Publications by authors named "Raffaella Alessia Zuppardo"

Article Synopsis
  • This study looked at people with a specific type of cancer called pancreatic ductal adenocarcinoma (PDAC) and whether their family history affects recommendations for health check-ups.
  • It compared two groups: one that carries certain genetic risks for PDAC and another that does not.
  • The results showed that while many people with genetic risks had no close family history of PDAC, those who did were more likely to have family members with the disease, suggesting family history is important in understanding cancer risk.
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  • A multidisciplinary group of 69 experts created the first evidence-based consensus recommendations for managing early-onset colorectal cancer (eoCRC) since existing guidelines are not age-specific.
  • They utilized a Delphi methodology, achieving an 80% consensus on 31 important statements covering diagnosis, genetics, therapy, and more, emphasizing the need for risk stratification and genetic testing for patients under 50.
  • The recommendations highlight that treatments for eoCRC should generally align with those for later-onset cases, but also point out knowledge gaps that require further research, including optimal screening age and post-treatment care.
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  • This study focused on how Italian gastroenterologists manage patients with hereditary colorectal cancer syndromes and how the SARS-CoV-2 pandemic impacted their practices.
  • Among the 121 clinicians surveyed, many gathered family histories for genetic risk assessment, but only a small percentage utilized online predictive tools or offered specialized endoscopy and surgeries.
  • The pandemic led to reduced clinician workloads and delays in surveillance for nearly half of the respondents, highlighting the urgent need to resume endoscopic surveillance to prevent serious health consequences.
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Background/objectives: Autoimmune diseases are often associated with human leukocyte antigen (HLA) haplotypes, indicating that changes in major histocompatibility complex (MHC)-dependent self-peptide or antigen presentation contribute to autoimmunity. In our study, we aimed to investigate HLA alleles in a large European cohort of autoimmune pancreatitis (AIP) patients.

Methods: Hundred patients with AIP, diagnosed and classified according to the International Consensus Diagnostic Criteria (ICDC), were prospectively enrolled in the study.

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The incidence of early-onset colorectal cancer, defined as colorectal cancer occurring in young adults under the age of 50, is increasing globally. Knowledge of the etiological factors in young adults is far from complete. Questionable eoCRCs' exogenous factors are represented by processed meat, sugary drinks, alcohol, Western dietary pattern, overweight and obesity, physical inactivity, and smoking, though with heterogeneous results.

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Background: Transoral incisionless fundoplication (TIF) with Medigus Ultrasonic Surgical Endostapler (MUSE) is a new intervention for treatment of gastro-esophageal reflux disease (GERD). We aimed at assessing the clinical, functional, and endoscopic effects of TIF by MUSE.

Methods: Forty-six patients underwent TIF.

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Pancreatic ductal adenocarcinoma (PDAC) is among the most lethal cancers. Its poor prognosis is predominantly due to the fact that most patients remain asymptomatic until the disease reaches an advanced stage, alongside the lack of early markers and screening strategies. A better understanding of PDAC risk factors is essential for the identification of groups at high risk in the population.

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Pancreatic ductal adenocarcinoma (PDAC) is projected to become the second cancer-related cause of death by 2030. Identifying novel risk factors, including genetic risk loci, could be instrumental in risk stratification and implementation of prevention strategies. Long noncoding RNAs (lncRNAs) are involved in regulation of key biological processes, and the possible role of their genetic variability has been unexplored so far.

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Background: The G-protein-coupled receptor Class C Group 6 Member A (GPRC6A) is activated by multiple ligands and is important for the regulation of calcium homeostasis. Extracellular calcium is capable to increase NLRP3 inflammasome activity of the innate immune system and deletion of this proinflammatory pathway mitigated pancreatitis severity in vivo. As such this pathway and the GPRC6A receptor is a reasonable candidate gene for pancreatitis.

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Background: The role of microbiota in Lynch syndrome (LS) is still under debate. We compared oral and fecal microbiota of LS saliva and stool samples with normal healthy controls (NHC).

Methods: Total DNA was purified from feces and saliva to amplify the V3-V4 region of the 16s rRNA gene.

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Aims: A higher SGLT1 and GLUT2 gene expression was shown in the intestine of subjects with type 2 diabetes, while no data have been reported in type 1 diabetes (T1D). The purpose of our study was to evaluate the expression of glucose transporters in duodenal mucosa of subjects with T1D, compared to healthy controls (CTRL) and to patients with celiac disease (CD), as gut inflammatory disease control group.

Materials And Methods: Gene expression of GLUT1, GLUT2, SGLT1 and SGLT2 was quantified on duodenal mucosa biopsies of subjects with T1D (n = 19), CD (n = 16), T1D and CD (n = 6) and CTRL (n = 12), recruited at San Raffaele Hospital (Milan, Italy), between 2009 and 2018.

