Insights into the Y chromosome human diversity in Uruguay.

BACKGROUND: With regard to the origin of its population and microevolutionary processes, Uruguay exhibits distinctive features that distinguish it from other countries in Latin America, while at the same time sharing several similarities. In this article, we will focus on the variability of paternal genetic lineages in two geographical regions with different histories that can be considered as examples of distinct populations for the continent. In general terms, the genetic diversity is a result of different demographic processes related to the American conquest and colonisation. These resulted in distinct ancestral components which vary geographical and depend on the distribution by sex within these components. In Uruguay, native maternal haplogroups are significantly more frequent in the North. Although there are several studies about the geneticvariability of Uruguay, little is known about male genetic lineages. AIMS: The aim of this work is to present an updated study of the male genetic variability of the Uruguayan population. METHODS: We analyzed 13 biallelic markers and 27 STRs located in the male-specific region of the Y chromosome for 157 males: 98 from the capital, Montevideo, and 59 from Tacuarembó. RESULTS: Almost all haplogroups found in both locations are European (99% and 93.2% respectively). One Sub-Saharan African haplogroup was found in Montevideo (1%) and 2 in Tacuarembó (3%), while Native haplogroups were found only in Tacuarembó, evidencing a strong sex-biased admixture. By crossing genetic and genealogical information we could relate European haplogroups with different waves and times of migrations. DISCUSSION: Network analysis indicated a very diverse male population, suggesting that European migrants came from heterogeneous geographic locations and in different waves. Tacuarembó has closer population affinities with Iberian populations while Montevideo is more diverse. Male population expansion expansion, can be explained by the large number of migrants that arrived during the XIX century and the first half of the XX century. CONCLUSIONS: The Uruguayan male gene pool is the result of several migration waves with diverse origins, with strong sex-biased admixture that can be explained by the European migration, the violence against the indigenous males, and the segregation of the Africansadmixture that can be explained due to European migration, violence against Natives, and segregation against African males.admixture that can be explained due to European migration, violence against Natives, and segregation against African males.admixture that can be explained due to European migration, violence against Natives, and segregation against African males.admixture that can be explained due to European migration, violence against Natives, and segregation of hte Africans.

DNA polymorphisms associated with lactase persistence, self-perceived symptoms of lactose intolerance, milk and dairy consumption, and ancestry, in the Uruguayan population.

Uruguay has one of the highest per capita milk intakes worldwide, even with a limited supply of lactose-free products; furthermore, the admixed nature of its population is well known, and various frequencies of lactase persistence (LP) are observed in the source populations. We aimed to contribute to the understanding of the relation between allelic variants associated with LP, milk consumption, digestive symptoms, and genetic ancestry in the Uruguayan population. Samples of saliva or peripheral blood were collected from 190 unrelated individuals from two regions of Uruguay, genotypes for polymorphic sites in a fragment within the LCT enhancer were determined and allelic frequencies calculated in all of them. Data were collected on frequency of milk and dairy consumption and self-reported symptoms in a subsample of 153 individuals. Biparental and maternal ancestry was determined by analyzing individual ancestry markers and mitochondrial DNA. Twenty-nine percentage of individuals reported symptoms attributed to the ingestion of fresh milk, with abdominal pain, bloating and flatulence being the most frequent. European LP-associated allele T-13910 showed a frequency of 33%, while other LP-associated alleles like G-13915 and T-14011 were observed in very low frequencies. Associations between self-reported symptoms, fresh milk intake, and C/T-13910 genotype were statistically significant. No evidence of association between genetic ancestry and C/T-13910 was found, although individuals carrying one T-13910 allele appeared to have more European ancestry. In conclusion, the main polymorphism capable of predicting lactose intolerance in Uruguayans is C/T-13910, although more studies are required to unravel the relation between genotype and lactase activity, especially in heterozygotes.

