Long-Term Clinical-Pathologic Results of Enzyme Replacement Therapy in Prehypertrophic Fabry Disease Cardiomyopathy.

Background: The limited ability of enzyme replacement therapy (ERT) in removing globotriaosylceramide from cardiomyocytes is recognized for advanced Fabry disease cardiomyopathy (FDCM). Prehypertrophic FDCM is believed to be cured or stabilized by ERT. However, no pathologic confirmation is available.

School wellbeing and psychological characteristics of online learning in families of children with and without hearing loss during the Covid-19 pandemic.

This study investigated the psychological characteristics of online learning on Italian students with and without hearing loss (HL) and on their parents, who were forced into isolation during the Covid-19 pandemic. An online survey collected information on socio-demographic data and opinions concerning online learning from 61 children (mean age 11; 25 males, 36 females), including 43 with HL and also from their parents; additionally, school wellbeing and anxiety were assessed. The results showed that, in both the student and parent groups, no significant effect of HL on school wellbeing and anxiety was found.

Rare localization of tongue vascular lesion detected by multi-parametric magnetic resonance imaging.

Hemangiomas are developmental vascular abnormalities that are common in the head and neck (60%), rare in the oral cavity, and uncommon in the tongue. A patient performed a multi-parametric MRI, which characterized the lesion of his tongue, providing relevant information for diagnostic, therapeutic orientation, and realization of slight aggressive surgery with consequent excellent recovery.

c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.

We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with mutation. NGS analysis detected mutation in the patient's affected tissue allowing for PROS (PIK3CA-related overgrowth spectrum) diagnosis. The overlapping clinical features in overgrowth disorders highlight the importance of molecular testing for a correct diagnosis.