No abstract

NIV is feasible and well tolerated by children with OSA associated with complex disorders, and has been shown to have few complications even in infants and toddlers.

Pycnodysostosis is a rare genetic disease. Impaired osteoclastic function is the basis for typical phenotypic features and bone fragility. The main differential diagnosis is osteopetrosis, also associated with altered bone remodelling, but with a more severe prognosis. We describe the case of an 8-year-old boy who presented life-threatening obstructive sleep apnoea successfully managed with non-invasive ventilation. Haematological overlap phenotype included anaemia and altered bone marrow, more common in osteopetrosis. Molecular analysis of the CTSK gene revealed a mutation not previously described in the literature.

No abstract

While mRNA vaccines authorised for emergency use are administrated worldwide in an effort to contain the COVID19 crisis, little is known about the heterogeneity of the immune response they induce. Here, we report the first 6 weeks of a longitudinal study that quantifies the humoral immune response to BNT162b2 mRNA COVID-19 (Pfizer/BioNTech, Comirnaty) in 1245 health care providers, the Lx1000HCW-PZF cohort. We reveal a striking inter-individual variation 3 weeks after the 1st dose administration that only in part related to age and sex. While population homogeneity in robust IgG responses was reached upon 2nd dose administration, IgM and IgA levels remain low and heterogenous. Our findings of isotypic and heterogenous antibody responses to Comirnaty highlight the need for evaluating the efficacy of COVID-19 mRNA vaccine in preventing infection aside disease, and - contrary to what has been proposed - advocate for the interval between the two doses not to be extended.