of DNA mixture profiles analysis following international recommendations (ISO/IEC 17025:2005). Secondly, the majority of discrepancies are mainly encountered in stutters positions (53.4%, 96.0% and 74.9%, respectively for the three editions). On the other hand, the results submitted reveal the importance of performing duplicate analysis by using different kits in order to reduce errors as much as possible. Regarding the statistical aspect (GHEP-MIX02 and 03), all participants employed the likelihood ratio (LR) parameter to evaluate the statistical compatibility and the formulas employed were quite similar. When the hypotheses to evaluate the LR value were locked by the coordinators (GHEP-MIX02) the results revealed a minor number of discrepancies that were mainly due to clerical reasons. However, the GHEP-MIX03 exercise allowed the participants to freely come up with their own hypotheses to calculate the LR value. In this situation the laboratories reported several options to explain the mock cases proposed and therefore significant differences between the final LR values were obtained. Complete information concerning the background of the criminal case is a critical aspect in order to select the adequate hypotheses to calculate the LR value. Although this should be a task for the judicial court to decide, it is important for the expert to account for the different possibilities and scenarios, and also offer this expertise to the judge. In addition, continuing education in the analysis and interpretation of mixture DNA profiles may also be a priority for the vast majority of forensic laboratories.
Assuntos
Repetições de Microssatélites , Humanos , Inquéritos e QuestionáriosRESUMO
There has been very little work published on the variation of reporting practices of mixtures between laboratories, but it has been previously demonstrated that there is little consistency. This is because there is no current uniformity of practice, so different laboratories will operate using different rules. The interpretation of mixtures is not solely a matter of using some software to provide 'an answer'. An assessment of a case will usually begin with a consideration of the circumstances of a crime. Assumptions made about the numbers of contributors follow from an examination of the electropherogram(s)--and these may differ between the prosecution and the defence hypotheses. There may be a necessity to evaluate several sets of hypotheses for any given case if the circumstances are uncertain. Once the hypotheses are formulated, the mathematical analysis is complex and can only be accomplished by the use of specialist software. In order to obtain meaningful results, it is essential that scientists are trained, not only in the use of the software, but also in the methodology to understand the likelihood ratio concept that is used. The Euroforgen-NoE initiative has developed a training course that utilizes the LRmix program to carry out the calculations. This software encompasses the recommendations of the ISFG DNA commissions on mixture interpretation and is able to interpret samples that may come from two or more contributors and may also be partial profiles. Recently, eighteen different laboratories were trained in the methodology. Afterwards they were asked to independently analyze two different cases with partial mixture DNA evidence and to write a statement court-report. We show that by introducing a structured training programme, it is possible to demonstrate, for the first time, that a high degree of standardization, leading to uniformity of results can be achieved by participating laboratories.
Assuntos
Impressões Digitais de DNA/normas , Laboratórios/normas , Funções Verossimilhança , Software , Europa (Continente) , Humanos , Estatística como Assunto/educaçãoRESUMO
PURPOSE: General practitioners play or should play a role in occupational medicine (OM), either in diagnosing occupational diseases or in counseling on return to work. Nevertheless, their training has been reported to be insufficient in most single country studies. AIMS: The objectives of this study were to analyze the content and extent of undergraduate teaching of OM in European medical schools. METHODS: An e-mail questionnaire survey of the teaching of OM to undergraduates was undertaken from December 2010 to April 2011 in all medical schools and medical faculties listed in 27 European countries (n = 305). RESULTS: Among the 305 universities identified, 135 answered to the questionnaire, giving a response rate of 44%. The mean number of hours given to formal instruction in occupational medicine to medical undergraduates was 25.5 h. Nevertheless, this number of hours varied widely between countries, but also within countries. Overall, 27% of medical schools gave their students 10 h of teaching or less, 52% 20 h or less and 69% 30 h or less. Whereas occupational diseases and principles of prevention were covered in most schools, disability and return to work were very poorly represented among the topics that were taught to students. CONCLUSION: Dedicated undergraduate teaching on occupational health or OM in European medical schools is present in most medical schools, usually at a low level, but is very variable between and within countries. Medical schools across Europe are very unequal to provide qualifying doctors education on the topics they will frequently come across in their working lives.
Assuntos
Educação de Graduação em Medicina/métodos , Medicina do Trabalho/educação , Faculdades de Medicina/estatística & dados numéricos , Currículo , Educação de Graduação em Medicina/estatística & dados numéricos , Europa (Continente) , Inquéritos Epidemiológicos , Humanos , Inquéritos e QuestionáriosRESUMO
Ancient molecular typing depends on DNA survival in archaeological bones. Finding valuable tools to predict DNA presence in ancient samples, which can be measured prior to undertaking a genetic study, has become an important issue as a consequence of the peculiarities of archaeological samples. Since the survival of DNA is explained by complex interrelations of multiple variables, the aim of the present study was to analyze morphological, structural, chemical, and biological aspects of a set of medieval human bones, to provide an accurate reflection of the state of preservation of the bony components and to relate it with DNA presence. Archaeological bones that yielded amplifiable DNA presented high collagen content (generally more than 12%), low racemization values of aspartic acid (lesser than 0.08), leucine and glutamic acid, low infrared splitting factor, small size of crystallite, and more compact appearance of bone in the scanning electron micrographs. Whether these patterns are characteristic of ancient bones or specific of each burial site or specimen requires further investigation.
Assuntos
Osso e Ossos/química , DNA/análise , Tipagem Molecular/métodos , Paleontologia/métodos , Ácido Aspártico/análise , Ácido Aspártico/química , Colágeno/análise , Colágeno/química , DNA/química , Durapatita/análise , Durapatita/química , História Medieval , Humanos , Isomerismo , Microscopia Eletrônica de Varredura , EspanhaRESUMO
South America and especially the Amazon basin is known to be home to some of the most isolated human groups in the world. Here, we report on a study of mitochondrial DNA (mtDNA) in the Waorani from Ecuador, probably the most warlike human population known to date. Seeking to look in more depth at the characterization of the genetic diversity of this Native American tribe, molecular markers from the X and Y chromosomes were also analyzed. Only three different mtDNA haplotypes were detected among the Waorani sample. One of them, assigned to Native American haplogroup A2, accounted for more than 94% of the total diversity of the maternal gene pool. Our results for sex chromosome molecular markers failed to find close genetic kinship between individuals, further emphasizing the low genetic diversity of the mtDNA. Bearing in mind the results obtained for both the analysis of the mtDNA control region and complete mitochondrial genomes, we suggest the existence of a 'Waorani-specific' mtDNA lineage. According to current knowledge on the phylogeny of haplogroup A2, we propose that this lineage could be designated as subhaplogroup A2s. Its wide predominance among the Waorani people might have been conditioned by severe genetic drift episodes resulting from founding events, long-term isolation and a traditionally small population size most likely associated with the striking ethnography of this Amazonian community. In all, the Waorani constitute a fine example of how genetic imprint may mirror ethnopsychology and sociocultural features in human populations.
