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.

Successful treatment of acute liver failure due to Wilson's disease: Serendipity or fortuity?

Background: Acute liver failure (ALF) may be the first and most dramatic presentation of Wilson's disease (WD). ALF due to WD (WD-ALF) is difficult to distinguish from other causes of liver disease and is a clear indication for liver transplantation. There is no firm recommendation on specific and supportive medical treatment for this condition.

Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Background And Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study.

Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.

Background: In 2018, our center started a program to offer genetic diagnosis to patients with kidney and liver monogenic rare conditions, potentially eligible for organ transplantation. We exploited a clinical exome sequencing approach, followed by analyses of in silico gene panels tailored to clinical suspicions, obtaining detection rates in line with what reported in literature. However, a percentage of patients remains without a definitive genetic diagnosis.

Long-term outcomes and health-related quality of life 20 years after pediatric liver transplantation.

Pediatric liver transplantation is a challenging surgical procedure requiring complex post-transplant patient management. Liver transplantation in children should ensure long-term survival and good health-related quality of life (HR-QOL), but data in the literature are conflicting. With the aim of investigating survival and psychosocial outcomes of patients transplanted during childhood, we identified 40 patients with ≥ 20-year follow-up after liver transplantation regularly followed up at our Institution.

Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis.

Background & Aims: PEDFIC 2, an ongoing, open-label, 72-week study, evaluates odevixibat, an ileal bile acid transporter inhibitor, in patients with progressive familial intrahepatic cholestasis.

Methods: PEDFIC 2 enrolled and dosed 69 patients across two cohorts; all received odevixibat 120 μg/kg per day. Cohort 1 comprised children from PEDFIC 1, and cohort 2 comprised new patients (any age).

A Case of Paradoxical Arthralgia Following Anti-TNF Monoclonal Antibody Administration in a Patient With New-Onset Pediatric Crohn's Disease.

Anti-TNF antibodies have become a first-line therapy in moderate-to-severe inflammatory bowel diseases. However, there may be some rare paradoxical events and those affecting joints causing severe symptoms need a scrupulous differential diagnosis. When these events occur, it may be necessary to discontinue treatment and shift to another drug class.

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.

Inadequate Hospital Practices to Prevent Mother-to-Child Transmission of Hepatitis B Virus Infection: A European Survey.

Objectives: Prevention of vertical transmission of hepatitis B virus (HBV) infection is crucial to eliminate viral hepatitis as a major public health threat by 2030. We aimed to assess the current hospital policies and practices implemented before, at, and after birth, and to evaluate potential barriers to the full application of international guidelines.

Methods: A web-based survey was supported by PENTA Foundation and distributed across Europe from October to December 2021.

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.

COVID-19 as a Trigger of Acute-on-Chronic Hepatitis B Presenting With Undetectable INR Due to Hypercoagulability in a 16-Year-Old Girl.

In patients with SarS-CoV2 and chronic Hepatitis B (HBV) co-infection liver injury is associated with a worse prognosis. We report a case of acute chronic liver failure (ACLF) with encephalopathy due to HBV reactivation during COVID-19 with undetectable INR. Thromboelastography showed a profile consistent with a prothrombotic state so INR was not a reliable marker of liver function until plasma infusion.

New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with deficiency: does it fit with the syndrome?

Background: ) is a member of the homeodomain-containing family of transcription factors located on 17q12. deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic insufficiency) and to an underdiagnosed liver involvement. Differently from , the correlation between hepatocellular carcinoma (HCC) and germline deficiency has been poorly evaluated.

Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis.

Background: Methylmalonic acidemia (MMAemia) is characterized by accumulation of methylmalonic acid (MMA) in all body tissues. To minimize disease-related complications, isolated kidney (KTx), liver (LTx) or combined liver-kidney transplantation (LKTx) have been suggested. However, the impact of these different transplant strategies on outcome are unclear.

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.

Background: Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited paediatric liver diseases resulting from mutations in genes that impact bile secretion. We aimed to evaluate the effects of odevixibat, an ileal bile acid transporter inhibitor, versus placebo in children with PFIC.

Methods: Patients eligible for this 24-week, randomised, double-blind, completed, phase 3 study were paediatric outpatients diagnosed with PFIC1 or PFIC2 who had pruritus and elevated serum bile acids at screening.

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.

Monitoring Tacrolimus Concentrations in Whole Blood and Peripheral Blood Mononuclear Cells: Inter- and Intra-Patient Variability in a Cohort of Pediatric Patients.

Tacrolimus (TAC) is a first-choice immunosuppressant for solid organ transplantation, characterized by high potential for drug-drug interactions, significant inter- and intra-patient variability, and narrow therapeutic index. Therapeutic drug monitoring (TDM) of TAC concentrations in whole blood (WB) is capable of reducing the incidence of adverse events. Since TAC acts within lymphocytes, its monitoring in peripheral blood mononuclear cells (PBMC) may represent a valid future alternative for TDM.

Timely Birth Dose Vaccine to Prevent Vertical Transmission of Hepatitis B: A Single Center Experience on the Road to the WHO Elimination Goals in Italy.

Italy was one of the first industrialized countries to implement a program of routine vaccination against hepatitis B virus (HBV) infection. However, currently, no HBV vaccine is administered at birth if the screened mother is HBsAg negative, whilst babies born to HBsAg positive mothers are given vaccine and hepatitis B immunoglobulin, within 12-24 post-delivery hours. A single center retrospective analysis of policies and practices to prevent mother-to-child transmission of HBV was carried out, to evaluate their adherence to HBV care guidelines.

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.