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Irritable Bowel Syndrome: HELP
Articles by Santino Marchi
Based on 18 articles published since 2010
(Why 18 articles?)

Between 2010 and 2020, S. Marchi wrote the following 18 articles about Irritable Bowel Syndrome.
+ Citations + Abstracts
1 Review Low FODMAP Diet: Evidence, Doubts, and Hopes. 2020

Bellini, Massimo / Tonarelli, Sara / Nagy, Attila G / Pancetti, Andrea / Costa, Francesco / Ricchiuti, Angelo / de Bortoli, Nicola / Mosca, Marta / Marchi, Santino / Rossi, Alessandra. ·Gastrointestinal Unit-Department of Translational Sciences and New Technologies in Medicine and Surgery, University of Pisa, 56124 Pisa, Italy. · Clinical and Experimental Medicine-Rheumatology Unit, University of Pisa, 56100 Pisa, Italy. ·Nutrients · Pubmed #31947991.

ABSTRACT: Food is often considered to be a precipitating factor of irritable bowel syndrome (IBS) symptoms. In recent years, there has been a growing interest in FODMAPs (Fermentable Oligo-, Di-, Mono-saccharides, And Polyols), which can be found in many common foods. A low FODMAP diet (LFD) is increasingly suggested for IBS treatment. However, long-term, large, randomized controlled studies are still lacking, and certainties and doubts regarding LFDs have grown, often in a disorderly and confused manner. Some potential LFD limitations and concerns have been raised, including nutritional adequacy, cost, and difficulty in teaching the diet and maintaining it. Most of these limitations can be solved with the involvement of a skilled nutritionist, who can clearly explain the different phases of the LFD and ensure nutritional adequacy and compliance. Further studies should focus on new methods of teaching and learning the LFD and on predictors of response. Moreover, particular interest should be focused on the possible use of LFD in gastrointestinal diseases other than functional disorders and, possibly, also in non-gastrointestinal diseases. The aim of the present review was to clarify the effective and appropriate indications and limitations of an LFD and to discuss its possible future uses.

2 Review Gastroesophageal reflux disease, functional dyspepsia and irritable bowel syndrome: common overlapping gastrointestinal disorders. 2018

de Bortoli, Nicola / Tolone, Salvatore / Frazzoni, Marzio / Martinucci, Irene / Sgherri, Giulia / Albano, Eleonora / Ceccarelli, Linda / Stasi, Cristina / Bellini, Massimo / Savarino, Vincenzo / Savarino, Edoardo V / Marchi, Santino. ·Gastroenterology Unit, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa (Nicola de Bortoli, Giulia Sgherri, Eleonora Albano, Linda Ceccarelli, Massimo Bellini, Santino Marchi), Caserta, Italy. · Surgery Unit, Department of Surgery, University of Campania Luigi Vanvitelli, Caserta (Salvatore Tolone), Italy. · Division of Pathophysiology, Baggiovara Hospital, Modena (Marzio Frazzoni), Italy. · Division of Gastroenterology, Versilia Hospital, Lido di Camaiore-Lucca (Irene Martinucci), Italy. · Internal Medicine and Liver Unit, Department of Experimental and Clinical Medicine, Careggi University Hospital, Florence (Cristina Stasi), Italy. · Gastroenterology Unit, Department of Internal Medicine, University of Genoa (Vincenzo Savarino), Italy. · Gastroenterology Unit, Department Surgery, Oncology and Gastroenterology, University of Padua (Edoardo V. Savarino), Italy. ·Ann Gastroenterol · Pubmed #30386113.

ABSTRACT: Several studies have indicated an overlap between gastroesophageal reflux disease (GERD) and various functional gastrointestinal disorders (FGIDs). The overlapping conditions reported have mainly been functional dyspepsia (FD) and irritable bowel syndrome (IBS). The available literature is frequently based on symptomatic questionnaires or endoscopic procedures to diagnose GERD. Rarely, among patients with heartburn, pathophysiological evaluations have been considered to differentiate those with proven GERD from those without. Moreover, both GERD and IBS or FD showed enormous heterogeneity in terms of the criteria and diagnostic procedures used. The GERD-IBS overlap ranges from 3-79% in questionnaire-based studies and from 10-74% when GERD has been diagnosed endoscopically. The prevalence of functional dyspepsia (after normal upper endoscopy) is 12-15% and an overlap with GERD has been reported frequently. Only a few studies have considered a potential overlap between functional heartburn (FH) and IBS using a 24-h pH-metry or impedance-pH evaluation. Similar data has been reported for an overlap between FH and FD. Recently, a revision of the Rome criteria for esophageal FGIDs identified both FH and hypersensitive esophagus (HE) as potential functional esophageal disorders. This might increase the potential overlap between different FGIDs, with FH and HE rather than with GERD. The aim of the present review article was to appraise and discuss the current evidence supporting the possible concomitance of GERD with IBS and FD in the same patients and to evaluate how various GERD treatments could impact on the quality of life of these patients.

3 Review Irritable bowel syndrome and chronic constipation: Fact and fiction. 2015

Bellini, Massimo / Gambaccini, Dario / Usai-Satta, Paolo / De Bortoli, Nicola / Bertani, Lorenzo / Marchi, Santino / Stasi, Cristina. ·Massimo Bellini, Dario Gambaccini, Nicola De Bortoli, Lorenzo Bertani, Santino Marchi, Gastrointestinal Unit, Department of Gastroenterology, University of Pisa, 56124 Pisa, Italy. ·World J Gastroenterol · Pubmed #26523103.

ABSTRACT: Irritable bowel syndrome (IBS) and functional constipation (FC) are the most common functional gastrointestinal disorders. According to the Rome III Criteria these two disorders should be theoretically separated mainly by the presence of abdominal pain or discomfort relieved by defecation (typical of IBS) and they should be mutually exclusive. However, many gastroenterologists have serious doubts as regards a clear separation. Both IBS-C and FC, often associated with many other functional digestive and non digestive disorders, are responsible for a low quality of life. The impact of the media on patients' perception of these topics is sometimes disruptive, often suggesting a distorted view of pathophysiology, diagnosis and therapy. These messages frequently overlap with previous subjective opinions and are further processed on the basis of the different culture and the previous experience of the constipated patients, often producing odd, useless or even dangerous behaviors. The aim of this review was to analyze the most common patients' beliefs about IBS-C and CC, helping physicians to understand where they should focus their attention when communicating with patients, detecting false opinions and misconceptions and correcting them on the basis of scientific evidence.

4 Review Genetics and pharmacogenetics of aminergic transmitter pathways in functional gastrointestinal disorders. 2015

Martinucci, Irene / Blandizzi, Corrado / de Bortoli, Nicola / Bellini, Massimo / Antonioli, Luca / Tuccori, Marco / Fornai, Matteo / Marchi, Santino / Colucci, Rocchina. ·Gastroenterology Unit, Department of Translational Research & New Technologies in Medicine, University of Pisa, Via Paradisa 2, I-56124 Pisa, Italy. ·Pharmacogenomics · Pubmed #25916523.

ABSTRACT: Functional gastrointestinal disorders (FGIDs) are highly prevalent syndromes, without evident underlying organic causes. Their pathogenesis is multifactorial in nature, with a combination of environmental and genetic factors contributing to their clinical manifestations, for which most of current treatments are not satisfactory. It is acknowledged that amine mediators (noradrenaline, dopamine and serotonin) play pivotal regulatory actions on gut functions and visceral sensation. In addition, drugs of therapeutic interest for FGIDs act on these transmitter pathways. The present article reviews current knowledge on the impact of genetics and pharmacogenetics of aminergic pathways on FGID pathophysiology, clinical presentations, symptom severity and medical management, in an attempt of highlighting the most relevant evidence and point out issues that should be addressed in future investigations.

5 Review Irritable bowel syndrome: a disease still searching for pathogenesis, diagnosis and therapy. 2014

Bellini, Massimo / Gambaccini, Dario / Stasi, Cristina / Urbano, Maria Teresa / Marchi, Santino / Usai-Satta, Paolo. ·Massimo Bellini, Dario Gambaccini, Maria Teresa Urbano, Santino Marchi, Gastrointestinal Unit, Department of Gastroenterology, University of Pisa, 56124 Pisa, Italy. ·World J Gastroenterol · Pubmed #25083055.

ABSTRACT: Irritable bowel syndrome (IBS) is the most frequently diagnosed functional gastrointestinal disorder in primary and secondary care. It is characterised by abdominal discomfort, pain and changes in bowel habits that can have a serious impact on the patient's quality of life. The pathophysiology of IBS is not yet completely clear. Genetic, immune, environmental, inflammatory, neurological and psychological factors, in addition to visceral hypersensitivity, can all play an important role, one that most likely involves the complex interactions between the gut and the brain (gut-brain axis). The diagnosis of IBS can only be made on the basis of the symptoms of the Rome III criteria. Because the probability of organic disease in patients fulfilling the IBS criteria is very low, a careful medical history is critical and should pay particular attention to the possible comorbidities. Nevertheless, the severity of the patient's symptoms or concerns sometimes compels the physician to perform useless and/or expensive diagnostic tests, transforming IBS into a diagnosis of exclusion. The presence of alarming symptoms (fever, weight loss, rectal bleeding, significant changes in blood chemistry), the presence of palpable abdominal masses, any recent onset of symptoms in patient aged over 50 years, the presence of symptoms at night, and a familial history of celiac disease, colorectal cancer and/or inflammatory bowel diseases all warrant investigation. Treatment strategies are based on the nature and severity of the symptoms, the degree of functional impairment of the bowel habits, and the presence of psychosocial disorders. This review examines and discusses the pathophysiological aspects and the diagnostic and therapeutic approaches available for patients with symptoms possibly related to IBS, pointing out controversial issues and the strengths and weaknesses of the current knowledge.

6 Review Overlap of functional heartburn and gastroesophageal reflux disease with irritable bowel syndrome. 2013

de Bortoli, Nicola / Martinucci, Irene / Bellini, Massimo / Savarino, Edoardo / Savarino, Vincenzo / Blandizzi, Corrado / Marchi, Santino. ·Nicola de Bortoli, Irene Martinucci, Massimo Bellini, Santino Marchi, Division of Gastroenterology, University of Pisa, 56124 Pisa, Italy. ·World J Gastroenterol · Pubmed #24124323.

