Publications by authors named "Maria T Mancini"

Article Synopsis
  • Pancreatic cancer is a leading cause of cancer-related deaths, prompting the need for improved early detection methods.
  • The SiMoT technology, capable of analyzing single molecules, is proposed as a superior diagnostic tool compared to the existing SIMOA system for identifying pancreatic cancer precursor cysts.
  • SiMoT effectively differentiates between various types of pancreatic cysts using advanced data analysis techniques, highlighting its potential for enhancing diagnostics and enabling field-deployable liquid biopsy applications.
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A cohort of 47 patients is screened for pancreatic cancer precursors with a portable 96-well bioelectronic sensing-array for single-molecule assay in cysts fluid and blood plasma, deployable at point-of-care (POC). Pancreatic cancer precursors are mucinous cysts diagnosed with a sensitivity of at most 80% by state-of-the-art cytopathological molecular analyses (e.g.

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Thanks to personalized medicine trends and collaborations between industry, clinical research groups and regulatory agencies, next generation sequencing (NGS) is turning into a common practice faster than one could have originally expected. When considering clinical applications of NGS in oncology, a rapid workflow for DNA extraction from formalin-fixed paraffin-embedded (FFPE) tissue samples, as well as producing high quality library preparation, can be real challenges. Here we consider these targets and how applying effective automation technology to NGS workflows may help improve yield, timing and quality-control.

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Mitral regurgitation secondary to accessory mitral valve (MV) chordae of the left atrium is an extremely rare congenital disease. A 85-year-old female (NYHA I-II) was hospitalized for investigations. An echocardiogram showed calcification of the MV with mild stenosis and moderate regurgitation.

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The most common mutation of the cystic fibrosis transmembrane regulator (CFTR) gene, F508del, produces a misfolded protein resulting in its defective trafficking to the cell surface and an impaired chloride secretion. Pharmacological treatments partially rescue F508del CFTR activity either directly by interacting with the mutant protein and/or indirectly by altering the cellular protein homeostasis. Here, we show that the phosphorylation of ezrin together with its binding to phosphatidylinositol-4,5-bisphosphate (PIP2) tethers the F508del CFTR to the actin cytoskeleton, stabilizing it on the apical membrane and rescuing the sub-membrane compartmentalization of cAMP and activated PKA.

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Introduction: The attention to the impact of gender differences in acne is needed and, at the moment, lacking. The aim of this paper was to perform a systematic review on gender differences in acne.

Evidence Acquisition: A review of the literature was performed using the PubMed and Ovid literature search engines , using a variety of combined search terms including "acne", "gender", "sex", "females", "males".

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Cystic fibrosis transmembrane conductance regulator (CFTR) carrying the F508del mutation is retained in endoplasmic reticulum and fails to traffic to the cell surface where it functions as a protein kinase A (PKA)-activated chloride channel. Pharmacological correctors that rescue the trafficking of F508del CFTR may overcome this defect; however, the rescued F508del CFTR still displays reduced chloride permeability. Therefore, a combined administration of correctors and potentiators of the gating defect is ideal.

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A 63-year-old man showed multiple concentric erythemato-nodular lesions of approximately 1.5-3 cm in diameter, located in the parietal and temporal region. The skin biopsy allowed histological diagnosis of infundibular epidermal cyst associated with chronic granulomatous flogosis; in one of these, a well-differentiated squamous cell carcinoma arising from the cyst wall was found.

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Skin and gut represent physical and immunological barriers between internal and external environment. Some affections involving the intestine, such as celiac disease, are reported to be associated with several different cutaneous diseases, like dermatitis herpetiforme or psoriasis. This could be better explained if gut and skin are taken as complex structures that share physio-pathological and immunological aspects.

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Cardiac lipomas are extremely rare neoplasms. We report the case of a 72-year-old woman with an incidental finding of a cardiac mass.

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Extracellular matrix (ECM) degradation is a critical process in tumor cell invasion and requires membrane and released proteases focalized at membrane structures called invadopodia. While extracellular acidification is important in driving tumor invasion, the structure/function mechanisms underlying this regulation are still unknown. Invadopodia are similar in structure and function to osteoclast podosomes responsible for bone degradation, and extracellular acidification is central to podosome action, suggesting that it could also be for invadopodial function.

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