Molecular mechanisms of Eda-mediated adaptation to freshwater in threespine stickleback.

A main goal of evolutionary biology is to understand the genetic basis of adaptive evolution. Although the genes that underlie some adaptive phenotypes are now known, the molecular pathways and regulatory mechanisms mediating the phenotypic effects of those genes often remain a black box. Unveiling this black box is necessary to fully understand the genetic basis of adaptive phenotypes, and to understand why particular genes might be used during phenotypic evolution. Here, we investigated which genes and regulatory mechanisms are mediating the phenotypic effects of the Eda haplotype, a locus responsible for the loss of lateral plates and changes in the sensory lateral line of freshwater threespine stickleback (Gasterosteus aculeatus) populations. Using a combination of RNAseq and a cross design that isolated the Eda haplotype on a fixed genomic background, we found that the Eda haplotype affects both gene expression and alternative splicing of genes related to bone development, neuronal development and immunity. These include genes in conserved pathways, like the BMP, netrin and bradykinin signalling pathways, known to play a role in these biological processes. Furthermore, we found that differentially expressed and differentially spliced genes had different levels of connectivity and expression, suggesting that these factors might influence which regulatory mechanisms are used during phenotypic evolution. Taken together, these results provide a better understanding of the mechanisms mediating the effects of an important adaptive locus in stickleback and suggest that alternative splicing could be an important regulatory mechanism mediating adaptive phenotypes.

Local Adaptation and the Evolution of Genome Architecture in Threespine Stickleback.

Theory predicts that local adaptation should favor the evolution of a concentrated genetic architecture, where the alleles driving adaptive divergence are tightly clustered on chromosomes. Adaptation to marine versus freshwater environments in threespine stickleback has resulted in an architecture that seems consistent with this prediction: divergence among populations is mainly driven by a few genomic regions harboring multiple quantitative trait loci for environmentally adapted traits, as well as candidate genes with well-established phenotypic effects. One theory for the evolution of these "genomic islands" is that rearrangements remodel the genome to bring causal loci into tight proximity, but this has not been studied explicitly. We tested this theory using synteny analysis to identify micro- and macro-rearrangements in the stickleback genome and assess their potential involvement in the evolution of genomic islands. To identify rearrangements, we conducted a de novo assembly of the closely related tubesnout (Aulorhyncus flavidus) genome and compared this to the genomes of threespine stickleback and two other closely related species. We found that small rearrangements, within-chromosome duplications, and lineage-specific genes (LSGs) were enriched around genomic islands, and that all three chromosomes harboring large genomic islands have experienced macro-rearrangements. We also found that duplicates and micro-rearrangements are 9.9× and 2.9× more likely to involve genes differentially expressed between marine and freshwater genotypes. While not conclusive, these results are consistent with the explanation that strong divergent selection on candidate genes drove the recruitment of rearrangements to yield clusters of locally adaptive loci.

Máscara laríngea I Gel vs ProSeal en cirugía oncológica de mama / Larynx mask I Gel vs ProSeal in breast oncological surgery

Introducción: los dispositivos supraglóticos inicialmente, sólo se utilizaron para el abordaje de la vía respiratoria anatómicamente difícil. En la actualidad, los anestesiólogos disponen de varios dispositivos supraglóticos para el abordaje de la vía respiratoria. Objetivos: caracterizar comparativamente los desempeños de las máscaras laríngeas I Gel y ProSeal en el abordaje de la vía aérea, en pacientes sujetos a procedimientos de cirugía oncológica de mama. Métodos: se realizó un estudio prospectivo caso-control simple ciego, aplicado, y de evaluación, en el Hospital "Hermanos Ameijeiras", en el período de septiembre del 2009 y abril del 2012. se estudiaron 200 sujetos intervenidos por procedimientos de cirugía oncológica de mama bajo anestesia general balanceada, asignados al azar a partes iguales a cada grupo. Resultados: los dos grupos investigados presentaron similitud estadística respecto a: edad, peso corporal, estado físico, y tiempo quirúrgico. El tiempo de inserción de la máscara en el grupo Estudio fue significativamente inferior que en el grupo Control. Los valores promedio de la P1 y del Volumen de fuga fueron significativamente superiores en el grupo Control en cada uno de los instantes analizados. Los valores promedio de la PAM y la FC pertenecientes a los grupos Estudio y Control se revelaron sin diferencias estadísticamente significativas. La única complicación postoperatoria inmediata con desenlaces significativamente diferentes para los grupos fue la Disfagia leve, la cual estuvo ausente en el grupo Estudio. Conclusiones: el desempeño de la máscara laríngea I Gel fue significativamente superior al de la máscara laríngea ProSeal.

