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1.
Genet Sel Evol ; 56(1): 2, 2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-38172652

RESUMO

BACKGROUND: The presence of goats in the Canary Islands dates back to the late 1st millennium BC, which coincides with the colonization by the Amazigh settlers. However, the exact geographic origin of Canarian goats is uncertain since the Amazigh peoples were distributed over a wide spatial range. Nowadays, three Canarian breeds (Palmera, Majorera and Tinerfeña) are officially recognized, along with two distinct South and North Tinerfeña ecotypes, with the South Tinerfeña and Majorera goats thriving in arid and dry semi-desertic environments and the Palmera and North Tinerfeña goats are adapted to humid and temperate areas that are influenced by trade winds. Genotypes for 224 Canarian goats were generated using the Illumina Goat single nucleotide polymorphism (SNP)50 BeadChip. By merging these data with the genotypes from 1007 individuals of African and Southern European ancestry, our aim was to ascertain the geographic origin of the Canarian goats and identify genes associated with adaptation to diverse environmental conditions. RESULTS: The diversity indices of the Canarian breeds align with most of those of the analyzed local breeds from Africa and Europe, except for the Palmera goats that showed lower levels of genetic variation. The Canarian breeds demonstrate a significant genetic differentiation compared to other populations, which indicates a history of prolonged geographic isolation. Moreover, the phylogenetic reconstruction indicated that the ancestry of the Canarian goats is fundamentally North African rather than West African. The ADMIXTURE and the TreeMix analyses showed no evidence of gene flow between Canarian goats and other continental breeds. The analysis of runs of homozygosity (ROH) identified 13 ROH islands while the window-based FST method detected 25 genomic regions under selection. Major signals of selection were found on Capra hircus (CHI) chromosomes 6, 7, and 10 using various comparisons and methods. CONCLUSIONS: This genome-wide analysis sheds new light on the evolutionary history of the four breeds that inhabit the Canary Islands. Our findings suggest a North African origin of the Canarian goats. In addition, within the genomic regions highlighted by the ROH and FST approaches, several genes related to body size and heat tolerance were identified.


Assuntos
Cabras , Polimorfismo de Nucleotídeo Único , Animais , Genótipo , Cabras/genética , Filogenia
2.
Anim Genet ; 55(2): 257-264, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38131417

RESUMO

Milk yield and composition phenotypes are systematically recorded across several lactations in goats, but the majority of genome-wide association studies (GWAS) performed so far have rather ignored the longitudinal nature of such data. Here, we have used two different GWAS approaches to analyse data from three lactations recorded in Murciano-Granadina goats. In Analysis 1, independent GWAS have been carried out for each trait and lactation, while a single longitudinal GWAS, jointly considering all data, has been performed in Analysis 2. In both analyses, genome-wide significant QTL for lactose percentage on chromosome 2 (129.77-131.01 Mb) and for milk protein percentage on the chromosome 6 (74.8-94.6 Mb) casein gene cluster region were detected. In Analysis 1, several QTL were not replicated in all three lactations, possibly due to the existence of lactation-specific genetic determinants. In Analysis 2, we identified several genome-wide significant QTL related to milk yield and protein content that were not uncovered in Analysis 1. The increased number of QTL identified in Analysis 2 suggests that the longitudinal GWAS is particularly well suited for the genetic analysis of dairy traits. Moreover, our data confirm that variability within or close to the casein complex is the main genetic determinant of milk protein percentage in Murciano-Granadina goats.


Assuntos
Caseínas , Estudo de Associação Genômica Ampla , Feminino , Animais , Estudo de Associação Genômica Ampla/veterinária , Caseínas/genética , Cabras/genética , Lactação/genética , Fenótipo , Proteínas do Leite/genética
3.
Rev Esp Enferm Dig ; 2024 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-38205705

RESUMO

Within pancreatic cysts, the lymphoepithelial variant is considered a highly atypical condition with few reported cases in the literature. Following a case managed in our hospital, we aim to shed more light on this entity as an incidental finding, providing a temporal description until its excision, along with radiological, surgical, and histological images.

