Publications

AimThe aim of this study was to search for any association between demographic, clinical, and therapeutic characteristics of patients with a low-type anorectal malformation (ARM) and their long-term bowel function.MethodsIn this retrospective study, 108 patients were contacted, of which 80 patients (74%) were included. Demographic, clinical, and therapeutic information was obtained from the patientsU+2019 medical records. The standardized ...

BackgroundCoronavirus disease 2019 (COVID-19) is a clinically heterogeneous entity with several host,environmental, and viral risk factors identified to date. COVID-19 in children generally manifestsasymptomatic or mild. Pediatric patients with chronic medical conditions are potentially at increasedrisk for severe COVID-19, although convincing data is lacking. Among these children, we aimed tostudy COVID-19 incidence and disease ...

Cobalamin or vitamin B12 (vitB12) is involved in DNA synthesis, haematopoiesis and myelinisation. Consequently, vitB12 deficiency causes various symptoms, such as megaloblastic anaemia, neurologic signs or pancytopenia. Despite possible severe symptoms, vitB12 deficiency can present asymptomatically. We report six paediatric patients with different aetiologies of vitB12 deficiency ranging from a subtle to a more overt presentation. VitB12 ...

Background Enteral tube feeding (ETF) is often used in an attempt to optimize the nutritional status. The aim of this study was to observe the long term effect of ETF and to compare the start of ETF with the current European guidelines on nutrition care in CF. Method From all patients who received ETF (ETFp) between February 2000 and September 2016 in the Ghent University Hospital (GUH) or Brussels University Hospital (BUH), z-scores for body ...

The pulmonary function of patients with cystic fibrosis (CF) is associated with nutritional status not only expressed as body mass index (BMI) but also as fat-free mass index (FFMI). This study evaluated the effect of a residential rehabilitation program on nutritional status (BMI, FFMI). The rehabilitation program provided supervised respiratory and nutritional treatment and daily physical activity for 3 weeks (median stay 20 (19-25) days). At ...

Ciliopathies are a group of clinical and molecular heterogeneous conditions with pleiotropic manifestations affecting the central nervous system, renal, liver, skeletal, and ocular systems. Biallelic pathogenic variants in DCDC2 cause a ciliopathy primarily presenting with neonatal sclerosing cholangitis (NSC). Pathogenic variants in DCDC2 have further been reported in the context of nephronophthisis and non-syndromic recessive deafness. ...

Background HHH syndrome is a rare autosomal recessive disorder of the urea cycle, caused by a deficient mitochondrial ornithine transporter. We report the first successful liver transplantation in HHH syndrome performed in a seven-year-old boy. The patient presented at 4 weeks of age with hyperammonemic coma. The plasma amino acid profile was suggestive of HHH syndrome, and the diagnosis was confirmed when sequencing of the SLC25A15 gene ...