Assuntos
Variação Genética , Indígenas Sul-Americanos/genética , DNA Mitocondrial/genética , Equador , Feminino , Deriva Genética , Genética Populacional , Haplótipos , Humanos , Dados de Sequência Molecular , FilogeniaRESUMO
Objetivo: Comparar el perfil de las víctimas de violencia extranjeras con el perfil de las víctimas españolas. Métodos: Estudio observacional unicéntrico retrospectivo de víctimas de agresiones asistidas en urgencias del Hospital Nuestra Señora de Gracia (HNSG) de Zaragoza durante el año 2009. Resultados: Se analizaron 1.714 pacientes víctimas de violencia. La población extranjera tenía características distintas a la población española, con una mayor tasa de agresiones(41,2%) y mayor gravedad de las lesiones. Los grupos mayoritarios procedían de Iberoamérica (14,7%), norte de África (8,8%) y Europa oriental (8,7%). Las víctimas de origen chino eran las menos numerosas (2,4%). La edad media de los españoles era 36,4 (DE: 14,0) y de los extranjeros 32,1 (DE: 9,2) (p < 0,001). En todos los casos fue significativamente mayor el número de hombres que el de mujeres (p < 0,001). No hubo diferencias entre la proporción de hombres españoles (59,6%) y la de extranjeros(61,0%), con la excepción de África del norte (84%). El número de agresiones a causa de la violencia de género fue mayor (p < 0,001) entre los extranjeros (30,0%) que entre el grupo de españoles (20,5%). Los pacientes procedentes de Iberoamérica tuvieron la mayor tasa de violencia de género (40,2%). Le siguieron Europa oriental (30,9%) y África subsahariana (28,7%). Destaca la escasa presencia proporcional de África del norte con sólo un 15,2%. El diagnóstico más frecuente en todos los casos fue las lesiones que no necesitan ningún tratamiento médico, 91,2% en españoles, 82,3% en extranjeros(..) (AU)
Objective: To compare the profile of foreigners in Spain who are victims of violent attacks to the profile of Spanish victims. Methods: Retrospective observational single-centre study of victims of violent attacks who were treated in the emergency department in 2009. Variables collected were nationality, age, sex, type of violence, and diagnosis. Results: Medical records for 1714 victims were analyzed. Foreign and Spanish victims had different profiles. Foreigners suffered 41.2% of attacks, a higher percentage than their weight in the population, and they also sustained more serious injuries. The largest victim groups were from Latin America (14.7%), North Africa (8.8%), and Eastern Europe (8.7%). Chinese victims formed the smallest group (2.4%). The mean (SD) ages of Spanish and foreign victims were 36.4 (14.0) years and 32.1 (9.2) years, respectively (P<.001). Significantly more men than women were victims in all groups (P<.001). The percentages of men were similar for Spanish (59.6%) and foreign (61.0%) victims in general, with the exception of North Africans, a group in which many more men were victims (84%). Gender-related violence was more common among foreign-born victims (30.0%) than among Spanish victims (P<.001). Latin Americans had the highest rate of gender-related violence at 40.2%, followed by Eastern Europeans (30.9%) and sub-Saharan Africans (28.7%). The percentage of gender-related violence among North Africans was low (15.2%). Most cases involved injuries not requiring medical treatment; 91.2% of the Spanish victims and 82.3% of the foreign-born victims were in that group (P<.001). Injuries requiring some form of medical treatment (non specialist emergency care, specialized emergency care and/or hospitalization, and life-threatening injuries) were sustained by 5.5% of the Spanish born victims and 11.7% of the foreigners. North African victims most often required medical attention. (..) (AU)
Assuntos
Humanos , Agressão , Violência/estatística & dados numéricos , Serviços Médicos de Emergência/estatística & dados numéricos , Ferimentos e Lesões/epidemiologia , Vítimas de Crime/estatística & dados numéricos , Emigrantes e Imigrantes/estatística & dados numéricos , Violência Doméstica/estatística & dados numéricosRESUMO