Introduction: the supraglottic devises were initiallly used only for the respiratory via boarding anatomically diffcult. Today, anesthesiologists arrange different supraglottic for the respiratory via boarding. Objective: to characterize comparatively the performances of the larynx masks I Gel and ProSeal in the boarding of the air passage in patients subject to procedures of breast oncological surgery. Methods: a case control prospective control study blind was carried out at "Hermanos Ameijeiras" Hospital during the period from September 2009 to April 2012.200 subjects intervened were studied with procedures of ontological breast surgery under general balanced anesthesia at random with equal parts in each group. Results: both groups searched presented similar statistics as to age, body weight, physical condition and surgical time. The time of insertion of the mask in the study was significantly inferior to the control group. The average values of P1 and the volume of escape were significantly higher in the control group in each of the moments analyzed. The average values of the PAM and the FC belonging to study and control groups were revealed without significant statistical differences. The only postoperative immediate complication with significant difference outcome for the groups were light swallowing which was absent in the study group. Conclusion: the performance of the larynx mask I Gel was significantly higher than the larynx mask ProSeal.

Morfina intratecal como analgésico postoperatorio en la corrección quirúrgica de escoliosis / Intratecal morphine as a preoperative analgesic in the surgical correction of scoliosis

Introducción: la escoliosis, entidad frecuente en Cuba, es fuente de preocupación e investigación por su repercusión estética y afecciones funcionales que produce. Su tratamiento definitivo es quirúrgico y el dolor es una molestia significativa para estos pacientes en el postoperatorio. Objetivos: caracterizar el desempeño de la morfina intratecal como analgésico postoperatorio en la corrección quirúrgica de escoliosis. Métodos: análisis del dolor postoperatorio de 24 pacientes portadores de escoliosis idiopática con curvaturas mayores o iguales a 40 grados divididos en un grupo «Estudio¼ receptor de morfina intratecal y un grupo «Control¼ con tratamiento convencional. Análisis estadístico con la prueba t, ANOVA, Chi-cuadrado, Odds Ratio y Correlación Lineal de Spearman con un nivel de significación de 5 %. Resultados: ambos grupos no exhibieron diferencias estadísticamente significativas respecto a edad, sexo, peso corporal, estado físico ASA, grado de escoliosis y tiempo quirúrgico pero difirieron significativamente en la analgesia de rescate requerida en la totalidad de los controles y en menos de la mitad del grupo Estudio. Solo un paciente del grupo Estudio no presentó efectos adversos atribuibles a la morfina. Los dos grupos revelaron diferencias estadísticamente significativas en relación al dolor postoperatorio a las 3, 6, 12 y 48 horas, no así a las 24 horas. Conclusiones la morfina intratecal fue altamente efectiva para disminuir el dolor postoperatorio con desempeño superior al tratamiento convencional. La incidencia y severidad de los efectos colaterales fueron aceptables y fácilmente controlables, no se presentó ninguna complicación.

