A importância da qualidade da informação na predição de valores genéticos para características de crescimento em bovinos da raça Nelore / The importance of quality information to predict breeding values for growth traits in Nelore cattle

Objetivou-se avaliar a influência da qualidade da informação na predição de valores genéticos para características de crescimento em bovinos da raça Nelore. Foram utilizadas informações de fazendas participantes do Programa Nelore Brasil da Associação Nacional de Criadores e Pesquisadores, considerando-se dados zootécnicos obtidos entre 2012 e 2013. Foram analisadas as características de crescimento relacionadas aos pesos aos 120 (P120), 210 (P210), 365 (P365) e 450 (P450) dias de idade, sob diferentes cenários: inclusão de todas as informações de lote de manejo (cenário de referência) e inclusão aleatória de 90%, 70%, 50%, 30% e 0% das informações de lote de manejo dos animais com medidas fenotípicas. Os valores genéticos foram preditos mediante análises unicaracterísticas sob modelo animal. Ocorreram alterações em todos os parâmetros genéticos quando comparados aos obtidos pelo cenário de referência. Houve um aumento nas estimativas de herdabilidade à medida que se reduziu o número de informações sobre os lotes de manejo. Esses resultados sugerem que o progresso genético estimado para rebanhos com baixa qualidade da informação zootécnica pode não expressar adequadamente o que realmente está ocorrendo com o rebanho, uma vez que as estimativas de herdabilidade podem estar infladas. Verificou-se que houve alteração na classificação dos animais para todas as características de crescimento avaliadas. A qualidade da informação zootécnica influencia na predição dos valores genéticos para as características de crescimento.

The objective was to evaluate the influence of information quality in the prediction of genetic values for the Nellore cattle's growth traits. The information came from cattle farms participating in the program of the Brazilian National Association of Breeders and Researchers (ANCP), from 2012 to 2013. Field data such as batch or management group were considered assessment criteria, and the growth traits related to body weight at 120 (W120), 210 (W210), 365 (W365) and 450 (W450) days under different scenarios: inclusion of all management lot information; and random inclusion of 90%, 70%, 50%, 30% and 0% of the batch management of information from animals with phenotypic measurements. Breeding values were predicted by using univariate models in animal model. Changes on all genetic parameters were compared to those obtained in the reference scenario. There was an increase in the estimates of heritability as it reduced the number of details about lots of management. These results suggest that gene progress estimated herds with low quality information do not adequately represent what truly occurs with the herd, since heritability estimates may be inflated. Change in the classification of animals was found at all the growth traits. The quality information influences the prediction of breeding values for growth traits.

Síndrome Kenny-Caffey en varios miembros de una familia / Kenny-Caffey Syndrome in several members of a family

El síndrome Kenny-Caffey es una enfermedad hereditaria, extremadamente rara, que se transmite de forma autosómica dominante y se caracteriza por retraso del crecimiento, anomalías oculares, hipocalcemia y engrosamiento cortinal de los huesos largos, cuyo diagnóstico precoz e intervención temprana ayudarán a mejorar la calidad de vida de los afectados. Se presenta a 2 miembros de una familia (la madre y un hijo), atendidos en la consulta de genética clínica de la provincia de Holguín, con características clínicas que se correspondían con dicho síndrome, para compartir estos hallazgos con la comunidad médica en general, pues llamó la atención que estuvieran afectados 3 personas de una misma familia, aunque solo se describe a 2 de ellos

The Kenny-Caffey syndrome is a hereditary, extremely strange disease that is transmitted in an autosomal dominant way and is characterized by growth failure, ocular anomalies, hypocalcemia and cortinal swelling of the long bones whose early diagnosis and intervention will help to improve the life quality of affected patients. Two members of a family are presented (mother and a son), assisted in the clinical genetics service in Holguín, with clinical characteristics that fitted with this syndrome, to share these findings with the medical community in general, because the fact that 3 people of the same family were affected attracted attention, although just 2 of them are described

Algunos factores familiares asociados a fallo de medro en lactantes / Some Family Factors Associated To Growth Failure in Infants

