Involvement of HLADQA1*05 in Patients with Inflammatory Bowel Disease Treated with Anti-TNF Drugs.

: Over the past decade, TNF inhibitors such as Infliximab and Adalimumab have become central to Inflammatory Bowel Diseases treatment, greatly enhancing patient outcomes. However, immunogenicity-where anti-drug antibodies diminish effectiveness-remains an issue, often requiring dose changes or combination therapies. Pharmacogenomics is increasingly applied in IBD to personalise treatment, especially since genetic factors like the HLA-DQA1*05 variant heighten the immunogenicity risk with IFX.

Role of gastric ultrasound in pediatric Menetrier's disease: Report of two cases.

Menetrier's disease (MD) is a protein-losing gastropathy characterized by acute generalized edema due to hypoalbuminemia. MD is rare in childhood, and it is commonly associated with cytomegalovirus infection. We reported two children, who presented with a history of generalized edema after some days of abdominal pain and diarrhea.

Mobile health technology in pediatric EGD quality indicators assessment: results from a national program of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition.

Background And Aims: Upper endoscopy (UE) procedures (EGD and ERCP) are an established standard of care in pediatric gastroenterology. The Pediatric Endoscopy Quality Improvement Network (PEnQuIN) recently published its pediatric-specific endoscopy quality guidelines. This study, initiated by the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition, aims to evaluate the adherence of Italian pediatric endoscopy centers (PECs) to these established quality standards.

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

Jansen-de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease-causing variants in PPM1D leading to JdVS.

Impact of COVID-19 pandemic on pediatric endoscopy: A multicenter study on behalf of the SIGENP Endoscopy Working Group.

Background: Aim of the present report was to investigate the repercussions of COVID-19 pandemic on the procedural volumes and on the main indications of pediatric digestive endoscopy in Italy.

Methods: An online survey was distributed at the beginning of December 2020 to Italian digestive endoscopy centers. Data were collected comparing two selected time intervals: the first from 1st of February 2019 to 30th June 2019 and the second from 1st February 2020 to 30th June 2020.

Laparo-Endoscopic Rendez-Vous in the Treatment of Cholecysto-Choledocolithiasis in the Pediatric Population.

Objectives: The incidence of choledocolithiasis is reported to be increasing in children. As for the adult population, several different therapeutic strategies have been described, however it is unclear which of those should be considered the gold standard. There is evidence-based literature in adults that supports a combined "rendez-vous" endoscopic retrograde cholangiopancreatography-laparoscopic cholecystectomy technique.

Incidental Ultrasound Diagnosis of Neonatal Intussusception Secondary to Meckel's Diverticulum in a Neurologically Impaired Child.

BACKGROUND Intussusception is the most common cause of intestinal obstruction in children, with a peak incidence usually before the second year of age, while in neonates it is a rare entity. We describe a delayed and incidental diagnosis of neonatal intussusception secondary to Meckel's diverticulum in a neonate with shaken baby syndrome (SBS). This is, to the best of our knowledge, the first reported case of a neonatal intussusception with a Meckel's diverticulum as a lead point in a neurologically impaired child.

Overexpression of endogenous retroviruses in children with celiac disease.

Human endogenous retroviruses (HERVs) represent 8% of our genome. Although no longer infectious, they can regulate transcription of adjacent cellular genes, produce retroviral RNAs, and encode viral proteins that can modulate both innate and adaptive immune responses. Based on this, HERVs have been studied and proposed as contributing factors in various autoimmune disorders.

Evaluation of Graft Fibrosis, Inflammation, and Donor-specific Antibodies at Protocol Liver Biopsies in Pediatric Liver Transplant Patients: A Single-center Experience.

Background: The impact of graft fibrosis and inflammation on the natural history of pediatric liver transplants is still debated. Our objectives were to evaluate the evolution of posttransplant fibrosis and inflammation over time at protocol liver biopsies (PLBs), risk factors for fibrosis, presence of donor-specific antibodies (DSAs), and/or their correlation with graft and recipient factors.

Methods: A single-center, retrospective (2000-2019) cross-sectional study on pediatric liver transplant recipients who had at least 1 PLB, followed by a longitudinal evaluation in those who had at least 2 PLBs, was conducted.

Management of Hepatitis-B Virus Infection in Immunocompromised Children: A Single Center Experience.

Objectives: The aims of the study was to expand the pediatric experience on hepatitis-B virus (HBV) reactivation, a known complication in patients with hematologic malignancies or on immunosuppression.

Methods: Retrospective appraisal of HBV therapy/prophylaxis in immunocompromised children, studied from April 2006 to March 2020.

Results: Eighteen HBV-positive patients, 5 girls, median age 11.

Foreign-body Ingestions in Children During COVID-19 Pandemic in a Pediatric Referral Center.

In February 2020, the COVID-19 pandemic overwhelmed Italy. We retrospectively reviewed all attendances and emergency (A&E) admissions due to foreign-body ingestions (FBIs) to an Italian pediatric referral hospital, from February 24 to April 24, 2020, COVID-19 lockdown and compared them with the same period in the previous 4 years. A total of 101 cases were recorded.

Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.

Background: paucity of interlobular bile ducts is an important observation at liver biopsy in the diagnostic work-up of neonatal cholestasis. To date, other than in the Alagille syndrome, syndromic paucity of interlobular bile ducts has been documented in four cholestatic neonates with HFN1β mutations. A syndromic phenotype, known as renal cysts and diabetes syndrome (RCAD), has been identified.

Diagnosis and treatment of Helicobacter pylori in the pediatric population.

Although about 35 years have elapsed since the discovery of the Helicobacter pylori, its diagnosis and the choice of optimal eradication therapy are still to be defined. Over time, there has been an increase in interest, publications, recommendations and guidelines. Moreover, management of the disease in pediatric subjects differs somewhat to that of adults and requires a more delicate approach leading to alternative strategies for both diagnosis and treatment.

Up-regulation of the monocyte chemotactic protein-3 in sera from bone marrow transplanted children with torquetenovirus infection.

Background: Torquetenovirus (TTV) represents a commensal human virus producing life-long viremia in approximately 80% of healthy individuals of all ages. A potential pathogenic role for TTV has been suggested in immunocompromised patients with hepatitis of unknown etiology sustained by strong proinflammatory cytokines.

Objectives: The aim of this study was to investigate the sera immunological profile linked to TTV infection in bone marrow transplant (BMT) children with liver injury.