Nathalie Rock
A5045763842- Pediatric Hepatobiliary Diseases and Treatments
- Gallbladder and Bile Duct Disorders
- Drug Transport and Resistance Mechanisms
- Organ Transplantation Techniques and Outcomes
- Liver Disease and Transplantation
- Congenital Anomalies and Fetal Surgery
- Liver Disease Diagnosis and Treatment
- Liver Diseases and Immunity
- Pharmacological Effects and Toxicity Studies
- Immunodeficiency and Autoimmune Disorders
- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Genetic and Kidney Cyst Diseases
- SARS-CoV-2 and COVID-19 Research
- Cytomegalovirus and herpesvirus research
- Antioxidant Activity and Oxidative Stress
- Digestive system and related health
- Hemoglobinopathies and Related Disorders
- COVID-19 Clinical Research Studies
- Renal Transplantation Outcomes and Treatments
- Acute Myeloid Leukemia Research
- Clinical Nutrition and Gastroenterology
- Polyomavirus and related diseases
- Celiac Disease Research and Management
- COVID-19 Impact on Reproduction
University of Geneva
2020-2025
University Hospital of Geneva
2013-2025
Swiss Finance Institute
2022-2024
Geneva College
2024
Hôpital de l'enfance
2023
Swiss Paediatric Oncology Group
2021-2023
Innsbruck Medical University
2023
Universität Innsbruck
2023
Children's Hospital of Eastern Ontario
2022
University of Ottawa
2022
Background and Aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, real‐world lacking. This study aimed to elucidate the natural history of liver disease in contemporary, international cohort children with ALGS. Approach Results: was multicenter retrospective clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 August 2019. Native survival (NLS) event‐free rates...
Background and Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, approved pharmacologic therapy for cholestatic in ALGS. Since long-term placebo-controlled studies are not feasible or ethical children rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials aligned harmonized natural history cohort the G lobal AL agille A lliance...
Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis its natural history, effects predicted protein truncating mutations (PPTMs), and possible associations serum bile acid (sBA) concentrations surgical biliary diversion (SBD) with long-term outcome. We aimed provide insights by using the largest genetically defined cohort...
Abstract Incubation of adrenal homogenates tocopherol-deficient rats was shown to produce a compound which identified as malonaldehyde. This product formed pink color with thiobarbituric acid (TBA) had the same absorption characteristics authentic malonaldehyde-TBA complex. The malonaldehyde production in vitro an index lipid peroxidation, tested by TBA test, has been evaluated and compared various tissue control rats. Lipid peroxidation liver reached maximum level 1 week. In contrast,...
Background and Aims: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, the main causes are viral infections (12%–16%) inherited metabolic diseases (14%–28%). Yet, in up to 50% of cases underlying etiology remains elusive, challenging clinical management, including transplantation. We systematically studied indeterminate PALF referred for genetic evaluation by whole-exome sequencing (WES), analyzed phenotypic biochemical markers, diagnostic yield WES this...
To examine the physical, psychological, and social well-being of children with without special healthcare needs after pandemic-related restrictions were lifted. Drawing on three-wave data from SEROCoV-KIDS prospective, population-based cohort, we performed an outcome-wide, longitudinal analysis to investigate association (none, moderate, or complex needs) at Time 1 (September 2022 through February 2023) (15 outcomes) 2 (May September 2023), adjusting for characteristics prior outcome values...
ABSTRACT Background Post‐transplant lymphoproliferative disorders (PTLD) may significantly impair outcomes in children after solid organ transplantation (SOT). Diagnosis and treatment be challenging. We analyze a representative pediatric liver transplant (LT) cohort light of these challenges. Methods Pediatric LT recipients monitored by the Swiss Liver Center from 2009 to 2021 with suspicion Epstein–Barr virus (EBV) driven PTLD were included. All cases retrospectively reviewed using World...
