The New Modular Sforzesco Brace (Modular Italian Brace) Is as Effective as the Classical One: A Retrospective Controlled Study from a Prospective Cohort.

: The Sforzesco brace is a very rigid push-up brace effective in adolescent idiopathic scoliosis (AIS). We recently developed a new Sforzesco brace based on modularity (the Modular Italian brace-MI brace) that could allow standardization, facilitating global expertise diffusion, increased modifiability and adaptability, and cost savings due to longer brace life. We aimed to compare the short-term results of the two braces.

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%-5% of children and represents a public health challenge due to complexity of the etiology. Only few patients with unexplained syndromic and non-syndromic NDDs receive a diagnosis through first-tier genetic tests as array-CGH and the search for CGG expansion. The aim of this study was to evaluate the clinical performance of a targeted next-generation sequencing (NGS) gene panel as a second-tier test in a group of undiagnosed patients with NDDs.

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM).

Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal dominant condition with incomplete penetrance and highly variable expressivity. Its pathogenesis has been associated with loss-of-function mutations in three genes, namely KRIT1 (CCM1), CCM2 and PDCD10 (CCM3), which are implicated in defense mechanisms against oxidative stress and inflammation.

Impact of the Free-Pelvis Innovation in Very Rigid Braces for Adolescents with Idiopathic Scoliosis: Short-Term Results of a Matched Case-Control Study.

We introduced pelvis semi-rigid material (ethylene vinyl acetate) (Free-Pelvis) to improve the comfort and adaptability of very rigid braces (VRBs) for adolescents with idiopathic scoliosis (AIS), but this can also negatively impact the corrective forces on the trunk. Study Design: This was a matched retrospective cohort study. The inclusion criteria were AIS, age 10-16, VRB 23 h/day, X-rays available, primary curve 36°-65°, and angle of trunk rotation 7-23°.