Histological features of liver disease development in the Atp7b mouse: a model of Wilson's disease.

Aims: Wilson's disease (WD) is caused by mutations in the ATP7B gene, resulting in copper accumulation and toxicity in liver and brain tissues. Due to the initial asymptomatic liver involvement, the progression of liver injuries in WD stays primarily unknown. Atp7b-/- knockout mice have been shown to be an appropriate model of WD for liver involvement.

Increase of recurrent central line-associated bloodstream infections in children with home parenteral nutrition in a rehabilitation care facility compared to home.

Background And Aims: Central line-associated bloodstream infections (CLABSIs) are the main complication in children with home parenteral nutrition (HPN) and some patients develop recurrent CLABSIs (REC-CLABSIs), defined as two or more infections within six months. Our aims were to assess the incidence and to characterize the risk factors of REC-CLABSIs in children with HPN.

Methods: We characterized 79 HPN children from 2014 to 2019 and calculated the incidence of CLABSIs.

Therapeutic Approach of Very Early-Onset Inflammatory Bowel Disease in a Loeys-Dietz Syndrome Child.

Heterozygous TGFBR2 loss-of-function mutation is an extremely rare cause of very-early onset inflammatory bowel disease (VEOIBD) as, so far, only three cases have been reported in the literature. VEOIBD therapeutic management remains a real challenge for clinicians. Here, we described an interesting new case of Loeys-Dietz syndrome presenting severe, very early intestinal inflammation associated with dysmorphic features, aortic arch tortuosity joint hyper laxity and severe scoliosis.

A prospective case-control pilot study to evaluate bone microarchitecture in children and teenagers on long-term parenteral nutrition using HR-pQCT.

Long-term parenteral nutrition (PN) may induce bone complications. Tridimensional bone imaging techniques such as high-resolution peripheral quantitative computed tomography (HR-pQCT) allow the assessment of both compartmental volumetric densities and microarchitecture. Our aim was to evaluate these parameters in children and teenagers receiving long-term PN.

Combined use of creatinine and cystatin C improves the detection of renal dysfunction in children undergoing home parenteral nutrition.

Background: Renal dysfunction can complicate home parenteral nutrition (HPN). The aims were, in the context of pediatric HPN, to assess renal function using the measured glomerular filtration rate (mGFR), determine the most accurate formula(s) to estimate GFR, and identify possible underlying mechanisms of renal impairment.

Methods: A retrospective study was performed in 2 centers.

Prenatal imaging features suggestive of liver gestational allo immune disease.

We report prenatal imaging features of four cases of neonatal hemochromatosis due to an alloimmune disease. All cases exhibited intra uterine growth restriction (IUGR) without arguments for a vascular etiology, associated with oligohydramnios. Placental hydrops was present in 75% of cases.

Evaluation of the accuracy of exchangeable copper and relative exchangeable copper (REC) in a mouse model of Wilson's disease.

Wilson's disease (WD) is caused by mutations in the ATP7B gene responsible for a toxic copper overload mainly in the liver and the central nervous system. Phenotypic heterogeneity may challenge the diagnostic confirmation. Exchangeable copper (CuEXC) has recently been proposed as a new marker of WD, and its ratio to the total serum copper (Cus), Relative Exchangeable Copper (REC = CuEXC/Cus), as a diagnostic marker.

Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease.

Background & Aims: Measuring of the relative exchangeable copper seems to be a promising tool for the diagnosis of Wilson disease. The aim of our study is to determine the performance of REC for the diagnosis of Wilson disease in a population of patients with chronic liver diseases.

Methods: Measuring of exchangeable serum copper levels and relative exchangeable copper was performed in a group of Wilson disease patients at diagnosis or at clinical deterioration because of non-compliance (group 1, n=9), a group of stable WD patients (group 2, n=40), and two groups of patients (adult and paediatric) followed for non-Wilsonian liver diseases (group 3, n=103 and group 4, n=49 respectively).

Paediatric liver transplanted patients and prevalence of hepatitis E virus.

Background: Hepatitis E is an emerging disease in developed countries and is usually asymptomatic, particularly in children. Chronic infection is possible in immunocompromised individuals. In the context of a liver transplant, it can simulate a rejection.

