A unique case of late-onset CIPO caused by a missense mutation in the long isoform of .

Mutations in the filamin A (FLNA) gene cause a broad range of disorders, affecting musculoskeletal, nervous, vascular, and gastrointestinal systems, collectively known as filaminopathies. In contrast to previously described mutations in the long isoform of , which alter the reading frame and lead to loss of Filamin A expression resulting in congenital short bowel syndrome or chronic intestinal pseudo-obstruction in pediatric patients, here we present the clinical and genetic features of an adult patient with chronic intestinal pseudo-obstruction in whom whole exome sequencing revealed a novel missense mutation (p.Gly19Val) in gene.

A Phase II, Multicentric, Randomized, Double-Blind, Placebo-Controlled, Proof of Concept Study of Efficacy and Safety of Rifamycin SV-MMX 600 mg Tablets Administered Three or Two Times Daily to Patients With Diarrhea-Predominant Irritable Bowel Syndrome.

Introduction: Treatment with nonresorbable antibiotics is effective in diarrhea-predominant irritable bowel syndrome (IBS-D). Multimatrix (MMX) formulations ensure targeted drug delivery to the mid-distal small bowel and colon-traditionally considered the origin of IBS symptoms. To assess the efficacy of rifamycin SV-MMX for the treatment of IBS-D.

Duodenojejunal inflammation causing chronic vomiting in adult-onset Still's disease.

Adult-onset Still's disease (AOSD) is a rare systemic autoinflammatory disease with a broad spectrum of clinical manifestations including fever, skin rash, arthralgia and neutrophilic leucocytosis. Small bowel inflammation in AOSD has been reported in association with Crohn's disease, coeliac disease and chronic intestinal pseudo-obstruction. We have here reported the first-time case of AOSD with small bowel involvement, presenting with chronic vomiting.

Intestinal pseudo-obstruction caused by infection.

A woman in her 40s presented with malaise, nausea, reduced appetite, abdominal distention, loose stools and weight loss. Symptoms had started 6 months earlier and worsened in the last 2 weeks. CT enterography showed hypotonic dilated small bowel loops in absence of any mechanical obstruction.

Coordinated Multi-Language Translation of A Validated Symptom Questionnaire for Carbohydrate Intolerances: A Practical Structured Procedure.

Background And Aims: Validated questionnaires help to minimize diagnostic bias, to standardize symptom assessment and to achieve comparability between studies and centers. In a recent European guideline the adult and the pediatric carbohydrate perception questionnaires (aCPQ and pCPQ), were recommended to be used for the diagnosis of carbohydrate intolerances in adult and pediatric patients. The implementation of this guideline into clinical practice makes availability of validated translations a necessity.

Review of the indications, methods, and clinical utility of anorectal manometry and the rectal balloon expulsion test.

Background: Anorectal manometry (ARM) comprehensively assesses anorectal sensorimotor functions.

Purpose: This review examines the indications, techniques, interpretation, strengths, and weaknesses of high-resolution ARM (HR-ARM), 3-dimensional high-resolution anorectal manometry (3D-HR-ARM), and portable ARM, and other assessments (i.e.

European guideline on indications, performance, and clinical impact of hydrogen and methane breath tests in adult and pediatric patients: European Association for Gastroenterology, Endoscopy and Nutrition, European Society of Neurogastroenterology and Motility, and European Society for Paediatric Gastroenterology Hepatology and Nutrition consensus.

Introduction: Measurement of breath hydrogen (H ) and methane (CH ) excretion after ingestion of test-carbohydrates is used for different diagnostic purposes. There is a lack of standardization among centers performing these tests and this, together with recent technical developments and evidence from clinical studies, highlight the need for a European guideline.

Methods: This consensus-based clinical practice guideline defines the clinical indications, performance, and interpretation of H -CH -breath tests in adult and pediatric patients.

Functional gastrointestinal and somatoform symptoms five months after SARS-CoV-2 infection: A controlled cohort study.

Background: Gastrointestinal infections represent a risk factor for functional gastrointestinal and somatoform extraintestinal disorders. We investigated the prevalence and relative risk (RR) of gastrointestinal and somatoform symptoms 5 months after SARS-CoV-2 infection compared with a control cohort.

Methods: One hundred and sixty-four SARS-CoV-2 infected patients and 183 controls responded to an online questionnaire about symptoms and signs during the acute phase of the infection and after 4.

