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Genomic tools have shown promising results in maximizing breeding outcomes, but their impact has not yet been explored. This study aimed to outline the effect of the individual haplotypes of each component of the casein complex (αS1, ß, αS2, and κ-casein) on zoometric/linear appraisal breeding values. A discriminant canonical analysis was performed to study the relationship between the predicted breeding value for 17 zoometric/linear appraisal traits and the aforementioned casein gene haplotypic sequences. The analysis considered a total of 41,323 zoometric/linear appraisal records from 22,727 primiparous does, 17,111 multiparous does, and 1,485 bucks registered in the Murciano-Grandina goat breed herdbook. Results suggest that, although a lack of significant differences (p > 0.05) was reported across the predictive breeding values of zoometric/linear appraisal traits for αS1, αS2, and κ casein, significant differences were found for ß casein (p < 0.05). The presence of ß casein haplotypic sequences GAGACCCC, GGAACCCC, GGAACCTC, GGAATCTC, GGGACCCC, GGGATCTC, and GGGGCCCC, linked to differential combinations of increased quantities of higher quality milk in terms of its composition, may also be connected to increased zoometric/linear appraisal predicted breeding values. Selection must be performed carefully, given the fact that the consideration of apparently desirable animals that present the haplotypic sequence GGGATCCC in the ß casein gene, due to their positive predicted breeding values for certain zoometric/linear appraisal traits such as rear insertion height, bone quality, anterior insertion, udder depth, rear legs side view, and rear legs rear view, may lead to an indirect selection against the other zoometric/linear appraisal traits and in turn lead to an inefficient selection toward an optimal dairy morphological type in Murciano-Granadina goats. Contrastingly, the consideration of animals presenting the GGAACCCC haplotypic sequence involves also considering animals that increase the genetic potential for all zoometric/linear appraisal traits, thus making them recommendable as breeding animals. The relevance of this study relies on the fact that the information derived from these analyses will enhance the selection of breeding individuals, in which a desirable dairy type is indirectly sought, through the haplotypic sequences in the ß casein locus, which is not currently routinely considered in the Murciano-Granadina goat breeding program.
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The aim of this study was to evaluate the effect of non-genetic factors on the variability of milk production and composition using Bayesian linear regression. We analyzed 2594 milk records from 159 dairy goats from the breeding nucleus of the Murciano-Granadina breed. Bayesian linear regression was used to determine the effects of non-genetic factors on the phenomics for quality-related milk nutrients and yield. Multivariate regression model significantly explained 21.5%, 40.0%, 41.5%, 44.3%, 44.6%, and 47.5% of the variability in somatic cell count (SCC, sc/mL), lactose (%), protein (%), milk yield (kg), fat (%), and dry matter (%), respectively. Although the aforementioned factor combination significantly conditions milk production and composition, SCC may be particularly affected by collateral factors. Milking routine and drying period factors are reference predictors to be considered in the evaluation of milk production and composition progression. Drying period extensions positively repercussed on milk yield and lactose content, but negatively affected fat, protein, dry matter contents, and somatic cell count. Variability across drying years may depend on the drying season rather than the drying month course, except for milk yield, for which an increasing trend was reported from winter to summer. Including drying period-related non-genetic factors in genetic evaluations improves the accuracy of the regression models and permits to boost the commercial possibilities and profitability of local breeds.
