Dysbiosis, metabolism and chronic-degenerative diseases: a trilogy in Inborn Error of Metabolism

Chiara Montanari ¹, Sara Parolisi ², Elisa Borghi ³, Lorenza Putignani ⁴ , Giulia Bassanini ³, Juri Zuvadelli ⁵, Cristina Bonfanti ⁶, Albina Tummolo ⁷, Carlo Dionisi Vici ⁸, Giacomo Biasucci ⁹, Alberto Burlina ¹⁰, Maria Teresa Carbone ²* e Elvira Verduci ^1,3per conto del Gruppo di Lavoro Microbiota Intestinale e Malattie Metaboliche Ereditarie della Società Italina Malattie Metaboliche Ereditarie e Screening Neonatale (SIMMESN)

¹Dipartimento di Pediatria, Ospedale dei Bambini Vittore Buzzi, Università di Milano
²U.O.S.D. Malattie Metaboliche, A.O.R.N. Santobono Pausilipon, Napoli
³Dipartimento di Scienze della Salute, Università di Milano
⁴Dipartimento di Medicina Diagnostica e di Laboratorio,U.O.C. Microbiologia e Diagnostica Immunologica, Unità di Ricerca di Microbioma Umano, Area di Medicina di Laboratorio Multimodale, Ospedale Pediatrico Bambino Gesù, IRCCS, Roma
⁵Dipartimento di Clinica Pediatrica, ASST Santi Paolo e Carlo, Ospedale San Paolo, Università di Milano
⁶Unità di Malattie Metaboliche e Rare, Clinica Pediatrica , Fondazione MBBM, Ospedale San Gerardo, Monza
⁷U.O.C. Malattie Metaboliche e Genetica Clinica, Ospedale Pediatrico Giovanni XXIII, Bari
⁸U.O.C. Malattie Metaboliche, Ospedale Pediatrico Bambino Gesù, Roma
⁹Department of Paediatrics&Neonatology, Guglielmo da Saliceto Hospital, Piacenza
¹⁰U.O.C .Malattie Metaboliche Ereditarie, Dipartimento di Servizi Diagnostici, Azienda Ospedaliera Universitaria di Padova, Padova

The host-associated gut microbiota contributes to maintaining human health, and any disruption of eubiosis seems to affect the human health status, predisposing to Non-communicable diseases. This article investigates the microbiota status of patients with Inborn errors of metabolism and the possible links between dysbiosis and pro-inflammatory state in these patients.

Update on weaning and on-demand complementary feeding

Raffaella Panza, MD, PhD (foto)¹, Maria Elisabetta Baldassarre, MD²

¹Department of Biomedical Science and Human Oncology, Section of Neonatology and Neonatal Intensive Care Unit, “Aldo Moro” University of Bari
²Department of Interdisciplinary Medicine - Section of Neonatology and Neonatal Intensive Care Unit, “Aldo Moro” University of Bari

Weaning is a time of great change in the routines of parents and children. Pediatricians and healthcare professionals should support caregivers through this delicate process. “Responsive feeding” should be encouraged, while alternative weaning methods should not be allowed as a parent’s selfdetermination.

New insights in the diagnosis and treatment of Cystic Fibrosis liver disease

Angela Sepe, Antonella Tosco, Valeria Raia

Centro Regionale Fibrosi Cistica, Sezione Pediatrica, Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli Federico II

In Cystic Fibrosis liver disease (CFLD) has a nonunivocal definition, including difficulties in terms of epidemiology, natural history, as well as in the therapeutic choice where UDCA is currently the only available drug. Severe liver disease has a poor prognosis in CF. A better comprehension of safety/efficacy of innovative therapies on CFLD severity is mandatory to identify patients that might show more benefits than risks.

The role of surgery in pediatric IBD today

Michela Cing Yu Wong e Girolamo Mattioli

Dipartimento di Chirurgia IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini, 5, Genova

The incidence of pediatric inflammatory bowel disease is increasing, and the risk of surgery is remarkable. Pediatric Severe Ulcerative Colitis could require surgical treatment, three- or two-stages are recommended and laparoscopy, when feasible, should be the preferred approach. Surgery is a valid alternative in case of localized Crohn Disease in children with prolonged postoperative remission.