En los últimos años parecen haber aumentado los casos de agresiones de pacientes a trabajadores sanitarios. En Españano existen estudios científicos que hayan abordado esta cuestión. Hemos analizado los datos de una encuesta sobre agresionesen el lugar de trabajo en una muestra estratificada de 1826 profesionales de la salud procedentes de 3 hospitales y 22 centrosde Atención Primaria rurales y urbanos localizados en el noreste y este de España. Encontramos que un 11% de los trabajadoressanitarios han sido víctimas de una agresión física, 5% en más de una ocasión, mientras que un 64% se han vistoexpuestos a comportamientos amenazantes, intimidación o insultos. Alrededor de un 34% han sufrido amenazas e intimidaciónen al menos una ocasión, y 23,8% de forma repetida. En torno al 35% han sido insultados en al menos una ocasión,y 24,3% repetidamente. En general la incidencia era mayor en los hospitales grandes, con niveles muy altos en servicios como accidentes, emergencias y psiquiatría(AU)
In recent years instances of aggression by patients towards health workers appear to have become more frequent. InSpain, no scientific studies appears to have been performed so far on this question. We analyzed questionnaires on workplaceaggression from a stratified sample of 1826 health professionals at 3 hospitals and 22 rural and urban Primary Care facilitieslocated in the Northeast and East of Spain. We found 11% of health workers had been a victim of physical aggression,5% on more than one occasion, while 64% had been exposed to threatening behaviour, intimidation or insults. About34% had suffered threats and intimidation on at least one occasion, and 23.8% repeatedly. Over 35% had been subjectedto insults on at least one occasion, and 24.3% repeatedly. In general the incidence was higher in large hospitals, with veryhigh levels in services such as Accident and Emergency and Psychiatry(AU)
Assuntos
Humanos , Masculino , Feminino , Pessoal de Saúde , Agressão , Pacientes , Atenção Primária à Saúde , Medicina do Trabalho , Saúde Ocupacional , Riscos Ocupacionais , Estudos Multicêntricos como Assunto , Coleta de DadosRESUMO
Single nucleotide polymorphisms (SNPs) in the flanking regions of microsatellite loci (SNPSTRs) help to increase the power of discrimination of short tandem repeat (STR) loci. SNPs are positions in the genome that have been well-conserved over the course of evolution, so analysing them can help distinguish between STR alleles in which the number of repetitions matches due to descent from those which match by chance. This provides support for the determination of biological paternity and other kinship analyses in which mutation needs to be ruled out as grounds for exclusion. Locus D7S820 shows a variable position, SNP rs59186128, in the 5' flanking region. This study is set out (1) to determine the frequencies of SNP rs59186128 in populations with various geographical origins and (2) to estimate the possible contribution of rs59186128 to the allele discrimination of locus D7S820. To that end, individuals from European Caucasoid, Hispanic, and Afro-American populations are studied using denaturing high-performance liquid chromatography, which enables locus rs59186128 to be quickly and highly cost-effectively screened. Moreover, a method is established for determining the haplotypes of SNPSTR rs59186128_D7820. The results show that SNP rs59186128 has a T allele frequency of more than 0.15 in one of the Afro-American populations studied, and the haplotype analysis shows that there is no preferential association between the alleles of SNPSTR rs59186128_D7S820, which supports the idea that they could be useful in forensic applications.
Assuntos
Genética Populacional , Polimorfismo de Nucleotídeo Único , Grupos Raciais/genética , Sequências de Repetição em Tandem , Cromatografia Líquida de Alta Pressão , Impressões Digitais de DNA , Frequência do Gene , Genótipo , Haplótipos , HumanosRESUMO
Cardiac disease is the most common cause of sudden unexpected death. In forensic practice there is a need for more sensitive diagnostic methods for the post-mortem diagnosis of myocardial damage. The aim of this study was to evaluate the association of the markers routinely used for the diagnosis of acute cardiac necrosis (myosin, troponin I and myoglobin with) and the presence of apoptosis, in order to evaluate the utility of apoptosis for use as a diagnostic marker during the early stage of acute myocardial damage. A positive correlation was observed between neovascularization and signs of recent and past necrosis. Not relationship was observed between age at death, post-mortem interval and apoptosis. No statistical association was found between the expression of acute cardiac necrosis markers and the presence of apoptosis.
