Long-term outcome of combined radiologic and surgical strategy for the management of biliary complications after pediatric liver transplantation.

Objectives: We aimed to analyze the risk factors for management failure of BC after pediatric liver transplantation (pLT) by retrospectively analyzing primary pLT performed between 1997 and 2018 (n = 620 patients).

Results: In all, 117/620 patients (19%) developed BC. The median (range) follow-up was 9 (1.

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.

Background & Aims: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disease caused by biallelic variations in . Data reporting on the impact of genotype and of response to ursodeoxycholic acid (UDCA) therapy on long-term outcomes are scarce.

Methods: We retrospectively describe a cohort of 38 patients with PFIC3 with a median age at last follow-up of 19.

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.

Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase. HT1 has a large clinical spectrum with acute forms presenting before six months of age, subacute forms with initial symptoms occurring between age 6 and 12 months, and chronic forms after 12 months of age. Without treatment, HT1 results in the accumulation of toxic metabolites leading to liver disease, proximal tubular dysfunction, and porphyria-like neurological crises.

A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France.

Objective: To describe the clinical features and course of liver involvement in a cohort of patients with Niemann-Pick type C disease (NP-C), a severe lysosomal storage disorder.

Study Design: Patients with genetically confirmed NP-C (NPC1, n = 31; NPC2, n = 3) and liver involvement before age 6 months were retrospectively included. Clinical, laboratory test, and imaging data were collected until the last follow-up or death; available liver biopsy specimens were studied using anti-CD68 immunostaining.

Sclerotherapy of oesophageal varices may induce chronic constrictive pericarditis in children.

Constrictive pericarditis is rare in children and can be difficult to diagnose. It has been described in adults after sclerotherapy of oesophageal varices but not in children. We report two cases of chronic constrictive pericarditis after sclerotherapy of oesophageal varices in children with portal cavernoma.

Is there an association between pelvic organ prolapse and oxidative stress? A systematic review.

Introduction And Hypothesis: The pathophysiology of pelvic organ prolapse (POP) has not been fully elucidated, although accumulating evidence suggests that oxidative stress is involved. The present systematic review comprehensively discusses this topic.

Methods: The PubMed/Medline, Scopus, and Web of Science databases were searched for relevant studies published up to May 2021.

History and current trends in the treatment of idiopathic overactive bladder.

Objective: Historical and current view on the therapy of overactive bladder.

Methods: This review summarizes the historical approach and current therapy of overactive bladder. The articles were gathered from Pubmed and Scopus databases.

ATP7B variant spectrum in a French pediatric Wilson disease cohort.

Background/aim: The spectrum of ATP7B variants varies significantly according to geographic distribution, and there is insufficient data on the variants observed in the French population.

Methods: Clinical data of 113 children included in the French WD national registry were gathered from March 01, 1995 to July 01, 2020. Data included epidemiological, clinical, laboratory, genetics.

Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.

Objectives: To describe a cohort of Wilson disease (WD) pediatric cases, and to point out the diagnostic particularities of this age group and the long-term outcome.

Methods: Clinical data of 182 pediatric patients included in the French WD national registry from 01/03/1995 to 01/06/2019 were gathered.

Results: Diagnosis of WD was made at a mean age of 10.

Hepatic hydrothorax in a child and its management.

Hepatic hydrothorax is a rare complication of portal hypertension. The optimal treatment for this condition is liver transplantation. Liver transplantation is significantly more manageable in children who weigh more than 8 kg.

Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.

Adenosine kinase (ADK) deficiency is characterized by liver disease, dysmorphic features, epilepsy and developmental delay. This defect disrupts the adenosine/AMP futile cycle and interferes with the upstream methionine cycle. We report the clinical, histological and biochemical courses of three ADK children carrying two new mutations and presenting with neonatal cholestasis and neurological disorders.

Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease.

Objective: To evaluate the effect of liver transplantation (LT) in patients with Wilson disease (WD) with severe neurologic worsening resistant to active chelation.

Methods: French patients with WD who underwent LT for pure neurologic indication were retrospectively studied. Before LT and at the last follow-up, neurologic impairment was evaluated with the Unified Wilson's Disease Rating Scale (UWDRS) score, disability with the modified Rankin Scale (mRS) score, and hepatic function with the Model for End-stage Liver Disease score, together with the presence of a Kayser-Fleischer ring (KFR), brain MRI scores, and copper balance.

Management of childhood aplastic anemia following liver transplantation for nonviral hepatitis: A French survey.

Background: Hepatitis-associated aplastic anemia (AA) is a rare syndrome combining acute hepatitis of variable severity and AA. Hepatitis may be severe enough to require urgent liver transplantation (LT). Herein, we describe clinical presentation and management of a cohort of pediatric patients diagnosed with AA after undergoing LT for nonviral hepatitis.

Uterine rupture during pregnancy.

Objective: A review of contemporary knowledge about uterine rupture during pregnancy, followed by a case-report of a patient with uterine rupture during pregnancy without an uterine scar.

Design: Review and case report.

Setting: Clinic of Obstetrics and Gynecology, University Hospital, Hradec Králové; Department of Gynecology and Obstetrics, Hospital Náchod.

Optimization of the transition process of youth with liver disease in adulthood: A position paper from FILFOIE, the French network for paediatric and adult rare liver diseases.

Transition describes a progressive and highly coordinated process encompassing the transfer of a young patient from paediatric care to the adult-care system. Transfer of medical care for an adolescent to adult services is a complex and challenging task requiring close collaboration of both the paediatric and adult-care providers. It must take into account the medical, psychosocial and educational needs of the young adult.

Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III.

Introduction: The main objective of this study was to describe muscle involvement on whole-body magnetic resonance imaging scans in adults at different stages of glycogen-storage disease type III (GSDIII).

Methods: Fifteen patients, 16-59 years of age, were examined on a 3-T system. The examinations consisted of coronal and axial T1-weighted images or fat images with a Dixon technique, and were scored for 47 muscles using Mercuri's classification.

Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood.

Background: Oral cholic acid (CA) replacement has been shown to be an effective therapy in children with primary bile acid synthesis defects, which are rare and severe genetic liver diseases. To date there has been no report of the effects of this therapy in children reaching adulthood. The aim of the study was to evaluate the long-term effectiveness and safety of CA therapy.

Morphological characterization of chronic antibody-mediated rejection in ABO-identical or ABO-compatible pediatric liver graft recipients.

This study aims to define the morphological profile associated with the presence of donor-specific antibodies (DSAs) and/or C4d immunostaining in ABO-identical or compatible pediatric liver grafts. Ten-year protocol liver graft biopsies performed at 131.3 ± 15.

Long-term outcome of liver transplantation in childhood: A study of 20-year survivors.

We report the results of a study of survival, liver and kidney functions, and growth with a median follow-up of 24 years following liver transplantation in childhood. From 1988 to 1993, 128 children underwent deceased donor liver transplantation (median age: 2.5 years).

Long-term successful liver-kidney transplantation in a child with atypical hemolytic uremic syndrome caused by homozygous factor H deficiency.

Background: Rational options for the treatment of end-stage renal disease (ESRD) due to atypical hemolytic uremic syndrome (aHUS) in children are still open to discussion. In the case of human complement factor H (CFH) deficiency, the choice is either kidney transplantation in combination with eculizumab, a humanized anti-C5 monoclonal antibody, or a combined liver-kidney transplantation.

Case-diagnosis/treatment: A child with a homozygous CFH deficiency underwent a successful liver-kidney transplantation.