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Early onset pancreatic cancer (EOPC) is a rare disease with a very high mortality rate. Almost nothing is known on the genetic susceptibility of EOPC, therefore, we performed a genome-wide association study (GWAS) to identify novel genetic variants specific for patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) at younger ages. In the first phase, conducted on 821 cases with age of onset ≤60 years, of whom 198 with age of onset ≤50, and 3227 controls from PanScan I-II, we observed four SNPs (rs7155613, rs2328991, rs4891017 and rs12610094) showing an association with EOPC risk (P < 1 × 10 ).

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Article Synopsis
  • - Chronic pancreatitis (CP) can be linked to oxidative stress, particularly through the formation of advanced glycation endproducts (AGE) from methylglyoxal, which is regulated by the enzyme Glyoxalase I (GLO1).
  • - A study analyzed genetic variants (SNPs) in GLO1 among 223 alcohol-related CP and 218 non-alcohol-related CP patients compared to 328 controls, using a larger cohort of up to 1,441 samples for further confirmation.
  • - Results showed that common GLO1 variants were not significantly associated with an increased risk of chronic pancreatitis in either alcoholic or non-alcoholic cases.
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Colorectal cancer incidence and mortality in patients younger than 50 years are increasing, but screening before the age of 50 is not offered in Europe. Advanced-stage diagnosis and mortality from colorectal cancer before 50 years of age are increasing. This is not a detection-bias effect; it is a real issue affecting the entire population.

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Background/objectives: Acute pancreatitis (AP) is one of the most common gastrointestinal disorders often requiring hospitalization. Frequent aetiologies are gallstones and alcohol abuse. In contrast to chronic pancreatitis (CP) few robust genetic associations have been described.

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Early onset colorectal cancers, defined as arising before 50 years of age, are a growing health hazard in western and eastern countries alike. The incidence of colon and rectal cancers in young individuals is projected to increase by as much as 90% and 140%, respectively, by 2030. Although several known cancer risk factors (e.

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Background: SPINK1 p.N34S gene variation is one of the endogenous factors which seem to be associated with chronic pancreatitis (CP). However, in literature there is no clear agreement regarding its contribution in different ethnicity and CP etiologies.

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Objectives: The aim of this study was to investigate the contribution of smoking and alcohol intake and pancreas divisum on the risk of developing chronic pancreatitis (CP).

Methods: Consecutive patients with CP who underwent secretin-enhanced magnetic resonance cholangiopancreatography were compared with consecutive patients without pancreatic disease who underwent secretin-enhanced magnetic resonance cholangiopancreatography for irritable bowel syndrome.

Results: We enrolled 145 consecutive CP patients and 103 irritable bowel syndrome patients from 2010 to 2014.

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Background: Magnetic resonance cholangio-pancreatography (MRCP) findings in people with chronic asymptomatic pancreatic hyperenzymemia (CAPH) have shifted the hypothesis that CAPH is always non-pathological. However, there have been no studies including both secretin-MRCP (S-MRCP) and endoscopic ultrasonography (EUS) to examine the pancreatic morphology in these subjects.

Aim: To prospectively assess the diagnostic approach for CAPH using both pancreatic EUS and S-MRCP.

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Aim: To assess the rate of relapses of acute pancreatitis (AP), recurrent AP (RAP) and the evolution of endosonographic signs of chronic pancreatitis (CP) in patients with pancreas divisum (PDiv) and RAP.

Methods: Over a five-year period, patients with PDiv and RAP prospectively enrolled were divided into two groups: (1) those with relapses of AP in the year before enrollment were assigned to have endoscopic therapy (recent RAP group); and (2) those free of recurrences were conservatively managed, unless they relapsed during follow-up (previous RAP group). All patients in both groups entered a follow-up protocol that included clinical and biochemical evaluation, pancreatic endoscopic ultrasonography (EUS) every year and after every recurrence of AP, at the same time as endoscopic retrograde cholangiopancreatography (ERCP).

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Background: The natural history of acute pancreatitis is based on clinical studies that aim to elucidate the course of disease on the basis of predicted risk factors.

Aims: To evaluate the long-term occurrence of recurrent acute pancreatitis and chronic pancreatitis in a cohort of patients following an initial episode of acute pancreatitis.

Methods: 196 patients were enrolled consecutively and studied prospectively.

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Objectives: Acute, acute recurrent, and chronic pancreatitis are inflammatory diseases with multifactorial pathogenic mechanisms. Genetic mutations and polymorphisms have been correlated with pancreatitis. The aim of this study was to investigate the association of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) gene mutations and monocyte chemoattractant protein 1 (MCP-1) -2518A/G polymorphism with acute pancreatitis (AP), acute recurrent pancreatitis (ARP), and chronic pancreatitis (CP), and to associate genetic backgrounds with clinical phenotype in these three conditions.

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