Center for Digestive Diseases, Department of Gastroenterology, Dermatology, and Rheumatology, Karolinska University Hospital, Stockholm, Sweden.; Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.
F Bresso studies the impact of genetic factors on the risk and development of Crohn's disease, which is a chronic inflammatory condition affecting the digestive system. Specifically, Bresso investigates the DeltaF508 mutation, commonly associated with cystic fibrosis, to determine if it has any protective effects against Crohn's disease. This research is significant as it could pave the way for new understanding and treatments related to our genetic predisposition to inflammatory bowel diseases.
Key findings
In a study of 2,568 individuals from Italy, Sweden, and Scotland, it was found that those carrying the DeltaF508 mutation were less likely to have Crohn's disease, particularly among Italian and Swedish patients.
The research indicates that the DeltaF508 mutation may provide a protective factor against the development of Crohn's disease.
The findings open pathways for future research that could explore how genetic mutations influence inflammatory diseases.
Frequently asked questions
Does Dr. Bresso study Crohn's disease?
Yes, Dr. Bresso researches Crohn's disease, focusing on how genetic factors, particularly the DeltaF508 mutation, may influence the risk of developing this condition.
What genetic mutation is Dr. Bresso interested in?
Dr. Bresso is particularly interested in the DeltaF508 mutation, which is commonly associated with cystic fibrosis.
How does Bresso's research impact patients with Crohn's disease?
Bresso's findings could help inform future treatments by identifying genetic factors that may protect against Crohn's disease.
Publications in plain English
Variation in nutritional therapy practices: results of a survey on nutritional management of severe inflammatory bowel disease.
2025
European journal of gastroenterology & hepatology
Selin KA, Andersson S, Bilén K, Strid H, Björk J +3 more
Plain English This study looked at how nutritional therapy for severe inflammatory bowel disease, specifically ulcerative colitis and Crohn's disease, varies across different countries and healthcare settings. Researchers surveyed 313 healthcare professionals, finding that 68% were doctors, and noted that 45% did not use any specific nutritional screening tool. The study revealed that oral nutritional supplements were the most common therapy, but the use of dietitians for patient assessment was low, with nearly 25% of respondents reporting that fewer than 25% of patients were evaluated by one during the first three days of a flare-up, highlighting inconsistencies in treatment approaches.
Who this helps: This research benefits healthcare professionals, policymakers, and patients with inflammatory bowel disease.
Cohort profile: the Swedish Inception Cohort in inflammatory bowel disease (SIC-IBD).
2025
BMJ open
Salomon B, Grännö O, Bergemalm D, Strid H, Carstens A +23 more
Plain English The study focused on a group of 367 patients with inflammatory bowel disease (IBD) and 168 people with similar symptoms but no IBD, gathered at eight hospitals in Sweden over a decade. Researchers found that 37% of patients with Crohn’s disease and 24% of those with ulcerative colitis experienced a severe progression of their illness within the first year. This research is important because it helps identify specific biological markers that could improve diagnosis and treatment for patients with IBD.
Who this helps: This benefits patients with inflammatory bowel disease and their doctors.
Factors affecting response rates in patient-reported outcome measures in inflammatory bowel disease.
2025
Scandinavian journal of gastroenterology
Dharmadasa V, Yip Lundström LM, Khatibi N, Hossain J, El Kadiry K +6 more
Plain English This study looked at how well patients with inflammatory bowel diseases, like Crohn's disease and ulcerative colitis, report on their health and quality of life using questionnaires. It found that patients receiving home-based, subcutaneous treatments completed these questionnaires significantly less often—about 6.5 times less than those on intravenous treatments. This matters because it means that patients receiving certain types of treatment may not be as well monitored, potentially missing important information about their health.
Who this helps: This helps patients and doctors by ensuring that all treatment methods are effectively monitored for patient well-being.
Endoscopic insights into digestive-related adverse effects of immune checkpoint inhibitors: A narrative review.
2025
World journal of gastrointestinal endoscopy
Petrousis G, Szczegielniak S, Sabhan H, Elbe P, Bilican G +4 more
Plain English This study looked at how immune checkpoint inhibitors (ICIs), a type of cancer treatment, can cause problems in the digestive system. Researchers reviewed existing studies and found that these treatments often lead to digestive-related side effects that can significantly affect a patient's quality of life. They highlighted specific effects on both the upper and lower digestive tract and discussed ways to diagnose and manage these issues.