Assuntos
Apoptose , Miocárdio/metabolismo , Miocárdio/patologia , Mioglobina/metabolismo , Miosinas/metabolismo , Troponina I/metabolismo , Biomarcadores/metabolismo , Feminino , Patologia Legal , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neovascularização PatológicaRESUMO
The use of online teaching tools facilitate the incorporation of self-learning methods. With a view to encouraging convergence in teaching tools and methods in Occupational Legal Medicine, an initiative was set up within the classes of Legal and Forensic Medicine at Saragossa University, as part of the EU funded NetWoRM project, which has been led since 1999 by Ludwig-Maximilians-Universität in Munich (Germany). The interest of medical students in Occupational Legal Medicine has so far been low and in addition different aspects complicate the teaching of Occupational Legal Medicine at medical schools: One reason for the low interest is the limited availability of bedside teaching, one of the students' most favourite and effective way to learn. The reason for that is that most medical schools with occupational departments only have outpatient clinics. "Interesting" patients who be need for educational purposes are therefore only available for a limited part of the day. However, in order to recognize and prevent occupational disorders each medical student and physician needs profound clinical knowledge in Occupational Legal Medicine. This project has proven to be highly efficient in permitting the creation and validation of teaching tools which cover and improve the traditional training of the Occupational Legal Medicine programme imparted in the degree of Medicine.
Assuntos
Instrução por Computador , Medicina Legal/educação , Internet , Medicina do Trabalho/educação , Aprendizagem Baseada em Problemas , Educação de Pós-Graduação em Medicina , Europa (Continente) , Humanos , Estudantes de MedicinaRESUMO
Vitreous humour is routinely sampled in Forensic Medicine as several post-mortem analyses can be performed. However, it is not used for DNA analyses probably due to its scarce cellularity. In these samples, in which the study of nuclear DNA is difficult, the analysis of mtDNA is an alternative approach. The aim of this study was to investigate the utility of vitreous humour for forensic identification purposes. Samples were collected during vitrectomy from retinopathy patients, in collection bags with saline solution. Blood samples were also obtained in order to contrast results. Before DNA organic extraction, several centrifugation steps were needed to concentrate the vitreous humour samples. Unlike blood, direct amplification of 400-bp fragments of the hipervariable regions I and II (HVI and HVII) was not successful, possibly due to damage to the DNA strand caused by the surgery conditions (UV radiation, oxidative stress). Therefore, amplification of two overlapping fragments for each control region was performed in vitreous humour. In order to eliminate undesired products, all samples were purified by an enzymatic method. Thereafter, mtDNA fragments were sequenced using dye terminators in a MegaBACE 500 capillary sequencer. Sequences of HVI and HVII of approximately 400 bp were obtained from all samples. The sequences obtained from each patient matched almost perfectly those from blood. In summary, herein we describe for the first time a methodology suitable for the mtDNA analysis of vitreous humour samples.
Assuntos
Regiões Determinantes de Complementaridade/genética , Impressões Digitais de DNA , DNA Mitocondrial/genética , Corpo Vítreo/metabolismo , Adulto , Fragmentação do DNA , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase , Corpo Vítreo/patologiaRESUMO
El uso de métodos de aprendizaje online facilita la incorporación de métodos de auto-aprendizaje que pueden ser un buen instrumento de apoyo para la enseñanza en un contexto internacional. Con esta filosofía y con la vista puesta en el compromiso de convergencia en métodos de aprendizaje en Medicina del Trabajo y en Medicina Legal, se pues en marcha una iniciativa desde la Cátedra de Me3dicina Legal y Forense de la Universidad de Zaragoza, como parte del Proyecto NetWorm de la Unión Europea, liderado desde 1999 por la Universidad Ludwig-Maximilians de Múnich (Alemania) Este proyecto ha resultado ser de una gran eficiencia, permitiendo la creación y validación de casos en Medicina Legal y del Trabajo en el programa de la Licenciatura en Medicina(AU)