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Cabras , Leche , Femenino , Animales , Cabras/genética , Leche/metabolismo , Lactosa/metabolismo , Lactancia/genética , Fenómica , Proteínas de la Leche , Teorema de Bayes , NutrientesRESUMEN
Considering casein haplotype variants rather than SNPs may maximize the understanding of heritable mechanisms and their implication on the expression of functional traits related to milk production. Effects of casein complex haplotypes on milk yield, milk composition, and curve shape parameters were used using a Bayesian inference for ANOVA. We identified 48 single nucleotide polymorphisms (SNPs) present in the casein complex of 159 unrelated individuals of diverse ancestry, which were organized into 86 haplotypes. The Ali and Schaeffer model was chosen as the best fitting model for milk yield (Kg), protein, fat, dry matter, and lactose (%), while parabolic yield-density was chosen as the best fitting model for somatic cells count (SCC × 103 sc/mL). Peak and persistence for all traits were computed respectively. Statistically significant differences (p < 0.05) were found for milk yield and components. However, no significant difference was found for any curve shape parameter except for protein percentage peak. Those haplotypes for which higher milk yields were reported were the ones that had higher percentages for protein, fat, dry matter, and lactose, while the opposite trend was described by somatic cells counts. Conclusively, casein complex haplotypes can be considered in selection strategies for economically important traits in dairy goats.
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SPSS syntax was described to evaluate the individual performance of 49 linear and non-linear models to fit the milk component evolution curve of 159 Murciano-Granadina does selected for genotyping analyses. Peak and persistence for protein, fat, dry matter, lactose, and somatic cell counts were evaluated using 3107 controls (3.91 ± 2.01 average lactations/goat). Best-fit (adjusted R2) values (0.548, 0.374, 0.429, and 0.624 for protein, fat, dry matter, and lactose content, respectively) were reached by the five-parameter logarithmic model of Ali and Schaeffer (ALISCH), and for the three-parameter model of parabolic yield-density (PARYLDENS) for somatic cell counts (0.481). Cross-validation was performed using the Minimum Mean-Square Error (MMSE). Model comparison was performed using Residual Sum of Squares (RSS), Mean-Squared Prediction Error (MSPE), adjusted R2 and its standard deviation (SD), Akaike (AIC), corrected Akaike (AICc), and Bayesian information criteria (BIC). The adjusted R2 SD across individuals was around 0.2 for all models. Thirty-nine models successfully fitted the individual lactation curve for all components. Parametric and computational complexity promote variability-capturing properties, while model flexibility does not significantly (p > 0.05) improve the predictive and explanatory potential. Conclusively, ALISCH and PARYLDENS can be used to study goat milk composition genetic variability as trustable evaluation models to face future challenges of the goat dairy industry.
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Assessing dominance and additive effects of casein complex single-nucleotide polymorphisms (SNPs) (αS1, αS2, ß, and κ casein), and their epistatic relationships may maximize our knowledge on the genetic regulation of profitable traits. Contextually, new genomic selection perspectives may translate this higher efficiency into higher accuracies for milk yield and components' genetic parameters and breeding values. A total of 2594 lactation records were collected from 159 Murciano-Granadina goats (2005-2018), genotyped for 48 casein loci-located SNPs. Bonferroni-corrected nonparametric tests, categorical principal component analysis (CATPCA), and nonlinear canonical correlations were performed to quantify additive, dominance, and interSNP epistatic effects and evaluate the outcomes of their inclusion in quantitative and qualitative milk production traits' genetic models (yield, protein, fat, solids, and lactose contents and somatic cells count). Milk yield, lactose, and somatic cell count heritabilities increased considerably when the model including genetic effects was considered (0.46, 0.30, 0.43, respectively). Components standard prediction errors decreased, and accuracies and reliabilities increased when genetic effects were considered. Conclusively, including genetic effects and relationships among these heritable biomarkers may improve model efficiency, genetic parameters, and breeding values for milk yield and composition, optimizing selection practices profitability for components whose technological application may be especially relevant for the cheese-making dairy sector.
