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Resumen: La información genética y genómica requiere regulaciones estrictas para su manejo adecuado con el fin de evitar la divulgación inapropiada y la discriminación secundaria, pues tiene una relación directa con los derechos fundamentales y los principios bioéticos. De ahí la necesidad de evaluar la regulación colombiana existente, por lo que se realizó una revisión sistemática de la literatura en bases de datos del 2000 al 2020, sitios web del Congreso de la República de Colombia, la Comisión de Reforma de la Ley Australiana y la Corte Constitucional de Colombia, para identificar las falencias y los aciertos en la jurisprudencia actual del manejo, el control y la accesibilidad de la población colombiana a las pruebas e información genética. Se toma como referente Australia para comprender y plantear mejoras. Se encontró que en Colombia la información genética se cataloga como sensible (Sentencia C-334-10) con regulaciones inespecíficas sin norma legislativa. En contraste, Australia dispone de directrices bioéticas específicas, penalización y protocolos que abarcan las implicaciones individuales y colectivas descritas en el Privacy Legislation Amendment Act del 2006. Es necesario que en Colombia se cree una regulación jurídica específica para la información genética y genómica con énfasis en pautas de uso sobre la privacidad, la divulgación y la no discriminación.
Abstract: Genetic and genomic information requires strict regulations for its proper handling in order to avoid inappropriate disclosure and secondary discrimination, since it is directly related to fundamental rights and bioethical principles. Hence the need to evaluate the existing Colombian regulation, for which a systematic review of the literature was carried out on databases from 2000 to 2020, websites of the Congress of the Republic of Colombia, the Australian Law Reform Commission and the Constitutional Court of Colombia, to identify the shortcomings and the successes in the current jurisprudence of the management, control and accessibility of the Colombian population to tests and genetic information. Australia is taken as a reference to understand and propose improvements. It was found that in Colombia genetic information is classified as sensitive (Sentence C-334-10) with non-specific regulations without legislative norm. In contrast, Australia has specific bioethical guidelines, criminalization and protocols that cover the individual and collective implications described in the Privacy Legislation Amendment Act of 2006. It is necessary that a specific legal regulation be created for genetic and genomic information with emphasis on usage guidelines on privacy, disclosure and non-discrimination in Colombia.
Resumo: As informações genéticas e genômicas requerem regulamentações rígidas para o seu correto manuseio, a fim de evitar a divulgação inadequada e a discriminação secundária, pois está diretamente relacionada aos direitos fundamentais e aos princípios bioéticos. Daí a necessidade de avaliar a regulamentação colombiana existente, para a qual foi realizada uma revisão sistemática da literatura em bancos de dados de 2000 a 2020, sites do Congresso da República da Colômbia, da Comissão Australiana de Reforma da Lei e do Tribunal Constitucional da Colômbia, identificar as deficiências e os sucessos na jurisprudência atual da gestão, controle e acessibilidade da população colombiana a testes e informação genética. A Austrália é tomada como referência para entender e propor melhorias. Constatou-se que na Colômbia a informação genética é classificada como sensível (Sentença C-334-10) com regulamentações não específicas sem norma legislativa. Por outro lado, a Austrália possui diretrizes bioéticas específicas, criminalização e protocolos que abrangem as implicações individuais e coletivas descritas na Lei de Emenda à Legislação de Privacidade de 2006. É necessário que na Colômbia seja criada uma regulamentação legal específica para informações genéticas e genômicas com ênfase no uso diretrizes sobre privacidade, divulgação e não discriminação.
