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
[Intensive chemotherapy with tyrosine kinase inhibitors in philadelphia-positive acute lymphoblastic leukemia].
Before the advent of tyrosine kinase inhibitors (TKIs), patients with Philadelphia-positive Acute Lymphoblastic Leukemia (Ph+ALL) had a poor prognosis. The association of TKIs to intensive chemotherapy (CT) improved outcome. ⋯ The prognosis of Ph+ALL improved with the association of imatinib to intensive CT. MRD-negative status before three months in this series was not significantly associated with better outcomes. Our series suggests that the Ph+ALL national protocol associated to TKI is a therapeutic alternative with high CR and aceptable MRD (-) rates.
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Creutzfeldt-Jakob disease (CJD) is a prion affection that typically produces a rapidly progressive dementia with different neurologic and extra-neurologic manifestations. ⋯ In this group of patients we observed the heterogeneity of the clinical manifestations of the disease, the frequent imaging and electroencephalographic alterations and the short evolution time leading to death.
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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
[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.