Serena Arrigo - Academia.edu (original) (raw)
Papers by Serena Arrigo
Journal of Crohn's and Colitis
Background This study aimed to define clusters of disease activity and prognostic factors of the ... more Background This study aimed to define clusters of disease activity and prognostic factors of the disease course in a well-characterized cohort of children with Crohn’s disease (CD). Methods All patients with CD identified from the SIGENP IBD registry with a follow-up of at least 5 years and a 6-monthly evaluation were included. Active disease was defined for each yearly semester as follows: clinical activity (wPCDAI≥12,5 or MINI index ≥8), need for treatment escalation, hospitalization, or surgery, active disease on endoscopy (SES-CD >3) or imaging. Formula-based clusters were generated based on previously published patterns in adults 1. Prediction models were created based on clinical, surgical, endoscopic, and laboratory findings at diagnosis and at 6-month follow-up. Results Data from 332 patients were analyzed. Ninety-six (29%) had a quiescent course; 52 (16%) and 34 (10%) had a moderate-to-severe chronically active and chronic intermittent disease; 107 (32%) and 43 (13%) had...
Journal of Paediatrics and Child Health
Updates in Surgery, 2022
Pediatric cholelithiasis is being increasingly diagnosed owing to the widespread use of ultrasono... more Pediatric cholelithiasis is being increasingly diagnosed owing to the widespread use of ultrasonography, raised pediatric obesity and use of long-time parenteral nutrition. Clinical presentation is variable and complicated onset could lead to severe consequences. The aim of this study is to present a 15-years-experience of a pediatric third-level-center in treating cholelithiasis. A retrospective study collecting children with gallstone operated on between 2006 and 2020 is presented. Demographic data, clinical presentation, sonographic findings, risk factors, surgery, complications, follow-up were evaluated. 199 patients were included. Twenty-nine patients (14.5%) with cholelithiasis had a complicated onset. Patients with cholelithiasis older than 10 years had a higher rate of symptomatic/complicated onset. Hemolytic disease was the most frequent co-morbidity (16.1%). Laparoscopic cholecystectomy was performed in 192 cases (96.5%) with a conversion rate of 1.6%. Nearly 1% showed a major post-operative complication after cholecystectomy. Cholelithiasis in patients older than 10 years can be safely treated with laparoscopic cholecystectomy, especially if one or more co-morbidities are present. Laparoscopic splenectomy can be easily associated in the same procedure depending on medical indication. Definition of pediatric surgical timing guidelines would be of quite interest in the field.
Diseases of the Esophagus, 2019
Aim of the Study The aim of this study was to provide an overview of endoscopic treatment in chil... more Aim of the Study The aim of this study was to provide an overview of endoscopic treatment in children after reconstruction of esophageal atresia. Methods This study, conducted at a single tertiary center, reviewed patients requiring endoscopic treatment during a 15-year period, from 2004 to 2018. Collected data include number, frequency, complications, and effectiveness of esophageal anastomotic dilations. Results A total of 55 children with esophageal atresia (EA) underwent upper gastrointestinal endoscopy. Of those, 37 required therapeutic endoscopy with dilation procedures for anastomotic strictures. Thirty-five patients underwent dilations using only through-the-scope (TTS) balloon (BD),1 patient using only a Savary bougie (SB), and 1 using both. A total of 126 dilations were performed using BD in 36 patients and 6 dilations using SB in 2 patients. Specifically, in children treated only with BD were performed 1 dilation in 6 children (17.1%), 2 in 6 children (17.1%), 3 in 7 chil...
Seminars in Pediatric Surgery
Teamwork is one of the most important trend in modern medicine. Airway team were created in many ... more Teamwork is one of the most important trend in modern medicine. Airway team were created in many places to respond in a multidisciplinary and coordinated way to challenging clinical problems which were beyond the possibility of an individual management. In this chapter, we illustrate the historical steps leading to the development of an airway team in a pediatric referral hospital, describe the present teamwork activity defining the key points for the creation of a team and discussing different organization models; finally we delineate possible future directions for the airway teams in the globalized world.
