Anita Boelen
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View article: Natural course of subclinical hyperthyroidism in primary care in the Netherlands
Natural course of subclinical hyperthyroidism in primary care in the Netherlands Open
Background Subclinical hyperthyroidism (SHT), a low serum thyroid-stimulating hormone (TSH) and normal free thyroxine (FT4) concentration, has potential health implications, yet the epidemiology and factors influencing its natural course i…
View article: Thyroid hormone receptor α signaling shapes innate and adaptive immune responses during viral infection
Thyroid hormone receptor α signaling shapes innate and adaptive immune responses during viral infection Open
Objective Thyroid hormones (TH) are well-known regulators of the immune system. However, the precise immunomodulatory mechanisms of TH action in immune cells remain elusive. In a previous study, an essential role of the TH receptor α (TRα)…
View article: Insights into the stability of serum calcitonin and a comparison of three serum calcitonin immunoassays
Insights into the stability of serum calcitonin and a comparison of three serum calcitonin immunoassays Open
Calcitonin in serum remains stable for 5 h at room temperature and upon five freeze-thaw cycles. The method comparison between the Cobas e601 and Liaison XL showed good agreement, whereas the Atellica IM 1300 assay resulted in 13% higher c…
View article: Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82
Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82 Open
The authors wish to make the following correction to their paper published in the International Journal of Neonatal Screening [...]
View article: Evaluation of Newborn Screening for Diseases Using <scp>C5</scp>‐<scp>OH</scp> as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of <scp>C5</scp>‐<scp>OH</scp> Screening in the Netherlands
Evaluation of Newborn Screening for Diseases Using <span>C5</span>‐<span>OH</span> as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of <span>C5</span>‐<span>OH</span> Screening in the Netherlands Open
In 2007, the Dutch newborn screening (NBS) program was expanded to include C5‐OH as a marker to screen for three inborn errors of metabolism (IEMs): 3‐methylcrotonyl‐CoA carboxylase deficiency (3‐MCCD), 3‐hydroxy‐3‐methylglutaryl‐CoA lyase…
View article: 21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation
21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation Open
Objective Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an inherited adrenal steroid synthesis disorder included in Dutch newborn screening (NBS) since 2002. Screening involves measuring 17-hydroxyprogesterone (1…
View article: Cost–Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study
Cost–Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study Open
X-linked adrenoleukodystrophy (ALD) is an inherited metabolic disorder that can cause adrenal insufficiency and cerebral ALD (cALD) in childhood. Early detection prevents adverse health outcomes and can be achieved by newborn screening (NB…
View article: Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone
Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone Open
Currently, Dutch newborns are screened for tyrosinemia type 1 (TT1) using succinylacetone (SA) as the biomarker. Although the sensitivity of the test is high, a high number of false positives is observed. Here, the aim is to evaluate the c…
View article: Newborn screening for central congenital hypothyroidism: past, present and future
Newborn screening for central congenital hypothyroidism: past, present and future Open
Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth and constitutes one of the most common causes of preventable intellectual disability worldwide. Central CH is caused by insufficient pituitary or hypothalamic…
View article: Newborn screening and the screening laboratory: past, present and future
Newborn screening and the screening laboratory: past, present and future Open
Thyroid hormone (TH) is essential for brain development in utero and during the first 2 to 3 years of life. The negative effects of TH deficiency on brain development are irreversible. Early detection of TH deficiency in neonates (congenit…
View article: Steroid hormone concentrations in dried blood spots: A comparison between capillary and venous blood samples
Steroid hormone concentrations in dried blood spots: A comparison between capillary and venous blood samples Open
DBS prepared from (residual) venous blood collected in EDTA blood tubes can be used for future development and validation of LC-MS/MS methods to quantify steroid hormones, except for corticosterone, in capillary DBS.
