A5065927334- Metabolism and Genetic Disorders
- Hemoglobinopathies and Related Disorders
- Cystic Fibrosis Research Advances
- Iron Metabolism and Disorders
- Neonatal Health and Biochemistry
- Blood groups and transfusion
- Amino Acid Enzymes and Metabolism
- Prenatal Screening and Diagnostics
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Respiratory viral infections research
- Diabetes and associated disorders
- Adrenal Hormones and Disorders
- Sexual Differentiation and Disorders
- Pediatric health and respiratory diseases
- Peroxisome Proliferator-Activated Receptors
- Thyroid Disorders and Treatments
- Biosimilars and Bioanalytical Methods
- RNA modifications and cancer
- Diet and metabolism studies
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- Machine Learning in Bioinformatics
- Erythrocyte Function and Pathophysiology
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
National Institute for Public Health and the Environment
2012-2024
Leiden University Medical Center
2004-2006
Leiden University
2006
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...
Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures has contributed a reduction in childhood mortality from SCD. Policies methodologies NBS vary different countries, this might have consequences the quality clinical outcomes across Europe. A two-day Pan-European consensus conference was held Berlin April 2017 order appraise current status...
X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing insufficiency or progressive cerebral white matter lesions (cerebral ALD) an early age. If untreated, often fatal. Women not ALD. Newborn screening in males enables prospective monitoring timely therapeutic intervention, thereby preventing irreparable damage saving lives. The Dutch Ministry of Health adopted advice Council...
Background The birth prevalence of severe haemoglobinopathies such as sickle cell disease (SCD) in the Netherlands has been estimated to be at least 50 newborns per year. Neonatal screening for SCD was added Dutch programme January 2007. We here evaluated three high performance liquid chromatography (HPLC) systems application neonatal haemoglobinopathies, and present results a subsequent pilot programme. Methods Variant NewBorn Screening (Vnbs) HPLC system (Bio-Rad) validated by analysing...
Newborn screening (NBS) for classic congenital adrenal hyperplasia (CAH) consists of 17-hydroxyprogesterone (17-OHP) measurement with gestational age-adjusted cutoffs. A second heel puncture (HP) is performed in newborns inconclusive results to reduce false positives.We assessed the accuracy and turnaround time current CAH NBS algorithm comparison alternative algorithms by performing a second-tier 21-deoxycortisol (21-DF) pilot study.Dried blood spots (DBS) positive 17-OHP (immunoassay)...
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...
Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth due to disorders of the gland (thyroidal CH, CH-T), or hypothalamus pituitary (central CH-C). The Dutch Newborn Screening (NBS) strategy primarily based on determination thyroxine (T4) concentrations in dried blood spots followed, if necessary, by thyroid-stimulating (TSH) and thyroxine-binding globulin (TBG) measurement enabling detection both CH-T CH-C. A calculated T4/TBG ratio serves an indirect measure for...
Cerebrotendinous Xanthomatosis (CTX) is a treatable disorder of bile acid synthesis caused by deficiency 27-sterol hydroxylase -encoded CYP27A1- leading to gastrointestinal and progressive neuropsychiatric symptoms. Biochemically, CTX characterized accumulation the alcohol cholestanetetrol glucuronide (GlcA-tetrol) tauro-chenodeoxycholic (t-CDCA) tauro-trihydroxycholestanoic (t-THCA). To ascertain feasibility newborn screening (NBS) we performed study with deidentified Dutch dried blood...
The assessment of newborn screening (NBS) algorithms’ performance to ensure quality improvements is a continuous process: false-positive referrals can enable optimisations in the shorter term, but false-negative are often only discovered many years after has taken place [...]
We have conducted a broad confidential inquiry among 401 hospital departments trying to estimate the number of patients affected with severe forms hemoglobinopathies living in The Netherlands. With less than 30% response we registered 559 all age categories whom 77.0% are sickle cell disease and 17.5% beta-thalassemia (thal) major. that real figure could be around 800 patients, more six times higher published 1995 on which reluctance offer prevention was based. actual figures incidence...
Objectives To evaluate the relationship between FAST peak percentage by adapted Bio-Rad Vnbs analysis using valley-to-valley integration and genotypes with aim to improve differentiation severe α-thalassaemia forms (HbH disease) milder disease types. Method DNA for was performed on 91 dried blood spot samples presenting normal elevated levels, selected during three years of Dutch national newborn screening. Results Significant differences were found without mutations, regardless genetic...
Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by thyroidal (primary CH) or hypothalamic/pituitary (central disturbances. Most CH newborn screening (NBS) programs are thyroid-stimulating-hormone (TSH) based, thereby only detecting primary CH. The Dutch NBS based on measuring total thyroxine (T4) from dried blood spots, aiming to detect and central at the cost of more false-positive referrals (FPRs) (positive predictive value (PPV) 21% in 2007-2017)....
We report two novel α2-globin gene mutations found in the same Surinamese family. The proband, a newborn presenting during neonatal screening with 21.3% Hb Bart's (γ4), proved to be carrier of common –α3.7 deletion and codon 32 (ATG>AGG) transversion that we named Rotterdam. father carried point mutation borderline hemoglobin (Hb), MCV low MCH values. mother presented significant microcytic hypochromic anemia also second TAT>TAG generating stop at position 24. Shortly thereafter, Rotterdam...
Newborn screening for classical galactosemia in the Netherlands is performed by five laboratories and based on measurement of galactose 1-phosphate-uridyltransferase (GALT) activity total (TGAL) heel prick blood spots. Unexpected problems with GALT assay posed a challenge to switch new assay. The aim this study was make an analytical clinical evaluation assays replace current establish cut-off values (COVs).First, manual from PerkinElmer (NG-1100) GSP were compared analyzing 626 anonymous...
We recently described a rare frameshift mutation in the delta-globin gene Dutch patient, association with new of Ggamma-globin promoter [Ggamma -37 (A-->T)] moderately elevated Hb F level 2.3%. The delta at codon 91 (+T) has been once before our laboratory 1989, complex Belgian family Ggamma (Agammadeltabeta)0-thalassemia (thal) and levels, without (Agammadeltabeta)0-thal deletion some individuals. Analysis patients from 1989 revealed presence same all patients, who were also carriers...
In The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot (DBS) succinylacetone (SUAC) as a biomarker. However, high false-positive (FP) rates and false-negative (FN) case show that the Dutch TT1 NBS protocol is suboptimal. search of optimization options, we evaluated protocols used by other programs their performance. We distributed an online survey to program representatives worldwide (N = 41). Questions focused on organization performance changes since...
We present the case of a 39-year-old male mixed Black and Chinese Surinamese origin referred because abdominal pain extreme tiredness. The patient reported that he had received single blood transfusion in his youth presented at intake with severe microcytic hypochromic anemia. A chest X-ray computer tomography (CT)-scan revealed bilateral mediastinal lymphadenopathy interstitial infiltrates. Elevated Hb F (80%) an unbalanced syntheis ratio (β/α = 0.18) were compatible β-thalassemia (thal)...