The MNX1 gene sequencing didn't detect any mutation. However the Array-CGH analysis identified a 4.15 Mb deletion of 7q36.2q36.3, including MNX1 and ...
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apart from abdominal distension and microcephaly, was detected: growth, sacral and anal regions were normal. Blood tests (thyroid function, anti transglutaminase antibodies, calcium) were normal too. Therapy with polyethylene glycol (PEG) was initially prescribed. After 1 year, because of poor response, a plain abdominal X-ray was performed, detecting sacrum abnormalities. The lumbosacral magnetic resonance imaging showed partial sacral agenesis, anterior meningocele, presacral teratomas, terminal cord lipoma, low-lying conus medullaris and tethered cord. The urologic evaluation (ultrasound and urodynamics) was normal. The MNX1 gene sequencing didn’t detect any mutation. However the Array-CGH analysis identified a 4.15 Mb deletion of 7q36.2q36.3, including MNX1 and SHH genes. The patient underwent to surgical cord untethering with improvement of constipation and encopresis resolution. Conclusion: In case of poor PEG responder constipation, even without evident sacral abnormalities on the physical examination, occult spinal dysraphism should be considered and instrumental tests (i.e. abdominal X-ray) should be performed. Moreover we have described a phenotype of CS and microcephaly caused by a rare microdeletion of 7q36.6q36.3. http://dx.doi.org/10.1016/j.dld.2016.08.022 P22 MAGNESIUM ALGINATE PLUS SIMETHICONE IN CHILDREN WITH POORLY CONTROLLED ASTHMA: PRELIMINARY RESULTS M. Maglione ∗ , E. Giannetti, S. Montella, E. Miele, F. Santamaria, A. Staiano Dip. di Scienze Mediche Traslazionali, Sez. di Pediatria, Università “Federico II”, Napoli, Italy Objectives: Asymptomatic gastroesophageal reflux (GER) frequently affects asthma control. We assessed magnesium alginate plus simethicone (MApS) versus lansoprazole in poorly controlled asthmatic children. Methods: Poor control was defined as: relievers use >twice/week; >2 awakenings with symptoms during the previous month; or >2 emergency department visits, unscheduled physician visits, oral steroids courses, hospitalizations for asthma in the prior year. Exclusion criteria were: (1) asthma therapy modifications during the previous 8 weeks, (2) ongoing anti-GER treatment. At enrollment (T0), patients underwent spirometry and the pediatric Asthma Control Test (pACT, higher score = better control). Patients were randomized to receive 10 ml three times/day of MApS (group 1), lansoprazole 15 (weight < 30 kg) or 30 mg/day (weight > 30 kg) (group 2), or no treatment (group 3) for 8 weeks. Ongoing asthma therapy was not modified. After 8 weeks (T1), patients were re-assessed by spirometry and pACT. Results: Twenty-one patients (median age, 9.6, range 5.6–13.6 years, 14 males) were recruited. Groups were similar regarding passive smoke exposure, allergic sensitization, and need for relievers. At T0 and T1 mean FEV1 was 104.4 and 110.8%predicted (p = 0.19) in group 1, 96.1 and 95.1 (p = 1) in group 2, and 95.6 and 98 (p = 1) in group 3. At T0 ant T1 pACT was 20.4 and 22.1 (p = 0.09) in group 1, 17.2 and 17.5 (p = 0.6) in group 2, and 16.7 and 18.4 (p = 0.2) in group 3. Conclusion: Despite not statistically significant due to the limited sample, our results suggest that MApS may be beneficial in poorly controlled asthmatic children. Larger populations are needed to generalize our findings. http://dx.doi.org/10.1016/j.dld.2016.08.023
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P23 EFFECT OF ALGINATE ON LARYNGEAL INFLAMMATION IN INFANTS F. Macchi 1,∗ , E. Rota 2 , A. Ripepi 1 , C. Luini 1 , C. Armano 1 , P. Latorre 3 , A. Salvatoni 1 , S. Salvatore 1 1 SC Pediatria, Ospedale F. Del Ponte, Università dell’Insubria, Varese, Italy 2 Università dell’Insubria, Varese, Italy 3 UO Otorinolaringoiatria, ASST-Sette Laghi, Varese, Italy
Objectives: Several nonspecific laryngoscopic findings have been previously correlated to laryngopharyngeal reflux (LPR). At present, there is no evidence on the effect of alginate on laryngopharyngeal inflammation. No validated clinical and larygoscopic score in pediatric age define laryngopharyngeal reflux. However many patients with LPR are empirically treated with proton pump inhibitors (PPI) despite the lack of evidence. The aim of our study was to evaluate whether alginate could be effective to reduce laryngeal abnormalities. Methods: This is a single center retrospective analysis of prospectively recruited infants treated with alginate for LPR diagnosed by ENT specialist using flexible laryngoscopy. After 3 months of treatment, the same ENT specialist performed a controlled laryngoscopy. Results: 23 children (21 infants, median age 6 months) were analysed. 22/23 had history of apnea associated with regurgitation, the other reported post-prandial crying and regurgitation. 22/23 showed pathological laryngeal findings: 18/22 arytenoids hyperemia, 10/22 subglottic edema, 6/22 both signs. All patients were treated with alginate syrup (1 ml/kg/die). Second fibroscopy was performed after median time of 3 months and 12/22 had resolution of LPR’s signs whilst 1/22 reported improvement. In 7 infants with persisting signs of LPR, a third fibroscopy was planned after a median time of 4 months: 3 had resolution, 1 improvement, 1 similar previous signs. Two patients were lost during the follow-up. Conclusions: Alginate showed efficacy to resolve or improve LPR’s signs in nearly ¾ of infants and children. The correlation between laryngeal inflammation and GER is still unclear and need further research. http://dx.doi.org/10.1016/j.dld.2016.08.024 P24 ESOPHAGEAL HIGH RESOLUTION MANOMETRY IN SEVERE NEUROLOGICALLY IMPAIRED CHILDREN P. Orizio 1,∗ , D. Della Casa 2 , F. Parolini 1 , F. Torri 1 , G. Missale 2 , D. Alberti 1 1 U.O. chirurgia pediatrica, Spedali Civili, Brescia, Italy 2 U.O. chirurgia endoscopica digestiva – 4◦ chirurgia, Spedali Civili, Brescia, Italy
Background and aim: Esophageal high resolution manometry (HRM) is a well standardized diagnostic tool in adult patients with dysphagia and gastroesophageal reflux diesase (GERD). Its role in pediatric population is limited, but someone suggests a utility in the assessment in patients undergoing antireflux surgery. Scanty data are available in neurologically impaired (NI) children. We want to
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characterize manometrically the esophageal function in NI patients with GERD and dysphagia symptoms. Methods: Severe NI children (gross motor function classification system level 5) affected with dysphagia ± GERD, underwent HRM using solid-state catheter. Basal LES pressure, hiatal hernia, esophagogastric junction relaxation (EGJr), basal upper esophageal sphincter (UES) pressure, UES relaxation, esophageal pressure motor patterns were evaluated. Results: 19 patients (10 males) were selected. Mean age was 5.4 years (range 1–14), mean weight 16.6 kg (8–26). Mean basal LES pressure was 19.2 mmHg (range 4–76), 9 patients had abnormal EGJr, 9 patients had hiatal hernia. UES pressure was 90.6 mmHg (range 21.7–112.5), 7 patients had abnormal UES relaxation. In summary, according to Chicago classification (CC) criteria, 4 patients were classified as affected with achalasia type II, 7 patients as EGJ outflow obstruction, 7 patients as weak peristalsis, 1 patient as absent peristalsis. Moreover 7 patients had UES abnormal relaxation Conclusions: Severe NI patients have high ratio of major esophageal motor dysfunctions. HRM can be a useful tool and should be considered part of the global assessment of the dysphagic and GERD NI patient. http://dx.doi.org/10.1016/j.dld.2016.08.025 P25 HIGH RESOLUTION ANORECTAL MANOMETRY IN CHILDREN WITH FUNCTIONAL CONSTIPATION WITH OR WITHOUT FECAL INCONTINENCE R. Turco ∗ , A. Alessandrella, A. Pozziello, E. Miele, A. Staiano Dip. di Scienze Mediche Translazionali, Sez. di Pediatria, Università “Federico II” di Napoli, Italy Introduction and aim: To characterize anorectal pressures of children with functional constipation (FC) with or without fecal incontinence by HRARM. Methods: Thirteen consecutive FC children, of whom 5 with fecal retentive incontinence (FRI) underwent HRARM. We compared our findings with the results of Banasiuk et al., which performed HRARM in