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RESUMO Introdução: As neoplasias cutâneas não melanoma representam o tipo mais frequente em ambos os sexos no mundo, sendo o carcinoma basocelular o mais prevalente, representando de 75 a 80% dos casos. No Brasil, o número de casos novos esperados para o triênio 2020-2022, será de 83.770 em homens e 93.160 em mulheres, correspondendo a um risco estimado de 80,12 casos novos para 100 mil homens e de 86,65 casos novos para 100 mil mulheres. Este dado demonstra a grande importância do conhecimento genômico na gênese do carcinoma basocelular esporádico. Objetivo: Descrever os principais genes e marcadores moleculares envolvidos na predisposição e na patogênese do carcinoma basocelular não sindrômico. Métodos: Revisão da literatura nas principais bases de dados NCBI-GTR, ClinVar, ClinGen, MedGen, OMIM e GeneReviews , utilizando como descritores: "BCC" e " basal cell carcinoma ". Critérios de inclusão: língua portuguesa ou inglesa, artigos sobre CBC esporádico. Resultados: Foram selecionados treze artigos para análise. A análise revelou uma robusta ligação da via hedgehog na gênese do carcinoma basocelular esporádico, com os principais genes envolvidos representados por PATCH1, PATCH2 e smoothened . As variantes com maior significância clínica foram SMO-M2, PTCH1 e PTCH2-∆22. A mutação mais encontrada fora a relacionada à ação do UVB, sendo representada pela substituição de C>T ou CC>TT no sítio das pirimidinas, tanto no PTCH, quanto no SMO. Conclusão: Extremamente importante aos profissionais que atuam no diagnóstico e tratamento do CBC, dentre os quais os cirurgiões plásticos, pois assim poderão melhor conduzir seus casos, com diagnósticos mais precisos e condutas de prevenção baseadas na suscetibilidade individual de cada paciente, bem como terapêuticas direcionadas e individualizadas com melhores taxas de sucesso.
ABSTRACT Introduction: Non-melanoma skin neoplasms represent the most frequent type in both sexes globally, with basal cell carcinoma being the most prevalent, representing 75 to 80% of cases. In Brazil, the number of new cases expected for the triennium 2020-2022 will be 83,770 in men and 93,160 in women, corresponding to an estimated risk of 80.12 new cases for 100,000 men and 86.65 new cases for 100,000 women. This data demonstrates the great importance of genomic knowledge in the genesis of sporadic basal cell carcinoma. Objective: To describe the main genes and molecular markers involved in the predisposition and pathogenesis of non-syndromic basal cell carcinoma. Methods: Literature review in the main databases NCBI-GTR, ClinVar, ClinGen, MedGen, OMIM and GeneReviews , using as descriptors: "BCC" and " basal cell carcinoma ". Inclusion criteria: Portuguese or EnGLIsh language, articles on sporadic BCC. Results: Thirteen articles were selected for analysis. The analysis revealed a robust hedgehog pathway link in the genesis of sporadic basal cell carcinoma, with the main genes involved represented by PATCH1, PATCH2 and smoothened . The variants with the highest clinical significance were SMO-M2, PTCH1 and PTCH2-∆22. The mutation most found was related to the action of UVB, being represented by the substitution of C>T or CC>TT at the pyrimidine site, both in PTCH and in SMO. Conclusion: Extremely important to professionals working in the diagnosis and treatment of BCC, including plastic surgeons, as this way they can better conduct their cases, with more accurate diagnoses and prevention approaches based on the individual susceptibility of each patient, as well as targeted therapies and individualized with better success rates.
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El objetivo de este artículo es introducir al médico generalista en los adelantos científicos y técnicos de la genética forense. A partir de los trabajos de Mendel en 1865 sobre hibridación en las plantas se sucedieron avances en el conocimiento del ADN y se incorporaron nuevas técnicas de laboratorio, que permitieron detectar en el ADN un sector no codificante. El conocimiento de este sector junto con los adelantos de informática (software) han permitido progresos innovadores en el desarrollo de las técnicas de identificación forense, logrando que la Genética Forense se convierta en un auxiliar de la justicia para la resolución de casos de filiación, el reconocimiento de restos humanos y el descubrimiento de responsables de crímenes a través de la identificación de ADN encontrado en la escena. (AU)
The objective of this article is to introduce the general practitioner to the scientific and technical advances of forensic genetics. From the work of Mendel in 1865 on hybridization in plants, advances were made in the knowledge of DNA and new laboratory techniques were incorporated, which made it possible to detect a non-coding sector in DNA. Knowledge of this sector together with the advances in computer science (software) have allowed innovative progress in the development of forensic identification techniques, making Forensic Genetics an auxiliary of justice, for the resolution of filiation cases, the recognition of human remains and the discover of the person responsible for the crimes through the identification of their DNA found at the scene of a crime. (AU)
Subject(s)
Forensic Genetics/trends , Bioethics , Medical Informatics/trends , DNA , Clinical Laboratory Techniques , Forensic MedicineABSTRACT
Parental exposure to ionizing radiation (IR) can induce mutation in germline that may lead to genome instability, chromosomal aberrations, sex ratio variations, increased cancer susceptibility, and even increased probability of birth defects among their offspring, which substantially increase the burden of hereditary diseases. Up to now, the hereditary effect of IR has been observed in a number of species, but there is lack of evidence in humans. With reference to related studies in China and globally, this article reviews the human epidemiological studies of the hereditary effect of IR and briefly discusses why the hereditary effect of IR is not obvious in humans, so as to provide a reference for future assessment of the hereditary effect of radiation in China.
