Genotype × region and genotype × production level interactions in Holstein cows.

The identification of the presence of genotype by environment interaction effects on important traits in Holstein cattle allows for the use of international genetic evaluations and a more efficient design of regional genetic evaluation programmes. The aim of this study was to determine the genotype × environment interaction effects in Chilean Holstein dairy cattle through the analysis of records corresponding to calvings between 1998 and 2015. Herds were classified in the central and southern regions of Chile based on herd location as well as by high and low levels of production environments based on the fat plus protein yield averages per herd within each region. The central region has a Mediterranean climate and a confined production system while the southern region has a humid temperate climate and a production system based on grazing with supplementation. Traits studied were milk yield (MY), fat yield (FY), protein yield (PY), fat content (FC) and protein content (PC) by lactation, age at first calving (AFC) and calving interval (CI). Several four-trait mixed animal models were applied to environmental category data as different traits, which included herd-year-calving season (herd-year-birth season for AFC) and lactation number as fixed effects, and animal additive genetic, sire-herd, permanent environment and residual effects as random effects. Genetic correlations (rg) for MY, FY, FC, PC and CI were found to decrease as differences between environmental categories increased. The rg between the most extreme environmental categories considered in this study for AFC (0.26) was the only one found statistically lower than 0.60. Genetic correlation values statistically lower than 0.80 (P < 0.05) were observed for AFC, CI, MY, FY and PY between some environmental categories. If separate genetic evaluations are adopted as practical criteria when the value of rg is lower than 0.60, the consequence of improving a multi-trait economic breeding objective in this population is likely to be small unless extreme environmental categories are considered. However, a moderate decrease in selection response and re-ranking of selection candidates is expected for AFC, CI and yield traits when selection is performed in different environmental conditions. Genotype × environment interaction effects involving production systems in a Mediterranean climate and confinement vs. Temperate Oceanic climate and grazing with supplementation, and between two fat plus protein yield level categories within each environment, were at most moderate for the studied traits.

Influence of vitamin D supplementation on the quality of life of asthma patients: Findings from ACVID randomised clinical trial.

Published data on vitamin D and the quality of life of asthma patients are scarce and disparate. The ACVID clinical trial, published in 2020, showed the efficacy of calcifediol in improving asthma control in asthma patients with vitamin D deficiency. Data on vitamin D and quality of life measured by the Mini-AQLQ questionnaire were analysed: supplemented patients showed improved quality of life compared with a placebo group, and the initial mini-AQLQ scores were improved for both groups.

Effect of calving age on genetic evaluation of milk yield in Holstein cattle.

The aim of this study was to evaluate the effect of including calving age (CA) on genetic evaluation models for Holstein cattle. The evaluated models included the permanent environment, the sire-herd interactions, and the animals and residual effects as random. The fixed effects included the average production of milk, fat, and protein and the herd-year-season effect. The analyzed data included 603,521 records of milk production (in kg) corresponding to 438,098 animals from 527 herds. Additionally, there were 179,122 records of fat and protein components, corresponding to 148,930 animals from 137 herds. The records were classified by first lactation only (FL) and all available lactations (AL) for validation test (VT). The FL records corresponded to 275,487 milk production records with a mean of 10,874.1 ± 2773.9 kg at a mean CA of 25.6 ± 4.2 months. For FL, the milk components consisted of 78,955 records with a mean fat production of 392.86 ± 89.9 kg, a mean protein production of 362.8 ± 74.9 kg and a mean CA of 25.2 ± 4.1 months. For AL, the number of records was 603,521 for milk production with a mean of 10,802.8 ± 2905.9 kg and a mean CA of 35.6 ± 11.5 months. For the milk components, there were 179,122 records with a mean of 36.1 ± 9.5 months for CA and 388.3 ± 98.4 kg and 356.7 ± 82.6 kg for fat and protein, respectively. Three models were compared: the base model (M0) described above, and two alternative models that included CA in a linear and quadratic form (M1 and M2, respectively). Estimations of the variance components (VC) and breeding value (BV) were obtained using a repeatability animal model, with the same phenotypic and pedigree information used for all models. To select the best fit model for the data, a likelihood ratio test (LRtest) was used. A validation test (VT) was also applied to each model to evaluate the consistency of the genetic trends for females with information on AL and FL. The inclusion of CA in its linear form (M1) was the model that achieved the best results in the LRtest and an acceptable value for the VT. These results show that CA improves the model fit for BV prediction and reliability.

