Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 507
Filter
1.
Rev. cuba. hematol. inmunol. hemoter ; 37(1): e1230, ene.-mar. 2021. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1251721

ABSTRACT

Introducción: Las plaquetas tienen una función clave en la hemostasia primaria a través de cuatro mecanismos fundamentales: adhesión, agregación, secreción y actividad procoagulante, todos controlados genéticamente por más de 50 genes asociados que han sido identificados. Las manifestaciones clínicas en las alteraciones hereditarias de las plaquetas suelen ser variables; aunque estas alteraciones de la coagulación suelen presentarse con una trombocitopenia notoria, también pueden exhibir trombocitopatías, en las cuales la capacidad hemostática de las plaquetas resulta afectada sin variar su número. Por tanto, existen gran variedad de manifestaciones fenotípicas y mutaciones en relación con la función plaquetaria, algunas de las cuales se explicarán más adelante. Objetivo: Realizar revisión práctica sobre mutaciones plaquetarias hereditarias de baja incidencia y destacar la importancia de su conocimiento, correcto diagnóstico, y tratamiento precoz. Métodos: Se realizó revisión literaria en inglés y españolen MEDLINE, EMBASE, Lilacs y ScienceDirect desde mayo 2019 hasta abril 2020, con el uso de combinación de palabras clave y términos MeSH relacionados con trombastenia, genética médica, hemostasis, agregación plaquetaria, trombopoyesis. Se efectuó análisis y resumen de la bibliografía revisada. Conclusión: Entre las alteraciones hereditarias de las plaquetas se pueden encontrar defectos en todos los mecanismos en que participan; sin embargo, la confirmación diagnóstica sigue siendo complicada por el tiempo y el costo que representa lo que ocasiona diagnósticos inadecuados que impactan en el manejo clínico y la evolución(AU)


Introduction: Platelets have a key role in primary hemostasis through four main mechanisms: adhesion, aggregation, secretion and procoagulant activity, all of these controlled by over 50 associated genes that have been identified. Clinical signs of hereditary platelets alterations are usually variable; even though these disorders of hemostasis generally course with a notorious thrombocytopenia, they also might have thrombocytopathies, in which the hemostatic capacity of platelets is affected without altering its number. According to this, there's a great variety of phenotypic manifestations and mutations that affect platelet function, some of these will be explained later on. Objective: To make a practical review of hereditary platelets mutations that have low incidence in population and to highlight the importance of knowing about them, how to diagnose them and early treatment. Methods: A review of literature in both Spanish and English, was done based on MEDLINE, EMBASE, Lilacs and ScienceDirect, during May 2019 and April 2020 using key words and MeSH terms such as thrombasthenia, medical genetics, hemostasis, platelets aggregation, thromopoiesis. Then, an analysis and summary of the reviewed bibliography was carried out. Conclusion: Among the hereditary alterations of platelets, many defects can be found in every mechanism involved; however, diagnostic confirmation is still complicated due to time and cost, causing inaccurate diagnoses that impact on clinic management and evolution(AU)


Subject(s)
Humans , Blood Coagulation , Blood Platelet Disorders/epidemiology , Platelet Aggregation/immunology , Early Diagnosis , Genetics, Medical , Hemostasis/genetics , Blood Platelet Disorders/prevention & control
2.
Rev. argent. salud publica ; 13: 1-8, 5/02/2021.
Article in Spanish | LILACS, BINACIS, ARGMSAL | ID: biblio-1147271

ABSTRACT

INTRODUCCIÓN: Las cardiopatías congénitas (CC) son causadas por el desarrollo anómalo del corazón durante el período embriofetal. Abarcan un amplio espectro de anomalías estructurales de las cavidades cardíacas o de los grandes vasos, con una prevalencia mundial de 6 a 9 por 1000 nacimientos. En Argentina constituyen un tercio de las anomalías congénitas (AC) al nacimiento. Si bien su etiología es heterogénea, se ha observado recurrencia familiar acorde con la influencia de factores genéticos. El objetivo del estudio fue evaluar la presencia de anomalías cromosómicas, desbalances genómicos o variantes de secuencias en una muestra de niños afectados con CC en Argentina. MÉTODOS: Se incluyó a 289 pacientes con CC de hasta 16 años. Se realizó un cariotipo para pacientes con otras AC y análisis por amplificación múltiple de sondas dependiente de ligación (MLPA) de regiones genómicas asociadas a CC para aquellos con CC conotroncales. En muestras seleccionadas, se analizaron desbalances genómicos por microarreglos de ADN (array-CGH) o variantes de secuencia en el gen NKX2-5. RESULTADOS: Hubo 9 pacientes que presentaron anomalías cromosómicas, 21 desbalances por MLPA y 8 por array-CGH. No se hallaron variantes patogénicas en NKX2-5 en los casos estudiados. DISCUSIÓN: Se halló la causa de la afección en el 13% de los casos analizados. El estudio de pacientes con CC aisladas o asociadas a otras AC no había sido abordado previamente en Argentina mediante este algoritmo


Subject(s)
Chromosome Aberrations , Genetics, Medical , Heart Diseases
3.
Rev. cuba. hematol. inmunol. hemoter ; 36(3): e1151, jul.-set. 2020. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1156441

ABSTRACT

Introducción: La citometría de flujo permite la cuantificación de las subpoblaciones de linfocitos con una elevada sensibilidad, especificidad y objetividad. Estas ventajas solo se logran con un proceso laborioso de diseño individualizado y controlado para cada experimento. Objetivo: Diseñar un protocolo de un solo tubo policromático de citometría flujo para inmunofenotipo linfocitario periférico. Métodos: Se realizó un estudio experimental in vitro con muestras de sangre periférica obtenidas de tres voluntarios sanos, en el Centro Nacional de Genética Médica, en marzo de 2019. El tubo se compuso de seis marcadores de linaje para identificar linfocitos B, T, natural killer y natural killer T. Se desarrolló un protocolo de lisis de hematíes sin lavado. Se emplearon anticuerpos monoclonales conjugados con fluorocromos. El punto óptimo de concentración correspondió al mayor índice de tinción y conservación de los porcentajes de positividad de cada población. Se realizó la construcción progresiva del tubo y se propuso una estrategia lógica de secuencia de ventanas para el análisis de datos. Resultados: Los marcadores seleccionados permitieron realizar correctamente el inmunofenotipo linfocitario periférico. En los cinco puntos de titulación se observaron buenas discriminaciones entre las señales positivas y negativas, excepto para el anti-CD56 que presentó una tendencia decreciente del índice de tinción. El volumen total de conjugados requeridos para la determinación de los 6 antígenos fue de 3,75 μL por tubo. Conclusiones: Se obtuvo un tubo policromático que permite el inmunofenotipo periférico de forma rápida y precisa por seis antígenos linfocitarios simultáneamente, con el empleo de pequeños volúmenes de conjugado y sangre(AU)


Introduction: Flow cytometry allows quantification of lymphocyte subpopulations with high sensitivity, specificity and objectivity. These advantages are only achieved through the hardworking process of individualized and controlled design for each experiment. Objective: To design a flow cytometry protocol of a single polychromatic tube for peripheral lymphocyte immunophenotype. Methods: An experimental in vitro study was carried out, in March 2019, with peripheral blood samples obtained from three healthy volunteers, at the National Center for Medical Genetics. The tube was made up of six lineage markers for identifying natural B and T lymphocytes, natural killers and natural killer T cells. A protocol was developed for red blood cell lysis without washing. Fluorochrome-conjugated monoclonal antibodies were used. The optimal point of concentration corresponded to the highest staining index and preservation of the positivity percentages of each population. Progressive tube construction was performed and a logical window sequence strategy was proposed for data analysis. Results: The chosen markers allowed to carry out correct peripheral lymphocyte immunophenotype. Good discriminations between positive and negative signals were observed at the five titration points, except for anti-CD56, which presented a decreasing trend in the staining index. The total volume of conjugates required for determination of the six antigens was 3.75 μL per tube. Conclusions: A polychromatic tube was obtained that allows to carry out peripheral immunophenotype quickly and precisely by six lymphocyte antigens simultaneously, with the use of small volumes of conjugate and blood(AU)


Subject(s)
Humans , Process Optimization , Flow Cytometry/methods , Genetics, Medical , Construction Industry
4.
Medisan ; 24(4)jul.-ago. 2020. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-1125142

ABSTRACT

Se describe el caso clínico de una paciente de 28 años de edad, que a las 23,4 semanas de gravidez fue ingresada en el Hospital Ginecoobstétrico Docente Tamara Bunke Bider de Santiago de Cuba con el objetivo de interrumpir el embarazo, por sugerencia de los especialistas del Centro Provincial de Genética Médica, quienes habían detectado una malformación fetal (focomelia de los miembros superiores) en la ecografía del segundo trimestre. A la gestante se le realizó una histerotomía; al ser extraído el feto, se confirmó el diagnóstico ecográfico.


The case report of a 28 years patient is described, she was admitted to Tamara Bunke Bider Teaching Gynaecoobstetric Hospital in Santiago de Cuba at the 23.4 weeks of pregnancy with the objective of interrupting pregnancy, due to the specialists of the Provincial Center of Medical Genetics suggestion who had detected a fetal malformation (phocomelia of the upper limbs) in the echography of the second trimester. When the fetus was removed, a hysterectomy was carried out and the echographic diagnosis was confirmed.


Subject(s)
Congenital Abnormalities/diagnostic imaging , Ectromelia/diagnostic imaging , Pregnancy Trimester, Second , Ultrasonography , Genetics, Medical
5.
Rev. bras. med. fam. comunidade ; 15(42): 2347-2347, 20200210. tab
Article in Portuguese | LILACS, ColecionaSUS | ID: biblio-1117133

ABSTRACT

Problema: Embora individualmente raras, somadas, as doenças genéticas têm prevalência global estimada de 31,5 a 73,0 por 1.000 indivíduos. Além disto, doenças genéticas e defeitos congênitos representam a segunda causa de mortalidade infantil no Brasil. Diante deste cenário, foi instituída a Política Nacional de Atenção Integral às Pessoas com Doenças Raras no Sistema Único de Saúde. Esta política prevê funções específicas para Atenção Primária à Saúde (APS) que incluem diagnóstico precoce e mapeamento de pessoas com ou sob-risco de desenvolver doenças genéticas raras e/ou defeitos congênitos para encaminhamento regulado. Essa experiência objetivou colaborar com o desenvolvimento de métodos para o reconhecimento de indivíduos com ou sob-risco de desenvolver doenças genéticas na APS. Métodos: Através de visitas domiciliares e por meio do preenchimento de uma ficha específica, realizou-se busca ativa de casos de doença genética e/ou defeito congênito em uma amostra probabilística aleatória, representativa de uma Unidade de Saúde da Família de um município brasileiro de porte médio. Resultados: Foram investigados 295 domicílios, totalizando 1.160 indivíduos e 238 casais. A média de filhos por casal foi de 2,7, a frequência de consanguinidade foi 3,8% e de abortamento espontâneo foi 8,7%. Foram identificadas 29 pessoas (2,5%) com doenças congênitas, 11 (0,9%) com deficiências auditivas, 10 (0,9%) com deficiência mental e 6 (0,5%) com déficits visuais importantes. Atraso no desenvolvimento neuropsicomotor foi relatado em 8,8% das crianças e adolescentes. Doze indivíduos (1%) possuíam câncer e 9,6% relataram história familiar positiva para câncer. Conclusão: Os profissionais da APS estão em posição privilegiada para identificar e organizar uma rede de cuidados para indivíduos com doenças genéticas e/ou defeitos congênitos. A utilização sistemática de instrumentos que facilitem o reconhecimento de fatores de risco e de situações suspeitas pode ser uma estratégia útil a ser incorporada pela APS.


Problem: Although individually rare, when added together, genetic diseases have an estimated overall prevalence of 31.5 to 73.0 per 1,000 individuals. In addition, genetic diseases and birth defects represent the second cause of infant mortality in Brazil. In this context, the National Policy on Comprehensive Care of People with Rare Diseases was established in the Brazilian National Health System. This policy provides specific Primary Health Care (PHC) assignments that includes early diagnosis and mapping people with or at risk of developing rare genetic disease and/or birth defects for regulated referral. This experience aimed to collaborate with developing methods for recognizing individuals with or at risk of developing genetic diseases in PHC. Methods: Through home visits and filling out a specific form, an active search for cases of genetic disease and/or birth defect was carried out in a random probabilistic sample, representative of a Family Health Unit in a Brazilian medium-sized county. Results: A total of 295 households were surveyed, totalling 1,160 individuals and 238 couples. The mean number of children per couple was 2.7, the inbreeding rate was 3.8% and the frequency of miscarriage was estimated in 8.7%. Twenty-nine individuals (2.5%) with congenital disorders, 11 (0.9%) with hearing impairment, 10 (0.9%) with mental disability, and 6 (0.5%) with significant visual deficits were identified. Neuropsychomotor developmental delay was presented in 8.8% of the children and teenagers. Twelve individuals (1%) had cancer and 9.6% reported a positive family history of cancer. Conclusion: PHC professionals are in a privileged position to identify and organize a care network for individuals with genetic diseases and/or birth defects. The systematic use of instruments that facilitate the recognition of risk factors and suspicious situations can be a useful strategy to be incorporated by PHC.


Genética na atenção primária à saúdeRev Bras Med Fam Comunidade. Rio de Janeiro, 2020 Jan-Dez; 15(42):23472INTRODUÇÃOEstima-se que existam cerca de 6 a 7 mil doenças genéticas diferentes e, embora a maior parte destas sejam individualmente raras, somadas, as doenças genéticas têm prevalência global estimada de 31,5 a 73,0 por 1.000 indivíduos.1 Doenças genéticas podem ser congênitas ou podem se manifestar ao longo da vida, impactando nas diferentes faixas etárias: alterações cromossômicas estão presentes em cerca de 50% dos abortamentos espontâneos de primeiro trimestre; entre recém-nascidos, 3 a 5% apresentam algum defeito congênito, determinado total ou parcialmente por fatores genéticos; deficiências físicas, intelectuais e sensoriais em crianças e jovens frequentemente fazem parte do quadro clínico de síndromes genéticas; nos adultos, aproximadamente 5 a 10% dos cânceres possuem forte componente genético hereditário.1,2 Doenças genéticas podem ser hereditárias, sendo transmitidas ao longo das gerações de uma família, ou não hereditárias, ocorrendo por "mutação de novo".2 São sabidamente fatores de risco para doenças genéticas idades materna e/ou paterna avançadas, consanguinidade e história familiar positiva para doenças genéticas previamente reconhecidas.2-5 Além destes, a exposição de gestantes a teratógenos é fator de risco para defeitos congênitos.6Problema: Aunque individualmente raras, las enfermedades genéticas combinadas tienen prevalencia general estimada de 31.5 a 73.0 por 1,000 individuos. Además, enfermedades genéticas y anomalías congénitas representan la segunda causa de mortalidad infantil en Brasil. Ante este escenario, se instituyó la Política Nacional de Atención Integral a Personas con Enfermedades Raras en el Sistema Único de Salud. Esta Política proporciona funciones específicas para Atención Primaria de Salud (APS) que incluyen diagnóstico precoz y mapeo de personas con o en riesgo de desarrollar enfermedades genéticas raras y/o anomalías congénitas para derivación regulada. Esta experiencia tuvo como objetivo colaborar con el desarrollo de métodos para el reconocimiento de individuos con o en riesgo de desarrollar enfermedades genéticas en la APS. Método: Mediante visitas domiciliarias y completando un formulario específico, se realizó búsqueda activa de casos de enfermedades genéticas y/o defectos congénitos en una muestra probabilística aleatoria, representativa de una Unidad de Salud Familiar en un municipio brasileño de tamaño mediano. Resultados: Se investigaron un total de 295 hogares, 1,160 personas y 238 parejas. El número promedio de hijos por pareja fue de 2.7, la frecuencia de consanguinidad 3.8% y el aborto espontáneo 8.7%. Se identificaron 29 personas (2.5%) con enfermedades congénitas, 11 (0.9%) con discapacidad auditiva, 10 (0.9%) con discapacidad mental y 6 (0.5%) con déficits visuales significativos. Se informó retraso psicomotor en 8.8% de los niños y adolescentes. Doce personas (1%) tenían cáncer y 9.6% reportaron antecedentes familiares de cáncer. Conclusión: Los profesionales de la APS están en posición privilegiada para identificar y organizar una red de atención para personas con enfermedades genéticas y/o defectos congénitos. El uso sistemático de instrumentos que facilitan el reconocimiento de factores de riesgo y situaciones sospechosas puede ser una estrategia útil para la APS.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Primary Health Care , Congenital Abnormalities , Genetics, Medical , Rare Diseases
9.
Rev. cuba. obstet. ginecol ; 45(4): e543, oct.-dic. 2019. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1126707

ABSTRACT

RESUMEN Introducción: El diagnóstico prenatal de alteraciones cromosómicas en Cuba se inició en La Habana en 1984, mediante análisis del líquido amniótico obtenido por amniocentesis en el segundo trimestre del embarazo. En 1987 se introdujo el diagnóstico por análisis de vellosidades coriónicas en el primer trimestre, como parte de un subprograma dentro del Programa Nacional de Diagnóstico y Prevención de Enfermedades Genéticas dirigido por el Centro Nacional de Genética Médica. Objetivo: Demostrar que la edad materna avanzada sigue siendo la principal indicación de estudio citogenético en las gestantes de alto riesgo en la provincia de La Habana. Métodos: Se realizó un estudio descriptivo, retrospectivo y de corte longitudinal que abarcó 12 909 historias clínicas de gestantes a las que se realizaron amniocentesis, indicadas en la consulta del Centro Provincial de Genética Médica de la Habana, en el período comprendido entre enero 2007 y diciembre 2016. Se analizaron diferentes parámetros relacionados con la cantidad de casos por años según diferentes criterios y se calculó la sensibilidad, especificidad, valor predictivo positivo y valor predictivo negativo de la edad materna como predictor de la ocurrencia de anomalías cromosómicas. Resultados: El principal criterio de indicación del estudio invasivo lo constituyó la edad materna avanzada con 82 por ciento de los casos, mostrando una sensibilidad de 86 por ciento y una tasa de falsos positivos que alcanzó el 95,85 por ciento. Sería de utilidad actualizar el subprograma de diagnóstico prenatal mediante herramientas que permitan recalcular el riesgo a priori, a un riesgo individualizado y reclasificar la población de alto riesgo genético. Conclusiones: A partir del estudio realizado se puede concluir que la avanzada edad materna constituye el principal criterio de indicación para estudio citogenético por amniocentesis en las gestantes de alto riesgo de La Habana(AU)