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BACKGROUND: Human dental pulp stem cells are important oral mesenchymal stem cells with strongproliferation and multidirectional differentiation functions. In-depth studies on the Human Genome Project make people gradually reali ze that functional non-coding RNAs play an extraordinary role in regulating gene expression. OBJECTIVE: To discuss the function and application of non-coding RNAs in human dental pulp stem cells. METHODS: Using “ncRNAs, human dental pulp stem cells, regenerative medicine” as keywords in English and Chinese, the first author searched PubMed, Medline, CNKI, and WanFang for relevant articles published from 2005 to 2019. Literatures unrelated to the purpose of the study and repetitive literatures were excluded, and 71 articles that meet the criteria were included for review. RESULTS AND CONCLUSION: It is now generally believed that non-coding RNAs can be used as a signal of specific cell state, providing prognostic value and even providing treatment options for patients. With the continuous development of regenerative medicine applications, human dental pulp stem cells are arousing increasing attentions. Exploration on the relationship between non-coding RNAs and human dental pulp stem cells provides a new approach for the clinical application of human dental pulp stem cells.
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Introducción: La introducción de las tecnologías ómicas en la práctica clínica requiere que los profesionales de la salud incorporen conocimientos al respecto. Objetivo: Evaluar los conocimientos sobre tecnologías ómicas de los médicos que inician los estudios de especialidad en el nivel secundario de atención médica. Métodos: Se aplicó un cuestionario a 53 profesionales de la salud, quienes comenzaron sus residencias médicas, tanto clínicas como quirúrgicas, en el Hospital General Docente "Dr. Ernesto Guevara de la Serna" de Las Tunas, Cuba. Se indagó por cuestionario y de forma anónima acerca del conocimiento sobre las pruebas de biología molecular, genéticas y farmacogenéticas, la secuenciación del genoma y las bases de datos de información biológica disponibles en internet. Resultados: El 37,7 por ciento de los participantes no conocía acerca de las pruebas de biología molecular y solo el 3,8 por ciento refirió saber sobre la secuenciación de nueva generación. Aunque el 90,6 por ciento de los interrogados estaban al tanto de alguna prueba genética, ninguno pudo mencionar una correctamente. Solo el 20,8 por ciento declaró su conocimiento de algún gen de susceptibilidad a enfermedades. La posibilidad de secuenciar el genoma completo fue reconocida por el 49,1 por ciento de la muestra. El 90,6 por ciento de los encuestados manifestó interés en recibir información al respecto. Conclusiones: Existe un insuficiente conocimiento sobre las tecnologías ómicas en los participantes en la investigación. Se requiere capacitar a los profesionales de la salud para enfrentar la introducción de la medicina genómica en la práctica clínica, lo que puede y debe hacerse desde la formación médica inicial(AU)
Introduction: The introduction of omic technologies into the clinical practice requires that health professionals incorporate knowledge in this field. Objective: To assess the knowledge about omic technologies of the physicians who are starting their specialty studies in the secondary level of healthcare. Methods: A questionnaire was conducted on 53 health professionals who started their medical residences, both clinical and surgical, at Dr. Ernesto Guevara de la Serna General Teaching Hospital in Las Tunas, Cuba. Both anonymously and by means of the questionnaire, inquiries were made regarding the knowledge about tests in the fields of molecular biology, genetics and pharmacogenetics, about genome sequencing, and about the biological information databases available on the internet. Results: 37.7 percent of the participants did not know about molecular biology tests and only 3.8 percent reported to have some knowledge about next generation sequencing. Although 90.6 percent of the respondents were aware of some genetic test, none could mention one correctly. Only 20.8 percent declared their knowledge about some disease-susceptibility genes. The possibility of sequencing the entire genome was recognized by 49.1 percent of the sample; 90.6 percent of respondents expressed some interest in receiving information about it. Conclusions: There is insufficient knowledge about omic technologies in the research participants. It is required to train health professionals to face the introduction of genomic medicine into the clinical practice, which can and should be done from the beginning ofthe medical training(AU)
Subject(s)
Humans , Pharmacogenetics , Physicians , Technology , Secondary Care , Genes , Molecular BiologyABSTRACT
Objective: This study aimed to investigate DNA sequences that are substantially homologous to the corresponding RNA sequence sections of the hepatitis C virus (HCV). These DNA sequences are present in the whole DNA extracted from peripheral blood mononuclear cells (PBMCs) of HCV-negative subjects. We presumed that these experimentally proven 5′-noncoding region (5′-NCR) homologous DNA sequences could be contained in the extrachromosomal circular DNA (eccDNA) fraction as part of the whole cellular DNA. Methods: Home-made polymerase chain reaction (PCR) with whole cellular and isolated eccDNA, nucleotide basic local alignment search tool (BLASTn) alignments, and tests for patterns of methylation in selected sequence sections were performed. Results: The PCR tests revealed DNA sequences of up to 320 bp that broadly matched the corresponding sequence sections of known HCV genotypes. In contrast, BLASTn alignment searches of published HCV 5′-NCR sequences with human genome databases revealed only sequence segments of up to 36 bp of the 5′-NCR. The composition of these sequences shows missing base pairs, base pair mismatches as well as complete homology with HCV reference sequences. These short sequence sections are present in numerous copies on both the same and different chromosomes. The selected sequence region within the DNA sequences of the 5′-NCR revealed a broad diversity of individual patterns of methylation. Conclusions: The experimental results confirm our assumption that parts of the HCV 5′-NCR genomic RNA sequences are present at the DNA level in the eccDNA fraction of PBMCs. The tests for methylation patterns therein revealed individual methylomes which could represent an epigenetic feature. The respective sequence section might be subject to genetic regulation.
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Cytokines are small secreted proteins that play an important role in physiological and pathological processes. In the field of pharmacological development, cytokine drugs have achieved great suc-cess. In 2017, five of the world′s top ten best-selling drugs were inhibitors of cytokines or their receptors. The most innovative and challenging work in cytokine research is the discovery of novel cytokines with impor-tant functions and potential druggable prospects. In the post-genome era, a number of novel cytokines have been internationally discovered using reverse biology techniques, and from which, several cytokine drugs have been approved for marketing. This review highlights 10 novel cytokines found in the human genome by the author′s laboratory, including CTRP4, CCDC134, PSMP, VSTM1-v2, FAM3D, TMEM98, CSBF/C10orf99, FAM19A4, FAM19A5 and FAM19A1. Some of them have been shown to have important physio-logical and pathological functions. Identification of functional receptors, clinical specimen analysis or in vivo animal experiment has been carried out for them, which lays the foundation for further research in their clini-cal applications.
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Resumo Além de importante tecnologia da atualidade, o Projeto Genoma Humano é estrutura política e econômica de produção e reprodução de conceito dominante de saúde. Nessa perspectiva, esta pesquisa discute a garantia da autonomia e liberdade de escolha dos padrões físico-biológicos das atuais e futuras gerações em sociedade na qual esses padrões são historicamente reproduzidos por relações de poder. Para tanto, analisa-se o Projeto Genoma Humano considerando a tensão entre constitucionalismo e democracia, de modo a aproximar aportes da bioética, do biodireito e da biopolítica a partir de perspectiva crítica da sociedade. Como resultado, propõe-se, para reflexão, a institucionalização de audiências públicas baseadas no modelo de democracia deliberativa.
Abstract The Human Genome Project constitutes an important contemporary health technology, but it is also a political and economical structure which of production and reproduction of a dominant concept of health. In this perspective, this research aims to discuss the question of the guarantee of autonomy and freedom of choice of the physical-biological patterns of the future generations, in a society in which those patterns are historically reproduced by power relations. For this reason, a methodology of analysis of the Human Genome Project is used in the context of the tension between constitutionalism and democracy, in order to establish an approximation between the contributions of Bioethics, Biolaw and Biopolitics, in the context of a critical perspective of our society. As a result we propose a reflection about the institutionalisation of public hearings articulated from a model of deliberative democracy.
Resumen El Proyecto Genoma Humano constituye una importante tecnología de salud de la contemporaneidad, pero también una estructura política y económica de producción y reproducción de un concepto dominante de salud. En esa perspectiva, esta investigación tiene como objetivo discutir la cuestión de la garantía de la autonomía y de la libertad de elección de los patrones físicos y biológicos de las futuras generaciones, en una sociedad en la cual estos patrones son históricamente reproducidos por relaciones de poder. Para ello, se utiliza una metodología de análisis del PGH en el ámbito de la tensión entre constitucionalismo y democracia, de modo tal de establecer una aproximación entre los aportes de la Bioética, el Bioderecho y la Biopolítica, en el contexto de una perspectiva crítica de la sociedad. Como resultado, se propone para la reflexión la institucionalización de audiencias públicas articuladas a partir de un modelo de democracia deliberativa.
Subject(s)
Politics , Bioethics , Human Genome Project , DemocracyABSTRACT
El genoma humano, como el de todos los mamíferos y aves, es un mosaico de isocoros, los que son regiones muy largas de ADN (>>100 kb) que son homogéneas en cuanto a su composición de bases. Los isocoros pueden ser divididos en un pequeño número de familias que cubren un amplio rango de niveles de GC (GC es la relación molar de guanina+citosina en el ADN). En el genoma humano encontramos cinco familias, que (yendo de valores bajos a altos de GC) son L1, L2, H1, H2 y H3. Este tipo de organización tiene importantes consecuencias funcionales, tales como la diferente concentración de genes, su regulación, niveles de transcripción, tasas de recombinación, tiempo de replicación, etc. Además, la existencia de los isocoros lleva a las llamadas "correlaciones composicionales", lo que significa que en la medida en que diferentes secuencias están localizadas en diferentes isocoros, todas sus regiones (exones y sus tres posiciones de los codones, intrones, etc.) cambian su contenido en GC, y como consecuencia, cambian tanto el uso de aminoácidos como de codones sinónimos en cada familia de isocoros. Finalmente, discutimos el origen de estas estructuras en un marco evolutivo.
The human genome, as the genome of all mammals and birds, are mosaic of isochores, which are very long streches (>> 100 kb) of DNA that are homogeneous in base composition. Isochores can be divided in a small number of families that cover a broad range of GC levels (GC is the molar ratio of guanine+cytosine in DNA). In the human genome, we find five families, which are (going from GC- poor to GC- rich) L1, L2, H1, H2 and H3. This organization has important consequences, as is the case of the concentration of genes, their regulation, transcription levels, rate of recombination, time of replication, etc. Furthermore, the existence of isochores has as a consequence the so called "compositional correlations", which means that as long as sequences are placed in different families of isochores, all of their regions (exons and their three codon positions, introns, etc.) change their GC content, and as a consequence, both codon and amino acids usage change in each isochore family. Finally, we discuss the origin of isochores within an evolutioary framework.
O genoma humano, como todos os mamíferos e aves, é um mosaico de isocóricas, que são muito longas regiões de ADN (>> 100 kb) que são homogéneos na sua composição de base. Isóquos podem ser divididos em um pequeno número de famílias que cobrem uma ampla gama de níveis de GC (GC é a razão molar de guanina + citosina no DNA). No genoma humano, encontramos cinco famílias, que (variando de valores baixos a altos de GC) são L1, L2, H1, H2 e H3. Este tipo de organização tem importantes conseqüências funcionais, como a diferente concentração de genes, sua regulação, níveis de transcrição, taxas de recombinação, tempo de replicação, etc. Além disso, a existência de isocóricas portada chamado "correlações de composição", o que significa que, na medida em que diferentes sequências estão localizados em diferentes isocóricas, todas as regiões (exs e três posições de codões, intrs, etc.) mudam seu conteúdo em GC e, como consequência, alteram tanto o uso de aminoácidos quanto de códons sinônimos em cada família de isócoros. Finalmente, discutimos a origem dessas estruturas em uma estrutura evolucionária.
Subject(s)
Humans , Genome, Human/genetics , Isochores/genetics , Base Composition , Introns/geneticsABSTRACT
CRISPR/Cas9 puede ser considerado el descubrimiento biotecnológico del siglo. Sin embargo, las reflexiones sobre la aceptabilidad y factibilidad de producir cambios permanentes en el ADN de gametos y embriones, ha arrojado nueva luz sobre CRISPR. Por ejemplo al notar que las alteraciones en la línea germinal, pueden ser heredadas y por lo tanto observarse a lo largo de las generaciones. Aunque inicialmente estas transformaciones puedan ser deseables, más allá del impacto tecnológico, la tecnología CRISPR parece tener varias implicancias éticas para la sociedad. Estas pueden ser analizadas a partir de las distintas reacciones que ha despertado CRISPR en todo el mundo. Por ejemplo, en el pedido de suspensión total de la aplicación clínica (es decir, la prohibición de transferir en el útero un embrión previamente modificado con la tecnología CRISPR) hasta tanto no se hayan alcanzado y aprobado ciertos requisitos indispensables para la investigación clínica. En general, esta tecnología ha sido prematuramente caracterizada como "disruptiva". Este texto analizará las implicancias éticas, políticas, sociales, médicas y subjetivas a la luz del fenómeno social - no tecnológico - creado por CRISPR.