Seated anorectal manometry during simulated evacuation: A physiologic exercise or a new clinically useful diagnostic test?

Symptoms such as a feeling of incomplete evacuation, straining, absence of the call to stool, anal blockage, or digitation suggest the presence a functional defecation disorder. As symptoms do not distinguish between patients with and without functional defecation disorder, Rome IV criteria recommend that this disorder is diagnosed when two of three tests are positive: balloon expulsion test (BET), anorectal manometry (ARM), and defecography. However, previous studies have demonstrated that the agreement among these tests is limited.

Patient dissatisfaction with medical therapy for chronic constipation or irritable bowel syndrome with constipation: analysis of N-of-1 prospective trials in 81 patients.

Background: Patients with chronic constipation (CC) or with irritable bowel syndrome with constipation are often dissatisfied about their medical therapy, but their condition remains poorly defined.

Aim: To evaluate the patients' satisfaction rates and which factors predict favourable outcomes through the aggregate analysis of N-of-1 trials.

Methods: Eighty-one outpatients with CC or with irritable bowel syndrome with constipation underwent N-of-1 trials with at least a one-month cycle of effective treatment.

Oesophageal motor function in chronic intestinal idiopathic pseudo-obstruction: A study with high-resolution manometry.

Background: Chronic intestinal idiopathic pseudo-obstruction (idiopathic CIPO) is a rare heterogeneous condition for which the different phenotypes are difficult to be established. Oesophageal motility has shown to be impaired in patients with idiopathic CIPO at traditional manometry, whereas no studies have assessed it by high resolution manometry (HRM).

Aims: To evaluate oesophageal motility by HRM in patients with idiopathic CIPO.

Ultrasound Elasticity Imaging Predicts Therapeutic Outcomes of Patients With Crohn's Disease Treated With Anti-Tumour Necrosis Factor Antibodies.

Background And Aims: Ultrasound elasticity imaging is a non-invasive technique developed to evaluate fibrosis. Measuring tissue strain by ultrasound elasticity imaging can reliably detect severe ileal fibrosis in patients with Crohn's disease [CD]. We have hypothesised that a more severe range of fibrosis might influence the therapeutic response to anti-tumour necrosis factor [TNF] treatment.

Evidence for the Presence of Non-Celiac Gluten Sensitivity in Patients with Functional Gastrointestinal Symptoms: Results from a Multicenter Randomized Double-Blind Placebo-Controlled Gluten Challenge.

Non-celiac gluten sensitivity (NCGS) is characterized by the onset of symptoms after eating gluten-containing food. We aimed to single out NCGS subjects among subjects with functional gastrointestinal symptoms. Patients were enrolled in a multicenter double-blind placebo-controlled trial with crossover.

The Role of Ultrasound Elasticity Imaging in Predicting Ileal Fibrosis in Crohn's Disease Patients.

Backgound: Bowel wall fibrosis is associated with a complicated disease behavior in patients with Crohn's disease (CD). The quantitative assessment of fibrosis severity in CD-affected bowel can help clinical decision making. Our aim was to evaluate the feasibility, reliability, and reproducibility of ultrasound elasticity imaging (UEI) toward the assessment of ileal fibrosis in CD patients.

Randomised controlled trial of mesalazine in IBS.

Objective: Low-grade intestinal inflammation plays a role in the pathophysiology of IBS. In this trial, we aimed at evaluating the efficacy and safety of mesalazine in patients with IBS.

Design: We conducted a phase 3, multicentre, tertiary setting, randomised, double-blind, placebo-controlled trial in patients with Rome III confirmed IBS.

Confirmatory factor analysis of the Patient Assessment of Constipation-Symptoms (PAC-SYM) among patients with chronic constipation.

Background And Aim: PAC-SYM is widely adopted to asses constipation severity. However, it has been validated in a small sample, few items have been included based on expert opinion and not on empirical grounds, and its factor structure has never been replicated. We aimed at evaluating the psychometric properties of PAC-SYM in patients with chronic constipation.

Constipation severity is associated with productivity losses and healthcare utilization in patients with chronic constipation.

Objective: We sought to evaluate the association between constipation severity, productivity losses and healthcare utilization in a national sample of Italian patients with chronic non-organic constipation (CC).

Methods: We enrolled 878 outpatients with CC. Clinical and demographic data were collected by physicians during clinical examinations.