Dramatic increase of central venous catheter-related infections associated with a high turnover of the nursing team.

Background & Aims: This retrospective study evaluated the impact of new organization during the moving to a new university pediatric hospital on the incidence of central catheter-related blood stream infections (CRBSIs) among children on long-term parenteral nutrition.

Methods: The study ran from April 2007 to March 2014, starting a year prior to reorganisation of the department of pediatric Hepato-Gastroenterology and Nutrition associated to moving the children to a new hospital in April 2008, and continuing for 6 years following the move. During this time, data from all children hospitalized in this department who received parenteral nutrition (PN) for more than 15 days were analysed.

Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure.

Objective: To define an algorithm to improve diagnosis of neonatal hemochromatosis (NH) related to gestational alloimmune liver disease (GALD), which is diagnosed by immunohistochemistry demonstrating activated complement at hepatocytes (IDACH).

Study Design: We assessed 56 instances of fetal death or neonatal liver failure (NLF; 2006-2009), 29 (7 stillborns, 22 NLF) with NH, and 27 (5 stillborns, 22 NLF) without NH (non-NH). Immunohistochemistry was retrospectively performed in 21 cases.

Transient neonatal liver disease after maternal antenatal intravenous Ig infusions in gestational alloimmune liver disease associated with neonatal haemochromatosis.

Objectives: Neonatal haemochromatosis is a rare gestational disease that results in severe foetal liver disease with extrahepatic iron overload, sparing the reticuloendothelial system. Recurrence can be prevented with intravenous immunoglobulin (IVIG) infusions during pregnancy, supporting an alloimmune aetiology. The aim of the study was to assess the effect of antenatal treatment with IVIG infusion on the outcome of pregnancies in women with a history of documented neonatal haemochromatosis likely owing to gestational alloimmune disease and to analyse IVIG tolerance.

[Deep vein thrombosis revealing myeloproliferative syndrome in two adolescents].

Deep vein thrombosis occurs in 30% of patients with essential thrombocythemia, but rarely at initial diagnosis. We report two pediatric patients with essential thrombocythemia revealed by atypical deep vein thrombosis. First, a 16-year-old girl presented Budd-Chiari syndrome revealed by a hemorrhagic shock.

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.

Pitt-Hopkins syndrome (PTHS) is characterized by distinctive facial dysmorphism, profound intellectual disability, and the possible occurrence of epilepsy and breathing anomalies. It is caused by haploinsufficiency of the TCF4 gene. No significant difference in clinical severity has been reported to date between PTHS patients carrying 18q21 deletions including the TCF4 gene, and those harboring TCF4 point mutations, suggesting a lack of genotype/phenotype correlation.

[Pediatric nutrition: Severe deficiency complications by using vegetable beverages, four cases report].

Introduction: The use of vegetable beverages improperly called « vegetable milk » is promoted by food faddism to replace dairy products, even in infant diet whereas it is totally inadequate.

Case Reports: Case 1: a 9 month-old infant fed by a rice beverage for 2 months presented hypoalbuminemia (7 g/L) with kwashiorkor syndrome complicated by severe sepsis. Case 2: a 14 month-old infant fed by a rice beverage for 2 months had iron and vitamin B12 deficiency with deep anemia (Hb 35 g/L) and tissue hypoxia (hyperlactacidemia).

French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations.

Neonatal hemochromatosis is a rare disease that causes fetal loss and neonatal death in the 1st weeks of life and is one of the most common causes of liver failure in the neonate. The diagnosis is mostly made retrospectively, based on histopathologic features of severe liver fibrosis associated with hepatic and extrahepatic siderosis. Several etiologies may underlie this phenotype, including a recently hypothesized gestational alloimmune disease.

[New insights into perinatal hemochromatosis].

Perinatal hemochromatosis (PH) includes neonatal acute liver failure (ALF) with cirrhosis and extrahepatic iron overload sparing the reticuloendothelial system. This is the main cause of neonatal ALF. Prognosis is very poor, usually with neonatal death or neonatal orthotopic liver transplantation occurring in more than 70%.