Who this helps: This helps cancer patients who are undergoing treatment with immune checkpoint inhibitors.
Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes.
2024
Journal of Crohn's & colitis
Zheng T, Roda G, Zabana Y, Escudero-Hernández C, Liu X +35 more
Plain English This study looked at two types of microscopic colitis, collagenous colitis (CC) and lymphocytic colitis (LC), to see if they are related or different conditions. Researchers analyzed genetic data from nearly 15,000 patients and found strong links between CC and specific genetic markers, particularly the DRB1*03:01 allele, which was associated with nearly double the risk of developing CC. In contrast, there were no significant genetic links found for LC, suggesting that CC and LC should be classified separately.
Who this helps: This benefits doctors and researchers working on improving diagnoses and treatments for patients with microscopic colitis.
Upadacitinib Reduces Crohn's Disease Symptoms Within the First Week of Induction Therapy.
2024
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
Colombel JF, Hisamatsu T, Atreya R, Bresso F, Thin L +9 more
Plain English This study looked at how quickly a medication called Upadacitinib (UPA) helps relieve symptoms in patients with moderate to severe Crohn's disease. Researchers found that patients taking UPA experienced significant improvements in stool frequency and abdominal pain as early as 5-6 days into the treatment. By week 2, 21.1% of patients on UPA reached clinical remission compared to only 8.9% of those on a placebo.
Who this helps: This helps patients with Crohn's disease seeking fast relief from their symptoms.
Detailed Transcriptional Landscape of Peripheral Blood Points to Increased Neutrophil Activation in Treatment-Naïve Inflammatory Bowel Disease.
2022
Journal of Crohn's & colitis
Juzenas S, Hübenthal M, Lindqvist CM, Kruse R, Steiert TA +19 more
Plain English This study examined the blood samples of people with inflammatory bowel disease (IBD), focusing on those who had not yet received treatment, to understand their immune system activity. Researchers found that these patients exhibited significant changes in gene expression related to neutrophil activation, a type of white blood cell involved in inflammation, with a central gene, IL1B, playing a key role. Specifically, IBD patients showed reduced levels of gene co-expression related to neutrophils compared to healthy individuals, highlighting the immune system's dysregulation in these patients.
Who this helps: This helps patients with inflammatory bowel disease by providing insights into their immune response, which could lead to better-targeted treatments.
Age determines the risk of familial inflammatory bowel disease-A nationwide study.
2022
Alimentary pharmacology & therapeutics
Halfvarson J, Ludvigsson JF, Bresso F, Askling J, Sachs MC +1 more
Plain English This study looked at how likely it is for family members to develop inflammatory bowel disease (IBD) if someone in their family already has it. Researchers found that people with IBD were much more likely to have close family members with the same condition—3.5 times more likely for parents and 3.6 times for siblings—compared to those without IBD in their family. Additionally, the risk was higher for younger patients, with a staggering 10.6 times increase for children with Crohn's disease diagnosed at a young age.
Who this helps: This research benefits families at risk for IBD by informing doctors about genetic factors and potential screening options.
Downregulated Mucosal Autophagy, Alpha Kinase-1 and IL-17 Signaling Pathways in Active and Quiescent Ulcerative Colitis.
2022
Clinical and experimental gastroenterology
Moraes Holst L, Halfvarson J, Carlson M, Hedin C, Kruse R +16 more
Plain English This study examined the immune responses in the intestines of patients with ulcerative colitis (UC) and Crohn's disease (CD) at different stages of their conditions. Researchers analyzed tissue samples from 47 people and found that those with active IBD had generally higher immune activity compared to healthy individuals. However, important signaling pathways related to maintaining gut health were lower in both active UC and UC patients in remission, indicating difficulties in achieving a stable recovery.
Who this helps: This research benefits patients with ulcerative colitis, as it could lead to better treatment options and strategies to manage their disease.
Older age is a risk factor for inadequate energy intake during acute, severe IBD and is associated with shorter time to relapse.
2020
Scandinavian journal of gastroenterology
Kulmala KA, Björk J, Andersson S, Backman AS, Eberhardson M +2 more
Plain English This study looked at how well older patients with severe inflammatory bowel disease (IBD) are able to consume enough energy while hospitalized and how this affects their chances of relapse. Researchers found that 19% of patients had less than 30% of their daily energy needs during their hospital stay, and older patients were more likely to not meet these energy needs. Additionally, not getting enough energy was linked to a quicker need for new treatment, highlighting the importance of proper nutrition in recovery.
Who this helps: This research benefits older patients with IBD and their healthcare providers by emphasizing the need for monitoring and improving nutritional intake during hospital stays.
Serum zonulin in patients with inflammatory bowel disease: a pilot study.
2019
Minerva medica
Caviglia GP, Dughera F, Ribaldone DG, Rosso C, Abate ML +5 more
Plain English This study looked at a protein called zonulin in people with inflammatory bowel disease (IBD) to see if it could indicate problems with how well their intestines are working. They found that IBD patients had much higher levels of zonulin in their blood (about 34.5 ng/mL) compared to healthy individuals (about 8.6 ng/mL), which could help doctors identify intestinal issues early on. Interestingly, the study showed that zonulin levels do not differ between types of IBD and that there's no link between zonulin in blood and stool samples.
Who this helps: This helps doctors in diagnosing and monitoring patients with inflammatory bowel disease.
Female-Specific Association Between Variants on Chromosome 9 and Self-Reported Diagnosis of Irritable Bowel Syndrome.
2018
Gastroenterology
Bonfiglio F, Zheng T, Garcia-Etxebarria K, Hadizadeh F, Bujanda L +31 more
Plain English This study looked for genetic factors that might influence the risk of irritable bowel syndrome (IBS), focusing on data from over 500,000 people in the UK Biobank. Researchers found that a specific genetic variant on chromosome 9 (called rs10512344) is linked to an increased risk of IBS in women. This discovery is important because it may help us understand why women are more prone to this condition and could lead to better treatments that consider their unique biology.
Who this helps: This research benefits women suffering from IBS and healthcare providers seeking targeted treatments.
Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis.
2017
Gut
Westerlind H, Mellander MR, Bresso F, Munch A, Bonfiglio F +20 more
Plain English This study looked at the genetic factors that might increase the risk of collagenous colitis (CC), a condition that causes chronic diarrhea, especially in older women. Researchers found that certain genetic variants, particularly in the HLA region of the genome, were strongly linked to a higher risk of developing CC. Specifically, they identified that the DQ2.5 variant was associated with about double the risk of the disease (odds ratio of 2.06). Understanding these genetic links helps clarify the role that the immune system plays in CC.
Who this helps: This benefits patients with collagenous colitis and their doctors by providing insights into the genetic risks involved.
A meta-analysis of reflux genome-wide association studies in 6750 Northern Europeans from the general population.
2017
Neurogastroenterology and motility
Bonfiglio F, Hysi PG, Ek W, Karhunen V, Rivera NV +11 more
Plain English This study examined the genetic factors involved in gastroesophageal reflux disease (GERD) by analyzing data from nearly 6,750 people from Sweden, Finland, and the UK. Researchers found 30 genetic markers linked to an increased risk of GERD, identifying specific genes that may influence how the condition develops, and noted that the acid-reducing drug omeprazole affects the expression of these genes. Understanding these genetic links can help develop better treatments for GERD.
Who this helps: This benefits patients suffering from GERD and doctors treating them.
Downregulation of MicroRNA-21 in Colonic CD3+ T Cells in UC Remission.
2016
Inflammatory bowel diseases
Ando Y, Mazzurana L, Forkel M, Okazaki K, Aoi M +3 more
Plain English This study looked at how a specific molecule, microRNA-21 (miR-21), behaves in immune cells from patients with ulcerative colitis (UC). Researchers found that when patients with UC are in remission, the levels of miR-21 in certain immune cells decrease significantly, while another molecule, PDCD4, increases. This matters because understanding these changes can help develop new treatments that maintain remission in UC patients.
Who this helps: This benefits patients with ulcerative colitis.
Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
2015
Gut
Ek WE, Reznichenko A, Ripke S, Niesler B, Zucchelli M +39 more
Plain English This research looked into the genetics of irritable bowel syndrome (IBS) by studying a large group of Swedish twins and finding specific genes linked to the condition. They found that a particular gene region, 7p22.1, consistently showed a connection to IBS across several different groups, with a significance level of 9.31×10(-6), indicating a strong link. Understanding these genetic factors is important because it can lead to better treatments and insights into IBS, which affects many people's quality of life.