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Caseínas/genética , Epistasis Genética , Cabras/genética , Leche/química , Animales , Cruzamiento , Caseínas/química , Caseínas/clasificación , Genoma , Genómica , Lactancia/genética , Lactosa/genética , Proteínas de la Leche , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Goat milk casein proteins (αS1, αS2, ß and κ) are encoded by four loci (CSN1S1, CSN1S2, CSN2 and CSN3, respectively) clustered within 250 kb in chromosome 6. In this study, 159 Murciano-Granadina goats were genotyped for 48 SNPs within the entire casein region. Phenotypes on milk yield and components were obtained from 2,594 dairy registries. Additive and dominance effects on milk composition and quality were studied using non-parametric tests and principal component analysis to prevent SNPs multicollinearity. Two deletions in exon 4 (CSN1S1 and CSN3), one in exon 7 (CSN2) and one in exon 15 (CSN1S2) have been found at frequencies ranging from 0.12 to 0.50. Bonferroni-corrected significant SNP additive and dominance effects were found for milk yield, fat, protein, dry matter and lactose, and somatic cells. Exons 15 and 7 were significantly associated with milk yield and components except for lactose and somatic cells, while exon 4 was significantly associated with milk yield and components except for protein and dry matter. SNPs' associations with somatic cells were less frequent and weaker than those with milk yield and components. As caseins increase, somatic cells decrease, reducing milk enzymatic activity and consumption suitability. Hence, including molecular information in breeding schemes may promote production efficiency, as selecting against undesirable alleles could prevent the compromises derived from their dominance effects.
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Caseínas/genética , Leche/química , Polimorfismo de Nucleótido Simple , Alelos , Animales , Cruzamiento , Caseínas/metabolismo , Femenino , Frecuencia de los Genes , Genes Dominantes , Genotipo , Cabras , Fenotipo , Sitios de Carácter Cuantitativo , Estadísticas no ParamétricasRESUMEN
Sex determination is key to designing endangered poultry population conservation and breeding programs when sex distribution departs from Hardy-Weinberg equilibrium. A total of 112 Utrerana chickens (28 per variety, partridge, black, white, and franciscan) were selected for hatching day sexing. Sex assignation was performed through 10 methods. Three sex assignment criteria comprised criteria found in literature, opposite criteria to that in the literature, and composite criteria combining methods reporting the highest predictive success from the previous ones. This study aims to determine which method combinations may more successfully determine sex across the four varieties of Utrerana endangered hen breed to tailor noninvasive early specific models to determine sex in local chicken populations. Although the explanatory power of the three assignation criteria is equal (75%), assignation criteria 2 resulted to be the most efficient as it correctly assigns males more frequently. Only methods 3 (English method), 5 (general down feathers coloration), 7 (wing fan), and 10 (behavior/coping styles) reported significant differences regardless of the variety, hence, are appropriate for early sexing. Sex confirmation was performed at 1.5 months old. Identifying sex proportions enhances genetic management tasks in endangered populations, complementing more standardized techniques, which may result inefficient given the implicit diversity found in local populations.
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A total of 2090 lactation records for 710 Murciano-Granadina goats were collected during the years 2005-2016 and analyzed to investigate the influence of the αS1-CN genotype on milk yield and components (protein, fat, and dry matter). Goats were genetically evaluated, including and excluding the αS1-CN genotype, in order to assess its repercussion on the efficiency of breeding models. Despite no significant differences being found for milk yield, fat and dry matter heritabilities, protein production heritability considerably increased after aS1-CN genotype was included in the breeding model (+0.23). Standard errors suggest that the consideration of genotype may improve the model's efficiency, translating into more accurate genetic parameters and breeding values (PBV). Genetic correlations ranged from -0.15 to -0.01 between protein/dry matter and milk yield/protein and fat content, while phenotypic correlations were -0.02 for milk/protein and -0.01 for milk/fat or protein content. For males, the broadest range for reliability (RAP) (0.45-0.71) was similar to that of females (0.37-0.86) when the genotype was included. PBV ranges broadened while the maximum remained similar (0.61-0.77) for males and females (0.62-0.81) when the genotype was excluded, respectively. Including the αS1-CN genotype can increase production efficiency, milk profitability, milk yield, fat, protein and dry matter contents in Murciano-Granadina dairy breeding programs.