ABSTRACT Introduction: The prenatal diagnosis of chromosomal abnormalities in Cuba began in Havana in 1984, by analyzing the amniotic fluid by amniocentesis in the second trimester of pregnancy. In 1987, diagnosis by chorionic villus analysis was introduced in the first trimester, as part of a subprogram within the National Program for the Diagnosis and Prevention of Genetic Diseases led by the National Center for Medical Genetics. Objective: To validate that advanced maternal age continues to be the main feature to propose a cytogenetic study in high-risk pregnant women in the province of Havana. Methods: A descriptive, retrospective, longitudinal-section study was conducted in 12,909 medical records of pregnant women who underwent amniocentesis, proposed in the consultation of Havana Provincial Center for Medical Genetics, from January 2007 to December 2016. Different parameters related to the number of cases per year were analyzed according to different criteria and sensitivity, specificity, positive predictive value and negative predictive value of maternal age were calculated as a predictor of the occurrence of chromosomal abnormalities. Results: The main criterion for indicating this invasive study was the advanced maternal age in 82 percent of cases, showing 86 percent of sensitivity and 95.85 percent false positive rate. It would be useful to update the prenatal diagnosis subprogram using tools that allow the risk to be recalculated a priori to an individualized risk and to reclassify the population in high genetic risk. Conclusions: From this study it can be concluded that advanced maternal age constitutes the main criterion for indicating amniocentesis cytogenetic study in high-risk pregnant women in Havana(AU)


Subject(s)
Humans , Female , Pregnancy , Prenatal Diagnosis/adverse effects , Disease Prevention , Genetics, Medical/trends , Amniocentesis/methods , Epidemiology, Descriptive , Predictive Value of Tests , Retrospective Studies , Longitudinal Studies
10.
Rev. medica electron ; 41(4): 959-978, jul.-ago. 2019.
Article in Spanish | LILACS, CUMED | ID: biblio-1094101

ABSTRACT

RESUMEN La ontogenia humana está basada en fundamentos genéticos y epigenéticos. Con el objetivo de estructurar los referentes teóricos sobre el papel relevante de la epigenética en la ontogenianormal y defectuosa que contribuyan a la promoción de salud y prevención de enfermedad, se realizó la revisión de 37 referencias bibliográficas. La epigenética es el conjunto de procesos químicos dependientes del ambiente que modifican la expresión del ácido desoxirribonucleico, sin alterar su secuencia. Su acción está presente durante toda la vida, especialmente en la prenatal cuando, por modificaciones ambientales intraútero ocurre la programación epigenética que hace al humano susceptible a defectos en la ontogenia, incluso a padecer ulteriormente de enfermedades crónicas no transmisibles. Se han reportado factores ambientales inductores de marcas epigenéticas, entre ellos: alimentación, hábitos tóxicos, estrés, consumo inadecuado de ácido fólico y técnicas de reproducción asistida, todos modificables; su conocimiento constituye un baluarte inestimable en la promoción de salud y prevención de enfermedad.


ABSTRACT Human ontogeny is based in genetic and epigenetic fundaments. 37 bibliographic references were reviewed with the objective of structuring the theoretical referents on the relevant role of epigenetics in normal and defective ontogeny to contribute to health promotion and disease prevention. Epigenetics is the whole of chemical processes depending from the environment that modify the deoxyribonucleic acid expression without modifying its sequence. Its action is present during all lifetime, especially at pre-natal times; when due to intrauterine environmental modifications the epigenetic programming takes place, making humans susceptible to defects in ontogeny, even to subsequently suffer non-communicable chronic diseases. Environmental factors inducing epigenetic marks have been reported: food, toxic habits, stress, folic acid inadequate intake and assisted reproduction techniques, all modifiable. Its knowledge is an invaluable bulkward in health promotion and disease prevention.


Subject(s)
Humans , Preventive Health Services , Fetal Development/genetics , Disease Prevention , Epigenomics , Human Genetics , Genetics, Medical , Health Promotion , Impacts on Health , Environmental Hazards , Genetic Code
11.
Hist. ciênc. saúde-Manguinhos ; 26(1): 219-244, Jan.-Mar. 2019. graf
Article in English | LILACS | ID: biblio-989868

ABSTRACT

Abstract This paper provides an overview of the state of Mexican genetics and biomedical knowledge during the second half of the twentieth century, as well as its impact on the visual representation of human groups and racial hierarchies, based on social studies of scientific imaging and visualization (SIV) and theoretical concepts and methods. It also addresses the genealogy and shifts of the concept of race and racialization of Mexican bodies, concluding with the novel visual culture that resulted from genetic knowledge merged with the racist phenomenon in the second half of the twentieth century in Mexico.


