We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We ...found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.
Introducción. La insuficiencia cardiaca aguda constituye la principal causa de ingreso hospitalario en los adultos mayores, e integra un síndrome complejo y potencialmente mortal que precisa de un ...tratamiento inmediato. En los últimos años, se ha demostrado un beneficio incremental con la terapia modificadora de la enfermedad, con un mayor impacto en mortalidad y en hospitalizaciones futuras en aquellos pacientes con un inicio temprano del manejo basado en la evidencia. Materiales y métodos. Estudio descriptivo tipo serie de casos, realizado en un centro hospitalario de Bogotá. Se incluyeron 115 pacientes mayores de 18 años con falla cardiaca aguda que ingresaron entre noviembre de 2022 y abril de 2023. Resultados. 89.5% de los pacientes con falla cardiaca descompensada requirieron diurético tipo ASA durante la hospitalización, con una dosis media de 80 mg, siendo la hipocaliemia la complicación encontrada en 29% de los individuos. Los betabloqueadores constituyeron el segundo medicamento de mayor uso durante la hospitalización y al egreso (65% y 91% respectivamente), seguidos de los antagonistas de receptores de mineralocorticoides de forma hospitalaria (62%), y de los inhibidores de SGLT2 al egreso (88%). Conclusiones. Los diuréticos de ASA representan el medicamento de mayor uso durante la hospitalización en los pacientes con insuficiencia cardiaca descompensada.
Introducción. La tuberculosis (TB) espinal o mal de Pott es una manifestación extrapulmonar poco frecuente. El diagnóstico puede ser tardío por la baja sospecha clínica, condicionando una alta carga ...de morbilidad. Presentamos el caso de un paciente inmunocompetente de 42 años, con sospecha inicial de proceso tumoral, posterior evidencia de TB torácica. Diseño: Estudio descriptivo reporte de caso. Resultados. Paciente masculino consulta por cuadro clínico de 8 meses de evolución consistente en dolor dorsal asociado a alteración de la sensibilidad y pérdida progresiva de la fuerza en miembros inferiores. Inicialmente, con resonancia de columna lumbar con evidencia de hernia discal a nivel de L4-L5. Presenta progresión del cuadro clínico hasta la limitación para la marcha, por lo cual reconsulta. Al examen neurológico de ingreso con paraparesia espástica, con nivel sensitivo en T12. Se realizó resonancia magnética de columna cervical y torácica, con hallazgo de lesión compresiva a nivel de T7 condicionando fractura patológica e invasión de canal espinal con compresión medular y signos de mielopatía. Valorado por neurocirugía con sospecha de compromiso metastásico con primario desconocido. Se inició esteroide intravenoso y se solicitaron otros estudios de extensión. Tomografía de tórax con masa en el lóbulo inferior izquierda; biopsia percutánea que reportó un granuloma tuberculoso necrotizante; con igual hallazgo en la biopsia de la lesión de T7 tomada durante la intervención neuroquirúrgica. Se confirmó diagnóstico histopatológico de tuberculosis vertebral, ademas de PCR para Mycobacterium Tuberculosa. Se inició tratamiento para TB, con mejoría neurológica. Conclusión. Sir Percival Pott, en 1779, reconoció la giba dorsal, el absceso y los trastornos neurológicos como una enfermedad del mismo origen etiológico, lo que se conoce como mal de Pott. La TB es una enfermedad endémica en donde es fundamental no olvidar las presentaciones extrapulmonares y la importancia de un tratamiento oportuno con el fin de impactar en la morbimortalidad.
Objective: There are differences in the prevalence and risk factors of asthma around the world. The epidemiological situation of adults 40 years and older is not well established. Our aim was to ...determine the prevalence, underdiagnosis and risk factors of asthma and wheezing in adults in Colombia. Methods: A cross-sectional, population-based study including 5539 subjects from 40 to 93 years selected by a probabilistic sampling technique in five cities was conducted. Measurements: respiratory symptoms and risk factors questionnaire and spirometry. Definitions: (a) Wheezing: Affirmative answer to the question "have you ever had two or more attacks of "wheezes" causing you to feel short of breath?" (b) Asthma: Wheezing definition and FEV
1
/FVC post-bronchodilator ≥ 70%. (c) Underdiagnosis: Asthma definition without a physician-diagnosis. Logistic regression was used for exploring risk factors. Results: Prevalence of asthma was 9.0% (95% CI: 8.3-9.8) and wheezing 11.9% (95% CI: 11.0-12.8). Asthma underdiagnosis was 69.9% and increased to 79.0% in subjects 64 years or older. The risk factors related to asthma and/or wheezing were: living in Bogota or Medellin, female gender, first degree relative with asthma, respiratory disease before 16 years of age, obesity, no education, indoor wood smoke exposure and occupational exposure to dust particles, gases or fumes. Conclusion: We described the epidemiologic situation of asthma in adults 40 years and older in Colombia. In addition to some recognized risk factors, our data supports the association of indoor wood smoke and occupational exposures with asthma and wheezing. Underdiagnosis of asthma in adults was high, particularly in older subjects.