Genome-Wide Association Studies for Methane Production in Dairy Cattle.

Genomic selection has been proposed for the mitigation of methane (CH4) emissions by cattle because there is considerable variability in CH4 emissions between individuals fed on the same diet. The genome-wide association study (GWAS) represents an important tool for the detection of candidate genes, haplotypes or single nucleotide polymorphisms (SNP) markers related to characteristics of economic interest. The present study included information for 280 cows in three dairy production systems in Mexico: 1) Dual Purpose (n = 100), 2) Specialized Tropical Dairy (n = 76), 3) Familiar Production System (n = 104). Concentrations of CH4 in a breath of individual cows at the time of milking (MEIm) were estimated through a system of infrared sensors. After quality control analyses, 21,958 SNPs were included. Associations of markers were made using a linear regression model, corrected with principal component analyses. In total, 46 SNPs were identified as significant for CH4 production. Several SNPs associated with CH4 production were found at regions previously described for quantitative trait loci of composition characteristics of meat, milk fatty acids and characteristics related to feed intake. It was concluded that the SNPs identified could be used in genomic selection programs in developing countries and combined with other datasets for global selection.

Pedigree verification and parentage assignment using genomic information in the Mexican Holstein population.

Genealogical information is an essential tool for carrying out any genetic improvement program. The objective of this study was to determine the accuracy of pedigree information in the Mexican registered Holstein population using genomic data available in Mexico and for the US Holstein population. The study included 7,508 animals (158 sires and 7,350 cows) that were born from 2002 through 2014, registered with Holstein de México, and genotyped with single nucleotide polymorphism arrays of different densities. Parentage could not be validated for 17% of sires of cows and 12% of sires of bulls. Most (79%) of the dams of cows and the dams of bulls had no genotype available and could not be validated. A parentage test was possible for only 6,104 sires of cows, 139 sires of bulls, 1,519 dams of cows, and 33 dams of bulls. Of the animals with a parentage test, parent assignment was confirmed for 89% of sires of cows, 92% of dams of cows, 95% of sires of bulls, and 97% of dams of bulls. Parent discovery was possible for some animals without confirmed parents: 17% for sires of cows, 2.5% for dams of cows, 43% for sires of bulls, and 0% for dams of bulls. Of the 7,795 progeny tests, 777 had parent conflicts, which is an error rate of 9.97% for parental recording in the population, a rate that is similar to those recently reported for other populations. True parents for some progeny conflicts (15%) were discovered for the Mexican population, and the remaining parents were assigned as unknown. Expected effects of misidentification on rate of genetic gain could be decreased by half if genealogical errors were decreased to 5%. This study indicates that genotyping and genealogy recovery may help in increasing rates of genetic improvement in the Mexican registered Holstein population.

Genomic variability in Mexican chicken population using copy number variants.

BACKGROUND: Copy number variations are genome polymorphism that influence phenotypic variation and are an important source of genetic variation in populations. The aim of this study was to investigate genetic variability in the Mexican Creole chicken population using CNVs. RESULTS: The Hidden Markov Model of the PennCNV software detected a total of 1924 CNVs in the genome of the 256 samples processed with Axiom® Genome-Wide Chicken Genotyping Array (Affymetrix). The mapped CNVs comprised 1538 gains and 386 losses, resulting at population level in 1216 CNV regions (CNVRs), of which 959 gains, 226 losses and 31 complex (i.e. containing both losses and gains). The CNVRs covered a total of 47 Mb of the whole genome sequence length, corresponding to 5.12% of the chicken galGal4 autosome assembly. CONCLUSIONS: This study allowed a deep insight into the structural variation in the genome of unselected Mexican chicken population, which up to now has not been genetically characterized. The genomic study disclosed that the population, even if presenting extreme morphological variation, cannot be organized in differentiated genetic subpopulations. Finally this study provides a chicken CNV map based on the 600 K SNP chip array jointly with a genome-wide gene copy number estimates in a native unselected for more than 500 years chicken population.

