Gabriele Antonio Bonagura, Davide Giuseppe Ribaldone, Nicoletta Sapone, Giorgio Maria Saracco, Marco Astegiano, Rinaldo Pellicano, Unit of Gastroenterology and Hepatology, Molinette Hospital, 10126 Torino, Italy.
N Sapone's primary focus is on understanding how specific genetic mutations can impact the development of diseases like Crohn's disease, which is an inflammatory condition affecting the digestive tract. By studying the DeltaF508 mutation commonly found in cystic fibrosis patients, Sapone investigates whether this genetic change might offer some level of protection against Crohn's disease. Their work provides important insights that could shape future research into both genetic risk factors and potential treatments for individuals affected by Crohn's disease.
Key findings
In a study of 2,568 individuals across Italy, Sweden, and Scotland, it was found that the DeltaF508 mutation was associated with a 50% reduction in the likelihood of developing Crohn's disease, particularly in Italian and Swedish populations.
Italian patients with the DeltaF508 mutation exhibited the lowest rates of Crohn's disease compared to those without the mutation.
The protective role of the DeltaF508 mutation suggests new avenues for research into preventive measures or treatments for Crohn's disease.
Frequently asked questions
Does Dr. Sapone study Crohn's disease?
Yes, Dr. Sapone's research focuses on the links between genetic mutations, specifically the DeltaF508 mutation, and Crohn's disease.
What treatments has Dr. Sapone researched?
While Dr. Sapone's work primarily investigates genetic factors, the findings could influence future treatment approaches for Crohn's disease.
Is Dr. Sapone's work relevant to patients with cystic fibrosis?
Yes, Dr. Sapone studies a mutation common in cystic fibrosis, which may also provide insights into Crohn's disease, making their work relevant to both patient groups.
Publications in plain English
Microscopic colitis in patients with mild duodenal damage: A new clinical and pathological entity ("lymphocytic enterocolitis")?
2016
World journal of gastrointestinal pathophysiology
Bonagura GA, Ribaldone DG, Fagoonee S, Sapone N, Caviglia GP +3 more
Plain English This study looked at 105 patients with mild damage in the upper part of the intestine (duodenum) to see if it was connected to a condition called microscopic colitis (MC). They found that over half (52.1%) of the 48 patients who had a colonoscopy were diagnosed with MC, and those with MC also reported more diarrhea compared to patients who didn't undergo colonoscopy. This is important because it suggests that mild duodenal damage might be linked to MC, helping doctors better understand and diagnose this condition.
Who this helps: Patients with gastrointestinal issues and their doctors.
Helicobacter pylori in celiac disease and in duodenal intraepithelial lymphocytosis: Active protagonist or innocent bystander?
2015
Clinics and research in hepatology and gastroenterology
Simondi D, Ribaldone DG, Bonagura GA, Foi S, Sapone N +6 more
Plain English This study looked at the presence of the bacteria Helicobacter pylori (H. pylori) in patients with celiac disease and another condition called duodenal intraepithelial lymphocytosis. Researchers found that H. pylori was present in 36% of celiac disease patients, 19% of those with duodenal intraepithelial lymphocytosis, and 41% of healthy controls. The findings also indicated that H. pylori was more common in patients with less severe intestinal damage, suggesting it may play a different role in these conditions than previously thought.
Who this helps: This research benefits patients with celiac disease and doctors treating them.
A Case of Intestinal Mastocytosis Misdiagnosed as Crohn's Disease.
2015
Case reports in gastroenterology
Reggiani S, Cosso L, Adriani A, Pantaleoni S, Risso A +4 more
Plain English This study looked at a patient who had symptoms similar to Crohn's disease but was actually suffering from a rare condition called systemic mastocytosis (SM). The patient didn’t respond to typical steroid treatments for Crohn’s, and the correct diagnosis of SM was only made after surgery. This matters because recognizing SM can prevent misdiagnosis and ensure that patients receive the right treatment sooner.
Who this helps: This helps patients who have gastrointestinal symptoms that don’t respond to standard treatments.
Prevalence and prognostic value of hepatic histological alterations in patients with Crohn's disease.
2015
Scandinavian journal of gastroenterology
Ribaldone DG, Garavagno M, Pellicano R, Bresso F, Fagoonee S +5 more
Plain English The study looked at liver changes in 35 patients with Crohn's disease who did not show any liver problems through standard tests. Researchers found that 60% of the patients had some minor liver changes, but none had serious issues like significant inflammation or fibrosis after an average of 14 years. This is important because it shows that patients with Crohn's disease often do not require extra liver tests unless they show specific symptoms or liver function problems.
Who this helps: This helps patients with Crohn's disease and their doctors by clarifying the need for liver monitoring.
Osteopenia and osteoporosis in patients with new diagnosis of inflammatory bowel disease.
2014
Panminerva medica
Adriani A, Pantaleoni S, Luchino M, Ribaldone DG, Reggiani S +5 more
Plain English This study looked at bone health in patients who have just been diagnosed with inflammatory bowel disease (IBD). Out of 37 patients, 46% were found to have low bone density (osteopenia) and 11% had osteoporosis. This is important because many patients with IBD may not realize they are at risk for bone problems, and early detection can help prevent fractures and other complications.
Who this helps: This helps patients newly diagnosed with IBD, particularly older men and younger women.
Bone mineral density at diagnosis of celiac disease and after 1 year of gluten-free diet.
2014
TheScientificWorldJournal
Pantaleoni S, Luchino M, Adriani A, Pellicano R, Stradella D +5 more
Plain English This study looked at the bone mineral density of 175 people diagnosed with celiac disease, measuring it when they were diagnosed and again after they followed a gluten-free diet for a year. The researchers found that men over 30 and women of all ages had lower bone density levels, and after one year on a gluten-free diet, there was a significant improvement in bone density measurements in the lumbar spine and femoral neck. This research highlights the importance of checking bone health in celiac patients and starting a gluten-free diet early, as it can lead to better bone health.
Who this helps: This helps patients with celiac disease, particularly women and men over 30.
Benefit of supplements in functional dyspepsia after treatment of Helicobacter pylori.
2014
Minerva gastroenterologica e dietologica
Pellicano R, Ribaldone DG, Saracco GM, Leone N, De Angelis C +5 more
Plain English This study looked at how a dietary supplement called Perdiges helped patients with functional dyspepsia after they were treated for an infection caused by Helicobacter pylori. Researchers found that 100% of patients who took Perdiges stopped using proton pump inhibitors (medications that reduce stomach acid) while waiting for a breath test, compared to 86.1% of those who didn’t take the supplement. Additionally, those taking Perdiges reported a significant improvement in their symptoms, with their wellness scores increasing by an average of 1.78 points, while those who didn’t take it experienced a slight worsening.
Who this helps: Patients suffering from functional dyspepsia.
Role of bowel ultrasound as a predictor of surgical recurrence of Crohn's disease.
2013
Scandinavian journal of gastroenterology
Cammarota T, Ribaldone DG, Resegotti A, Repici A, Danese S +11 more
Plain English This study examined how well bowel ultrasound can predict the likelihood of Crohn's disease coming back after surgery. Researchers looked at 196 patients and found that those with bowel wall thickness greater than 3 mm were more than twice as likely (risk ratio of 2.1) to need another surgery compared to those with thinner walls. Specifically, 28% of patients with wall thickness greater than 3 mm required further surgery, compared to only 13% of those with thickness of 3 mm or less. This information is important because it helps identify patients who might need closer monitoring after their initial surgery.
Who this helps: This helps patients with Crohn's disease and their doctors.
A 2008 panorama on osteoporosis and inflammatory bowel disease.
2008
Minerva medica
Sapone N, Pellicano R, Simondi D, Sguazzini C, Reggiani S +3 more
Plain English This study looked at how inflammatory bowel disease (IBD), which includes conditions like Crohn's disease, affects bone health, particularly osteoporosis. It found that between 2% and 30% of IBD patients develop osteoporosis, and those taking glucocorticoids have a higher risk of bone loss and fractures. Screening for bone health is important for IBD patients, especially those with extensive disease or malnutrition, and while calcium and vitamin D are common treatments, they often aren't enough, so medications called bisphosphonates are necessary for those on glucocorticoids.
Who this helps: This helps patients with IBD and their doctors by highlighting the importance of monitoring and treating bone health.
Assessment of liver fibrosis in the clinical setting: something is changing?
2007
Minerva gastroenterologica e dietologica
Berrutti M, Ciancio A, Smedile A, Brunello F, Bonardi R +5 more
Plain English This study looked at how doctors assess liver damage in patients with chronic liver diseases. It found that while liver biopsies are still the main method to check the severity of liver fibrosis, there's growing interest in noninvasive methods like FibroScan, which measures liver stiffness without the need for surgery. This shift is important because it means patients may face fewer risks and discomfort when getting checked for liver damage, making treatment easier and safer.
Who this helps: Patients with chronic liver diseases.
Efficacy and safety of oral beclomethasone dipropionate for ileal or ileal-right colon Crohn's disease of mild-to-moderate activity or in remission: Retrospective study.
Astegiano M, Pagano N, Sapone N, Simondi D, Bertolusso L +6 more
Plain English This study focused on the effectiveness and safety of a medication called oral beclomethasone dipropionate (BDP) for treating adults with mild-to-moderate Crohn's disease. After 24 weeks of treatment, patients had a significant decrease in their disease activity, with 66.7% of those initially sick showing improvement and 93.8% of those already in remission staying healthy. The treatment was largely well-tolerated, with only a few minor side effects reported.
Who this helps: This benefits patients with mild-to-moderate Crohn's disease looking for effective treatment options.
Hepatocellular carcinoma complicating primary sclerosing cholangitis in Crohn's disease. A case report.
2007
Minerva gastroenterologica e dietologica
Demarchi B, Bresso F, Novero D, Palestro G, Sapone N +5 more
Plain English This study looked at a patient with three medical conditions: primary sclerosing cholangitis (PSC), Crohn's disease (CD), and hepatocellular carcinoma (HCC). While PSC affects about 8.5% of people with CD and can lead to cancer, HCC is rarely seen in these patients. This case is notable because it highlights the uncommon combination of all three conditions, which can help doctors recognize potential risks in similar patients.
Who this helps: This benefits doctors and patients with Crohn's disease who may be at risk for liver complications.
Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease.
2007
Inflammatory bowel diseases
Bresso F, Askling J, Astegiano M, Demarchi B, Sapone N +15 more
Plain English This study looked at the common DeltaF508 mutation in cystic fibrosis to see if it plays a role in Crohn's disease, a type of inflammatory bowel disease. Researchers analyzed 2,568 people from Italy, Sweden, and Scotland and found that people with this mutation were less likely to have Crohn's disease, especially in Italian and Swedish patients. This matters because it suggests that the DeltaF508 mutation might help protect against Crohn's disease, which could influence future research and treatment options.
Who this helps: Patients with Crohn's disease and healthcare providers.
Association between Crohn's disease and Conn's syndrome. A report of two cases.
2005
Panminerva medica
Astegiano M, Bresso F, Demarchi B, Sapone N, Novero D +4 more
Plain English This study looked at two patients who had both Crohn's disease and Conn's syndrome, which is a condition that can cause low potassium levels and high blood pressure. The researchers found that the symptoms of these two diseases can overlap, leading to complications like persistent diarrhea and hypertension. This matters because it highlights that these two serious conditions can occur together, which may affect how they are treated and managed.
Who this helps: Patients with Crohn's disease and healthcare providers caring for them.
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.
2004
European journal of human genetics : EJHG
Giachino D, van Duist MM, Regazzoni S, Gregori D, Bardessono M +10 more
Plain English This study examined specific genetic variants (R702W, G908R, and L1007fs) in a group of Italian patients with Crohn's disease (CD) and ulcerative colitis (UC). Researchers found that 32.6% of CD patients carried at least one of these variants, compared to 18.6% of healthy controls. The genetic variations were linked to how severely the disease could affect patients, showing a strong connection between certain gene types and disease behavior, like more severe forms of the disease.
Who this helps: This research benefits patients with Crohn's disease, as well as doctors seeking to understand the genetic factors impacting disease severity.
Laboratory evaluation of the patient with liver disease.
2004
European review for medical and pharmacological sciences
Astegiano M, Sapone N, Demarchi B, Rossetti S, Bonardi R +1 more
Plain English This paper studied how well different liver tests can evaluate liver function in patients with liver disease. It found that using a combination of tests, such as AST, alkaline phosphatase, bilirubin, and albumin, is more effective and cost-efficient than relying on a single test. Understanding liver function through these tests is crucial for diagnosing issues early and determining the best treatment approach.
Who this helps: This helps patients with liver disease and their doctors.
Safety and efficacy of azathioprine in the maintenance of ciclosporin-induced remission of ulcerative colitis.
2001
Alimentary pharmacology & therapeutics
Actis GC, Bresso F, Astegiano M, Demarchi B, Sapone N +2 more
Plain English This study looked at the use of the medicine azathioprine in patients with ulcerative colitis who do not respond to steroids but have benefited from ciclosporin treatment. Among 21 patients, 31% experienced side effects, but azathioprine was found to effectively help manage their condition, allowing for a significant reduction in steroid use—from an average of 38 mg to 3.8 mg daily. These findings are important because they indicate that azathioprine can safely maintain remission in hard-to-treat cases, improving patient outcomes and potentially reducing reliance on steroids.
Who this helps: This helps patients with steroid-refractory ulcerative colitis and their doctors.
[Abdominal pain and bowel dysfunction: diagnostic flow-chart could be simplified?].
2001
Minerva gastroenterologica e dietologica
Astegiano M, Cammarota T, Bresso F, Sapone N, Demarchi B +5 more
Plain English This study looked at how effective a scoring system called the Kruis score and intestinal ultrasound are for diagnosing young patients with abdominal pain and digestive issues, particularly those with Crohn's disease and irritable bowel syndrome. The study involved 297 patients and found that the Kruis score was highly effective at identifying irritable bowel syndrome, with a sensitivity of 97%, while the intestinal ultrasound effectively diagnosed Crohn's disease with a sensitivity of 84%. Both methods together correctly diagnosed 97% of patients, showing that they are reliable tools, especially when used together.
Who this helps: This benefits young patients experiencing unexplained abdominal pain and doctors treating them.