52 results on '"Mooij CF"'
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2. Stijging van BOPZ-maatregelen en dwangopnames in de ggz
- Author
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Broer, J, Mooij, CF, Quak, J, Mulder, Niels, and Psychiatry
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- 2018
3. The Definition of Recurrence of Differentiated Thyroid Cancer: A Systematic Review of the Literature.
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van de Berg DJ, Rodriguez Schaap PM, Jamaludin FS, van Santen HM, Clement SC, Vriens MR, van Trotsenburg ASP, Mooij CF, Bruinstroop E, Kruijff S, Peeters RP, Verburg FA, Netea-Maier R, Nieveen van Dijkum EJM, Derikx JPM, and Engelsman AF
- Abstract
Background Recurrence is a key outcome to evaluate treatment effect of differentiated thyroid carcinoma (DTC). However, no consistent definition of recurrence is available in current literature or international guidelines. Therefore, the primary aim of this systematic review was to delineate the definitions of recurrence of DTC, categorized by total thyroidectomy with radioactive iodine ablation (RAI), total thyroidectomy without RAI and lobectomy, to assess if there is a generally accepted definition among these categories. Methods This study adhered to 2020 PRISMA statement. In December 2023, systematic literature search in MEDLINE and EMBASE was performed for studies reporting on recurrence of DTC, from January 2018 to December 2023. Studies that did not provide a definition were excluded. Primary outcome was the definition of recurrence of DTC. Secondary outcome whether studies differentiated between recurrence and persistent disease. Two independent investigators screened titles and abstracts, followed by full-text assessment and data extraction. The study protocol was registered in PROSPERO,CRD42021291753. Results In total, 1450 studies were identified. Seventy studies met inclusion criteria, including 69 retrospective studies and one RCT. Median number of patients in included studies was 438 (range 25 - 2297). Seventeen studies (24.3%) reported on lobectomy, four studies (5.7%) on total thyroidectomy without RAI, and 49 studies (70.0%) with RAI. All studies defined recurrence using one or a combination of four diagnostic modalities: cytology/pathology, imaging studies, thyroglobulin(-antibodies), predetermined minimum tumor-free time span. The most common definition of recurrence following lobectomy was cytology/pathology-proven recurrence (47.1% of this subgroup), following total thyroidectomy with RAI was cytology/pathology-proven recurrence and/or anomalies detected on imaging studies (22.4% of this subgroup). No consistent definition was found following total thyroidectomy without RAI. Nine studies (12.9%) differentiated between recurrence and persistent disease. Conclusion Our main finding is that there is no universally accepted definition for recurrence of DTC in the current studies across any of the treatment categories. The findings of this study will provide the basis for a future, international Delphi-based proposal to establish a universally accepted definition of recurrence of DTC. A uniform definition could facilitate global discussion and enhance the assessment of treatment outcomes regarding recurrence of DTC.
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- 2024
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4. Iodinated Contrast Induced Hypothyroidism in the Infant After Enteral Contrast Enema: A Case Report and Systematic Review.
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Pijpers AGH, Zoetelief SE, Eeftinck Schattenkerk LD, de Vries R, Onland W, van Schuppen J, van Trotsenburg ASP, van Heurn LWE, Derikx JPM, Zwaveling-Soonawala N, and Mooij CF
- Abstract
Background: Excessive iodine intake triggers the Wolff-Chaikoff effect resulting in downregulation of thyroid hormone synthesis to prevent hyperthyroidism. Failure to escape the Wolff-Chaikoff effect can be seen especially in (premature born) infants and may result in prolonged iodine induced hypothyroidism. We describe a rare case of a preterm infant who developed severe iodinated contrast induced hypothyroidism after the use and prolonged stasis of enteral iodinated contrast media (ICM). In addition a systematic literature search was performed to evaluate all available data on this complication., Methods: A systematic literature search was performed in PubMed and Embase. Studies describing the effect of enteral ICM on thyroid function were considered eligible. The primary outcome was to determine the frequency of contrast induced hypothyroidism in infants after administration of enteral ICM., Results: The premature infant in our center developed severe iodinated contrast induced hypothyroidism after enteral ICM. In total, only two studies met our eligibility data, reporting eight patients. Out of these eight patients, four premature infants developed a contrast induced hypothyroidism after enteral administration of ICM., Conclusion: Data on severity, length and frequency of contrast induced hypothyroidism after exposure to enteral ICM is very scarce. The herein reported case and literature search illustrate the potential severity of the complication and underline the necessity of future studies on this topic. We recommend standardized monitoring of thyroid function after exposure to enteral ICM in newborns to prevent delayed diagnosis of severe contrast induced hypothyroidism until evidence based recommendations can be made.
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- 2024
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5. Approach to the Patient: Challenging Cases of Pediatric Thyrotoxicosis.
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Mooij CF, Zwaveling-Soonawala N, Hillebrand JJ, and van Trotsenburg ASP
- Abstract
Graves' disease (GD) is the leading cause of hyperthyroidism in children. However, compared to adults GD in children is a rare condition. In a recent guideline issued by the European Thyroid Association the diagnostic evaluation and treatment of pediatric GD is described extensively. In this article we go beyond the guideline and describe the potential challenges of establishing the right etiology of thyrotoxicosis in children, illustrated by cases of thyroid hormone resistance, autonomous functioning thyroid nodules and subacute thyroiditis with a thyrotoxic phase. In addition, we report therapeutic challenges in pediatric GD such as recurrent immunological flare-ups under anti-thyroid drug (ATD) treatment, innovative ways to improve ATD compliance and the role of definitive treatment in persistent complaints of malaise under ATD treatment., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.)
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- 2024
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6. Long-term oncological outcomes of follicular thyroid cancer in adolescents and young adults: A nationwide population-based study.
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van de Berg DJ, Mooij CF, van Trotsenburg ASP, van Santen HM, Terwisscha van Scheltinga SCEJ, Vriens MR, Kruijff S, Nieveen van Dijkum EJM, Engelsman AF, and Derikx JPM
- Abstract
Background: Follicular thyroid carcinoma (FTC) in adolescents and young adults (AYAs) is rare and data on long-term oncological outcomes are scarce. This study aimed to describe the long-term recurrence and survival rates of AYAs with FTC, and identify risk factors for recurrence., Methods: This is a retrospective cohort study combining two national databases, including all patients aged 15-39 years, diagnosed with FTC in The Netherlands between 2000 and 2016. Age, sex, tumor size, focality, positive margins, angioinvasion, pT-stage, and pN-stage were included in a Cox proportional hazard model to identify risk factors for recurrence., Results: We included 192 patients. Median age was 31.0 years (IQR 24.7-36.3) and the male to female ratio was 1:4.1. Most patients presented with a minimally invasive FTC (MI-FTC) (95%). Five patients presented with synchronous metastases (2.6%), including two with locoregional metastases (1%) and three with distant metastases (1.6%). During a median follow-up of 12.0 years, three patients developed a recurrence (1.6%), of which one patient developed a local recurrence (33%), and two patients a distant recurrence (67%). Five patients died during follow-up (2.6%). Cause of death was not captured. A Cox proportional hazard model could not be performed due to the low number of recurrences., Conclusions: FTC in AYAs is generally characterized as a low-risk tumor, as it exhibits a very low recurrence rate, a high overall survival, and it typically presents as MI-FTC without synchronous metastases. These findings underscore the favorable long-term oncological prognosis of FTC in AYAs., (© 2024 The Author(s). World Journal of Surgery published by John Wiley & Sons Ltd on behalf of International Society of Surgery/Société Internationale de Chirurgie (ISS/SIC).)
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- 2024
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7. Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency
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Garrelfs MR, Rinne T, Hillebrand JJ, Lauffer P, Bijlsma MW, Claahsen-van der Grinten HL, de Leeuw N, Finken MJJ, Rotteveel J, Zwaveling-Soonawala N, Nieuwdorp M, van Trotsenburg ASP, and Mooij CF
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- Infant, Newborn, Humans, Aldosterone, Phenotype, Homozygote, Cytochrome P-450 CYP11B2 genetics, Hypoaldosteronism genetics
- Abstract
Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2 , resulting in impaired aldosterone synthesis. We report on a neonate with isolated aldosterone synthase deficiency caused by a novel homozygous CYP11B2 variant Chr8:NM_000498.3:c.400G>A p.(Gly134Arg). The patient presented shortly after birth with severe signs of aldosterone deficiency. Interestingly, segregation analysis revealed that the patient’s asymptomatic father was also homozygous for the CYP11B2 variant. Biochemical evaluation of the father indicated subclinical enzyme impairment, characterized by elevated aldosterone precursors. Apparently, this homozygous variant led to different clinical phenotypes in two affected relatives. In this manuscript we elaborate on the biochemical and genetic work-up performed and describe potential pitfalls in CYP11B2 sequencing due to its homology to CYP11B1., Competing Interests: Conflict of interest: None declared., (©Copyright 2024 by Turkish Society for Pediatric Endocrinology and Diabetes / The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.)
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- 2024
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8. A 15-year-old Girl with a Lateral Neck Mass Turning Out to Be Papillary Thyroid Carcinoma-Lateral Ectopic Papillary Thyroid Carcinoma or Lymph Node Metastasis?
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Kremer MEB, van Trotsenburg ASP, Engelsman AF, Edelenbos E, Farina-Sarasqueta A, van Schuppen J, Koppes JCC, Derikx JPM, and Mooij CF
- Abstract
Lateral neck lesions in children are common and involve various infectious or inflammatory etiologies as well as embryological remnants such as branchial cleft cysts. Although unusual, ectopic thyroid tissue can also present as a lateral neck mass. Here, we present an unusual case of a 15-year-old girl treated for an asymptomatic lateral neck mass that after surgical removal was found to be papillary thyroid carcinoma (PTC). However, after removal of the thyroid gland, no primary thyroid tumor was found. The question arose whether the lateral neck lesion was a lymph node metastasis without identifiable primary tumor (at histological evaluation) or rather malignant degeneration of ectopic thyroid tissue. Total thyroidectomy was performed with postoperative adjuvant radioactive iodine ablation. Even though PTC in a lateral neck mass without a primary thyroid tumor has been described previously, pediatric cases have not been reported. In this report we share our experience on diagnosis, treatment and follow-up, and review the existing literature.
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- 2023
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9. Re: "Exploring the Genetic Link Between Thyroid Dysfunction and Common Psychiatric Disorders: A Specific Hormonal or a General Autoimmune Comorbidity" by Soheili-Nezhad et al.
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Mooij CF and van Trotsenburg ASP
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- Humans, Comorbidity, Mental Disorders epidemiology, Mental Disorders genetics, Thyroid Diseases epidemiology, Thyroid Diseases genetics
- Published
- 2023
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10. Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4 .
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Lauffer P, Naafs JC, Bikker H, Garrelfs MR, Mooij CF, Boelen A, Zwaveling-Soonawala N, and van Trotsenburg ASP
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- Humans, Congenital Hypothyroidism genetics, Insulin Receptor Substrate Proteins genetics, Transducin genetics
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- 2023
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11. Severe early-onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.
- Author
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Vos N, Menke LA, Mooij CF, van den Akker ELT, Alders M, and van Haelst MM
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- Humans, DNA Methylation, GTP-Binding Protein alpha Subunits, Gs genetics, Chromogranins genetics, Syntaxin 16 genetics, Pseudohypoparathyroidism, Pseudohypoparathyroidism diagnosis, Pseudohypoparathyroidism genetics
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- 2023
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12. Pediatric Graves' orbitopathy: a multicentre study.
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Ionescu IC, van Trotsenburg PAS, Paridaens D, Tanck M, Mooij CF, Cagienard E, Kalmann R, Pakdel F, van der Meeren S, and Saeed P
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- Decompression, Surgical adverse effects, Humans, Orbit surgery, Retrospective Studies, Exophthalmos diagnosis, Exophthalmos etiology, Exophthalmos surgery, Graves Ophthalmopathy diagnosis, Graves Ophthalmopathy surgery
- Abstract
Purpose: Graves' orbitopathy (GO) is a rare condition in children often considered to be a less severe condition than at an older age. The aim of our study was to analyse if there are any factors that distinguish paediatric from adult GO in order to provide guidelines for assessing and managing paediatric GO., Methods: Study design is a multicentre retrospective observational case series; 115 paediatric patients diagnosed with GO who visited our university medical centres in the Netherlands and Iran between 2003 and 2019 were submitted for complete ophthalmological examinations, serological testing and/or orbital imaging. Main outcome measures focussed on the natural course and clinical picture as well as medical and surgical treatment in paediatric GO., Results: Clinical findings included proptosis (n = 97; 84.3%), eyelid retraction (n = 77; 67%) and diplopia (n = 13; 11.3%). Ninety-two patients (80%) presented with mild disease, 21 (18.3%) with moderate-severe disease and two (1.7%) with severe GO. Five patients (4.3%) underwent intravenous glucocorticoids and 25 patients underwent orbital decompression surgery. Strabismus surgery due to primary involvement of extraocular muscles was performed in two patients (1.7%). Overall, rehabilitative surgical treatment was planned in 31 patients (26.9%) with inactive disease. Two patients experienced reactivation of the disease., Conclusion: Despite the fact that paediatric and adult GO are considered two separate entities, they might be the same disease with two different clinical phenotypes. Paediatric GO population presents with a comparable clinical picture regarding both soft tissue involvement and proptosis, which may require surgical intervention. Proptosis was present in the majority of paediatric GO patients. Orbital decompression was performed in 21.7% of patients., (© 2021 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.)
- Published
- 2022
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13. Long-Term Oncological Outcomes of Papillary Thyroid Cancer and Follicular Thyroid Cancer in Children: A Nationwide Population-Based Study.
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van de Berg DJ, Kuijpers AMJ, Engelsman AF, Drukker CA, van Santen HM, Terwisscha van Scheltinga SCEJ, van Trotsenburg ASP, Mooij CF, Vriens MR, Nieveen van Dijkum EJM, and Derikx JPM
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- Child, Humans, Retrospective Studies, Thyroid Cancer, Papillary epidemiology, Adenocarcinoma, Follicular diagnosis, Carcinoma, Papillary pathology, Thyroid Neoplasms diagnosis, Thyroid Neoplasms epidemiology, Thyroid Neoplasms therapy
- Abstract
Introduction: Pediatric thyroid carcinoma is a rare malignancy and data on long-term oncological outcomes are sparse. The aim of this study was to describe the long-term oncological outcomes of pediatric papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma (FTC) in a national cohort, and to identify risk factors for recurrence., Methods: We conducted a nationwide, retrospective cohort study, in which we combined two national databases. Patients aged <18 years, diagnosed with PTC or FTC in the Netherlands between 2000 and 2016, were included. pT-stage, pN-stage, multifocality and angioinvasion were included in a Cox-regression analysis for the identification of risk factors for recurrence., Results: 133 patients were included: 110 with PTC and 23 with FTC. Patients with PTC most often presented with pT2 tumors (24%) and pN1b (45%). During a median follow-up of 11.3 years, 21 patients with PTC developed a recurrence (19%). Nineteen recurrences were regional (91%) and 2 were pulmonary (9%). No risk factors for recurrence could be determined. One patient who developed pulmonary recurrence died two years later. Cause of death was not captured. Patients with FTC most often presented with pT2 tumors (57%). One patient presented with pN1b (4%). In 70%, no lymph nodes were collected. None of the patients with FTC developed a recurrence or died., Conclusion: Pediatric PTC and FTC are two distinct diseases. Recurrence in pediatric PTC is common, but in FTC it is not. Survival for both pediatric PTC and FTC is very good., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 van de Berg, Kuijpers, Engelsman, Drukker, van Santen, Terwisscha van Scheltinga, van Trotsenburg, Mooij, Vriens, Nieveen van Dijkum and Derikx.)
