A5028832258- Metabolism and Genetic Disorders
- Diabetes and associated disorders
- Renal Diseases and Glomerulopathies
- Renal Transplantation Outcomes and Treatments
- Amino Acid Enzymes and Metabolism
- Lymphatic Disorders and Treatments
- Genomics and Rare Diseases
- Childhood Cancer Survivors' Quality of Life
- Lymphatic System and Diseases
- Congenital heart defects research
- Diet and metabolism studies
- Hematological disorders and diagnostics
- Chronic Kidney Disease and Diabetes
- Cellular Mechanics and Interactions
- Blood disorders and treatments
- Bartonella species infections research
- Archaeological Research and Protection
- Pneumothorax, Barotrauma, Emphysema
- Clinical Nutrition and Gastroenterology
- Infectious Aortic and Vascular Conditions
- Connexins and lens biology
- Renal and Vascular Pathologies
- Organ Donation and Transplantation
- Glycogen Storage Diseases and Myoclonus
- Abdominal Surgery and Complications
University Medical Center Utrecht
2019-2025
Wilhelmina Children's Hospital
2019-2025
Utrecht University
2025
Institut NeuroMyoGène
2023
Hospices Civils de Lyon
2023
Inserm
2023
University of Florence
2023
Tallinn Health Care College
2023
Université Claude Bernard Lyon 1
2023
Centre National de la Recherche Scientifique
2023
Duchenne's muscular dystrophy is associated with severe, progressive muscle weakness and typically leads to death between the ages of 20 35 years. By inducing specific exon skipping during messenger RNA (mRNA) splicing, antisense compounds were recently shown correct open reading frame DMD gene thus restore dystrophin expression in vitro animal models vivo. We explored safety, adverse-event profile, local dystrophin-restoring effect a single, intramuscular dose an oligonucleotide, PRO051,...
Proteinuria is a poorly understood feature of many acquired renal diseases. Recent studies concerning congenital nephrotic syndromes and findings in genetically modified mice have demonstrated that podocyte molecules make pivotal contribution to the maintenance selective filtration barrier normal glomerulus. However, it unclear what role play proteinuria This study investigated mRNA protein expression several podocyte-associated Forty-eight patients with various diseases were studied,...
16p11.2 triplication is a rare chromosomal disorder associated with developmental delay, behavioral abnormalities, and various dysmorphic features. Here, we present case study of four-year-old girl triplication, whose healthy father has smaller duplication that partially overlaps the daughter. She global autism spectrum disorder, anxiety, sensory processing issues, alongside Genetic analysis revealed within region. We used different technical approaches to pinpoint exact genetic architecture...
Galactosemia is a group of hereditary disorders galactose metabolism. A new type galactosemia was discovered, caused by deficiency in mutarotase (GALM), which catalyzes the epimerization between beta- and alpha-D-galactose. All GALM-deficient patients reported literature (n = 44) had abnormal newborn screening (NBS) results or did not receive NBS 2). We present first patient with GALM who negative Netherlands identified at age 1.5 years during broad metabolic because her global developmental...
Focal segmental glomerulosclerosis (FSGS) is a common cause of end-stage renal disease. Albuminuria risk factor for FSGS and influenced by environmental, genetic, sex-specific factors. Podocytes play central role in the development albuminuria, but precise relationship between early glomerular podocyte-associated damage albuminuria unclear. Furthermore, experimental findings demonstrate sex difference FSGS. We investigated changes male Munich-Wistar-Frömter (MWF) rats, which spontaneously...
Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic TT1 therefore often used as marker newborn screening (NBS). While SA was long considered to be elevated in every patient, here we present recent false-negative screen. A nine-year-old boy presented with HCC cirrhotic liver. Additional tests the underlying cause unexpectedly revealed TT1....
Dried blood spot succinylacetone (SA) is often used as a biomarker for newborn screening (NBS) tyrosinemia type 1 (TT1). However, false-positive SA results are observed. Elevated may also be due to maleylacetoacetate isomerase deficiency (MAAI-D), which appears clinically insignificant. This study investigated whether urine organic acid (uOA) and quantitative maleic (Q-uMA) analyses can distinguish between TT1 MAAI-D. We reevaluated/measured uOA (GC-MS) and/or Q-uMA (LC-MS/MS) in available...
