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1.
J Psychiatr Res ; 174: 73-83, 2024 Apr 11.
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.

2.
J Gastrointest Surg ; 28(4): 381-388, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38583887

RESUMO

BACKGROUND: Among bariatric techniques, sleeve gastrectomy (SG) stands out owing to its efficiency. The role of the stomach as a secretory organ of many substances, such as gastrin, related to insulin secretion is well known. Gastrin induces insulin release in isolated pancreatic islets, limiting somatostatin-14 intraislet release, and has been associated with blood glucose level improvement in diabetic models after SG. SG involves gastric resection along the greater curvature. This study aimed to determine the role of gastrin in glucose metabolism improvement after SG with the aid of the gastrin antagonist netazepide. METHODS: In 12 sham-operated, 12 SG-operated, and 12 SG-operated/netazepide-treated Wistar rats, we compared medium- and long-term plasma insulin, oral glucose tolerance test (OGTT) results, and plasma gastrin levels. In addition, gastrin expression was assessed in the gastric remnant, and the beta-cell mass was measured. RESULTS: SG induced a medium-term elevation of the insulin response and plasma gastrin levels without modification of the OGTT results. However, long-term depletion of the insulin response with elevated OGTT areas under the curve and plasma gastrin levels appeared after SG. Netazepide prevented the SG effect on these parameters. Gastrin tissue expression was greater in SG animals than in SG/netazepide-treated or control animals. The beta-cell mass was lower in the SG group than in the control or SG/netazepide group. CONCLUSION: Gastrin plays a central role in glucose improvement after SG. It stimulates a medium-term strong insulin response but also causes long-term beta-cell mass depletion and a loss of insulin response. These effects are prevented by gastrin antagonists such as netazepide.


Assuntos
Benzodiazepinonas , Diabetes Mellitus Tipo 2 , Gastrinas , Compostos de Fenilureia , Ratos , Animais , Gastrinas/metabolismo , Ratos Wistar , Glucose/metabolismo , Insulina , Gastrectomia/métodos , Glicemia/metabolismo , Diabetes Mellitus Tipo 2/cirurgia
3.
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
5.
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
6.
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.

7.
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
8.
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
9.
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
10.
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
11.
Endocrinol Diabetes Nutr (Engl Ed) ; 70 Suppl 1: 95-102, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36906509

RESUMO

OBJECTIVE: To provide practical recommendations for the comprehensive approach of people with type 2 diabetes according to evidence-based medicine. PARTICIPANTS: Members of the Diabetes Knowledge Area of the Spanish Society of Endocrinology and Nutrition. METHODS: The recommendations were formulated according to the degrees of evidence of the Standards of Medical Care in Diabetes-2022. After reviewing the available evidence and formulating recommendations by the authors of each section, several rounds of comments were developed incorporating the contributions and voting on controversial points. Finally, the final document was sent to the rest of the members of the area for review and incorporation of contributions, to finally carry out the same process with the members of the Spanish Society of Endocrinology and Nutrition Board of Directors. CONCLUSIONS: The document establishes practical recommendations based on the latest available evidence for the management of people with type 2 diabetes.


Assuntos
Diabetes Mellitus Tipo 2 , Humanos , Diabetes Mellitus Tipo 2/terapia , Sociedades Médicas , Espanha
12.
Res Vet Sci ; 155: 103-114, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36669378

RESUMO

The dog was probably the first domesticated animal. Despite extensive archaeological and genetic investigations, the origin and the evolution of the extant dogs are still being debated. Dog breeds that have over time been selected for hunting share common ancestral traits. This study represents the first comprehensive attempt to survey at the genomic and mitochondrial level eight hound-like dogs breeds indigenous to the Mediterranean Basin to determine if they share common ancient origins. Results from the microsatellite analysis indicate that all the dog populations have a low inbreeding value.The Kelb tal-Fenek has a high divergence from the current Egyptian street population, however there is not enough evidence from this study to exclude completely the potential of an ancient common relationship. Overall, the mitochondrial results indicate high frequencies of haplogroups A and B and a low representation of haplogroup C, while only one Egyptian dog could be assigned to haplogroup D. Results reveal identities and shared clades, suggesting the conservation of ancient European mitotypes in the Mediterranean hound-like breeds, especially in the Egyptian population. Although none of the dog populations/breeds participating in this study indicate to be direct descendants of the Egyptian dogs, they still have a very close morphologically resemblance to those iconic Egyptian dogs often depicted in ancient art forms and share some genetic links with the current Egyptian population. Further research is required with other markers such us complete mitogenomes and SNP panels to confirm the complex history of the Mediterranean dogs involved in this study.


Assuntos
DNA Mitocondrial , Variação Genética , Animais , Cães , Haplótipos , DNA Mitocondrial/genética , Filogeografia , Endogamia , Filogenia
13.
Poult Sci ; 102(1): 102311, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36495620

RESUMO

The domestic turkey is a native breed in danger of extinction due to the introduction of new breeds specializing in meat production and yield. Turkeys have lost some prominence in urban areas, and only certain breeds of turkeys are preserved in rural areas. Wild and domestic turkeys are different; rural or indigenous turkeys, with black plumage, were domesticated from Mexican turkeys and have been reproduced throughout Latin America. Some of them were taken to Europe in the 16th century and later arrived in North America, where they crossed with another wild species, from which the bronze turkey emerged: the ancestor of all commercial turkeys. The objective of the present work was to evaluate the genetic diversity in 10 populations of domestic turkeys worldwide by using breeds from Europe: Spain and Italy; America: Mexico, United States and Brazil; and the Near East: Iran and Egypt. A total of 522 blood samples of both sexes were collected from domestic turkey populations. Thirty-four microsatellites were used to obtain genetic parameters, and genetic diversity was evaluated. All microsatellites used were polymorphic, and a total of 427 alleles were detected across the 34 markers investigated. In this study, a mean number of 13.44 alleles was found. The four most diverse breeds were from the Andalusia, Mexico, United States, and wild populations, which had the highest mean heterozygosity expected (0.619, 0.612, 0.650, and 0.773) and heterozygosity observed (0.422, 0.521, 0.429, and 0.627), respectively. The MNT348 marker deviated from the HWE in all populations. Our study has shown that the populations close to the species origin are more diverse than those resulting from posterior expansions. Mexican birds were the most diverse, followed by the Spanish populations because Spain imported a large number of turkeys coming from America. Such information can be complementary to other genotypic data required to validate the evolutionary relationships among turkey populations.