children without lower gastrointestinal symptoms. Results: Maximum and mean rest pressure were 100.28 mmHg (SD ± 33.7) and 70 mmHg (SD ± 18) in FC children and 92.6 mmHg (SD ± 27.6) and 69 mmHg (SD ± 7.9) in FRI children (p = 0.6; p = 0.8, respectively). The mean anal relaxation rate was 23.2% (SD ± 17) in FC children versus 15.6% (SD ± 9) in FRI children (p = 0.3). The maximum squeeze mean pressure was 169 mmHg (SD ± 56) in FC children and 141 mmHg (SD ± 38.49) in FRI children (p = 0.7). The mean RAIR was 37 mL (SD ± 14.9) in FC children and 36 mL (SD ± 8.9) in FRI (p = 0.6). No statistical significant differences were found with regards to anal canal length values between the 2 groups. Comparing HRARM values of our children with Banasiuk et al, we observed that the maximum squeeze pressure and the mean resting pressure of our population study were lower (157 mmHg vs 191 mmHg; 69 mmHg vs 83 mmHg, respectively) while the mean RAIR values resulted higher (37 ml vs 15.7 ml, respectively). Conclusion: HRARM pressure values in children with FC with or without FI are comparable. When comparing with children without lower gastrointestinal symptoms, children with FC with or without FI show lower values of squeeze and resting pressure and higher values of RAIR. http://dx.doi.org/10.1016/j.dld.2016.08.026
P26 PREVALENCE OF FUNCTIONAL GASTROINTESTINAL DISORDERS IN THE EUROPEAN-MEDITERRANEAN AREA: PRELIMINARY DATA E. Scarpato 1,∗ , S. Brusa 2 , E. Altamimi 3 , A. Kostovski 4 , S. Kolacek 5 , V. Konjik 6 , D. Jojkic-Pavkov 7 , R. Shamir 8 , M. Rozenfeld Bar Lev 8 , C. Romano 9 , A. Campanozzi 10 , A. Staiano 1 1 Department of Translational Medical Sciences – Section of Pediatrics, University of Naples “Federico II”, Naples, Italy 2 Pediatric Unit, Azienda Unità Sanitaria Locale di Imola, Imola, Italy 3 Department of Pediatrics, Mu’tah University, Al Karak, Jordan 4 University Children Hospital, Faculty of Medicine, Skopje, Macedonia 5 Referral Centre for Pediatric Gastroenterology and Nutrition – “University Children’s Hospital”, Zagreb, Croatia 6 University Hospital Osijek, Department of Pediatric Gastroenterology, Croatia 7 Department of Pediatrics, Institute for child and youth health care of Vojvodina, Medical Faculty Novi Sad, Serbia 8 Institute of Gastroenterology, Nutrition and Liver Diseases, “Schneider Children’s Medical Center of Israel”, Tel-Aviv University, Israel 9 Department of Pediatrics, University of Messina, Messina, Italy 10 Department of Pediatrics, University of Foggia, Foggia, Italy
Aims and methods: This multicenter study aimed at assessing the prevalence of FGIDs in children and adolescents in a community sample of the European-Mediterranean Area. The prevalence of FGIDs has been assessed using the questionnaires on pediatric GI symptoms based on Rome III Criteria. We used the parent-report form for subjects aged between 4 and 10 years (Group A), and the self-report form for subjects aged between 11 and 18 years (Group B). Children and adolescents have been enrolled in schools. Results: So far, we have enrolled 3419 subjects aged between 4 and 10 years (mean age, 7.4 ± 4.2 years; females 53.9%), and 4143 subjects aged between 11 and 18 years (mean age, 14 ± 4.9 years; females, 54.9%) from 6 countries: Croatia, Jordan, Israel, Italy, Macedonia, and Serbia. Among subjects from Group A, the most common FGIDs were functional constipation (7.6%), irritable bowel syndrome (3.3%), aerophagia (3.0%), and abdominal migraine (2.6%). In children from Group B the most prevalent FGIDs were: functional constipation (14%); abdominal migraine (8.9%); aerophagia (6.3%), irritable bowel syndrome (5.8%), and functional dyspepsia (4.4%). There were no significant prevalence differences among the involved countries. Conclusions: FGIDs are commonly found in children and adolescents from the European-Mediterranean area. Functional constipation and abdominal migraine are the most common disorders. There are no significant differences in FGIDs prevalence among the involved countries. Acknowledgement: The project is funded by a network grant from the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN), and by a grant from the Società
