Publications by authors named "Ermanno Toniolli"
Article Synopsis
- Gaucher disease (GD) is a lysosomal disorder where glucosylceramide accumulates in macrophages, leading to symptoms like an enlarged spleen and liver, particularly in GD type 1.
- A 4-year-old boy diagnosed with GD type 1 through newborn screening showed osteonecrotic areas in his bones despite no initial symptoms, highlighting the importance of early diagnosis.
- Early enzyme replacement therapy (ERT) resulted in partial improvement of his bone issues, underlining the need for close monitoring of patients, especially when biomarkers indicate disease progression.
Challenges in the diagnosis of peripartum cardiomyopathy: a case series.
Eur Heart J Case Rep
February 2021
Article Synopsis
- Peripartum cardiomyopathy (PPCM) is a form of heart failure that can present in various ways, making diagnosis difficult.
- A case series of four patients with PPCM illustrated distinct presentations, including left ventricular dysfunction, thromboembolism, myocardial infarction with no coronary blockages, and sustained ventricular tachycardia.
- Timely clinical assessments and advanced imaging techniques are crucial for accurate diagnosis and treatment of PPCM.