Genome-wide association study for milk somatic cell score in holstein cattle using copy number variation as markers.

Mastitis, the most common and expensive disease in dairy cows, implies significant losses in the dairy industry worldwide. Many efforts have been made to improve genetic mastitis resistance in dairy populations, but low heritability of this trait made this process not as effective as desired. The purpose of this study was to identify genomic regions explaining genetic variation of somatic cell count using copy number variations (CNVs) as markers in the Holstein population, genotyped with the Illumina BovineHD BeadChip. We found 24 and 47 copy number variation regions significantly associated with estimated breeding values for somatic cell score (SCS_EBVs) using SVS 8.3.1 and PennCNV-CNVRuler software, respectively. The association analysis performed with these two software allowed the identification of 18 candidate genes (TERT, NOTCH1, SLC6A3, CLPTM1L, PPARα, BCL-2, ABO, VAV2, CACNA1S, TRAF2, RELA, ELF3, DBH, CDK5, NF2, FASN, EWSR1 and MAP3K11) that result classified in the same functional cluster. These genes are also part of two gene networks, whose genes share the 'stress', 'cell death', 'inflammation' and 'immune response' GO terms. Combining CNV detection/association analysis based on two different algorithms helps towards a more complete identification of genes linked to phenotypic variation of the somatic cell count.

Genomic and genetic variability of six chicken populations using single nucleotide polymorphism and copy number variants as markers.

Genomic and genetic variation among six Italian chicken native breeds (Livornese, Mericanel della Brianza, Milanino, Bionda Piemontese, Bianca di Saluzzo and Siciliana) were studied using single nucleotide polymorphism (SNP) and copy number variants (CNV) as markers. A total of 94 DNA samples genotyped with Axiom® Genome-Wide Chicken Genotyping Array (Affymetrix) were used in the analyses. The results showed the genetic and genomic variability occurring among the six Italian chicken breeds. The genetic relationship among animals was established with a principal component analysis. The genetic diversity within breeds was calculated using heterozygosity values (expected and observed) and with Wright's F-statistics. The individual-based CNV calling, based on log R ratio and B-allele frequency values, was done by the Hidden-Markov Model (HMM) of PennCNV software on autosomes. A hierarchical agglomerative clustering was applied in each population according to the absence or presence of definite CNV regions (CNV were grouped by overlapping of at least 1 bp). The CNV map was built on a total of 1003 CNV found in individual samples, after grouping by overlaps, resulting in 564 unique CNV regions (344 gains, 213 losses and 7 complex), for a total of 9.43 Mb of sequence and 1.03% of the chicken assembly autosome. All the approaches using SNP data showed that the Siciliana breed clearly differentiate from other populations, the Livornese breed separates into two distinct groups according to the feather colour (i.e. white and black) and the Bionda Piemontese and Bianca di Saluzzo breeds are closely related. The genetic variability found using SNP is comparable with that found by other authors in the same breeds using microsatellite markers. The CNV markers analysis clearly confirmed the SNP results.

Effect of reference population size and available ancestor genotypes on imputation of Mexican Holstein genotypes.

The effects of reference population size and the availability of information from genotyped ancestors on the accuracy of imputation of single nucleotide polymorphisms (SNP) were investigated for Mexican Holstein cattle. Three scenarios for reference population size were examined: (1) a local population of 2,011 genotyped Mexican Holsteins, (2) animals in scenario 1 plus 866 Holsteins in the US genotype database (GDB) with genotyped Mexican daughters, and (3) animals in scenario 1 and all US GDB Holsteins (338,073). Genotypes from 4 chip densities (2 low density, 1 mid density, and 1 high density) were imputed using findhap (version 3) to the 45,195 markers on the mid-density chip. Imputation success was determined by comparing the numbers of SNP with 1 or 2 alleles missing and the numbers of differently predicted SNP (conflicts) among the 3 scenarios. Imputation accuracy improved as chip density and numbers of genotyped ancestors increased, and the percentage of SNP with 1 missing allele was greater than that for 2 missing alleles for all scenarios. The largest numbers of conflicts were found between scenarios 1 and 3. The inclusion of information from direct ancestors (dam or sire) with US GDB genotypes in the imputation of Mexican Holstein genotypes increased imputation accuracy by 1 percentage point for low-density genotypes and by 0.5 percentage points for high-density genotypes, which was about half the gain found with information from all US GDB Holsteins. A larger reference population and the availability of genotyped ancestors improved imputation; animals with genotyped parents in a large reference population had higher imputation accuracy than those with no or few genotyped relatives in a small reference population. For small local populations, including genotypes from other related populations can aid in improving imputation accuracy.

