Sex- differences in alpha-1 antitrypsin deficiency:Data from the EARCO Registry

Background: Sex and gender influence many aspects of chronic obstructive pulmonary disease (COPD). Limited data are available on this topic in alpha-1 antitrypsin deficiency (AATD). We therefore aimed to investigate sex issues in the EARCO registry, a prospective, international, observational cohort study.Methods: Baseline data from PiZZ individuals, enrolled in the registry with complete data on sex and smoking history were analysed by group comparisons and binary logistic regression analyses.Results: 1283 patients with AATD, 49.3% women were analysed. Females reported less tobacco consumption (16.8 ± 12.2 vs. 19.6 ± 14.5 PY, p = 0.006), occupational exposures towards gases, dusts or asbestos (p < 0.005 each) and consumed less alcohol (5.5 ± 7.6 vs. 8.4 ± 10.3 u/week, p < 0.001). Females reported COPD (41% vs. 57%, p < 0.001) and liver disease (11% vs. 20%, p < 0.001) less often. However, they had a higher prevalence of bronchiectasis (24% vs. 13%, p < 0.001). Despite better lung function (FEV1%pred. 73.6 ± 29.9 vs. 62.7 ± 29.5, p < 0.001) females reported a similar symptom burden (CAT 13.4 ± 9.5 vs. 12.5 ± 8.9, p = ns) and exacerbation frequency (at least one in the previous year 30% vs. 26%, p = ns) compared to males. In multivariate analyses, female sex was an independent risk factor for exacerbations in the previous year OR 1.6 p = 0.001 in addition to smoking history, COPD, asthma and bronchiectasis and was also identified as risk factors for symptom burden (CAT ≥ 10) OR 1.4 p = 0.014 besides age, BMI, COPD and smoking history.Conclusion: Men had higher rates of COPD and liver disease, women were more likely to have bronchiectasis. Women's higher symptom burden and exacerbation frequency suggest they may need tailored treatment approaches

Integrated flow cytometry and sequencing to reconstruct evolutionary patterns from dysplasia to acute myeloid leukemia

Clonal evolution in acute myeloid leukemia (AML) originates long before diagnosis and is a dynamic process that may affect survival. However, it remains uninvestigated during routine diagnostic workups. We hypothesized that the mutational status of bone marrow dysplastic cells and leukemic blasts, analyzed at the onset of AML using integrated multidimensional flow cytometry (MFC) immunophenotyping and fluorescence-activated cell sorting (FACS) with next-generation sequencing (NGS), could reconstruct leukemogenesis. Dysplastic cells were detected by MFC in 285 of 348 (82%) newly diagnosed patients with AML. Presence of dysplasia according to MFC and World Health Organization criteria had no prognostic value in older adults. NGS of dysplastic cells and blasts isolated at diagnosis identified 3 evolutionary patterns: stable (n = 12 of 21), branching (n = 4 of 21), and clonal evolution (n = 5 of 21). In patients achieving complete response (CR), integrated MFC and FACS with NGS showed persistent measurable residual disease (MRD) in phenotypically normal cell types, as well as the acquisition of genetic traits associated with treatment resistance. Furthermore, whole-exome sequencing of dysplastic and leukemic cells at diagnosis and of MRD uncovered different clonal involvement in dysplastic myelo-erythropoiesis, leukemic transformation, and chemoresistance. Altogether, we showed that it is possible to reconstruct leukemogenesis in ∼80% of patients with newly diagnosed AML, using techniques other than single-cell multiomics.This work was supported by grants from the Área de Oncología del Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red (CIBER-ONC) (CB16/12/00369, CB16/12/00233, CB16/12/00489, and CB16/12/00284), Instituto de Salud Carlos III/Subdirección General de Investigación Sanitaria (FIS numbers PI16/01661, PI16/00517, and PI19/01518), and the Plan de Investigación de la Universidad de Navarra (PIUNA 2014-18). This work was supported internationally by the Cancer Research UK, FCAECC, and AIRC under the Accelerator Award Program (EDITOR)