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- 2022
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14. Optimizing the Timing of Highest Hydrocortisone Dose in Children and Adolescents With 21-Hydroxylase Deficiency.
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Schröder MAM, van Herwaarden AE, Span PN, van den Akker ELT, Bocca G, Hannema SE, van der Kamp HJ, de Kort SWK, Mooij CF, Schott DA, Straetemans S, van Tellingen V, van der Velden JA, Sweep FCGJ, and Claahsen-van der Grinten HL
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- 17-alpha-Hydroxyprogesterone, Adolescent, Androgens therapeutic use, Child, Child, Preschool, Cross-Over Studies, Female, Humans, Male, Young Adult, Adrenal Hyperplasia, Congenital drug therapy, Hydrocortisone
- Abstract
Context: Hydrocortisone treatment of young patients with 21-hydroxylase deficiency (21OHD) is given thrice daily, but there is debate about the optimal timing of the highest hydrocortisone dose, either mimicking the physiological diurnal rhythm (morning), or optimally suppressing androgen activity (evening)., Objective: We aimed to compare 2 standard hydrocortisone timing strategies, either highest dosage in the morning or evening, with respect to hormonal status throughout the day, nocturnal blood pressure (BP), and sleep and activity scores., Methods: This 6-week crossover study included 39 patients (aged 4-19 years) with 21OHD. Patients were treated for 3 weeks with the highest hydrocortisone dose in the morning, followed by 3 weeks with the highest dose in the evening (n = 21), or vice versa (n = 18). Androstenedione (A4) and 17-hydroxyprogesterone (17OHP) levels were quantified in saliva collected at 5 am; 7 am; 3 pm; and 11 pm during the last 2 days of each treatment period. The main outcome measure was comparison of saliva 17OHP and A4 levels between the 2 treatment strategies., Results: Administration of the highest dose in the evening resulted in significantly lower 17OHP levels at 5 am, whereas the highest dose in the morning resulted in significantly lower 17OHP and A4 levels in the afternoon. The 2 treatment dose regimens were comparable with respect to averaged daily hormone levels, nocturnal BP, and activity and sleep scores., Conclusion: No clear benefit for either treatment schedule was established. Given the variation in individual responses, we recommend individually optimizing dose distribution and monitoring disease control at multiple time points., (© The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society.)
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- 2022
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15. [A girl with a tumor at the base of the tongue].
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Mooij CF, Delemarre LC, and Smets AMBJ
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- Child, Female, Humans, Thyroid Gland, Thyroxine therapeutic use, Ultrasonography, Tongue, Tongue Neoplasms diagnosis
- Abstract
An 8-year-old girl with a lingual thyroid was evaluated because of a tumor at the base of the tongue. Ultrasound showed a hypoechogenic homogeneous parenchymatous structure at the base of the tongue consistent with thyroid tissue. Suboptimal levothyroxine treatment resulted in longstanding TSH stimulation causing a lingual goiter.
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- 2022
16. 2022 European Thyroid Association Guideline for the management of pediatric Graves' disease.
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Mooij CF, Cheetham TD, Verburg FA, Eckstein A, Pearce SH, Léger J, and van Trotsenburg ASP
- Abstract
Hyperthyroidism caused by Graves' disease (GD) is a relatively rare disease in children. Treatment options are the same as in adults - antithyroid drugs (ATD), radioactive iodine (RAI) or thyroid surgery, but the risks and benefits of each modality are different. The European Thyroid Association guideline provides new recommendations for the management of pediatric GD with and without orbitopathy. Clinicians should be alert that GD may present with behavioral changes or declining academic performance in children. Measurement of serum TSH receptor antibodies is recommended for all pediatric patients with hyperthyroidism. Management recommendations include the first-line use of a prolonged course of methimazole/carbimazole ATD treatment (3 years or more), a preference for dose titration instead of block and replace ATD, and to avoid propylthiouracil use. Where definitive treatment is required either total thyroidectomy or RAI is recommended, aiming for complete thyroid ablation with a personalized RAI activity. We recommend avoiding RAI in children under 10 years of age but favor surgery in patients with large goiter. Pediatric endocrinologists should be involved in all cases.
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- 2022
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17. [Involvement of patients in The Compulsory Mental Health-care Act according to health care professionals].
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Haakma I, Mooij CF, Zwart D, van Arkel S, and Castelein S
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- Health Personnel, Humans, Mental Health, Qualitative Research, Mental Disorders therapy, Mental Health Services
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Background: In January 2020 the Compulsory Mental Healthcare Act (Dutch: Wvggz) was implemented. The Wvggz details the rights of patients with mental illness who require compulsory care. The law aims, amongst others, to improve the legal rights of patients and those close to them, for example by enabling the possibility to draw up their own action plan (AP) or care card., Aim: To explore what health care professionals think of the possibilities for involvement by patients and those close to them, enabled by the Wvggz., Method: A qualitative study in which health care professionals were interviewed about the possibilities for involvement by patients and those close to them. We used thematic analysis to study the data from the interviews., Results: Health care professionals were positive about the idea to involve patients and those close to them, though they indicated that patients and those close to them were already involved before the law came into effect. The main difference was that their involvement was more documented, for instance patients can write their own AP or fill out a care card. Health care professionals mentioned that both the AP and the care card offer the possibility for patients and those close to them to express and realize their wishes. On the downside, not all patient groups were able to draw up their own plan of action. Furthermore, according to the health care professionals, both the action plan and care card could give patients the false impression that their wishes can always be acknowledged., Conclusion: Health care professionals mention that patients and those close to them were already involved before the law came into effect. However, the ways in which their involvement is arranged and documented are different.
- Published
- 2022
18. The Effect of Pre-Thyroidectomy Calcitriol Prophylaxis on Post-Thyroidectomy Hypocalcaemia in Children.
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Vendrig LM, Mooij CF, Derikx JPM, Fischer JC, van Trotsenburg ASP, and Zwaveling-Soonawala N
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- Child, Humans, Adolescent, Thyroidectomy adverse effects, Calcitriol therapeutic use, Calcium, Retrospective Studies, Postoperative Complications etiology, Postoperative Complications prevention & control, Parathyroid Hormone, Hypocalcemia etiology, Hypocalcemia prevention & control
- Abstract
Introduction: Transient or persistent hypoparathyroidism is one of the most well-known complications of total thyroidectomy and may lead to symptomatic hypocalcaemia. In children, treatment of post-thyroidectomy hypocalcaemia usually consists of postoperative calcium and/or vitamin D supplementation. In 2013, we implemented prophylactic pre-thyroidectomy calcitriol supplementation for all children undergoing total thyroidectomy at the Amsterdam UMC. The objective of this study was to evaluate the efficacy of this prophylactic calcitriol supplementation in preventing post-thyroidectomy hypocalcaemia in children., Methods: In a retrospective case study, we included all children (age <18 years), who underwent a total or completion thyroidectomy in the Amsterdam UMC, between 2000 and 2020. Patients were divided into two groups, patients with preoperative calcitriol supplementation and those without (controls). Hypocalcaemia was defined as total serum calcium concentration of <2.0 mmol/L. The primary outcome measure was the occurrence of hypocalcaemia in the first 72 h after surgery. Secondary outcome measures were occurrence of symptomatic hypocalcaemia, need for medical intervention within the first 72 h after surgery, and length of hospitalization., Results: A total of 51 patients were included; 26 with calcitriol prophylaxis and 25 controls. There was no significant difference in occurrence of hypocalcaemia (17/26 prophylaxis group; 18/25 control group). Median postoperative calcium concentrations in the first 72 h were significantly higher in the group with prophylaxis at 30-35 h (2.26 vs. 2.01 mmol/L) and 36-41 h (2.17 vs. 1.92 mmol/L). Occurrence of symptomatic hypocalcaemia, need for medical intervention, and length of hospitalization were not significantly different between the groups., Conclusion: Calcitriol prophylaxis resulted in somewhat higher postoperative calcium concentrations but did not reduce the occurrence of hypocalcaemia or affect clinical outcome measures such as occurrence of symptomatic hypocalcaemia and length of postoperative hospitalization., (© 2022 The Author(s). Published by S. Karger AG, Basel.)
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- 2022
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19. Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation.
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Mooij CF, Tacke CE, van Albada ME, Barthlen W, Bikker H, Mohnike K, Oomen MWN, van Trotsenburg ASP, and Zwaveling-Soonawala N
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ABCC8 and KCJN11 mutations cause the most severe diazoxide-resistant forms of congenital hyperinsulinism (CHI). Somatostatin analogues are considered as secondline treatment in diazoxide-unresponsive cases. Current treatment protocols include the first-generation somatostatin analogue octreotide, although pasireotide, a second-generation somatostatin analogue, might be more effective in reducing insulin secretion. Herein we report the first off-label use of pasireotide in a boy with a severe therapy-resistant form of CHI due to a homozygous ABCC8 mutation. After partial pancreatectomy, hyperinsulinism persisted; in an attempt to prevent further surgery, off-label treatment with pasireotide was initiated. Short-acting pasireotide treatment caused high blood glucose level shortly after injection. Long-acting pasireotide treatment resulted in more stable glycemic control. No side effects (e.g., central adrenal insufficiency) were noticed during a 2-month treatment period. Because of recurrent hypoglycemia despite a rather high carbohydrate intake, the boy underwent near-total pancreatectomy at the age of 11 months. In conclusion, pasireotide treatment slightly improved glycemic control without side effects in a boy with severe CHI. However, the effect of pasireotide was not sufficient to prevent near-total pancreatectomy in this case of severe CHI.
- Published
- 2021
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20. A 17-Year-old Boy With Nodular Lesions in the Thyroid and Lymphadenopathy.
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Hoevenaren GAL, Mooij CF, Smets AMJB, van der Kuip M, van Trotsenburg ASP, and Pajkrt D
- Abstract
Competing Interests: The authors have no funding or conflicts of interest to disclose.
- Published
- 2021
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21. Complications After Thyroidectomy in Children: Lymph Node Dissection Is a Risk Factor for Permanent Hypocalcemia.
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van Rooijen JJ, van Trotsenburg ASP, van de Berg DJ, Zwaveling-Soonawala N, Nieveen van Dijkum EJM, Engelsman AF, Derikx JPM, and Mooij CF
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- Adolescent, Child, Child, Preschool, Female, Follow-Up Studies, Humans, Hypocalcemia etiology, Male, Postoperative Complications etiology, Prognosis, Retrospective Studies, Risk Factors, Hypocalcemia pathology, Lymph Node Excision adverse effects, Postoperative Complications pathology, Quality of Life, Thyroid Diseases surgery, Thyroidectomy adverse effects
- Abstract
Background: Thyroidectomy is a treatment option in some benign thyroid disorders and the definitive treatment option for thyroid cancer. As postoperative mortality is extremely rare data on postoperative complications and long-term health consequences are important., Objective: To evaluate the frequencies of short- and long-term complications, and their risk factors in pediatric patients (0-18 years) who underwent a thyroidectomy in a tertiary children's hospital., Methods: A retrospective single center study was performed including all pediatric patients who underwent a thyroidectomy between January 2013 and February 2020., Results: Forty-eight patients were included in this study (mean age 14.6 years). Twenty-nine total thyroidectomies and 19 hemithyroidectomies were conducted. Thyroid carcinoma was the indication to perform a thyroidectomy in 12 patients, 36 patients underwent a thyroidectomy because of a benign thyroid disorder. Postoperative hypocalcemia was evaluated in patients who underwent a total thyroidectomy. Rapidly resolved hypocalcemia was observed in three patients (10.3%), transient hypocalcemia in 10 patients (34.5%) and permanent hypocalcemia in six patients (20.7%). Permanent hypocalcemia was only seen in patients who underwent a thyroidectomy combined with additional lymph node dissection because of thyroid carcinoma [thyroid carcinoma: OR 43.73, 95% CI (2.11-904.95); lymph node dissection: OR 76.14, 95% CI (3.49-458.98)]. Transient and permanent recurrent laryngeal nerve injury was reported in four (8.3%) and one (2.1%) of all patients, respectively., Conclusion: Permanent postoperative complications after thyroidectomy are rare in pediatric patients undergoing a thyroidectomy without lymph node dissection. However, in this age group permanent hypocalcemia occurs more frequently after thyroidectomy with additional lymph node dissection because of thyroid cancer. With respect to quality of life, especially of pediatric thyroid cancer patients, reducing this complication is an important goal., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 van Rooijen, van Trotsenburg, van de Berg, Zwaveling-Soonawala, Nieveen van Dijkum, Engelsman, Derikx and Mooij.)
- Published
- 2021
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22. Methimazole-induced remission rates in pediatric Graves' disease: a systematic review.
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van Lieshout JM, Mooij CF, van Trotsenburg ASP, and Zwaveling-Soonawala N
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- Adolescent, Child, Humans, Remission Induction methods, Treatment Outcome, Antithyroid Agents therapeutic use, Graves Disease diagnosis, Graves Disease drug therapy, Methimazole therapeutic use
- Abstract
Objective: Comparison of studies on remission rates in pediatric Graves' disease is complicated by lack of uniformity in treatment protocols, remission definition, and follow-up duration. We performed a systematic review on remission rates in pediatric Graves' disease and attempted to create uniformity by recalculating remission rates based on an intention-to-treat analysis., Methods: PubMed and Embase were searched in August 2020 for studies on patients with Graves' disease: (i) 2 to 18 years of age, (ii) initially treated with methimazole or carbimazole for at least 18 months, (iii) with a follow-up duration of at least 1 year after cessation of methimazole or carbimazole. All reported remission rates were recalculated using an intention-to-treat analysis., Results: Of 1890 articles, 29 articles consisting of 24 patient cohorts were included with a total of 3057 patients (82.6% female). Methimazole or carbimazole was initially prescribed in 2864 patients (93.7%). Recalculation based on intention-to-treat analysis resulted in an overall remission rate of 28.8% (829/2880). Pooled remission rates based on treatment duration were 23.7, 31.0, 43.7, and 75% respectively after 1.5-2.5 years, 2.5-5 years, 5-6 years (two studies), and 9 years (single study) treatment duration. The occurrence of adverse events was 419 in 2377 patients (17.6%), with major side effects in 25 patients (1.1%)., Conclusions: Using a standardized calculation, the overall remission rate in methimazole-treated pediatric GD is 28.8%. A few small studies indicate that longer treatment increases the remission rate. However, evidence is limited and further research is necessary to investigate the efficacy of longer treatment durations.
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- 2021
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23. The Efficacy and Short- and Long-Term Side Effects of Radioactive Iodine Treatment in Pediatric Graves' Disease: A Systematic Review.
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Lutterman SL, Zwaveling-Soonawala N, Verberne HJ, Verburg FA, van Trotsenburg ASP, and Mooij CF
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Background: Graves's disease (GD) is the most common cause of hyperthyroidism. Maximal 30% of pediatric GD patients achieve remission with antithyroid drugs. The majority of patients therefore require definitive treatment. Both thyroidectomy and radioactive iodine (RAI) are often used as definitive treatment for GD. However, data on efficacy and short- and long-term side effects of RAI treatment for pediatric GD are relatively scarce., Methods: A systematic review of the literature (PubMed and Embase) was performed to identify studies reporting the efficacy or short- and long-term side effects of RAI treatment in pediatric GD., Results: Twenty-three studies evaluating 1,283 children and adolescents treated with RAI for GD were included. The treatment goal of RAI treatment changed over time, from trying to achieve euthyroidism in the past to aiming at complete thyroid destruction and subsequent hypothyroidism in the last 3 decades. The reported efficacy of a first RAI treatment when aiming at hypothyroidism ranged from 42.8 to 97.5%, depending on the activity administered. The efficacy seems to increase with higher RAI activities. When aiming at hypothyroidism, both short- and long-term side effects of treatment are very rare. Long-term side effects were mainly seen in patients in whom treatment aimed at achieving euthyroidism., Conclusion: RAI is a safe definitive treatment option for pediatric GD when aiming at complete thyroid destruction. When aiming at hypothyroidism, the efficacy of treatment seems to increase with a higher RAI activity. Prospective studies are needed to determine the optimal RAI dosing regimen in pediatric GD., Competing Interests: The authors report that they have no conflicts of interest to disclose., (Copyright © 2021 by S. Karger AG, Basel.)
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- 2021
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24. Persisting symptoms in patients with Hashimoto's disease despite normal thyroid hormone levels: Does thyroid autoimmunity play a role? A systematic review.
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Groenewegen KL, Mooij CF, and van Trotsenburg ASP
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Objective: Patients with hypothyroidism due to Hashimoto's disease (HD) may experience persisting symptoms despite normal serum thyroid hormone (TH) levels. Several hypotheses have been postulated to explain these persisting symptoms. We hypothesized that thyroid autoimmunity may play a role., Design: A systematic literature review., Methods: A PubMed search was performed to find studies investigating the relation between the presence of thyroid autoimmunity and (persisting) symptoms. Included studies were critically appraised by the Newcastle - Ottawa Scale (NOS) and then subdivided into (A) disease-based studies, comparing biochemically euthyroid patients with HD, and euthyroid patients with non-autoimmune hypothyroidism or euthyroid benign goitre, and (B) (general) population-based studies. Due to different outcome measures among all studies, meta-analysis of data could not be performed., Results: Thirty out of 1259 articles found in the PubMed search were included in this systematic review. Five out of seven disease-based studies found an association between thyroid autoimmunity and symptoms or lower quality of life (QoL). Sixteen of 23 population-based studies found a comparable positive association. In total, the majority of included studies reported an association between thyroid autoimmunity and persisting symptoms or lower QoL in biochemically euthyroid patients., Conclusion: (Thyroid) autoimmunity seems to be associated with persisting symptoms or lower QoL in biochemically euthyroid HD patients. As outcome measures differed among the included studies, we propose the use of similar outcome measures in future studies. To prove causality, a necessary next step is to design and conduct intervention studies, for example immunomodulation vs. placebo preferably in the form of a randomized controlled trial, with symptoms and QoL as main outcomes., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2021 The Author(s).)
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- 2021
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25. Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report.
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Tacke CE, Terheggen-Lagro SWJ, Boot AM, Plomp AS, Polstra AM, van Rijn RR, Struijs PAA, van den Berg H, and Mooij CF
- Abstract
Parathyroid hormone-like hormone (PTHLH) plays an important role in bone formation. Several skeletal dysplasias have been described that are associated with disruption of PTHLH functioning. Here we report on a new patient with a 898 Kb duplication on chromosome 12p11.22 including the PTHLH gene. The boy has multiple skeletal abnormalities including chondrodysplasia, lesions radiographically resembling enchondromas and posterior rib deformities leading to a severe chest deformity. Severe pulmonary symptoms were thought to be caused by limited mobility and secondary sputum evacuation problems due to the chest deformity. Imaging studies during follow-up revealed progression of the number of skeletal lesions over time. This case extends the phenotypic spectrum associated with copy number variation of PTHLH ., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2021 The Author(s).)
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- 2021
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26. Thyroidectomy in Pediatric Patients with Graves' Disease: A Systematic Review of Postoperative Morbidity.
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Zaat AS, Derikx JPM, Zwaveling-Soonawala N, van Trotsenburg ASP, and Mooij CF
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Background: Graves' disease (GD) is the most common cause of hyperthyroidism. In children, the overall relapse frequency after treatment with antithyroid drugs is high. Therefore, many pediatric GD patients eventually require thyroidectomy as definitive treatment. However, the postoperative complications of thyroidectomy in pediatric GD patients are poorly reported., Objective: To identify the frequency of short- and long-term postoperative morbidities after thyroidectomy in pediatric GD patients., Methods: A systematic review of the literature (PubMed and Embase) was performed to identify studies reporting short- and long-term postoperative morbidities after thyroidectomy in pediatric GD patients according to the PRISMA guidelines., Results: Twenty-two mainly retrospective cohort studies were included in this review evaluating short- and long-term morbidities in 1,424 children and adolescents. The frequency of transient hypocalcemia was 22.2% (269/1,210), with a range of 5.0-50.0%. The frequency of permanent hypocalcemia was 2.5% (36/1,424), with a range of 0-20.0%. Two studies reported high frequencies of permanent hypocalcemia, 20.0 (6/30) and 17.4% (9/52), respectively. The 20% frequency could be explained by low-volume surgeons in poorly controlled GD patients. Only 21 cases of permanent hypocalcemia were reported in the 1,342 patients included in the other 20 studies (1.6%). Transient and permanent recurrent laryngeal nerve injury were reported less frequently, with frequencies between 0-20.0 and 0-7.1%, respectively. Infection, hemorrhage/hematoma, and keloid development were only rarely reported as postoperative complications., Conclusion: The results of this systematic review suggest that thyroidectomy is a safe treatment option for pediatric GD patients. The minority of patients will experience transient and benign morbidities, with hypocalcemia being the most common transient postoperative morbidity. Permanent postoperative morbidities are relatively rare., Competing Interests: The authors report that they have no conflicts of interest to disclose., (Copyright © 2020 by European Thyroid Association Published by S. Karger AG, Basel.)
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- 2021
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27. Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
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Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, and Kemp S
- Abstract
[This corrects the article DOI: 10.3389/fcell.2020.00499.]., (Copyright © 2021 Barendsen, Dijkstra, Visser, Alders, Bliek, Boelen, Bouva, van der Crabben, Elsinghorst, van Gorp, Heijboer, Jansen, Jaspers, van Lenthe, Metgod, Mooij, van der Sluijs, van Trotsenburg, Verschoof-Puite, Vaz, Waterham, Wijburg, Engelen, Dekkers and Kemp.)
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- 2021
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28. Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
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Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, and Kemp S
- Abstract
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 adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD) at an early age. If untreated, cerebral ALD is often fatal. Women with ALD are not at risk for adrenal insufficiency or cerebral ALD. Newborn screening for ALD in males enables prospective monitoring and timely therapeutic intervention, thereby preventing irreparable damage and saving lives. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to add a boys-only screen for ALD to the newborn screening panel. The recommendation made by the Dutch Health Council to only screen boys, without gathering any unsolicited findings, posed a challenge. We were invited to set up a prospective pilot study that became known as the SCAN study (SCreening for ALD in the Netherlands). The objectives of the SCAN study are: (1) designing a boys-only screening algorithm that identifies males with ALD and without unsolicited findings; (2) integrating this algorithm into the structure of the Dutch newborn screening program without harming the current newborn screening; (3) assessing the practical and ethical implications of screening only boys for ALD; and (4) setting up a comprehensive follow-up that is both patient- and parent-friendly. We successfully developed and validated a screening algorithm that can be integrated into the Dutch newborn screening program. The core of this algorithm is the "X-counter." The X-counter determines the number of X chromosomes without assessing the presence of a Y chromosome. The X-counter is integrated as second tier in our 4-tier screening algorithm. Furthermore, we ensured that our screening algorithm does not result in unsolicited findings. Finally, we developed a patient- and parent-friendly, multidisciplinary, centralized follow-up protocol. Our boys-only ALD screening algorithm offers a solution for countries that encounter similar ethical considerations, for ALD as well as for other X-linked diseases. For ALD, this alternative boys-only screening algorithm may result in a more rapid inclusion of ALD in newborn screening programs worldwide., (Copyright © 2020 Barendsen, Dijkstra, Visser, Alders, Bliek, Boelen, Bouva, van der Crabben, Elsinghorst, van Gorp, Heijboer, Jansen, Jaspers, van Lenthe, Metgod, Mooij, van der Sluijs, van Trotsenburg, Verschoof-Puite, Vaz, Waterham, Wijburg, Engelen, Dekkers and Kemp.)
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- 2020
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29. Epidermal inclusion cyst of the thyroid: a rare case of a nodule-like structure at ultrasound.
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Lauffer P, van Schuppen J, and Mooij CF
- Abstract
An epidermal/(epi)dermoid cyst of the thyroid is a rare cause of an intrathyroidal mass. At radiological evaluation, it may initially be misinterpreted as a thyroid adenoma or carcinoma. We present a case report of a 15-year-old boy, who was evaluated because of a neck mass which caused globus pharyngeus and pain at swallowing. Ultrasound examination revealed a hypoechoic nodule-like structure in the left thyroid lobe. Aspiration of the nodule yielded white fluid. Cytological evaluation confirmed the diagnosis of an epidermal inclusion cyst of the thyroid., (© 2020 The Authors. Published by the British Institute of Radiology.)
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- 2020
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30. [The diagnostic evaluation of tall stature in children].
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Lauffer P, Wit JM, Oostdijk W, Mooij CF, Drewes NAJ, and Kamp GA
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- Acromegaly diagnosis, Acromegaly etiology, Adolescent, Body Height, Child, Female, Growth Charts, Growth Disorders etiology, Humans, Klinefelter Syndrome complications, Klinefelter Syndrome diagnosis, Male, Marfan Syndrome complications, Marfan Syndrome diagnosis, Medical History Taking, Netherlands, Puberty, Precocious diagnosis, Puberty, Precocious etiology, Growth Disorders diagnosis, Pediatrics standards, Practice Guidelines as Topic
- Abstract
In this case series, we describe four children and adolescents with tall stature or growth acceleration to illustrate the diagnostic evaluation of tall stature according to the new Paediatric Association of the Netherlands (NVK) Guideline on growth disorders. A 14-year-old girl with tall stature and a relatively late onset of puberty was diagnosed with idiopathic familial tall stature, and the patient decided not to opt for epiphysiodesis. A 14-year-old boy with prepubertal growth acceleration and a history of behavioural problems was diagnosed with Klinefelter syndrome. A 7-year-old boy with tall stature, arachnodactyly, pectus excavatum and lumbar scoliosis was diagnosed with Marfan syndrome. Finally, a 16-year-old girl with isolated progressive tall stature was diagnosed with growth hormone excess caused by a pituitary somatotroph adenoma. The most clinically relevant conditions associated with tall stature are Klinefelter and Marfan syndrome, and secondary growth disorders such as precocious puberty and growth hormone excess.
- Published
- 2020
31. Reforming the male Tanner genital scale.
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Lauffer P, Mooij CF, Zwaveling-Soonawala N, and van Trotsenburg ASP
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- Adolescent, Child, Humans, Male, Genitalia, Male growth & development, Puberty physiology, Sexual Maturation physiology
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- 2020
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32. The Use of the Iodine-Rich Drug Amiodarone in the Rapid Preoperative Preparation for Thyroidectomy because of Persistent Hyperthyroidism.
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Mooij CF, Zwaveling-Soonawala N, Fliers E, and van Trotsenburg ASP
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- 2019
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33. [Continuous increase in community treatment orders and compulsory admissions in the Netherlands, 2003-2017].
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Broer J, Mooij CF, Quak J, and Mulder CL
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- Adult, Community Mental Health Services statistics & numerical data, Emergency Treatment statistics & numerical data, Facilities and Services Utilization, Hospitalization, Hospitals, Psychiatric statistics & numerical data, Humans, Length of Stay statistics & numerical data, Netherlands, Retrospective Studies, Commitment of Mentally Ill statistics & numerical data, Mental Disorders therapy
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Objective: To give a descriptive analysis of court decisions on involuntary admissions and community treatment orders in the Netherlands, and to discuss policy recommendations to contain the use of involuntary care., Design: Retrospective, descriptive research., Method: For this study, data were obtained from the Council for the Judiciary concerning requests for court-ordered admissions to mental hospitals and community treatment orders in the Netherlands. Requests from the period 2003-2017 were included in the analysis., Results: The rate of treated requests for compulsory emergency admissions increased from 43 per 100,000 persons in 2003 to 52 per 100,000 persons in 2017, an increase of 21%. The rate of treated requests for court orders increased from 44 per 100,000 persons in 2003 to 104 per 100,000 persons in 2017 (+138%). In the same period, the rate of treated requests for court-ordered involuntary admissions increased from 44 to 64 per 100,000 (+42%), whereas the rate of treated requests for community treatment orders increased from zero in 2003 to 39 per 100,000 in 2017., Conclusion: In the Netherlands, requests for court-ordered compulsory admissions to mental hospitals and community treatment orders continue to increase. The biggest rise in requests is those for community treatment orders. Better registration of compulsory care is needed.
- Published
- 2018
34. Re: Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia: M. S. Kim, F. Goodarzian, M. F. Keenan, M. E. Geffner, C. M. Koppin, R. E. De Filippo and P. J. Kokorowski J Urol 2017;197:931-936.
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Verhees MJM, Kamphuis-Van Ulzen K, Hermus ARMM, Stikkelbroeck NMML, Mooij CF, and Claahsen-van der Grinten HL
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- Humans, Male, Young Adult, Adrenal Hyperplasia, Congenital, Adrenal Rest Tumor, Testicular Neoplasms
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- 2018
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35. Cardiac function in paediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency.
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Mooij CF, Pourier MS, Weijers G, de Korte CL, Fejzic Z, Claahsen-van der Grinten HL, and Kapusta L
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- Adolescent, Adrenal Hyperplasia, Congenital pathology, Blood Pressure, Case-Control Studies, Child, Dilatation, Pathologic, Echocardiography, Electrocardiography, Female, Heart Ventricles pathology, Humans, Hypertrophy, Left Ventricular, Male, Ventricular Dysfunction, Left, Adrenal Hyperplasia, Congenital physiopathology, Heart Ventricles physiopathology
- Abstract
Background: Hyperandrogenism and exogenous glucocorticoid excess may cause unfavourable changes in the cardiovascular risk profile of patients with congenital adrenal hyperplasia (CAH)., Objective: To evaluate the cardiac function in paediatric patients with CAH., Patients and Methods: Twenty-seven paediatric patients with CAH, aged 8-16 years, were evaluated by physical examination, electrocardiogram (ECG), conventional echocardiography, tissue Doppler imaging and two-dimensional (2D) myocardial strain (rate) imaging. Results were compared to 27 age- and gender- matched healthy controls., Results: No signs of left ventricular hypertrophy or dilatation were detected on echocardiography. ECG revealed a high prevalence (25.9%) of incomplete right bundle branch block. Left ventricular posterior wall thickness in diastole (LVPWd) was significantly lower in patients with CAH compared to controls (5.55 vs 6.53 mm; P = .009). The LVPWd Z-score was significantly lower in patients with CAH yet within the normal range (-1.12 vs -0.35; P = .002). Isovolumetric relaxation time was significantly lower in patients with CAH (49 vs 62 ms; P = .003). Global longitudinal, radial and circumferential strain was not significantly different compared to controls. Global radial strain rate was significantly higher compared to healthy controls (2.58 vs 2.06 1/s; P = .046). Global longitudinal strain was negatively correlated with 24-hour blood pressure parameters., Conclusion: Cardiac evaluation of paediatric patients with CAH showed no signs of left ventricular hypertrophy or ventricular dilatation. LVPWd was lower in patients with CAH than in controls but within the normal range. A shorter isovolumetric relaxation time in patients with CAH may be a sign of mild left ventricular diastolic dysfunction., (© 2017 John Wiley & Sons Ltd.)
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- 2018
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36. Pancytopenia and Hypothyroidism in a Patient With Leukemic Infiltration of the Thyroid as the First Presentation of Acute Lymphoblastic Leukemia.
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Mooij CF, van Alfen-van der Velden JAEM, Netea-Maier RT, Ten Broek R, Gotthardt M, and Hagleitner MM
- Subjects
- Adolescent, Female, Humans, Leukemic Infiltration etiology, Precursor Cell Lymphoblastic Leukemia-Lymphoma complications, Precursor Cell Lymphoblastic Leukemia-Lymphoma pathology, Hypothyroidism etiology, Leukemic Infiltration pathology, Pancytopenia etiology, Precursor Cell Lymphoblastic Leukemia-Lymphoma diagnosis, Thyroid Gland pathology
- Abstract
We report the case of a 16-year-old female patient with hypothyroidism, goiter, and pancytopenia. Biopsy of the thyroid showed leukemic infiltration. After confirmation of the diagnosis of B-lymphoblastic leukemia, treatment was started. Histologic follow-up at day 33 and 79 showed no residual signs of leukemic infiltration. Hypothyroidism persisted despite successful antileukemic treatment. Leukemic infiltration of the thyroid should be considered as a differential diagnosis in patients with hypothyroidism, goiter, and pancytopenia. We suggest that follow-up of thyroid function and histology should be incorporated in the follow-up of rare patients with acute lymphoblastic leukemia with thyroid infiltration.
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- 2018
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37. Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency.
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Mooij CF, van Herwaarden AE, Sweep FCGJ, Roeleveld N, de Korte CL, Kapusta L, and Claahsen-van der Grinten HL
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- Adolescent, Adrenal Hyperplasia, Congenital metabolism, Blood Pressure physiology, Cardiovascular Diseases metabolism, Child, Cross-Sectional Studies, Female, Humans, Male, Overweight metabolism, Risk Factors, Adrenal Hyperplasia, Congenital complications, Body Mass Index, Cardiovascular Diseases etiology, Insulin Resistance physiology, Overweight etiology
- Abstract
Background: The aim of the study was to evaluate the cardiovascular and metabolic risk profile in pediatric patients with congenital adrenal hyperplasia (CAH)., Methods: A cross-sectional study was performed in 27 CAH patients (8-16 years). Blood samples were taken to evaluate circulating cardiovascular risk (CVR) markers. Insulin resistance (IR) was evaluated by homeostatic model assessment (HOMA)-IR. Blood pressure (BP) was evaluated by office BP measurements and 24-h ambulatory BP measurements (24-h ABPM). Dual energy X-ray absorptiometry (DXA) scans were performed in patients >12 years., Results: Body mass index (BMI) standard deviation score (SDS) was elevated (0.67), with seven patients being overweight and four obese. DXA scans showed percentage body fat SDS of 1.59. Office BP levels were higher than reference values. Twenty-four hour ABPM showed systolic hypertension (n=5), while 11 patients had a non-dipping BP profile. HOMA-IR was >75th percentile in 12 patients., Conclusions: CAH patients develop an unfavorable CVR profile already in childhood with increased BMI, increased fat mass, elevated BP levels, a non-dipping BP profile and IR compared to population reference values.
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- 2017
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38. Cardiovascular health, growth and gonadal function in children and adolescents with congenital adrenal hyperplasia.
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Mooij CF, Webb EA, Claahsen van der Grinten HL, and Krone N
- Subjects
- Adolescent, Adrenal Hyperplasia, Congenital drug therapy, Adrenal Rest Tumor etiology, Child, Glucocorticoids adverse effects, Glucocorticoids therapeutic use, Hormone Replacement Therapy adverse effects, Hormone Replacement Therapy methods, Humans, Male, Testicular Neoplasms etiology, Adrenal Hyperplasia, Congenital complications, Cardiovascular Diseases etiology, Gonadal Disorders etiology, Growth Disorders etiology
- Abstract
After the introduction of replacement therapy with glucocorticoids and mineralocorticoids in the 1950s, congenital adrenal hyperplasia (CAH) is no longer a life-limiting condition. However, due to the successful introduction of medical steroid hormone replacement, CAH has become a chronic condition, with associated comorbidities and long-term health implications. The aim of treatment is the replacement of mineralocorticoids and glucocorticoids and the normalisation of elevated androgen concentrations. Long-term consequences of the condition and current treatment regimens include unfavourable changes in the cardiovascular risk profile, impaired growth, testicular adrenal rest tumours (TART) in male and subfertility in both male and female patients with CAH. Optimising replacement therapy in patients with CAH remains challenging. On one hand, treatment with supraphysiological doses of glucocorticoids might be required to normalise androgen concentrations and decrease size or presence of TARTs. On the other hand, treatment with supraphysiological doses of glucocorticoids is associated with an increased prevalence of unfavourable cardiovascular and metabolic risk profiles as well as impaired longitudinal growth and gonadal function. Therefore, treatment of children and adults with CAH requires an individualised approach. Careful monitoring for early signs of complications is already warranted during paediatric healthcare provision to prevent and reduce the impact of comorbidities in later life., Competing Interests: Competing interests: None declared., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)
- Published
- 2017
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39. Disorders of Adrenal Steroidogenesis: Impact on Gonadal Function and Sex Development.
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Mooij CF, van Herwaarden AE, and Claahsen-van der Grinten HL
- Subjects
- Adrenal Glands metabolism, Adrenal Insufficiency metabolism, Disorders of Sex Development metabolism, Gonadal Steroid Hormones biosynthesis, Humans, Adrenal Insufficiency complications, Disorders of Sex Development etiology, Gonads physiology, Sexual Development physiology
- Abstract
A defect in adrenal steroidogenesis may cause a disorder of sex development (DSD). Importantly, DSD of adrenal origin is not restricted to a genital phenotype but is in most cases accompanied by mild to severe impairment in glucocorticoid and/or mineralocorticoid synthesis. If a patient is suspected of DSD of adrenal origin evaluation of glucocorticoid and mineralocorticoid metabolism is therefore essential to provide adequate medical care in the case of a severe and potentially life-threatening insufficiency. The adrenal steroidogenic defects causing DSD, their clinical features and diagnostic work-up are discussed. In this review we provide an overview of defects in the adrenal steroidogenesis and its impact on gonadal function and sex development., (Copyright© of YS Medical Media ltd.)
- Published
- 2016
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40. Fludeoxyglucose positron emission tomography-computed tomography scan showing polyarthritis in a patient with an atypical presentation of Henoch-Schönlein vasculitis without clinical signs of arthritis: a case report.