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RESUMEN La obesidad es un problema de salud pública, siendo especialmente importante entre mujeres jóvenes. El objetivo de este estudio fue comparar la vivencia corporal, los hábitos saludables y regulación emocional entre mujeres jóvenes chilenas con obesidad y normopeso. El estudio tuvo un enfoque cualitativo, de alcance exploratorio y diseño descriptivo-analítico. Para describir la muestra se usó el Multidimensional Body Self Relations Questionnaire (MBSRQ) que mide imagen corporal, el Dutch Eating Behavior Questionnaire (DEBQ) para evaluar ingesta emocional, y el Derogatis Symptom Checklist (SCL-90), que mide sintomatología psicológica. Se realizaron entrevistas en profundidad, que fueron analizadas utilizando codificación abierta de la Grounded Theory. Los resultados indican que ambos grupos presentan insatisfacción con la forma y peso de sus cuerpos, predominando en las participantes con obesidad al percibir limitaciones corporales. Las mujeres con obesidad describieron que regularon emociones negativas a través de la alimentación. Las participantes normopeso se caracterizaron por hábitos saludables, como actividad física y alimentación balanceada y en ambos grupos valorizan el cuidado del cuerpo y la estética personal, aunque sólo participantes normopeso presentaron conductas de cuidado efectivas.
ABSTRACT Obesity is a public health problem and is especially important among young women. The objective of this study was to compare the body experience, food habits and emotional regulation among young women with and without obesity. The study had a qualitative approach, was exploratory in scope and had a descriptive-analytical design. To describe the sample, the Multidimensional Body Self Relations Questionnaire (MBSRQ) was used to measure body image, the Dutch Eating Behavior Questionnaire (DEBQ) to assess emotional intake, and the Derogatis Symptom Checklist (SCL-90), which measures psychological symptoms. In-depth interviews were conducted, which were analyzed using Grounded Theory's open theory. The results indicated that both groups showed dissatisfaction with the shape and weight of their bodies, with women with obesity reporting perceived body limitations. Women with obesity reported regulating negative emotions through food. Non-obese participants reported healthy habits, such as physical activity and a balanced diet, and in both groups, body care and personal aesthetics were valued, although only non-obese participants reported effective care behaviors.
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Mujeres , Imagen Corporal/psicología , Peso Corporal Ideal , Estilo de Vida Saludable , ObesidadRESUMEN
HIV-associated neurocognitive disorders (HAND) include asymptomatic neurocognitive impairment (ANI), mild neurocognitive disorder (MND) and HIV-associated dementia. Early recognition of HAND is crucial, and usually requires thorough neuropsychological testing. Neurological soft signs (NSS), i.e. minor motor and sensory changes, a common feature in severe psychiatric disorders, may facilitate early diagnosis. NSS were examined using the Heidelberg NSS Scale in 18 patients with ANI, 21 with MND, 28 HIV positive patients without HAND, and 39 healthy controls matched for age, gender, and education. The highest NSS scores were obtained in the MND patients (13.3⯱â¯10.0, pâ¯<â¯0.0001) followed by those with ANI (11.7⯱â¯10.6), the HIV positive subjects without neurocognitive deficits (8.0⯱â¯4.1) and the healthy controls (3.8⯱â¯3.2). This result was confirmed when age and years of school education were entered as covariates. No significant correlations between NSS and CD4 counts or any other clinical variables were found among the HIV positive groups. Our results demonstrate that NSS are frequently found in both ANI and MND but not HIV positive patients without neurocognitive deficits. NSS may facilitate the screening of HIV positive patients for ANI and MND as an easier and less expensive clinical tool.