The use of online teaching tools facilitate the incorporation of methods in self-learning which could provide a good instrument for teaching support and even help in common training activities in an international context. Based on this philosophy and with a view to encouraging convergence in teaching tools and methods in Occupational and Legal Medicine, an initiative was set up within the Master Classes of Legal and Forensic Medicine at Saragossa University, par of the EU funded NetWorm project, with has been led since 1999 by Lud wigMaximilians-Universität in Munich (Germany). This project has proven to be highly efficient in permitting the creation and validation of casus in Occupational Legal Medicine programme imparted to students in the Medicine degree(AU)
Assuntos
Humanos , Masculino , Feminino , Aprendizagem/fisiologia , Internet/instrumentação , Internet , Ensino/métodos , Ensino/tendências , Medicina do Trabalho/educação , Medicina do Trabalho/métodos , Medicina Legal/educação , Medicina Legal/tendências , Internet/tendências , Medicina do Trabalho/normas , Medicina do Trabalho/tendências , Medicina Legal/ética , Medicina Legal/normasRESUMO
The human multidrug resistance gene (MDR1) encodes for P-glycoprotein (P-gp) which is a transmembrane transporter protein that acts as an efflux pump for a number of lypophilic compounds. It plays a protective role for cells against DNA damage. The wobble C3435T polymorphism at exon 26 has been associated with different expression levels and activity. Differences in allele frequency of the C3435T polymorphism have been demonstrated between distinct ethnic groups. In our study we examined these polymorphisms in 433 healthy individuals. From these, 229 were Central American mestizos from Nicaragua (n = 117) and El Salvador (n = 112) to be compared with a group of 204 North Spaniards, with the aim of detecting potential genotypic differences between these populations. The genotypes were determined by PCR-RFLP. The frequencies of the C allele were very similar among Central Americans (0.53) and Spaniards (0.52), which is consistent with the ethnic origin of Central American individuals (Amerindians and European Caucasians). In comparison to other previously studied populations, the C allele frequency in Central Americans was significantly lower than that found in African populations and higher than that observed in the Indian and Southwest Asian populations. These data may be relevant for dose recommendation of P-gp substrate drugs and also for studies of allele disease association in the Central American population.
Assuntos
Membro 1 da Subfamília B de Cassetes de Ligação de ATP/genética , Polimorfismo Genético/genética , Alelos , América Central/etnologia , Citidina/genética , Genótipo , Humanos , Espanha/etnologia , Timidina/genéticaRESUMO
En el presente artículo se realiza una revisión de los diferentes métodos de extracción de ADN a partir de muestras biológicas comunes: sangre, semen y saliva. El objetivo de este trabajo es comparar las ventajas e inconvenientes de los diversos procedimientos de extracción, para poder evaluar qué métodos son los más adecuados en las distintas investigaciones forenses. La sangre, el semen y la saliva son evidencias biológicas muy comunes en investigaciones médico-legales, especialmente en crímenes violentos. La sangre y la saliva son excelentes fuentes de ADN, que no presentan grandes dificultades en el proceso de extracción de ADN. Por eso, este tipo de evidencias se utilizan como muestras indubitadas para obtener el perfil genético de las personas implicadas en la investigación. En cambio, la extracción de ADN a partir de muestras de semen puede resultar problemática, ya que es habitual hallar mezclar de semen con células epiteliales vaginales u otros fluidos biológicos procedentes de la víctima. Esto dará lugar a una mezcla de perfiles genéticos en el genotipado de las muestras, por lo que será necesaria la separación de los diferentes tipos celulares para poder discriminar el perfil genético masculino del femenino