Melatonin and the gastrointestinal tract: what evidence

Silvia Salvatore

Pediatria, Ospedale “F. Del Ponte”, Università dell’Insubria, Varese

Melatonin has an important role in human health, acting as a chrono-biotic molecule, regulating the sleep-wake rhythm, and promoting falling asleep. In addition, through extra-epiphyseal production and interaction with specific receptors, it has antioxidant, anti-inflammatory, anti-apoptotic, cytoprotective and neuroprotective, antihypertensive, circulatory, and gastrointestinal actions. Some studies have suggested a possible therapeutic effect of melatonin in different gastrointestinal diseases, such as gastroesophageal reflux disease, irritable bowel syndrome, and infantile colic. However, these effects need to be further demonstrated in humans and, at present, do not allow for clear indications for use in pediatric gastrointestinal disorders.

Back diagnosis: when pancreatitis is well accompanied

Chiara Rubino ^1,2, Mariangela Stinco^1,2, Sandra Trapani ², Elisa Bartolini ^1,2

¹ Epatologia Pediatrica, Ospedale Pediatrico Meyer, Firenze
² Pediatria Medica, Ospedale Pediatrico Meyer, Firenze

A 15 year-old patient is conducted to the Emergency Department for asthenia, abdominal pain and mild jaundice. Blood exams show elevated pancreatic enzymes and cholestatic hepatitis. Abdomen ultrasound shows intra- and extra-hepatic biliary dilatation and increased pancreas dimension. During hospitalization, intravenous rehydration and analgesic treatment are started. Cholangio-magnetic resonance confirms the biliary dilatation and pancreatic oedema with mild dilatation of the Wirsung’s duct, in the absence of biliary lithiasis. Among laboratory exams, increased serum IgG4 are detected. In view of the clinical, laboratory and instrumental findings, endoscopic ultrasound-guided pancreatic biopsy is performed and histology is consistent with autoimmune pancreatitis (AIP). Moreover, during hospitalization, the patient undergoes gastrointestinal endoscopy for persistently bloody stools and is diagnosed with ulcerative colitis. Because of the laboratory and instrumental hepatic findings, liver biopsy is performed and pathology is consistent with primary sclerosing cholangitis. The patient starts steroid treatment for the management of autoimmune pancreatitis, ursodeoxycholic acid for liver disease and mesalazine for bowel disease. After the achievement of normal pancreatic findings, azathioprine is added for ulcerative colitis. AIP is rare in paediatric age. The most frequent clinical manifestations are abdominal pain and jaundice, associated with increased pancreatic enzymes and/or altered pancreatic imaging findings. IgG4 are increased in 22% of paediatric cases. Diagnosis should be confirmed by pancreatic biopsy before the start of steroid treatment. As in our case, AIP can be associated with extra-pancreatic diseases, which should be investigated in presence of consistent clinical manifestations or laboratory alterations.

Diamanti A. ^a , Lezo A. ^b, D’Antiga L. ^c, Gandullia P. ^d, Spagnuolo MI. ^e, Roggero P. ^f,g, Capriati T. ^a, e Lionetti P^h

^aUnità di Gastroenterologia e Riabilitazione Nutrizionale, Ospedale Pediatrico Bambino Gesù, Piazza Sant’Onofrio 4, Roma, Italia
^bUnità di Dietetica e Nutrizione Clinica, Ospedale Pediatrico Regina Margherita, Città della Salute e della Scienza Torino, Piazza Polonia 94, Torino, Italia
^cEpatologia Pediatrica, Gastroenterologia e Trapianti Ospedale Papa Giovanni XXIII, Piazza OMS 1, Bergamo, Italia
^dGastroenterologia ed Endoscopia Pediatrica, IRCCS Istituto G.Gaslini, via Gerolamo Gaslini 5, Genova, Italia
^eDipartimento di Scienze Mediche Traslazionali, Università “Federico II” di Napoli , Corso Umberto I 40, Napoli, Italia
^fUnità di Terapia Intensiva Neonatale, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, via Francesco Sforza 35, Milano, Italia
^g,Dipartimento di Scienze Cliniche e Salute di Comunità, Università degli Studi di Milano, 20122 Milano, Italia
^hDipartimento NEUROFARBA, Università di Firenze – SOC Gastroenterologia e Nutrizione, Ospedale Pediatrico Meyer, viale Gaetano Pieraccini 24, Firenze, Italia

Negli ultimi anni, l’armamentario terapeutico per l’insufficienza intestinale (IF) da sindrome dell’intestino corto (SBS) è stato arricchito dagli analoghi del GLP-2. In particolare, la teduglutide (Ted) in Italia è stata approvata nel gennaio 2021 dall’Agenzia italiana di regolamentazione dei farmaci (AIFA) per l’uso nei pazienti con IF-SBS di età ≥1 anno e ora può essere prescritta dai centri di riferimento regionali, con spese interamente a carico del Servizio Sanitario Nazionale. A seguito dell’approvazione per uso pediatrico nel nostro Paese e, date le scarse evidenze nell’infanzia, la rete pediatrica per la IF della Società Italiana di Gastroenterologia, Epatologia e Nutrizione Pediatrica (SIGENP) ha condiviso le modalità di gestione di questo farmaco in un documento il cui scopo principale è quello identificare i migliori candidati al trattamento unendo la prospettiva della efficacia a quella del risparmio economico (stante il costo del farmaco). Sulla base della letteratura disponibile e delle opinioni di esperti sono state dunque prodotte le raccomandazioni di utilizzo della Ted riassunte in questo articolo e dedicate a gastroenterologi pediatrici e nutrizionisti che si occupano di IF-SBS.

Medical devices with hyaluronic acid and chondroitin sulfate for gastrosesophageal reflux disease

C. Romano

Direttore A.O. Universitaria “G. Martino” Messina

Medical devices (MedDev) are defined as “any instrument… material or article intended by the manufacturer to be used, alone or in combination, for human beings for one or more of the following medical purposes: … prevention… treatment or alleviation of disease… modification of anatomy or physiological or pathological processes… and does not achieve its principal intended action by pharmacological, immunological, or metabolic means in or on the human body, but which may be assisted in its function by such means”. A medical device based on a mixture of hyaluronic acid and chondroitin sulfate in a bioadhesive carrier, Lutrol® F 127, has been proposed for the treatment of the symptoms of gastroesophageal reflux disease with a persistent mucosal barrier that acts as a buffering agent. Ex vivo studies were performed in the swine model and in the adult population, while no experience exists in the pediatric population. MedDev can be used in association with acid secretion inhibitor drugs and enhance the drug’s action by favoring faster mucosal healing.

Nutrition in eosinophilic diseases gastrointestinal

Francesca Laganà e Claudio Romano

UO di Gastroenterologia Pediatrica e Fibrosi Cistica Dipartimento di Patologia Umana e dell’età evolutiva Università di Messina

Eosinophilic gastrointestinal diseases are rare chronic inflammatory disorders characterized by pathologic eosinophilic infiltration of the gastrointestinal tract (esophagus, stomach, small intestine, and colon). Today we have several therapeutic options represented by proton pump inhibitor (PPI), steroids, diet therapy and biologics.

EXTRA-FACILE, EXTRA-DIFFICILE… EXTRA-INTESTINALE: Le manifestazioni extraintestinali delle patologie gastrointestinali pediatriche. Cosa abbiamo visto a Bologna?

Marco Deganello Saccomani¹, Chiara Maria Trovato², Luca Scarallo³, Edoardo Marrani⁴, Iria Neri⁵, Flavio Labriola⁶, Silvia Corrado⁷, Michele Di Toma⁸

¹ Paediatric Clinic, Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, 37126 Verona, Italy
² Hepatology Gastroenterology and Nutrition Unit, Bambino Gesù Children Hospital, 00165 Rome, Italy
³ Gastroenterology and Nutrition Unit, Meyer Children’s Hospital, Florence, Italy
⁴ Department of Pediatrics, Rheumatology Unit, Meyer Children’s University Hospital, Florence, Italy
⁵ Dermatology Unit-IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy. Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater Studiorum, University of Bologna, Bologna, Italy
⁶ Pediatric Gastroenterology Unit, Maggiore Hospital, Largo Bartolo Nigrisoli, 2, 40133 Bologna, Italy
⁷ Department of MedicineDAME- Division of Pediatricsm University of Udine, Udine, Italy
⁸ Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy