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Introducción: La anatomía hepática siempre ha sido un reto por su complejidad y variabilidad. En los últimos años, el abaratamiento de los costes ha permitido la generación de modelos 3D individualizados para cada paciente que pueden facilitar el abordaje quirúrgico de las lesiones. El objetivo principal fue determinar la utilidad del modelado 3D preoperatorio para la planificación quirúrgica en pacientes con lesiones hepáticas. Métodos: Se trata de un estudio de casos de 38 pacientes intervenidos por lesiones hepáticas múltiples ocupantes de espacio, en el cual, en un grupo seleccionado, en 19 pacientes se utilizó un modelo impreso 3D para planificar la cirugía (grupo 3D) y el otro grupo sin el modelo impreso 3D (grupo control). Resultados: Se observó una diferencia de medias significativa en el número de lesiones; mayor en el grupo 3D al realizar el test de Wilcoxon (p < 0,001) y un mayor número de casos con afectación vascular en este mismo grupo al realizar Chi cuadrado Pearson (p = 0,008). El resto de variables no mostraron diferencias estadísticamente significativas. A pesar de esto, la mortalidad se redujo a 0 cuando se usan modelos impresos en 3D. Conclusión: La impresión 3D permite planear, de manera más precisa, cirugías complejas del hígado, ayuda a la inclusión y exclusión de los pacientes para la cirugía, disminuyendo el tiempo de la sala de operaciones, la posterior hospitalización y las complicaciones quirúrgicas.

Introduction: Liver anatomy has always been a challenge due to its complexity and variability. In recent years, lower costs has allowed the generation of individualized 3D models for each patient, which can facilitate the surgical approach to liver lesions. The main objective was to determine usefulness of preoperative 3D modeling for surgical planning in patients with liver lesions. Methods: Quasi-experimental before-after study. 19 cases were included in which surgery was planned using a 3D printed model (13 bilobar hepatectomies, 3 of them with vascular involvement, and 6 unilobar hepatectomies, 1 of them with vascular involvement), and another 19 cases whose planning was carried out without a 3D printed model (7 bilobar segmental hepatic resections and 12 unilobar segmental resections. None of these cases had vascular involvement). Results: A significant difference in mean lesion count was observed, higher in the group of cases when performing the Wilcoxon test (p < 0.001), and a higher number of cases with vascular involvement in the same group when performing the Pearson chi-square test (p = 0.008). The rest of the variables did not show statistically significant differences. Despite this, mortality was reduced to 0 when 3D printed models were used. Conclusion: 3D printing allows for more precise planning of complex liver surgeries, helps with the inclusion and exclusion of patients for surgery, reduces operating room time, postoperative hospitalization, and surgical complications.

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Chromosomal abnormalities are largely associated with fertility impairments in the domestic horse. To date, over 600 cases of individuals carrying abnormal chromosome complements have been reported, making the domestic horse the species with the highest prevalence. However, studies analyzing the prevalence of chromosomal diseases in whole populations are scarce. We, therefore, employed a two-step molecular tool to screen and diagnose chromosomal abnormalities in a large population of 25,237 Pura Raza Español horses. Individuals were first screened using short tandem repeats parentage testing results and phenotypic evaluations. Those animals showing results suggesting chromosomal abnormalities were re-tested using a single nucleotide polymorphism (SNP)-based diagnostic methodology to accurately determine the chromosomal complements. Thirteen individuals showed a positive screening, all of which were diagnosed as chromosomally abnormal, including five 64,XY mares with sex development disorders (DSD) and four cases of blood chimerism (two male/female and two female/female cases). In addition, we detected one Turner and one Klinefelter syndrome and two individuals carrying complex karyotypes. The overall prevalence in the entire population was ~0.05%, with the prevalence of 64,XY DSD and blood chimerism ~0.02% and ~0.016%, respectively. However, the overall results should be taken with caution since the individuals carrying Turner syndrome (in full (63,X) or mosaic (mos 63,X/64,XX) forms) cannot be detected due to limitations in the methodology employed. Finally, the lack of agreement between populational studies performed using karyotyping or molecular methods is discussed. To our knowledge, this is the largest populational study performed evaluating the prevalence of the most common chromosomal abnormalities in the domestic horse.

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The analysis of the genomic landscape of inbreeding using runs of homozygosity (ROH) patterns is becoming an interesting tool to partially understand phenotypic differences among individuals. In this study, we analysed genome-wide ROH patterns in two groups of Florida goats. We first determined the inbreeding levels of each individual by calculating ROH-based inbreeding coefficients (FROH ). Then, the individuals were divided into two groups based on FROH : high inbreeding (HI, FROH >0.1) and low inbreeding (LI, FROH <0.03). Finally, we performed an extensive in-depth analysis of ROH distribution in each group separately. We found a higher abundance of short ROH in LI, whereas long ROH was more frequent in HI. Furthermore, ROH abundance was not evenly distributed among chromosomes within groups, with some chromosomes showing larger numbers of ROH, like CHI6, CHI7 and CHI27. A different landscape was observed in recent inbreeding (ROH >8 Mb), with significant increases in CHI6, CHI11 and CHI28. Determination of genomic regions with significantly increased ROH (ROH islands-ROHi) showed 13 ROHi related to whole inbreeding and five ROHi associated with recent inbreeding analysis. Within these genomic regions, 123 and 101 genes were identified in HI and LI, respectively, including 10 and seven candidate genes previously related to production, fertility and heat resistance in goats and livestock species.

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The effect of inbreeding depression on sperm motility is well documented, but its influence on sperm morphometry has been scarcely examined to date. Here, we combined the use of computer-assisted sperm morphometry analysis (CASMA) with a SNP-based genomic approach to determine and characterize the effect of inbreeding on the sperm shape of a highly inbred cattle population. We determined seven morphometric parameters on frozen-thawed sperm samples of 57 Retinta bulls: length (L, µm), width (W, µm), area (A, µm2 ), perimeter (P, µm), ellipticity (ELI; L/W), elongation (L-W)/(L + W) and perimeter-to-area shape factor (p2a; P2 /4 × π × A). The comparison of highly inbred (HI) and lowly inbreed (LI) individuals based on runs of homozygosity (ROH) inbreeding values (F ROH ) showed no differences between groups. An additional two-step unsupervised sperm subpopulation analysis based on morphometric parameters showed significant differences in the abundance of different sperm subpopulations between groups (p < 0.05). This analysis revealed that HI bulls harbored a higher percentage of narrow-head sperm as opposed to the higher percentage of large- and round-headed sperm detected in LI. A further genomic characterization revealed 23 regions differentially affected by inbreeding in both groups, detecting six genes (SPAG6, ARMC3, PARK7, VAMP3, DYNLRB2, and PHF7) previously related to different spermatogenesis-associated processes.

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Abstract Background: Heat stress derived from global warming is causing major economic losses in the livestock industry. Objective: To develop a novel methodological approach for determining the influence of climatic factors on the estimation of genetic parameters for growth traits in Retinta cattle breed by using reaction-norm models. Methods: Live weight records (n=7,753) from 3,162 Retinta calves born from 1,249 dams and 85 sires and raised in the Andalusian region (Spain) were analyzed. The effect of heat stress was measured using the temperature-humidity index, calculated with climatological data obtained from four weather stations. A bivariate-random-regression reaction-norm model was used to estimate the (co)variance components of weight until weaning in two different climatic seasons corresponding to warm and cold months. Results: The heritability pattern of individuals reared under diverse environments during the first 90 days of age was different. However, differences were not significant at the end of the growing period. Weaned calves reared during the cold season showed greater growth from 70 to 160 days in comparison with those reared during the warm season. Conclusions: Overall, this assessment did not show significant effects of the genotype-environment interaction. However, highly significant evidence of genotype-climatic condition interaction was found during the calf´s first three months of age.

Resumen Antecedentes: El estrés térmico derivado del calentamiento global está causando pérdidas económicas en la industria ganadera. Objetivo: Desarrollar un enfoque metodológico para estimar la influencia de algunos factores climáticos sobre la estimación de parámetros genéticos en las variables de crecimiento de la raza bovina Retinta. Métodos: Se analizaron registros de peso vivo (n=7.753) de 3.162 terneros hijos de 1.249 vacas y 85 toros, criados en la región de Andalucía (España). El efecto del estrés térmico se midió mediante un índice de temperatura-humedad obtenido a partir de los datos de cuatro estaciones meteorológicas. Se usó un modelo bivariado de regresión aleatoria de "norma-reacción" para estimar la (co)varianza del peso hasta el destete en dos diferentes épocas climáticas correspondientes a los meses cálidos y fríos. Resultados: Se encontraron diferencias en el patrón de heredabilidad de individuos criados en diferentes ambientes durante los primeros 90 días de vida. Sin embargo, tales diferencias no fueron significativas al final del periodo de crecimiento. Los terneros destetados en la época fría mostraron un mayor crecimiento entre 70 y 160 días en comparación con los criados en la temporada cálida. Conclusiones: Se encontró una evidencia altamente significativa de la interacción genotipo-condición climática durante los primeros tres meses de crecimiento del ternero.

Resumo Antecedentes: O estresse térmico devido ao aumento da temperatura média está produzindo grandes perdas econômicas na indústria pecuária. Objetivo: Realizar uma nova abordagem metodológica para estimar a importância dos fatores climáticos em parâmetros genéticos em variáveis de crescimento da população da raça Retinta. Métodos: Foram analisados registros de peso vivo (n=7.753) de 3.162 Retinta bezerros, nascidos de 1.249 vacas e 85 touros criados na região da Andaluzia (Espanha). O efeito do estresse térmico foi medido utilizando o índice de temperatura-umidade obtido com dados climatológicos de quatro estações meteorológicas. Um modelo de regressão aleatória bivariado de norma-reação foi usado para estimar os componentes da (co)variância do peso à desmama em duas estações climáticas com correspondência aos meses quentes e fríos. Resultados: Diferenças foram encontradas no padrão de herdabilidade de indivíduos criados em diferentes ambientes nos primeiros 90 dias de idade. No entanto, essas diferenças não foram significativas no final do período de crescimento. Os bezerros desmamados globalmente na estação fria apresentaram um crescimento maior dos 70 aos 160 dias em comparação com os indivíduos criados na estação quente. Conclusões: Uma evidência altamente significativa da interação genótipo-ambiente foi encontrada durante os primeiros três meses de crescimento do bezerro.

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The analysis of runs of homozygosity (ROH), using high throughput genomic data, has become a valuable and frequently used methodology to characterize the genomic and inbreeding variation of livestock and wildlife animal populations. However, this methodology has been scarcely used in highly inbred domestic animals. Here, we analyzed and characterized the occurrence of ROH fragments in highly inbred (HI; average pedigree-based inbreeding coefficient FPED = 0.164; 0.103 to 0.306) and outbred Retinta bulls (LI; average FPED = 0.008; 0 to 0.025). We studied the length of the fragments, their abundance, and genome distribution using high-density microarray data. The number of ROH was significantly higher in the HI group, especially for long fragments (>8Mb). In the LI group, the number of ROH continuously decreased with fragment length. Genome-wide distribution of ROH was highly variable between samples. Some chromosomes presented a larger number of fragments (BTA1, BTA19, BTA29), others had longer fragments (BTA4, BTA12, BTA17), while other ones showed an increased ROH accumulation over specific loci (BTA2, BTA7, BTA23, BTA29). Similar differences were observed in the analysis of 12 individuals produced by a similar inbred event (FPED3 = 0.125). The correlation between the fraction of the genome covered by ROH (FROH) and FPED was high (0.79), suggesting that ROH-based estimations are indicative of inbreeding levels. On the other hand, the correlation between FPED and the microsatellite-based inbreeding coefficient (FMIC) was only moderate (r = 0.44), suggesting that STR-based inbreeding estimations should be avoided. Similarly, we found a very low correlation (r = -0.0132) between recombination rate and ROH abundance across the genome. Finally, we performed functional annotation analyses of genome regions with significantly enriched ROH abundance. Results revealed gene clusters related to pregnancy-associated proteins and immune reaction. The same analysis performed for regions enriched with recently formed ROH (> 8 Mb) showed gene clusters related to flagellum assembly. In both cases, the processes were related to male and female reproductive functions, which may partially explain the reduced fertility associated with inbred populations.

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Objetivos: El cáncer colorrectal (CCR) presenta elevada incidencia y mortalidad con diferentes tendencias según localización anatómica y otras características anatomopatológicas que parecen vinculadas a cambios tanto a la exposición a factores de riesgo como al diagnóstico siendo esencial una adecuada filiación tumoral para valorar el efecto de dichos factores en la aparición, diagnóstico y progresión de la enfermedad. El objetivo fue describir las características clínicas y anatomopatológicas de pacientes diagnosticados de CCR en el Área de Salud de León en función de la localización tumoral y del grado de diferenciación. Métodos: Se estudió una serie de 408 casos de entre 25 y 85 años con diagnóstico confirmado de CCR, recogiéndose información de características clínicas y anatomopatológicas y de los biomarcadores analizados en la rutina clínica. Se realizó análisis univariable y bivariable según el grado de diferenciación y la localización tumoral. Resultados: El tamano tumoral disminuye desde colon proximal a recto (Colon Proximal = 5,13 cm: Colon Distal = 4,09cm: Recto = 3,17cm; p< 0,001) siendo el TNM también mayor en zonas proximales. Los adenocarcinomas mucinosos son más frecuentes en tumores pobremente diferenciados que en bien diferenciados (23,1% vs 5,5%). Las invasiones linfática, venosa y peritumoral son más frecuentes con menor grado de diferenciación. Conclusiones: La distribución del estadio tumoral en función de la localización tiene estadios TNM más avanzados en zonas proximales, lo que podría asociarse a una menor detección precoz en dichos casos. La asociación entre invasión venosa y linfática con el grado de diferenciación es poco conocida requiriéndose estudios que aclaren su posible interés pronóstico.

Aims: Colorectal cancer (CRC) has a high incidence and mortality, with different patterns depending on anatomical location and other pathological characteristics that appear linked to changes in exposure risk factors exposure as well as the diagnosis. All these make it essential to determine the source of the tumour to properly assess the effect of these factors in the development, diagnosis and progression of the disease. The aim was to describe the clinical and anatomical-pathological characteristics of patients diagnosed with CRC in the Health Area of Leon (ASL) based on their location and degree of tumour differentiation. Methods: Information was collected on the clinical and pathological characteristics, including biological markers analysed in clinical routine of 408 patients between 25 and 85 years with a confirmed diagnosis of CRC, and residents in ASL at least six months before diagnosis. Univariate and bivariate analyses were performed according to the degree of differentiation and tumour location. Results: Tumour size decreases from the colon to the rectum from location decline proximal colon to the rectum (Proximal Colon = 5.13cm; Distal Colon = 4.09cm; Rectum = 3.17cm, P< 0.001), with the TNM stage also being higher in proximal areas. Mucinous adenocarcinomas are more frequent in poorly differentiated than in well differentiated tumours (23.1% vs 5.5%). Lymphatic, venous and peri-tumour invasions are more common in poorly differentiated tumours. Conclusions: The distribution in accordance with the location has more advanced TNM stages in the proximal areas, which could be related to the poorer early diagnosis in proximal areas. The association between venous and lymphatic invasion with the degree of differentiation is poorly understood, and requires studies to clarify their possible prognostic interest.

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Se estudió la variabilidad genética de la raza Criolla Casanare de Colombia y sus relaciones con poblaciones cruzadas Cebú x Criollo, Cebú puro y Pardo Alpino. Para ello, mediante amplificación por PCR, se han analizado 22 microsatélites en 79 individuos (54 Casanare; 14 Cebú, 8 cruzados y 3 de Pardo Alpino). El número medio de heterocigotos observados y el número medio de alelos por locus fueron mayores en la población Criolla Casanare que en el resto, con valores de 0,72 y próximos a 0,70, respectivamente. Sólo el 3,6 por ciento de la variabilidad observada pudiera ser debida a diferencias entre los distintos grupos raciales (Fst global= 0,03634; P<0,01). La matriz de distancias genéticas mostró más proximidad entre los Criollos Casanare y los cruzados, que entre éstos y los Cebú. Se constató la influencia del Cebú sobre la actual raza Casanare que se encuentra en la actualidad en grave peligro de extinción.