ABSTRACT: Several studies indicate a significant degree of overlap between irritable bowel syndrome (IBS) and gastroesophageal reflux disease (GERD). Likewise, both functional heartburn (FH) and IBS are functional digestive disorders that may occur in the same patients. However, data establishing a solid link between FH and IBS are lacking, mainly because the clinical definition of FH has undergone substantial changes over the years. The available literature on the overlap between GERD or FH and IBS highlights considerable heterogeneity in terms of the criteria and diagnostic procedures used to assess heartburn and IBS. In particular, several epidemiological studies included patients with concomitant IBS and GERD without any attempt to distinguish FH (as defined by the Rome III criteria) from GERD via pathophysiological investigations. Independent of these critical issues, there is preliminary evidence supporting a significant degree of FH-IBS overlap. This underscores the need for studies based on updated diagnostic criteria and accurate pathophysiological classifications, particularly to distinguish FH from GERD. This distinction would represent an essential starting point to achieving a better understanding of pathophysiology in the subclasses of patients with GERD and FH and properly assessing the different degrees of overlap between IBS and the subcategories of heartburn.The present review article intends to appraise and critically discuss current evidence supporting a possible concomitance of GERD or FH with IBS in the same patients and to highlight the pathophysiological relationships between these disorders.

7 Article The complex interplay between gastrointestinal and psychiatric symptoms in irritable bowel syndrome: A longitudinal assessment. 2019

Stasi, Cristina / Caserta, Anna / Nisita, Cristiana / Cortopassi, Sonia / Fani, Bernardo / Salvadori, Stefano / Pancetti, Andrea / Bertani, Lorenzo / Gambaccini, Dario / de Bortoli, Nicola / Dell'Osso, Liliana / Blandizzi, Corrado / Marchi, Santino / Bellini, Massimo. ·Internal Medicine and Liver Unit, Department of Experimental and Clinical Medicine, Careggi University Hospital, Florence, Italy. · Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. · Gastrointestinal Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. · Institute of Clinical Physiology, CNR, Pisa, Italy. · Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. ·J Gastroenterol Hepatol · Pubmed #29971822.

ABSTRACT: AIMS: The aims of this study were to better define the relationship between irritable bowel syndrome (IBS) and psychiatric disorders and to examine the efficacy of paroxetine in the treatment of IBS patients. METHODS: One hundred fifty subjects with diagnosis of IBS (Roma III criteria) and relative sub-classification (constipated, diarrhea, and mixed) were assessed for psychopathological features and gastrointestinal symptoms using IBS Symptom Severity Score and were consecutively enrolled. Fifty patients assumed paroxetine for 16 weeks and were longitudinally evaluated. RESULTS: The entire sample had a moderate/severe gastrointestinal symptomatology (IBS-SSS 285.1 ± 98.6). The IBS subtypes were diarrhea (47.3%), constipated (32%), and mixed (20.7%). Panic disorder was found in 17.4% and major depressive episode in 14.7%. More than 50% of the patients showed "psychopathological features." This group showed more severe gastrointestinal symptoms and worse quality of life than the group without any psychiatric comorbidity (44%). Psychiatric patients also showed a significant impairment of physical state, subjective feeling of well-being, and leisure activities when compared with no psychiatric patients. When the IBS-SSS > 300 group was subgrouped in psychiatric (67.2%) and no psychiatric (32.8%), we found significant differences in all clinician-administered and self-reported scales with more severe psychopathological features in psychiatric group (P < 0.01). Among the patients treated with paroxetine, 34 (68%) completed the longitudinal evaluation showing a significant improvement of both psychiatric and gastrointestinal symptoms. CONCLUSIONS: This study confirms a high presence of psychiatric comorbidities, emphasizing the need for psychiatric screening in all patients with IBS; moreover, the longitudinal evaluation of patients treated with paroxetine showed a significant improvement of both psychiatric and gastrointestinal symptoms.

8 Article Fecal Clostridiales distribution and short-chain fatty acids reflect bowel habits in irritable bowel syndrome. 2018

Gargari, Giorgio / Taverniti, Valentina / Gardana, Claudio / Cremon, Cesare / Canducci, Filippo / Pagano, Isabella / Barbaro, Maria Raffaella / Bellacosa, Lara / Castellazzi, Anna Maria / Valsecchi, Chiara / Tagliacarne, Sara Carlotta / Bellini, Massimo / Bertani, Lorenzo / Gambaccini, Dario / Marchi, Santino / Cicala, Michele / Germanà, Bastianello / Dal Pont, Elisabetta / Vecchi, Maurizio / Ogliari, Cristina / Fiore, Walter / Stanghellini, Vincenzo / Barbara, Giovanni / Guglielmetti, Simone. ·Division of Food Microbiology and Bioprocesses, Department of Food, Environmental and Nutritional Sciences, University of Milan, Milan, Italy. · Department of Medical and Surgical Sciences, Centre for Applied Biomedical Research, University of Bologna, Bologna, Italy. · Dipartimento di biotecnologie e scienze della vita, Università degli Studi dell'Insubria, Varese, Italy. · Department of Clinical Surgical Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy. · Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. · Gastroenterology Unit, Department of Gastroenterology, University of Pisa, Pisa, Italy. · Gastroenterology Unit, University Campus Bio-Medico of Rome, Rome, Italy. · Gastroenterology Unit, S. Martino Hospital, Belluno, Italy. · Gastroenterology and Digestive Endoscopy Unit, IRCCS Policlinico San Donato, San Donato, Milanese, Italy. · Sofar S.p.A, Trezzano Rosa, Italy. ·Environ Microbiol · Pubmed #29749705.