We have reviewed the different methods for DNA extraction from common biological samples: blood, semen and saliva. The advantages and disadvantages of the extraction methods have been considered, so that the most adequate techniques in the different forensic investigations can be avaluated. Blood, semen and saliva are very common biological evidences in medical legal investigations, especially in violent assaults. Blood and saliva are excellent DNA sources, which do not present many problems in the DNA extraction process. For this reason, these kinds of evidence are used as reference samples to obtain genetic profiles. Otherwise, the DNA extraction form sperm could be problematic, since it´s usual to find mixtures of sperm and female vaginal cells. In such cases the female DNA could mask the genetic profile of the male component, and it would be necessary to separate the different cell types, so individual DNA profiles can be obtained
Assuntos
DNA/análise , DNA/sangue , DNA , Medicina Legal/legislação & jurisprudência , Medicina Legal/métodos , Marcadores Genéticos/genética , Reação em Cadeia da Polimerase/métodos , Análise Química do Sangue/métodos , Sêmen , Saliva , DNA/genética , Marcadores Genéticos/ética , Marcadores Genéticos/fisiologia , Técnica de Amplificação ao Acaso de DNA Polimórfico , Biologia Molecular/métodos , DNA Polimerase I/análise , DNA/isolamento & purificaçãoRESUMO
Este estudio es una breve revisión de los métodos principales para la extracción de ADN a partir de muestras complejas, como el pelo y tejidos incluidos en parafina, y como han ido evolucionando a lo largo de los años. Desde las primeras técnicas que surgieron, como la extracción orgánica, hasta los nuevos avances tecnológicos. El pelo es uno de los materiales biológicos más comúnmente asociado con las investigaciones medico legales. A pesar de ello, es una muestra delicada, y probablemente la que presente un mayor índice de fracasos a la hora de obtener resultados tras su análisis, después de los restos óseos antiguos. La extracción de ADN a partir de muestras de tejidos incluidos en parafina se realiza usualmente cuando no se dispone de muestras biológicas frescas del individuo implicado en una investigación forense. En estas circunstancias puede obtenerse el genotipo del individuo a partir de muestras antiguas procedentes de biopsias, cirugías o autopsias. Sin embargo, la extracción resulta complicada porque generalmente se trata de un material escaso y degradado
This study is a brief revisión of the main DNA extraction methods for complex samples, like hair and paraffin-embedded tisúes, and how they have evolved through time. We describe from the first techniques, such as organic extraction, to the new technological advances. Hair is one of the biological evidences most commonly associated to medical legal investigations. In spite of this fact, it is a delicate sample, and probably presents the larger failure ratio in order to obtain results, after skeletal remains samples. The Dna extraction from paraffin-embedded tissues samples is usually carried out when there aren´t fresh biological samples from an individual involved in a forensic investigation. In this ´circumstances, we can obtain the individual´s genotipe from old samples coming from biopsy, surgery or autopsy. However, the extraction is complex because generally is a poor and degraded material
Assuntos
DNA/análise , Medicina Legal/legislação & jurisprudência , Medicina Legal/métodos , Marcadores Genéticos/genética , Reação em Cadeia da Polimerase/métodos , Cabelo/anatomia & histologia , Cabelo/química , DNA Mitocondrial/análise , Reação em Cadeia da Polimerase/classificação , Reação em Cadeia da Polimerase , Parafina/análise , Parafina/síntese química , ParafinaRESUMO
La disfonía funcional es una patología que afecta con frecuencia a los profesionales de la voz (cantantes, periodistas, maestros, médicos ), y representa una importante causa de baja laboral. El tratamiento rehabilitador pretende corregir el mal uso y abuso de los órganos de fonación que suelen realizar los afectados, contribuyendo a mejorar la disfonía y a prevenir nuevos episodios. Con el presente trabajo se pudo observar objetivamente la mejoría producida mediante un programa de rehabilitación foniátrica en profesionales de la voz afectados de disfonía (AU)
Functional dysphonia is a condition frequently affecting voice professionals (singers, news reporters, teachers, physicians, etc.), and is an important cause of sick leave among this professional group. Rehabilitation therapy aims at correcting misuse and abuse of the phonation organs that is usually seen among the people affected, thus contributing to the improvement of dysphonia and to the prevention of further episodes. In the course of the here presented study we have been able to objectively observe the improvement achieved through a phoniatric rehabilitation programme among voice professionals suffering dysphonia (AU)