Clinical practice guideline for transcatheter versus surgical valve replacement in patients with severe aortic stenosis in Latin America

In elderly (75 years or older) patients living in Latin America with severe symptomatic aortic stenosis candidates for transfemoral approach, the panel suggests the use of transcatheter aortic valve implant (TAVI) over surgical aortic valve replacement (SAVR). This is a conditional recommendation, based on moderate certainty in the evidence. This recommendation does not apply to patients in which there is a standard of care, like TAVI for patients at very high risk for cardiac surgery or inoperable patients, or SAVR for non-elderly patients (eg, under 65 years old) at low risk for cardiac surgery. The suggested age threshold of 75 years old is based on judgement of limited available literature and should be used as a guide rather than a determinant threshold. The conditional nature of this recommendation means that the majority of patients in this situation would want a transfemoral TAVI over SAVR, but some may prefer SAVR. For clinicians, this means that they must be familiar with the evidence supporting this recommendation and help each patient to arrive at a management decision integrating a multidisciplinary team discussion (Heart Team), patient's values and preferences through shared decision-making, and available resources. Policymakers will require substantial debate and the involvement of various stakeholders to implement this recommendation.

Clinical practice guideline for transcatheter versus surgical valve replacement in patients with severe aortic stenosis in Latin America.

In elderly (75 years or older) patients living in Latin America with severe symptomatic aortic stenosis candidates for transfemoral approach, the panel suggests the use of transcatheter aortic valve implant (TAVI) over surgical aortic valve replacement (SAVR). This is a conditional recommendation, based on moderate certainty in the evidence (⨁⨁⨁Ο).This recommendation does not apply to patients in which there is a standard of care, like TAVI for patients at very high risk for cardiac surgery or inoperable patients, or SAVR for non-elderly patients (eg, under 65 years old) at low risk for cardiac surgery. The suggested age threshold of 75 years old is based on judgement of limited available literature and should be used as a guide rather than a determinant threshold.The conditional nature of this recommendation means that the majority of patients in this situation would want a transfemoral TAVI over SAVR, but some may prefer SAVR. For clinicians, this means that they must be familiar with the evidence supporting this recommendation and help each patient to arrive at a management decision integrating a multidisciplinary team discussion (Heart Team), patient's values and preferences through shared decision-making, and available resources. Policymakers will require substantial debate and the involvement of various stakeholders to implement this recommendation.

Subacromial-subdeltoid bursitis following COVID-19 vaccination: a case of shoulder injury related to vaccine administration (SIRVA).

Vaccination injection site adverse reactions are usually mild and transient, and post-vaccination musculoskeletal symptoms, such as myalgia and arthralgia, are very common. Shoulder injury related to vaccine administration (SIRVA), defined as shoulder pain and limited range of motion occurring after the administration of a vaccine intended for intramuscular administration in the upper arm, is a well-established condition in the medical literature, yet underreported. In such cases, subacromial-subdeltoid bursitis may occur, leading to shoulder dysfunction and ongoing pain. Millions of doses of vaccines for the prevention of COVID-19 have been administered to adults worldwide during the pandemic. We report a case of subacromial-subdeltoid bursitis after COVID-19 vaccination, related to the unintentional injection of vaccine solution into the bursa resulting in a robust immune-mediated inflammatory reaction.

Differential admixture in Latin American populations and its impact on the study of colorectal cancer.

Genome-wide association studies focused on searching genes responsible for several diseases. Admixture mapping studies proposed a more efficient alternative capable of detecting polymorphisms contributing with a small effect on the disease risk. This method focuses on the higher values of linkage disequilibrium in admixed populations. To test this, we analyzed 10 genomic regions previously defined as related with colorectal cancer among nine populations and studied the variation pattern of haplotypic structures and heterozygosity values on seven categories of SNPs. Both analyses showed differences among chromosomal regions and studied populations. Admixed Latin-American samples generally show intermediate values. Heterozygosity of the SNPs grouped in categories varies more in each gene than in each population. African related populations have more blocks per chromosomal region, coherently with their antiquity. In sum, some similarities were found among Latin American populations, but each chromosomal region showed a particular behavior, despite the fact that the study refers to genes and regions related with one particular complex disease. This study strongly suggests the necessity of developing statistical methods to deal with di- or tri-hybrid populations, as well as to carefully analyze the different historic and demographic scenarios, and the different characteristics of particular chromosomal regions and evolutionary forces.

BARE SPOT LOCATION IN GLENOID CAVITY: COMPARISON BETWEEN ARTHROSCOPY AND CT SCAN.