ABSTRACT: Irritable bowel syndrome (IBS), a common functional gastrointestinal disorder, is classified according to bowel habits as IBS with constipation (IBS-C), with diarrhea (IBS-D), with alternating constipation and diarrhea (IBS-M), and unsubtyped (IBS-U). The mechanisms leading to the different IBS forms are mostly unknown. This study aims to evaluate whether specific fecal bacterial taxa and/or short-chain fatty acids (SCFAs) can be used to distinguish IBS subtypes and are relevant for explaining the clinical differences between IBS subcategories. We characterized five fecal samples collected at 4-weeks intervals from 40 IBS patients by 16S rRNA gene profiling and SCFA quantification. Finally, we investigated the potential correlations in IBS subtypes between the fecal microbial signatures and host physiological and clinical parameters. We found significant differences in the distribution of Clostridiales OTUs among IBS subtypes and reduced levels of SCFAs in IBS-C compared to IBS-U and IBS-D patients. Correlation analyses showed that the diverse representation of Clostridiales OTUs between IBS subtypes was associated with altered levels of SCFAs; furthermore, the same OTUs and SCFAs were associated with the fecal cytokine levels and stool consistency. Our results suggest that intestinal Clostridiales and SCFAs might serve as potential mechanistic biomarkers of IBS subtypes and represent therapeutic targets.

9 Article Bioelectrical impedance vector analysis in patients with irritable bowel syndrome on a low FODMAP diet: a pilot study. 2017

Bellini, M / Gambaccini, D / Bazzichi, L / Bassotti, G / Mumolo, M G / Fani, B / Costa, F / Ricchiuti, A / De Bortoli, N / Mosca, M / Marchi, S / Rossi, A. ·Gastrointestinal Unit, Department of Gastroenterology, University of Pisa, Via Paradisa no. 2, 56100, Pisa, Italy. mbellini@med.unipi.it. · Gastrointestinal Unit, Department of Gastroenterology, University of Pisa, Via Paradisa no. 2, 56100, Pisa, Italy. · Division of Rheumatology, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. · Gastroenterology and Hepatology Section, Department of Medicine, University of Perugia Medical School, Perugia, Italy. ·Tech Coloproctol · Pubmed #28567692.

ABSTRACT: BACKGROUND: The aim of this study was to determine the effects of a low fermentable oligo-, di- and monosaccharides and polyols (FODMAP) diet on the nutritional status and body composition, abdominal symptoms, quality of life, anxiety/depression and sleep quality of patients with irritable bowel syndrome (IBS). METHODS: Consecutive patients were given a low FODMAP diet for 8 weeks. At baseline and after 8 weeks, blood tests were taken to evaluate nutritional status and a bioelectrical impedance analysis was performed to assess body composition. Anthropometric data, IBS Symptom Severity Score, results of a bowel habits questionnaire, Bristol Stool Chart classification, SF36, Hamilton Depression Anxiety Scale outcome and Pittsburgh Sleep Quality Index were also recorded. During the 8-week diet period, the patients were phoned periodically by the nutritionist to verify their compliance. RESULTS: Twenty-six IBS patients with a mean age of 46.2 ± 13.8 years were studied. After 8 weeks, there were no abnormalities in anthropometric data, bioelectrical impedance parameters and blood tests. The patients' IBS Symptom Severity Score improved (305.2 ± 84.1 vs 156.3 ± 106.4; p < 0.0001), as did bowel habits, Bristol Stool Chart classification, quality of life and HADS anxiety score, whereas sleeping quality and depression were unchanged. The degree of relief from symptoms and satisfaction with the diet was high. CONCLUSIONS: A low FODMAP diet improved IBS symptoms without effects on nutritional status and body composition.

10 Article Neuroendocrine Dysregulation in Irritable Bowel Syndrome Patients: A Pilot Study. 2017

Stasi, Cristina / Bellini, Massimo / Gambaccini, Dario / Duranti, Emiliano / de Bortoli, Nicola / Fani, Bernardo / Albano, Eleonora / Russo, Salvatore / Sudano, Isabella / Laffi, Giacomo / Taddei, Stefano / Marchi, Santino / Bruno, Rosa Maria. ·Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy. · Gastrointestinal Unit, Department of Gastroenterology, University of Pisa, Pisa, Italy. · Gastrointestinal Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. · Cardiovascular Center, University Hospital, Zürich, Switzerland. ·J Neurogastroenterol Motil · Pubmed #28460516.

ABSTRACT: Background/Aims: Irritable bowel syndrome (IBS) is a multifactorial disorder, involving dysregulation of brain-gut axis. Our aim was to evaluate the neuroendocrine activity in IBS. Methods: Thirty IBS and 30 healthy volunteers were enrolled. Psychological symptoms were evaluated by questionnaires. Urinary 5-hydroxyindoleacetic acid, plasma serotonin (5-hydroxytryptamine, 5-HT), endothelin, and neuropeptide Y (NPY), and plasma and urinary cortisol levels were evaluated. Fourteen IBS subjects underwent microneurography to obtain multiunit recordings of efferent postganglionic muscle sympathetic nerve activity (MSNA). Results: Prevalent psychological symptoms in IBS were maladjustment (60%), trait (40%) and state (17%) anxiety, obsessive compulsive-disorders (23%), and depressive symptoms (23%). IBS showed increased NPY (31.9 [43.7] vs 14.8 [18.1] pmol/L, Conclusion: Higher concentrations of endothelin, NPY, and 5-HT were found to be associated with some psychological disorders in IBS patients together with an altered cardiovascular autonomic reactivity to acute stressors compared to healthy volunteers.

