Publications by authors named "S Kostaridou"
Article Synopsis
- Hemoglobinopathies like sickle cell disease and thalassemia lead to health complications, increasing infection risks, making vaccinations essential for patient care and quality of life.
- A nationwide survey in Greece assessed vaccination coverage and attitudes toward vaccination among patients with hemoglobinopathies using a 37-item anonymous questionnaire.
- Results showed that while childhood vaccination rates were generally in line with national standards, adult vaccination coverage was low for several key vaccines, particularly among individuals over 50 years, who also had more misconceptions about vaccinations.
Article Synopsis
- * Causes of hereditary dRTA involve mutations in specific genes that affect protein functions in kidney cells, which can also cause issues in other body parts, such as the inner ear.
- * The study presented includes a case of neonatal-onset dRTA, introduces two new gene variants, and highlights the need for more research on its renal and extrarenal complications and effective patient management.
Novel sonic hedgehog gene variant in a patient with hyponatremia, microsomia, and midline defects; phenotype description in association with a variant of unknown significance [c.755_757del p.(Phe252del)] and an approach to salt-wasting in SHH-related adrenal disorders.
Marita Antoniadi Dimitra Irinna Vitoratou Maria Marinou Olga Fafoula Fani Mylona Stavroula Kostaridou
J Pediatr Endocrinol Metab
June 2023
Objectives: To contribute a novel sonic hedgehog (SHH) gene variant in association with a novel-meagerly described phenotype and discuss SHH signaling pathway pathology.
Case Presentation: We present a 5-year-old boy with excessive hyponatremia and natriuresis, microform holoprosencephaly and microsomia, with morphologically intact hypothalamic-pituitary-adrenal (HPA) axis, and hypoaldosteronism, yet without hyperreninemia, hyperkalemia, dehydration episodes, or glucocorticoid insufficiency. Extensive workup excluded common causes of salt-wasting and revealed a novel variant of unknown significance on the sonic hedgehog (SHH) gene; NM_000193.