Identification of horse chestnut coat color genotype using SNaPshot®

<p>Abstract</p> <p>Background</p> <p>The Cantabrian Coast horse breeds of the Iberian Peninsula have mainly black or bay colored coats, but alleles responsible for a chestnut coat color run in these breeds and occasionally, chestnut horses are born. Chestnut coat color is caused by two recessive alleles, <it>e </it>and <it>e</it>^<it>a</it>, of the melanocortin-1 receptor gene, whereas the presence of the dominant, wild-type <it>E </it>allele produces black or bay coat horses. Because black or bay colored coats are considered as the purebred phenotype for most of the breeds from this region, it is important to have a fast and reliable method to detect alleles causing chestnut coat color in horses.</p> <p>Findings</p> <p>In order to assess coat color genotype in reproductive animals with a view to avoiding those bearing chestnut alleles, we have developed a reliable, fast and cost-effective screening device which involves Single Nucleotide Polymorphism (SNP) detection based on SNaPshot^®(Applied Biosystems) methodology. We have applied this method to four native breeds from the Iberian Cantabrian Coast: Pottoka and Jaca Navarra pony breeds, in which only black or bay coats are acceptable, and Euskal Herriko Mendiko Zaldia and Burguete heavy breeds, in which chestnut coats are acceptable. The frequency of the chestnut alleles ranged between <it>f </it>= 0.156-0.322 in pony breeds and between <it>f </it>= 0.604-0.716 in heavy breeds.</p> <p>Conclusions</p> <p>This study demonstrates the usefulness of the DNA methodology reported herein as a device for identifying chestnut alleles; the methodology constitutes a valuable tool for breeders to decrease the incidence of chestnut animals among Cantabrian Coast pony breeds.</p

Genomic Selection Signatures In Sheep From The Western Pyrenees

Background: The current large spectrum of sheep phenotypic diversity results from the combined product of sheep selection for different production traits such as wool, milk and meat, and its natural adaptation to new environments. In this study, we scanned the genome of 25 Sasi Ardi and 75 Latxa sheep from the Western Pyrenees for three types of regions under selection: (1) regions underlying local adaptation of Sasi Ardi semi-feral sheep, (2) regions related to a long traditional dairy selection pressure in Latxa sheep, and (3) regions experiencing the specific effect of the modern genetic improvement program established for the Latxa breed during the last three decades. Results: Thirty-two selected candidate regions including 147 annotated genes were detected by using three statistical parameters: pooled heterozygosity H, Tajima's D, and Wright's fixation index F-st. For Sasi Ardi sheep, chromosomes Ovis aries (OAR) 4, 6, and 22 showed the strongest signals and harbored several candidate genes related to energy metabolism and morphology (BBS9, ELOVL3 and LDB1), immunity (NFKB2), and reproduction (H2AFZ). The major genomic difference between Sasi Ardi and Latxa sheep was on OAR6, which is known to affect milk production, with highly selected regions around the ABCG2, SPP1, LAP3, NCAPG, LCORL, and MEPE genes in Latxa sheep. The effect of the modern genetic improvement program on Latxa sheep was also evident on OAR15, on which several olfactory genes are located. We also detected several genes involved in reproduction such as ESR1 and ZNF366 that were affected by this selection program. Conclusions: Natural and artificial selection have shaped the genome of both Sasi Ardi and Latxa sheep. Our results suggest that Sasi Ardi traits related to energy metabolism, morphological, reproductive, and immunological features have been under positive selection to adapt this semi-feral sheep to its particular environment. The highly selected Latxa sheep for dairy production showed clear signatures of selection in genomic regions related to milk production. Furthermore, our data indicate that the selection criteria applied in the modern genetic improvement program affect immunity and reproduction traits.The authors gratefully acknowledge support from the University of the Basque Country (UPV/EHU) and the Conservatoire des Races d'Aquitaine (US13/29

Genomic selection signatures in sheep from the Western Pyrenees

Abstract Background The current large spectrum of sheep phenotypic diversity results from the combined product of sheep selection for different production traits such as wool, milk and meat, and its natural adaptation to new environments. In this study, we scanned the genome of 25 Sasi Ardi and 75 Latxa sheep from the Western Pyrenees for three types of regions under selection: (1) regions underlying local adaptation of Sasi Ardi semi-feral sheep, (2) regions related to a long traditional dairy selection pressure in Latxa sheep, and (3) regions experiencing the specific effect of the modern genetic improvement program established for the Latxa breed during the last three decades. Results Thirty-two selected candidate regions including 147 annotated genes were detected by using three statistical parameters: pooled heterozygosity H, Tajima’s D, and Wright’s fixation index Fst. For Sasi Ardi sheep, chromosomes Ovis aries (OAR)4, 6, and 22 showed the strongest signals and harbored several candidate genes related to energy metabolism and morphology (BBS9, ELOVL3 and LDB1), immunity (NFKB2), and reproduction (H2AFZ). The major genomic difference between Sasi Ardi and Latxa sheep was on OAR6, which is known to affect milk production, with highly selected regions around the ABCG2, SPP1, LAP3, NCAPG, LCORL, and MEPE genes in Latxa sheep. The effect of the modern genetic improvement program on Latxa sheep was also evident on OAR15, on which several olfactory genes are located. We also detected several genes involved in reproduction such as ESR1 and ZNF366 that were affected by this selection program. Conclusions Natural and artificial selection have shaped the genome of both Sasi Ardi and Latxa sheep. Our results suggest that Sasi Ardi traits related to energy metabolism, morphological, reproductive, and immunological features have been under positive selection to adapt this semi-feral sheep to its particular environment. The highly selected Latxa sheep for dairy production showed clear signatures of selection in genomic regions related to milk production. Furthermore, our data indicate that the selection criteria applied in the modern genetic improvement program affect immunity and reproduction traits

Estado actual de la cirugía laparoscópica esofágica

La cirugía laparoscópica ha cambiado el abordaje terapéutico de las enfermedades esofágicas más frecuentes. Con los excelentes resultados en el control de síntomas y con la baja morbilidad asociada el tratamiento quirúrgico se indica cada vez más en la patología esofágica benigna como una alternativa superior a un tratamiento médico crónico y menos eficaz. Para la hernia de hiato y el reflujo gastroesofágico la funduplicatura de Nissen por laparoscopia es la técnica de elección. Los mejores resultados en el tratamiento de la acalasia se consiguen con la miotomia de Heller laparoscópica. Esta experiencia creciente incluye la resección de tumores de esófago combinando toracoscopia y laparoscopia con resultados similares a los de cirugía abierta

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Additional file 1. Details of the in silico simulation study that was carried out to determine the appropriate window size to be used for GWSS analysis

Cirugía bariátrica laparoscópica: bypass gástrico proximal

El espectacular aumento en la prevalencia de la obesidad en nuestra sociedad y las importantes complicaciones y comorbilidades que origina ha despertado el interés de científicos y público en esta patología. El tratamiento quirúrgico es en la actualidad el único tratamiento eficaz y duradero para la obesidad mórbida y en muchos casos, mejora sensiblemente e incluso cura definitivamente complicaciones asociadas como es el caso de la diabetes o la hipertensión. De entre las diversas técnicas de cirugía bariátrica, parece imponerse definitvamente el by-pass gástrico (BPG), al ofrecer un excelente balance entre pérdida de peso (>70% del exceso) y riesgo quirúrgico y calidad de vida posterior. La posiblidad de realizar esta técnica mediante un abordaje laparoscópico ha mejorado su aceptación por parte de médicos y pacientes al tiempo que ha permitido disminuir morbimortalidad, estancia y costes. El BPG proximal se realiza en aquellos pacientes con un IMC <60 Kg/m2; para mayores se realiza uno denominado como distal. Entre octubre de 2003 y noviembre de 2005 se han realizado en nuestro centro 55 BPG proximales en Y de Roux vía laparoscópica. Se trata de 42 mujeres y 13 varones de edad media de 44 años. El IMC medio es de 43,5 (35-55,8). La media de peso basal es de 116,15 Kg. No hubo mortalidad peroperatoria ni reintervenciones. El IMC medio a los 12 meses es de 28,4. La media de peso basal es de 74,2 Kg. El BPG proximal en Y de Roux vía laparoscópica es una técnica segura y eficaz para el tratamiento de la obesidad mórbida. Palabras clave. Obesidad. By-pass gástrico. Cirugía bariátrica

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Additional file 3. Raw data for Z(FSTp): raw data for pooled fixation index (Z(FSTp)) for each analyzed window in each comparison (SAS vs. LAS, SAS vs. LAN, and LAS vs. LAN)

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Additional file 2. Raw data for Z(Hp) and Z(Dp): raw data for pooled heterozygosity (Z(Hp)) and pooled Tajima’s D (Z(Dp)) for each analyzed window in each sequenced pool (SAS, LAS, and LAN)

Association between [18F]fluorodeoxyglucose uptake and prognostic parameters in breast cancer

Positron emission tomography (PET) with [18F]fluorodeoxyglucose (FDG) is recognized to be an accurate, non-invasive imaging modality for the diagnosis and staging of many malignancies, including breast cancer. Studies performed on different cancers have shown that hypermetabolic tumours usually have a poorer prognosis than hypometabolic tumours1. Oshida and colleagues2 have reported that a high uptake of FDG in tumour tissue can serve as a risk factor for recurrence in women with breast cancer. There are various prognostic factors related to breast cancer. Some provide important information that can affect management, such as axillary lymph node status, presence of metastases, and oestrogen and progesterone receptor status. Others such as p53 immunoreactivity are relevant clinically, but are still not used routinely for risk stratification. Most factors can be assessed only after surgery1. Preoperative prediction of patient prognosis is becoming more important because an increasing number of women with breast cancer have neoadjuvant chemotherapy with the aim of downstaging their disease, and increasing the feasibility of breast-conserving surgery. It may also be possible to evaluate the chemosensitivity of the breast tumour; FDG–PET seems to be promising for this purpose3. FDG–PET before surgery may provide important information about tumour metabolism and its proliferation rate which could be of prognostic significance. Calculating FDGuptake bymeans of a simple method, the standardized uptake value (SUV), can be done before surgery, andmight be associated with the biological aggressiveness of breast cancer. The aim of this study was to determine the possible correlation between FDG uptake and well established prognostic markers in women with breast cancer