Osvaldo Borrelli

Osvaldo Borrelli
Great Ormond Street Hospital for Children NHS Foundation Trust | GOSH · Department of Gastroenterology

MD, PhD

About

268
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Additional affiliations
January 2011 - December 2012
Great Ormond Street Hospital
January 2002 - December 2009
Università degli Studi di Roma "La Sapienza"
January 1997 - December 2006

Publications

Publications (268)
Article
Full-text available
The irritable bowel syndrome (IBS) is a functional gastrointestinal disorder (FGID), whose prevalence has widely increased in pediatric population during the past two decades. The exact pathophysiological mechanism underlying IBS is still uncertain, thus resulting in challenging diagnosis and management. Experts from 4 Italian Societies participate...
Article
Full-text available
Objectives Diagnosis of rumination syndrome (RS) relies on Rome IV criteria. Oesophageal high‐resolution impedance manometry (HRIM) can objectively demonstrate the episodes of rumination, but its role in the diagnostic pathway is not yet established. We aimed to demonstrate the clinical contribution of this tool for the timely diagnosis of RS and d...
Article
Introduction: Paediatric gastrointestinal motility disorders represent some of the most challenging clinical conditions with largely undefined pathogenetic pathways and therefore limited therapeutic options. Herein, we provide an overview of the recent advances in treatment options for these disorders and their clinical impact. Areas covered: Pu...
Article
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Introduction To date, no international guidelines have been published for the treatment of paediatric functional abdominal pain disorders (FAPDs), subcategorised into functional abdominal pain–not otherwise specified (FAP-NOS), irritable bowel syndrome (IBS), functional dyspepsia and abdominal migraine (AM). We aim for a treatment guideline, focusi...
Article
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Visceral myopathy is a rare, life-threatening disease linked to identified genetic mutations in 60% of cases. Mostly due to the dearth of knowledge regarding its pathogenesis, effective treatments are lacking. The disease is most commonly diagnosed in children with recurrent or persistent disabling episodes of functional intestinal obstruction, whi...
Conference Paper
Diversion colitis (DC) can develop in the defunctioned colon segment. Prevalence of DC in children is unknown. We aim to identify the prevalence of DC in a paediatric population with lower gastrointestinal (GI) motility disorders and/or paediatric intestinal pseudo-obstruction (PIPO) after ileostomy formation.Data on children seen in our Joint Gast...
Conference Paper
In children an intragastric pressure rise >25 mmHg associated with retrograde bolus flow into the proximal oesophagus has been proposed as diagnostic cut-off for rumination episode, but this can still fail to diagnose rumination events¹. Gastro-sphincteric pressure gradient (GSPG), the difference between intragastric pressure (IGP) and oesophago-ga...
Article
Objective: evidence of small intestinal dysmotility is a key criterion for the diagnosis of paediatric intestinal pseudo-obstruction (PIPO). Small bowel scintigraphy (SBS) allows for objective measurement of small bowel transit (SBT), but limited data is available in children. We aimed to evaluate the utility of SBS in children suspected of GI dys...
Article
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Domperidone is a peripheral dopamine D2 receptor antagonist with prokinetic and antiemetic properties. Its prokinetic effects are mainly manifest in the upper gastrointestinal (GI) tract. Currently its use is restricted to relief of nausea and vomiting in children older than 12 years for a short period of time. However, among (paediatric) gastroent...
Article
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Background/aims: Since available data on pediatric non-erosive esophageal phenotypes (NEEPs) are scant, we investigated their prevalence and the phenotype-dependent treatment response in these children. Methods: Over a 5-year period, children with negative upper endoscopy, who underwent esophageal pH-impedance (off-therapy) for persisting sympto...
Article
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Background Pediatric intestinal pseudo‐obstruction (PIPO) encompasses a variety of rare, heterogeneous, and disabling disorders that severely affect gastrointestinal motility and are associated with high morbidity and mortality. PIPO management is complex and focuses on maintaining an optimal nutritional status, improving gut function, relieving sy...