Resumo Este artigo traça um panorama do estado da genética e do conhecimento biomédico no México durante a segunda metade do século XX, assim como seu impacto na representação visual de grupos humanos e hierarquias raciais, baseado em estudos sociais da imagem e visualização cientifica e de seus métodos e conceitos teóricos. Também aborda a genealogia e as mudanças nos conceitos de raça e racismo nos corpos mexicanos, que resultaram na nova cultura visual fruto do conhecimento genético, interligando-se ao fenômeno do racismo na segunda metade do século XX no México.


Subject(s)
Humans , History, 19th Century , History, 20th Century , Continental Population Groups/genetics , Biological Evolution , Genetics, Medical/history , Medical Illustration/history , Internationality/history , Racism/history , Mexico
12.
Article in Korean | WPRIM | ID: wpr-759913

ABSTRACT

Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and other protein polymorphisms, anthropological geneticists started redrawing the ancient migratory history of human populations. A peculiarity of the Korean experience is that clinical physicians were the first experts using genetic data to theorize the historical origin of the respective population. This paper examines how South Korean physicians produced the genetic knowledge and discourse of the Korean origin in the 1970s and 1980s. It argues that transnational scientific exchange led clinical researchers to engage in global anthropological studies. The paper focuses on two scientific cooperative cases in medical genetics at the time: the West German-South Korean pharmacogenetic research on the Korean population and the Asia-Oceania Histocompatibility Workshop. At the outset, physicians introduced medical genetics into their laboratory for clinical applications. Involved in cooperative projects on investigating anthropological implications of their clinical work, medical researchers came to use their genetic data for studying the Korean origin. In the process, physicians simply followed a nationalist narrative of the Korean origin rather than criticizing it. This was partially due to their lack of serious interest in anthropological work. Their explanations about the Korean origin would be considered “scientific” while hiding their embracing of the nationalist narrative.


Subject(s)
Blood Group Antigens , Databases, Genetic , Education , Genetics , Genetics, Medical , Histocompatibility , Humans
13.
Article in Korean | WPRIM | ID: wpr-759865

ABSTRACT

Forensic science is an academic field that utilizes scientific knowledge and the conducting of research in legal procedures. Recently, legal science has been receiving more attention since the use of DNA identification started, especially in criminal procedures, in accordance with the development of human genetics. DNA identification has been used to identify criminals by analyzing humanoriginated biological materials obtained from crime scenes, and, more recently, the breadth and effectiveness of their use has been increasing with the operation of DNA databases. The Korean government regulates the operation and utilization of the DNA database through the “Act on Use and Protection of DNA Identification Information.” Meanwhile, the actual study of human genetics is regulated by the “Bioethics and Safety Act.” Professional areas, such as forensic science, are not areas where regulation by the laws is appropriate. However, the core part of behavior has to be ruled by the laws, considering the impact of scientific achievements on society and individuals when they are utilized. Since most scientific research and performance utilization belong in the scientific and technological domains, regulation through experts' autonomous guidelines is more appropriate. For the regulation of biomedical research through ethical guidelines, some requirements should be satisfied: the ethical guideline should be made by suitable professionals; the ethical guideline should be scientifically and ethically reliable; the ethical guideline should be enforced by a trustworthy institution; and most importantly, the scientist community should be trustworthy.


Subject(s)
Crime , Criminals , Databases, Nucleic Acid , DNA , Forensic Sciences , Genetics, Medical , Humans , Jurisprudence
15.
Article in English | WPRIM | ID: wpr-762440

ABSTRACT

BACKGROUND: von Willebrand disease (VWD), characterized by quantitative or qualitative defects of von Willebrand factor (VWF), is the most common inheritable bleeding disorder. Data regarding the genetic background of VWD in Korean patients is limited. To our knowledge, this is the first comprehensive molecular genetic investigation of Korean patients with VWD. METHODS: Twenty-two unrelated patients with VWD were recruited from August 2014 to December 2017 (age range 28 months–64 years; male:female ratio 1.2:1). Fifteen patients had type 1, six had type 2, and one had type 3 VWD. Blood samples were collected for coagulation analyses and molecular genetic analyses from each patient. Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed. In patients without sequence variants, multiplex ligation-dependent probe amplification (MLPA) was performed to detect dosage variants. We adapted the American College of Medical Genetics and Genomics guidelines for variant interpretation and considered variants of uncertain significance, likely pathogenic variants, and pathogenic variants as putative disease-causing variants. RESULTS: VWF variants were identified in 15 patients (68%): 14 patients with a single heterozygous variant and one patient with two heterozygous variants. The variants consisted of 13 missense variants, one small insertion, and one splicing variant. Four variants were novel: p.S764Efs*16, p.C889R, p.C1130Y, and p.W2193C. MLPA analysis in seven patients without reportable variants revealed no dosage variants. CONCLUSIONS: This study revealed the spectrum of VWF variants, including novel ones, and limited diagnostic utility of MLPA analyses in Korean patients with VWD.