Abstract The sodium‐dependent multivitamin transporter that facilitates the uptake of water‐soluble vitamins biotin, pantothenic acid, and vitamin‐like substance lipoate is coded by SLC5A6 gene. Variants in this gene cause a relatively novel treatable metabolic disorder. Here we describe second case. A 17‐month‐old girl presented with hypoglycemia (2.0 mmol/L) severe acidosis (pH 6.87), leading to resuscitation. Her history revealed feeding problems from birth poor weight gain. Metabolic...
The Wilson and Jungner (W&J) Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods newborn screening (NBS), more inherited metabolic (IMDs) can technically be included, a revision was attempted. This study aimed formulate statements investigate whether those could elaborate on criterion treatability IMDs decide eligibility NBS. An online Delphi started among panel Dutch IMD experts...
Little is known regarding the composition of interstitial extracellular matrix kidney allografts with deteriorating function. Collagen I, III, and IV, collagen IV alpha3 chain, laminin beta2 chain were investigated in biopsies allografted kidneys chronic cyclosporine A nephrotoxicity (CsAT) (n = 17), rejection (CR) 12), or allograft nephropathy (CAN) 19). alpha-Smooth muscle actin expression was also examined. Normal native used as control samples 11). Biopsy studied routine light microscopy...
Abstract Dynamin plays an essential role in maintaining the structure and function of glomerular filtration barrier. Specifically, dynamin regulates actin cytoskeleton turnover nephrin podocytes, knocking down expression causes proteinuria. Moreover, promoting oligomerization with Bis‐T‐23 restores podocyte reduces proteinuria several animal models chronic kidney disease. Thus, is a promising therapeutic target for treating Here, we investigated pathophysiological under proteinuric...
Diffuse C4d staining in peritubular capillaries (PTCs) during an acute rejection episode (ARE) is the footprint of antibody-mediated rejection. In current clinical practice, diffuse C4d+ regarded as inferior prognostic sign. This case-control study investigated role mere for graft outcome ARE a well defined cohort similarly ARE-treated patients.All kidney transplant recipients authors' center from January 1, 1995 to December 31, 2005 were reviewed. From these patients, 151 had ARE. Paraffin...
Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, detection variants unknown significance (VUS) ABCD1 gene is increasing. In these cases, functional tests fibroblasts may help classify a variant as (likely) benign or pathogenic. We sought establish reference ranges ALD patients control subjects with aim helping determine pathogenicity VUS ABCD1. Fibroblasts from 36 male confirmed ALD, 26 healthy 17 individuals without...
Abstract Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member the GTPase family that plays an role in endocytic pathway, membrane protein recycling and signaling. Here we report on 12 individuals with nine different heterozygous de novo variants RAB5C. All but one patient missense (n = 9) exhibited macrocephaly, combined mild-to-moderate developmental delay. Patients loss function 2) had apparently more severe clinical phenotype refractory epilepsy...
Background and ObjectivesHeterozygous variants in RAR-related orphan receptor B (RORB) have recently been associated with susceptibility to idiopathic generalized epilepsy. However, few reports published so far describing pathogenic of this gene patients epilepsy intellectual disability (ID). In study, we aimed delineate the phenotype RORB provide arguments favor pathogenicity variants.MethodsThrough an international collaboration, analyzed seizure characteristics, EEG data, genotypes a...
A 25-year-old man was admitted with a long history of weakness and wasting. In fact, he said “was born—and fell ill.” He claimed to be still unmarried as result his illness. One year earlier had been pain in left hip. Despite several hospital admissions, an explanation for illness not found. He wasted, pale, slightly jaundiced. His chest, abdomen, extremities appeared normal. forehead maxillae were prominent, this prompted us take x-ray skull. The (Figure 1A) showed hair-on-end pattern...
Pellagra is a disease of poverty that treatable but easily overlooked. The caused by deficiency niacin and clinically characterized the triad dermatitis, diarrhoea dementia. We describe two cases pellagra in Malawian district hospital discuss pathogenesis, clinical manifestations treatment disease.
A 2-year-old girl presented with recurrent episodes of pharyngitis and a perineal rash. During the first episode, course antibiotics resulted in quick resolution symptoms. Yet few days later, her symptoms had recurred she was referred to our clinic. She febrile, lips were red fissured (figure 1A), tonsils enlarged red, pronounced rash 1 …