Introducción: el fallo de medro es un problema comúnmente identificado en consultas ambulatorias, asociado con frecuencia a problemas médicos y psicosociales. Objetivo: identificar algunos factores familiares de riesgo de fallo de medro en lactantes. Métodos: estudio observacional de cohortes, prospectivo, en el Policlínico "Manuel González Díaz", del municipio Bahía Honda, provincia Artemisa, en el período de enero de 2009 a mayo de 2011. El universo estuvo constituido por 815 lactantes que cumplieron los criterios de inclusión del estudio. Se realizó un muestreo aleatorio estratificado, dividiéndose a la población en dos estratos, en dependencia de la presencia o no de fallo de medro, conformándose un grupo de casos constituido por 158 lactantes con fallo de medro y un grupo de control formado por 316 lactantes sin fallo de medro. El trabajo se desarrolló en dos etapas. En la primera, se efectuó la captación de los niños que formaron parte del estudio y se identificó la incidencia de la entidad en lactantes nacidos durante la etapa investigada. La segunda, posibilitó el diagnóstico de los factores de riesgo. Resultados: la incidencia de fallo de medro en lactantes fue del 19,4 por ciento. Ser hijo de madre no acompañada [OR 1,9; IC 95 por ciento (1,24-2,91)] y vivir en el seno de una familia disfuncional [OR 4,5; IC 95 por ciento (2,94-6,95)] constituyeron factores asociados a dicha entidad. Conclusiones: el fallo de medro es un problema identificado frecuentemente por médicos de familia. Ser hijo de madre no acompañada y vivir en el seno de una familia disfuncional constituyeron factores de riesgo asociados a esta condición(AU)

Introduction: the failure to thrive is a common problem identified in ambulatory medicine, frequently associate with medical and psychosocial disorder. Objectives: to identify some risk families factors of failure to thrive in breastfed babies. Methods: a prospective cohort study was conducted in "Manuel Gonzalez Diaz" polyclinics in Bahia Honda municipality in two phases in the 2009 to 2011 period. In the first phase, the screening of children who participated in the study and of the incidence of disease together with the description of the relevant characteristics in 815 breastfed babies born in the studied phase; in the second one, the diagnosis of risk family factors was possible. Results: the incidence of the failure to thrive in breastfed babies was 19.4 percent. To be child of unmarried woman [OR 1,9 IC 95 percent (1,24-2,91)] and to live under dysfunctional family [OR 4,5 IC 95 percent (2,94-6,95)] were factors associates to failure to thrive. Conclusions: the failure to thrive is a common entity, identify for family doctors. To be child of unmarried woman and to live under dysfunctional family were factors associates to failure to thrive in breastfed babies(AU)

Epigenetics in the nervous system: An overview of its essential role.

The role that epigenetic mechanisms play in phenomena such as cellular differentiation during embryonic development, X chromosome inactivation, and cancers is well‑characterized. Epigenetic mechanisms have been implicated to be the mediators of several functions in the nervous system such as in neuronal‑glial differentiation, adult neurogenesis, the modulation of neural behavior and neural plasticity, and also in higher brain functions like cognition and memory. Its particular role in explaining the importance of early life/ social experiences on adult behavioral patterns has caught the attention of scientists and has spawned the exciting new field of behavioral epigenetics which may hold the key to explaining many complex behavioral paradigms. Epigenetic deregulation is known to be central in the etiology of several neuropsychiatric disorders which underscore the importance of understanding these mechanisms more thoroughly to elucidate novel and effective therapeutic approaches. In this review we present an overview of the findings which point to the essential role played by epigenetics in the vertebrate nervous system.

Lactancia materna / Breastfeeding

La leche materna (LM) es insustituible. Mediante la ingestión de LM se asegura una adecuada nutrición. Sedebe motivar a la madre y promover que asista a clases sobre LM y su lectura. Hay que estimular la LM dentro de la primera hora después del parto. La madre debe ofrecer ambos senos, alternando el lado que ofrece primero en cada toma para incrementar la estimulación de la producción de la leche. Se debe evitar tetadas poco frecuentes e insuficientes. La LM fresca puede estar a temperatura ambiente por 6 horas. La madre debe cambiarle el pañal al niño antes de amamantarlo, cuando esté mojado o sucio. El volumen diario de LM se puede estimar mediante algunos métodos sencillos. Se ha visto mejores resultados en aquéllas mujeres donde se les promovió la LM preparto ya sea de forma individual o grupal.

