La medicina cubana por un Nobel

ABSTRACTIntroduction: The arrival in 2015 to the 900 Nobel was significant reflection of countless advances that have been made in favor of humanity. Five Cubans were nominated, two eminent figures of medical science.Objective: To base the Nobel Prize nomination of eminent Cuban doctors for his studies of yellow fever.Material and Methods: A review of 24 references of SciELO, PubMed and Scopus databases was made.Development: With one of the most important discoveries for world medicine, Carlos Finlay and Barres and Aristides Agramonte and Simoni, contributed to the solution of a major epidemiological problem that struck America for centuries for this reason they were nominated 8 and 5 times respectively to one of the most important awards in the world: the Nobel Prizes.Conclusions: the findings made by the two Cuban medical scientists about the transmitter agent of yellow fever denoted quality taught and exercised in Cuba medicine, for this reason they were proposed for the Nobel Prize for Medicine and Physiology. Introducción: el arribo en 2015 a los 900 Nobel fue reflejo significativo del sinnúmero de avances que se han efectuado a favor de la humanidad. Cinco cubanos fueron nominados al lauro, dos de ellos eminentes figuras de las ciencias médicas.Objetivo: fundamentar la nominación a Premios Nobel de eminentes médicos cubanos por sus estudios de la Fiebre Amarilla.Material y Métodos: se realizó la revisión de 24 referencias bibliográficas de las bases de datos SciELO, PubMed y Scopus.Desarrollo: con uno de los más importantes descubrimientos para la medicina mundial, Carlos Juan Finlay y Barrés y Arístides Agramonte y Simoni, aportaron la solución del mayor problema epidemiológico que azotó a América por varios siglos, razón por la cual fueron nominados 8 y 5 veces respectivamente a uno de los galardones más importantes del mundo, los Premios Nobel.Conclusiones: los descubrimientos realizados por los dos médico-científicos cubanos respecto al agente transmisor de la Fiebre Amarilla denotaron la calidad de la medicina enseñada y ejercida en Cuba, razón por la cual fueron propuestos al Premio Nobel de Medicina y Fisiología

La Escuela de Medicina de Orotta en Eritrea: otro logro de la colaboración cubana

Introducción: La solidaridad cubana se ha manifestado también en la creación de escuelas de Medicina en países pobres. Uno de ellos es Eritrea, donde fue creada la Escuela de Medicina de Orotta (EMO) por Cuba en 2004.Objetivo: Mostrar resultados del trabajo realizado en la EMO.Material y métodos: Revisamos los documentos rectores disponibles en los archivos de la EMO desde su fundación hasta febrero del 2012. Los datos obtenidos fueron analizados según criterios objetivos incluidos en la Clasificación Académica de Universidades.Resultados: Se ha seguido un plan de estudios inspirado en el cubano del 2002. La matrícula actual es de 204 varones y 60 hembras, habiendo concluido la carrera 93 estudiantes. Los resultados docentes han sido satisfactorios, refrendado por sendos exámenes externos a los cuatro primeros cursos, dados por prestigiosos profesores de universidades extranjeras acreditadas y por observadores de la OMS. Han impartido clases y formado docentes eritreos 67 cubanos, tres de ellos doctores en ciencias y 15 masters, quienes han participado en la publicación de 51 trabajos en revistas indexadas.Discusión: Las matrículas podrían ampliarse y la matrícula femenina aumentarse, teniendo en cuenta las condiciones de infraestructura, claustro, biblioteca e intranet, así como la baja cobertura médica del país. La EMO debe aportar a Eritrea en 2012 tantos médicos como los existentes a su fundación y aunque su calidad es reconocida y el trabajo realizado grande, se necesita continuar perfeccionándolo.Conclusiones: La EMO constituye otro triunfo de la solidaridad cubana con los desposeídos del mundo.Palabras clave: docencia médica, solidaridad cubana, Eritrea

Genética Médica y personalidades mundiales: Personajes con enfermedades de causa genética o errores en la morfogénesis

