Biomedica : revista del Instituto Nacional de Salud最新文献

Introduction: Reports regarding the correlation and effect size of change of the full spectrum of quality of life and disease severity measures applied in-person to patients with atopic dermatitis are scarce.

Objectives: To assess quality-of-life with 3 different instruments and to evaluate disease severity indices and to determine their correlation and effect size of change between two measurements.

Materials and methods: Patient-level data were obtained through two in-person visits. Sociodemographic information and data related to disease distribution, severity (through the BSA, EASI, SCORAD, POEM, and itching scales), and the impact of atopic dermatitis on quality of life using the DLQI and Skindex-29, and EQ-5D, were assessed. The correlation between change in quality-of-life scores and disease severity scores in addition to the standardized effect size were also evaluated.

Results: Only 139 out of 212 patients completed the follow-up visit. BSA highly correlated with SCORAD and EASI, and the lowest correlation was found with POEM. The best correlation of pruritus VAS was found with sleep disturbance. The SCORAD score highly correlated with EASI, and the lowest correlation was found with POEM. The magnitude of the effect at initiation of the study vs follow-up was in average moderate to important.

Conclusions: Patients with atopic dermatitis experience a substantial burden on quality of life. Disease activity correlates better with quality-of-life measurements when the disease is less severe after starting therapy. POEM and Skindex-29 seem to be optimal to determine disease severity and quality of life in adults with atopic dermatitis.

Pheochromocytoma is a tumor derived from neural crest cells able to produce sympathomimetic substances and, hence, a particular clinical picture. It is responsiblefor less than 1% of high blood pressure cases, with an estimated incidence between 0.4 and 0.6 cases per 100,000 people each year, and an average survival of seven years. Pheochromocytoma is a solid tumor with a high genetic component, as heritability can reach 40%. Once diagnosed, its treatment and prognosis are partly conditioned by the associated pathogenic variants that can be documented, especially those related to RET, SDHx, VHL, and NF1 genes.We present the case of a young woman with abdominal pain and high blood pressure, who was found to have a pheochromocytoma. Genetic testing detected a rare and recently discovered pathogenic variant: the SDHA:c.1A>C (p.Met1Leu). The patient responded adequately to the surgical treatment and continued the follow-up without documented recurrences.The diagnostic approach for pheochromocytoma patients must start with a clinical suspicion, followed by metabolite measurement in blood and urine, and finally, imaging. Currently, technology development allows precision medicine applicability. In this case of pheochromocytoma, recent developments in precision medicine resulted in the detection of associated genetic components involving the patient and her family. Adequate screening of the index patient is required for documenting pathogenic variants and better characterizing the disease.

Introduction. Data in low- and middle-income countries on mortality and its related risk factors in patients with chronic obstructive pulmonary disease are limited.Objective. To identify the incidence of death and its relationship with variables in a Colombian population during 12 months of follow-up.Materials and methods. We carried out a retrospective study in subjects diagnosed with chronic obstructive pulmonary disease in a third-level hospital in Colombia. Odds ratios were calculated using multivariable logistic regression analysis with the outcome variable “mortality at 12 months”.Results. We included 524 patients, 18.1% (95 / 524) died. The average age was 69.7 (SD = 8.92), and 59.2% (310 / 524) were women. The variables associated with mortality were age (OR = 6.54; 95% CI = 3.65-11.36; p < 0.001), years of exposure to wood smoke (OR = 4.59; 95% CI = 1.64-2.82; p = 0.002), chronic heart failure (OR = 1.81; 95% CI = 1.13-2.91; p = 0.014), cerebrovascular disease (OR = 3.35; 95% CI = 1.04-10.75; p = 0.032), and chronic kidney disease (OR = 6.96; 95% CI = 1.15-41.67; p=0.015). When adjusting the variables in the multivariate analysis, only an association was found for sex (OR = 1.55; 95% CI = 0.95-2.54; p = 0.008) and age (OR = 5.94; 95% CI = 3.3-10.69; p < 0.001).Conclusion. Age, years of exposure to wood smoke, chronic heart failure, and cerebrovascular and chronic kidney disease were the clinical variables associated with a fatal outcome. However, age and sex were the only variables related to mortality when adjusted for confounding factors.

Introduction: Heart failure and type 2 diabetes mellitus are critical public health issues.

Objective: To characterize the risk factors for mortality in patients with heart failure and type 2 diabetes mellitus from a large registry in Colombia and to evaluate the potential effect modifications by type 2 diabetes mellitus over other risk factors.

Materials and methods: Heart failure patients with and without type 2 diabetes mellitus enrolled in the Registro Colombiano de Falla Cardíaca (RECOLFACA) were included. RECOLFACA enrolled adult patients with heart failure diagnosis from 60 medical centers in Colombia during 2017-2019. The primary outcome was all-cause mortality. Survival analysis was performed using adjusted Cox proportional hazard models.

Results: A total of 2514 patients were included, and the prevalence of type 2 diabetes mellitus was 24.7% (n = 620). We found seven independent predictors of short-term mortality for the general cohort, chronic obstructive pulmonary disease, sinus rhythm, triple therapy, nitrates use, statins use, anemia, and hyperkalemia. In the type 2 diabetes mellitus group, only the left ventricle diastolic diameter was an independent mortality predictor (HR = 0.96; 95% CI: 0.93-0.98). There was no evidence of effect modification by type 2 diabetes mellitus on the relationship between any independent predictors and all-cause mortality. However, a significant effect modification by type 2 diabetes mellitus between smoking and mortality was observed.