RICORS2040 : The need for collaborative research in chronic kidney disease

Chronic kidney disease (CKD) is a silent and poorly known killer. The current concept of CKD is relatively young and uptake by the public, physicians and health authorities is not widespread. Physicians still confuse CKD with chronic kidney insufficiency or failure. For the wider public and health authorities, CKD evokes kidney replacement therapy (KRT). In Spain, the prevalence of KRT is 0.13%. Thus health authorities may consider CKD a non-issue: very few persons eventually need KRT and, for those in whom kidneys fail, the problem is 'solved' by dialysis or kidney transplantation. However, KRT is the tip of the iceberg in the burden of CKD. The main burden of CKD is accelerated ageing and premature death. The cut-off points for kidney function and kidney damage indexes that define CKD also mark an increased risk for all-cause premature death. CKD is the most prevalent risk factor for lethal coronavirus disease 2019 (COVID-19) and the factor that most increases the risk of death in COVID-19, after old age. Men and women undergoing KRT still have an annual mortality that is 10- to 100-fold higher than similar-age peers, and life expectancy is shortened by ~40 years for young persons on dialysis and by 15 years for young persons with a functioning kidney graft. CKD is expected to become the fifth greatest global cause of death by 2040 and the second greatest cause of death in Spain before the end of the century, a time when one in four Spaniards will have CKD. However, by 2022, CKD will become the only top-15 global predicted cause of death that is not supported by a dedicated well-funded Centres for Biomedical Research (CIBER) network structure in Spain. Realizing the underestimation of the CKD burden of disease by health authorities, the Decade of the Kidney initiative for 2020-2030 was launched by the American Association of Kidney Patients and the European Kidney Health Alliance. Leading Spanish kidney researchers grouped in the kidney collaborative research network Red de Investigación Renal have now applied for the Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORS) call for collaborative research in Spain with the support of the Spanish Society of Nephrology, Federación Nacional de Asociaciones para la Lucha Contra las Enfermedades del Riñón and ONT: RICORS2040 aims to prevent the dire predictions for the global 2040 burden of CKD from becoming true

Manual de simulación clínica en especialidades médicas

Manual sobre técnicas y modos de simulación clínica en diversas especialidades médicas.La enseñanza y formación en medicina necesita el uso de la simulación. Existen evidencias de su uso desde hace cientos de años, pero, en los últimos años se ha incrementado y diseminado. La simulación clínica está validada científicamente en múltiples contextos médicos y de otras áreas profesionales de la salud. Y es considerada de gran importancia como proceso de entrenamiento y de mejora de las competencias y adquisición de habilidades médicas en campos que incluye desde la historia clínica, comunicación con el paciente, exploración, diagnóstico terapéutica médica-farmacológica y quirúrgica y seguridad al tratar al paciente. Hoy en día, para muchas técnicas y situaciones clínicas es inaceptable llegar junto a los pacientes sin un dominio adquirido en simulación. La simulación puede ocurrir sin el uso de recursos adicionales, solo las personas, o utilizando pocos o muchos recursos de baja hasta alta tecnología y se puede adaptar a los recursos disponibles, abarcando todas las áreas de conocimiento, y dentro de ellas competencias técnicas o actitudes, solas o en conjunto. El uso racional y basado en evidencia de la simulación es de la mayor importancia por la necesidad de una mayor efectividad y eficiencia en la transformación de los profesionales de la salud para que puedan mejorar su capacidad de atender a los pacientes. La simulación es también una buena herramienta de evaluación de competencias y habilidades en Medicina y otras disciplinas de las Ciencias de la Salud Este manual incluye técnicas y modos de simulación clínica en diversas especialidades médicas, útiles, para quien busque un manual práctico y actualizado.Cátedra de Mecenazgo de la Universidad de Málaga. Cátedra de Terapias Avanzadas en Patología Cardiovascular Cátedra de Mecenazgo de la Universidad de Málaga. Cátedra de Investigación Biomédica Quirón Salu

All-cause mortality in the cohorts of the Spanish AIDS Research Network (RIS) compared with the general population: 1997Ł2010

Abstract Background: Combination antiretroviral therapy (cART) has produced significant changes in mortality of HIVinfected persons. Our objective was to estimate mortality rates, standardized mortality ratios and excess mortality rates of cohorts of the AIDS Research Network (RIS) (CoRIS-MD and CoRIS) compared to the general population. Methods: We analysed data of CoRIS-MD and CoRIS cohorts from 1997 to 2010. We calculated: (i) all-cause mortality rates, (ii) standardized mortality ratio (SMR) and (iii) excess mortality rates for both cohort for 100 personyears (py) of follow-up, comparing all-cause mortality with that of the general population of similar age and gender. Results: Between 1997 and 2010, 8,214 HIV positive subjects were included, 2,453 (29.9%) in CoRIS-MD and 5,761 (70.1%) in CoRIS and 294 deaths were registered. All-cause mortality rate was 1.02 (95% CI 0.91-1.15) per 100 py, SMR was 6.8 (95% CI 5.9-7.9) and excess mortality rate was 0.8 (95% CI 0.7-0.9) per 100 py. Mortality was higher in patients with AIDS, hepatitis C virus (HCV) co-infection, and those from CoRIS-MD cohort (1997. Conclusion: Mortality among HIV-positive persons remains higher than that of the general population of similar age and sex, with significant differences depending on the history of AIDS or HCV coinfection

Çédille, revista de estudios franceses

Presentació

Dietary α‐Linolenic Acid, Marine ω‐3 Fatty Acids, and Mortality in a Population With High Fish Consumption: Findings From the PREvención con DIeta MEDiterránea (PREDIMED) Study

