Revista médica de Chile
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Revista médica de Chile · Sep 2021
[Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents].
Familial hypercholesterolemia (FH) is commonly associated with mutations in-LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). ⋯ Children and adolescents carrying mutations associated with FH were found by selective screening, which constitutes the first stage in the identification of genetic variants in our country.
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Revista médica de Chile · Sep 2021
[Yield of two mortality predictors in immunocompetent patients with community acquired pneumonia].
The severity of community acquired pneumonia (CAP) can be evaluated by the PSI and CURB-65 scales. However, it is unknown whether their predictive capacity varies according to the etiology of the disease. ⋯ The prognostic performance of PSI in CAP varies according to the causative agent in adults. It is higher in non-severe bacterial cases, and superior to CURB-65.
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Revista médica de Chile · Sep 2021
[Quality of life of older people with depression and dependence: validity of the SF-12 (short form health survey) questionnaire].
Depression and dependence have a great impact on the quality of life of older people. ⋯ The validity of the SF-12 for measuring HRQoL was demonstrated. People with depression and dependence have a worse physical and mental quality of life.
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Revista médica de Chile · Sep 2021
[Access of chilean deaf women to healthcare information and reproductive care].
The COVID-19 pandemic threatened the accessibility and response of healthcare systems worldwide. People with disabilities face specific access challenges to healthcare services and to healthcare information in accessible formats. ⋯ The pandemic generated a crisis in the Chilean healthcare system that demands a new strategy to ensure people's healthcare access. People with disabilities such as those herein studied are marginalized when these new policies are being discussed and implemented. Decision-makers and sexual and reproductive health services must improve their strategies to allow women with disabilities, particularly deaf women gain access.
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Revista médica de Chile · Sep 2021
[Disease genotype, haplotypes, diagnosis and associated studies in sickle cell anemia].
Sickle cell anemia is a type of hemoglobinopathy characterized by a specific mutation in the beta globin gene with the consequent generation of an unstable hemoglobin that crystallizes in a state of hypoxia. This causes a change in the structure of the red blood cell, which ends up producing vaso-occlusion with the corresponding clinical complications for the patient. ⋯ There are new therapeutic alternatives to the use of hydroxyurea and L-glutamine, such as the use of gene therapy tools. The most recent experimental trials are exploring gene editing techniques.