Digestive and Liver Disease, 2022
INTRODUCTION The present study aimed at evaluating Italian epidemiological trends of pediatric in... more INTRODUCTION The present study aimed at evaluating Italian epidemiological trends of pediatric inflammatory bowel diseases (IBD) over the period 2009-2018. MATERIALS AND METHODS Data from 1969 patients enrolled in the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition Registry, by 49 pediatric IBD centers throughout the country, were analyzed, comparing three different time intervals (2009-2012, 2013-2015, 2016-2018). RESULTS The number of new IBD diagnoses ranged from 175 to 219 per year, evenly distributed over the examined period of time. From 2009 to 2018, the minimal incidence ranged from 1.59 to 2.04 /105 inhabitants aged < 18 years, with an overall slight predominance of ulcerative colitis (UC) over Crohn's disease (CD) (ratio: 1.1). Mean diagnostic delay was 6.8 months for CD and 4.1 months for UC, with a significant reduction for CD when comparing the three-time intervals (p =0.008). The most frequent disease locations according to the Paris classification were ileocolonic for CD (41.3%) and pancolitis for UC (54.6%). CONCLUSIONS The minimal incidence rate in Italy seems to have stabilized over the last two decades, even if it has increased when compared to previous reports. UC is still slightly more prevalent than CD in our country. Diagnostic delay significantly decreased for CD, reflecting an improved diagnostic capacity.
Rivista stampata su carta TCF (Total Chlorine Free) e verniciata idro. L'editore resta a disposiz... more Rivista stampata su carta TCF (Total Chlorine Free) e verniciata idro. L'editore resta a disposizione degli aventi diritto con i quali non è stato possibile comunicare e per le eventuali omissioni. Le fotocopie per uso personale del lettore possono essere effettuate nei limiti del 15% di ciascun fascicolo di periodico dietro pagamento alla SIAE del compenso previsto dall'art. 68, commi 4 e 5, della legge 22 aprile 1941 n. 633. Le riproduzioni effettuate per finalità di carattere professionale, economico o commerciale o comunque per uso diverso da quello personale possono essere effettuate a seguito di specifica autorizzazione rilasciata da AIDRO,
Endoscopy in Pediatric Inflammatory Bowel Disease, 2018
Very early onset IBD (VEOIBD) is an emerging form of pediatric IBD with distinct features in the ... more Very early onset IBD (VEOIBD) is an emerging form of pediatric IBD with distinct features in the pathogenesis and in the phenotype. The clinical pattern is often associated with isolated unclassified pancolitis, increased severity, aggressive progression, more resistant to many of standard therapy. Genetic susceptibility plays a important role in VEOIBD and above all infantile IBD can be the first isolated presentation of a primary immunodeficiency. Genetic screening is mandatory to recognize underlying genetic defect that require targeted treatment as allogeneic hematopoietic stem cell transplantation.
Minerva pediatrica, 2018
BACKGROUND Intrasphincteric Botulinum toxin (BoTox) injection for symptomatic postoperative anal ... more BACKGROUND Intrasphincteric Botulinum toxin (BoTox) injection for symptomatic postoperative anal achalasia in Hirschsprung's disease (HSCR) has found wide application in the last twenty years. The aim of this study is to describe effectiveness and functional outcome of a series of patients treated over a 10-year period. METHODS All consecutive HSCR patients who received intrasphincteric BoTox injections between January 2007 and December 2016 were included. Demographic data and clinical features were collected. A detailed questionnaire focusing on outcome in the medium and long term was administered to all families. RESULTS In the study period 64 intrasphincteric BoTox injections were performed in 31 patients. Completed questionnaires were returned by 27 out of 28 eligible patients (96%) reporting improvement or symptoms resolution in 16 (59%). The highest success rates were experienced by patients younger than 4, with long HSCR forms and with recurrent enterocolitis (75%, 100% a...