4.
Genet Sel Evol ; 55(1): 24, 2023 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-37013467

RESUMO

BACKGROUND: To enhance and extend the knowledge about the global historical and phylogenetic relationships between Merino and Merino-derived breeds, 19 populations were genotyped with the OvineSNP50 BeadChip specifically for this study, while an additional 23 populations from the publicly available genotypes were retrieved. Three complementary statistical tests, Rsb (extended haplotype homozygosity between-populations), XP-EHH (cross-population extended haplotype homozygosity), and runs of homozygosity (ROH) islands were applied to identify genomic variants with potential impact on the adaptability of Merino genetic type in two contrasting climate zones. RESULTS: The results indicate that a large part of the Merino's genetic relatedness and admixture patterns are explained by their genetic background and/or geographic origin, followed by local admixture. Multi-dimensional scaling, Neighbor-Net, Admixture, and TREEMIX analyses consistently provided evidence of the role of Australian, Rambouillet and German strains in the extensive gene introgression into the other Merino and Merino-derived breeds. The close relationship between Iberian Merinos and other South-western European breeds is consistent with the Iberian origin of the Merino genetic type, with traces from previous contributions of other Mediterranean stocks. Using Rsb and XP-EHH approaches, signatures of selection were detected spanning four genomic regions located on Ovis aries chromosomes (OAR) 1, 6 and 16, whereas two genomic regions on OAR6, that partially overlapped with the previous ones, were highlighted by ROH islands. Overall, the three approaches identified 106 candidate genes putatively under selection. Among them, genes related to immune response were identified via the gene interaction network. In addition, several candidate genes were found, such as LEKR1, LCORL, GHR, RBPJ, BMPR1B, PPARGC1A, and PRKAA1, related to morphological, growth and reproductive traits, adaptive thermogenesis, and hypoxia responses. CONCLUSIONS: To the best of our knowledge, this is the first comprehensive dataset that includes most of the Merino and Merino-derived sheep breeds raised in different regions of the world. The results provide an in-depth picture of the genetic makeup of the current Merino and Merino-derived breeds, highlighting the possible selection pressures associated with the combined effect of anthropic and environmental factors. The study underlines the importance of Merino genetic types as invaluable resources of possible adaptive diversity in the context of the occurring climate changes.


Assuntos
Variação Genética , Carneiro Doméstico , Ovinos/genética , Animais , Carneiro Doméstico/genética , Filogenia , Austrália , Genótipo , Polimorfismo de Nucleotídeo Único
5.
Anim Genet ; 54(4): 491-499, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37127297

RESUMO

Hematological traits are important indicators of health status, and they are frequently used as criteria for clinical diagnosis. In humans, the genomic architecture of blood traits has been investigated in depth and thousands of associations with genetic variants have been found. In contrast, the association between marker genotypes and the variation of hematological traits has not been investigated in goats yet. Herewith, we have recorded 12 hematological parameters in 882 Murciano-Granadina goats that were also genotyped with the Goat SNP50 BeadChip (Illumina). Performance of a univariate genome-wide association study (GWAS) made it possible to detect one genomic region on goat chromosome (CHI) 21 (19.2-19.5 Mb) associated, at the genome-wide level of significance, with 4 red blood cell traits. The three markers displaying the highest significances were rs268272996 (CHI21: 19225290 bp), rs268273004 (CHI21: 19565629 bp) and rs268239059 (CHI13: 9615190 bp). Consistently, a multivariate GWAS indicated that the rs268273004 marker on chromosome 21 is associated with seven blood cell traits. Interestingly, this marker maps close to the FA Complementation Group I (FANCI) gene (CHI21: 20021947-20077025 bp), which is functionally related to Fanconi anemia, a syndrome characterized by bone marrow failure, aplastic anemia, and congenital disorders. We have also uncovered additional chromosome-wide significant associations between genetic markers and erythrocyte and leukocyte traits in the univariate GWAS. These findings evidence that the phenotypic variation of hematological traits in goats is regulated, at least to some extent, by polygenic determinants distributed in multiple chromosomes.