Background: Epidemiological evidence suggests a cardioprotective role of α‐linolenic acid (ALA), a plant‐derived ω‐3 fatty acid. It is unclear whether ALA is beneficial in a background of high marine ω‐3 fatty acids (long‐chain n‐3 polyunsaturated fatty acids) intake. In persons at high cardiovascular risk from Spain, a country in which fish consumption is customarily high, we investigated whether meeting the International Society for the Study of Fatty Acids and Lipids recommendation for dietary ALA (0.7% of total energy) at baseline was related to all‐cause and cardiovascular disease mortality. We also examined the effect of meeting the society's recommendation for long‐chain n‐3 polyunsaturated fatty acids (≥500 mg/day). Methods and Results: We longitudinally evaluated 7202 participants in the PREvención con DIeta MEDiterránea (PREDIMED) trial. Multivariable‐adjusted Cox regression models were fitted to estimate hazard ratios. ALA intake correlated to walnut consumption (r=0.94). During a 5.9‐y follow‐up, 431 deaths occurred (104 cardiovascular disease, 55 coronary heart disease, 32 sudden cardiac death, 25 stroke). The hazard ratios for meeting ALA recommendation (n=1615, 22.4%) were 0.72 (95% CI 0.56–0.92) for all‐cause mortality and 0.95 (95% CI 0.58–1.57) for fatal cardiovascular disease. The hazard ratios for meeting the recommendation for long‐chain n‐3 polyunsaturated fatty acids (n=5452, 75.7%) were 0.84 (95% CI 0.67–1.05) for all‐cause mortality, 0.61 (95% CI 0.39–0.96) for fatal cardiovascular disease, 0.54 (95% CI 0.29–0.99) for fatal coronary heart disease, and 0.49 (95% CI 0.22–1.01) for sudden cardiac death. The highest reduction in all‐cause mortality occurred in participants meeting both recommendations (hazard ratio 0.63 [95% CI 0.45–0.87]). Conclusions: In participants without prior cardiovascular disease and high fish consumption, dietary ALA, supplied mainly by walnuts and olive oil, relates inversely to all‐cause mortality, whereas protection from cardiac mortality is limited to fish‐derived long‐chain n‐3 polyunsaturated fatty acids. Clinical Trial Registration URL: http://www.Controlled-trials.com/. Unique identifier: ISRCTN35739639

Valoración multidisciplinar del pie diabético

Las clasificaciones convencionales del pie diabético, entre ellas la Clasificación de Wagner no contemplan los criterios de isquemia, neuropatía e infección, pilares que sustentan la etiopatogenia de este síndrome. Con la Clasificación Modificada de Wagner (CMW), se matiza de forma clara el estadío y características de la lesión, incorporando a la descripción anatómica de forma gráfica (letras en mayúscula o en minúscula) los citados pilares (infección, neuropatía e isquemia). Así no solo se iguala el lenguaje para evitar errores de interpretación, sino que se orienta en con solo un número y una letra hacia el pronóstico y criterios de tratamiento. Mediante una revisión se comparan los casos recibidos antes y después del uso de la CMW, por dos grupos distintos de profesionales, siendo catalogados por los mismos guarismos en un alto porcentaje. De este modo se valida la Clasificación Modificada de Wagner. Por ello, se recomienda su difusión y empleo generalizado para el manejo del pie diabético. Abstract: Conventional classifications for diabetic foot, among them, Wagner Classification, do not contemplate the criteria or sichemia, neuropathy and infection, pillars that sustain the etiopathogy of this syndrome. With Modified Wagner Classification (MWC), there are cleary defined the phase and characteristics of the wound, incorporatin into the anatomical description by a graphical way (letters in capital letter or small one) the mentioned props (infection, neuropathy and ischemia). In this way not only the language is equal (comes to an agreement) to avoid interpretation mistakes, but also it is orientated by just one number and a letter towards a prognosis and treatment criteria. Cases received before and after the use of the MWC are compared perfoming a review, by two different professional groups, being catalogued by the same numbers in a high percentage. That is why we recommend its diffusion and generalized the employment for the managing of the diabetic foot. Centro de Trabajo: (1-6) Hospital Comarcal de la Axarquía. Bloque Quirúrgico. Vélez-Málaga (Málaga, España) Fecha del Trabajo: 04/10/2009 Palabra Clave: Pie diabético, Clasificación del Pie Diabético, Oxigenación Hiperbárica, Neuropatías Diabéticas, Diabetes. Key Words: Diabetic foot, Diabetic Foot Classification, Hyperbaric Oxigenation, Diabetic Neuropathies, Diabetes

Multidisciplinary valuation of the diabetic foot

Conventional classifications for diabetic foot, among them, Wagner Classification, do not contemplate the criteria or sichemia, neuropathy and infection, pillars that sustain the etiopathogy of this syndrome. With Modified Wagner Classification (MWC), there are cleary defined the phase and characteristics of the wound, incorporatin into the anatomical description by a graphical way (letters in capital letter or small one) the mentioned props (infection, neuropathy and ischemia). In this way not only the language is equal (comes to an agreement) to avoid interpretation mistakes, but also it is orientated by just one number and a letter towards a prognosis and treatment criteria. Cases received before and after the use of the MWC are compared perfoming a review, by two different professional groups, being catalogued by the same numbers in a high percentage. That is why we recommend its diffusion and generalized the employment for the managing of the diabetic foot