OBJECTIVE: To assess whether Bare Spot is previously displaced by proportion (MEASURE BP-A × 1.25/MEASURE BP-P = 1). METHODS: 35 patients with surgical indication for rotator cuff injury repair were evaluated. The distances from the Bare Spot to the anterior edge of the glenoid cavity (BS-A) and to the posterior edge (BS-P) were measured by arthroscopy and computed tomography with three-dimensional reconstruction of the scapula. RESULTS: The distance from the Bare Spot to the anterior border (BS-A tc) was 11.6 mm with a median 12 mm; The distance to the posterior border (BS-P tc) was on average 15.5 mm with a median 15 mm. The distances from BS to anterior cavity edge measured by arthroscopy were on average (BS-A video) 12.25 mm with a median of 12 mm, and from BS to posterior edge (BS-P video) 16.25 mm on average with median 16 mm (p < 0.005). CONCLUSION: Bare Spot is displaced anteriorly at a proportion of 40% of the anterior margin and 60% of the posterior margin. Level of Evidence II - Development of diagnostic criteria on consecutive patients (with universally applied reference "gold standard").

OBJETIVO: Avaliar in vivo se o Bare Spot (BS) se encontra deslocado anteriormente conforme a proporção (MEDIDA BP-A × 1,25/MEDIDA BP-P = 1). MÉTODOS: 35 pacientes com indicação cirúrgica de reparo de lesão do manguito rotador foram avaliados. As distâncias do Bare Spot à borda anterior da cavidade glenoidal (BS-A) e à borda posterior (BS-P) foram mensuradas na artroscopia e na tomografia computadorizada com reconstrução tridimensional da escápula. RESULTADOS: A distância do BS à borda anterior (BS-A tc) foi de 11,6 mm com mediana de 12 mm; a distância à borda posterior (BS-P tc) foi, em média, 15,5 mm com mediana de 15 mm. As distâncias do BS à borda anterior da cavidade medidas na artroscopia foram, em média (BS-A vídeo), 12,25 mm com mediana de 12 mm e do BS à borda posterior (BS-P vídeo) de 16,25 mm, em média, com mediana de 16 mm (p < 0,005). CONCLUSÃO: O BS se encontra deslocado anteriormente a uma proporção de 40% da margem anterior e 60% da margem posterior. Nível de Evidência II - Desenvolvimento de critérios diagnósticos em pacientes consecutivos (com padrão de referência "ouro" aplicado).

Bare spot location in glenoid cavity: comparison between arthroscopy and ct scan / Posicionamento do bare spot na cavidade glenoidal: comparação entre artroscopia e tomografia computadorizada

ABSTRACT Objective: To assess whether Bare Spot is previously displaced by proportion (MEASURE BP-A × 1.25/MEASURE BP-P = 1). Methods: 35 patients with surgical indication for rotator cuff injury repair were evaluated. The distances from the Bare Spot to the anterior edge of the glenoid cavity (BS-A) and to the posterior edge (BS-P) were measured by arthroscopy and computed tomography with three-dimensional reconstruction of the scapula. Results: The distance from the Bare Spot to the anterior border (BS-A tc) was 11.6 mm with a median 12 mm; The distance to the posterior border (BS-P tc) was on average 15.5 mm with a median 15 mm. The distances from BS to anterior cavity edge measured by arthroscopy were on average (BS-A video) 12.25 mm with a median of 12 mm, and from BS to posterior edge (BS-P video) 16.25 mm on average with median 16 mm (p < 0.005). Conclusion: Bare Spot is displaced anteriorly at a proportion of 40% of the anterior margin and 60% of the posterior margin. Level of Evidence II - Development of diagnostic criteria on consecutive patients (with universally applied reference "gold standard").

RESUMO Objetivo: Avaliar in vivo se o Bare Spot (BS) se encontra deslocado anteriormente conforme a proporção (MEDIDA BP-A × 1,25/MEDIDA BP-P = 1). Métodos: 35 pacientes com indicação cirúrgica de reparo de lesão do manguito rotador foram avaliados. As distâncias do Bare Spot à borda anterior da cavidade glenoidal (BS-A) e à borda posterior (BS-P) foram mensuradas na artroscopia e na tomografia computadorizada com reconstrução tridimensional da escápula. Resultados: A distância do BS à borda anterior (BS-A tc) foi de 11,6 mm com mediana de 12 mm; a distância à borda posterior (BS-P tc) foi, em média, 15,5 mm com mediana de 15 mm. As distâncias do BS à borda anterior da cavidade medidas na artroscopia foram, em média (BS-A vídeo), 12,25 mm com mediana de 12 mm e do BS à borda posterior (BS-P vídeo) de 16,25 mm, em média, com mediana de 16 mm (p < 0,005). Conclusão: O BS se encontra deslocado anteriormente a uma proporção de 40% da margem anterior e 60% da margem posterior. Nível de Evidência II - Desenvolvimento de critérios diagnósticos em pacientes consecutivos (com padrão de referência "ouro" aplicado).