11 Article Functional Heartburn Overlaps With Irritable Bowel Syndrome More Often than GERD. 2016

de Bortoli, Nicola / Frazzoni, Leonardo / Savarino, Edoardo V / Frazzoni, Marzio / Martinucci, Irene / Jania, Aleksandra / Tolone, Salvatore / Scagliarini, Michele / Bellini, Massimo / Marabotto, Elisa / Furnari, Manuele / Bodini, Giorgia / Russo, Salvatore / Bertani, Lorenzo / Natali, Veronica / Fuccio, Lorenzo / Savarino, Vincenzo / Blandizzi, Corrado / Marchi, Santino. ·Department of Translational Research and New Technology in Medicine and Surgery, Division of Gastroenterology, University of Pisa, Cisanello Hospital, Pisa, Italy. · Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy. · Department of Surgery, Oncology and Gastroenterology, Division of Gastroenterology, University of Padua, Padua, Italy. · Digestive Pathophysiology Unit, Baggiovara Hospital, Modena, Italy. · Jagiellonian University, Cracow, Poland. · Department of Surgery, Division of Surgery, Second University of Naples, Naples, Italy. · Department of Statistics, University of Bologna, Bologna, Italy. · Department of Internal Medicine (DIMI), Division of Gastroenterology, University of Genoa, Genoa, Italy. · Department of Internal Medicine, Division of Pharmacology and Chemotherapy, University of Pisa, Pisa, Italy. ·Am J Gastroenterol · Pubmed #27644732.

ABSTRACT: OBJECTIVES: We aimed to evaluate the prevalence of irritable bowel syndrome (IBS) in patients with typical reflux symptoms as distinguished into gastroesophageal reflux disease (GERD), hypersensitive esophagus (HE), and functional heartburn (FH) by means of endoscopy and multichannel intraluminal impedance (MII)-pH monitoring. The secondary aim was to detect pathophysiological and clinical differences between different sub-groups of patients with heartburn. METHODS: Patients underwent a structured interview based on questionnaires for GERD, IBS, anxiety, and depression. Off-therapy upper-gastrointestinal (GI) endoscopy and 24 h MII-pH monitoring were performed in all cases. In patients with IBS, fecal calprotectin was measured and colonoscopy was scheduled for values >100 mg/kg to exclude organic disease. Multivariate logistic regression analysis was performed to identify independent risk factors for FH. RESULTS: Of the 697 consecutive heartburn patients who entered the study, 454 (65%) had reflux-related heartburn (GERD+HE), whereas 243 (35%) had FH. IBS was found in 147/454 (33%) GERD/HE but in 187/243 (77%) FH patients (P<0.001). At multivariate analysis, IBS and anxiety were independent risk factors for FH in comparison with reflux-related heartburn (GERD+HE). CONCLUSIONS: IBS overlaps more frequently with FH than with GERD and HE, suggesting common pathways and treatment. HE showed intermediate characteristic between GERD and FH.

12 Article Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts. 2015

Ek, Weronica E / Reznichenko, Anna / Ripke, Stephan / Niesler, Beate / Zucchelli, Marco / Rivera, Natalia V / Schmidt, Peter T / Pedersen, Nancy L / Magnusson, Patrik / Talley, Nicholas J / Holliday, Elizabeth G / Houghton, Lesley / Gazouli, Maria / Karamanolis, George / Rappold, Gudrun / Burwinkel, Barbara / Surowy, Harald / Rafter, Joseph / Assadi, Ghazaleh / Li, Ling / Papadaki, Evangelia / Gambaccini, Dario / Marchi, Santino / Colucci, Rocchina / Blandizzi, Corrado / Barbaro, Raffaella / Karling, Pontus / Walter, Susanna / Ohlsson, Bodil / Tornblom, Hans / Bresso, Francesca / Andreasson, Anna / Dlugosz, Aldona / Simren, Magnus / Agreus, Lars / Lindberg, Greger / Boeckxstaens, Guy / Bellini, Massimo / Stanghellini, Vincenzo / Barbara, Giovanni / Daly, Mark J / Camilleri, Michael / Wouters, Mira M / D'Amato, Mauro. ·Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden. · Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. · Department of Human Molecular Genetics, Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany. · Department of Gastroenterology and Hepatology, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden. · Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden. · Faculty of Health and Medicine, University of Newcastle, Newcastle, New South Wales, Australia. · Faculty of Medical and Human Sciences, Institute of Inflammation and Repair, University of Manchester, Manchester, UK Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, Florida, USA. · Laboratory of Biology, School of Medicine, University of Athens, Athens, Greece. · Academic Department of Gastroenterology, School of Medicine, University of Athens, Athens, Greece. · Molecular Epidemiology Group, German Cancer Research Centre (DKFZ) Heidelberg, Heidelberg, Germany Division of Molecular Biology of Breast Cancer, Department of Gynaecology and Obstetrics, University Women's Clinic, University Heidelberg, Heidelberg, Germany. · Gastroenterology Unit, Department of Gastroenterology, University of Pisa, Pisa, Italy. · Division of Pharmacology and Chemotherapy, Department of Clinical and Experimental Medicine University of Pisa, Pisa, Italy. · Department of Medical and Surgical Sciences, University of Bologna, St. Orsola-Malpighi Hospital, Bologna, Italy. · Department of Medicine, Umeå, University, Umeå, Sweden. · Division of Gastroenterology, Institution of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden. · Department of Clinical Sciences, Skånes University Hospital, Malmoe, Sweden. · Department of Internal Medicine & Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. · Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden Department of Gastroenterology and Hepatology, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden. · Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden Stress Research Institute, Stockholm University, Stockholm, Sweden. · Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden. · Translational Research Center for Gastrointestinal Disorders, Leuven University, Leuven, Belgium. · Clinical Enteric Neuroscience Translational and Epidemiological Research, Mayo Clinic, Rochester, Minnesota, USA. ·Gut · Pubmed #25248455.

ABSTRACT: OBJECTIVE: IBS shows genetic predisposition, but adequately powered gene-hunting efforts have been scarce so far. We sought to identify true IBS genetic risk factors by means of genome-wide association (GWA) and independent replication studies. DESIGN: We conducted a GWA study (GWAS) of IBS in a general population sample of 11,326 Swedish twins. IBS cases (N=534) and asymptomatic controls (N=4932) were identified based on questionnaire data. Suggestive association signals were followed-up in 3511 individuals from six case-control cohorts. We sought genotype-gene expression correlations through single nucleotide polymorphism (SNP)-expression quantitative trait loci interactions testing, and performed in silico prediction of gene function. We compared candidate gene expression by real-time qPCR in rectal mucosal biopsies of patients with IBS and controls. RESULTS: One locus at 7p22.1, which includes the genes KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) and GRID2IP (glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein), showed consistent IBS risk effects in the index GWAS and all replication cohorts and reached p=9.31×10(-6) in a meta-analysis of all datasets. Several SNPs in this region are associated with cis effects on KDELR2 expression, and a trend for increased mucosal KDLER2 mRNA expression was observed in IBS cases compared with controls. CONCLUSIONS: Our results demonstrate that general population-based studies combined with analyses of patient cohorts provide good opportunities for gene discovery in IBS. The 7p22.1 and other risk signals detected in this study constitute a good starting platform for hypothesis testing in future functional investigations.

13 Article Management of chronic constipation in general practice. 2014

Bellini, M / Gambaccini, D / Salvadori, S / Tosetti, C / Urbano, M T / Costa, F / Monicelli, P / Mumolo, M G / Ricchiuti, A / De Bortoli, N / Marchi, S. ·Gastrointestinal Unit, Department of Gastroenterology, University of Pisa, Via Paradisa No. 2, 56100, Pisa, Italy, mbellini@med.unipi.it. ·Tech Coloproctol · Pubmed #24272606.

ABSTRACT: BACKGROUND: Chronic constipation is often diagnosed and treated by general practitioners (GPs). The aim of the study was to evaluate the management of constipation by a cohort of Italian GPs. METHODS: Over the course of 1 month, 41 GPs recorded tests and therapies suggested to patients complaining of chronic constipation. They were classified according to the Rome III criteria as constipated irritable bowel syndrome (C-IBS), functional constipation (FC), or "self-perceived constipation" (SPC) (not consistent with the Rome criteria). RESULTS: The most frequently prescribed tests for the 229 patients (147 FC, 50 C-IBS, 32 SPC) were routine blood tests (59.3 %), abdominal ultrasounds (37.2 %), thyroid function (36.7 %), fecal occult blood tests (36.7 %), and tumor markers (35 %). Patient sex and age, GP age, and whether the diagnosis was new influenced the GP's request, but FC, C-IBS, or SPC status did not. Dietary suggestions (81.9 %), fiber supplements (59.7 %), reassurance (50.9 %), and laxatives (30.5 %) were the most frequently prescribed treatments. Antispasmodics were more frequently suggested for C-IBS patients; dietary suggestions, fiber, and enemas were more frequently prescribed in SPC patients. Patient and GP age and whether the diagnosis was new influenced the GP's choice of treatment. CONCLUSIONS: The Rome III criteria do not influence diagnostic strategies and only slightly influence therapeutic strategies of GPs. Other factors (age, gender, new or old diagnosis) have more influence on GPs choice of investigations and treatment.

14 Article Symptom patterns can distinguish diverticular disease from irritable bowel syndrome. 2013

Cuomo, Rosario / Barbara, Giovanni / Andreozzi, Paolo / Bassotti, Gabrio / Casetti, Tino / Grassini, Mario / Ierardi, Enzo / Maconi, Giovanni / Marchi, Santino / Sarnelli, Giovanni / Savarino, Vincenzo / Usai, Paolo / Vozzella, Letizia / Annibale, Bruno. ·Department of Clinical Medicine and Surgery, 'Federico II' University, Naples, Italy. ·Eur J Clin Invest · Pubmed #23992370.

ABSTRACT: BACKGROUND: Diverticular disease (DD) and irritable bowel syndrome (IBS) share a similar symptom pattern. However, comparative studies are flawed by different age at onset of symptoms. We aimed to verify whether clinical features distinguish DD from IBS. MATERIALS AND METHODS: Patients with DD or IBS, matched for age and gender (1/1) were consecutively recruited. Data on demographic parameters, voluptuary habits, inheritance of disease and symptoms were collected. Moreover, the association between pain > 24 h, and clinical parameters were evaluated. RESULTS: Ninety patients with DD and 90 patients with IBS (DD: F/M: 46/44; age: 50.9 years; IBS: 46/44; 50.4) were selected from an overall population of 1275 patients. Only nine patients with DD (10%) fulfilled the criteria for IBS diagnosis. Abdominal pain > 24 h was more prevalent in SDD than in patients with IBS (20 vs. 6 patients; P < 0.01). Furthermore, compared with IBS, patients with DD showed more episodes of pain > 24 h requiring medical attention (80% vs. 33%; P < 0.01). CONCLUSIONS: Abdominal pain lasting for more than 24 h discriminates patients with DD compared with those with IBS. Identifying this symptom could be an appropriate strategy to define the diagnosis and management.

15 Article Influence of the serotonin transporter 5HTTLPR polymorphism on symptom severity in irritable bowel syndrome. 2013

Colucci, Rocchina / Gambaccini, Dario / Ghisu, Narcisa / Rossi, Giuseppe / Costa, Francesco / Tuccori, Marco / De Bortoli, Nicola / Fornai, Matteo / Antonioli, Luca / Ricchiuti, Angelo / Mumolo, Maria Gloria / Marchi, Santino / Blandizzi, Corrado / Bellini, Massimo. ·Division of Pharmacology and Chemotherapy, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. ·PLoS One · Pubmed #23393559.

ABSTRACT: 5HTTLPR polymorphism of serotonin transporter yields short (S) and long (L) alleles. SS and LS genotypes are associated with reduced expression of serotonin transporter. This cross-sectional study investigated the association of 5HTTLPR with symptom severity of irritable bowel syndrome (IBS). Patients with IBS (Rome III) and healthy controls were included. Genomic DNA was extracted from saliva, and 5HTTLPR alleles were assessed by polymerase chain reaction. IBS symptom severity was evaluated by means of IBS-SSS questionnaire. Two hundreds and four IBS patients (159 females; mean age: 39.6±12.3 years; 106 with constipation: C-IBS; 98 with diarrhea: D-IBS) and 200 healthy controls (154 females; mean age: 40.4±15.8 years) were enrolled. The overall IBS-SSS value was higher in LS/SS than LL patients (319.0±71.5 versus 283.8±62.3; P = 0.0006). LS/SS patients had also higher values of abdominal pain (59.7±21.0 versus 51.0±18.8; P = 0.020) and bowel dissatisfaction (80.1±23.9 versus 70.5±22.8; P = 0.035). The overall IBS-SSS values in C-IBS and D-IBS patients were 317.2±68.3 and 296.1±71.4, respectively (P = 0.192), with significantly higher values for abdominal distension (65.0±24.4 versus 51.4±24.8; P = 0.0006), but not for bowel dissatisfaction (80.5±21.7 versus 72.9±25.7; P = 0.138). Frequencies of 5HTTLPR genotypes did not differ significantly when comparing IBS patients (overall or upon stratification in C-IBS and D-IBS) with healthy controls. In conclusion, the LS and SS genotypes are significantly correlated with IBS symptom severity, although their possible direct causal role remains to be proven. In addition, the present findings do not support an association of 5HTTLPR with IBS or its clinical presentation in terms of bowel habit predominance.

16 Article Neuroendocrine markers and psychological features in patients with irritable bowel syndrome. 2013

Stasi, Cristina / Bellini, Massimo / Costa, Francesco / Mumolo, Maria Gloria / Ricchiuti, Angelo / Grosso, Mariano / Duranti, Emiliano / Metelli, Maria Rosaria / Gambaccini, Dario / Bianchi, Lea / Di Tanna, Gian Luca / Laffi, Giacomo / Taddei, Stefano / Marchi, Santino. ·Department of Internal Medicine, University of Florence, Florence, Italy. cristina.stasi@unifi.it ·Int J Colorectal Dis · Pubmed #23377858.

ABSTRACT: BACKGROUND AND AIMS: The key role of the brain-gut axis in the pathophysiology of irritable bowel syndrome (IBS) has been recognized. The aim of this study was to assess the possible association between IBS, neuroendocrine markers, and psychological features. METHODS: One hundred and twenty-five consecutive IBS patients and 105 healthy subjects were enrolled. Plasma serotonin, plasma and urinary cortisol, and plasma neuropeptide Y levels were evaluated. All patients were given a questionnaire to assess IBS symptom severity. In 66 patients, a psychodiagnostic assessment was carried out. RESULTS: A high incidence of specific psychological features, including state anxiety (69.69 %), trait anxiety (54.54 %), obsessions and compulsions (28.78 %), was observed in IBS patients. A positive correlation between neuropeptide Y and state anxiety (r = 0.287, p = 0.024) and simulation/social ingenuity (r = 0.269, p = 0.039) was found in these patients. In diarrhea-predominant IBS, plasma cortisol was linearly related to plasma serotonin (r = 0.5663, p < 0.001). CONCLUSIONS: In IBS patients, a significant correlation was found between specific psychological features and neuroendocrine markers, especially plasma cortisol and neuropeptide Y; in diarrhea-predominant IBS, a correlation between plasma cortisol and serotonin was found, although it needs to be confirmed in more extensive cohorts.