Introduction: scoliosis, a frequent entity in Cuba, is a source of concern and research due to the esthetic repercussion and functional affections that produces. Surgery is the definite treatment and the pain is a significant bother for patients in postoperative. Objective: to characterize the behavior of intratecal morphine as a postoperative analgesic in the surgical correction of scoliosis. . Methods: analysis of postoperative pain in 24 patients who suffer from idiopathic scoliosis with main curvatures or equal to 40 degrees divided into a study group as a receptor of intratecal morphine and a control group with a conventional treatment. Statistical analysis with the T test , ANOVA, Chi-squared, Odds Ratio and Linear Correlation of Spearman with a level of significance of 5 %. . Results: both groups did not show significant statistical differences as to age, sex. body weight, ASA physical conditions, degree of scoliosis and surgical time but they differed significantly in the rescue analgesia in all controls and in less than the half of the study group. Only one patient of the group study did not show side effects attributed to morphine. Both groups revealed statistical differences in relation to postoperative pain at 3, 6, 12 y 48 hours, but not at 24 hours. Conclusions: intratecal morphine was effective to reduce postoperative pain with a higher behavior to conventional treatment. Incidence and severity of side effects were acceptable and easily controllable, there was no complication.

Máscara laríngea I Gel vs ProSeal en cirugía oncológica de mama / Larynx mask I Gel vs ProSeal in breast oncological surgery

Introducción: los dispositivos supraglóticos inicialmente, sólo se utilizaron para el abordaje de la vía respiratoria anatómicamente difícil. En la actualidad, los anestesiólogos disponen de varios dispositivos supraglóticos para el abordaje de la vía respiratoria. Objetivos: caracterizar comparativamente los desempeños de las máscaras laríngeas I Gel y ProSeal en el abordaje de la vía aérea, en pacientes sujetos a procedimientos de cirugía oncológica de mama. Métodos: se realizó un estudio prospectivo caso-control simple ciego, aplicado, y de evaluación, en el Hospital "Hermanos Ameijeiras", en el período de septiembre del 2009 y abril del 2012. se estudiaron 200 sujetos intervenidos por procedimientos de cirugía oncológica de mama bajo anestesia general balanceada, asignados al azar a partes iguales a cada grupo. Resultados: los dos grupos investigados presentaron similitud estadística respecto a: edad, peso corporal, estado físico, y tiempo quirúrgico. El tiempo de inserción de la máscara en el grupo Estudio fue significativamente inferior que en el grupo Control. Los valores promedio de la P1 y del Volumen de fuga fueron significativamente superiores en el grupo Control en cada uno de los instantes analizados. Los valores promedio de la PAM y la FC pertenecientes a los grupos Estudio y Control se revelaron sin diferencias estadísticamente significativas. La única complicación postoperatoria inmediata con desenlaces significativamente diferentes para los grupos fue la Disfagia leve, la cual estuvo ausente en el grupo Estudio. Conclusiones: el desempeño de la máscara laríngea I Gel fue significativamente superior al de la máscara laríngea ProSeal(AU)

Introduction: the supraglottic devises were initiallly used only for the respiratory via boarding anatomically diffcult. Today, anesthesiologists arrange different supraglottic for the respiratory via boarding. Objective: to characterize comparatively the performances of the larynx masks I Gel and ProSeal in the boarding of the air passage in patients subject to procedures of breast oncological surgery. Methods: a case control prospective control study blind was carried out at "Hermanos Ameijeiras" Hospital during the period from September 2009 to April 2012.200 subjects intervened were studied with procedures of ontological breast surgery under general balanced anesthesia at random with equal parts in each group. Results: both groups searched presented similar statistics as to age, body weight, physical condition and surgical time. The time of insertion of the mask in the study was significantly inferior to the control group. The average values of P1 and the volume of escape were significantly higher in the control group in each of the moments analyzed. The average values of the PAM and the FC belonging to study and control groups were revealed without significant statistical differences. The only postoperative immediate complication with significant difference outcome for the groups were light swallowing which was absent in the study group. Conclusion: the performance of the larynx mask I Gel was significantly higher than the larynx mask ProSeal(AU)

Morfina intratecal como analgésico postoperatorio en la corrección quirúrgica de escoliosis / Intratecal morphine as a preoperative analgesic in the surgical correction of scoliosis

