Marcadores de selección en cerdos Pampa Rocha: comparación con razas autóctonas de España y Portugal / Selection markers in Pampa Rocha piqs: a comparison with autochthonous breeds of Spain and Portugal

RESUMEN Objetivo. El análisis de marcadores de selección permite obtener datos de la vida evolutiva de una raza o línea y permite también evaluar la conveniencia o no de su uso en programas de mejora genética. Hemos evaluado SNPs en cuatro genes (IGF2, MC4R, PRKAG3 y PEPCK-C), que tienen importantes efectos fenotípicos, en cerdos de la raza Pampa Rocha, una raza criolla, y hemos comparado sus frecuencias alélicas con cerdos de diversas razas autóctonas y líneas de España y Portugal no sometidas a selección así como con jabalíes y cerdos de la raza Piétrain. Materiales y métodos. Los SNPs fueron analizados mediante diversas técnicas de RT-PCR. Resultados. Los resultados de los análisis muestran una similitud de frecuencias alélicas entre los cerdos de la raza Pampa Rocha y los cerdos autóctonos de la península ibérica sobre todo en el gen IGF2 y, en menor medida en el gen PEPCK-C. Sin embargo difieren considerablemente en el caso del marcador MC4R y, también en menor medida, en PRKAG3. En el trabajo se discute el uso potencial de los resultados obtenidos para orientar la selección genética de cerdos de la raza Pampa Rocha. Conclusiones. Nuestros resultados demuestran la peculiaridad de la raza Pampa Rocha con respecto a los marcadores estudiados.

ABSTRACT Objective. The analysis of selection markers allows to obtain information about the evolutive story of a particular breed or line and allows also to evaluate the usefulness of those markers for breeding programs. We have analyzed SNPs in four genes of the creole pig breed Pampa Rocha and we have compared their allelic frequencies with the allelic frequencies of diverse autochthonous breeds of Spain and Portugal and also with Piétrain pigs and wild boars. Materials and methods. The SNPs were analyzed using diverse RT-PCR methods. Results. The results of the analysis show that Pampa Rocha pigs have similar allelic frequencies with the autochthonous breeds of Spain and Portugal especially in the case of IGF2 and also, but not so coincident, in the case of PEPCK-C. However, they differ considerably for MC4R, and also, but in a lower extent, for PRKAG3. We discuss in this work the usefulness of our results for breeding of Pampa Rocha pigs. Conclusions. Our results demonstrate the peculiarity of the Pampa Rocha breed regarding the markers studied.

Perfil demográfico y clínico-funcional de pacientes con atrofia muscular espinal atendidos en el Instituto Teletón Santiago / Demographic and clinical-functional profile of patients with spinal muscular atrophy attending Instituto Teletón Santiago

Introducción: La atrofia muscular espinal (AME) es una enfermedad neuromuscular (ENM) severa caracterizada por la degeneración de las motoneuronas alfa del asta anterior de la médula espinal, generando una debilidad progresiva de la musculatura proximal. La incidencia mundial se estima en 1/6.000-10.000 nacidos vivos. Contamos con escasos datos de las características de los pacientes con AME en la población chilena. Objetivo: Determinar magnitud, características demográficas y clínico funcionales de los pacientes con AME atendidos en el Instituto Teletón Santiago (ITS). Pacientes y Método: Estudio descriptivo transversal, basado en revisión del sistema informático ITS, fichas clínicas y encuesta telefónica. Resultados: Se identificaron 62 pacientes con AME con controles en ITS, 49 (79%), fueron incluidos. 30,6%, 36,7% y 32,7% corresponden a pacientes con AME 1, 2 y 3 respectivamente. Edad promedio 10,6 ± 6,6 años; pérdida de marcha edad mediana de 6,8 años en pacientes AME 3. 67,3% requieren algún tipo de asistencia ventilatoria, 44,9% presentan trastornos de deglución, 75,5% escoliosis, 49,0% subluxación o luxación de cadera, 79,6% retracciones articulares y 65,3% dolor. En participación, el 83% de las actividades de ocio se realizan dentro del hogar, principalmente de tipo tecnológico; 77,5% realiza salidas sociales. Conclusión: Las características clínico funcionales de los pacientes con AME, evidencian un grupo que presenta un alto nivel de dependencia en todos los tipos de la enfermedad, múltiples comorbilidades y alteraciones músculo-esqueléticas secundarias y por ello requiere de un programa de rehabilitación multidisciplinaria tal como lo describe la literatura internacional.

