CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix

Abnormal development of the ocular anterior segment may lead to a spectrum of clinical phenotypes ranging from primary congenital glaucoma (PCG) to variable anterior segment dysgenesis (ASD). The main objective of this study was to identify the genetic alterations underlying recessive congenital glaucoma with ASD (CG-ASD). Next-generation DNA sequencing identified rare biallelic CPAMD8 variants in four patients with CG-ASD and in one case with PCG. CPAMD8 is a gene of unknown function and recently associated with ASD. Bioinformatic and in vitro functional evaluation of the variants using quantitative reverse transcription PCR and minigene analysis supported a loss-of-function pathogenic mechanism. Optical and electron microscopy of the trabeculectomy specimen from one of the CG-ASD cases revealed an abnormal anterior chamber angle, with altered extracellular matrix, and apoptotic trabecular meshwork cells. The CPAMD8 protein was immunodetected in adult human ocular fluids and anterior segment tissues involved in glaucoma and ASD (i.e., aqueous humor, non-pigmented ciliary epithelium, and iris muscles), as well as in periocular mesenchyme-like cells of zebrafish embryos. CRISPR/Cas9 disruption of this gene in F0 zebrafish embryos (96 hpf) resulted in varying degrees of gross developmental abnormalities, including microphthalmia, pharyngeal maldevelopment, and pericardial and periocular edemas. Optical and electron microscopy examination of these embryos showed iridocorneal angle hypoplasia (characterized by altered iris stroma cells, reduced anterior chamber, and collagen disorganized corneal stroma extracellular matrix), recapitulating some patients’ features. Our data support the notion that CPAMD8 loss-of-function underlies a spectrum of recessive CG-ASD phenotypes associated with extracellular matrix disorganization and provide new insights into the normal and disease roles of this gene

GEODIVULGAR: Geología y Sociedad

Fac. de Ciencias GeológicasFALSEsubmitte

Geodivulgar: Geología y Sociedad

Con el lema “Geología para todos” el proyecto Geodivulgar: Geología y Sociedad apuesta por la divulgación de la Geología a todo tipo de público, incidiendo en la importancia de realizar simultáneamente una acción de integración social entre estudiantes y profesores de centros universitarios, de enseñanza infantil, primaria, de educación especial y un acercamiento con público con diversidad funcional

Congreso Internacional de Responsabilidad Social Apuestas para el desarrollo regional.

Congreso Internacional de Responsabilidad Social: apuestas para el desarrollo regional [Edición 1 / Nov. 6 - 7: 2019 Bogotá D.C.]El Congreso Internacional de Responsabilidad Social “Apuestas para el Desarrollo Regional”, se llevó a cabo los días 6 y 7 de noviembre de 2019 en la ciudad de Bogotá D.C. como un evento académico e investigativo liderado por la Corporación Universitaria Minuto de Dios -UNIMINUTO – Rectoría Cundinamarca cuya pretensión fue el fomento de nuevos paradigmas, la divulgación de conocimiento renovado en torno a la Responsabilidad Social; finalidad adoptada institucionalmente como postura ética y política que impacta la docencia, la investigación y la proyección social, y cuyo propósito central es la promoción de una “sensibilización consciente y crítica ante las situaciones problemáticas, tanto de las comunidades como del país, al igual que la adquisición de unas competencias orientadas a la promoción y al compromiso con el desarrollo humano y social integral”. (UNIMINUTO, 2014). Dicha postura, de conciencia crítica y sensibilización social, sumada a la experiencia adquirida mediante el trabajo articulado con otras instituciones de índole académico y de forma directa con las comunidades, permitió establecer como objetivo central del evento la reflexión de los diferentes grupos de interés, la gestión de sus impactos como elementos puntuales que contribuyeron en la audiencia a la toma de conciencia frente al papel que se debe asumir a favor de la responsabilidad social como aporte seguro al desarrollo regional y a su vez al fortalecimiento de los Objetivos de Desarrollo Sostenible

Congreso Internacional de Responsabilidad Social Apuestas para el desarrollo regional.

Congreso Internacional de Responsabilidad Social: apuestas para el desarrollo regional [Edición 1 / Nov. 6 - 7: 2019 Bogotá D.C.]El Congreso Internacional de Responsabilidad Social “Apuestas para el Desarrollo Regional”, se llevó a cabo los días 6 y 7 de noviembre de 2019 en la ciudad de Bogotá D.C. como un evento académico e investigativo liderado por la Corporación Universitaria Minuto de Dios -UNIMINUTO – Rectoría Cundinamarca cuya pretensión fue el fomento de nuevos paradigmas, la divulgación de conocimiento renovado en torno a la Responsabilidad Social; finalidad adoptada institucionalmente como postura ética y política que impacta la docencia, la investigación y la proyección social, y cuyo propósito central es la promoción de una “sensibilización consciente y crítica ante las situaciones problemáticas, tanto de las comunidades como del país, al igual que la adquisición de unas competencias orientadas a la promoción y al compromiso con el desarrollo humano y social integral”. (UNIMINUTO, 2014). Dicha postura, de conciencia crítica y sensibilización social, sumada a la experiencia adquirida mediante el trabajo articulado con otras instituciones de índole académico y de forma directa con las comunidades, permitió establecer como objetivo central del evento la reflexión de los diferentes grupos de interés, la gestión de sus impactos como elementos puntuales que contribuyeron en la audiencia a la toma de conciencia frente al papel que se debe asumir a favor de la responsabilidad social como aporte seguro al desarrollo regional y a su vez al fortalecimiento de los Objetivos de Desarrollo Sostenible

Canagliflozin and renal outcomes in type 2 diabetes and nephropathy

BACKGROUND Type 2 diabetes mellitus is the leading cause of kidney failure worldwide, but few effective long-term treatments are available. In cardiovascular trials of inhibitors of sodium–glucose cotransporter 2 (SGLT2), exploratory results have suggested that such drugs may improve renal outcomes in patients with type 2 diabetes. METHODS In this double-blind, randomized trial, we assigned patients with type 2 diabetes and albuminuric chronic kidney disease to receive canagliflozin, an oral SGLT2 inhibitor, at a dose of 100 mg daily or placebo. All the patients had an estimated glomerular filtration rate (GFR) of 30 to <90 ml per minute per 1.73 m2 of body-surface area and albuminuria (ratio of albumin [mg] to creatinine [g], >300 to 5000) and were treated with renin–angiotensin system blockade. The primary outcome was a composite of end-stage kidney disease (dialysis, transplantation, or a sustained estimated GFR of <15 ml per minute per 1.73 m2), a doubling of the serum creatinine level, or death from renal or cardiovascular causes. Prespecified secondary outcomes were tested hierarchically. RESULTS The trial was stopped early after a planned interim analysis on the recommendation of the data and safety monitoring committee. At that time, 4401 patients had undergone randomization, with a median follow-up of 2.62 years. The relative risk of the primary outcome was 30% lower in the canagliflozin group than in the placebo group, with event rates of 43.2 and 61.2 per 1000 patient-years, respectively (hazard ratio, 0.70; 95% confidence interval [CI], 0.59 to 0.82; P=0.00001). The relative risk of the renal-specific composite of end-stage kidney disease, a doubling of the creatinine level, or death from renal causes was lower by 34% (hazard ratio, 0.66; 95% CI, 0.53 to 0.81; P<0.001), and the relative risk of end-stage kidney disease was lower by 32% (hazard ratio, 0.68; 95% CI, 0.54 to 0.86; P=0.002). The canagliflozin group also had a lower risk of cardiovascular death, myocardial infarction, or stroke (hazard ratio, 0.80; 95% CI, 0.67 to 0.95; P=0.01) and hospitalization for heart failure (hazard ratio, 0.61; 95% CI, 0.47 to 0.80; P<0.001). There were no significant differences in rates of amputation or fracture. CONCLUSIONS In patients with type 2 diabetes and kidney disease, the risk of kidney failure and cardiovascular events was lower in the canagliflozin group than in the placebo group at a median follow-up of 2.62 years

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Correction to: Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

The original version of this article unfortunately contained a mistake

Prevalence, associated factors and outcomes of pressure injuries in adult intensive care unit patients: the DecubICUs study