Genetic Admixture Analysis in the Population of Tacuarembó-Uruguay Using Alu Insertions.

Tacuarembó is a department located in northeastern Uruguay, whose population is the result of several migration waves from Europe and Near East, as well as Africans and Afro-descents mostly from Brazil; these waves settled with the territory's various Native ethnic groups (Charrúa, Minuán, and Guaraní). In the past, this population has been the focus of genetic studies showing this trihybrid origin, with greater contributions of Natives and Africans than in other Uruguayan regions. In this study we analyzed eight Alu insertions (A25, ACE, APOA1, B65, D1, F13B, PV92, TPA25) to provide valuable information for ancestrality and genetic differentiation and to compare with both previous studies on the Tacuarembó population and Alu frequencies in other Uruguayan populations. The European contribution to Alu and classical markers was almost equal to that of a previous study using 22 classical markers (63% vs. 65%), while African contribution was higher (30% vs. 15%), and Native American contribution shows an important difference in Alu: 7% versus 20%. We found no significant differences in genetic differentiation between Tacuarembó and Montevideo but significant differences between Tacuarembó and Basque descendants from Trinidad. Our results support previous findings obtained with classical markers that demonstrate the trihybrid composition of the Tacuarembó population, correlated with historical records. Thus, Alu insertions provide interesting information in light of the admixture process in the Uruguayan population.

Inversión de los intrones 1 y 22 del F8 en pacientes con hemofilia A severa y portadoras del noreste de Uruguay / F8 intron 1 and 22 inversions in patients with severe haemophilia A and in carriers of the northeastern region of Uruguay / Inversão dos introns 1 e 22 do F8 em pacientes com hemofilia A severa e portadoras do nordeste de Uruguai

Resumen: La hemofilia A (HA) es la coagulopatía ligada al cromosoma X más frecuente. Es causada por mutaciones en el gen del factor VIII (FVIII) de coagulación (F8). La HA puede ser severa cuando la actividad del FVIII es menor a 1% (FVIII: C<1IU/dL). Casi la mitad de las HA severas son producidas por inversiones del F8, como la del intrón 1 (Inv1) y del intrón 22 (Inv22). Los pacientes con HA severa experimentan sus primeros sangrados generales entre los 9,7 - 10,9 meses, ocurriendo principalmente en las articulaciones. Se investigó la presencia de la Inv1 e Inv22 en la región noreste de Uruguay (departamentos de Tacuarembó, Rivera y Cerro Largo) para estimar su frecuencia y detectar la presencia de portadoras. Fueron estudiados 14 individuos (ocho pacientes con HA severa, cuatro madres y dos hermanas de pacientes) de cinco familias. La investigación de las inversiones se realizó aplicando las pruebas de inverse shifting-PCR (IS-PCR). La Inv1 se encontró en dos pacientes (hermanos) de Tacuarembó, en su hermana y madre (portadoras), mientras que un paciente de Rivera y su madre (portadora) resultaron positivos para la Inv22. Preliminarmente, en conjunto, la Inv1 y la Inv22 representan la causa de la HA severa en el 40% de las familias del noreste de Uruguay, valor menor a lo esperado; sin embargo, debido a la reducida población estudiada, la Inv1 muestra una frecuencia preliminar (20%, 1/5 familias, 25%, 2/8 pacientes) considerablemente mayor a estudios previos. Estos datos permiten caracterizar la etiología genética de la hemofilia, la detección de las portadoras, conocer la distribución geográfica de las mutaciones y el asesoramiento genético.

