INTRODUCCIÓN: El Síndrome de apneas-hipopneas del sueño (SAHS) se caracteriza por la aparición de episodios recurrentes de limitación del flujo aéreo, provocados por alteraciones anatómico-funcionales de la vía aérea superior, que producen un colapso parcial o total de la misma durante el sueño. La importancia del diagnóstico del SAHS radica,...
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November 25, 2015 (v1)PublicationUploaded on: March 27, 2023
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October 1, 2020 (v1)Publication
Ever since the first studies, restoring proteinase imbalance in the lung has traditionally been considered as the main goal of alpha1 antitrypsin (AAT) replacement therapy. This strategy was therefore based on ensuring biochemical efficacy, identifying a protection threshold, and evaluating different dosage regimens. Subsequently, the...
Uploaded on: December 4, 2022 -
September 16, 2020 (v1)Publication
Despite recent notable innovations in the management of chronic obstructive pulmonary disease (COPD), no major advances in patient-centered medicine have been achieved. Current guidelines base their proposals on the average results from clinical trials, leading to what could be termed 'means-based' medical practice. However, the therapeutic...
Uploaded on: March 25, 2023 -
November 10, 2022 (v1)Publication
Background: The study of hematic concentrations of alpha1 antitrypsin (AAT) is currently one step in the diagnosis of AAT deficiency. To try to clarify the relevance of the laboratory techniques, we carried out a systematic review of the literature. Methods: Studies evaluating the quantification of AAT in peripheral blood were searched in...
Uploaded on: December 4, 2022 -
December 18, 2023 (v1)Publication
Study objectives This study tries to assess the endothelial function in vivo using flow-mediated dilatation (FMD) and several biomarkers of endothelium formation/restoration and damage in patients with obstructive sleep apnoea (OSA) syndrome at baseline and after three months with CPAP therapy. Design Observational study, before and after CPAP...
Uploaded on: December 20, 2023 -
July 2, 2019 (v1)Publication
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity. METHODS: We describe 18 patients...
Uploaded on: March 27, 2023 -
December 18, 2023 (v1)Publication
Study objectives Vascular damage must be diagnosed early in patients with hypertension. In this regard, endothelial dysfunction (ED) is an early sign of vascular disease and a predictor of cardiovascular diseases. In obstructive sleep apnea (OSA), intermittent hypoxia triggers ED, but mechanisms are not clear. In this context, it has been...
Uploaded on: December 20, 2023