Spinal muscular atrophy is a progressive and severe hereditary (autosomal recessive) neuromuscular disease characterized by lower motor neuron degeneration in the spinal cord and brainstem causing a clinical picture of progressive muscle atrophy and weakness of skeletal and respiratory muscles. There is an ongoing discussion on the extent to which other tissues might be affected in patients with SMA. Several animal models and some case reports or small case series report involvement of other organ systems, such as peripheral nerve, brain, muscle, heart, vascular system, and pancreas.
View Article and Find Full Text PDFAim: Acute Disseminated Encephalomyelitis followed by optic neuritis (ADEM-ON), first described in 2013, is a rare demyelinating syndrome, typical of the pediatric age. We conducted a mini review of the existing literature, focusing on clinical, laboratory, radiological, therapeutic, and prognostic aspects in order to improve the identification of new cases.
Methods: We searched PubMed and Cochrane Library for studies on ADEM-ON between 2013 and 2018.
Background: Current early screeners for psychosis-risk states have still to prove ability in identifying at-risk individuals. Among screeners, the 92-item Prodromal Questionnaire (PQ-92) is often used. We aimed to assess the validity of its Italian translation in a large Italian adolescent and young adult help-seeking sample.
View Article and Find Full Text PDFStudy Objective: To estimate the effectiveness of Qlaira for endometrial preparation in women undergoing hysteroscopic polypectomy in the office setting.
Design: Randomized clinical pilot study (Canadian Task Force classification II-2).
Setting: Academic research environment.