Breast milk (BM) is irreplaceable. By BM intake ensures adequate nutrition. It should motívate andeocurage the mother to attend clases and reading on BM. BM must be stimulated within the first hour afterbirth. The mother should offer both breasts, alternating offered first at each feeding to increase the stimulation of milk production. Avoid infrequent and isufficient breast feeds. The BM can be cool at room temperatura for 6 hours. The mother should change her diaper the child before feeding, when it is wet or dirty.

Physical characteristics at different ages / Características físicas en diferentes edades

The purpose of this study was to study, observe, and clarify the dynamics of physical growth, as well as changes of some morphometrical and physiological variables of Kosovo population. 17,894 males from Kosovo between 6 and 51 years of age and older, were measured: body height, body weight, BMI, systolic pressure, diastolic pressure, heart rate, and VO max were recorded. The measurement data were processed through these descriptive statistical parameters: Mean, Standard-Deviation and the Coefficient of Variation, SD shows the similar dispersion of results between one age and another. CV signifies the reliability of the measurements that were carried out. The curve of body height for individuals between 6 and 17 years of age shows increases, for individuals between 18 and 40 years of age shows stable values, while for indiividuals above 40 years of age indicate a decrease.Body height difference between adults shows that adultsbetween 18 and 30 years old have the higher body height values, compared with the other two groups of tested adults. Body weight for individualsbetween 6 and 50 years old shows consistent increase of value. In individuals above 51 years of age, body weight decreases rapidly. According to BMIvalues individuals between 6 and 13 years of age were underweight. Those between 14 and 35 years of age, as well as those above 51 years of age showed normal weight. On the other hand, those between 36 and 50 years of age were slightly overweight. Systolic and diastolic blood pressure values were higher as age increased, however were not above normal values. The best results of HR and VO2max were reported in adults between 19 and 27 years of age.

El objetivo de este trabajo fue estudiar, observar, y para aclarar la dinámica de crecimiento físico, así como los cambios de algunas variables morfométricas y fisiológicas de la población de Kosovo. En 17.894 hombres en Kosovo, de entre 6 y 51 años, se tomaron las siguientes medidas: Altura y peso corporal, IMC, presiones sistólica y diastólica, frecuencia cardíaca, VO2 máx. Los datos fueron procesados a través de los siguientes parámetros estadísticos descriptivos: media, desviación estándar y coeficiente de variación. La DS muestra la dispersión de los resultados de acuerdo a la edad. CV determina la fiabilidad de las mediciones que se hicieron. La curva de la altura del cuerpo entre 6-17 años de edad aumentó entre los 18 y 40 años de edad, mientras que para individuos de más de 40 años la curva disminuye. La altura corporal mostró que los adultos entre 18-30 años son más altos, en comparación con otros dos grupos. El peso corporal aumenta desde los 6 a los 50 años edad, mientras que después de los 51 años se produce rápidamente su disminución. De acuerdo a los valores de IMC, los individuos entre 6-13 años de edad presentaban bajo peso. Los individuos entre 14-35 años y superiores a 51 años presentaban un peso normal. Los individuos entre 36-50 años, presentaron un ligero sobrepeso. Aumentaron las presiones sistólica y diastólica de acuerdo a la edad, pero no por encima del valor normal. Los mejores resultados de la frecuencia cardiaca y VO2máx se alcanzaron en los adultos entre 19 y 27 años.

El hueso en el síndrome de Turner / The bone in Turner syndrome

Las pacientes con síndrome de Turner presentan retardo en el crecimiento óseo, que determina una talla final muy inferior a la normal. Muestran anomalías óseas tales como metacarpianos cortos, cubitus valgus, genu valgum, deformidad de Madelung, micrognatia y paladar ojival, cuya etiología se atribuye a la deleción heterocigota del gen SHOX debido a la ausencia total o parcial del cromosoma X. Esta haploinsuficiencia de SHOX podría también contribuir, junto con otros genes, a la hipomineralización ósea predominantemente cortical que presentan estas niñas, la cual se agudiza en la adolescencia y en la vida adulta, etapa en la que se añade hipomineralización del hueso trabecular, producto de la deficiencia estrogénica crónica. Estas alteraciones conducen a un incremento en el riesgo de fracturas. La administración de hormona de crecimiento mejora sustancialmente la talla final, mientras que la terapia de reemplazo hormonal es fundamental para la adquisición y el mantenimiento de la densidad mineral ósea.