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Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/psicología , Infecciones por VIH/diagnóstico , Infecciones por VIH/psicología , Pruebas de Estado Mental y Demencia , Índice de Severidad de la Enfermedad , Complejo SIDA Demencia/diagnóstico , Complejo SIDA Demencia/epidemiología , Complejo SIDA Demencia/psicología , Adulto , Disfunción Cognitiva/epidemiología , Femenino , Infecciones por VIH/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Trastornos Neurocognitivos/diagnóstico , Trastornos Neurocognitivos/epidemiología , Trastornos Neurocognitivos/psicología , Pruebas NeuropsicológicasRESUMEN
Introducción: El acné es una dermatosis inflamatoria frecuente. Habitualmente requiere tratamientos sistémicos no exentos de riesgos. La terapia fotodinámica (TFD) ha demostrado efectividad en el tratamiento del acné. Material y método: estudio prospectivo, aleatorizado, y controlado, comparando la TFD con metil-aminolevulinato (MAL) al 16 por ciento con la aplicación de luz roja sola en el tratamiento del acné inflamatorio leve a moderado. Se aleatorizaron los pacientes a dos grupos; en el primer grupo se realizó TFD con luz roja, previa aplicación de crema de metil-aminolevulinato 16 por ciento (MAL), a las semanas 0 y 2. Resultados: se incluyeron 36 pacientes con acné inflamatorio leve y moderado localizado en región facial. Se determinaron los cambios de grados de acné existiendo diferencias significativas en los cambios de grado a las semanas 2, 4 y 10 (p<0.001), siendo mayor la mejoría clínica del acné en el grupo TFD-MAL comparado con el grupo luz roja sola, pero observable en ambos grupos. Discusión: la fototerapia con luz roja, con o sin fotosensibilizante, representa una opción de tratamiento no invasivo, seguro y eficaz para el acné vulgar. Al combinar la fototerapia con sustancias tópicas, por ejemplo MAL, resulta de una acción sinérgica aditiva.
Introduction: Acne is a frequent inflammatory dermatoses. It usually requires systemic treatments that are not free of adverse events. Photodynamic therapy (PDT) had been shown to be effective in acne. Methods: a prospective, randomized controlled trial was done to evaluate the effectiveness of PDT with methyl aminolevulinate (MAL) compared with red light alone. Patients were randomized in two groups. In the first group PDT-MAL was applied at week 0and 2; and in the second groupred light alone was applied. Results: 36 patients were incluided with facial acne. Effectiveness was evaluated at weeks 2, 4 and 10 for both groups. A statistically significant difference (p<0.001) was found favoring PDT-MAL group. Both groups showed and improvement in cane severity. Discussion: PDT-MAL and red light therapy are an effective and safe treatment option for acne. Combining PDT with MAL is more effective than red light alone.
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Humanos , Masculino , Adolescente , Adulto , Femenino , Ácido Aminolevulínico/administración & dosificación , Acné Vulgar/terapia , Fotoquimioterapia/métodos , Luz , Fármacos Fotosensibilizantes/administración & dosificación , Fototerapia , Estudios Prospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: In 1996 there was a massive lead poisoning in a southern rural community in Chile. The contamination source was a mill whose grinding stone was repaired with lead and contaminated the flour. AIM: To assess the presence of sequelae ten years later, among subjects that were exposed to lead on that occasion. MATERIAL AND METHODS: Cross sectional study of 77 individuals (47 males), aged 10 to 25 years, that were exposed to lead in 1996 and were treated with EDTA. RESULTS: Twenty one percent of subjects had a subnormal intelligence quotient (IQ). The risk of having a low IQ was significantly higher among those exposed before the age of six years. IQ was significantly lower among subjects that, immediately after the exposure, had a lead level over 48 microg/dl, compared with those that had a lead level below 43 microg/dl (86.7+/-7.3 and 93+/-11.6 respectively). No subjects with high blood pressure or evidences of nephrotoxicity were detected. CONCLUSIONS: Subjects aged less than six years at the moment of lead exposure had a lower IQ when assessed ten years later.