Introducción: la Genética Médica es la ciencia  de  la  variación  biológica y su relación con la salud y la enfermedad, su objeto de estudio es la prevención y tratamiento de las enfermedades genéticas y los defectos congénitos. A lo largo del desarrollo de la humanidad personalidades destacadas han sufrido estas afecciones. Conocer su historia es de gran interés para quienes nos dedicamos a las ciencias médicas. Objetivo: identificar personalidades que se asume, o se conoce, presentaron enfermedades de causa genética y/o defectos de la morfogénesis. Material y método: se realizó una búsqueda bibliográfica utilizando principalmente la base de datos PubMed. Se confeccionó una estrategia en la que se utilizó como términos preferentes “famous persons" y "genetic diseases, inborn”. Fueron seleccionados materiales publicados en inglés o español a los que se tuvo acceso a texto completo, evaluando su contenido. Resultados: se identificaron personas famosas que han sufrido alguna enfermedad de causa genética, muchos de ellos pudieron tener mayor éxito de haberse diagnosticado precozmente y obrado en consecuencia. Conclusiones: el ser humano puede lograr grandes metas, cuando se lo propone; aunque indudablemente la aplicación de los avances de la ciencia puede llevar a que su vida sea más plena

Didactic strategy to increase knowledge of the clinical method in genetics

Background: The current challenges of Clinical Genetics include the integration into medical practice of the fundamental tools that constitute the diagnostic process, with the basic knowledge of the specialty. However, in training professionals, there is a tendency to prioritize the application of technology. Aim: To increase the knowledge that supports the application of the clinical method in residents of Clinical Genetics.Methods: A quasi-experimental study of longitudinal strategy, educational intervention type (before and after design) was carried out with 25 resident physicians of Clinical Genetics, who gave their consent to participate. Two equivalent instruments were applied, validated by expert criteria, which consisted of five forced choice questions, true and false type, where knowledge necessary for the diagnosis related to Medelian inheritance, congenital defects, molecular genetics, dysmorphic signs and diagnostic tools were explored. Mac Nemar's Chi-square was applied for dichotomous nominal qualitative variables in related or paired samples with a significance level of 0.05, in order to demonstrate the impact of the intervention on each of the evaluated topics. The educational intervention consisted of an interactive talk. Results: It was found that with the educational intervention the knowledge related to dysmorphic signs and diagnostic tools increased statistically significantly. Conclusion: The educational intervention raised the level of knowledge on the subject of dysmorphic signs, as well as on diagnostic tools

Jimma, the first Medical School founded by Cuba in the African horn

Introduction:  Internationalism has been a distinctive feature of the Cuban Revolution, highlighting the international aid in health care and the formation of human resources, issue that we consider should be better known. Objective: To describe some experiences in the foundation of the first Medical School created with Cuban medical personnel in the African horn, in the town of Jimma, Ethiopia in 1985. Material and Methods: A historical-descriptive study was conducted.  It was based on bibliographic reviews, interviews, and an exchange of correspondence between the participants and their relatives. Development: Ethiopia, one of the most underdeveloped and poor countries in Africa, had two Medical Schools and around 400 doctors for a population of about 40 million inhabitants. Cuba collaborated with the facilitation of a teaching staff for the foundation of a third school and the improvement of the training of health care personnel.  The education was based on the ethical foundations of our Medicine. As a distinctive feature, the curriculum had to be adapted to the one which was used in that country.  The classes were taught in English and the students were subjected to an external examination at the end of each course. The first group of teachers stayed there for more than 31 months, and taught more than 200 students, in two consecutive courses. The first 67 doctors graduated In 1990. Conclusions:The Medical School founded by Cuba in Jimma, Ethiopia, constitutes an important milestone in our history of Cuban internationalist aid in health care and education. Keywords: History, Internationalism, Medical Teaching, Medical School, Jimma, Ethiopia, African Horn.</p

Knowledge about some aspects of Genetics in physicians of primary care

Background: The national program for diagnosis, management and prevention of genetic diseases is being conducted in our country with the main goal of a community-based scope, being applied by general comprehensive physicians. Mistakes in interpreting basic concepts in Genetics usually appear among family doctors and may disturb the proper development of the program.Aim: To identify training needs among professionals working in primary health care.Material and Methods: A descriptive and transversal research was conducted. An evaluation instrument validated by experts, was applied to18 doctors working in the primary health care areas of the Faculty of Medical Sciences Miguel Enriquez, who voluntarily accepted to participate in the research.Results: In most cases amniocentesis concept was no correct. This mistake was also observed in the literature. Doctors graduated after 2009, who were taught Medical Genetics as a curricular subject, had the best results.Conclusions: The design of postgraduate courses in Genetics, for doctors working in primary healthcare, must also include practical features of the program, and emphasize on some concepts necessary for the development of the Genetics program

Association of T352C and A16974C polymorphisms with lepromatose leprosy in Cuban patients

