Translocación cromosómica no balanceada t(5; 7)(q22; p15) en un niño con anomalías congénitas: reporte de caso clínico / Unbalanced chromosomal translocation t(5; 7)(q22; p15) in a child with congenital anomalies: clinical case report

Resumen Introducción: La incidencia de las anomalías congénitas es de 0,5% dentro de los cuales el 0,1-0,3% corresponden a anomalías cromosómicas estructurales, entre ellas están las translocaciones no balanceadas en las que hay pérdida o ganancia de información genética que da como resultado manifestaciones fenotípicas con compromiso en la salud de quienes las padecen. Reporte de caso: Se describe un paciente escolar con una translocación no balanceada t(5;7) (q22;p15) de origen paterno y sus repercusiones. Discusión: Cuando existen reordenamientos en el material genético, las manifestaciones clínicas están ligadas a la localización de los puntos de ruptura y como consecuencia a los genes que estén incluidos en estos segmentos, tal como se presentó en nuestro caso índice. Conclusiones: Es importante el estudio de estos pacientes ya que deben permanecer en vigilancia médica por el riesgo de desarrollar patologías relacionadas con alteraciones en los genes implicados en el reordenamiento genético.

Abstract Introduction: The incidence of congenital anomalies is 0,5%, wich 0,1 to 0,3% belong to structural chromosomic anomalies, between these are unbalanced translocations in which there are loss or gain of genetic information that results in phenotypic manifestations with health compromise of whom suffer it. Case report: A scholar patient with an unbalanced translocation t(5;7) (q22;p15) of paternal origin and its repercussions is described. Discussion: When there are rearrangements in genetic material, the clinical manifestations are linked to breakpoints localizations and as consequence to the genes included in this segments, as presented in our index case. Conclusions: The study of these patients is important because they must remain under medical surveillance due the risk of developing pathologies related with gene alterations implicated in the genetic rearrangement.

Necesidad de autocuidado en la mujer: un reto para la prevención de la enfermedad cardiovascular / Need for women self-care: a challenged for the prevention of cardiovascular disease

Introducción: la agencia del autocuidado es la capacidad que tiene el individuo de cuidarse a sí mismo, donde pueden influir diversos factores propios o factores condicionantes que afecten las características de la salud de la persona. Objetivo: evaluar la capacidad de agencia de autocuidado en la mujer para la prevención de la enfermedad cardiovascular. Métodos: revisión bibliográfica en libros, información oficial registrada en bases de datos de metabuscadores reconocidos internacionalmente durante el periodo 2000-2013 tendiendo en consideración criterios óptimos de inclusión y exclusión referente al tema investigado. Conclusiones: los programas de salud pública en atención primaria cumplen con la planeación en prevención y promoción hacia la salud cardiovascular, pero la evidencia científica no logra demostrar disminución de indicadores sobre morbi-mortalidad en la población femenina, por lo que se recomienda el fomento de investigaciones evaluativas del proceso educativo para realizar un diagnóstico detallado sobre estrategias de enseñanza, aprendizaje y dominio conceptual que conlleven a retroalimentar de manera contextualizada la eficacia de los programas de promoción de la salud y prevención de la enfermedad(AU)

Introduction: Self-care management is the individual capacity to care for himself or herself, in which different factor both individually-inherent or conditioning may have in influence as they affect the person's health characteristics. Objective: Assess the women's capacity for self-care management for the prevention of the cardiovascular disease. Methods: Bibliography review in books, official information records in databases of internationally renowned meta-browsers, during the period from 2000 to 2013, considering optimal inclusion and exclusion criteria referring to the investigated topic. Conclusions: Public health programs in primary health care fulfill the planning for prevention and promotion regarding cardiovascular health, but the scientific evidence does not show the decrease of morbidity and mortality in the female population, a reason why it is recommended fostering research assessing the educational process to diagnose in details the teaching, learning and conceptual management strategies leading to a contextualized feedback in the efficiency of the health promotion and diseases prevention programs(AU)

Molecular determinants of plaque size as an indicator of dengue virus attenuation.

The development of live viral vaccines relies on empirically derived phenotypic criteria, especially small plaque sizes, to indicate attenuation. However, while some candidate vaccines successfully translated into licensed applications, others have failed safety trials, placing vaccine development on a hit-or-miss trajectory. We examined the determinants of small plaque phenotype in two dengue virus (DENV) vaccine candidates, DENV-3 PGMK30FRhL3, which produced acute febrile illness in vaccine recipients, and DENV-2 PDK53, which has a good clinical safety profile. The reasons behind the failure of PGMK30FRhL3 during phase 1 clinical trial, despite meeting the empirically derived criteria of attenuation, have never been systematically investigated. Using in vitro, in vivo and functional genomics approaches, we examined infections by the vaccine and wild-type DENVs, in order to ascertain the different determinants of plaque size. We show that PGMK30FRhL3 produces small plaques on BHK-21 cells due to its slow in vitro growth rate. In contrast, PDK53 replicates rapidly, but is unable to evade antiviral responses that constrain its spread hence also giving rise to small plaques. Therefore, at least two different molecular mechanisms govern the plaque phenotype; determining which mechanism operates to constrain plaque size may be more informative on the safety of live-attenuated vaccines.

Accumulation and distribution of organochlorines (PCBs and DDTs) in various organs of Stenella coeruleoalba and a Tursiops truncatus from Mediterranean littoral environment (France).

The objective of the present study is to determine the levels of contamination by PCBs, DDT and its metabolites in dolphins failed on the coasts of the Mediterranean sea. Samples are represented by six Stenella coeruleoalba and a Tursiops truncatus collected in 2000 and 2003. The studies are achieved on the blubber, the heart, the liver, the kidney, the muscle and the lung. The concentrations of PCBs and DDT are very high in all tissues and organs analyzed. For the PCBs, the concentrations vary between 43,838 and 110,343 microg/kg lipid basis in the blubber, 601 and 39444 microg/kg dried weight in the liver, 1375 and 34512 microg/kg dried weight in the muscle, 3151 and 17082 microg/kg dried weight in the heart, 674 and 12365 microg/kg dried weight in the kidney and finally between 648 and 4118 microg/kg dried weight in the lung. These values are comparable to those previously obtained in our laboratory and by other authors during the years 1990 on the Mediterranean environment. Significant differences in concentrations are noted in tissues and organs, neither according to the age, nor according to the gender. In all the analyzed samples, the contents in PCBs are higher than those of DDT. The average ratios of pp'-DDE/SigmaDDT are close to 0.6 which shows the metabolization of these compounds along the years. The examination of the profiles of congeners shows that the hexachlorinated molecules are dominating in all tissues and organs which supposes the different animals were especially exposed to Pyralen-type compounds of transformer (Dp6).