Adult solid organ transplant recipients (SOTRs) have decreased responsiveness to severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) vaccination and higher incidence of infection, but there are few data on the serological response in pediatric SOTR. The aim this study was determine SARS-CoV-2 liver (LT) kidney (KT) compare it with adult A European, prospective, multicenter performed. Samples were taken at 7 32 wk following COVID-19 endpoints measured by ELISA. total 42 (16...
Abstract Objectives In 2022, the Biliary Atresia and Related Diseases (BARD) community reached a consensus for definition of suspected confirmed cholangitis biliary atresia (BA) patients after hepatoportoenterostomy (HPE). This study assessed new standardized BARD in retrospective, multicenter cohort study. Methods We included BA cases managed between 2010 2020 at Hannover Medical School Geneva University Hospitals' Swiss Pediatric Liver Center. The assesses four clinical items...
Abstract Background Hepatic osteodystrophy refers to bone disorders associated with chronic liver disease, including children undergoing transplantation (LT). The aim of this study was quantify the prevalence pathological fractures (PF) in before and after LT identify factors for their occurrence. Methods Children aged 0–18 years who underwent from 1/2005 12/2020 were included retrospective study. Data on patient demographics, types anatomical locations fracture biological workups extracted....
The Swiss Autoimmune Hepatitis Cohort Study is a nationwide registry, initiated in 2017, that collects retrospective and prospective clinical data biological samples from patients of all ages with autoimmune hepatitis treated at hepatology centres. Here, we report the analysis first 5 years registry data.A total 291 have been enrolled, 30 whom were diagnosed before 18 age composed paediatric cohort. Paediatric cohort: median diagnosis 12.5 (range 1-17, interquartile range (IQR) 8-15), 16...
Tacrolimus is a calcineurin inhibitor characterized by narrow therapeutic index and high intra- inter-individual pharmacokinetic variability. Therapeutic drug monitoring in whole-blood the standard procedure. However, tacrolimus extensively binds to erythrocytes, distribution trough concentrations are strongly affected hematocrit. High at low hematocrit may result unbound plasma increased toxicity. We present case of 16-year-old girl with kidney liver transplant whom context led significant...
Acute Graft-versus-Host Disease (aGvHD) is a frequent complication after Hematopoietic Stem Cell Transplantation (HSCT). Its gastrointestinal subtype associated with high mortality, especially in steroid-refractory cases. Managing Steroid-Refractory aGvHD (SR-aGvHD) remains challenging due to the lack of validated second-line immunosuppressive strategies. Mesenchymal Stromal Cells (MSCs) are therapeutic option for SR-aGvHD, but its efficacy and clinical response children varies. Two recent...
In adult therapy, arsenic trioxide (ATO) and all-trans-retinoic acid (ATRA) are recognized as active treatment of relapsed acute promyelocytic leukemia (APL). The efficacy this combination in pediatric APL has not yet been well established. We report the case a 6-year-old girl with APL, PML-RARα mutation, treated ATO ATRA. Over period 5 months, she received total, 75 doses intravenous 40 oral Currently, 22 months after relapse, is still complete remission. Here, we describe child limited...
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in
Immune-mediated hemolytic anemia following SOT is a rare disorder, the risk factors for which are unknown. Our purpose was to analyze seemingly increased incidence in our center with aim identify predisposing factors. This recipients single-center retrospective study reviewed medical records of 96 pediatric LT between 2000 and 2013. IHA defined as acute positive direct antiglobulin test. Seven cases immune-mediated were identified (incidence 8.5%). Three presented during first 3 months...
Limited data exist about the impact of coronavirus disease 2019 (COVID-19) pandemic on training and clinical practice young doctors. The aim this study was to evaluate paediatric gastroenterologists in posts during first wave European COVID pandemic.All Young members Society for Paediatric Gastroenterology Hepatology Nutrition (ESPGHAN) (YE) received a multiple-choice questionnaire concerning (if any) their practice, mental health, quality care provided fellowship/training experience. survey...