0000000000850885
AUTHOR
Silvia Castillo Corullón
Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia
Background: Primary ciliary dyskinesia (PCD) is a disease characterized by an alteration in the ciliary structure that causes an abnormal clearance of respiratory secretions. Its diagnosis is complex and is based on a combination of different techniques. The objective of this study was to design a gene panel including all known caustive genes, and to verify the utility for diagnostic in a cohort of Spanish patients. Methods: Multicenter cross-sectional study of patients with high suspicion of PCD, applying the criteria of the European Respiratory Society. Design a gene panel for mass sequencing with SeqCap EZ technology, including 44 PCD-related genes. Results: 79 patients were included, 53…
Estudio de la utilidad clínica del perfil de estrés oxidativo en pacientes con déficit de alfa-1 antitripsina
Introducción: Investigaciones recientes en modelos animales sugieren la participación del estrés oxidativo y el daño de oxidativo en la patogénesis del déficit de alfa 1 antitripsina (DAAT). Sin embargo, no hay datos disponibles sobre el estado de estrés oxidativo y la actividad de los enzimas antioxidantes en estos pacientes. Se sabe que el estrés oxidativo está implicado en la patogénesis de enfermedades en otros organismos (aterosclesosis, enfermedades neurodegenerativas, diabetes mellitus, enfermedades reumáticas, etc). También que el tabaco es un importante oxidante, disminuyendo la afinidad de la alfa-1 antitripsina, principal antiproteasa del organismo, por la elastasa del neutrófilo…
Adaptation to Disease and Anxiety-Depressive Clinic in the Paediatric Patient with Primary Ciliary Dyskinesia
Introduction: Primary ciliary dyskinesia is a rare, autosomal recessive disease of low prevalence in paediatrics. Studies in psychology have not analysed the role of family-psychological variables in rare diseases such as primary ciliary dyskinesia. Objectives: this study aims to analyse the presence of clinical anxiety-depressive and perception threat of disease in patients with dyskinesia and evaluate the adaptation to the disease. Material-Methods: All patients with primary ciliary dyskinesia (9 to 18 years of age), attended in the Infantile Pneumology Unit of HCUV, from July 2015 to January 2019, who accepted to complete the Anxiety Depression (HADS) and Perception of Disease Threat (BI…