Article
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Magnet ingestion is a special category of foreign body ingestion associated with high levels of morbidity and mortality worldwide, particularly if it is associated with staggered ingestion of multiple magnets or with simultaneous ingestion of other metallic foreign bodies, especially button batteries. A special category of magnet ingestion is the i...
Article
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The enteric nervous system (ENS), the inherent nervous system of the gastrointestinal (GI) tract is a vast nervous system that controls key GI functions, including motility. It functions at a critical interface between the gut luminal contents, including the diverse population of microorganisms deemed the microbiota, as well as the autonomic and ce...
Chapter
Antroduodenal manometry provides a neuromuscular assessment of gastric antrum and proximal small bowel. Although it is a complex diagnostic tool requiring considerable experience and skills for its performance and analysis, antroduodenal manometry is useful in diagnosing and guiding the management of severe enteric neuromuscular disorders. In this...
Article
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Background: Split-dose thiopurine and allopurinol-thiopurine co-therapy strategies have been suggested as rescue therapeutic options for children with inflammatory bowel disease (IBD) and impaired thiopurine metabolism. We compared efficacy and safety of these regimens in patients who previously failed conventional thiopurine treatment. Methods:...
Article
In several countries, gut-directed hypnotherapy is becoming an established and evidence-based treatment in pediatric gastroenterology. This article describes what hypnotherapy is, offers an overview of its effect in gut-brain disorders and explains its potential mode of action. Moreover, the use of hypnotherapy in other areas of pediatric gastroent...
Article
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Background Cyclic Vomiting Syndrome (CVS) is a rare functional gastrointestinal disorder, which has a considerable burden on quality of life of both children and their family. Aim of the study was to evaluate the diagnostic modalities and therapeutic approach to CVS among Italian tertiary care centers and the differences according to subspecialties...
Article
Objectives Studies in adults have suggested that high-resolution technology increases the diagnostic yield of antroduodenal manometry (ADM). However, there is no study comparing high-resolution with low-resolution ADM recordings as well as comparing the 2 types of high-resolution display [conventional line plot (CLP) and pressure topographic plots...
Article
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Excluding oligo-, di-, monosaccharides and polyols (FODMAPs) from the diet is increasingly being used to treat children with gastrointestinal complaints. The aim of this position paper is to review the available evidence on the safety and efficacy of its use in children and provide expert guidance regarding practical aspects in case its use is cons...
Article
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Background IBS affects a large number of children throughout the world and is thought to be the result of disturbed neuroimmune function along with the brain–gut axis. Although the underlying pathophysiologic mechanisms are not clear, the role of low‐grade inflammation and mucosal immune activation in IBS symptom generation has become evident also...
Article
Full-text available
The enteric nervous system (ENS), the intrinsic innervation of the gastrointestinal (GI) tract, is a vast, mesh-like network of neurons and glia embedded within the bowel wall. Through its complex circuitry and neuronal diversity, the ENS is capable of functioning autonomously but is modulated by inputs from the central nervous system (CNS). The co...
Article
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Background/Objectives Gastric emptying (GE) requires precise antropyloroduodenal coordination for effective transpyloric flow, the mechanisms of which are still unclear. We aimed to correlate gastric antral function assessed by antroduodenal manometry (ADM) with GE scintigraphy (GES) for liquid feeds in children with suspected gastrointestinal dysm...
Article
Objectives: To systematically review the current evidence on Helicobacter pylori-negative chronic gastritis including natural history, available therapies and outcomes. Methods: Articles providing data on the prevalence, treatment or outcomes of Helicobacter pylori-negative gastritis were identified through a systematic search in the MEDLINE and...
Article
Anorectal disorders are common in children. They are related to structural and/or functional abnormalities of the anorectum or pelvic floor with a variety of symptoms. Therefore, diagnostic tests to evaluate anorectal function can help to better understand the underlying pathophysiology and aetiology as well as facilitate patient management. During...
Chapter
Achalasia is a rare esophageal motility disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) during swallowing combined with various degrees of esophageal body motor dysfunction. It results from a progressive degeneration of the myenteric neurons which leads to defective LES relaxation and ultimately aperistalsis of...