Assuntos
Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Humanos , Animais , Estudo de Associação Genômica Ampla/veterinária , Cabras/genética , Fenótipo , Genótipo
6.
Int J Mol Sci ; 24(22)2023 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-38003373

RESUMO

The era of increasing bacterial antibiotic resistance requires new approaches to fight infections. With this purpose, silver-based nanomaterials are a reality in some fields and promise new developments. We report the green synthesis of silver nanoparticles (AgNPs) using culture broths from a microalga. Broths from two media, with different compositions and pHs and sampled at two growth phases, produced eight AgNP types. Nanoparticles harvested after several synthesis periods showed differences in antibacterial activity and stability. Moreover, an evaluation of the broths for several consecutive syntheses did not find relevant kinetics or activity differences until the third round. Physicochemical characteristics of the AgNPs (core and hydrodynamic sizes, Z-potential, crystallinity, and corona composition) were determined, observing differences depending on the broths used. AgNPs showed good antibacterial activity at concentrations producing no or low cytotoxicity on cultured eukaryotic cells. All the AgNPs had high levels of synergy against Escherichia coli and Staphylococcus aureus with the classic antibiotics streptomycin and kanamycin, but with ampicillin only against S. aureus and tetracycline against E. coli. Differences in the synergy levels were also dependent on the types of AgNPs. We also found that, for some AgNPs, the killing of bacteria started before the massive accumulation of ROS.


Assuntos
Nanopartículas Metálicas , Microalgas , Antibacterianos/química , Staphylococcus aureus , Espécies Reativas de Oxigênio , Prata/farmacologia , Prata/química , Nanopartículas Metálicas/química , Escherichia coli , Bactérias , Testes de Sensibilidade Microbiana
7.
Mol Ecol ; 31(16): 4364-4380, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35751552

RESUMO

By their paternal transmission, Y-chromosomal haplotypes are sensitive markers of population history and male-mediated introgression. Previous studies identified biallelic single-nucleotide variants in the SRY, ZFY and DDX3Y genes, which in domestic goats identified four major Y-chromosomal haplotypes, Y1A, Y1B, Y2A and Y2B, with a marked geographical partitioning. Here, we extracted goat Y-chromosomal variants from whole-genome sequences of 386 domestic goats (75 breeds) and seven wild goat species, which were generated by the VarGoats goat genome project. Phylogenetic analyses indicated domestic haplogroups corresponding to Y1B, Y2A and Y2B, respectively, whereas Y1A is split into Y1AA and Y1AB. All five haplogroups were detected in 26 ancient DNA samples from southeast Europe or Asia. Haplotypes from present-day bezoars are not shared with domestic goats and are attached to deep nodes of the trees and networks. Haplogroup distributions for 186 domestic breeds indicate ancient paternal population bottlenecks and expansions during migrations into northern Europe, eastern and southern Asia, and Africa south of the Sahara. In addition, sharing of haplogroups indicates male-mediated introgressions, most notably an early gene flow from Asian goats into Madagascar and the crossbreeding that in the 19th century resulted in the popular Boer and Anglo-Nubian breeds. More recent introgressions are those from European goats into the native Korean goat population and from Boer goat into Uganda, Kenya, Tanzania, Malawi and Zimbabwe. This study illustrates the power of the Y-chromosomal variants for reconstructing the history of domestic species with a wide geographical range.


Assuntos
DNA Mitocondrial , Variação Genética , Animais , DNA Mitocondrial/genética , Cabras/genética , Haplótipos/genética , Filogenia , Cromossomo Y/genética
8.
Ann Vasc Surg ; 87: 548-559, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36029951

RESUMO

BACKGROUND: Marfan syndrome (MS) most often shows as thoracic aortic aneurysm (TAA) or aortic dissection, but it may also involve other vascular territories. This study aimed to identify those extrathoracic vascular manifestations most frequently associated with MS. METHODS: A systematic review of the literature with Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria was carried out. The following databases were included: MEDLINE, Embase, Web of Science, Cumulative Index of Nursing and Health Sciences Literature (CINHAL); Spanish database MEDESY Cochrane Central Register of Controlled Trials (CENTRAL). RESULTS: A total of 10,008 articles were identified, leaving 155 for the first stage of data analysis (total incidence of aneurysms) and 83 for the second (descriptive data analysis). Overall, 518 aneurysms were identified: 149 in the head and neck, 94 in the extremities, and 275 in the aortic, iliac, and visceral sectors. Mostly, they were simultaneously discovered during studies of the TAA. In the abdominal aorta, the presentation with rupture in 11 of 32 patients stands out. Resection and bypass were the most frequently used methods for repair in the treated cases. CONCLUSIONS: Although its frequency in the general population is unknown, this systematic review suggests that extrathoracic aneurysmal arterial involvement in the MS may be more frequent than expected. We believe screening for aneurysms in other vascular sectors may be advisable, especially in patients with MS and TAA.