Funder: European Society of Intensive Care Medicine; doi: http://dx.doi.org/10.13039/501100013347Funder: Flemish Society for Critical Care NursesAbstract: Purpose: Intensive care unit (ICU) patients are particularly susceptible to developing pressure injuries. Epidemiologic data is however unavailable. We aimed to provide an international picture of the extent of pressure injuries and factors associated with ICU-acquired pressure injuries in adult ICU patients. Methods: International 1-day point-prevalence study; follow-up for outcome assessment until hospital discharge (maximum 12 weeks). Factors associated with ICU-acquired pressure injury and hospital mortality were assessed by generalised linear mixed-effects regression analysis. Results: Data from 13,254 patients in 1117 ICUs (90 countries) revealed 6747 pressure injuries; 3997 (59.2%) were ICU-acquired. Overall prevalence was 26.6% (95% confidence interval [CI] 25.9–27.3). ICU-acquired prevalence was 16.2% (95% CI 15.6–16.8). Sacrum (37%) and heels (19.5%) were most affected. Factors independently associated with ICU-acquired pressure injuries were older age, male sex, being underweight, emergency surgery, higher Simplified Acute Physiology Score II, Braden score 3 days, comorbidities (chronic obstructive pulmonary disease, immunodeficiency), organ support (renal replacement, mechanical ventilation on ICU admission), and being in a low or lower-middle income-economy. Gradually increasing associations with mortality were identified for increasing severity of pressure injury: stage I (odds ratio [OR] 1.5; 95% CI 1.2–1.8), stage II (OR 1.6; 95% CI 1.4–1.9), and stage III or worse (OR 2.8; 95% CI 2.3–3.3). Conclusion: Pressure injuries are common in adult ICU patients. ICU-acquired pressure injuries are associated with mainly intrinsic factors and mortality. Optimal care standards, increased awareness, appropriate resource allocation, and further research into optimal prevention are pivotal to tackle this important patient safety threat

Comportamiento y salud de los jóvenes universitarios: satisfacción con el estilo de vida

The purpose of this study was to describe behaviors that form part of the life-style of young college students in 10 dimensions: exercise and physical activity, leisure time, self-care and medical care, diet, alcohol, tobacco and illegal drug consumption, sleep, sexuality, interpersonal relationships, coping and perceived emotional state, and their satisfaction with each. 598 students participated (44.7% men and 55.3% women) from a private university in the southwest of Colombia, who answered the College Youth Lifestyle Questionnaire (Cevju). The results show a high prevalence of healthy practices in all dimensions, except for exercise and physical activity, and satisfaction with lifestyle and general health status. There was coherence between the level of satisfaction and practices (healthy or unhealthy), and this relationship was analyzed following the guidelines of the stages of change model. Finally, some ideas are presented for consideration, with the idea of creating intervention programs aimed at promoting positive health behaviors and preventing those that adversely affect health.O objetivo deste trabalho foi descrever os comportamentos que fazem parte dos estilos de vida dos jovens universitários, em dez dimensões: Exercício e atividade física, Tempo de ócio, Cuidado e cuidado médico, Alimentação, Consumo de álcool, Tabaco e drogas ilegais, Sonho, Sexualidade, Relações interpessoais Enfrentamento e Estado emocional percebido, e seu correspondente grau de satisfação com ditas práticas. Participaram 598 estudantes (44,7% homens e 55,3% mulheres) de uma universidade privada do sudoeste colombiano, que diligenciaram o �Cuestionario de estilos de vida en jóvenes universitarios� (Cevju). Os resultados obtidos mostram um predomínio de práticas saudáveis em todas as dimensões com exceção de Exercício e atividade física, e alta satisfação com o estilo de vida e o estado geral de saúde. Houve coerência entre o nível de satisfação com o tipo de práticas realizadas (saudáveis ou não saudáveis) e esta relação foi analisada seguindo os lineamientos do modelo de períodos de mudança. Finalmente, foram propostos alguns aspectos relevantes de análise para a criação de programas de intervenção que se orientem para a promoção de um maior número de condutas positivas para a saúde e para a diminuição daquelas que possam deteriorá-la.El objetivo de este trabajo fue describir los comportamientos que hacen parte de los estilos de vida de los jóvenes universitarios, en diez dimensiones: ejercicio y actividad física, tiempo de ocio, autocuidado y cuidado médico, alimentación, consumo de alcohol, tabaco y drogas ilegales, sueño, sexualidad, relaciones interpersonales, afrontamiento y estado emocional percibido, y su correspondiente grado de satisfacción con dichas prácticas. Participaron 598 estudiantes (44,7% hombres y 55,3% mujeres) de una universidad privada de Colombia, quienes diligenciaron el �Cuestionario de estilos de vida en jóvenes universitarios� (Cevju). Los resultados obtenidos muestran un predominio de prácticas saludables en todas las dimensiones, con excepción de ejercicio y actividad física y alta satisfacción con el estilo de vida y el estado general de salud. Hubo coherencia entre el nivel de satisfacción con el tipo de prácticas realizadas, y esta relación fue analizada siguiendo los lineamientos del modelo de etapas de cambio. Finalmente, se propusieron algunos aspectos relevantes para la creación de programas de intervención que se orienten a la promoción de un mayor número de conductas positivas para la salud y a la disminución de aquellas que puedan deteriorarla