PEDEMONTE , Marina

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by selective weakness of face and upper arms and girdle. Respiratory involvement in FSHD has been described mainly in the most severely affected patients. In this work we tested the respiratory function by spirometry in 12 patients affected...

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BACKGROUND:Female carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, developmuscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinicalfeatures of DMD carriers during childhood are poorly known.PATIENTS:We describe a cohort of pediatric DMDcarriers, providing...

Background: Fundoplication is considered a mainstay in the treatment of gastro-esophageal reflux. However, the literature reports significant recurrences and limited data on long-term outcome. Aims: To evaluate our long-term outcomes of antireflux surgery in children and to assess the results of redo surgery. Methods: We retrospectively...