Publications by authors named "Francesco Tomba"
Article Synopsis
- The study investigates the role of CFTR gene variants in pancreatitis patients, focusing on their functional implications and the effectiveness of CFTR modulator drugs.
- Next-generation sequencing and various tests were conducted to assess CFTR function in vivo, revealing impaired CFTR function in several patients, some of whom had CF-causing mutations.
- The research found that CFTR modulators improved function in specific cases, highlighting the potential for using patient-derived tissues to identify defects and evaluate treatment options.
Article Synopsis
- Mutation-targeted therapy for cystic fibrosis (CF) is not suitable for all patients, particularly those with rare CFTR gene variants like W57G/A234D.
- Researchers analyzed how these variants affect CFTR protein stability using colonoids and nasal epithelial cells, utilizing methods like western blotting and Ussing chamber analysis.
- Treatment with CFTR modulators (VX661, VX445, VX770) showed improved CFTR function, reduced sweat chloride levels, and an increase in lung function (FEV1%) after 27 weeks, highlighting the importance of personalized treatment approaches for CF.
An Italian, 46-year-old female patient carrying the complex allele p.[R74W;V201M;D1270N] in trans with CFTR dele22_24 was diagnosed at the Cystic Fibrosis (CF) Center of Verona as being affected by CF-pancreatic sufficient (CF-PS) in 2021. The variant V201M has unknown significance, while both of the other variants of this complex allele have variable clinical consequences, according to the CFTR2 database, with reported clinical benefits for treatment with ivacaftor + tezacaftor and ivacaftor + tezacaftor + elexacaftor in patients carrying the R74W-D1270N complex allele, which are currently approved (in USA, not yet in Italy).
View Article and Find Full Text PDFThe treatment of leak after esophageal and gastric surgery is a major challenge. Over the last few years, endoscopic vacuum therapy (E-VAC) has gained popularity in the management of this life-threatening complication. We reported our initial experience on E-VAC therapy as rescue treatment in refractory anastomotic leak and perforation after gastro-esophageal surgery.
View Article and Find Full Text PDFBackground: Acute recurrent pancreatitis (ARP) is characterized by episodes of acute pancreatitis in an otherwise normal gland. When no cause of ARP is identifiable, the diagnosis of "idiopathic" ARP is given. Mutations in the cystic fibrosis transmembrane conductance regulator () gene increase the risk of ARP by 3- to 4-times compared to the general population, while cystic fibrosis (CF) patients present with a 40- to 80-times higher risk of developing pancreatitis.
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