Publications by authors named "Patricia Gaspar-Silva"
Article Synopsis
- * A study comparing blood lipids and body measurements of 30 pediatric FH patients from pre-pandemic times to the post-lockdown period found no significant changes in their metabolic profiles, which was better than expected.
- * These findings suggest that education on healthy lifestyles may have mitigated negative impacts during lockdowns, but the small and diverse sample size indicates that more extensive research is needed to fully understand the effects on this group.
Metabolic Myopathies: Experience of a Reference Center of Inherited Metabolic Diseases.
Endocr Metab Immune Disord Drug Targets
October 2023
Article Synopsis
- Metabolic myopathies (MM) are genetic disorders that impact energy production pathways, leading to symptoms like exercise intolerance, muscle pain, and weakness, often diagnosed through clinical observation or screenings.
- A study reviewed 23 patients, revealing varied diagnoses, with glycogen storage diseases and fatty acid oxidation disorders being the most common, and symptoms frequently included fatigue, rhabdomyolysis, and exercise intolerance.
- Diagnosis was primarily confirmed through biochemical tests and genetic analysis, emphasizing the importance of clinical history in differentiating these disorders.
Background: Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across populations.
Methods: We performed a retrospective cross-sectional study of CF patients from the island of São Miguel (Azores, Portugal) through a clinical, genealogical, genetic and epidemiological investigation.