Assuntos
Aneurisma da Aorta Abdominal , Aneurisma da Aorta Torácica , Dissecção Aórtica , Síndrome de Marfan , Humanos , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/epidemiologia , Resultado do Tratamento , Aneurisma da Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/epidemiologia , Aneurisma da Aorta Torácica/etiologia , Dissecção Aórtica/diagnóstico por imagem , Dissecção Aórtica/epidemiologia , Dissecção Aórtica/etiologia , Aorta Abdominal/cirurgia , Aneurisma da Aorta Abdominal/cirurgia
9.
Molecules ; 27(21)2022 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-36364415

RESUMO

Bacterial resistance to antibiotics is on the rise and hinders the fight against bacterial infections, which are expected to cause millions of deaths by 2050. New antibiotics are difficult to find, so alternatives are needed. One could be metal-based drugs, such as silver nanoparticles (AgNPs). In general, chemical methods for AgNPs' production are potentially toxic, and the physical ones expensive, while green approaches are not. In this paper, we present the green synthesis of AgNPs using two Pseudomonas alloputida B003 UAM culture broths, sampled from their exponential and stationary growth phases. AgNPs were physicochemically characterized by transmission electron microscopy (TEM), total reflection X-ray fluorescence (TXRF), infrared spectroscopy (FTIR), dynamic light scattering (DLS), and X-ray diffraction (XRD), showing differential characteristics depending on the synthesis method used. Antibacterial activity was tested in three assays, and we compared the growth and biofilm-formation inhibition of six test bacteria: Bacillus subtilis, Escherichia coli, Klebsiella pneumoniae, Pseudomonas aeruginosa, Staphylococcus aureus, and Staphylococcus epidermidis. We also monitored nanoparticles' synergic behavior through the growth inhibition of E. coli and S. aureus by three classical antibiotics: ampicillin, nalidixic acid, and streptomycin. The results indicate that very good AgNP activity was obtained with particularly low MICs for the three tested strains of P. aeruginosa. A good synergistic effect on streptomycin activity was observed for all the nanoparticles. For ampicillin, a synergic effect was detected only against S. aureus. ROS production was found to be related to the AgNPs' antibacterial activity.


Assuntos
Antibacterianos , Nanopartículas Metálicas , Antibacterianos/química , Prata/farmacologia , Prata/química , Staphylococcus aureus , Nanopartículas Metálicas/química , Escherichia coli , Testes de Sensibilidade Microbiana , Pseudomonas aeruginosa , Bacillus subtilis , Biofilmes , Ampicilina/farmacologia , Estreptomicina/farmacologia , Extratos Vegetais/química
10.
Anim Genet ; 52(5): 779-781, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34189737

RESUMO

Transmission ratio distortion (TRD) is the preferential transmission of one specific allele to offspring at the expense of the other. The existence of TRD is mostly explained by the segregation of genetic variants with deleterious effects on the developmental processes that go from the formation of gametes to fecundation and birth. A few years ago, a statistical methodology was implemented in order to detect TRD signals on a genome-wide scale as a first step toward uncovering the biological basis of TRD and reproductive success in domestic species. In the current work, we have analyzed the impact of SNP calling quality on the detection of TRD signals in a population of Murciano-Granadina goats. Seventeen bucks and their offspring (N = 288) were typed with the Goat SNP50 BeadChip, whereas the genotypes of the dams were lacking. Performance of a genome-wide scan revealed the existence of 36 SNPs showing significant evidence of TRD. When we calculated GenTrain scores for each of the SNPs, we observed that 25 SNPs showed scores below 0.8. The allele frequencies of these SNPs in the offspring were not correlated with the allele frequencies estimated in the dams with statistical methods, providing evidence that flawed SNP calling quality might lead to the detection of spurious TRD signals. We conclude that, when performing TRD scans, the GenTrain scores of markers should be taken into account to discriminate SNPs that are truly under TRD from those yielding spurious signals owing to technical problems.