CRISPR/Cas9 can be considered the biotechnogical discovery of the century. However, reflections on the plausibility and feasibility of producing permanent changes in the DNA of gametes and embryos throw new light on CRISPR. As in modifications in the germinal line can be inherited and hence, observed throughout generations. While this might be desirable for some, besides the technological impact, CRISPR also seems to have an ethical impact on society. These ethical impacts can be observed in the diverse reactions to CRISPR from across the globe. For instance, a request for the complete suspension of clinical application (that is, the prohibition of implanting an embryo with CRISPR modifications in the uterus) till certain basic research requirements were met and approved. Broadly, this technology has been prematurely also characterized as "disruptive" by some. This paper will analyze these ethical, political, social, medical and subjective reactions in light of the social - not technological - phenomenon created by CRISPR.
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PURPOSE: We aimed to develop molecular classifier that can predict lymphatic invasion and their clinical significance in epithelial ovarian cancer (EOC) patients. MATERIALS AND METHODS: We analyzed gene expression (mRNA, methylated DNA) in data from The Cancer Genome Atlas. To identify molecular signatures for lymphatic invasion, we found differentially expressed genes. The performance of classifier was validated by receiver operating characteristics analysis, logistic regression, linear discriminant analysis (LDA), and support vector machine (SVM). We assessed prognostic role of classifier using random survival forest (RSF) model and pathway deregulation score (PDS). For external validation, we analyzed microarray data from 26 EOC samples of Samsung Medical Center and curatedOvarianData database. RESULTS: We identified 21 mRNAs, and seven methylated DNAs from primary EOC tissues that predicted lymphatic invasion and created prognostic models. The classifier predicted lymphatic invasion well, which was validated by logistic regression, LDA, and SVM algorithm (C-index of 0.90, 0.71, and 0.74 for mRNA and C-index of 0.64, 0.68, and 0.69 for DNA methylation). Using RSF model, incorporating molecular data with clinical variables improved prediction of progression-free survival compared with using only clinical variables (p < 0.001 and p=0.008). Similarly, PDS enabled us to classify patients into high-risk and low-risk group, which resulted in survival difference in mRNA profiles (log-rank p-value=0.011). In external validation, gene signature was well correlated with prediction of lymphatic invasion and patients' survival. CONCLUSION: Molecular signature model predicting lymphatic invasion was well performed and also associated with survival of EOC patients.
Subject(s)
Humans , Disease-Free Survival , DNA , Forests , Gene Expression , Genome , Genome, Human , Logistic Models , Lymphatic Metastasis , Ovarian Neoplasms , RNA, Messenger , ROC Curve , Support Vector Machine , TranscriptomeABSTRACT
Resumen El objetivo de este estudio retroprospectivo fue analizar la relación de la sintomatología de depresión, de ansiedad y el trastorno por atracón (TPA) con el gen del neuropéptido relacionado con Agouti en pacientes sometidos a cirugía bariátrica. Participó una cohorte de 249 adultos (edad media = 41.1, DE =11.3), 64.1% mujeres y 35.9% hombres. La evaluación de la sintomatología depresiva, de ansiedad y de TPA se llevó a cabo a través de una entrevista semiestructurada. Además, se calculó el índice de masa corporal y se tomaron muestras de sangre para realizar un análisis de discriminación alélica. Del total de pacientes, un 20.2% fueron diagnosticados con TPA, encontrando una asociación de este trastorno con una menor pérdida de peso posterior a la cirugía bariátrica a los 6,12, 18 y 24 meses. Las medidas de depresión y de ansiedad no difirieron entre pacientes con TPA vs. sin TPA. Los pacientes con un alelo mutante en el gen del neuropéptido relacionado con Agouti tuvieron un riesgo 2.6 veces mayor de presentar TPA (IC 95% 1.0-6.8; p = 0.04). Además, el TPA parece ser más frecuente en pacientes con el gen del neuropéptido relacionado con Agouti mutado. Destaca la necesidad de que en el estudio de la obesidad se aborden tanto los aspectos psicológicos como los genéticos.