Introduction: Leprosy is an infectious disease caused by Mycobacterium leprae. Dermatoglyphic patterns of Cuban patients with lepromatose leprosy showed evidential signs of the existence of genetic predisposition to the development of this disease, which suggests a search for the association with molecular polymorphisms of higher degree of accuracy. Among them, some of the most studied are the T352C vitamin D receptor gene and the A16974Cof the IL12p40 gene, which relative usefulness depends on the population. Objective:To determine whether there is an association between the T352Cand A16974C polymorphisms with lepromatose leprosy in Cuban patients.Material and methods:An observational analytical case-control type genetic association study was conducted where patients with lepromatose leprosy and controls were studied. Genotypes related to T352Cand A16974C polymorphisms were identified in each group.  Pearson´s chi square test was used to determine whether the controls were in Hardy-Weinberg equilibrium, and also whether there was a relation between polymorphisms and the presence of diseases. Results: There were 32 patients under study for T352C polymorphism, and 42 for A16974C. The controls were 64 and 44, respectively; and these were in Hardy-Weinberg equilibrium.  No association between T352Cand A16974C polymorphisms with lepromatose leprosy was detected. Conclusions:  T352Cand A16974C polymorphisms are not useful as a predisposing risk factor in the group of Cuban patients with lepromatose leprosy studied.Keywords: Leprosy, genetic polymorphism, genetic predisposition to disease, Cuba, Hardy-Weinberg equilibrium, alleles.</p

Detección del polimorfismo p.K952L en pacientes cubanos con la enfermedad de Wilson

Fundamento: La enfermedad de Wilson es una entidad rara con patrón de herencia autosómico recesivo, a causa de las mutaciones en el gen ATP7B, lo cual provoca la acumulación de cobre en tejidos y órganos. En la literatura se informan más de 800 polimorfismos.Objetivo: identificar el polimorfismo p.K952L en los pacientes cubanos con diagnóstico clínico presuntivo de enfermedad de Wilson.Métodos: se realizó un estudio descriptivo, en el Centro Nacional de Genética Médica y el Instituto Nacional de Gastroenterología, que incluyó 35 pacientes con diagnóstico clínico de la enfermedad de Wilson. La extracción del ADN fue por la técnica de precipitación salina; y la amplificación del fragmento de interés, mediante la técnica de Reacción en Cadena de la Polimerasa. Además, se empleó la técnica de Polimorfismo Conformacional de Simple Cadena para la determinación de los cambios conformacionales y la presencia del polimorfismo p.K952L.Resultados: en el exón 12 se identificaron los cambios conformacionales denominados b y c, que correspondieron al polimorfismo p.K952L en estado heterocigótico y homocigótico, respectivamente. La frecuencia alélica del polimorfismo p.K952L fue de 38,6 %. Las manifestaciones más frecuentes en los pacientes que presentaron este polimorfismo fueron las hepáticas.Conclusión: se identificó el polimorfismo p.K952L en 21 pacientes cubanos con diagnóstico clínico de enfermedad de Wilson, lo cual posibilita ampliar los estudios moleculares por métodos indirectos.</p

p. K832R and p. T991T polymorphisms’ analysis in Cuban patients with clinical diagnosis of Wilson's disease

Introduction: Wilson's disease is characterized by accumulation of copper in the liver, brain and cornea. It is transmitted with an autosomal recessive inherited disorder. The molecular causes are mutations in the ATP7B gene. It has been reported in the literature more than 139polymorphisms of the ATP7B gene. Objective: Identify the conformational changes in exons 10 and 13 and detect the polymorphisms p.K832R and p.T991T in the ATP7B gene in Cuban patients with clinical diagnosis of Wilson's disease. Material and Methods: Was performed a descriptive study including 27 patients with Wilson’s disease ranging in the time from 2012 to 2013. Were applied the polymerase chain reaction to amplify the fragment of interest and the Conformation Polymorphism Single-Chain procedures in the exon 10 and 13 of the ATP7B gene. The p. K832R and p. T991T polymorphisms were detected by sequencing this fragment. Results: Three different conformational changes were identified: (a, b and c) in exon 10 and (a and b) in exon 13 of the ATP7B gene. The allelic frequency of polymorphisms p. K832R and p. T991T in 27 Cuban patients with clinical diagnosis of Wilson's disease is 35.2% and 5.6%, respectively. Conclusions: It is the first time in Cuba that a combination of the polymorphisms p. K832R and p. T991T were identified which will allow to make possible molecular studies by indirect methods.Keywords: Wilson’s disease, p. K832R polymorphism, p. T991T polymorphism, SSCP, sequencing, ATP7B gene.</p