Assuntos
Cabras/genética , Padrões de Herança , Modelos Genéticos , Alelos , Animais , Frequência do Gene , Marcadores Genéticos , Genótipo , Polimorfismo de Nucleotídeo Único
11.
Genet Sel Evol ; 52(1): 44, 2020 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-32770942

RESUMO

BACKGROUND: In this work, our aim was to generate a map of the copy number variations (CNV) segregating in a population of Murciano-Granadina goats, the most important dairy breed in Spain, and to ascertain the main biological functions of the genes that map to copy number variable regions. RESULTS: Using a dataset that comprised 1036 Murciano-Granadina goats genotyped with the Goat SNP50 BeadChip, we were able to detect 4617 and 7750 autosomal CNV with the PennCNV and QuantiSNP software, respectively. By applying the EnsembleCNV algorithm, these CNV were assembled into 1461 CNV regions (CNVR), of which 486 (33.3% of the total CNVR count) were consistently called by PennCNV and QuantiSNP and used in subsequent analyses. In this set of 486 CNVR, we identified 78 gain, 353 loss and 55 gain/loss events. The total length of all the CNVR (95.69 Mb) represented 3.9% of the goat autosomal genome (2466.19 Mb), whereas their size ranged from 2.0 kb to 11.1 Mb, with an average size of 196.89 kb. Functional annotation of the genes that overlapped with the CNVR revealed an enrichment of pathways related with olfactory transduction (fold-enrichment = 2.33, q-value = 1.61 × 10-10), ABC transporters (fold-enrichment = 5.27, q-value = 4.27 × 10-04) and bile secretion (fold-enrichment = 3.90, q-value = 5.70 × 10-03). CONCLUSIONS: A previous study reported that the average number of CNVR per goat breed was ~ 20 (978 CNVR/50 breeds), which is much smaller than the number we found here (486 CNVR). We attribute this difference to the fact that the previous study included multiple caprine breeds that were represented by small to moderate numbers of individuals. Given the low frequencies of CNV (in our study, the average frequency of CNV is 1.44%), such a design would probably underestimate the levels of the diversity of CNV at the within-breed level. We also observed that functions related with sensory perception, metabolism and embryo development are overrepresented in the set of genes that overlapped with CNV, and that these loci often belong to large multigene families with tens, hundreds or thousands of paralogous members, a feature that could favor the occurrence of duplications or deletions by non-allelic homologous recombination.


Assuntos
Variações do Número de Cópias de DNA , Genoma , Cabras/genética , Animais , Polimorfismo de Nucleotídeo Único
12.
J Dairy Sci ; 103(12): 11605-11617, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33069406

RESUMO

Morphological traits are of great importance to dairy goat production given their effect on phenotypes of economic interest. However, their underlying genomic architecture has not yet been extensively characterized. Herein, we aimed to identify genomic regions associated with body, udder, and leg conformation traits recorded in 825 Murciano-Granadina goats. We genotyped this resource population using the GoatSNP50 BeadChip (Illumina Inc., San Diego, CA) and performed genome-wide association analyses using the GEMMA software. We found 2 genome-wide significant associations between markers rs268273468 [Capra hircus (CHI) 16:69617700] and rs268249346 (CHI 28:18321523) and medial suspensory ligament. In contrast, we did not detect any genome-wide significant associations for body and leg traits. Moreover, we found 12, 19, and 7 chromosome-wide significant associations for udder, body, and leg traits, respectively. Comparison of our data with previous studies revealed a low level of positional concordance between regions associated with morphological traits. In addition to technical factors, this lack of concordance could be due to a substantial level of genetic heterogeneity among breeds or to the strong polygenic background of morphological traits, which makes it difficult to detect genetic factors that have small phenotypic effects.


