Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

2009

Miglustat has been shown to stabilize disease progression in children, juveniles and adults with Niemann-Pick disease type C (NP-C), a rare genetic disorder characterized by progressive neurological deterioration. We report findings from a retrospective observational cohort study assessing the effects of miglustat on neurological disease progression in patients treated in the clinical practice setting. Data from all NP-C patients prescribed miglustat at 25 expert centers were evaluated using a disease disability scale. The scale analyzed four key parameters of neurological disease progression in NP-C (ambulation, manipulation, language, swallowing). Mean individual parameter scores and a co…

100. A multicentre retrospective survey of miglustat in patients with Niemann-Pick type C disease

2009

Prevalence of hypovitaminosis D in elderly women in Italy: clinical consequences and risk factors

2002

In order to evaluate the prevalence, risk factors, and clinical consequences of hypovitaminosis D in elderly Italian women a multicenter study of 43 osteoporosis centers from all regions of Italy was carried out. Study population included 700 women aged 60-80 years in whom blood was taken for 25-hydroxyvitamin D (25OHD) and parathyroid hormone (PTH) measurements. All subjects were also questioned to assess the prevalence of several risk factors for hypovitaminosis D, osteoporotic fractures and activities of daily living (ADL). Values of 25OHD lower than 5 ng/ml were found in 27% of the women and lower than 12 ng/ml in 76%. 25OHD and PTH levels were negatively correlated ( r=-0.38, after log…

Baseline data from a prospective international disease registry for Niemann-Pick disease type C

2011