A5076283649- Thyroid Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Neonatal Health and Biochemistry
- Thyroid Cancer Diagnosis and Treatment
- Congenital heart defects research
- Metabolism and Genetic Disorders
- Thyroid and Parathyroid Surgery
- Genetic Syndromes and Imprinting
- Congenital Diaphragmatic Hernia Studies
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Pituitary Gland Disorders and Treatments
- Neuroblastoma Research and Treatments
- Neuroscience of respiration and sleep
- Genomic variations and chromosomal abnormalities
- Digestive system and related health
- Epigenetics and DNA Methylation
- Sexual Differentiation and Disorders
- Blood disorders and treatments
- Neonatal Respiratory Health Research
- Airway Management and Intubation Techniques
- Cancer, Hypoxia, and Metabolism
- Genomics and Rare Diseases
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Blood groups and transfusion
University of Amsterdam
2016-2025
Amsterdam University Medical Centers
2019-2025
Emma Kinderziekenhuis
2016-2025
Endo-ERN
2025
Vrije Universiteit Amsterdam
2022
Erasmus University Rotterdam
2016-2021
University of Zurich
2021
Amsterdam UMC Location University of Amsterdam
2009-2018
Boston Children's Hospital
2010
Spaarne Ziekenhuis
2005
BACKGROUND-AIMThe Jaffe method tests for creatinine based on the formation of a colored complex between and alkaline picrate but interfering substances can cause errors.The enzymatic reduces interferences not all labs adopted it due to costs.This study aims create statistical model correct produce results similar those from method, make an easy way adopt daily use. METHODSThree hundred thirty-three (333) patients were enrolled March 20 29, 2019, including walk-in in-patients.Serum values...
The most important reason for treating children with Prader-Willi syndrome (PWS) GH is to optimize their body composition.The aim of this ongoing study was determine whether long-term treatment can counteract the clinical course increasing obesity in PWS by maintaining improved composition brought during early treatment.This a multicenter prospective cohort study.We have been following 60 prepubertal 8 years continuous (1 mg/m(2)/d ≈ 0.035 mg/kg/d) and used same dual-energy x-ray...
Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. We identified a missense mutation the transducin β-like protein 1, X-linked (TBL1X) gene three relatives diagnosed with isolated CeH. TBL1X is part of thyroid hormone receptor-corepressor complex. The objectives study were identification patients unexplained CeH, Sanger sequencing affected individuals, clinical biochemical characterization; vitro...
Background: Recently, the first patients with resistance to thyroid hormone alpha (RTHα) due inactivating mutations in receptor (TRα) were identified. These are characterized by growth retardation, variable motor and cognitive defects, macrocephaly, abnormal function tests. The objective was characterize a young girl (18 months old) mutation both TRα1 TRα2, study effects of early levothyroxine (LT4) treatment. Methods: patient assessed clinically biochemically before during 12 LT4 In...
Abstract Context Pituitary stalk interruption syndrome (PSIS) consists of a small/absent anterior pituitary lobe, an interrupted/absent stalk, and ectopic posterior lobe. Mendelian forms PSIS are detected infrequently (<5%), polygenic etiology has been suggested. GLI2 variants have reported at relatively high frequency in PSIS. Objective To provide further evidence for non-Mendelian, Methods Exome sequencing (trio approach) 20 patients with isolated In addition to searching...
Congenital hypothyroidism (CH) may be of thyroidal (CHT) or central origin (CHC). Worldwide, most neonatal screening programs are TSH-based and effectively detect CHT. Only a few measure total free T4 TSH simultaneously stepwise, enabling detection CHT as well CHC. A frequently used argument against for CHC is its presumed mild hypothyroid character. In the recently published European Society Paediatric Endocrinology (ESPE) CH consensus guidelines on screening, diagnosis, management,...
Longitudinal data on bone mineral density (BMD) in children and adolescents with Prader-Willi Syndrome (PWS) during long-term GH treatment are not available.This study aimed to determine effects of puberty BMD total body (BMDTB), lumbar spine (BMDLS), apparent the (BMADLS) PWS.This was a prospective longitudinal Dutch PWS cohort.Seventy-seven who remained prepubertal for 4 years 64 received 9 participated study.The treatment, 1 mg/m(2)/day (≅ 0.035 mg/kg/d).BMDTB, BMDLS, BMADLS measured by...
It is not exactly known how many children develop the triphasic response (diabetes insipidus (DI)/hyponatremia/DI) immediately after surgery for childhood craniopharyngioma; neither it which factors predict this. We studied occurrence of primary craniopharyngioma in children, and aimed to identify possible predictors.Patients <18 years old who had undergone a resection between January 1990 February 2010 either 2 academic centers Amsterdam were retrospectively.Twenty-one patients (5 males)...
Background Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence other CeH with a Mendelian inheritance pattern. Methods performed exome sequencing in two families unexplained and subsequently Sanger sequenced unrelated idiopathic cases. clinical biochemical characterisation probands carriers identified by family screening. investigated IRS4 mRNA expression human hypothalamus pituitary...
To evaluate clinical characteristics of patients with central congenital hypothyroidism (CH), detected in the Dutch neonatal screening program. This included isolated CH but majority have multiple pituitary hormone deficiencies (MPHD).Nationwide, cross-sectional study.Data was collected on characteristics, endocrine tests and neuroimaging patients, by born between 1 January 1995 2015. Height pubertal status were assessed during a study visit. Isolated without confirmed genetic diagnosis...
Background: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion 14q32 or isolated methylation defect the MEG3-DMR. Studies on phenotypical characteristics in TS14 are scarce and patients with often experience delay diagnosis, which has adverse effects their health. characterized as either Prader–Willi-like, Silver–Russell-like Silver–Russell spectrum disorder. Methods: This study describes 15 who visited...
We present the case of a 15-year-old girl, with fifth cystic progression an adamantinomatous craniopharyngioma after multiple surgeries and previous local radiotherapy. She had severe visual impairment, panhypopituitarism including diabetes insipidus, several components hypothalamic damage, morbid obesity fatigue. To prevent further late effects hampering her quality survival, she was treated biweekly intravenous tocilizumab, anti-interleukin-6 agent, which stabilized cyst for prolonged...
Introduction: Excessive exposure to iodine early in life can cause primary hypothyroidism by failure escape the Wolff-Chaikoff effect. Although reported for intravenous iodinated contrast medium (ICM) and topical iodine, prospective studies on thyroid function after enterally administered ICM are lacking. This study aimed determine occurrence of enteral administration young infants. Methods: Prospective cohort between November 1st 2022 July 2024 infants <6 months age, who underwent...
Introduction Down syndrome (DS) is the most frequent genetic cause of intellectual disability. Despite fact that more than 50 years have passed since discovery its aberrations, exact pathogenesis DS phenotype has remained largely unexplained. It was recently hypothesized involves complex (epi)genetic, molecular and cellular determinants. To date, many reports addressed epigenetic aberrations associated with at different developmental stages/ages tissue types, but to our best knowledge not in...