Medicina
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The aim of this study was to extend our knowledge of the genetic background of Argentinean pediatric patients with developmental and epileptic encephalopathy (DEE) applying a next generation sequencing (NGS) panel. ⋯ Genetic diagnosis was made in 39% of patients. We emphasize the importance of considering mosaic variants, copy number variants and hereditary forms when designing and interpreting molecular studies, to optimize diagnosis and management of patients. Approximately 42% of the detected variants were novel, expanding the knowledge of the molecular basis of DEEs in Latin-American patients.
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Home mechanical ventilation in chronic respiratory failure improves quality of life and decreases hospitalizations. In order to know clinical characteristics, resource consumption and survival, we proposed an analysis of the vital trajectory during six years. ⋯ patients with home mechanical ventilation showed a reduction in the days of hospitalization after starting ventilation. Better survival was observed in COPD in relation to neuromuscular disease.
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Intestinal parasites have the greatest impact on child populations as they can, in the long term, lead to stunted growth with advances in cognitive development. The transmission of these parasites is favored by environments of social vulnerability. ⋯ This work constitutes the first survey on intestinal parasitoses in the District of Hurlingham and the socioeconomic and environmental context where it is developed.
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Unlike medications that contain fixed-dose combinations, such as those recommended by clinical guidelines for treating high blood pressure, the so-called polypills contain several drugs that simultaneously treat two or more cardiovascular conditions or risk factors. They were proposed 2 decades ago, both for primary and secondary prevention with the hypothesis that they could have wide dissemination and population penetration, improving the use of therapeutics with proven benefits individually, thanks to an increase in patient adherence by reducing the number of daily tablets and also by having an equal or lower cost. ⋯ Additionally, we review the clinical messages of the HOPE-3 trial, which aim to control two of the most prevalent conditions, such as high blood pressure and high cholesterol, through a combination of candesartan, hydrochlorothiazide and rosuvastatin. Finally, we propose its potential indication in a heterogeneous health system such as that of our country, both at the population level based on intermediate or low risk, determined intuitively or using a risk calculator, as well as in the personalized care that is practiced in many health scenarios.
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Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised is a basic tool for the evaluation of people with this disease. In our country, versions are used without the necessary methodological process to adapt them culturally and to be able to certify the plausibility of the data collected. It was our goal to generate an appropriate version adapted to Argentine Spanish. ⋯ The version obtained demonstrated its conceptual content validity regarding the English version, presenting not semantic nor pragmatic conflicts affecting their use in an Argentine population of ALS patients.