Conclusions: Patients with type 2 diabetes mellitus had higher mortality risk. Our results also suggest that type 2 diabetes mellitus diagnosis does not modify the effect of the independent risk factors for mortality in heart failure evaluated. However, type 2 diabetes mellitus significantly modify the risk relation between mortality and smoking in patients with heart failure.

Renal cystic diseases are common conditions whose etiology can be highly heterogeneous.They require a correct approach for adequate diagnosis and management. We aimed to illustrate part of the spectrum of renal cystic diseases through some clinical cases managed in our service.We describe 11 clinical cases including clinical entities such as renal multicystic dysplasia, and autosomal dominant and autosomal recessive polycystic renal disease, among other pathologies.Renal cystic diseases are heterogeneous in their clinical presentation, natural history, radiological findings, and genetic and pathophysiological basis. An integral clinical approach is needed to get a clear etiological diagnosis and offer adequate individualized care and follow-up for patients.

Introduction. Alterations in the quality and duration of sleep are risk factors for the development of arterial hypertension in Eastern countries. However, in Latin America there are few studies researching this association.Objective. To analyze the association between the quality and duration of sleep and the rate of arterial hypertension in a Colombian population.Materials and methods. An observational, longitudinal, prospective and analytical study nested in the INEFAC population-based cohort, was conducted with participants over 18 years of age from Bucaramanga (Colombia). Sleep quality was assessed using the Pittsburgh Sleep Quality Index. Sleep duration was assessed using standardized questions. Multivariate analysis was performed with logistic regression models adjusted for possible confounding variables.Results. A total of 1,306 non-hypertensive participants with a mean age of 40 ± 12 years were included. In this population, 92.8% had one or more sleep issues. 45.15% slept 6 hours or less and 28.6% slept 8 hours or more. Multivariate analysis showed a higher risk of hypertension in participants with diabetes (OR = 5.27; 95% CI: 2.27-12.26), obesity (OR = 2.81; 95% CI: 1.11-7.13), active smoking (OR = 2.02; 95% CI: 1.01-4.04) and higher socioeconomic level (OR = 4.94; 95% CI: 1.59-15.38 for level 4), but no higher risk was found in participants with poor sleep quality or short sleep duration.Conclusions. No association was found between the duration or quality of sleep and the rate of arterial hypertension in the Colombian population. More studies are required in this population to reach definitive conclusions.

Introduction: Choric obstructive pulmonary disease (COPD) is the third mortality cause in the world, and the development of useful diagnostic tools is necessary to improve timely diagnostic rates in primary care settings.

Objective: To develop a web application displaying spirometric and clinical information - including respiratory symptoms and risk factors- to facilitate a COPD diagnosis.

Materials and methods: In this cross-sectional study, an expert consensus was carried out with three specialists using the Delphi method to choose the relevant variables for COPD diagnosis. We developed a Python-based web application to diagnose COPD, displaying the clinical variables deemed relevant by the experts along the spirometric curve.

Results: Twenty-six clinical variables were included in the web application for the diagnosis of COPD. A fourth expert used the web application to classify a cohort of 695 patients who had undergone spirometry in a third-level centre and had answered at least one of five questionnaires for COPD screening. Out of the 695 subjects, 34% had COPD, according to the expert that diagnosed them using the web application. Only 42% of the patients in the COPD group had received a previous COPD diagnosis and 19% of the patients in the no COPD group had been misdiagnosed with the disease.

Conclusion: We developed a web application that displays demographic and clinical information, as well as spirometric data, to facilitate the process of diagnosing COPD in primary care settings.

Introduction: Cine-MRI (cine-magnetic resonance imaging) sequences are a key diagnostic tool to visualize anatomical information, allowing experts to localize and determine suspicious pathologies. Nonetheless, such analysis remains subjective and prone to diagnosis errors.

Objective: To develop a binary and multi-class classification considering various cardiac conditions using a spatiotemporal model that highlights kinematic movements to characterize each disease.

Materials and methods: This research focuses on a 3D convolutional representation to characterize cardiac kinematic patterns during the cardiac cycle, which may be associated with pathologies. The kinematic maps are obtained from the apparent velocity maps computed from a dense optical flow strategy. Then, a 3D convolutional scheme learns to differentiate pathologies from kinematic maps.

Results: The proposed strategy was validated with respect to the capability to discriminate among myocardial infarction, dilated cardiomyopathy, hypertrophic cardiomyopathy, abnormal right ventricle, and normal cardiac sequences. The proposed method achieves an average accuracy of 78.00% and a F1 score of 75.55%. Likewise, the approach achieved 92.31% accuracy for binary classification between pathologies and control cases.

Conclusion: The proposed method can support the identification of kinematically abnormal patterns associated with a pathological condition. The resultant descriptor, learned from the 3D convolutional net, preserves detailed spatiotemporal correlations and could emerge as possible digital biomarkers of cardiac diseases.