Chapter
Chronic intestinal pseudo-obstruction (CIPO) comprises a group of rare, heterogeneous, and disabling disorders of the gastrointestinal (GI) tract characterized by absent or ineffective intestinal peristalsis. The term “pediatric intestinal pseudo-obstruction” (PIPO) has been recently introduced to distinguish pediatric from adult-onset CIPO. PIPO r...
Article
Objectives: Infantile acute upper gastrointestinal bleeding involves a decision for therapeutic intervention that most pediatricians first coming into contact with the patient are, not unreasonably, unable to objectively provide. Therefore, some objective tools of individual risk assessment would seem to be crucial. The principal aim of the presen...
Article
Full-text available
Background Antroduodenal manometry (ADM) and histopathology are currently employed to aid the diagnosis of pediatric intestinal pseudo‐obstruction (PIPO). Limited data are available on the reliability of ADM analysis and its correlation with histopathology. We aimed to develop a protocol for enhanced analysis of ADM contractile patterns, including...
Article
Octreotide, a somatostatin analogue, has been used for more than 20 years in children with gastrointestinal bleeding, chylothorax or chylous ascites, intestinal lymphangiectasia, pancreatitis, intestinal dysmotility, and severe diarrhoea; however, until now, there is a lack of randomised clinical trials evaluating the efficacy of this compound in c...
Article
Hirschsprung disease (HSCR) and Paediatric Intestinal Pseudo-obstruction (PIPO) comprise two of the most recognized and severe disorders of gastrointestinal (GI) motility. HSCR is a developmental disorder of the enteric nervous system invariably affecting the large intestine, whereas the majority of PIPO conditions represent congenital disorders of...
Article
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Introduction Measurement of breath hydrogen (H2) and methane (CH4) 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 Europ...
Article
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Objectives: Given a lack of a systematic approach to the use of breath testing in paediatric patients, the aim of this position paper is to provide expert guidance regarding the indications for its use and practical considerations to optimise its utility and safety. Methods: Nine clinical questions regarding methodology, interpretation, and spec...
Article
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In the last decade, the role of nutritional management in pediatric gastrointestinal diseases has gained increasing popularity. Disease-specific diets have been introduced as conventional treatments by international guidelines. Patients tend to more willingly accept food-based therapies than drugs because of their relatively “harmless” nature. Apar...
Article
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Introduction: 13C‐breath tests are valuable, non-invasive diagnostic tests that can be widely applied for the assessment of gastroenterological symptoms and diseases. Currently, the potential of these tests is compromised by a lack of standardization regarding performance and interpretation among expert centers. Methods: This consensus‐based clini...
Article
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Background Coeliac disease is one of the most prevalent immune-mediated gastrointestinal disorders in children. Aim To review the incidence and prevalence of paediatric coeliac disease, and their trends, regionally across Europe, overall and according to age at diagnosis. Methods Systematic review and meta-analysis from January 1, 1950 to Decembe...
Article
Gastrointestinal symptoms are common findings in children with SARS-CoV-2 infection, including vomiting, diarrhoea, abdominal pain, and difficulty in feeding, although these symptoms tend to be mild. The hepato-biliary system and the pancreas may also be involved, usually with a mild elevation of transaminases and, rarely, pancreatitis. In contrast...
Article
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La pH-impedenzometria esofagea rappresenta attualmente la tecnica diagnostica più accurata per la rilevazione del reflusso gastro-esofageo. Negli ultimi dieci anni, grazie anche alla pubblicazione di numerosi studi clinici, il suo utilizzo in tutto il mondo è gradualmente aumentato, in particolare nei neonati e nei bambini. Tuttavia, ancora oggi al...
Article
Background: The main aim of the study was to assess the association between joint hypermobility (JH) and gastrointestinal (GI) disorders in children. Methods: All children aged 4-17 years attending the clinics of the participating Pediatric Gastroenterology Centres for functional GI disorders (FGIDs) and inflammatory bowel disease (IBD) were scr...