Assuntos
Estudo de Associação Genômica Ampla/veterinária , Cabras/genética , Glândulas Mamárias Animais/anatomia & histologia , Animais , Pesos e Medidas Corporais/veterinária , Extremidades/anatomia & histologia , Feminino , Genótipo , Cabras/anatomia & histologia , Fenótipo , Polimorfismo de Nucleotídeo Único
13.
Mol Ecol ; 28(5): 1009-1029, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30593690

RESUMO

Domestic species such as cattle (Bos taurus taurus and B. t. indicus) represent attractive biological models to characterize the genetic basis of short-term evolutionary response to climate pressure induced by their post-domestication history. Here, using newly generated dense SNP genotyping data, we assessed the structuring of genetic diversity of 21 autochtonous cattle breeds from the whole Mediterranean basin and performed genome-wide association analyses with covariables discriminating the different Mediterranean climate subtypes. This provided insights into both the demographic and adaptive histories of Mediterranean cattle. In particular, a detailed functional annotation of genes surrounding variants associated with climate variations highlighted several biological functions involved in Mediterranean climate adaptation such as thermotolerance, UV protection, pathogen resistance or metabolism with strong candidate genes identified (e.g., NDUFB3, FBN1, METTL3, LEF1, ANTXR2 and TCF7). Accordingly, our results suggest that main selective pressures affecting cattle in Mediterranean area may have been related to variation in heat and UV exposure, in food resources availability and in exposure to pathogens, such as anthrax bacteria (Bacillus anthracis). Furthermore, the observed contribution of the three main bovine ancestries (indicine, European and African taurine) in these different populations suggested that adaptation to local climate conditions may have either relied on standing genomic variation of taurine origin, or adaptive introgression from indicine origin, depending on the local breed origins. Taken together, our results highlight the genetic uniqueness of local Mediterranean cattle breeds and strongly support conservation of these populations.


Assuntos
Aclimatação/genética , Variação Genética , Genômica , Animais , Cruzamento , Bovinos , Mapeamento Cromossômico , Clima , Genética Populacional , Genoma , Genótipo , Filogenia , Termotolerância/genética
15.
Echocardiography ; 34(8): 1122-1129, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28589566

RESUMO

AIMS: To evaluate how often patients with moderate-to-severe or severe mitral regurgitation (MR) meet the anatomical criteria for MitraClip implant and to examine the role of transthoracic echocardiography (TTE) for this task. METHODS AND RESULTS: From February to June 2015, all patients undergoing a TTE in nine Spanish hospitals were prospectively included. Patients with moderate-to-severe and severe mitral regurgitation were selected for analysis. Anatomical eligibility criteria for MitraClip were defined according to the EVEREST trial. A total of 39 855 consecutive TTE were reviewed, and 1403 patients with moderate-to-severe and severe MR were finally included. Primary MR was found in 779 patients (56%). Only in 74 patients (16%), all anatomical criteria for MitraClip could be assessed by TTE. Of these, 56% of patients had optimal valve morphology. Secondary MR was described in 361 patients (26%), and at least 249 of these (69%) had a high surgical risk. All five criteria for MitraClip were adequately assessed by TTE in 299 patients (83%). Of them, 118 patients (39%) had optimal valve morphology. CONCLUSIONS: A considerable proportion of patients have optimal mitral valve morphology for MitraClip. Moreover, TTE was particularly useful in determining whether or not the anatomical criteria for MitraClip implant were met in the majority of patients with secondary MR but in only a minority of those with primary MR.


Assuntos
Ecocardiografia Transesofagiana/métodos , Próteses Valvulares Cardíacas , Insuficiência da Valva Mitral/diagnóstico , Valva Mitral/diagnóstico por imagem , Idoso , Feminino , Seguimentos , Humanos , Masculino , Valva Mitral/cirurgia , Insuficiência da Valva Mitral/epidemiologia , Insuficiência da Valva Mitral/cirurgia , Prevalência , Estudos Prospectivos , Desenho de Prótese , Índice de Gravidade de Doença , Espanha/epidemiologia
16.
Genet Sel Evol ; 48(1): 52, 2016 07 25.
Artigo em Inglês | MEDLINE | ID: mdl-27455838

