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1.
MEDICC Rev ; 23(1): 12-17, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33780417

RESUMEN

Three fourths of the 175 staff at Cuba's National Medical Genetics Center (CNGM) are women. And women constitute 90% of the research team working on the Center's largest current project-unlocking the biological secrets of COVID-19 in the Cuban population. They are identifying particularly vulnerable groups and geographies, reviewing therapies applied and long-term sequelae of the disease, and contributing to ongoing vaccine research and trials. Their results are critical to determining effective preventive and treatment strategies as the country moves into the next phases of epidemic control. The national study is the first and only one of its kind in Latin America. Then the first COVID-19 cases were diagnosed in Cuba on March 11, 2020, the Center's role in epidemiological surveillance was activated, based on its experience with the Zika threat in 2015. This involved mobilizing the National Genetics Network anchored in primary healthcare facilities, comprised of 452 genetics counselors, nurses and clinical geneticists, supported by technicians, epidemiologists and family doctors. The Network's role would become key to the ensuing research. As the magnitude of the pandemic became clearer, CNGM investigators approached the Ministry of Public Health and government leaders with a broad-ranging proposal to study biological factors that would help explain differences in vulnerability, symptoms, immune response and severity of the disease, as well as its profile in different Cuban subpopulations. After approval, the studies got underway in June, encompassing Cubans who had been infected through June 11, 2020, and were by now convalescing. The nine main research lines were defined, and principal investigators went to work developing the instruments needed and training personnel across the island on their use. While final results are still being analyzed, CNGM Director Dr Beatriz Marcheco and four lead researchers talked with MEDICC Review about the scope of their work and some of the most intriguing preliminary findings.


Asunto(s)
/genética , Genética Médica , Programas Nacionales de Salud/organización & administración , /genética , /epidemiología , Control de Enfermedades Transmisibles , Cuba/epidemiología , Femenino , Humanos , Masculino , Objetivos Organizacionales , Pandemias , Vigilancia de la Población
2.
Am J Hum Genet ; 108(3): 371-372, 2021 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-33667387

RESUMEN

In 2021, the genetics and genomics community needs to communicate to policymakers how the field of human genetics and genomics is transforming biomedical research and medicine, including its essential role in combatting COVID-19. This is important for ensuring that policies enable a thriving scientific enterprise and provide resources for research advances.


Asunto(s)
Investigación Biomédica/tendencias , Genética Médica/tendencias , Genómica/tendencias , Humanos , Pandemias
3.
Am J Hum Genet ; 108(3): 375-382, 2021 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-33667389

RESUMEN

This article is based on the address given by the author at the 2020 virtual meeting of the American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website.


Asunto(s)
Genética Médica/tendencias , Genómica/tendencias , Genética Humana/tendencias , Humanos , Estados Unidos
4.
Am J Hum Genet ; 108(3): 383-385, 2021 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-33667390

RESUMEN

This article is based on the address given by the author at the 2020 virtual meeting of the American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website. Photo credit: Clare McLean.


Asunto(s)
Genética Médica/historia , Genética Humana/historia , Distinciones y Premios , Historia del Siglo XXI , Humanos , Estados Unidos
5.
Am J Hum Genet ; 108(3): 386-391, 2021 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-33667391

RESUMEN

This article is based on the address given by the author at the 2020 virtual meeting of The American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website.


Asunto(s)
Cultura , Genética Médica/tendencias , Bases de Datos Genéticas , Humanos
6.
Am J Hum Genet ; 108(3): 392-394, 2021 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-33667392

RESUMEN

This article is based on the address given by the author at the 2020 virtual meeting of the American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website.


Asunto(s)
Genética Médica/tendencias , Genética Humana/tendencias , Humanos , Estados Unidos
7.
Am J Hum Genet ; 108(3): 395-399, 2021 03 04.
Artículo en Inglés | MEDLINE | ID: mdl-33667393

RESUMEN

This article is based on the address given by the author at the 2020 virtual meeting of the American Society of Human Genetics (ASHG) on October 26, 2020. The video of the original address can be found at the ASHG website.


Asunto(s)
Consanguinidad , Genética Médica/tendencias , Genética de Población/tendencias , Genoma Humano/genética , Humanos , Anotación de Secuencia Molecular
10.
Rev. argent. salud publica ; 13: 1-8, 5/02/2021.
Artículo en Español | LILACS, BINACIS, ARGMSAL | ID: biblio-1147271

RESUMEN

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


Asunto(s)
Aberraciones Cromosómicas , Genética Médica , Cardiopatías
12.
Am J Med Genet C Semin Med Genet ; 187(1): 55-63, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33427371

RESUMEN

In an era of increasing technology and interaction with the patient bedside, we explore the role of relocating the bedside from the hospital to the home using telemedicine. The COVID-19 pandemic pushed telemedicine from small and pilot programs to widespread practice at an unprecedented rate. With the rapid implementation of telemedicine, it is important to consider how to create a telehealth system that provides both good care for patients and families while maintaining an excellent education environment for trainees of all levels. To this end, we developed telemedicine educational milestones to describe novel skills required to provide high quality telemedicine care, and allow trainees and clinical educators a metric by which to assess trainee progress. We also created methods and tools to help trainees learn and families feel comfortable in their new role as virtual collaborators. We envision a time when safety does not set the venue; instead the needs of the patient will dictate whether a virtual or in-person visit is the right choice for a family. We expect that pediatric medical genetics and metabolism groups across the country will continue to set a standard of a hybrid care system to meet the unique needs of each individual patient, using telemedicine technology.