Conference Paper
Full-text available
Introduction/Background In the last decade, Neurogastroenterology & Motility (N&M) has become a major clinical speciality in both paediatric and adult gastroenterology, encompassing gastrointestinal (GI) conditions from classic motility disorders, such as achalasia and intestinal pseudo-obstruction, to functional GI disorders (FGID). The latter rep...
Conference Paper
Introduction and Objective Gastrointestinal food allergy (GIFA) is a common condition in paediatric age and both IgE-mediated and non-IgE-mediated reaction are well recognised underlying mechanisms involved in its pathogenesis. Due to the non-specificity of GI symptoms, GI allergic reactions may significantly overlap with a number of other GI disor...
Article
Background Although intravenous ferric carboxymaltose (FCM) is effective in treating iron deficiency anemia (IDA) in paediatric inflammatory bowel disease (pIBD), no data are available on its post-infusion related risks. Aims We assessed the efficacy of FCM and the rate of post-infusion hypophosphatemia in a large cohort of children with IBD and I...
Article
Full-text available
Coronavirus disease 2019 (COVID-19), caused by acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is predominantly a respiratory disease. However, its significant impact on the gastrointestinal (GI) system is now well-known. SARS-CoV-2 enters cells via the angiotensin-converting enzyme-2 (ACE-2) receptor, which is abundantly expressed on lung c...
Article
Full-text available
Gastrointestinal dysmotility is a common problem in a subgroup of children with intestinal failure (IF), including short bowel syndrome (SBS) and pediatric intestinal pseudo-obstruction (PIPO). It contributes significantly to the increased morbidity and decreased quality of life in this patient population. Impaired gastrointestinal (GI) motility in...
Article
Full-text available
Cyclic Vomiting Syndrome (CVS) is an underdiagnosed episodic syndrome characterized by frequent hospitalizations, multiple comorbidities, and poor quality of life. It is often misdiagnosed due to the unappreciated pattern of recurrence and lack of confirmatory testing. CVS mainly occurs in pre-school or early school-age, but infants and elderly ons...
Article
Background: The importance of ensuring quality in endoscopy is now widely supported, however, there are no formal European consensus guidelines on this topic in children. We aimed to examine current practices within European pediatric endoscopy units as a starting point for future assessments of quality and accreditation programs on behalf of ESPGH...
Article
A causal relationship between gastro-esophageal reflux (GER) and apnea in preterm infants has been frequently hypothesized and is currently debated. The present study aims at reviewing the currently available scientific evidence, in order to clarify the role of GER on the occurrence of apnea and to help improving the clinical management of apneic p...
Article
Full-text available
Background Colonic manometry with intraluminal bisacodyl infusion can be used to assess colonic neuromuscular function in children with treatment‐refractory constipation. If bisacodyl does not induce high‐amplitude propagating contractions (HAPCs), this can be an indication for surgical intervention. A detailed characterization of the colonic respo...
Article
Full-text available
Defecatory disorders in children, including chronic constipation (CC) and fecal incontinence (FI), are common conditions worldwide and have a significant impact on children, their families, and the healthcare system. Anorectal manometry (ARM) and high‐resolution anorectal manometry (HRAM) are relatively novel tools for the assessment of anal sphinc...
Article
Background Paediatric UC can be severe with high colectomy rates. We describe clinical practice, management strategies and determine whether an accelerated approach can influence the natural history of UC. Methods Retrospective study reviewing paediatric UC patient’s records diagnosed January 2009–June 2019. Demographics, diagnosis, auxology, extr...
Chapter
Anorectal manometry (ARM) represents the most commonly performed motility test in pediatric populations. It is a valuable tool to assess anorectal muscle function and coordination, the presence of recto-anal inhibitory reflex, the sphincter tonic contractions and relaxations upon different provocative maneuvers, and the thresholds for rectal and an...
Article
Background: 'Intractable constipation' (IC) is constipation unresponsive to 3 months of optimal conventional treatment. Colonic manometry (CM) is recommended as a diagnostic modality for evaluation of these children. This study aimed to review outcomes of children with IC who were managed surgically at a single tertiary care center. Methods: Rec...
