Chiesa-ordinamento e scienze moderne in Italia

The tension between sacred and secular runs throughout the history of Italy and determines the Catholic Church’s difficult relationship with scientific progress. However, over the course of time a significant scientific dialogue has been set in motion in the juridical system of the Catholic Church between the theological areas of the humanistic disciplines and the experimental areas of the anthropological sciences. Faced with the progress of modern science, the evolution of canon law therefore becomes a useful and original key to the interpretation of the Catholic Church’s confrontation with modernity

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis