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19. Cyclic Vomiting Syndrome in Children

Author

Raucci, Umberto, primary, Borrelli, Osvaldo, additional, Di Nardo, Giovanni, additional, Tambucci, Renato, additional, Pavone, Piero, additional, Salvatore, Silvia, additional, Baldassarre, Maria Elisabetta, additional, Cordelli, Duccio Maria, additional, Falsaperla, Raffaele, additional, Felici, Enrico, additional, Ferilli, Michela Ada Noris, additional, Grosso, Salvatore, additional, Mallardo, Saverio, additional, Martinelli, Diego, additional, Quitadamo, Paolo, additional, Pensabene, Licia, additional, Romano, Claudio, additional, Savasta, Salvatore, additional, Spalice, Alberto, additional, Strisciuglio, Caterina, additional, Suppiej, Agnese, additional, Valeriani, Massimiliano, additional, Zenzeri, Letizia, additional, Verrotti, Alberto, additional, Staiano, Annamaria, additional, Villa, Maria Pia, additional, Ruggieri, Martino, additional, Striano, Pasquale, additional, and Parisi, Pasquale, additional

Published
2020
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20. Enteroscopy in children and adults with inflammatory bowel disease

Author

Nardo, Giovanni Di, primary, Esposito, Gianluca, additional, Ziparo, Chiara, additional, Micheli, Federica, additional, Masoni, Luigi, additional, Villa, Maria Pia, additional, Parisi, Pasquale, additional, Manca, Maria Beatrice, additional, Baccini, Flavia, additional, and Corleto, Vito Domenico, additional

Published
2020
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21. Cannabidiol Treatment for Refractory Epilepsies in Pediatrics

Author

Raucci, Umberto, primary, Pietrafusa, Nicola, additional, Paolino, Maria Chiara, additional, Di Nardo, Giovanni, additional, Villa, Maria Pia, additional, Pavone, Piero, additional, Terrin, Gianluca, additional, Specchio, Nicola, additional, Striano, Pasquale, additional, and Parisi, Pasquale, additional

Published
2020
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25. Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma

Author

Parisi Pasquale, Persechino Severino, Paolino Maria Chiara, Nicita Francesco, Torrente Isabella, Bozzao Alessandro, and Villa Maria Pia

Subjects
Brainstem tumor, Diffusion weighted imaging, Intra-familial phenotype variability, MR-spectroscopy, Neurofibromatosis, Pontine hamartoma, Pediatrics, RJ1-570
Abstract

Abstract Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even within the same family. Some people have very mild skin changes, whereas others suffer severe medical complications. The condition usually appears in childhood and is diagnosed if two of the following are present: six or more café-au-lait patches larger than 1.5 cm in diameter, axillary or groin freckling, 2 or more Lisch nodules (small pigmented areas in the iris of the eye), 2 or more neurofibromas, optic pathway gliomas, bone dysplasia, and a first-degree family relative with Neurofibromatosis type 1. The pattern of inheritance is autosomal dominant, however, half of all NF1 cases are ‘sporadic’ and there is no family history. Neurofibromatosis type 1 is an extremely variable condition whose morbidity and mortality is largely dictated by the occurrence of the many complications that may involve any of the body systems. We describe a family affected by NF1 in whom genetic molecular analysis identified the same mutation in the son and father. Routine MRI showed pontine focal lesions in the eight-year-old son, though not in the father. We performed a four years follow-up study and at follow-up pontine hamartoma size remained unchanged in the son, and the father showed still no brain lesions, confirming thus an intra-familial phenotype variability.

Published
2013
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31. Comparison of two exhaled biomarkers in children with and without sleep disordered breathing

Author

Barreto, M, Montuschi, Paolo, Evangelisti, M, Bonafoni, S, Cecili, M, Shohreh, R, Santini, Giuseppe, Villa Maria, Pia, Montuschi P (ORCID:0000-0001-5589-1750), Barreto, M, Montuschi, Paolo, Evangelisti, M, Bonafoni, S, Cecili, M, Shohreh, R, Santini, Giuseppe, Villa Maria, Pia, and Montuschi P (ORCID:0000-0001-5589-1750)

Abstract

Objective: Airway oxidative stress and inflammation are likely to be involved in sleep disordered breathing (SDB) in children. We aimed to measure concentrations of 8-isoprostane (8-IsoP) in the exhaled breath condensate (EBC) and exhaled nitric oxide (FENO) in patients with SBD and healthy children, in order to assess the relationship between these two biomarkers, disease severity, and overnight changes. Methods: Patients with SDB (n = 46) and healthy controls (n = 20) aged 4.5–15.1 years (M/F: 36/30) underwent exhaled measurements. Patients with SDB underwent standard polysomnography to define primary snoring (PS: AHI < 1) and obstructive sleep apnea (OSA). Upon awakening the following morning, FENO was measured and EBC was collected for the measurement of EBC 8-IsoP. Results: OSA patients yielded higher awakening levels of 8-IsoP in EBC than PS patients and control subjects. The 8-IsoP levels, though not FENO, correlated with AHI (r = 0.40, p = 0.003) and SaO2 (r = −0.50, p = 0.001). Cut-off levels of 8-IsoP predicted OSA with a high AUC value (0.84, p = 0.000). Sensitivity and specificity for 8-IsoP levels above the percentile 50 (33.3 pg/mL) were 76.5% and 78.1%, respectively. 8-IsoP levels did not change from the evening to morning session, whereas morning FENO levels rose significantly only in patients with mild OSA (p = 0.03). Conclusion: Levels of 8-IsoP, though not FENO, distinguish children with OSA from those with PS or healthy, correlate with disease severity and closely predict OSA in the whole sample

Published
2018

34. ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children

Author

Kaditis, Athanasios G., primary, Alonso Alvarez, Maria Luz, additional, Boudewyns, An, additional, Abel, Francois, additional, Alexopoulos, Emmanouel I., additional, Ersu, Refika, additional, Joosten, Koen, additional, Larramona, Helena, additional, Miano, Silvia, additional, Narang, Indra, additional, Tan, Hui-Leng, additional, Trang, Ha, additional, Tsaoussoglou, Marina, additional, Vandenbussche, Nele, additional, Villa, Maria Pia, additional, Van Waardenburg, Dick, additional, Weber, Silke, additional, and Verhulst, Stijn, additional

Published
2017
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35. Obstructive sleep disordered breathing in 2-to 18-year-old children: diagnosis and management

Author

Kaditis, Athanasios G. Alonso Alvarez, Maria Luz Boudewyns, An and Alexopoulos, Emmanouel I. Ersu, Refika Joosten, Koen and Larramona, Helena Miano, Silvia Narang, Indra Trang, Ha and Tsaoussoglou, Marina Vandenbussche, Nele Villa, Maria Pia and Van Waardenburg, Dick Weber, Silke Verhulst, Stijn

Subjects
mental disorders, nervous system diseases, respiratory tract diseases
Abstract

This document summarises the conclusions of a European Respiratory Society Task Force on the diagnosis and management of obstructive sleep disordered breathing (SDB) in childhood and refers to children aged 2-18 years. Prospective cohort studies describing the natural history of SDB or randomised, double-blind, placebo-controlled trials regarding its management are scarce. Selected evidence (362 articles) can be consolidated into seven management steps. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are present (step 1). Central nervous or cardiovascular system morbidity, growth failure or enuresis and predictors of SDB persistence in the long-term are recognised (steps 2 and 3), and SDB severity is determined objectively preferably using polysomnography (step 4). Children with an apnoea-hypopnoea index (AHI) >5 episodes.h(-1), those with an AHI of 1-5 episodes.h(-1) and the presence of morbidity or factors predicting SDB persistence, and children with complex conditions (e.g. Down syndrome and Prader-Willi syndrome) all appear to benefit from treatment (step 5). Treatment interventions are usually implemented in a stepwise fashion addressing all abnormalities that predispose to SDB (step 6) with re-evaluation after each intervention to detect residual disease and to determine the need for additional treatment (step 7).

Published
2016

39. Pyridostigmine in Pediatric Intestinal Pseudo-obstruction: Case Report of a 2-year Old Girl and Literature Review.

Author

Di Nardo, Giovanni, Viscogliosi, Federica, Esposito, Francesco, Stanghellini, Vincenzo, Villa, Maria Pia, Parisi, Pasquale, Morlando, Alessia, Calò, Girolamo, and Giorgio, Roberto De

Subjects
ENTERIC nervous system, LITERATURE reviews, CHOLINESTERASE inhibitors, GASTROINTESTINAL motility, BOWEL obstructions, ESOPHAGEAL motility disorders
Abstract

Pediatric chronic intestinal pseudo-obstruction is a rare disorder characterized by a severe impairment of gastrointestinal motility leading to intestinal obstruction symptoms in the absence of mechanical causes. The diagnosis is usually clinical and diagnostic work is usually aimed to rule out mechanical obstruction and to identify any underlying diseases. Treatment is challenging and requires a multidisciplinary effort. In this manuscript we describe the youngest child successfully treated with the orally administrable, longacting, reversible anti-cholinesterase drug, pyridostigmine. Like other drugs belonging to cholinesterase inhibitors, pyridostigmine enhances gut motility by increasing acetylcholine availability in the enteric nervous system and neuro-muscular junctions. Based on the direct evidence from the reported case, we reviewed the current literature on the use of pyridostigmine in severe pediatric dysmotility focusing on intestinal pseudo-obstruction. The overall data emerged from the few published studies suggest that pyridostigmine is an effective and usually well tolerated therapeutic options for patients with intestinal pseudo-obstruction. More specifically, the main results obtained by pyridostigmine included marked reduction of abdominal distension, reduced need of parenteral nutrition, and improvement of oral feeding. The present case and review on pyridostigmine pave the way for eagerly awaited future randomized controlled studies testing the efficacy of cholinesterase inhibitors in pediatric severe gut dysmotility. [ABSTRACT FROM AUTHOR]

Published
2019
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44. Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management

Author

Kaditis, Athanasios G., primary, Alonso Alvarez, Maria Luz, additional, Boudewyns, An, additional, Alexopoulos, Emmanouel I., additional, Ersu, Refika, additional, Joosten, Koen, additional, Larramona, Helena, additional, Miano, Silvia, additional, Narang, Indra, additional, Trang, Ha, additional, Tsaoussoglou, Marina, additional, Vandenbussche, Nele, additional, Villa, Maria Pia, additional, Van Waardenburg, Dick, additional, Weber, Silke, additional, and Verhulst, Stijn, additional

Published
2015
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