The genomic history of the indigenous people of the Canary Islands.

The indigenous population of the Canary Islands, which colonized the archipelago around the 3rd century CE, provides both a window into the past of North Africa and a unique model to explore the effects of insularity. We generate genome-wide data from 40 individuals from the seven islands, dated between the 3rd-16rd centuries CE. Along with components already present in Moroccan Neolithic populations, the Canarian natives show signatures related to Bronze Age expansions in Eurasia and trans-Saharan migrations. The lack of gene flow between islands and constant or decreasing effective population sizes suggest that populations were isolated. While some island populations maintained relatively high genetic diversity, with the only detected bottleneck coinciding with the colonization time, other islands with fewer natural resources show the effects of insularity and isolation. Finally, consistent genetic differentiation between eastern and western islands points to a more complex colonization process than previously thought.

The Genomics and Metagenomics of Asthma Severity (GEMAS) Study: Rationale and Design.

Asthma exacerbations are a major contributor to the global disease burden, but no significant predictive biomarkers are known. The Genomics and Metagenomics of Asthma Severity (GEMAS) study aims to assess the role of genomics and the microbiome in severe asthma exacerbations. Here, we present the design of GEMAS and the characteristics of patients recruited from March 2018 to March 2020. Different biological samples and demographic and clinical variables were collected from asthma patients recruited by allergy and pulmonary medicine units in several hospitals from Spain. Cases and controls were defined by the presence/absence of severe asthma exacerbations in the past year (oral corticosteroid use, emergency room visits, and/or asthma-related hospitalizations). A total of 137 cases and 120 controls were recruited. After stratifying by recruitment location (i.e., Canary Islands and Basque Country), cases and controls did not differ for most demographic and clinical variables (p > 0.05). However, cases showed a higher proportion of characteristics inherent to asthma exacerbations (impaired lung function, severe disease, uncontrolled asthma, gastroesophageal reflux, and use of asthma medications) compared to controls (p < 0.05). Similar results were found after stratification by recruitment unit. Thereby, asthma patients enrolled in GEMAS are balanced for potential confounders and have clinical characteristics that support the phenotype definition. GEMAS will improve the knowledge of potential biomarkers of asthma exacerbations.

Left ventricular filling pressure in male patients with type 2 diabetes and normal versus low total testosterone levels.

BACKGROUND: Heart failure is a common complication of diabetes characterized by an elevation in left ventricular filling pressures (LVF) that often develops in the absence of clinical symptoms. Diastolic dysfunction in the setting of low total testosterone (LTT) occurs through changes in the regulation of peripheral hemodynamics. LTT is highly prevalent among individuals with type 2 diabetes. The aim of this study was to compare LVF in male diabetic patients with no structural heart disease and normal serum testosterone levels vs. those with LTT. METHODS: Type 2 diabetic patients were assessed using tissue Doppler imaging to evaluate LVF and other conventional parameters of diastolic function. The E/e' ratio was used to estimate LVF through the ratio of peak passive trans-mitral left ventricular inflow velocity to the peak passive inflow velocity at the lateral mitral annulus. Patients were assigned to one of two groups based upon their total testosterone levels. Group A consisted of low (< 3.5 ng/mL) testosterone levels and group B consisted of normal (> 3.5 ng/mL) testosterone levels. RESULTS: A total of 148 male patients were included: group A--47 (32%) patients; group B--101 (68%) patients, respectively. Mean age was 58 ± 5.8 years and mean time of diabetes evolution was 7 ± 3.1 years. There were no significant differences between the groups regarding age, duration of diabetes evolution, hypertension, weight, heart rate, body mass index, and echocardiographic parameters. The E/e' ratio for group A was 8.05 ± 1.9 vs. 6.1 ± 1.7 for group B (p < 0.0001). The E/A ratio was 0.94 ± 0.10 vs. 1.19 ± 0.12 (p = 0.01), deceleration time 242 ± 7.4 ms vs. 205 ± 9 ms (p = 0.026) and systolic pulmonary artery pressure 27 ± ± 2.2 mm Hg vs. 22 ± 1.7 mm Hg (p = 0.11). CONCLUSIONS: Patients with type 2 diabetes and LTT have a higher E/e' ratio demonstrating a pre-clinical increase in LVF when compared to similar patients with normal testosterone levels. This finding is independent of time of diabetes evolution, hypertension and other echocardiographic parameters.

Las pseudocrisis: una propuesta diagnóstica / Value of the technique crisis induction in pseudocrisis diagnosis

Existen pacientes con sospecha de pseudocrisis, a los cuales se les indican maniobras de inducción de crisis en nuestro laboratorio; se describen los resultados obtenidos en dichas pruebas que fueron realizadas mediante la sugestión del paciente y el registro electroencefalográfico. Fueron estudiados 8 pacientes, en los que se analizó la positividad de la inducción de crisis y las anormalidades electroencefalográficas indicativas de epilepsia real. La edad media de los pacientes fue de 20,87 años con predominio del sexo femenino. Las crisis, que se iniciaban con la sugestión, fueron variadas, breves sin relajación de esfínteres, y cedían igualmente con sugestión. De los 8 pacientes estudiados 7 tuvieron electroencefalograma normal y solo 1 fue anormal. Por otra parte las maniobras fueron positivas en 6 pacientes, y en 2, resultaron negativas, de los cuales 1 paciente tuvo electroencefalograma normal y el otro anormal. Consideramos que este estudio constituye una ayuda al neurólogo en el difícil diagnóstico de la pseudocrisis, pues posibilita distinguirla de una posible crisis epiléptica real