Clinical Immunology, 2021
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare immune dysregulation syndro... more RAS-associated autoimmune leukoproliferative disease (RALD) is a rare immune dysregulation syndrome caused by somatic gain-of-function mutations of either NRAS or KRAS gene in hematopoietic cells. We describe a 27-year-old patient presenting at 5 months of age with recurrent infections and generalized lymphadenopathy who developed a complex multi-organ autoimmune syndrome with hypogammaglobulinemia, partially controlled with oral steroids, hydroxichloroquine, mofetil mycophenolate and IVIG prophylaxis. Activation of type I interferon pathway was observed in peripheral blood. Since 18 years of age, the patient developed regenerative nodular hyperplasia of the liver evolving into hepatopulmonary syndrome. Whole exome sequencing analysis of the peripheral blood DNA showed the NRAS p.Gly13Asp mutation validated as somatic. Our report highlights the possibility of detecting somatic NRAS gene mutations in patients with inflammatory immune dysregulation and type I interferon activation.
Inflammatory Bowel Diseases, 2021
Background Adult patients with both inflammatory bowel disease (IBD) and celiac disease (CeD) hav... more Background Adult patients with both inflammatory bowel disease (IBD) and celiac disease (CeD) have peculiar phenotypic features. This study aimed at describing the characteristics and natural history of children with both IBD and CeD. Methods This was a case-control study based on a national registry. Cases included children diagnosed with both IBD and CeD. Two matched IBD controls without CeD, and 2 matched CeD controls were selected for each case. Inflammatory bowel disease phenotype and natural history, comprising growth and pubertal development, were compared between groups. Results Forty-nine (1.75%) patients with IBD and CeD were identified out of 2800 patients with IBD. Compared with patients with IBD alone, patients with IBD and CeD presented more frequently with autoimmune diseases (odds ratio, 2.81; 95% CI, 0.97–8.37; P = 0.04). Ileocolonic localization (46.1% vs 73.1%), treatment with azathioprine (46.2% vs 71.2%), and anti-TNF biologics (46.2% vs 69.2%) were less common ...
Journal of Crohn's & colitis, Jan 19, 2015
Recent epidemiological studies showed an increase of ulcerative colitis among children, especiall... more Recent epidemiological studies showed an increase of ulcerative colitis among children, especially in its aggressive form, requiring a surgical treatment. Although there was a standardization of medical therapeutic strategies, there is still no consensus regarding indication, timing and kind of surgery. This study aims to define the surgical management of pediatric ulcerative colitis and describe the attitude among pediatric surgeons. This is a retrospective cohort study. All national gastroenterology units were invited to participate. From January 2009 to December 2013 data of pediatric patient diagnosed for ulcerative colitis that required surgery were collected. Seven units participated to the study. Seventy-one colectomies were performed (77.3% laparoscopically). Main surgical indications were severe ulcerative colitis attack (33.8%) and cases not responding to medical therapies (56.3%). A 3-staged strategy was chosen in 71% of cases. Straight anastomosis was performed in 14% of...
Journal of Pediatric Gastroenterology & Nutrition, 2015
Objectives: We aimed to compare the efficacy of remission maintenance between infliximab ''top-do... more Objectives: We aimed to compare the efficacy of remission maintenance between infliximab ''top-down'' and ''step-up'' strategies in moderate to severe pediatric Crohn disease during 3 years. We also aimed to determine prognostic factors that may influence the relapse-free rate in these patients. Methods: The present study was a retrospective review of a prospective cohort, based on an infliximab treatment protocol for pediatric Crohn disease used at Samsung Medical Center. A total of 31 patients (group A) were treated with early infliximab induction (''top-down'' strategy) and 20 patients (group B) refractory to conventional therapy underwent infliximab treatment (''stepup'' strategy). The efficacy of infliximab treatment was assessed by relapsefree rate and remission period rate for 3 years. A total of 11 prognostic factors that may influence the relapse-free rate were further analyzed. Results: The relapse-free rates at 3 years were 35.5% (95% confidence interval [CI] 0.194-0.519) in group A and 15.0% (95% CI 0.037-0.335) in group B (P ¼ 0.0094). Overall remission period rate for 3 years also showed a significant difference between the 2 groups (92.1% AE 7.2% vs 78.3% AE 16.6%; P ¼ 0.005). Multivariable analysis revealed that the duration from the initial diagnosis to infliximab infusion was the only factor associated with relapse-free remission for 3 years (hazard ratio ¼ 1.077; 95% CI 1.025-1.131). Conclusions: ''Top-down'' strategy had a longer remission period compared with the ''step-up'' strategy in pediatric Crohn disease during a study period of 3 years, based on relapse-free rate and remission period rate. Earlier introduction of infliximab is recommended in pediatric patients with moderate to severe Crohn disease.