RESUMO

BACKGROUND: The main goal of the current work was to infer the demographic history of seven Spanish goat breeds (Malagueña, Murciano-Granadina, Florida, Palmera, Mallorquina, Bermeya and Blanca de Rasquera) based on genome-wide diversity data generated with the Illumina Goat SNP50 BeadChip (population size, N = 176). Five additional populations from Europe (Saanen and Carpathian) and Africa (Tunisian, Djallonké and Sahel) were also included in this analysis (N = 80) for comparative purposes. RESULTS: Our results show that the genetic background of Spanish goats traces back mainly to European breeds although signs of North African admixture were detected in two Andalusian breeds (Malagueña and Murciano-Granadina). In general, observed and expected heterozygosities were quite similar across the seven Spanish goat breeds under analysis irrespective of their population size and conservation status. For the Mallorquina and Blanca de Rasquera breeds, which have suffered strong population declines during the past decades, we observed increased frequencies of large-sized (ROH), a finding that is consistent with recent inbreeding. In contrast, a substantial part of the genome of the Palmera goat breed comprised short ROH, which suggests a strong and ancient founder effect. CONCLUSIONS: Admixture with African goats, genetic drift and inbreeding have had different effects across the seven Spanish goat breeds analysed in the current work. This has generated distinct patterns of genome-wide diversity that provide new clues about the demographic history of these populations.


Assuntos
Cruzamento , Variação Genética , Genética Populacional , Cabras/genética , África do Norte , Animais , Europa (Continente) , Deriva Genética , Genômica , Genótipo , Heterozigoto , Endogamia , Densidade Demográfica , Espanha
17.
J Heart Valve Dis ; 25(6): 724-729, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-28290172

RESUMO

BACKGROUND AND AIM OF THE STUDY: Although mitral regurgitation (MR) is a well-recognized prognosis factor, its true prevalence is probably underestimated and its etiology and mechanisms have not been sufficiently explored. The study aim was to evaluate the burden of MR, focusing attention on its frequency, severity, etiology, mechanism, and other associated conditions. METHODS: Between February and June 2015, a total of 39,855 consecutive echocardiographic studies was performed at nine tertiary hospitals, and were prospectively included in the study. MR severity was graded into four groups, ranging from none or trace to severe MR, in accordance with the recommendations of the European Association of Cardiovascular Imaging. Patients with moderate to severe MR were selected for the analysis. RESULTS: MR was detected in 22.6% of cases. MR severity was mild in 82.5% of patients (n = 7,376), moderate in 11.7% (n = 1,048), and severe in 5.8% (n = 521). Concomitant valvular heart disease was present in 3,544 patients (39.7%), with tricuspid regurgitation the most frequently encountered (21.6%). Among moderate and severe MR, primary MR was more frequent than secondary MR (58.8% versus 23.5%), with degenerative valve disease being the most common cause of primary MR (49.2%). A third group composed of mixed forms of MR was described in 17.8% of cases. CONCLUSIONS: MR is a common finding on echocardiography, and is frequently associated with other valvular heart disease. Most MRs are of degenerative origin. The primary and secondary forms of MR differ significantly in their clinical presentation with regard to gender, age, and ventricular function. There appears to be a gap for a 'mixed' group, though further studies are needed to confirm this suggestion.


Assuntos
Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/etiologia , Idoso , Ecocardiografia , Feminino , Doenças das Valvas Cardíacas/complicações , Humanos , Masculino , Insuficiência da Valva Mitral/complicações , Insuficiência da Valva Mitral/epidemiologia , Prevalência , Estudos Prospectivos , Índice de Gravidade de Doença
18.
Genet Sel Evol ; 47: 86, 2015 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-26542127

RESUMO

BACKGROUND: Portugal and Spain, with six and 22 officially recognized caprine breeds, encompass 25 % of the European Union goat census. Many of these populations have suffered strong demographic declines because of competition with exotic breeds and the phasing-out of low income rural activities. In this study, we have investigated the consequences of these and other demographic processes on the genetic diversity, population structure and inbreeding levels of Iberian and Atlantic goats. METHODS: A sample of 975 individuals representing 25 officially recognized breeds from Portugal and Spain, two small populations not officially recognized (Formentera and Ajuí goats) and two ecotypes of the Tinerfeña and Blanca Celtibérica breeds were genotyped with a panel of 20 microsatellite markers. A wide array of population genetics methods was applied to make inferences about the genetic relationships and demography of these caprine populations. RESULTS: Genetic differentiation among Portuguese and Spanish breeds was weak but significant (FST = 0.07; P < 0.001), which is probably the consequence of their short splitting times and extensive gene flow due to transhumance. In contrast, Canarian goats were strongly differentiated because of prolonged geographic isolation. Most populations displayed considerable levels of diversity (mean He = 0.65). CONCLUSIONS: High diversity levels and weak population structures are distinctive features of Portuguese and Spanish breeds. In general, these local breeds have a reduced census, but are still important reservoirs of genetic diversity. These findings reinforce the need for the implementation of management and breeding programs based on genetic data in order to minimize inbreeding, maintain overall genetic and allelic diversities and breed identities, while at the same time taking into account the within-breed genetic structure.


