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.

Skin injuries associated with severe life-threatening situations: A new conceptual framework.

PURPOSE: To create a conceptual framework for skin injuries developing in patients whose lives are severely compromised or who are expected to die within a short period of time. To name and classify these types of skin injuries. To describe the clinical features of the different types of skin injuries that may occur in terminally ill and/or dying patients. DESIGN: A sequential design with several different phases (a literature review, a nominal group, and a consensus conference) was used. METHODS: Six experts with extensive knowledge of these types of injuries were selected for the nominal group. The traditional eight-phase nominal group technique was followed. The consensus conference consisted of participants voting on different options based on the statements elaborated with the expert panel summarizing the best scientific evidence available. FINDINGS: Using all these elements, a conceptual framework was constructed to identify skin injuries associated with severe life-threatening situations (SI-SLTSs), defined as unpredictable and therefore unpreventable injuries indicating a serious threat to life or even imminent death. These injuries can occur in two forms: (a) as skin injuries associated with multiple organ dysfunction syndrome (SI-MODSs) or (b) as skin injuries associated with severe vasoconstriction (SI-ESVs). SI-MODSs develop very quickly and suddenly. They progress from superficial to deep stages abruptly, even within hours. The severity of the injuries does not reflect the care provided to the patient. Individuals suffering from these injuries have an irreversible clinical condition. SI-ESVs also appear in individuals who are in a very critical, even terminal, clinical condition. They are frequently treated in the ICU and may exhibit severe vasoconstriction due to their disease process (e.g., shock), sometimes exacerbated by vasoconstriction caused by various drugs (e.g., noradrenaline). CONCLUSIONS: We have developed a conceptual framework for skin injuries developing in patients whose lives are severely compromised or who are expected to die within a short period of time and have named them SI-SLTSs, distinguishing between SI-MODSs and SI-ESVs. CLINICAL RELEVANCE: This new conceptual framework may help clinicians understand the mechanisms and the pathophysiology of skin injuries that develop in terminally ill and/or dying patients associated with multi-organ failure. Through this new framework these injuries can be identified and differentiated from pressure injuries or other dependence-related skin lesions.

Algorithm for the differential diagnosis between dependence-related skin injuries and severe life-threatening skin injuries.

AIM: To develop a diagnostic algorithm to differentiate dependence-related skin injuries (avoidable) from severe life-threatening skin injuries (unavoidable). METHOD: A nominal group technique was used. Six experts with extensive knowledge of these types of injuries were selected for the group. All were nurses with a PhD in wound research and had more than 15 years of experience in wound care. The experts were asked only one question: In your opinion, what are the basic and indispensable aspects to differentiate a dependence-related skin injury (DR-SI) from a severe life-threatening skin injury (SLT-SI)? RESULTS: The experts identified three basic elements to differentiate DL-SI and SLT-SI (clinical situation, provision of care, and clinical characteristics of the lesions). A diagnostic algorithm was developed to differentiate the two types of skin lesions using the three basic elements identified, a literature review, and what was published in the two articles that define DR-SI and STL-SI. CONCLUSION: We developed a diagnostic algorithm to differentiate dependence-related skin injuries (avoidable) from severe life-threatening skin injuries (unavoidable). The algorithm also facilitates the identification of the subtypes of these injuries, depending on its location and characteristics.

Nurses and ward managers' perceptions of leadership in the evidence-based practice: A qualitative study.

AIM: To describe nurses and ward managers' experiences with nursing leadership in the implementation of evidence-based practice. BACKGROUND: The implementation of evidence-based practice requires to identify the most suitable styles of nursing leadership for the successful application. DESIGN: A qualitative descriptive study. METHODS: The study was carried out with 57 nurses (clinical nurses and ward managers) in eight focus groups from five public hospitals. Template analysis, using the Promoting Action on Research Implementation in Health Services framework, was used. The Consolidated Criteria for Reporting Qualitative Research guide was followed in planning and reporting this research. RESULTS: Three types of nursing leadership were identified: traditional leadership, medium leadership and transformational leadership. Traditional leadership was the most frequent, with a predominance of bureaucratic tasks for ward managers, so implementation of evidence-based practice is difficult. CONCLUSION: Nurses do not feel empowered and they perceive the changes as an imposition. In the absence of strong leadership for evidence-based practice, a natural leader emerges. IMPLICATIONS FOR NURSING MANAGEMENT: Clinical nurses demand more empowerment for decision-making, and ward managers need clarity of roles. To create an environment favourable to evidence-based practice, it is necessary consider the role of the transformational leader.

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.

Kennedy terminal ulcer and other skin wounds at the end of life: An integrative review.

AIMS: To undertake an integrative literature review to identify, analyse and synthesize current literature on the Kennedy terminal ulcer (KTU) and other unavoidable skin injuries that appear at the end of life regardless of the healthcare context in which they occur. METHODS: Integrative review following the Whittemore and Knafl methodology. The search was carried out in PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL), and Scopus. It was limited to articles in English, French, Portuguese and Spanish. As there is little scientific production on the subject, no restrictions were applied regarding publication date. RESULTS: Only 17 articles met the inclusion criteria. These articles were reviewed and analysed. Four relevant issues emerged: Skin failure, SCALE, Kennedy Terminal Ulcer, Trombley-Brennan: different names for the same problem; the defining characteristics and physiopathology of KTU; the differences between KTU and other injuries; and the care approach for KTU and other unavoidable injuries at the end of life. CONCLUSIONS: We identified gaps regarding the physiopathology of KTU since the current knowledge is based only on hypotheses. There is also a large gap in the knowledge about care approaches, perhaps because care plans are not recorded. Despite this, it is clear that the main objective in this situation at the end of life would be to prioritize patient comfort and quality of life.

Conceptual Framework for Incontinence-Associated Dermatitis Based on Scoping Review and Expert Consensus Process.

Incontinence-associated dermatitis (IAD) has been studied over the last decades, but gaps in the knowledge related to its identification, etiological agents, and risk factors remain. We carried out a scoping review about IAD that included systematic reviews, experimental, and observational studies about IAD and its potential risk factors. We retrieved 24 articles that described 100 potential risk factors and which were synthesized by the authors and proposed to a panel of experts. Panelists used a structured process of consensus development to create a conceptual framework of factors associated with IAD. This framework proposes that liquid fecal material, when combined with exposure to urine and stool, and bacterial contaminated urine are etiological factors for development of IAD. The framework also proposes 2 pathophysiological mechanisms and 8 main risk factors for IAD development. The proposed model could improve the quality of care for patients with or at risk of IAD, assisting healthcare professionals to identify at-risk patients, diagnose the type of lesion, and establish adequate and effective prevention and treatment measures.

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.

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.

Measuring knowledge of Alzheimer's: development and psychometric testing of the UJA Alzheimer's Care Scale.

BACKGROUND: Care for people with Alzheimer's disease or other dementias should be based on up-to-date clinical practice guidelines. The education and training of nurses and other healthcare staff in dementia is a key factor in providing quality care. Knowledge of Alzheimer's disease can be measured through questionnaires. The aim of this study was to develop and validate a scale to measure Alzheimer's disease knowledge among both nursing staff and students. METHODS: This was a cross-sectional survey study undertaken in three stages: 1) development of the questionnaire and item wording; 2) content validation by an expert panel; 3) questionnaire testing with two samples to establish psychometric properties. Sample 1 comprised 361 Registered Nurses, Assistant Nurses and eldercare workers from 24 nursing homes in Jaén (southern Spain). Sample 2 comprised 297 nursing students. The data were analysed through item analysis and a Rasch model. Convergent and construct validity and internal consistency were also examined. RESULTS: The 23-item UJA Alzheimer's Care Scale shows good outfit and infit values based on the Rasch model. One item presented differential functioning between Registered Nurses and Assistant Nurses. The intraclass correlation coefficient between the UJA Alzheimer's Care Scale and the Spanish version of the Dementia Knowledge Assessment Tool 2 showed strong agreement among nursing staff (0.63) and students (0.79). The scale is able to distinguish between professionals with low or high knowledge of Alzheimer's care. The overall Cronbach's alphas were 0.70 (nursing staff) and 0.82 (nursing students). The intraclass correlation coefficient between the first test and the retest was good (0.84). CONCLUSIONS: The UJA Alzheimer's Care Scale is a useful tool for measuring knowledge of Alzheimer's disease and dementia care among nursing professionals or nursing students. The initial validation study obtained good psychometric properties concerning validity and reliability.

Effectiveness and safety of olive oil preparation for topical use in pressure ulcer prevention: Multicentre, controlled, randomised, and double-blinded clinical trial.

This non-inferiority, multicentre, randomised, controlled, and double-blinded clinical trial compared the therapeutic effectiveness of the topical application of an olive oil solution with that of a hyperoxygenated fatty acid compound for the prevention of pressure ulcers in at-risk nursing home residents. The study population comprised 571 residents of 23 nursing homes with pressure ulcer risk, randomly assigned to a hyperoxygenated fatty acid group (n = 288) or olive oil solution group (n = 283). Both solutions were applied on at-risk skin areas every 12 hours for 30 days or until pressure ulcer onset. The main outcome variable was the pressure ulcer incidence. The absolute risk difference was estimated (with 95% CI) using Kaplan-Meier survival and Cox regression curves. The groups did not significantly differ in any study variable at baseline. The pressure ulcer incidence was 4.18% in the olive oil group vs 6.57% in the control group, with an incidence difference of -2.39% (95% CI = -6.40 to 1.56%), which is within the pre-established non-inferiority margin of ±7%, thus supporting the study hypothesis. We present the first evidence of the effectiveness and safety of the topical application of olive oil to prevent pressure ulcers in the institutionalised elderly.

Penicillium roqueforti PR toxin gene cluster characterization.

