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• W2979702419 abstract "Nicastro et al proposes a diagnostic protocol for neonatal/infantile cholestasis, implemented by next-generation sequencing gene panels (NGSGP).1Nicastro E. Di Giorgio A. Marchetti D. Barboni C. Cereda A. Iascone M. et al.Diagnostic yield of an algorithm for neonatal and infantile cholestasis integrating next-generation sequencing.J Pediatr. 2019; 211: 54-62Abstract Full Text Full Text PDF Scopus (28) Google Scholar This protocol targeted infants with “low-γGT cholestasis”2Maggiore G. Bernard O. Riely C.A. Hadchouel M. Lemonnier A. Alagille D. Normal serum gamma-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis.J Pediatr. 1987; 111: 251-252Abstract Full Text PDF PubMed Scopus (80) Google Scholar and normal stools, identifying 8 monogenic liver disorders in 12 patients. In patients with hypo/acholic stools, after a basic laboratory assessment, liver biopsy, and intraoperative cholangiography were performed in 92 of 96 (96%) and 84 of 96 (88%) patients, respectively. In this arm of the protocol, NGSGP played a minor role, being tested only at the end of the work-up in 19 of 96 infants and leading to a definite diagnosis in only 9; 4 with Alagille syndrome (AGS) were exposed to an invasive procedure despite their risk of bleeding.3Lykavieris P. Crosnier C. Trichet C. Meunier-Rotival M. Hadchouel M. Bleeding tendency in children with Alagille syndrome.Pediatrics. 2003; 111: 167-170Crossref PubMed Scopus (45) Google Scholar Moreover, cholangiography in infants with cholestatic AGS and cystic fibrosis can mimic biliary atresia4Altman R.P. Abramson S. Potential errors in the diagnosis and surgical management of neonatal jaundice.J Pediatr Surg. 1985; 20: 529-534Abstract Full Text PDF PubMed Scopus (23) Google Scholar exposing them to the risk of unnecessary surgery. A preliminary systematic diagnostic screening of those infants for AGS by radiography, echocardiography, and ophthalmologic assessment, and cystic fibrosis, may avoid the risk of unnecessary invasive procedures. Similarly, serum cortisol and thyroid hormone levels and viral serology should be tested early. Performing these tests after NGSGP, as suggested in Table II in the report by Nicastro et al1Nicastro E. Di Giorgio A. Marchetti D. Barboni C. Cereda A. Iascone M. et al.Diagnostic yield of an algorithm for neonatal and infantile cholestasis integrating next-generation sequencing.J Pediatr. 2019; 211: 54-62Abstract Full Text Full Text PDF Scopus (28) Google Scholar led to a diagnostic delay or to unneeded invasive procedures (eg, in an infant with septo-optic dysplasia). Moreover, the clinical finding of hard hepatomegaly, strongly suggestive of biliary atresia5Alagille D. Cholestasis in the first three months of life.Prog Liver Dis. 1979; 6: 471-485PubMed Google Scholar and a fasting sonography, may reveal a combination of signs suggestive of biliary atresia6Koob M. Pariente D. Habes D. Ducot B. Adamsbaum C. Franchi-Abella S. The porta hepatis microcyst: an additional sonographic sign for the diagnosis of biliary atresia.Eur Radiol. 2017; 27: 1812-1821Crossref Scopus (19) Google Scholar potentially avoiding liver biopsy. In conclusion, we still need a sensitive and minimally invasive protocol for infants with hypo/acholic stools.7Sciveres M. Milazzo M.P. Maggiore G. A scoring system for biliary atresia: is this the right one?.J Hepatol. 2015; 62: 985-986Abstract Full Text Full Text PDF PubMed Scopus (6) Google Scholar The use of NGSGP as suggested by Nicastro et al1Nicastro E. Di Giorgio A. Marchetti D. Barboni C. Cereda A. Iascone M. et al.Diagnostic yield of an algorithm for neonatal and infantile cholestasis integrating next-generation sequencing.J Pediatr. 2019; 211: 54-62Abstract Full Text Full Text PDF Scopus (28) Google Scholar is of value in infants with normal stools or in cases where biliary atresia has been excluded. Hospitalizations for Respiratory Syncytial Virus and Vaccine-Preventable Infections in the First 2 Years After Pediatric Liver TransplantThe Journal of PediatricsVol. 182PreviewTo examine in liver transplant recipients at centers participating in the Pediatric Health Information System dataset the number of hospitalizations for respiratory syncytial virus (RSV) and vaccine-preventable infections (VPIs) in the first 2 years after transplantation, morbidity and mortality associated with these hospitalizations, and costs associated with these hospitalizations. Full-Text PDF Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation SequencingThe Journal of PediatricsVol. 211PreviewTo evaluate the performance of a diagnostic protocol for neonatal/infantile cholestasis in which the main clinical patterns steered the early use of different genetic testing strategies. Full-Text PDF ReplyThe Journal of PediatricsVol. 216PreviewWe thank Sciveres et al for the interest in our work and for the opportunity to respond to the issues raised. We described in a prospective study the use of large scale parallel genetic testing, exploiting the diagnostic potential of next generation sequencing (NGS) in neonatal and infantile cholestasis. The major and earliest crossroad was the stool color assessment. Sciveres et al commented on the use of liver biopsy and intraoperative cholangiogram to diagnose biliary atresia in patients with acholic stools. Full-Text PDF" @default.
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• W2979702419 title "Diagnostic protocol of neonatal and infantile cholestasis: can it be improved?" @default.
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