Introducción: la escoliosis, entidad frecuente en Cuba, es fuente de preocupación e investigación por su repercusión estética y afecciones funcionales que produce. Su tratamiento definitivo es quirúrgico y el dolor es una molestia significativa para estos pacientes en el postoperatorio. Objetivos: caracterizar el desempeño de la morfina intratecal como analgésico postoperatorio en la corrección quirúrgica de escoliosis. Métodos: análisis del dolor postoperatorio de 24 pacientes portadores de escoliosis idiopática con curvaturas mayores o iguales a 40 grados divididos en un grupo «Estudio¼ receptor de morfina intratecal y un grupo «Control¼ con tratamiento convencional. Análisis estadístico con la prueba t, ANOVA, Chi-cuadrado, Odds Ratio y Correlación Lineal de Spearman con un nivel de significación de 5 por ciento. Resultados: ambos grupos no exhibieron diferencias estadísticamente significativas respecto a edad, sexo, peso corporal, estado físico ASA, grado de escoliosis y tiempo quirúrgico pero difirieron significativamente en la analgesia de rescate requerida en la totalidad de los controles y en menos de la mitad del grupo Estudio. Solo un paciente del grupo Estudio no presentó efectos adversos atribuibles a la morfina. Los dos grupos revelaron diferencias estadísticamente significativas en relación al dolor postoperatorio a las 3, 6, 12 y 48 horas, no así a las 24 horas. Conclusiones la morfina intratecal fue altamente efectiva para disminuir el dolor postoperatorio con desempeño superior al tratamiento convencional. La incidencia y severidad de los efectos colaterales fueron aceptables y fácilmente controlables, no se presentó ninguna complicación(AU)

Introduction: scoliosis, a frequent entity in Cuba, is a source of concern and research due to the esthetic repercussion and functional affections that produces. Surgery is the definite treatment and the pain is a significant bother for patients in postoperative. Objective: to characterize the behavior of intratecal morphine as a postoperative analgesic in the surgical correction of scoliosis. Methods: analysis of postoperative pain in 24 patients who suffer from idiopathic scoliosis with main curvatures or equal to 40 degrees divided into a study group as a receptor of intratecal morphine and a control group with a conventional treatment. Statistical analysis with the T test , ANOVA, Chi-squared, Odds Ratio and Linear Correlation of Spearman with a level of significance of 5 percent. Results: both groups did not show significant statistical differences as to age, sex. body weight, ASA physical conditions, degree of scoliosis and surgical time but they differed significantly in the rescue analgesia in all controls and in less than the half of the study group. Only one patient of the group study did not show side effects attributed to morphine. Both groups revealed statistical differences in relation to postoperative pain at 3, 6, 12 y 48 hours, but not at 24 hours. Conclusions: intratecal morphine was effective to reduce postoperative pain with a higher behavior to conventional treatment. Incidence and severity of side effects were acceptable and easily controllable, there was no complication(AU)

Anestesia en artrodesis de columna secundaria a síndrome de Marfán / Anaesthesia in a spinal column arthodesis secondary to Marfan Syndrome

Introducción: el síndrome de Marfán es un trastorno hereditario del tejido conjuntivo que cursa con enfermedades valvulares, aneurisma de la aorta torácica y laxitud articular del esqueleto. Los pacientes pueden tener importantes problemas respiratorios como la restricción de la función pulmonar debido a alteraciones de la pared torácica y cifoescoliosis, que requieren corrección quirúrgica. Objetivos: exponer la conducta anestésica seguida en una paciente se presentó para una corrección quirúrgica de escoliosis secundaria a síndrome de Marfan. Métodos: después de una valoración preoperatoria adecuada se realizó anestesia general con la técnica total intravenosa con propofol, fentanil y vecuronio. Se utilizó la hipotensión controlada y antifibrinolíticos como técnicas de ahorro de sangre y se administró morfina intratecal, que además de proporcionar adecuada analgesia posoperatoria contribuyó con la técnica de hipotensión controlada. Resultados: la paciente no presentó complicaciones quirúrgicas ni anestésicas. El sangramiento fue de 1 000 mL. Se obtuvieron buenas condiciones de analgesia durante el posoperatorio. Conclusiones: En un paciente con síndrome de Marfán la evaluación preoperatoria se debe centrar en las alteraciones respiratorias y cardiovasculares. Se obtuvieron condiciones adecuadas de analgesia con la administración de morfina intratecal.