Article
Full-text available
Objective This narrative review aimed to provide practitioners a synthesis of the current knowledge on the role of a low Fermentable Oligosaccharides Disaccharides Monosaccharides and Polyols diet in reducing symptoms associated with functional abdominal pain disorders in children. This review is focused on the pathophysiology, efficacy and critici...
Article
Full-text available
Objective: This narrative review aimed to provide practitioners a synthesis of the current knowledge on the role of a low Fermentable Oligosaccharides Disaccharides Monosaccharides and Polyols diet in reducing symptoms associated with functional abdominal pain disorders in children. This review is focused on the pathophysiology, efficacy and critic...
Article
Multichannel intraluminal impedance pH (MII-pH) monitoring currently represents the gold standard diagnostic technique for the detection of gastro-esophageal reflux (GER), since it allows to quantify and characterize all reflux events and their possible relation with symptoms. Over the last ten years, thanks to its strengths and along with the publ...
Article
Full-text available
Alterations in colonic motility are implicated in the pathophysiology of bowel disorders, but high-resolution manometry of human colonic motor function has revealed that our knowledge of normal motor patterns is limited. Furthermore, various terminologies and definitions have been used to describe colonic motor patterns in children, adults and anim...
Article
Full-text available
Objective: This narrative review aimed to provide practitioners a synthesis of the current knowledge on the role of a low Fermentable Oligosaccharides Disaccharides Monosaccharides and Polyols diet in reducing symptoms associated with functional abdominal pain disorders in children. This review is focused on the pathophysiology, efficacy and criti...
Article
Objectives: To evaluate clinical, endoscopic, and pH-impedance measures in a cohort of children with esophageal atresia and concomitant eosinophilic esophagitis (EoE) and compared it with disease-matched controls, to identify predictive factors for the development of EoE and esophageal stricture. Study design: We reviewed 63 patients with esopha...
Article
Background Iron deficiency anaemia (IDA) is a common complication of pIBD affecting cognitive development and quality of life, and its oral treatment might be is hampered by as poor compliance and efficacy. Intravenous FCM has been shown to be effective and safe for IDA in adult patients, but paediatric studies are limited. Aim: To study the safety...
Article
Background Treat to target strategy has been proposed in adult IBD to improve Quality of Life, symptoms and to treat inflammation. There are little data in the paediatric population for this approach. The aim of this study was to look if set goals (reduced PCDAI/PUCAI and Mayo/SES-CD) were achieved. Methods We conducted a retrospective analysis of...
Article
Background Adalimumab (Ada)/(Humira®), a TNF-α inhibitor, has been approved for the treatment of Crohn’s disease (CD), ulcerative colitis (UC) and inflammatory bowel disease Unclassified (IBDU) in Paediatric Inflammatory bowel disease (pIBD). After loading with Ada, drug levels get maintained with 2 weekly injections. Aims The aim of the study was...
Article
Background Ustekinumab (UST) is a monoclonal antibody against IL 12/23 and is thought to drive inflammation in psoriasis and gastrointestinal inflammation. Two phase 2b studies have shown that UST induces and maintains clinical response in Crohn's disease (CD). Data of the effectiveness of UST in pIBD are lacking. Methods The aim of the study was...
Article
Background Treat to target strategy has been proposed in adult IBD to improve Quality of Life, symptoms and to treat inflammation. There are little data in the paediatric population for this approach. The aim of this study was to look if set goals (reduced PCDAI/PUCAI and Mayo/SES-CD) were achieved. Methods We conducted a retrospective analysis of...
Article
Pediatric gastrointestinal motility disorders represent a range of severe developmental or acquired conditions that disrupt enteric neuromuscular function. Current medical and surgical therapeutic options are very limited but recent advances have highlighted the possibility of improved or curative stem cell-based treatments. Not only has the abilit...