Subject(s)
Exons , Genetic Background , Genetics, Medical , Genomics , Hemorrhage , Humans , Introns , Korea , Molecular Biology , Multiplex Polymerase Chain Reaction , von Willebrand Disease, Type 3 , von Willebrand Diseases , von Willebrand Factor
16.
Rev. méd. hondur ; 86(1/2): 75-85, ene-. jul. 2018.
Article in Spanish | LILACS | ID: biblio-1008685

ABSTRACT

A lo largo de los últimos dos siglos la medicina se vio nutrida con los descubrimientos bioquímicos que impulsaron el entendimiento de los mecanismos isiopatológicos y facilitó el desarrollo de la terapéutica. En cambio, en el presente siglo entramos a la era de la genómica y del "big data", por lo que el estudio de las funciones del ADN como dispositivo de almacenamiento de información es esencial para la comprensión de la nueva medicina genómica personalizada, de precisión. En la presente revisión, se analiza el ADN como un dispositivo informático con tres funciones: almacenamiento, expresión y transmisión de la información acumulada a lo largo de la ilogenia en forma de secuencias de nucleótidos. Se describe cada una de estas funciones comparándolas con la información manejada por una computadora o una sociedad, y se brindan ejemplos de patologías que surgen ante el fallo de alguna de las funciones. La revisión bibliográica es amplia e incluye los artículos más relevantes, tanto históricos como del estado del arte, correspondientes a cada tema...(AU)


Subject(s)
Humans , Regulatory Sequences, Nucleic Acid , Computational Biology , Genetic Diseases, Inborn , Genomics , Genetics, Medical
17.
Rev. cuba. salud pública ; 44(2)abr.-jun. 2018. tab
Article in Spanish | LILACS, CUMED | ID: biblio-901570

ABSTRACT

Introducción: Las nuevas tecnologías disponibles en el campo de la genética humana y médica pueden ser utilizadas, cada vez más, con fines médicos preventivos. Existe también el riesgo de su uso indebido que favorezca la discriminación y la eutanasia selectiva y minimice el papel de los condicionantes sociales en la salud de las poblaciones. Objetivo: Establecer normas éticas para garantizar que las pruebas presintomáticas en Cuba se realicen conforme a los principios éticos de respeto a la autonomía, justicia, beneficencia y no maleficencia. Métodos: Estas normas se elaboraron a partir de una propuesta discutida y consensuada en talleres nacionales con la participación de genetistas clínicos de todo el país y aprobadas por el Comité de Ética del Centro Nacional de Genética Médica y el Ministerio de Salud Pública. Resultados: Las normas aprobadas consideraron aspectos esenciales como el conocimiento sobre el alcance de la información que la prueba revelará y sus implicaciones a nivel personal y familiar, el consentimiento informado para su realización, las condiciones en que se realiza y la seguridad de sus resultados, las obligaciones médicas antes, durante y después de la realización de la prueba y lo concerniente a la privacidad y confidencialidad de la información. Conclusiones: La generalización y cumplimiento de las normas aprobadas asegura la protección a individuos y familias vulnerables, contribuye a mejorar su atención médica y a aminorar el impacto que sobre su salud, su reproducción y su vida en general, tienen las severas enfermedades para las que están en riesgo o padecen(AU)


Introduction: New technologies available in the field of human and medical genetics can increasingly be used for preventive medical purposes. There is also the risk of misuse that favors discrimination and selective euthanasia, and that minimizes the role of social determinants in the health of the populations. Objectives: To establish ethical norms to ensure that presymptomatic tests in Cuba are carried out in accordance with the principles of respect for autonomy, justice, beneficence and non-malice. Methods: These norms were elaborated from a proposal discussed and agreed upon in national workshops with the participation of clinical geneticists from all over the country and approved by the Ethics Committee of the National Center of Medical Genetics and the Ministry of Public Health. Results: The approved norms considered essential aspects such as: the knowledge about the scope of information that the test will reveal and its implications on a personal and family level, informed consent for its implementation, the conditions under which it is performed, and the safety of its results; medical obligations before, during and after the performance of the test; and all concerning to the privacy and confidentiality of the information. Conclusions: The generalization and compliance of these ethical norms ensure the protection of vulnerable individuals and families, contributes to improving their medical care and to reducing the impact on their health, their reproduction and life in general terms of the severe diseases they are at risk or suffering from(AU)


