Publications by authors named "Noelia Rodriguez Mier"
This case report presents a 14-month-old boy with a history of cystic fibrosis (CF) carrier status, diagnosed following a positive newborn screening for CF (CF-NBS), who developed symptoms suggestive of Pseudo-Bartter syndrome (PBS). Despite initial evaluations not meeting CF diagnostic criteria, subsequent investigations revealed an intermediate sweat chloride concentration, a second CFTR mutation, and CFTR dysfunction through rectal organoid morphology analysis (ROMA) consistent with CFTR-related disorder (CFTR-RD). This case raises important considerations regarding the diagnosis and management of CFTR-RD.
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- The study aimed to explore the relationship between clinical features and pathogenic gene variants in patients with Primary Ciliary Dyskinesia (PCD).
- Conducted at the University Hospitals Leuven, it included 74 patients with genetically confirmed PCD, focusing on common genes like DNAH11 and DNAH5, and analyzing their genotype, ultrastructural data, and clinical characteristics.
- Findings indicated that certain clinical features differed significantly between patients with DNAH11 and DNAH5 variants, but other factors like lung function and microbiology did not show significant differences, suggesting some correlations exist in clinical characteristics based on genotypes.
Purpose: Oxidized LDL cholesterol (oxLDL) has been considered as a sensor of oxidative stress (OS) in childhood obesity. We integrated and related our oxLDL existing results previously assessed in overweight/obese children to lifestyle variables to investigate OS-related lifestyle variables.
Methods: 178 Caucasian children/adolescents have been evaluated and according to BMI percentiles have been classified as normal weight (BMI < 75th); overweight (BMI 75-97th) and obese (BMI > 97th).