PR toxin is a well-known isoprenoid mycotoxin almost solely produced by Penicillium roqueforti after growth on food or animal feed. This mycotoxin has been described as the most toxic produced by this species. In this study, an in silico analysis allowed identifying for the first time a 22.4-kb biosynthetic gene cluster involved in PR toxin biosynthesis in P. roqueforti. The pathway contains 11 open reading frames encoding for ten putative proteins including the major fungal terpene cyclase, aristolochene synthase, involved in the first farnesyl-diphosphate cyclization step as well as an oxidoreductase, an oxidase, two P450 monooxygenases, a transferase, and two dehydrogenase enzymes. Gene silencing was used to study three genes (ORF5, ORF6, and ORF8 encoding for an acetyltransferase and two P450 monooxygenases, respectively) and resulted in 20 to 40% PR toxin production reductions in all transformants proving the involvement of these genes and the corresponding enzyme activities in PR toxin biosynthesis. According to the considered silenced gene target, eremofortin A and B productions were also affected suggesting their involvement as biosynthetic intermediates in this pathway. A PR toxin biosynthesis pathway is proposed based on the most recent and available data.

Genetic basis for mycophenolic acid production and strain-dependent production variability in Penicillium roqueforti.

Mycophenolic acid (MPA) is a secondary metabolite produced by various Penicillium species including Penicillium roqueforti. The MPA biosynthetic pathway was recently described in Penicillium brevicompactum. In this study, an in silico analysis of the P. roqueforti FM164 genome sequence localized a 23.5-kb putative MPA gene cluster. The cluster contains seven genes putatively coding seven proteins (MpaA, MpaB, MpaC, MpaDE, MpaF, MpaG, MpaH) and is highly similar (i.e. gene synteny, sequence homology) to the P. brevicompactum cluster. To confirm the involvement of this gene cluster in MPA biosynthesis, gene silencing using RNA interference targeting mpaC, encoding a putative polyketide synthase, was performed in a high MPA-producing P. roqueforti strain (F43-1). In the obtained transformants, decreased MPA production (measured by LC-Q-TOF/MS) was correlated to reduced mpaC gene expression by Q-RT-PCR. In parallel, mycotoxin quantification on multiple P. roqueforti strains suggested strain-dependent MPA-production. Thus, the entire MPA cluster was sequenced for P. roqueforti strains with contrasted MPA production and a 174bp deletion in mpaC was observed in low MPA-producers. PCRs directed towards the deleted region among 55 strains showed an excellent correlation with MPA quantification. Our results indicated the clear involvement of mpaC gene as well as surrounding cluster in P. roqueforti MPA biosynthesis.

Cultural Adaptation and Psychometric Evaluation of the Spanish Version of the Nursing Outcome "Pain Control" in Primary Care Patients with Chronic Pain.

The control of chronic pain is a major challenge for patients and health care professionals. To culturally adapt the Nursing Outcomes Classification outcome "Pain control" (PC) to the Spanish health care setting and to analyze its psychometric properties and sensitivity to change. A study of three stages was designed: (1) Translation and cultural adaptation by translation-back-translation method, (2) content validation by a group of experts, and (3) observational-longitudinal study in patients with chronic pain. Patient sampling was nonprobabilistic, and participants completed forms and questionnaires and responded to a question on pain. Statistical analysis included descriptive analysis, content validity index (for global PC and each indicator), principal component analysis, Spearman's test, Cronbach's α, Cohen's κ coefficient, and Wilcoxon range test. The new Spanish version of "Pain control" was semantically equivalent to the original, with a mean content validity index of 0.96. The clinical study included 88 patients with long-term pain, and the mean (standard deviation) interval between assessments (baseline and final) was 29.33 (8.05) days. Thirteen indicators were organized into two components. There was divergent but not convergent validity with the Change Pain Scale and Brief Pain Inventory. Between-observer agreement was κ = 0.48 and internal consistency was α = 0.85. No differences were found between mean baseline and final scores. The Spanish version of "Pain control," culturally adapted and structured in two components (13 indicators), is useful to assess and monitor pain control in patients with chronic pain.

[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.

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.

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.

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.

Clinical Pathway for Thyroidectomy.

Clinical pathways are care plans applicable to patient care procedures that present variations in practice and a predictable clinical course. They are designed not as a substitute for clinical judgment, but rather as a means to improve the effectiveness and efficiency of the procedures. This clinical pathway is the result of a collaborative work of the Sections of Endocrine Surgery and Quality Management of the Spanish Association of Surgeons. It attempts to provide a framework for standardizing the performance of thyroidectomy, the most frequently performed operation in endocrine surgery. Along with the usual documents of clinical pathways (temporary matrix, variance tracking and information sheets, assessment indicators and a satisfaction questionnaire) it includes a review of the scientific evidence around different aspects of pre, intra and postoperative management. Among others, antibiotic and antithrombotic prophylaxis, preoperative preparation in hyperthyroidism, intraoperative neuromonitoring and systems for obtaining hemostasis are included, along with management of postoperative hypocalcemia.