Who this helps: This helps patients suffering from IBS and healthcare providers looking for effective treatments.
Power Doppler sonography to predict the risk of surgical recurrence of Crohn's disease.
2015
Journal of ultrasound
Ribaldone DG, Cammarota T, Resegotti A, Sarno A, Robotti D +8 more
Plain English Researchers looked at how power Doppler sonography can help predict whether patients with Crohn's disease will need more surgery after an initial operation. They studied 33 patients and found that 42% of those with a positive power Doppler had surgery again, compared to 28.6% with a negative result. If the bowel wall was thicker than 5 mm and the power Doppler was positive, the risk of needing more surgery increased to over 55%.
Who this helps: This helps patients with Crohn's disease and their doctors make better decisions about treatment after surgery.
Glucose breath test and Crohn's disease: Diagnosis of small intestinal bacterial overgrowth and evaluation of therapeutic response.
2015
Scandinavian journal of gastroenterology
Greco A, Caviglia GP, Brignolo P, Ribaldone DG, Reggiani S +6 more
Plain English This study focused on how common small intestinal bacterial overgrowth (SIBO) is among patients with Crohn's disease and how it can be diagnosed and treated. Researchers found that 26.5% of the 68 patients with Crohn's experienced SIBO, which was linked to more frequent bowel movements, looser stools, and a longer duration of Crohn's disease. The study also showed that many patients responded well to combined antibiotic and probiotic treatment after testing positive for SIBO, suggesting that addressing this issue is crucial for improving patient health.
Who this helps: This benefits Crohn's disease patients who may be experiencing additional digestive issues due to SIBO.
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.
Fecal calprotectin is an effective diagnostic tool that differentiates inflammatory from functional intestinal disorders.
2014
Scandinavian journal of gastroenterology
Caviglia GP, Pantaleoni S, Touscoz GA, Adriani A, Rosso C +4 more
Plain English This study examined the effectiveness of measuring fecal calprotectin (FC) in stool samples to distinguish between inflammatory bowel diseases (IBD) and non-inflammatory conditions like irritable bowel syndrome (IBS) in patients preparing for colonoscopy. It found that patients with inflammation had much higher FC levels (average 268 µg/g) compared to those without inflammation (average 49 µg/g), and that FC was particularly good at telling apart IBS and IBD, with a success rate of about 87.5% sensitivity and 90.5% specificity when using a cutoff level of 150 µg/g. This matters because using fecal calprotectin can help doctors better determine when a colonoscopy is necessary, reducing unnecessary procedures and costs.
Who this helps: Doctors and patients needing accurate diagnoses for gastrointestinal issues.
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.
Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
2013
PLoS genetics
Beaudoin M, Goyette P, Boucher G, Lo KS, Rivas MA +32 more
Plain English This study looked at specific genetic variations in people with ulcerative colitis (UC) to see if they were linked to the disease. The researchers found that rare genetic variants in three genes (CARD9, IL23R, and RNF186) were associated with UC, specifically identifying moderate risk levels in RNF186 and IL23R (with odds ratios of 1.49 and 0.79, respectively). While these genetic factors don’t explain a large part of the disease, around 14% of UC cases still seem to be influenced by them, helping us understand more about the genetic basis of UC.
Who this helps: This research will benefit patients with ulcerative colitis and their doctors in better understanding the genetic factors influencing the disease.
Germline genetic contributions to risk for esophageal adenocarcinoma, Barrett's esophagus, and gastroesophageal reflux.
2013
Journal of the National Cancer Institute
Ek WE, Levine DM, D'Amato M, Pedersen NL, Magnusson PK +28 more
Plain English This research explored the genetic factors that increase the risk of developing esophageal adenocarcinoma (EA) and its precursor, Barrett's esophagus (BE), in people who experience chronic gastroesophageal reflux (GERD). The study found that genetics account for about 35% of the risk for BE and 25% for EA, indicating a strong genetic link between these conditions. Understanding these genetic connections is crucial because it can lead to better risk assessment and possibly new prevention strategies for those at high risk.
Who this helps: This benefits patients with Barrett’s esophagus and esophageal adenocarcinoma, as well as their doctors.
Association of TNFSF15 polymorphism with irritable bowel syndrome.
2011
Gut
Zucchelli M, Camilleri M, Andreasson AN, Bresso F, Dlugosz A +12 more
Plain English This study looked at the relationship between a specific gene variation (TNFSF15) and irritable bowel syndrome (IBS), which affects over 10% of people worldwide. Researchers analyzed data from nearly 2,000 individuals and found that a particular genetic change increased the risk of IBS by 37% and the risk of IBS with constipation by 79%. These findings highlight the genetic factors that may contribute to IBS, suggesting that immune responses play a role in this common digestive disorder.
Who this helps: This helps patients suffering from IBS and healthcare providers aiming to better understand and treat the condition.
Multiple polymorphisms affect expression and function of the neuropeptide S receptor (NPSR1).
2011
PloS one
Anedda F, Zucchelli M, Schepis D, Hellquist A, Corrado L +12 more
Plain English This study looked at how variations in a specific gene (NPSR1) affect the way our bodies respond to anxiety, inflammation, and certain diseases like asthma and rheumatoid arthritis. Researchers found that one genetic change significantly impacted the expression of the NPSR1 gene, leading to differences in how a related molecule works in the body. This is important because understanding these genetic variations can help in developing better treatments for related health issues.
Who this helps: This research benefits patients with asthma, inflammatory bowel disease, and other related conditions.
IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.
2009
BMC medical genetics
Einarsdottir E, Koskinen LL, Dukes E, Kainu K, Suomela S +25 more
Plain English This study looked at a specific gene, IL23R, in different populations to see if it is linked to inflammatory bowel disease (IBD), psoriasis, and celiac disease. Researchers confirmed that IL23R is associated with IBD in Swedish patients, while in Finnish patients, they found links between IL23R and both psoriasis and celiac disease. This research is important because it highlights how genetic factors can play a role in chronic inflammatory diseases and may help improve understanding and treatment options for these conditions.
Who this helps: This research benefits patients with inflammatory bowel disease, psoriasis, and celiac disease.
PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease.
2009
Inflammatory bowel diseases
Zucchelli M, Torkvist L, Bresso F, Halfvarson J, Hellquist A +17 more
Plain English This study looked at genetic variations in the SLC15A1 gene, which is involved in transporting substances in the gut, to see how they relate to inflammatory bowel diseases (IBD) like Crohn's disease (CD) and ulcerative colitis (UC). Researchers analyzed 1783 individuals from Sweden and Finland and found that a specific genetic variant (rs2297322) was linked to an increased risk of CD in Sweden (almost double the risk) but provided protection in Finland. These findings highlight the importance of understanding genetic differences in IBD, which could help personalize treatments.
Who this helps: This helps patients with inflammatory bowel disease by clarifying potential genetic factors affecting their condition.
Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease.
2007
Gastroenterology
D'Amato M, Bruce S, Bresso F, Zucchelli M, Ezer S +21 more
Plain English This study looked at a specific gene called NPSR1 to see if variations in it are linked to inflammatory bowel disease (IBD), which includes conditions like Crohn's disease and ulcerative colitis. Researchers found a significant connection between certain genetic variations and IBD; for example, one variation increased the risk of Crohn's disease by 0.05% and another offered some protection against ulcerative colitis. These findings are important because identifying genetic risk factors could help doctors predict who might develop IBD and tailor treatments accordingly.
Who this helps: Patients at risk for inflammatory bowel disease and their healthcare providers.
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.
Functional interaction of CARD15/NOD2 and Crohn's disease-associated TNFalpha polymorphisms.
2005
International journal of colorectal disease
Linderson Y, Bresso F, Buentke E, Pettersson S, D'Amato M
Plain English This study looked at how certain genetic changes in the CARD15/NOD2 and TNFalpha genes affect the production of a protein called TNFalpha, which is linked to Crohn's disease. Researchers found that exposure to a specific substance can boost TNFalpha production through CARD15, but a common variant associated with Crohn's disease showed less activation. This interaction between the two genes can help explain why some people are more likely to develop Crohn's disease than others.
Who this helps: This benefits patients with Crohn's disease and their doctors by improving understanding of genetic risks.