Journal of Pediatric Gastroenterology & Nutrition, 2012
p JP Infected total tubular esophageal duplication was detected in an 11-year-old boy presenting ... more p JP Infected total tubular esophageal duplication was detected in an 11-year-old boy presenting with chest pain, dysphagia, cough, and fever. Esophagram (supplemental Fig. 1 [esophagram: water-soluble contrast medium showed a double esophageal lumen extending approximately 5 cm; arrowheads: double lumen, nonlinear arrow: septum, stars: communication between the 2 lumens, arrow: main lumen], http://links.lww.com/MPG/A161) and computed tomography (supplemental Fig. 2 [chest computed tomogram; minimum intensity projection on the sagittal plane confirmed a double esophageal lumen], http://links.lww.com/MPG/A162) revealed an esophageal pseudolumen. Endoscopy showed 2 esophageal lumens (Fig. 1). The main lumen was larger with normal mucosa, whereas the accessory lumen was narrower and lined with ulcerated tissue. The gastroscope was passed into the accessory lumen up to its distal communication with the main lumen. Surgery has been the unique treatment so far (1–3), except for a recently reported experience in operative endoscopy (4). An endoscopic treatment was therefore attempted. Using a standard videogastroscope, a guidewire was firstly placed in the accessory lumen, then a diathermic knife (ITDK, Lorenzatto, Turin, Italy), having an insulated ball in its tip to avoid potential injury beyond the cut zone (5), was inserted and connected to an intelligent electrosurgical workstation (ICC 200 E; ERBE, Marietta, GA). Starting from the upper end of the duplication and using the guidewire as reference for a straight incision, a lengthwise step-by-step mixed cutting and cautery of the intraluminal bridge were then performed (Fig. 2), with the ENDO-CUT mode set at 50/25 W, respectively. No complications were recorded. The child was discharged inferiorly the accessory lumen (3).
Inflammatory Bowel Diseases, 2011
Early Human Development, 2011
Invasive mould infections represent important complications of different pediatric conditions. Ep... more Invasive mould infections represent important complications of different pediatric conditions. Epidemiology and clinical features vary according to the type of underlying conditions that determine the risk of invasive mycosis. No pediatric study has specifically evaluated the efficacy of prophylaxis or therapy invasive moulds infections, while pediatric dosages for the treatment of invasive aspergillosis are available for drugs that produced positive results in clinical trials undertaken in adults.
Digestive and Liver Disease, 2012
Digestive and Liver Disease, 2011
The Journal of Pediatrics, 2010
To correlate multiple intraluminal esophageal impedance recording with pH-monitoring with symptom... more To correlate multiple intraluminal esophageal impedance recording with pH-monitoring with symptoms. Symptoms occurring within a 2-minute window of a reflux were considered to be associated with reflux. Analyses were performed in 1- to 6-, 6- to 12-, and &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;12-months-old patients for crying, pain, cough, and vomiting. A total of 70 of 225 tracings were discarded. Of 2172 symptoms, 1136 (52%) were reflux-associated (45% acid reflux [AR], 51% weakly AR, 3% alkaline reflux). The strongest reflux-symptom association was found for vomiting. Cough-reflux association was higher in infants than in older children. In older patients, symptom-reflux association was more with AR. Symptoms were associated with proximal reflux in 70% of patients. The symptom index and symptom association probability (SAP) were positive (&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;50% for symptom index and &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;95% for SAP) for all refluxes in 83% and 46% of patients and for AR in 49% and 47% of patients, respectively. In 1- to 6-month-old infants, symptom index and SAP were higher for weakly AR than for AR. For crying, SAP was independent of AR or weakly AR. For cough, SAP was positive in one-third of patients, predominantly with AR in 6- to 12-month-old infants and with weakly AR in the other infants. Multiple intraluminal esophageal impedance recording with pH-monitoring doubles the probability of documenting an association between symptoms and reflux compared with pH monitoring. In young infants, symptoms are more frequently associated with weakly AR than with AR.