Background: Marfan Syndrome is a hereditary disorder of the conjunctive tissue that presents with valve diseases, aneurism of the thoracic aeorta and articular lax of the skeleton. Patients can present important respiratory problems such as the restraint of the pulmonary function due to both alterations in the thoracic wall and Kyphoscoliosis that require surgical correction. Objectives: To show an anaesthetic behaviour in a patient that presented to hospital for a surgical correction of scoliosis secondary to Marfan Syndrome. Methods: General anaesthesia with the total intravenous technique with Propofol, Fentanyl and Vecuronio was given after an adequate preoperative assessment. Controlled hypotension and antifibrinolitics were used as blood-saving techniques and intrathecal Morphine was administered which, apart from providing an adequate postoperative analgesia, contributed to the controlled hypotension technique. Results: The patient presented neither surgical complications nor anaesthetic ones. Bleeding was of 1 000 mL. Good analgesic conditions were obtained during the postoperative phase. Conclusions: In a patient suffering from Marfan Syndrome, the preoperative evaluation should be focused to both respiratory and cardiovascular alterations. Adequeate analgesic conditions were obtained with the administration of intrathecal Morphine.

Anestesia en artrodesis de columna secundaria a síndrome de Marfán / Anaesthesia in a spinal column arthodesis secondary to Marfan Syndrome

Introducción: el síndrome de Marfán es un trastorno hereditario del tejido conjuntivo que cursa con enfermedades valvulares, aneurisma de la aorta torácica y laxitud articular del esqueleto. Los pacientes pueden tener importantes problemas respiratorios como la restricción de la función pulmonar debido a alteraciones de la pared torácica y cifoescoliosis, que requieren corrección quirúrgica.Objetivos: exponer la conducta anestésica seguida en una paciente se presentó para una corrección quirúrgica de escoliosis secundaria a síndrome de Marfan. Métodos: después de una valoración preoperatoria adecuada se realizó anestesia general con la técnica total intravenosa con propofol, fentanil y vecuronio. Se utilizó la hipotensión controlada y antifibrinolíticos como técnicas de ahorro de sangre y se administró morfina intratecal, que además de proporcionar adecuada analgesia posoperatoria contribuyó con la técnica de hipotensión controlada.Resultados: la paciente no presentó complicaciones quirúrgicas ni anestésicas. El sangramiento fue de 1 000 mL. Se obtuvieron buenas condiciones de analgesia durante el posoperatorio. Conclusiones: en un paciente con síndrome de Marfán la evaluación preoperatoria se debe centrar en las alteraciones respiratorias y cardiovasculares. Se obtuvieron condiciones adecuadas de analgesia con la administración de morfina intratecal(AU)

Background: Marfan Syndrome is a hereditary disorder of the conjunctive tissue that presents with valve diseases, aneurism of the thoracic aeorta and articular lax of the skeleton. Patients can present important respiratory problems such as the restraint of the pulmonary function due to both alterations in the thoracic wall and Kyphoscoliosis that require surgical correction. Objectives: To show an anaesthetic behaviour in a patient that presented to hospital for a surgical correction of scoliosis secondary to Marfan Syndrome. Methods: General anaesthesia with the total intravenous technique with Propofol, Fentanyl and Vecuronio was given after an adequate preoperative assessment. Controlled hypotension and antifibrinolitics were used as blood-saving techniques and intrathecal Morphine was administered which, apart from providing an adequate postoperative analgesia, contributed to the controlled hypotension technique. Results: The patient presented neither surgical complications nor anaesthetic ones. Bleeding was of 1 000 mL. Good analgesic conditions were obtained during the postoperative phase. Conclusions: In a patient suffering from Marfan Syndrome, the preoperative evaluation should be focused to both respiratory and cardiovascular alterations. Adequeate analgesic conditions were obtained with the administration of intrathecal Morphine(AU)