Asunto(s)
Genética Médica , Visita Domiciliaria/estadística & datos numéricos , Pandemias/estadística & datos numéricos , /epidemiología , Niño , Educación Médica , Genética Médica/métodos , Personal de Salud , Hospitales Pediátricos , Humanos , Atención al Paciente , Mejoramiento de la Calidad , Calidad de la Atención de Salud , Telemedicina/métodos , Telemedicina/estadística & datos numéricos
13.
Nat Med ; 27(2): 184-185, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33510440
15.
Am J Hum Genet ; 107(4): 589-595, 2020 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-33007198

RESUMEN

In the post-genomic era, genomic medicine interventions as a key component of personalized medicine and tailored-made health care are greatly anticipated following recent scientific and technological advances. Indeed, large-scale sequencing efforts that explore human genomic variation have been initiated in several, mostly developed, countries across the globe, such as the United States, the United Kingdom, and a few others. Here, we highlight the successful implementation of large-scale national genomic initiatives, namely the Genome of Greece (GoGreece) and the DNA do Brasil (DNABr), aiming to emphasize the importance of implementing such initiatives in developing countries. Based on this experience, we also provide a roadmap for replicating these projects in other low-resource settings, thereby bringing genomic medicine in these countries closer to clinical fruition.


Asunto(s)
Genética Médica/organización & administración , Genoma Humano , Genómica/organización & administración , Salud Única/legislación & jurisprudencia , Medicina de Precisión/métodos , Brasil , Países en Desarrollo , Grecia , Secuenciación de Nucleótidos de Alto Rendimiento/economía , Humanos , Salud Pública/métodos , Reino Unido , Estados Unidos
16.
Yi Chuan ; 42(8): 810-816, 2020 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-32952116

RESUMEN

Medical Genetics is an important research content of basic medicine and closely related to clinical medicine. Medical Genetics can not only lay a solid theoretical foundation for understanding medical problems for medical students, but also provide them an indispensable technical means for clinical medical practice. In order to improve students' understanding and mastery of the core content of Medical Genetics and cultivate senior medical talents with innovative spirit and independent thinking abilities, the PBL (problem-based learning) teaching method was introduced in the teaching of medical genetics for students enrolled in the eight-year medical education program. By integrating formative evaluation and teaching feedback mechanism into PBL teaching, we have achieved good teaching effects. In this paper, we will discuss the importance and necessity of formative evaluation and teaching feedback in PBL teaching, introduce the PBL teaching plan, teaching process and teaching effect of Medical Genetics in our school, share our thoughts on PBL teaching mode, and provide new ideas for the teaching reform of Medical Genetics.


Asunto(s)
Educación Médica , Genética Médica , Enseñanza , Educación Médica/normas , Genética Médica/educación , Humanos , Aprendizaje Basado en Problemas , Estudiantes de Medicina , Enseñanza/normas
18.
Medisan ; 24(4)jul.-ago. 2020. ilus
Artículo en Español | LILACS, CUMED | ID: biblio-1125142

RESUMEN

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.


Asunto(s)
Anomalías Congénitas/diagnóstico por imagen , Ectromelia/diagnóstico por imagen , Segundo Trimestre del Embarazo , Ultrasonografía , Genética Médica
20.
PLoS One ; 15(6): e0235001, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32559245

RESUMEN

Effective adoption of genetics in clinical practice requires the support of and interaction between the different partners of healthcare system; healthcare professionals (HCPs) and patients. The study aimed to assess and compare the knowledge, factors affecting the knowledge, and concerns of HCPs and patients regarding genetic-related issues such as lack of knowledge about genetics and genetic conditions, awareness of the importance of genetics in clinical practice and genetic services and resources deficits. A cross sectional study was conducted in different areas of Jordan using a convenient sampling approach. An English questionnaire was self-administered to HCPs. Face-to-face interviews were conducted with patients in Arabic by trained researcher. A total of 1000 HCPs and 1448 patients were recruited. There was a significant difference (p<0.001) in the knowledge between HCPs and patients. Among HCPs, physicians (OR = 2.278, 95%CI = 1.410-3.680, p = 0.001) and pharmacists (OR = 2.163, 95%CI = 1.362-3.436, p = 0.001) were more knowledgeable than nurses. In addition, females were more knowledgeable than males (OR = 1.717, 95%CI = 1.203-2.451, p = 0.003). Among patients, participants who had a bachelor degree (OR = 1.579, 95%CI = 1.231-2.025, p<0.001) were more knowledgeable compared to those who only had school education. HCPs appeared to have more concerns than patients (p<0.001) regarding all genetic-related issues. These findings suggested a positive association between education and genetic knowledge as well as concerns; as HCPs were more knowledgeable and concerned than patients. Appropriate integration and expansion of basic genetic knowledge courses and clinical genetic training in the curriculum should be adopted to prepare HCPs to enhance the integration of genetic information in clinical settings.


Asunto(s)
Servicios Genéticos , Genética Médica , Conocimientos, Actitudes y Práctica en Salud , Personal de Salud/psicología , Pacientes/psicología , Adulto , Femenino , Alfabetización en Salud/estadística & datos numéricos , Personal de Salud/estadística & datos numéricos , Humanos , Jordania , Masculino , Persona de Mediana Edad , Pacientes/estadística & datos numéricos
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