Publications by authors named "P Concolino"
Introduction: Adrenocortical tumors (ACTs) are frequently encountered in clinical practice. They vary in clinical and biological characteristics from nonfunctional to life threatening hormone excess, from benign to highly aggressive malignant tumors. Most ACTs appear to be benign and nonfunctioning.
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- - A 32-year-old man with MEN1 syndrome presented with multiple health issues, including hyperparathyroidism, but no prolactin or growth hormone-secreting tumors were found.
- - After a subtotal parathyroidectomy, he was diagnosed with non-functioning pituitary adenoma, pancreatic lesions, and Cushing syndrome linked to an adrenal adenoma.
- - Genetic testing confirmed MEN1 syndrome, revealing a new pathogenic mutation (c.758delC) in the MEN1 gene.
Single-Base Substitution Causing Dual-Exon Skipping Event in Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease.
J Clin Med
August 2024
Article Synopsis
- * A rare splicing variant, c.1717-2A>G, was discovered in an Italian male patient, leading to the skipping of two exons and creating a large in-frame deletion, which was confirmed through RNA analysis.
- * This study highlights a unique splicing event caused by a single base change in the PKD2 gene, contributing new understanding of how splicing anomalies affect ADPKD, and suggests a novel mechanism involved in the disease's pathogenesis.
Background: Dissection of genotype-phenotype relationships in hemophilia B (HB) is particularly relevant for challenging (mild HB) or for HB-associated but unclassified factor (F)IX missense variants.
Objective: To contribute elements to interpret unclassified HB-associated FIX missense variants by a multiple-level approach upon identification of a reported, but uncharacterized, FIX missense variant associated with mild HB.
Methods: Molecular modeling of wild-type and V92A FIX variants, expression studies in HEK293 cells with evaluation of protein (ELISA, western blotting) and activity (activated partial thromboplastin time-based/chromogenic assays) levels after recombinant expression, and multiple prediction tools.