Purpose: To assess the impact of a faculty-mentored, resident-as-teacher theoretical-practical breast MRI (B-MRI) course on the reporting completeness and accuracy of "trainee" radiology residents (RRs) with basic or no experience in conventional breast imaging (CBI) and the personal skills and critical thinking of experienced, "teacher" RRs.
Methods: Six teacher-RRs from the Udine University residency program (URP) preliminarily selected and reported 55 B-MRI cases under faculty supervision. Twelve trainee-RRs (six from Udine URP and six from Vienna URP, with basic and no experience in CBI, respectively) underwent seven days of self-study on selected material, followed by a pre-training reporting test (pre-TRT) on 15 of the 55 B-MRI cases.
Purpose: To report on a new phenotype in a patient carrying a novel, undescribed de novo variant in POLR3B, affected by generalized myoclonic epilepsy and neurodevelopmental disorder, without neuropathy. It is known that biallelic pathogenic variants in POLR3B cause hypomyelinating leukodystrophy-8, and heterozygous de novo variants are described in association to a phenotype characterized by predominantly demyelinating sensory-motor peripheral neuropathy, ataxia, spasticity, intellectual disability and epilepsy, in which the peripheral neuropathy is often the main clinical presentation.
Methods: We collected clinical, electrophysiological and neuroimaging data from the affected subject and performed a Trio-Clinical Exome Sequencing.
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occurrence of copy number variants (CNVs) in a cohort of 19 unrelated OAVS individuals with congenital heart defect.
View Article and Find Full Text PDFWine is probably the oldest and still most consumed alcoholic beverage in the world. Nevertheless, it contains several biomolecules with beneficial health effects. Phenols are among them and, in this article, we identified and quantified by HPLC catechin, gallic acid, hydroxytyrosol, quercetin, -resveratrol, and syringic acid in Primitivo and Negroamaro red wines from Salento, in Southeast Italy.
View Article and Find Full Text PDFNutraceutics is a growing research field in which researchers study and attempt to improve the biological properties of metabolites in food. Wine is one of the most consumed products in the world and contains a plethora of molecules biologically relevant to human health. In this article, several polyphenols with potential antioxidant activity were measured in wines from Apulia, in Southeast Italy.
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