Journal of Crohn's and Colitis
Background This study aimed to define clusters of disease activity and prognostic factors of the ... more Background This study aimed to define clusters of disease activity and prognostic factors of the disease course in a well-characterized cohort of children with Crohn’s disease (CD). Methods All patients with CD identified from the SIGENP IBD registry with a follow-up of at least 5 years and a 6-monthly evaluation were included. Active disease was defined for each yearly semester as follows: clinical activity (wPCDAI≥12,5 or MINI index ≥8), need for treatment escalation, hospitalization, or surgery, active disease on endoscopy (SES-CD >3) or imaging. Formula-based clusters were generated based on previously published patterns in adults 1. Prediction models were created based on clinical, surgical, endoscopic, and laboratory findings at diagnosis and at 6-month follow-up. Results Data from 332 patients were analyzed. Ninety-six (29%) had a quiescent course; 52 (16%) and 34 (10%) had a moderate-to-severe chronically active and chronic intermittent disease; 107 (32%) and 43 (13%) had...
Journal of Paediatrics and Child Health
Updates in Surgery, 2022
Pediatric cholelithiasis is being increasingly diagnosed owing to the widespread use of ultrasono... more Pediatric cholelithiasis is being increasingly diagnosed owing to the widespread use of ultrasonography, raised pediatric obesity and use of long-time parenteral nutrition. Clinical presentation is variable and complicated onset could lead to severe consequences. The aim of this study is to present a 15-years-experience of a pediatric third-level-center in treating cholelithiasis. A retrospective study collecting children with gallstone operated on between 2006 and 2020 is presented. Demographic data, clinical presentation, sonographic findings, risk factors, surgery, complications, follow-up were evaluated. 199 patients were included. Twenty-nine patients (14.5%) with cholelithiasis had a complicated onset. Patients with cholelithiasis older than 10 years had a higher rate of symptomatic/complicated onset. Hemolytic disease was the most frequent co-morbidity (16.1%). Laparoscopic cholecystectomy was performed in 192 cases (96.5%) with a conversion rate of 1.6%. Nearly 1% showed a major post-operative complication after cholecystectomy. Cholelithiasis in patients older than 10 years can be safely treated with laparoscopic cholecystectomy, especially if one or more co-morbidities are present. Laparoscopic splenectomy can be easily associated in the same procedure depending on medical indication. Definition of pediatric surgical timing guidelines would be of quite interest in the field.
Diseases of the Esophagus, 2019
Aim of the Study The aim of this study was to provide an overview of endoscopic treatment in chil... more Aim of the Study The aim of this study was to provide an overview of endoscopic treatment in children after reconstruction of esophageal atresia. Methods This study, conducted at a single tertiary center, reviewed patients requiring endoscopic treatment during a 15-year period, from 2004 to 2018. Collected data include number, frequency, complications, and effectiveness of esophageal anastomotic dilations. Results A total of 55 children with esophageal atresia (EA) underwent upper gastrointestinal endoscopy. Of those, 37 required therapeutic endoscopy with dilation procedures for anastomotic strictures. Thirty-five patients underwent dilations using only through-the-scope (TTS) balloon (BD),1 patient using only a Savary bougie (SB), and 1 using both. A total of 126 dilations were performed using BD in 36 patients and 6 dilations using SB in 2 patients. Specifically, in children treated only with BD were performed 1 dilation in 6 children (17.1%), 2 in 6 children (17.1%), 3 in 7 chil...
Seminars in Pediatric Surgery
Teamwork is one of the most important trend in modern medicine. Airway team were created in many ... more Teamwork is one of the most important trend in modern medicine. Airway team were created in many places to respond in a multidisciplinary and coordinated way to challenging clinical problems which were beyond the possibility of an individual management. In this chapter, we illustrate the historical steps leading to the development of an airway team in a pediatric referral hospital, describe the present teamwork activity defining the key points for the creation of a team and discussing different organization models; finally we delineate possible future directions for the airway teams in the globalized world.