Introduction: Spinal muscular atrophy (SMA) is a severe neuromuscular disease (NMD) characterized by the loss of alpha motor neurons of the anterior horn of the spinal cord, causing progressive weakness of proximal muscles. Global prevalence is estimated to be 1/6,000-10,000 live births. There is limited data on SMA patients in the Chilean population. Objective: To establish the scale, demographics and functional-clinical characteristics of SMA patients attending Instituto Teletón Santiago (ITS). Patients and Method: Cross-sectional, descriptive study based on the review of ITS's data information system, clinical records and telephone surveys. Results: 62 SMA patients were identified attending regular controls at ITS, 49 (79%) were included in the study. 30.6%, 36.7% and 32.7% correspond to SMA 1, 2 or 3, respectively. Average age 10.6 ± 6.6 years; loss of gait at a median age of 6.8 years in SMA 3 patients. 67.3% require some type of breathing assistance, 44.9% have swallowing problems, 75.5% scoliosis, 49% hip dislocation or subluxation, 79.6% contracture of joints and 65.3% pain. In terms of social participation, 83% of recreational activities are carried out indoors, mainly related to the use of technology; and 77.5% go out to take part in social activities. Conclusion: Functional-clinical characteristics of SMA patients show that there is a group with high levels of dependence in all types of the disease, multiple concurrent disorders and secondary musculoskeletal conditions, and therefore, in the necessity to have a multidisciplinary rehabilitation system, as described in international literature.

Immune factors and immunoregulation in tuberculosis

Pathogens causing tuberculosis and other chronic infectious diseases of major public health importance commonly have complex mechanisms involved in their persistence in the host despite specific and sometimes strong immune responses. These diseases are also associated with the lack of efficient vaccines, difficult therapeutics and a high mortality rate among susceptible individuals. Here, we will review features of the host immune response that contribute to the occurrence of disease. In addition, we propose that the immune responses observed in tuberculosis cannot be interpreted solely on the basis of a Th1-Th2 counter-regulatory paradigm since there is growing evidence that natural regulatory T cells may play an important role in the regulation of host immune responses against Mycobacterium tuberculosis. Thus, the development of more effective vaccines against this bacterial disease should take into account the role of natural regulatory T cells in the progression to severe disease and persistence of infection. Finally, new treatments based on manipulation of regulatory T cells should be investigated.

Early lipid alterations in spontaneously diabetic rats

Human and experimental diabetes mellitus extensively alters lipid metabolism. The eSS is a rat strain that develops a spontaneous diabetes of slow evolution, resembling the non-insulin-dependent diabetes mellitus of young people. We report here disturbances in lipid metabolism of 5-month old eSS rats compared to age-matched alpha-controls. Normal plasmatic glucose levels were found in the fasted state, whereas a diabetic curve was evident for eSS rats after glucose load. Triglyceride content was elevated in plasma and in liver microsomal preparations of eSS animals, when compared to the controls. The diabetic strain revealed a significant fall in the amount of linoleic acid in liver and kidney microsomes and in erythrocyte membranes. In liver, an increase in 22:6 (n-3) was also noted. A depression in the content of linoleic acid as well as an enhancement of docosahexaenoic acid were detected in phosphatidylcholine and phosphatidylethanolamine fractions from liver microsomes of eSS rats. The fatty acid pattern of eSS rat testis showed a raise in the relative percentage of arachidonic and a decrease in 22:5 (n-6), 22:5 (n-3) and 22:6 (n-3) acids compared to their controls. Diabetic rats exhibited a significant increase in microsomal cholesterol content and cholesterol/phospholipid ratio in liver and testis. In the latter tissue, higher values of fluorescence anisotropy were also observed. The current observations indicate that in early stages of the diabetes onset, when eSS rats are still normoglycemic, severe alterations of lipid metabolism may contribute to the establishment and progression of the diabetic syndrome.

Efeitos de imunopotenciadores nao especificos na infeccao experimental pelo Schistosoma mansoni. I. Levamisole / Effects of non-specific immunopotentiators in experimental Schistosoma mansoni infection. I. Levamisole

Os efeitos do levamisole nas alteracoes histopatologicas, resistencia do hospedeiro e quimiotaxia "in vitro" foram estudados na infeccao experimental pelo Schistosoma mansoni em camundongos da linhagem C57B1/10. O tratamento profilatico resultou em um aumento no numero de vermes adultos obtidos pela perfusao e tambem em uma taxa de mortalidade maior (p<0,05). As alteracoes histopatologicas (figado e intestino) foram similares em todos os grupos. Uma reducao significante da quimiotaxia "in vitro" ocorreu em camundongos controles infectados, assim como naqueles submetidos a tratamento profilatico com levamisole. A atividade quimiotatica atingiu os mesmos niveis dos camundongos controles normais (nao-infectados e nao-tratados com levamisole), quando o esquema curativo foi usado. O levamisole parece aumentar a susceptibilidade de camundongos da linhagem C57B1/10 a infeccao pelo S. mansoni quando administrado antes da infeccao e normaliza a atividade quimiotatica, quando dado apos a infeccao.

In vivo leukocyte chemotaxis during the development of acute experimental Trypanosoma cruzi infection

Five and 15 days after T. cruzi infection, staphylococcal protein A was injected into a connective tissue air pouch of mice and the migration of polymorphonuclear leukocyrtes into the area was monitored. The PMN leukocyte response of 15-day infected mice was lower than of uninfected mice (P < 0.001): The 15 - day infected mice also showed a lower leukocyte response when compared to 5 - day infected mice (P < 0.001). These data suggest that chemotaxis defect development gradually during the acute phase of infection