Summary: Hemophilia A (HA) is the most common X-linked coagulopathy, it is caused by mutations in the coagulation factor VIII (FVIII) gene (F8). HA can be severe when the FVIII activity is less than 1% (FVIII: C <1IU / dL). Almost a half of the severe HAs are produced by inversions of F8, the intron 1 (Inv1) and intron 22 (Inv22). Patients with severe HA show their first general bleeding between 9.7 - 10.9 months, mainly in the joints. We researched the presence of Inv1 and Inv22 in the Northeast region of Uruguay (Departments: Tacuarembó, Rivera and Cerro Largo) to estimate their frequency and detect the presence of carriers. We studied 14 individuals in 5 different families (8 patients with severe HA, 4 mothers and 2 sisters of patients). The inversion study was carried out using inverse shifting-PCR (IS-PCR) tests. Inv1 was found in 2 patients (siblings) from Tacuarembó, in their sister and mother (carriers). A patient from Rivera and his mother (carrier) were positive for Inv22. Inv1 and Inv22 are the cause of severe HA in 40% of the patients in North East of Uruguay, less than expected; however, due to the reduced population studied, Inv1 shows a considerably higher frequency than previous studies. These data enable us to characterize the genetic etiology of hemophilia, to adequately monitor patients, detect carriers, the geographical distribution of mutations and the corresponding genetic counseling for families.

Resumo: A hemofilia A (HA) é a coagulopatia ligada ao cromossomo X mais frequente, causada por mutações no gene do fator VIII (FVIII) de coagulação (FVIII) (F8). A HA pode ser grave quando a atividade do FVIII é menor que 1% (FVIII: C <1IU / dL). Quase metade da HA grave é produzida por inversões de F8, como a do Íntron 1 (Inv1) e do Íntron 22 (Inv22). Pacientes com HA grave experimentam seu primeiro sangramento geral entre 9,7 e 10,9 meses, principalmente nas articulações. A presença de Inv1 e Inv22 na região nordeste do Uruguai (departamentos: Tacuarembó, Rivera e Cerro Largo) foi investigada para estimar a sua frequência e detectar a presença de portadora. Foram estudados 14 indivíduos (8 pacientes com HA grave, 4 mães e 2 irmãs de pacientes) de 5 famílias. A pesquisa das inversões foi realizada aplicando os testes de inverse shifting -PCR (IS-PCR). Encontramos Inv1 em 2 pacientes (irmãos) de Tacuarembó, na sua irmã e mãe (portadoras), enquanto 1 paciente de Rivera e sua mãe (transportadora) foram positivos para Inv22. Preliminarmente, Inv1 e Inv22 juntos representam a causa de HA grave em 40% das famílias do nordeste do Uruguai, valor inferior ao esperado, no entanto, devido à pequena população estudada, Inv1 mostra uma frequência preliminar (20%, 1/5 famílias, 25%, 2/8 pacientes) consideravelmente mais alta que os estudos anteriores. Esses dados permitem-nos caracterizar a etiologia genética da hemofilia, detectar aos portadores, conhecer a distribuição geográfica das mutações e realizar aconselhamento genético.

Knowledge, skills and attitudes related to evidence-based practice among undergraduate nursing students: A survey at three universities in Colombia, Chile and Spain.

Teaching nursing students about the model of evidence-based practice is a challenge for university faculty. The aim of this study was to measure knowledge, skills and attitudes related to evidence-based practice among undergraduate nursing students, as well as associated factors. The study involved a cross-sectional design using a survey of all students enrolled in a Bachelor of Nursing programme (1st to 4th year) in three nursing faculties of universities in Chile, Colombia and Spain. The Spanish version of the Evidence-Based Competence Questionnaire was used to measure knowledge, skills, attitudes and overall competency. In total, 875 students completed the questionnaire. The overall score of competency in evidence-based practice was similar in all three universities (range 1-5) (3.63 in Chile, 3.58 in Colombia and 3.68 in Spain). The score of self-rated attitudes was strongly correlated with the overall competency measured. More hours of training in research methods and reading nursing journals articles in the last month were the factors associated with higher scores in evidence-based practice competency. The undergraduate nursing students at the three universities surveyed obtained a high score in overall competency in evidence-based practice. No differences were found among them, despite the different approaches used in educational programmes.