Subject(s)
Humans , Ethics, Medical/education , Genetic Counseling/methods , Genetics, Medical/methods , Genetics, Medical/standards , Cuba
18.
Rev. habanera cienc. méd ; 17(3): 440-450, mayo.-jun. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-978542

ABSTRACT

Introducción: La Enfermedad de Wilson es una enfermedad con patrón de herencia autosómico recesivo. Es causada por las mutaciones en el gen atp7b. El exón 3 del gen atp7b es polimórfico y se informan más de 120 polimorfismos en el gen atp7b. Objetivo: Identificar los cambios conformacionales en el exón 3 del gen atp7b y detectar polimorfismos en pacientes cubanos con diagnóstico clínico presuntivo de la enfermedad de Wilson. Materiales y Métodos: Se realizó un estudio descriptivo, en el Centro Nacional de Genética Médica y en el Instituto Nacional de Gastroenterología, durante el período 2007-2013, que incluyó 105 pacientes con diagnóstico clínico presuntivo de la enfermedad de Wilson. La extracción del ADN fue por la técnica de precipitación salina. Se utilizó la técnica de Reacción en Cadena de la Polimerasa para la amplificación del fragmento de interés, y para detectar los cambios conformacionales y la presencia del polimorfismo p.L456V, se usó la técnica de Polimorfismo Conformacional de Simple Cadena, en el exón 3 del gen atp7b. Resultados: En el exón 3 se detectan los cambios conformacionales denominados b y c que correspondieron al polimorfismo p.L456V en estado heterocigótico y homocigótico respectivamente. La frecuencia alélica del polimorfismo p.L456V es de 41 por ciento. Las manifestaciones más frecuentes en los pacientes que presentaron este polimorfismo son las hepáticas. Conclusiones: Se identificó el polimorfismo p.L456V en 64 pacientes cubanos con diagnóstico clínico de la enfermedad de Wilson, lo cual posibilitará hacer estudios moleculares por métodos indirectos(AU)


Introduction: Wilson's disease is a rare inherited autosomal recessive disorder caused by mutations in the ATP7B gene. The exon 3 of the ATP7B gene is polymorphic, and more than 120 polymorphisms of this type have been reported in the literature. Objective: To identify conformational band shifts in exon 3 and detect polymorphisms of the ATP7B gene in Cuban patients, clinically diagnosed with Wilson's disease. Materials and Methods: A descriptive study including 105 patients with the clinical diagnosis of Wilson's disease was conducted at the National Center for Medical Genetics and the National Institute of Gastroenterology from 2007 to 2013. Salting-out protocol was used for DNA extraction. The Polymerase Chain Reaction was used to amplify the fragment of interest and the Single-Strand Conformational Polymorphism was applied in the region of exon 3 of the ATP7B gene to identify conformational changes and the presence of the polymorphism p.L456V. Results: The conformational change called B and C corresponded to the p.L456V polymorphism in the heterozygous and homozygous states, respectively. The allelic frequency of the p.L456V polymorphism in 105 Cuban patients clinically diagnosed with Wilson's disease was 41 percent. The most common manifestations in patients with this polymorphism were related to the liver. Conclusion: The p.L456V polymorphism was identified in 64 Cuban patients with Wilson disease, which will enable us to conduct molecular studies by indirect methods(AU)


Subject(s)
Humans , Male , Female , Polymorphism, Genetic/genetics , Genetic Testing , Exons/immunology , Hepatolenticular Degeneration/diagnosis , Epidemiology, Descriptive , Cuba , Genetics, Medical
20.
Article in Korean | WPRIM | ID: wpr-716732

ABSTRACT

Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis is a kind of sensitive mutation detection method that has been usually used in field of medical genetics. A single DNA strand with a mutation or nucleotide polymorphism has a different conformation from its wild-type counterpart, and these conformational differences result in different electrophoretic mobility. In previous study of mitochondrial microsatellite instability in 50 uterine leiomyomas, PCR-SSCP showed 4 types of band mobility at (CA)n of the mitochondrial D-loop. In type 1 and 4, positions of the lower single stand of both were same but those of upper strand were different. In sequencing analysis, repeat number of (CA)n in type 1 was 4, 5 in type 2, 6 in type 3, and 4 in type 4, respectively. Without using expensive sequencing analysis, PCR-SSCP method can be used to detect the repeat number of (CA)n in mitochondrial D-loop.


Subject(s)
DNA , Genetics, Medical , Leiomyoma , Methods , Microsatellite Instability
SELECTION OF CITATIONS
SEARCH DETAIL