Article
Full-text available
The role and prevalence of cow’s milk protein allergy (CMA) in functional gastrointestinal disorders remains unclear. The aim of this review is to update knowledge on the relationship between CMA and functional abdominal pain disorders (FAPDs) in children. Cochrane Database and Pubmed were searched from inception using general and specific terms fo...
Article
Full-text available
Background The colo‐anal reflex is a distinct reflex whereby the internal anal sphincter (IAS) relaxes in association with colonic high amplitude propagating contractions (HAPCs) in contrast to the recto‐anal inhibitory reflex (RAIR), which is characterized by IAS relaxation upon rectal distension. The RAIR is mediated by the myenteric plexus and t...
Article
Full-text available
The gut-brain axis has recently emerged as a key modulator of human health and the intestinal microbiome has a well-recognised pivotal role in this strong connection. The aim of this narrative review is to update and summarise the effect and clinical applicability of probiotics in paediatric neurogastroenterology. The Cochrane Database and PubMed w...
Article
The bewildering complexity of the enteric nervous system makes it susceptible to develop a wide array of motility disorders, collectively called enteric neuropathies. These gastrointestinal conditions are among the most challenging to manage, mainly given poor characterization of their etiopathophysiology and outcomes. Not surprisingly, therefore,...
Article
Gastrointestinal symptoms including constipation, diarrhoea, pain and bloating represent some of the most common clinical problems for patients. These symptoms can often be managed with cheap, widely available medication or will spontaneously resolve. However, for many patients, chronic GI symptoms persist and frequently come to dominate their live...
Article
Full-text available
Functional abdominal pain disorders are highly prevalent in children. These disorders can be present in isolation or combined with organic diseases, such as celiac disease and inflammatory bowel diseases. Intestinal inflammation (infectious and non-infectious) predisposes children to the development of visceral hypersensitivity that can manifest as...
Article
In this issue of the Journal of Pediatric Gastroenterology and Nutrition, Meinds et al (1) report on the performance of a modified anorectal manometry (ARM) protocol for the diagnosis of Hirschsprung Disease (HSCR). In a prospective study of 105 patients suspected of having HSCR they showed that both the sensitivity and specificity of their modifie...
Article
Full-text available
Resumen Los trastornos funcionales de dolor abdominal tienen una alta prevalencia en los niños. Estos trastornos pueden estar presentes por sí solos o en combinación con enfermedades orgánicas, tales como la enfermedad celíaca y las enfermedades inflamatorias intestinales. La inflamación intestinal (infecciosa y no infecciosa) predispone a los niño...
Article
Objectives: Chronic intestinal pseudo-obstructive (CIPO) conditions are considered the most severe disorders of gut motility. They continue to present significant challenges in clinical care despite considerable recent progress in our understanding of pathophysiology, resulting in unacceptable levels of morbidity and mortality. Major contributors...
Article
Constipation is one of the most common gastrointestinal symptoms in children. With a median reported prevalence of 12%, it accounts for about 25% of all pediatric gastroenterology consultations. The majority of children suffers functional constipation and do not usually require any diagnostic testing. For those children not responding to convention...
Chapter
Scintigraphic techniques in the investigation of the gastrointestinal tract (GIT) have been in clinical use for decades but until recently have been little utilized in clinical practice. Scintigraphy is considered the gold standard for measuring gastric motility, but its clinical application has been limited in view of the lack of standardization o...
Chapter
Antroduodenal manometry (ADM) is a diagnostic tool that provides both a qualitative and quantitative assessment of the foregut motor function by recording intraluminal pressure changes within the gastric antrum and the proximal small intestine. Specifically, such pressure readings provide a measure of coordination and contractile activity of the fo...
Chapter
Gastrointestinal (food) allergy is increasingly prevalent and currently estimated to affect approximately 10 % of all children, with cow’s milk protein the most commonly implicated allergen across the world. The predominant mechanism in GI allergy appears to be delayed-type hypersensitivity with involvement of T cells, mast cells, and eosinophils a...