Práctica basada en evidencia en estudiantes de enfermería colombianos / Practice based on evidence from Colombian nursing students / Prática baseada na evidencia de estudantes colombianos de enfermagem

Objetivo. Determinar el nivel de competencias sobre Práctica Basada en Evidencia en estudiantes de un programa de Enfermería de Colombia. Materiales y métodos. Mediante un diseño cuantitativo, descriptivo y correlacional, el estudio se desarrolló en 2 fases. La primera fase consistió en la adaptación cultural y validación de contenido del cuestionario de Competencias en Práctica Basada en la Evidencia (CACH-PBE) al contexto Colombiano; este instrumento valora tres factores: Actitudes, Habilidades y Conocimientos. En la segunda fase se aplicó el cuestionario a una muestra de 291 estudiantes del Programa de Enfermería de una Universidad de Cúcuta, Colombia, durante el primer semestre del 2016. Resultados. Se encontró un promedio de edad de 20 años, de género femenino en su mayoría, el 57,4 % de ellos no tenía ninguna formación previa sobre PBE y el 57.1 % la había recibido en metodología de investigación. La puntuación global de competencia en PBE fue de 3,58 sobre un máximo de 5, destacando la dimensión Actitudes hacia la PBE con mayor puntuación y la dimensión Conocimientos con menor; encontrándose diferencias estadísticamente significativas a mayor medida en que los estudiantes se encontraban en un semestre superior. Conclusiones. Los estudiantes obtuvieron un nivel medio en competencias para la PBE, asociándose un impacto positivo de la formación académica recibida, ya que en los últimos semestres se evidenció mayor puntuación con respecto a los primeros.

Objective: To determine the level of competence regarding Practice Based on Evidence in students of a nursing program in Colombia. Materials and methods: Through a quantitative, descriptive, and correlational design, the study was developed in two phases. The first phase, consisted on the cultural adaptation and validation of the content of the questionnaire of Competitions in Practice Based on Evidence (CACH-PBE) to the Colombian context; this instrument evaluates 3 factors: attitudes, skills, and understanding. In the second phase, the questionnaire was applied to a sample of 291 students of the nursing program of a university in Cucuta­ Colombia during the first semester of 2016. Results: An average age of 20 years was found, mostly females, 57.4% did not have previous training about PBE and 57.1% had received training of PBE in methodology of research. The global score in PBE competence was of 3.58 out of a maximum of 5; highlighting the Attitude dimension toward the PBE with the highest score and the Knowledge dimension with the lowest score; encountering statistically significant differences to a greater extent as the students moved ahead to a higher semester. Conclusions: The students received an average level in competences for the PBE, associating a positive impact with the academic training received, considering that in the last semesters a higher score was evidenced compared to the first ones.

Objetivo. Determinar o nível de competências sobre Prática Baseada na Evidencia (PBE) de estudantes de um curso de Enfermagem na Colômbia. Materiais e métodos. O estudo se desenvolveu em duas fases, através um delineamento quantitativo, descritivo e correlacional, A primeira fase, consistiu na adaptação cultural e validação de conteúdo do questionário de Competências em Prática Baseada na Evidencia (CACH-PBE) no contexto Colombiano; este instrumento valora três fatores: Atitudes, Habilidades e Conhecimentos. Na segunda fase, aplicou-se o questionário a uma amostra de 291 estudantes do Programa de Enfermagem de uma Universidade localizada na cidade de Cúcuta ­ Colômbia, durante o primeiro semestre de 2016. Resultados. Encontrou-se uma média de idade de 20 anos, de género feminino em sua maioria, o 57,4% deles não tinham nenhuma formação previa sobre PBE e o 57,1% a receberam em metodologia da pesquisa. A pontuação global de competência em PBE foi de 3,58 sobre um máximo de 5; destacando a dimensão Atitudes para a PBE com maior pontuação e a dimensão Conhecimentos com menor; encontrando-se diferenças estatisticamente significativas a maior medida em que os estudantes se encontravam num semestre superior. Conclusões. Os estudantes obtiveram um nível médio em competências para a PBE, associando-se um impacto positivo da formação académica recebida, já que nos últimos semestres se evidenciou maior pontuação respeito dos primeiros.

[Economic recession (2006-2012) and changes in the health status of the Spanish population]. / Recesión económica (2006-2012) y cambios en el estado de salud de la población española.

OBJECTIVE: To analyze the relationship of mental health problems in Spanish population with the economic recession (2006-2012), and find out how it affects the self-perception of health status. MATERIALS AND METHODS: Cross-sectional study using the National Health Survey of Spain, 2006/2007 and 2011/2012. Using logistic regression models, three indicators linked to mental health and perceived health were analyzed. RESULTS: In 2011/2012 the consumption of anti-anxiety medications and sleeping pills increased in men and women. Mental dysfunction increased during the economic crisis in the male population. The perception of optimal health did not suffer significantly in either men or women. CONCLUSIONS: The economic recession showed a changing relation to the mental and general health of the population, coinciding with an increase in mental health disorders, such as anxiety.