Digestive and Liver Disease, 2022
INTRODUCTION The present study aimed at evaluating Italian epidemiological trends of pediatric in... more INTRODUCTION The present study aimed at evaluating Italian epidemiological trends of pediatric inflammatory bowel diseases (IBD) over the period 2009-2018. MATERIALS AND METHODS Data from 1969 patients enrolled in the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition Registry, by 49 pediatric IBD centers throughout the country, were analyzed, comparing three different time intervals (2009-2012, 2013-2015, 2016-2018). RESULTS The number of new IBD diagnoses ranged from 175 to 219 per year, evenly distributed over the examined period of time. From 2009 to 2018, the minimal incidence ranged from 1.59 to 2.04 /105 inhabitants aged < 18 years, with an overall slight predominance of ulcerative colitis (UC) over Crohn's disease (CD) (ratio: 1.1). Mean diagnostic delay was 6.8 months for CD and 4.1 months for UC, with a significant reduction for CD when comparing the three-time intervals (p =0.008). The most frequent disease locations according to the Paris classification were ileocolonic for CD (41.3%) and pancolitis for UC (54.6%). CONCLUSIONS The minimal incidence rate in Italy seems to have stabilized over the last two decades, even if it has increased when compared to previous reports. UC is still slightly more prevalent than CD in our country. Diagnostic delay significantly decreased for CD, reflecting an improved diagnostic capacity.
Rivista stampata su carta TCF (Total Chlorine Free) e verniciata idro. L'editore resta a disposiz... more Rivista stampata su carta TCF (Total Chlorine Free) e verniciata idro. L'editore resta a disposizione degli aventi diritto con i quali non è stato possibile comunicare e per le eventuali omissioni. Le fotocopie per uso personale del lettore possono essere effettuate nei limiti del 15% di ciascun fascicolo di periodico dietro pagamento alla SIAE del compenso previsto dall'art. 68, commi 4 e 5, della legge 22 aprile 1941 n. 633. Le riproduzioni effettuate per finalità di carattere professionale, economico o commerciale o comunque per uso diverso da quello personale possono essere effettuate a seguito di specifica autorizzazione rilasciata da AIDRO,
Endoscopy in Pediatric Inflammatory Bowel Disease, 2018
Very early onset IBD (VEOIBD) is an emerging form of pediatric IBD with distinct features in the ... more Very early onset IBD (VEOIBD) is an emerging form of pediatric IBD with distinct features in the pathogenesis and in the phenotype. The clinical pattern is often associated with isolated unclassified pancolitis, increased severity, aggressive progression, more resistant to many of standard therapy. Genetic susceptibility plays a important role in VEOIBD and above all infantile IBD can be the first isolated presentation of a primary immunodeficiency. Genetic screening is mandatory to recognize underlying genetic defect that require targeted treatment as allogeneic hematopoietic stem cell transplantation.
Minerva pediatrica, 2018
BACKGROUND Intrasphincteric Botulinum toxin (BoTox) injection for symptomatic postoperative anal ... more BACKGROUND Intrasphincteric Botulinum toxin (BoTox) injection for symptomatic postoperative anal achalasia in Hirschsprung's disease (HSCR) has found wide application in the last twenty years. The aim of this study is to describe effectiveness and functional outcome of a series of patients treated over a 10-year period. METHODS All consecutive HSCR patients who received intrasphincteric BoTox injections between January 2007 and December 2016 were included. Demographic data and clinical features were collected. A detailed questionnaire focusing on outcome in the medium and long term was administered to all families. RESULTS In the study period 64 intrasphincteric BoTox injections were performed in 31 patients. Completed questionnaires were returned by 27 out of 28 eligible patients (96%) reporting improvement or symptoms resolution in 16 (59%). The highest success rates were experienced by patients younger than 4, with long HSCR forms and with recurrent enterocolitis (75%, 100% a...