CARD15/NOD2 polymorphisms do not explain concordance of Crohn's disease in Swedish monozygotic twins.
2005
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
Halfvarson J, Bresso F, D'Amato M, Järnerot G, Pettersson S +1 more
Plain English This study looked at the role of specific genetic variations, known as CARD15/NOD2 polymorphisms, in explaining why Crohn's disease occurs in both members of identical twin pairs in Sweden. Researchers found that only 13% of twins with Crohn’s disease had these genetic variants, and among the pairs where both twins had the disease, only 22% carried the mutations. This indicates that while these genetic factors are somewhat linked to Crohn's disease, they do not provide a complete explanation for the condition's occurrence in twins, suggesting other genetic factors may also play a role.
Who this helps: This helps researchers and doctors understand the genetic basis of Crohn's disease better, which may lead to improved treatment options for patients.
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.
[Lithiasis of the gallbladder and biliary ducts: from epidemiology to therapy].
2001
Minerva medica
Pellicano R, Palmas F, Astegiano M, Vanni E, Leone N +2 more
Plain English This paper studied gallbladder stones (cholelithiasis) and their treatment options, noting that these stones are increasingly detected through abdominal ultrasounds. The researchers found that surgery, particularly laparoscopic removal of the gallbladder, is often the best treatment when patients show symptoms or have complications, while preventive surgery may help in cases of precancerous conditions. Understanding these findings is important because they can guide better treatment decisions for patients experiencing gallbladder issues.
Who this helps: Patients suffering from gallbladder stones and related complications.
Detection of anti-Saccharomyces cerevisiae antibodies in Crohn's disease: is it a reliable diagnostic and prognostic marker?
2001
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
Sostegni R, Daperno M, Ercole E, Rigazio C, Bresso F +8 more
Plain English This study looked at a specific type of antibody called anti-Saccharomyces cerevisiae antibodies in patients with Crohn's disease to see if they can be a reliable way to diagnose or predict the disease's progress. In a group of 299 patients, the researchers found that 59% of those with Crohn's disease tested positive for these antibodies, which were particularly linked to cases where the disease affected the ileum (the last part of the small intestine) and occurred at a younger age. This finding is important because it can help doctors better identify and understand Crohn's disease in patients, potentially leading to improved treatment strategies.
Who this helps: This helps doctors and patients with Crohn's disease.
[Variant syndromes in autoimmune hepatic diseases].
2001
Minerva gastroenterologica e dietologica
Durazzo M, Bresso F, Premoli A, Rabbione L
Plain English This study looked at different types of autoimmune liver diseases and how they can be hard to classify because they often overlap with each other and with other liver conditions. Researchers found that patients with these overlapping diseases show various symptoms and disease progressions, which can complicate treatment. Understanding these patterns is crucial for providing the right therapy, and the current classification system may need updates.
Who this helps: This benefits patients with autoimmune liver diseases and their doctors.
Abdominal pain and bowel dysfunction: diagnostic role of intestinal ultrasound.
2001
European journal of gastroenterology & hepatology
Astegiano M, Bresso F, Cammarota T, Sarno A, Robotti D +5 more
Plain English This study looked at how useful intestinal ultrasounds are for diagnosing causes of abdominal pain and bowel problems in young patients. It involved 313 patients who had been experiencing these issues for more than three months but showed no obvious signs of serious conditions. The results showed that ultrasound could accurately identify inflammatory bowel disease with 74% sensitivity and 98% specificity, meaning it's a reliable first step in diagnosing bowel issues without invasive procedures.
Who this helps: This helps young patients experiencing abdominal pain and bowel dysfunction.
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.
[Abdominal pain and bowel dysfunction: the diagnostic role of ultrasonography].
2000
La Radiologia medica
Cammarota T, Bresso F, Sarno A, Astegiano M, Macchiarella V +1 more
Plain English This study looked at how well intestinal ultrasound (US) can identify whether patients with ongoing abdominal pain and bowel issues have serious conditions versus less serious ones. Out of 313 patients, the ultrasound correctly identified inflammatory bowel diseases (IBD) with a sensitivity of 74% and a specificity of 98%. This means that it is a very effective and safe first step in diagnosing conditions like Crohn's disease and ulcerative colitis without needing more invasive tests.
Who this helps: Patients experiencing chronic abdominal pain and bowel dysfunction.