Recesión económica (2006-2012) y cambios en el estado de salud de la población española / Economic recession (2006-2012) and changes in the health status of the Spanish population

Objetivo. Analizar la relación de los problemas de salud mental en población española con la recesión económica (2006-2012) y establecer en qué sentido afecta a la autopercepción del estado de salud. Material y métodos. Estudio transversal comparativo utilizando la Encuesta Nacional de Salud de España, 2006/2007 y 2011/2012. Mediante modelos de regresión logística, se analizaron tres indicadores relacionados con la salud mental y la salud percibida. Resultados. En 2011/2012 aumentó el consumo de medicamentos ansiolíticos y somníferos en hombres y mujeres. La disfunción mental aumentó durante el periodo de crisis económica en la población de varones. La percepción de una salud óptima no sufrió cambios significativos en hombres ni en mujeres. Conclusiones. La recesión económica mostró una relación variable con la salud mental y general de la población, y coincidió con un aumento de los trastornos de salud mental, como la ansiedad.

Objective. To analyze the relationship of mental health problems in Spanish population with the economic recession (2006-2012), and find out how it affects the self-perception of health status. Materials and methods. Cross-sectional study using the National Health Survey of Spain, 2006/2007 and 2011/2012. Using logistic regression models, three indicators linked to mental health and perceived health were analyzed. Results. In 2011/2012 the consumption of anti-anxiety medications and sleeping pills increased in men and women. Mental dysfunction increased during the economic crisis in the male population. The perception of optimal health did not suffer significantly in either men or women. Conclusions. The economic recession showed a changing relation to the mental and general health of the population, coinciding with an increase in mental health disorders, such as anxiety.

A South American Prehistoric Mitogenome: Context, Continuity, and the Origin of Haplogroup C1d.

Based on mitochondrial DNA (mtDNA), it has been estimated that at least 15 founder haplogroups peopled the Americas. Subhaplogroup C1d3 was defined based on the mitogenome of a living individual from Uruguay that carried a lineage previously identified in hypervariable region I sequences from ancient and modern Uruguayan individuals. When complete mitogenomes were studied, additional substitutions were found in the coding region of the mitochondrial genome. Using a complete ancient mitogenome and three modern mitogenomes, we aim to clarify the ancestral state of subhaplogroup C1d3 and to better understand the peopling of the region of the Río de la Plata basin, as well as of the builders of the mounds from which the ancient individuals were recovered. The ancient mitogenome, belonging to a female dated to 1,610±46 years before present, was identical to the mitogenome of one of the modern individuals. All individuals share the mutations defining subhaplogroup C1d3. We estimated an age of 8,974 (5,748-12,261) years for the most recent common ancestor of C1d3, in agreement with the initial peopling of the geographic region. No individuals belonging to the defined lineage were found outside of Uruguay, which raises questions regarding the mobility of the prehistoric inhabitants of the country. Moreover, the present study shows the continuity of Native lineages over at least 6,000 years.

Effect of genetic ancestry on leukocyte global DNA methylation in cancer patients.

BACKGROUND: The study of genetic variants alone is not enough to explain a complex disease like cancer. Alterations in DNA methylation patterns have been associated with different types of tumor. In order to detect markers of susceptibility for the development of cutaneous melanoma and breast cancer in the Uruguayan population, we integrated genetic and epigenetic information of patients and controls. METHODS: We performed two case-control studies that included 49 individuals with sporadic cutaneous melanoma and 73 unaffected controls, and 179 women with sporadic breast cancer and 209 women controls. We determined the level of global leukocyte DNA methylation using relative quantification of 5mdC by HPLC, and we compared methylation levels between cases and controls with nonparametric statistical tests. Since the Uruguayan population is admixed and both melanoma and breast cancer have very high incidences in Uruguay compared to other populations, we examined whether individual ancestry influences global leucocyte DNA methylation status. We carried out a correlation analysis between the percentage of African, European and Native American individual ancestries, determined using 59 ancestry informative markers, and global DNA methylation in all participants. RESULTS: We detected global DNA hypomethylation in leukocytes of melanoma and breast cancer patients compared with healthy controls (p < 0.001). Additionally, we found a negative correlation between African ancestry and global DNA methylation in cancer patients (p <0.005). CONCLUSIONS: These results support the potential use of global DNA methylation as a biomarker for cancer risk. In addition, our findings suggest that the ancestral genome structure generated by the admixture process influences DNA methylation patterns, and underscore the importance of considering genetic ancestry as a modifying factor in epigenetic association studies in admixed populations such as Latino ones.