Introduction:
High Flow Nasal Cannula (HFNC) is a novel technique for respiratory support that improves oxygenation. In some patients, it may reduce the work of breathing. In immunocompromised ...patients with Acute Respiratory Failure (ARF), Non-Invasive Ventilation (NIV) is the main support recommended strategy, since invasive mechanical ventilation could increase mortality rates. NIV used for more than 48 hours may be associated with increased in-hospital mortality and hospital length of stay. Therefore HFNC seems like a respiratory support alternative.
Objective:
To describe clinical outcomes of immunocompromised patients with ARF HFNC-supported.
Methods:
Retrospective study in patients admitted with ARF and HFNC-supported. 25 adult patients were included, 21 pharmacologically and 4 non- pharmacologically immunosuppressed. Median age of the patients was 64 60-76 years, APACHE II 15 11-19, and PaO2:FiO2 218 165-248. Demographic information, origin of immunosuppression, Respiratory Rate (RR), Heart Rate (HR), Mean Arterial Pressure (MAP), oxygen saturation (SpO
2
) and PaO
2
:FiO
2
ratio were extracted from clinical records of our HFNC local protocol. Data acquisition was performed before and after the first 24 hours of connection. In addition, the need for greater ventilatory support after HFNC, orotracheal intubation, in-hospital mortality and 90 days out-patients’ mortality was recorded.
Results:
Mean RR before the connection was 25±22 breaths/min and 22±4 breaths/min after the first 24 hours of HFNC use (95% CI; p=0.02). HR mean before connection to HFNC was 96±22 beats/min, and after, it was 86±15 beats/min (95%CI; p=0.008). Previous mean MAP was 86±15 mmHg, and after HFNC, it was 80±12 mmHg (95%CI; p=0.09); mean SpO
2
after was 93±5% and before it was 95±4% (95% CI; p=0.13); and previous PaO
2
:FiO
2
mean was 219±66, and after it was 324±110 (95%CI; p=0.52). In-hospital mortality was 28% and 90 days out-patients’ mortality was 32%.
Conclusion:
HFNC in immunosuppressed ARF subjects significantly decreases HR and RR, being apparently an effective alternative to decrease work of breathing. In-hospital mortality in ARF immunosuppressed patients was high even though respiratory support was used. Better studies are needed to define the role of HFNC-support in ARF.
El artículo presenta algunos planteamientos sobre el cine de ciencia ficción y la enseñanza de las ciencias, particularmente de la biología. Se problematizan de diferentes maneras las relaciones ...entre cine y enseñanza, así como entre lo vivo y la vida en el presente de cara hacia el futuro. Cuatro filmes de ciencia ficción se analizan desde una perspectiva filosófica. A partir de la experiencia de la autora, se ponen en diálogo los conceptos-imagen de las cintas, el impacto emocional y la inquietud, a través de una exploración visual que, más allá de complementar la palabra, busca provocar el pensamiento. Los filmes de ciencia ficción acerca del transhumanismo y de la extinción humana sugieren repensar, desde una mirada reflexiva, las relaciones que entablamos con nosotros mismos, con los otros y con el mundo que habitamos; en pocas palabras, nuestras maneras de proceder ante lo vivo y la vida, que no se agotan en los contenidos y competencias requeridas, sino que trascienden hacia la pretensión de traer a la escena de la enseñanza nuestro gesto ético como posibilidad de invención y elección.
The objective of the article was to establish the prevalence, underdiagnosis, and risk factors of chronic bronchitis (CB) in a general population in five Colombian cities. Cross-sectional study using ...a probabilistic sampling technique in five Colombian cities was adopted. The CB definition was “cough and expectoration for three or more months per year for at least two consecutive years.” Underdiagnosis was considered in subjects with clinical definition without previous medical diagnosis. Univariate χ
2 or Student’s t-test and logistic regression analysis were used. The study included 5539 subjects. The prevalence was 5.5%, the underdiagnosis 50.3%, and 33.7% of the cases were in nonsmokers (53.6% in women vs. 16.9% in men, p < 0.001). The adjusted risk factors were living in Bogota, current smoking, male, age ≥ 64 years, low education, indoor wood smoke exposure, and occupational exposure to vapors, gases, dust, and fumes. CB is a common disease among adults in Colombia. The underdiagnosis was high and there were a large proportion of cases in nonsmokers, particularly in women. Our findings support the association of CB with indoor wood smoke and occupational exposures.
Abstract
Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have ...shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas.
El presente trabajo tiene por objetivo presentar un modelo teórico y metodológico que permita abordar los procesos de formación en docencia universitaria desde una perspectiva teórica de orientación ...sociocultural. Esta considera al aprendizaje como una construcción social de significados y a la enseñanza como un proceso de ayuda planificada, sistemática y sostenida para dicha elaboración. En este contexto, es de especial relevancia proporcionar un modelo que permita la descripción y la comprensión de la organización de los diferentes componentes que debe incluir la formación en docencia universitaria, dados los distintos esfuerzos que realizan las universidades para ubicar en el centro de la actividad académica la enseñanza y el aprendizaje.
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