Clinical Immunology, 2021
RAS-associated autoimmune leukoproliferative disease (RALD) is a rare immune dysregulation syndro... more RAS-associated autoimmune leukoproliferative disease (RALD) is a rare immune dysregulation syndrome caused by somatic gain-of-function mutations of either NRAS or KRAS gene in hematopoietic cells. We describe a 27-year-old patient presenting at 5 months of age with recurrent infections and generalized lymphadenopathy who developed a complex multi-organ autoimmune syndrome with hypogammaglobulinemia, partially controlled with oral steroids, hydroxichloroquine, mofetil mycophenolate and IVIG prophylaxis. Activation of type I interferon pathway was observed in peripheral blood. Since 18 years of age, the patient developed regenerative nodular hyperplasia of the liver evolving into hepatopulmonary syndrome. Whole exome sequencing analysis of the peripheral blood DNA showed the NRAS p.Gly13Asp mutation validated as somatic. Our report highlights the possibility of detecting somatic NRAS gene mutations in patients with inflammatory immune dysregulation and type I interferon activation.
Inflammatory Bowel Diseases, 2021
Background Adult patients with both inflammatory bowel disease (IBD) and celiac disease (CeD) hav... more Background Adult patients with both inflammatory bowel disease (IBD) and celiac disease (CeD) have peculiar phenotypic features. This study aimed at describing the characteristics and natural history of children with both IBD and CeD. Methods This was a case-control study based on a national registry. Cases included children diagnosed with both IBD and CeD. Two matched IBD controls without CeD, and 2 matched CeD controls were selected for each case. Inflammatory bowel disease phenotype and natural history, comprising growth and pubertal development, were compared between groups. Results Forty-nine (1.75%) patients with IBD and CeD were identified out of 2800 patients with IBD. Compared with patients with IBD alone, patients with IBD and CeD presented more frequently with autoimmune diseases (odds ratio, 2.81; 95% CI, 0.97–8.37; P = 0.04). Ileocolonic localization (46.1% vs 73.1%), treatment with azathioprine (46.2% vs 71.2%), and anti-TNF biologics (46.2% vs 69.2%) were less common ...
Journal of Crohn's & colitis, Jan 19, 2015
Recent epidemiological studies showed an increase of ulcerative colitis among children, especiall... more Recent epidemiological studies showed an increase of ulcerative colitis among children, especially in its aggressive form, requiring a surgical treatment. Although there was a standardization of medical therapeutic strategies, there is still no consensus regarding indication, timing and kind of surgery. This study aims to define the surgical management of pediatric ulcerative colitis and describe the attitude among pediatric surgeons. This is a retrospective cohort study. All national gastroenterology units were invited to participate. From January 2009 to December 2013 data of pediatric patient diagnosed for ulcerative colitis that required surgery were collected. Seven units participated to the study. Seventy-one colectomies were performed (77.3% laparoscopically). Main surgical indications were severe ulcerative colitis attack (33.8%) and cases not responding to medical therapies (56.3%). A 3-staged strategy was chosen in 71% of cases. Straight anastomosis was performed in 14% of...
Journal of Pediatric Gastroenterology & Nutrition, 2015
Objectives: We aimed to compare the efficacy of remission maintenance between infliximab ''top-do... more Objectives: We aimed to compare the efficacy of remission maintenance between infliximab ''top-down'' and ''step-up'' strategies in moderate to severe pediatric Crohn disease during 3 years. We also aimed to determine prognostic factors that may influence the relapse-free rate in these patients. Methods: The present study was a retrospective review of a prospective cohort, based on an infliximab treatment protocol for pediatric Crohn disease used at Samsung Medical Center. A total of 31 patients (group A) were treated with early infliximab induction (''top-down'' strategy) and 20 patients (group B) refractory to conventional therapy underwent infliximab treatment (''stepup'' strategy). The efficacy of infliximab treatment was assessed by relapsefree rate and remission period rate for 3 years. A total of 11 prognostic factors that may influence the relapse-free rate were further analyzed. Results: The relapse-free rates at 3 years were 35.5% (95% confidence interval [CI] 0.194-0.519) in group A and 15.0% (95% CI 0.037-0.335) in group B (P ¼ 0.0094). Overall remission period rate for 3 years also showed a significant difference between the 2 groups (92.1% AE 7.2% vs 78.3% AE 16.6%; P ¼ 0.005). Multivariable analysis revealed that the duration from the initial diagnosis to infliximab infusion was the only factor associated with relapse-free remission for 3 years (hazard ratio ¼ 1.077; 95% CI 1.025-1.131). Conclusions: ''Top-down'' strategy had a longer remission period compared with the ''step-up'' strategy in pediatric Crohn disease during a study period of 3 years, based on relapse-free rate and remission period rate. Earlier introduction of infliximab is recommended in pediatric patients with moderate to severe Crohn disease.