Assuntos
Biodiversidade , Cabras , Alelos , Animais , Cruzamento , Análise por Conglomerados , Europa (Continente) , Variação Genética , Genética Populacional , Genótipo , Cabras/genética , Repetições de Microssatélites , Portugal , Espanha
19.
J Psychiatr Res ; 174: 73-83, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38626564

RESUMO

BACKGROUND: Eye Movement Desensitization and Reprocessing (EMDR) is a well-established psychological therapy for the treatment of post-traumatic stress disorder, based on the recommendations of clinical practice guidelines. However, these guidelines are not as consistent in recommending EMDR interventions for the early treatment of post-traumatic symptoms. The main objective of this review is to evaluate the effectiveness of EMDR therapy for early intervention after a traumatic event. METHODS: A systematic search for randomized clinical trials has been carried out in the PUBMED, CINAHL, Psyc-INFO and Cochrane Library search engines. We included individuals exposed to a recent traumatic event (within 3 months of a traumatic incident). Outcomes on PTSD, depression and anxiety in post-treatment, and at follow-up at 3, 6 and 12 months, as well as on safety and tolerability were extracted. RESULTS: A total of 11 RCTs were found. Studies showed beneficial effects of early EMDR interventions on post-traumatic symptoms at post-treatment and at 3-month follow-up. No differences were found between EMDR and no intervention or another intervention in the remaining analyses. LIMITATIONS: The main limitations are the low quality of the studies, the small number of studies per outcome assessed, and the small sample sizes. CONCLUSIONS: There is evidence for the short-term beneficial effect of early EMDR interventions on post-traumatic symptoms. Although it appears to be a safe therapeutic choice, more studies are necessary that include safety data.


Assuntos
Dessensibilização e Reprocessamento através dos Movimentos Oculares , Transtornos de Estresse Pós-Traumáticos , Humanos , Dessensibilização e Reprocessamento através dos Movimentos Oculares/métodos , Transtornos de Estresse Pós-Traumáticos/terapia , Avaliação de Resultados em Cuidados de Saúde
20.
Endocrinol Diabetes Nutr (Engl Ed) ; 71(2): 53-60, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38493008

RESUMO

SUBJECT-MATTER: To assess the effect of the 2019 coronavirus (COVID-19) pandemic on gestational diabetes (GDM). MATERIAL AND METHODS: In this retrospective, multicentre, non-interventional study carried out in Castilla-La Mancha, Spain, we compared 663 women with GDM exposed to the pandemic (pandemic group), with 622 women with GDM seen one year earlier (pre-pandemic group). The primary endpoint was a Large for Gestational Age (LGA) newborn as an indicator of poor GDM control. Secondary endpoints included obstetric and neonatal complications. RESULTS: During the pandemic, the gestational week at diagnosis (24.2 ±â€¯7.4 vs 22.9 ±â€¯7.7, p = 0.0016) and first visit to Endocrinology (26.6 ±â€¯7.2 vs 25.3 ±â€¯7.6, p = 0.0014) were earlier. Face-to-face consultations were maintained in most cases (80.3%). The new diagnostic criteria for GDM were used in only 3% of cases. However, in the pandemic group, the final HbA1c was higher (5.2 ±â€¯0.48 vs 5.29 ±â€¯0.44%, p = 0.047) and there were more LGA newborns (8.5% vs 12.8%, p = 0.015). There were no differences in perinatal complications. CONCLUSIONS: Care for GDM in our Public Health System did not significantly deteriorate during the COVID-19 pandemic. However, this did not prevent a higher number of LGA newborns.


Assuntos
COVID-19 , Diabetes Gestacional , Gravidez , Recém-Nascido , Feminino , Humanos , Diabetes Gestacional/epidemiologia , Diabetes Gestacional/diagnóstico , Pandemias , Resultado da Gravidez , Estudos Retrospectivos , Espanha/epidemiologia
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