Abstract The objective of this retrospective study was to analyze the relationship between the symptoms of depression, anxiety and binge eating disorder (BED) with the gene related to the Agouti neuropeptide in patients undergoing bariatric surgery. A cohort of 249 adults (average age = 41.1, SD = 11.3), 64.1% women and 35.9% men, were included. The assessment of depression, anxiety and BED symptoms was carried out through a semi-structured interview. In addition, the body mass index was calculated, and blood samples were taken for an allelic discrimination analysis. Of the total number of patients 20.2% were diagnosed with BED, finding an association of this disorder with a lower weight loss after bariatric surgery at 6, 12, 18 and 24 months. The measures of depression and anxiety did not differ between patients with BED vs. without BED. Patients with a mutant allele in the gene related to the Agouti neuropeptide were 2.6 times more likely to present BED (95% C11.0-6.8, P = 0.04). In addition, BED appears to be more frequent in patients with a gene related to the Agouti neuropeptide mutated. When obesity is studied, it is emphasized the need to address both psychological and genetic factors.
ABSTRACT
Introducción: las crecientes aplicaciones clínicas de los avances en el diagnóstico genómico y en el desarrollo de fármacos a partir de la identificación de nuevas dianas moleculares, plantean la necesidad de fomentar competencias relacionadas en los profesionales de salud. Objetivo: diseminar contenidos publicados y recursos disponibles en un sitio web sobre las aplicaciones actuales o potenciales de la genómica en la práctica clínica, de utilidad en la docencia, la asistencia y la investigación. Métodos: a partir de la plataforma de blogs de Infomed se construyó un sitio web configurado con una página principal y tres bloques: noticias, créditos y recursos de información. Se incluyeron cinco páginas adicionales: inmunoinformática, otros proyectos genoma, eventos, libros y otros recursos. Se diseñaron estrategias de gestión de información científica para sostener su actualización permanente. Resultados: la relación de notas publicadas abarca diversas categorías como bases de datos, bioinformática, cáncer, capacitación, diagnóstico, farmacogenómica, medicina personalizada y tratamientos, entre otras. Se proporciona acceso a universidades, otras instituciones, bases de datos, revistas científicas, así como a libros o capítulos sobre la temática. Conclusiones: el sitio web Medicina Genómica ha sido diseñado como colección de recursos que incremente los niveles de conocimientos, despierte el interés y genere acciones para la promoción de los avances de la genómica en la práctica clínica(AU)
Introduction: The growing number in the clinical applications of genomic diagnosis advances and drug development from the identification of new molecular targets raise the need to promote related competencies in health professionals. Objective: To disseminate published contents and resources available on a website about current or potential applications of genomics in clinical practice, useful in teaching, assistance and research. Methods: From the blog platform of Infomed, a web site was constructed and configured with a main page and three blocks: news, credits and information resources. Five additional pages were included: immunoinformatics, other genome projects, events, books, and other resources. Scientific information management strategies were designed to support its ongoing updating. Results: The list of published notes covers diverse categories such as databases, bioinformatics, cancer, capacity building, diagnosis, pharmacogenomics, personalized medicine and treatments, among others. It provides access to universities, other institutions, databases, scientific journals, as well as books or chapters on the subject. Conclusions: The website on Genomic Medicine has been designed as a gathering of resources that increase knowledge levels, arouse interest and generate actions to promote the advances of genomics in clinical practice(AU)
Subject(s)
Genome, Human , Genomics , Information Management/methods , Professional Training , Social MediaABSTRACT
Resumo O controle populacional mediante práticas discriminatórias é encontrado em todos os momentos históricos. Nunca antes, todavia, o emprego das ciências (naturais e humanas) esteve tão próximo de alcançar a criação de novos mecanismos geradores de "subespécies" humanas. Esta pesquisa trata, fundamentada em referencial teórico selecionado, dos desafios biotecnológicos e bioéticos na senda das manipulações quanto ao desenvolvimento de práticas eventualmente nocivas no contexto pluralista. A segregação ou, até mesmo, a destruição dos seres humanos indesejáveis é temível reflexo duma sociedade egocêntrica e, em grande medida, preconceituosa. Porém, o futuro não será, necessariamente, obscuro se o Homo sapiens souber agir ética e positivamente.
