Publications by authors named "C M FOSSATI"
Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency.
View Article and Find Full Text PDFCardiovascular (CV) disease remains the leading cause of morbidity and mortality worldwide, highlighting the necessity of understanding its underlying molecular and pathophysiological pathways. Conversely, physical activity (PA) and exercise are key strategies in reducing CV event risks. Detecting latent CV conditions in apparently healthy individuals, such as athletes, presents a unique challenge.
View Article and Find Full Text PDFIntroduction: Down syndrome (DS) is linked to unique hematopoietic characteristics that affect complete blood count (CBC) parameters. Accurate reference ranges are essential for proper CBC interpretation in this population.
Methods: This retrospective study analyzed 2,627 CBCs from 481 DS patients, aged 31 days to 18 years, at a tertiary care center in Italy.
Article Synopsis
- Cutaneous sclerosis is a condition where there is an abnormal increase of dermal or hypodermal elements, leading to skin thickening and hardening.
- It is commonly linked with systemic sclerosis but can also appear in various lesser-known syndromes that show a wide range of symptoms.
- The article discusses the causes, symptoms, and potential treatment options for these rare skin conditions.
Article Synopsis
- Athletes often show changes in their electrocardiograms (ECGs) due to heart adaptations from regular training, known as the athlete's heart, but these changes can sometimes mimic heart disease signs.
- Misdiagnosis can lead to serious consequences, including sudden cardiac death, which is a major risk for young athletes.
- This review aims to help cardiologists and sports doctors differentiate between normal exercise-related ECG changes and those indicating potential heart problems, guiding further investigations when needed.