View article: Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide
Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide Open
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 a false-negative (FN) case show that the Dutch TT1 NBS …
View article: Neonatal reference intervals for serum steroid hormone concentrations measured by LC-MS/MS
Neonatal reference intervals for serum steroid hormone concentrations measured by LC-MS/MS Open
Objectives Congenital adrenal hyperplasia (CAH) is a rare, inherited disorder of adrenal steroid synthesis. In many countries it is part of the neonatal screening program enabling early diagnosis and treatment. In case of an abnormal neona…
View article: The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands
The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands Open
Inconclusive and false-positive newborn screening (NBS) results can cause parental stress and increase healthcare expenditures. These results can be reduced by improving NBS algorithms. This was recently done for Congenital Hypothyroidism …
View article: Disturbed function of TBL1X has a differential effect on T3 regulated gene expression in two human liver cell models
Disturbed function of TBL1X has a differential effect on T3 regulated gene expression in two human liver cell models Open
Background: Mutations in TBL1X, part of the NCoR1/SMRT corepressor complex, were identified in patients with hereditary X-linked central congenital hypothyroidism and associated hearing loss. The role of TBL1X in thyroid hormone (TH) actio…
View article: Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1 variant
Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1 variant Open
Transducin β-like 1 X-linked receptor 1 (mouse Tbl1xr1) or TBL1X/Y related 1 (human TBL1XR1), part of the NCoR/SMRT corepressor complex, is involved in nuclear receptor signaling. Variants in TBL1XR1 cause a variety of neurodevelopmental d…
View article: Stability of steroid hormones in dried blood spots (DBS)
Stability of steroid hormones in dried blood spots (DBS) Open
Objectives Steroid hormone levels of patients may be monitored via dried blood spot (DBS) sampling at home. Stability of steroid hormones in DBS samples, however, needs to be established. Methods DBS samples from healthy volunteers were co…
View article: A systematic review of subclinical hyperthyroidism guidelines: a remarkable range of recommendations
A systematic review of subclinical hyperthyroidism guidelines: a remarkable range of recommendations Open
Background Subclinical thyroid diseases are often the subject of debate concerning their clinical significance, the appropriateness of diagnostic testing, and possible treatment. This systematic review addresses the variation in internatio…
View article: The need for the GREAT+ score to predict relapse in Graves’ disease: a questionnaire among patients and internal medicine specialists
The need for the GREAT+ score to predict relapse in Graves’ disease: a questionnaire among patients and internal medicine specialists Open
Purpose Graves’ disease (GD) is an auto-immune cause of hyperthyroidism. First-line treatment often consists of a 12–18 month course of antithyroid drugs (ATD). After discontinuation of ATD, GD relapses in approximately 50% of patients. Th…
View article: The Differential Effect of a Shortage of Thyroid Hormone Compared with Knockout of Thyroid Hormone Transporters Mct8 and Mct10 on Murine Macrophage Polarization
The Differential Effect of a Shortage of Thyroid Hormone Compared with Knockout of Thyroid Hormone Transporters Mct8 and Mct10 on Murine Macrophage Polarization Open
Innate immune cells, including macrophages, are functionally affected by thyroid hormone (TH). Macrophages can undergo phenotypical alterations, shifting between proinflammatory (M1) and immunomodulatory (M2) profiles. Cellular TH concentr…
View article: The hypothalamic–pituitary–thyroid axis is intact in male Irs4 knockout mice
The hypothalamic–pituitary–thyroid axis is intact in male Irs4 knockout mice Open
Objective Loss of function mutations in the insulin receptor substrate 4 ( IRS4 ) gene cause a rare form of X-linked congenital central hypothyroidism in boys and men. Affected individuals show decreased thyroid-stimulating hormone (TSH) s…
View article: Should we depend on reference intervals from manufacturer package inserts? Comparing TSH and FT4 reference intervals from four manufacturers with results from modern indirect methods and the direct method
Should we depend on reference intervals from manufacturer package inserts? Comparing TSH and FT4 reference intervals from four manufacturers with results from modern indirect methods and the direct method Open
Objectives Correct interpretation of thyroid function tests relies on correct reference intervals (RIs) for thyroid-stimulating hormone (TSH) and free thyroxine (FT4). ISO15189 mandates periodic verification of RIs, but laboratories strugg…
View article: Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model
Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model Open
Objective Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by thyroidal (primary CH) or hypothalamic/pituitary (central CH) disturbances. Most CH newborn screening (NBS) programs are thyroid-stimula…
View article: How low can we (reliably) go? A method comparison of thyroid-stimulating hormone assays with a focus on low concentrations
How low can we (reliably) go? A method comparison of thyroid-stimulating hormone assays with a focus on low concentrations Open
Objective International guidelines concerning subclinical hyperthyroidism and thyroid cancer advice absolute cut-off values for aiding clinical decisions in the low range of thyroid-stimulating hormone (TSH) concentrations. As TSH assays a…
View article: Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1 Open
Dried blood spot succinylacetone (SA) is often used as a biomarker for newborn screening (NBS) for tyrosinemia type 1 (TT1). However, false‐positive SA results are often observed. Elevated SA may also be due to maleylacetoacetate isomerase…
View article: Stability of TSH receptor antibody concentrations and comparability of its immunoassays
Stability of TSH receptor antibody concentrations and comparability of its immunoassays Open
The Alinity immunoassay showed comparable TRAb results, even though slightly more positive results compared to the KRYPTORand slightly more negative results compared to the Cobas immunoassay were seen.
View article: The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice
The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice Open
Transducin β-like 1 X-linked receptor 1 (TBL1XR1) is a WD40 repeat-containing protein and part of the corepressor complex SMRT/NCoR that binds to the thyroid hormone receptor (TR). We recently described a mutation in TBL1XR1 in patients wi…
View article: Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?
Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch? Open
Thyroid hormone (TH) is indispensable for brain development in utero and during the first 2–3 years of life, and the negative effects of TH deficiency on brain development are irreversible. Detection of TH deficiency early in life by neona…
View article: The role of WD40 repeat-containing proteins in endocrine (dys)function
The role of WD40 repeat-containing proteins in endocrine (dys)function Open
WD40 repeat-containing proteins play a key role in many cellular functions including signal transduction, protein degradation, and apoptosis. The WD40 domain is highly conserved, and its typical structure is a β-propeller consisting of 4–8…