Breast cancer risk and genetic ancestry: a case-control study in Uruguay.

BACKGROUND: Uruguay exhibits one of the highest rates of breast cancer in Latin America, similar to those of developed nations, the reasons for which are not completely understood. In this study we investigated the effect that ancestral background has on breast cancer susceptibility among Uruguayan women. METHODS: We carried out a case-control study of 328 (164 cases, 164 controls) women enrolled in public hospitals and private clinics across the country. We estimated ancestral proportions using a panel of nuclear and mitochondrial ancestry informative markers (AIMs) and tested their association with breast cancer risk. RESULTS: Nuclear individual ancestry in cases was (mean ± SD) 9.8 ± 7.6% African, 13.2 ± 10.2% Native American and 77.1 ± 13.1% European, and in controls 9.1 ± 7.5% African, 14.7 ± 11.2% Native American and 76.2 ± 14.2% European. There was no evidence of a difference in nuclear or mitochondrial ancestry between cases and controls. However, European mitochondrial haplogroup H was associated with breast cancer (OR = 2.0; 95% CI 1.1, 3.5). CONCLUSIONS: We have not found evidence that overall genetic ancestry differs between breast cancer patients and controls in Uruguay but we detected an association of the disease with a European mitochondrial lineage, which warrants further investigation.

The mitochondrial DNA history of a former native American village in northern Uruguay.

OBJECTIVES: In 1828, between 8,000 and 15,000 Indians from the Jesuit Missions were brought to Uruguay. There, they were settled in a village, presently named Bella Unión, in the northwest corner of the country. According to historic sources, the Indians abandoned the settlement shortly thereafter, with the village subsequently repopulated by "criollos" and immigrants from abroad. As a first approach to reconstruct the genetic history of the population, data about the living population genetic structure will be used. Based on the analysis of the maternal lineages of the inhabitants of Bella Unión, and of those from two nearby villages, we expect to partially answer what happened with the first and subsequent inhabitants. METHODS: We analyzed the maternal lineages of the present inhabitants of Bella Unión and neighboring localities through the sequencing of the mitochondrial DNA control region. RESULTS: A total of 64.3%, 5.7%, and 30% of the mtDNAs were of Native, African, and West Eurasian origin, respectively. These figures are quite similar to that of the population of Tacuarembó, which is located in northeastern Uruguay. The four main Native American founding haplogroups were detected, with B2 being the most frequent, while some rare subhaplogroups (B2h, C1b2, D1f1) were also found. When compared with other Native American sequences, near- matches most consistently pointed to an Amazonian Indian origin which, when considered with historical evidence, suggested a probable Guaraní-Missionary-related origin. CONCLUSIONS: The data support the existence of a relationship between the historic and present inhabitants of the extreme northwest Uruguay, with a strong contribution of Native Americans to the mitochondrial DNA diversity observed there.

Knowledge, Attitude and Use of Evidence-Based Practice among nurses active on the Internet.

OBJECTIVE: to determine the evidence-based practice (EBP) competence of Spanish and Latin-American nurses participating in professional forums on the Internet and estimate the influence of socio-demographic and professional factors on their competence, which was defined as knowledge of, attitude towards, and implementation of EBP. METHODOLOGY: An online survey was administered to a convenience sample of nurses active in Internet forums, comprising validated Spanish versions of the Evidence-Based Practice Questionnaire (EBPQ) and Practice Environment Scale of the Nursing Work Index (PES-NWI) and socio-demographics and professional variables. RESULTS: 314 questionnaires were obtained (76.96%). The mean EBPQ score was 5.02 out of 7 (95%CI, 4.89-5.14). The variables associated with a higher competence in EBP were academic level, (p<03001), professional category (p=0.001), country of work (p<0.001), perception of practice environment (p=0,018) and research activities (p<0,036). CONCLUSIONS: These nurses showed a moderate level of EBP competence. They revealed a positive attitude towards EBP and achieved intermediate scores in both EBP-related skills and knowledge and their implementation. Higher academic levels and professional categories were associated with greater EBP competence. A practice environment perceived to be unfavorable has a negative influence on EBP implementation.