Resumen El control de la población mediante prácticas discriminatorias se encuentra en todos los momentos históricos. Sin embargo, el empleo de las ciencias (naturales y humanas) nunca había estado tan cerca de alcanzar la creación de nuevos mecanismos generadores de "subespecies" humanas. La investigación trata, fundamentada en un marco teórico seleccionado, los retos biotecnológicos y bioéticos en la senda de las manipulaciones en cuanto al desarrollo de prácticas eventualmente nocivas en el contexto pluralista. La segregación o, incluso, la destrucción de los seres humanos indeseables es temible reflejo de una sociedad egocéntrica y, en gran medida, prejuiciosa. No obstante, el futuro no será, necesariamente, oscuro si el Homo sapiens sabe actuar ética y positivamente.
Abstract Population control through discriminatory practices is found at all times in history. Never before, however, has use of the sciences (natural and human) been so close to achieving the creation of new mechanisms for generating human "subspecies". This study, which is based on a selected theoretical framework, deals with the biotechnological and bioethical challenges on the path to manipulation as concerns the development of potentially harmful practices in a pluralist context. Segregation or even the destruction of undesirable human beings is a frightening reflection of an egocentric and largely prejudiced society. However, the future will not necessarily be obscure if Homo sapiens can act ethically and positively.
Subject(s)
Humans , Population , Biotechnology , Genome, Human , Growth and Development , Social DiscriminationABSTRACT
Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in defined population. This perspective summarizes national genome projects conducted in the past 10 years and introduces case studies to utilize genomic data in genetic research.
Subject(s)
Humans , Humans , Epidemiologic Studies , Ethnicity , Genetic Research , Genetics , Genome , Genome, Human , Genomics , Human Genome Project , Information DisseminationABSTRACT
Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in defined population. This perspective summarizes national genome projects conducted in the past 10 years and introduces case studies to utilize genomic data in genetic research.
Subject(s)
Humans , Humans , Epidemiologic Studies , Ethnicity , Genetic Research , Genetics , Genome , Genome, Human , Genomics , Human Genome Project , Information DisseminationABSTRACT
The diagnosis and treatment of cancer has begun to move to the age of precision medicine with the completion of the human genome project, the implementation of the cancer genome project and the application of cancer targeting drugs. This paper briefly reviewed the history from human genome project to precision medicine Initiative, the achievements of cancer genomics and targeting therapy, and finally put forward the direction of cancer study in the future.
ABSTRACT
This article is a mini-review that provides a general overview for next-generation sequencing (NGS) and introduces one of the most popular NGS applications, whole genome sequencing (WGS), developed from the expansion of human genomics. NGS technology has brought massively high throughput sequencing data to bear on research questions, enabling a new era of genomic research. Development of bioinformatic software for NGS has provided more opportunities for researchers to use various applications in genomic fields. De novo genome assembly and large scale DNA resequencing to understand genomic variations are popular genomic research tools for processing a tremendous amount of data at low cost. Studies on transcriptomes are now available, from previous-hybridization based microarray methods. Epigenetic studies are also available with NGS applications such as whole genome methylation sequencing and chromatin immunoprecipitation followed by sequencing. Human genetics has faced a new paradigm of research and medical genomics by sequencing technologies since the Human Genome Project. The trend of NGS technologies in human genomics has brought a new era of WGS by enabling the building of human genomes databases and providing appropriate human reference genomes, which is a necessary component of personalized medicine and precision medicine.
Subject(s)
Humans , Chromatin Immunoprecipitation , Computational Biology , DNA , Epigenomics , Genetics, Medical , Genome , Genome, Human , Genomics , High-Throughput Nucleotide Sequencing , Human Genome Project , Methylation , Precision Medicine , Sequence Analysis, RNA , TranscriptomeABSTRACT
La imputabilidad es un término jurídico, el cual se define como la capacidad de una persona de comprender las consecuencias que traerá la realización voluntaria de un acto ilícito, y como tal debe ser responsable y responder por el hecho cometido. El médico legal debe conocer cómo se procede en el ámbito penal en los procesos de las personas imputables pero principalmente poder determinar aquellas condiciones que generarán una abolición o disminución de la imputabilidad de manera que estos sujetos sean candidatos para la obtención de medidas de seguridad curativas que protejan a la sociedad principalmente.
The accountability is a legal term, which is defined as the ability of a person to understand the consequences that will bring the voluntary performance of an unlawful act, and as such should be responsible and accountable for the act committed. The legal physician must know how to proceed on the criminal processes of individuals attributable but mainly to determine the conditions that generate an abolition or reduction of accountability so that these people are candidates for obtaining measures of healing security primarily protect society.