Journal of Pediatric Gastroenterology & Nutrition, 2012
p JP Infected total tubular esophageal duplication was detected in an 11-year-old boy presenting ... more p JP Infected total tubular esophageal duplication was detected in an 11-year-old boy presenting with chest pain, dysphagia, cough, and fever. Esophagram (supplemental Fig. 1 [esophagram: water-soluble contrast medium showed a double esophageal lumen extending approximately 5 cm; arrowheads: double lumen, nonlinear arrow: septum, stars: communication between the 2 lumens, arrow: main lumen], http://links.lww.com/MPG/A161) and computed tomography (supplemental Fig. 2 [chest computed tomogram; minimum intensity projection on the sagittal plane confirmed a double esophageal lumen], http://links.lww.com/MPG/A162) revealed an esophageal pseudolumen. Endoscopy showed 2 esophageal lumens (Fig. 1). The main lumen was larger with normal mucosa, whereas the accessory lumen was narrower and lined with ulcerated tissue. The gastroscope was passed into the accessory lumen up to its distal communication with the main lumen. Surgery has been the unique treatment so far (1–3), except for a recently reported experience in operative endoscopy (4). An endoscopic treatment was therefore attempted. Using a standard videogastroscope, a guidewire was firstly placed in the accessory lumen, then a diathermic knife (ITDK, Lorenzatto, Turin, Italy), having an insulated ball in its tip to avoid potential injury beyond the cut zone (5), was inserted and connected to an intelligent electrosurgical workstation (ICC 200 E; ERBE, Marietta, GA). Starting from the upper end of the duplication and using the guidewire as reference for a straight incision, a lengthwise step-by-step mixed cutting and cautery of the intraluminal bridge were then performed (Fig. 2), with the ENDO-CUT mode set at 50/25 W, respectively. No complications were recorded. The child was discharged inferiorly the accessory lumen (3).
Inflammatory Bowel Diseases, 2011
Early Human Development, 2011
Invasive mould infections represent important complications of different pediatric conditions. Ep... more Invasive mould infections represent important complications of different pediatric conditions. Epidemiology and clinical features vary according to the type of underlying conditions that determine the risk of invasive mycosis. No pediatric study has specifically evaluated the efficacy of prophylaxis or therapy invasive moulds infections, while pediatric dosages for the treatment of invasive aspergillosis are available for drugs that produced positive results in clinical trials undertaken in adults.
Digestive and Liver Disease, 2012
Digestive and Liver Disease, 2011
The Journal of Pediatrics, 2010
To correlate multiple intraluminal esophageal impedance recording with pH-monitoring with symptom... more To correlate multiple intraluminal esophageal impedance recording with pH-monitoring with symptoms. Symptoms occurring within a 2-minute window of a reflux were considered to be associated with reflux. Analyses were performed in 1- to 6-, 6- to 12-, and &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;12-months-old patients for crying, pain, cough, and vomiting. A total of 70 of 225 tracings were discarded. Of 2172 symptoms, 1136 (52%) were reflux-associated (45% acid reflux [AR], 51% weakly AR, 3% alkaline reflux). The strongest reflux-symptom association was found for vomiting. Cough-reflux association was higher in infants than in older children. In older patients, symptom-reflux association was more with AR. Symptoms were associated with proximal reflux in 70% of patients. The symptom index and symptom association probability (SAP) were positive (&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;50% for symptom index and &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;95% for SAP) for all refluxes in 83% and 46% of patients and for AR in 49% and 47% of patients, respectively. In 1- to 6-month-old infants, symptom index and SAP were higher for weakly AR than for AR. For crying, SAP was independent of AR or weakly AR. For cough, SAP was positive in one-third of patients, predominantly with AR in 6- to 12-month-old infants and with weakly AR in the other infants. Multiple intraluminal esophageal impedance recording with pH-monitoring doubles the probability of documenting an association between symptoms and reflux compared with pH monitoring. In young infants, symptoms are more frequently associated with weakly AR than with AR.