Article
Full-text available
The endocannabinoid system (ECS) is an endogenous signalling pathway involved in the control of several gastrointestinal (GI) functions at both peripheral and central levels. In recent years, it has become apparent that the ECS is pivotal in the regulation of GI motility, secretion and sensitivity, but endocannabinoids (ECs) are also involved in th...
Article
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Purpose: To report outcomes of children with constipation refractory to medical management and manometrically proven distal colonic dysmotility, managed with rectosigmoidectomy followed by Duhamel operation (Duhamel). Methods: Children who underwent a Duhamel from 2009 onwards for intractable constipation and left colonic dysmotility were retros...
Article
Full-text available
Gastro-esophageal reflux (GER) is common in infants and children and has a varied clinical presentation: from infants with innocent regurgitation to infants and children with severe esophageal and extra-esophageal complications that define pathological gastro-esophageal reflux disease (GERD). Although the pathophysiology is similar to that of adult...
Article
Full-text available
Conclusion: Less than half of children with achalasia are symptom free after initial treatment with either BD or HM. HM, however, when performed as first procedure, provided longer symptom-free period and reduced need for subsequent intervention. What is Known: • Balloon dilatation (BD) and Heller's myotomy (HM) are safe and effective treatment op...
Chapter
Gastro-esophageal reflux disease (GERD) and cow’s milk allergy protein (CMPA) and are both common disorders in childhood, mainly infancy, and several studies have hypothesised a causal relationship between them, suggesting that at least in a subgroup of infants GERD is attributable to CMA. In children with CMPA, a neuroimmune interactions provoked...
Article
Full-text available
Esophageal atresia (OA) represents one of the commonest and most severe developmental disorders of the foregut, the most proximal segment of the gastrointestinal (GI) tract (esophagus and stomach) in embryological terms. Of intrigue is the common origin from this foregut of two very diverse functional entities, the digestive and respiratory systems...
Chapter
The esophagus acts as a conduit for the coordinated transport of food from the mouth to the stomach. Developmentally, it can be identified as a distinct structure from 4 weeks of gestation. At birth, it has a length of approximately 8 cm, which doubles in the first years of extrauterine life. Each of the three germ layers (endoderm, ectoderm, and m...
Article
Full-text available
Background Combined pH-impedance monitoring has been suggested as the investigation of choice for diagnosing gastro-oesophageal reflux in children. Although it is superior to oesophageal pH monitoring in detecting all types of reflux episodes (acid, weakly acidic and alkaline) with the ability to evaluate symptom association with reflux events, it...
Article
Full-text available
Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A. Despite recent advances in clinical and molecular characterization of FD, the pathophysiology of the GIS is still poorly understood. To shed light either on differential...
Chapter
Chronic intestinal pseudo-obstruction (CIPO) comprises a group of rare, heterogeneous, and disabling disorders of the gastrointestinal (GI) tract characterized by absent or ineffective intestinal peristalsis. CIPO in children results from a spectrum of developmental and pathological processes that affect, singly or in combination, the intrinsic or...
Chapter
Achalasia is a rare esophageal motility disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) during swallowing combined with various degrees of esophageal body motor dysfunction. It results from a progressive degeneration of the myenteric neurons which leads to defective LES relaxation and ultimately aperistalsis of...
Article
The current increasing survival of children with severe central nervous system damage has created a major challenge for medical care. Gastrointestinal and nutritional problems in neurologically impaired children have been recently recognized as an integral part of their disease, often leading to growth failure and worsened quality of life for both...
Article
Full-text available
Background: The association between inflammatory bowel disease and joint involvement is well established. There is a paucity of data describing histopathological features of the gut in relation to juvenile idiopathic arthritis (JIA). Methods: We retrospectively identified 33 (21 male) children aged from 3-16 years with JIA (11 oligoarthritis, 5...
Technical Report
Full-text available
I disordini gastrointestinali (DFGI) rappresentano un insieme di sintomi ricorrenti o cronici, variabili per età, non associati ad una patologia organica di base. I sintomi funzionali, nei primi 2 anni di vita, possono essere fisiologici, espressione di un normale sviluppo (es. rigurgito del lattante), o, successivamente, possono derivare da rispos...

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