Genetic and environmental parameters for milk production, udder health, and fertility traits in Mexican Holstein cows.

Genetic and phenotypic parameters for Mexican Holstein cows were estimated for first- to third-parity cows with records from 1998 to 2003 (n=2,971-15,927) for 305-d mature equivalent milk production (MEM), fat production (MEF), and protein production (MEP), somatic cell score (SCS), subsequent calving interval (CAI), and age at first calving (AFC). Genetic parameters were obtained by average information matrix-REML methodology using 6-trait (first-parity data) and 5-trait (second- and third-parity data) animal models. Heritability estimates for production traits were between 0.17+/-0.02 and 0.23+/-0.02 for first- and second-parity cows and between 0.12+/-0.03 and 0.13+/-0.03 for third-parity cows. Heritability estimates for SCS were similar for all parities (0.10+/-0.02 to 0.11+/-0.03). For CAI, estimates of heritability were 0.01+/-0.05 for third-parity cows and 0.02+/-0.02 for second-parity cows. The heritability for AFC was moderate (0.28+/-0.03). No unfavorable estimates of correlations were found among MEM, MEF, MEP, CAI, and SCS. Estimates of environmental and phenotypic correlations were large and positive among production traits; favorable between SCS and CAI; slightly favorable between MEM, MEF, and MEP and SCS, between AFC and SCS, and between SCS and CAI; and small but unfavorable between production traits and CAI. Estimates of genetic variation and heritability indicate that selection would result in genetic improvement of production traits, AFC, and SCS. Estimates of both heritability and genetic variation for CAI were small, which indicates that genetic improvement would be difficult.

Selection response for milk production in conventional production systems in Mexico, using genetic evaluations of Holstein sires from Canada and the United States.

Polynomial regression models of the first, second, and third order were used to fit milk production deviations of daughters in Mexico on Canadian and US predicted transmitting ability values for 305-d mature-equivalent milk production (kg). For the pairs Canada-Mexico and Mexico-United States, 40 and 73 bulls with a minimum reliability of 0.75 were analyzed, respectively. Genetic correlations between pairs of countries were also estimated. The parameters were evaluated for all data, and for sires grouped according to the mean of the average phenotypic milk production (high and low) of their daughters' herd mates. Quadratic and cubic effects were not significant in any analysis. From linear regression models, slopes of Mexican daughter deviations on US and Canadian predicted transmitting abilities were 1.01 and 0.93, respectively. Slopes were greater but intercepts were smaller for the high versus low level of production of the sires' herd mates in Mexico. A greater difference between the genetic correlations was found for the high versus low environmental level than for the low level (0.79 vs. 0.70) for Mexico-US data compared with Canada-Mexico data (0.81 vs. 0.78). Genetic correlations between Mexico and the United States (0.74), and between Mexico and Canada (0.77), were smaller than the genetic correlation between the same Canadian and US sires (0.92), suggesting the presence of a moderate degree of genotype-environment interaction for milk production between Canada and the United States, and Mexico.

[Tuberculosis in the area of Lorca: to adapt or resist]. / Tuberculosis en la comarca de Lorca: adaptarse o resistir.