Assuntos
Variação Genética , Perus , Feminino , Masculino , Animais , Perus/genética , Galinhas/genética , Genótipo , Repetições de Microssatélites , Codorniz/genética
14.
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
15.
Endocrinol Diabetes Nutr (Engl Ed) ; 69(9): 732-743, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36404267

RESUMO

OBJECTIVE: To guide professionals involved in the care of people with diabetes mellitus who practice sport. PARTICIPANTS: Members of the Diabetes Mellitus Working Group of the Spanish Society of Endocrinology and Nutrition. METHODS: A group of experts in each area covered by the statement carried out a bibliographic review of the available evidence for each topic, based on which recommendations were subsequently agreed upon within the Diabetes Mellitus Working Group. CONCLUSIONS: The statement provides practical recommendations for the management of diabetes mellitus during sports practice.


Assuntos
Diabetes Mellitus , Endocrinologia , Humanos , Diabetes Mellitus/terapia , Consenso
16.
Animals (Basel) ; 12(20)2022 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-36290119

RESUMO

Ca Rater Mallorquí is a dog breed from the Island of Mallorca (Spain) traditionally used as a hunting and ratting dog to prevent disease spread and economic losses related to rodent activities on farms. However, the census data shows a population decline that should be addressed by implementing a conservation program. The first step to implementing a conservation plan is knowing the genetic situation of the Ca Rater Mallorquí population. Therefore, we aimed to genetically characterise the breed in our study. We analysed 33 microsatellites recommended by the International Society of Animal Genetics (ISAG) in 77 samples. Data were obtained from 13 samples of Balearic, Spanish, and international dog breeds to study the genetic diversity among breeds. The population did not significantly deviate from the Hardy-Weinberg equilibrium with heterozygosity (Ho) of 0.655 and expected heterozygosity (He) of 0.685. The Wright's fixation indices, the Factorial Correspondence Analysis (FCA), a dendrogram representing Reynolds genetic distance between populations, and the pairwise FST values establish the Ca Rater Mallorquí as an independent breed distinct from the Balearic, Spanish, and international breeds.

17.
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
18.
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
19.
Front Genet ; 13: 872660, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35646103

RESUMO

Curraleiro Pé-Duro (CPD) cattle, a Brazilian local breed, are animals that are highly resistant to infectious and parasitic diseases. Strategies for the conservation of the breed and the genetic resistance to diseases should also consider the characteristics of the breed. The objective of this study was to analyze the diversity and population structure of the CPD breed using microsatellite markers and to correlate the serological profiles for causative agents of brucellosis, leptospirosis, neosporosis, leukosis, infectious bovine rhinotracheitis, and bovine viral diarrhea. DNA samples of 608 bovines were amplified and genotyped using 28 microsatellite markers for breed characterization. The genotypes were assigned to three clusters, indicating a substructure population related to the geographic distance. The observed heterozygosity was lower than that expected in most loci, and fixation index (Fst) in the subpopulation values ranged from 0.03073 (ETH3) to 0.402 (INRA63) on cluster 1, from 0.00 (INRA32) to 0.39359 (INRA63) on cluster 2, and from 0.00 (INRA32) to 0.28483 (TGLA53) on cluster 3. The Brucella spp., Neospora caninum, and Bovine Leukemia Virus frequencies were significantly different (p < 0.05) between clusters. The differences between the occurrences of diseases were not sufficient to indicate a genetic subpopulation with increased resistance to infections.

20.
J Anim Sci Biotechnol ; 13(1): 35, 2022 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-35264251

RESUMO

BACKGROUND: Inbreeding depression can adversely affect traits related to fitness, reproduction and productive performance. Although current research suggests that inbreeding levels are generally low in most goat breeds, the impact of inbreeding depression on phenotypes of economic interest has only been investigated in a few studies based on genealogical data. RESULTS: We genotyped 1040 goats with the Goat SNP50 BeadChip. This information was used to estimate different molecular inbreeding coefficients and characterise runs of homozygosity and homozygosity patterns. We detected 38 genomic regions with increased homozygosity as well as 8 ROH hotspots mapping to chromosomes 1, 2, 4, 6, 14, 16 and 17. Eight hundred seventeen goats with available records for dairy traits were analysed to evaluate the potential consequences of inbreeding depression on milk phenotypes. Four regions on chromosomes 8 and 25 were significantly associated with inbreeding depression for the natural logarithm of the somatic cell count. Notably, these regions contain several genes related with immunity, such as SYK, IL27, CCL19 and CCL21. Moreover, one region on chromosome 2 was significantly associated with inbreeding depression for milk yield. CONCLUSIONS: Although genomic inbreeding levels are low in Murciano-Granadina goats, significant evidence of inbreeding depression for the logarithm of the somatic cell count, a phenotype closely associated with udder health and milk yield, have been detected in this population. Minimising inbreeding would be expected to augment economic gain by increasing milk yield and reducing the incidence of mastitis, which is one of the main causes of dairy goat culling.

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