17 Article Clinical features of symptomatic uncomplicated diverticular disease: a multicenter Italian survey. 2012

Annibale, Bruno / Lahner, Edith / Maconi, Giovanni / Usai, Paolo / Marchi, Santino / Bassotti, Gabrio / Barbara, Giovanni / Cuomo, Rosario. ·Department of Digestive and Liver Disease, University Sapienza, Sant'Andrea Hospital, Rome, Italy. bruno.annibale@uniroma1.it ·Int J Colorectal Dis · Pubmed #22573184.

ABSTRACT: PURPOSE: Clinical features of symptomatic uncomplicated diverticular disease are poorly investigated. Abdominal symptoms may be similar to those of irritable bowel syndrome. This survey aimed to assess clinical features associated with symptomatic uncomplicated diverticular disease. METHODS: This multicenter survey included consecutive outpatients with symptomatic uncomplicated diverticular disease to whom a detailed clinical questionnaire regarding demographic, lifestyle, and clinical features was administered. Diagnosis was based on the presence of diverticula and abdominal pain/discomfort. Irritable bowel syndrome and functional dyspepsia were assessed according to Rome III criteria. RESULTS: A total of 598 patients (50 % female, age 69 years), 71 % with newly diagnosed symptomatic uncomplicated diverticular disease and 29 % with history of colonic diverticula, were recruited. Diverticula were localized in the left colon in 78 % of the patients. Recurrent short-lived abdominal pain (<24 h) was present in 70 % (relieved by evacuation in 73 %), prolonged abdominal pain (>24 h) in 27 %, and recurrent abdominal bloating in 61 % of the patients. Normal, loose, or hard stools were reported by 58, 29, and 13 % of patients, respectively. Irritable bowel syndrome (IBS)-like and functional dyspepsia-like symptoms were recorded in 59 and 7 % of patients, respectively. IBS-like symptoms (odds ratio, 4.3) were associated in patients with prolonged abdominal pain. CONCLUSIONS: Symptomatic uncomplicated diverticular disease is associated with a gender ratio of 1:1 and an unspecific clinical picture mainly characterized by normal stools, short-lived abdominal pain, abdominal bloating, IBS-like symptoms, while functional dyspepsia-like symptoms are not commonly present. These findings suggest that symptomatic uncomplicated diverticular disease often shows similar findings rather than overlaps IBS.

18 Article Evaluation of latent links between irritable bowel syndrome and sleep quality. 2011

Bellini, Massimo / Gemignani, Angelo / Gambaccini, Dario / Toti, Simona / Menicucci, Danilo / Stasi, Cristina / Costa, Francesco / Mumolo, Maria Gloria / Ricchiuti, Angelo / Bedini, Remo / de Bortoli, Nicola / Marchi, Santino. ·Gastrointestinal Unit, Department of Gastroenterology, University of Pisa, 56100 Pisa, Italy. mbellini@med.unipi.it ·World J Gastroenterol · Pubmed #22171143.

ABSTRACT: AIM: To examine the links between quality of sleep and the severity of intestinal symptoms in irritable bowel syndrome (IBS). METHODS: One hundred and forty-two outpatients (110 female, 32 male) who met the Rome III criteria for IBS with no psychiatric comorbidity were consecutively enrolled in this study. Data on age, body mass index (BMI), and a set of life-habit variables were recorded, and IBS symptoms and sleep quality were evaluated using the questionnaires IBS Symptom Severity Score (IBS-SSS) and Pittsburgh Sleep Quality Index (PSQI). The association between severity of IBS and sleep disturbances was evaluated by comparing the global IBS-SSS and PSQI score (Pearson's correlation and Fisher's exact test) and then analyzing the individual items of the IBS-SSS and PSQI questionnaires by a unitary bowel-sleep model based on item response theory (IRT). RESULTS: IBS-SSS ranged from mild to severe (120-470). The global PSQI score ranged from 1 to 17 (median 5), and 60 patients were found to be poor sleepers (PSQI > 5). The correlation between the global IBS-SSS and PSQI score indicated a weak association (r = 0.2 and 95% CI: -0.03 to 0.35, P < 0.05), which becomes stronger using our unitary model. Indeed, the IBS and sleep disturbances severities, estimated as latent variables, resulted significantly high intra-subject correlation (posterior mean of r = 0.45 and 95% CI: 0.17 to 0.70, P < 0.05). Moreover, the correlations between patient features (age, sex, BMI, daily coffee and alcohol intake) and IBS and sleep disturbances were also analyzed through our unitary model. Age was a significant regressor, with patients ≤ 50 years old showing more severe bowel disturbances (posterior mean = -0.38, P < 0.05) and less severe sleep disturbances (posterior mean = 0.49, P < 0.05) than older patients. Higher daily coffee intake was correlated with a lower severity of bowel disturbances (posterior mean = -0.31, P < 0.05). Sex (female) and daily alcohol intake (modest) were correlated with less severe sleep disturbances. CONCLUSION: The unitary bowel-sleep model based on IRT revealed a strong positive correlation between the severity of IBS symptoms and sleep disturbances.