The genetic variability of the Creole Casanare breed of Colombia and its relations with crossed populations Zebu x Creole, pure Cebu and Brown Swiss was studied. For it, by means of PCR amplification, 22 microsatellites have been analyzed in 79 individuals (54 Creole Casanare; 14 Zebu, 8 crossed Zebu x Creole and 3 Brown Swiss). The average of heterozygotos observed and the average number of alleles per locus they were major in the population Creole Casanare that in the rest with values of 0.72 and close to 0.70 respectively. Only 3.6% of the observed variability it could be due to differences between the different racial groups (global FST = 0.03634; P< 0.01). The matrix of genetic distances showed more proximity between the Creole Casanare and the crossed ones that between these and Zebu. The influence of the Zebu on the current breed Casanare was stated, who is at present in serious danger of extinction.

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To assist in selection schemes we carried out the first genetic characterization of the Spanish Trotter horse (Trotador Español). We used 16 microsatellite markers to genotype 40 unrelated Spanish trotters, 25 native Balearic horses (11 Menorquina and 14 Mallorquina horses) and 32 Andalusian horses. The observed heterozygosity for the Spanish Trotters was 0.647 ± 0.037 and the expected heterozygosity was 0.696 ± 0.026 while the average number of alleles per locus was 6.0 ± 0.341, these values being similar to the data published for other horse breeds. We also tried to establish the importance of the Mallorquina and Menorquina breeds in the present Spanish Trotter population. Only 9 percent of the total genetic variability could be attributed to differences between breeds (mean F ST = 0.09 ± 0.010). Recent migration rates were confirmed the low recent genetic relationship between the Balearic breeds and Spanish Trotters, indicating that the genetic background of the present Spanish Trotter population is not based on the native Balearic horse population.

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En españa, las razas Florida y Payoya, desempeñan un papel importante en la producción lechera caprina basada en el pastoreo extensivo, cuentan oficialmente con sus respectivas asociaciones, pero carecen de jueces para su valoración morfológica. Esta no se puede iniciar sin un estudio morfoestructural previo que determine si se requieren diferentes modelos de valoración para cada una de ellas. Este es el objetivo del presente trabajo. Para ello, se controlaron 10 variables zoométricas en 63 cabras adultas de raza Florida y 578 de Payoya, calculándose los límites biológicos y la variabilidad de cada parámetro y estimando las diferencias y el grado de discriminación entre las dos razas. En la Florida, es mínimo el grado de variación presentado, especialmente en lo relacionado con la capacidad corporal y la talla. La Payoya tiene una conformación más longilínea y hay más fluctuación en los límites de variación. Ambas razas pueden ser perfectamente diferenciadas en función de su estructura, en gran medida por los caracteres de longitud cefálica (F= 323,51 P<0,000001) y diámetro longitudinal (F= 179,62 P<0,000001). Las diferencias están tan definidas que el análisis discriminante permite una tasa de aciertos en la adscripción de los individuos a su raza de un 100 por ciento en el caso de la Florida y de un 99,8 por ciento en el caso de la Payoya. Para determinar qué variables debieran tenerse en cuenta en la valoración, se estimaron las correspondientes matrices de correlación y, desde ellas, se relizó una análisis de componentes principales sobre 5 factores que explican más del 80 por ciento de la variación. Se detectó un alto grado de correlación entre variables en ambas razas y no parece existir una relación clara entre los tipos de variables y los componentes principales en ninguna de las dos. Según lo obtenido, y propiciado por tratarse de sustratos genéticos bien diferenciados localizados en medios geográficos muy dispares, se propone diseñar dos esquemas de valoración diferentes en cuyas plantillas de valoración se tratarían de modo distinto, sobre todo, las variables de la grupa, las medidas del tórax y los perímetros, dado que éstos explican la varianza total en diferente medida en cada raza

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