OBJECTIVE: We studied the epidemiological characteristic of tuberculosis in Lorca area, drug resistant and the effect of the immigration population (Ecuador) in this area. PATIENTS AND METHODS: A retrospective study for six years ago (1999, January to 2004, December) was realized. Epidemiological data, initial diagnostic probability, mycobacteria stain and cultive, drug resistance, treatment response, and epidemiological differences between immigrants and spain population were compared. RESULTS: Within 158 cases registered, 41.7 percent were immigrants with less than one year in Spain, the most part Ecuador population. We observed that extrapulmonar tuberculosis was lower initial diagnostic probability than pleural disease as well too haemoptisis, pleural pain and weight loss. It was identified positive micobacterial stain in 35.4 percent of respiratory samples. It was successfully results in 74 percent of cases and 13.9 percent of patients were lost, this result was frequently registered in immigrants, The isoniazide resistant in patients with not previous treatment was 5.3 percent and it was 9.5 percent in immigrants and 10.8 percent in Ecuador population. CONCLUSION: It is necessary improve: the diagnostic of extrapulmonar tuberculosis and avoid loss patient by programs of capture and then the successfully treatments raise. The isoniazide resistant in this area suggest that we must use initial four drug than tree and this manner not raise the drug resistant in the area.

Hemoptisis de repetición por aspiración bronquial de un cuerpo extraño: presentación de un caso y revisión de la literatura / Respeated hemoptysis for foreign body aspiration: presentation of one case and review of the literature

La aspiración bronquial de cuerpos extraños es más frecuente en niños. La etiología más usual son los cuerpos extraños de origen vegetal, que no se aprecian en una Rx simple de tórax. Las manifestaciones clínicas son variables, incluyendo la sensación de ahogo, tos y sibilancias. La hemoptisis es un síntoma infrecuente, relacionándose su aparición, generalmente, con la existencia de bronquiectasias. Presentamos el caso de un niño que presentó hemoptisis de repetición y neumonitis local por Eikenella corrodens tres años después de la aspiración de una espiga. Se llegó al diagnóstico de la broncoaspiración tras la expulsión del cuerpo extraño, días después de la realización de un lavado broncoalveolar. Lo inusual de este caso es la presentación clínica de hemoptisis de repetición, el largo periodo asintomático tratándose de un cuerpo extraño de origen vegetal y la neumonitis por Eikenella Corrodens asociada a la existencia de un cuerpo extraño intrabronquial (AU)

The foreign body aspiration is more frequent in children. The most usual etiology is the foreign bodies of vegetable nature, which can not be observed in the chest radiograph. The clinic signs are varied, including shortness of breath, cough and wheezing. Hemoptysis is a rare symptom, whose araising is generaly connected with the existence of bronchiectasis. We present the case of a child who showed repeated hemoptysis and focal neumonitis due to Eikenelle corrodens three years after the aspiration of a spike. The diagnosis of the bronchial aspiration obtained after The most unusual in this case is the clinic manifestation of repeated hemoptysis, together with the long connected to the existence of foreign body inside the bronchus (AU)

[Repeated hemoptysis for foreign body bronchial aspiration: presentation of a case and review of literature]. / Hemoptisis de repetición por aspiración bronquial de un cuerpo extraño: presentación de un caso y revisión de la literatura.

The foreign body aspiration is more frequent in children. The most usual etiology is the foreign bodies of vegetable nature, which can not be observed in the chest radiograph. The clinic signs are varied, including shortness of breath, cough and wheezing. Hemoptysis is a rare symptom, whose arising is generally connected with the existence of bronchiectasis. We present the case of a child who showed repeated hemoptysis and focal neumonitis due to Eikenelle corrodens three years after the aspiration of a spike. The diagnosis of the bronchial aspiration obtained after The most unusual in this case is the clinic manifestation of repeated hemoptysis, together with the long connected to the existence of foreign body inside the bronchus.

[Listeria monocytogenes pneumonia: a severe complication in a patient with neoplasia]. / Neumonía por Listeria monocytogenes: una severa complicación del paciente neoplásico.

Listeriosis is a infectious disease which can affect to immunosuppressed patients. We report a case of pneumonia by Listeria monocytogenes as unusual presentation, because the central nervous system infections are the most common clinical entities. Many cases reported had a underlying disease, most commonly Hodgkin's disease, and had received immunosuppressive therapy. In our case the patient was considered to be immunosuppressed by had received corticosteroids and had been diagnosed of stage IIIa squamous cell carcinoma 3 years ago. The illness began 48 hours before the admission to hospital, he had fever, mental confusion and the location of pneumonia was right lower lobe, 24 hours later the patient die.