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Mooij CF, Hermsen R, Hoppenreijs EP, Bleeker-Rovers CP, IJland MM, and de Geus-Oei LF
- Subjects
- Arthritis drug therapy, Arthritis etiology, Child, Preschool, Disease Progression, Fluorodeoxyglucose F18, Glucocorticoids therapeutic use, Humans, IgA Vasculitis complications, IgA Vasculitis drug therapy, Male, Positron Emission Tomography Computed Tomography, Prednisolone therapeutic use, Radiopharmaceuticals, Arthritis diagnostic imaging, IgA Vasculitis diagnostic imaging
- Abstract
Background: Henoch-Schönlein vasculitis is the most common systemic vasculitis in children. Arthritis or arthralgia occurs in 80 % of patients. We believe this to be the first case report to describe the finding of polyarthritis in a fludeoxyglucose positron emission tomography-computed tomography scan in a patient with Henoch-Schönlein vasculitis without clinical signs of arthritis., Case Presentation: A 4.5-year-old Caucasian boy presented with fever of 4 days' duration followed by debilitating migratory arthralgia and inflammation. He underwent a fludeoxyglucose positron emission tomography-computed tomography scan to exclude a possible malignant cause or to detect any infectious or autoimmune focus of his symptoms. Fludeoxyglucose uptake was observed in multiple large joints and in multiple tendons. These findings suggested active polyarthritis and polytendinitis. However, physical and ultrasound evaluations did not show any signs of arthritis in our patient, despite his evident arthralgia., Conclusions: Fludeoxyglucose positron emission tomography-computed tomography might be able to detect inflammatory activity in painful joints that cannot yet be detected clinically or with ultrasound evaluation in a patient with Henoch-Schönlein vasculitis. Therefore, fludeoxyglucose positron emission tomography-computed tomography can be of additional value in the diagnostic workup of patients with an unresolved diagnosis of suspected autoimmune disease, especially in patients with unresolved arthralgia and fever of unknown cause.
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- 2016
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41. Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.
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Mooij CF, Parajes S, Rose IT, Taylor AE, Bayraktaroglu T, Wass JA, Connell JM, Ray DW, Arlt W, and Krone N
- Subjects
- Adult, Female, Humans, Male, Mutation, Young Adult, Adrenal Hyperplasia, Congenital genetics, Steroid 11-beta-Hydroxylase genetics
- Abstract
Objective: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia. Nonclassic or mild 11OHD appears to be a rare condition. Our study assessed the residual CYP11B1 function of detected mutations, adding to the spectrum of mild 11OHD, and illustrates the variability of the clinical presentation of 11OHD., Patients and Methods: Five patients presented with mild to moderate 11OHD. Two women presented with mild hirsutism and in one case with secondary amenorrhoea. Two men presented with precocious pseudopuberty, gynaecomastia and elevated blood pressure. One 46,XX female patient was diagnosed with virilization of the external genitalia 2 years after birth. Direct DNA sequencing was carried out to perform CYP11B1 mutation analysis. The CYP11B1 mutations were functionally characterized using an in vitro expression system., Results: CYP11B1-inactivating mutations were detected in all patients. Two novel missense mutations (p.P42L and p.A297V) and the previously characterized p.R143W mutation had residual CYP11B1 activities between 10% and 27%. A novel p.L382R and the previously uncharacterized p.G444D mutation both caused complete loss of CYP11B1 enzymatic activity., Conclusion: Mutations causing partial impairment of 11β-hydroxylase activity (residual activity of 10% or above) are associated with a less severe clinical presentation of 11OHD, which can be classified as a nonclassic form. Our data demonstrate that patients with nonclassic 11OHD can present with androgen excess, precocious pseudopuberty and increased blood pressure. Timely diagnosis of nonclassic 11OHD and consequently initiation of personalized treatment is essential to prevent co-morbidities caused by androgen excess and hypertension., (© 2015 John Wiley & Sons Ltd.)
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- 2015
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42. Adrenal Steroid Metabolites Accumulating in Congenital Adrenal Hyperplasia Lead to Transactivation of the Glucocorticoid Receptor.
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Pijnenburg-Kleizen KJ, Engels M, Mooij CF, Griffin A, Krone N, Span PN, van Herwaarden AE, Sweep FC, and Claahsen-van der Grinten HL
- Subjects
- 17-alpha-Hydroxyprogesterone chemistry, Active Transport, Cell Nucleus, Androstenedione chemistry, Animals, Binding, Competitive, COS Cells, Chlorocebus aethiops, Cortodoxone chemistry, Glucocorticoids metabolism, Green Fluorescent Proteins metabolism, HEK293 Cells, HeLa Cells, Humans, Microscopy, Fluorescence, Progesterone chemistry, Protein Binding, Transcriptional Activation, Adrenal Glands metabolism, Adrenal Hyperplasia, Congenital metabolism, Receptors, Glucocorticoid metabolism, Steroids metabolism
- Abstract
Patients with congenital adrenal hyperplasia (CAH) are often clinically less severely affected by cortisol deficiency than anticipated from their enzymatic defect. We hypothesize that adrenal steroid hormone precursors that accumulate in untreated or poorly controlled CAH have glucocorticoid activity and partially compensate for cortisol deficiency. We studied the in vitro effects of 17-hydroxyprogesterone (17OHP), progesterone (P), 21-deoxycortisol (21DF), and androstenedione (Δ4) on the human glucocorticoid receptor (hGR). Competitive binding assays were performed in HeLa cells. Nuclear translocation of the hGR was studied by transfection of COS-7 cells with a GFP-tagged hGR and fluorescence microscopy. Transactivation assays were performed in COS-7 cells and in HEK 293 cells after cotransfection with hGR and luciferase reporter vectors using a dual luciferase assay. 17OHP, P, and 21DF are able to bind to the hGR with binding affinities of 24-43% compared with cortisol. Δ4 has a low binding affinity. Incubation with 21DF led to complete nuclear translocation of the hGR, whereas treatment with 17OHP or P resulted in partial nuclear translocation. 21DF transactivated the hGR with an EC50 approximately 6 times the EC50 of cortisol. 17OHP and P transactivated the hGR with EC50s of more than 100 times the EC50 of cortisol. No hGR transactivation was detected after incubation with Δ4. 21DF, 17OHP, and P are able to bind, translocate, and transactivate the hGR in vitro and thus may have glucocorticoid activity. 21DF might have a clinically relevant agonistic effect on the hGR and could potentially partially compensate the cortisol deficiency in CAH patients.
- Published
- 2015
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43. Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia.
- Author
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Mooij CF, Parajes S, Pijnenburg-Kleizen KJ, Arlt W, Krone N, and Claahsen-van der Grinten HL
- Abstract
Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to accumulation of steroid precursors and adrenal androgens. These steroids may have a biological effect on the steroid receptor with clinical consequences on diagnostics and treatment in CAH patients. Therefore, we analysed the effect of accumulated steroids [17-hydroxyprogesterone (17OHP), progesterone, androstenedione and testosterone] on aldosterone-mediated transactivation of the human mineralocorticoid receptor (hMR)., Methods: A transactivation assay using transiently transfected COS7 cells was employed. Cells were co-transfected with hMR-cDNA, MMTV-luciferase and renilla-luciferase expression vectors. Transfected cells were incubated with six different steroid concentrations in addition to aldosterone (10
-10 M). Luciferase and renilla activities were measured to quantify hMR transactivation., Results: Linear regression analysis showed statistically significant linear inhibition of transactivation of the hMR by 10-10 M aldosterone in the presence of increasing 17OHP [F(1,5) = 11.34, p = 0.019] and progesterone [F(1,5) = 11.08, p = 0.021] concentrations. In contrast, neither androstenedione nor testosterone affected hMR transactivation by aldosterone at a concentration of 10-10 M., Conclusion: Our study shows for the first time that neither androstenedione nor testosterone has a biological effect on aldosterone-mediated transactivation of the hMR. 17OHP and progesterone have an anti-mineralocorticoid effect in vitro that may clinically lead to an increased requirement of mineralocorticoids in poorly controlled CAH patients. © 2015 S. Karger AG, Basel.- Published
- 2015
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44. [A neonate with a sacrococcygeal mass].
- Author
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Mooij CF, Haaxma CA, and Scharbatke HE
- Subjects
- Female, Humans, Infant, Newborn, Magnetic Resonance Imaging, Neurologic Examination, Spinal Dysraphism, Teratoma surgery, Sacrococcygeal Region pathology, Teratoma congenital, Teratoma diagnosis
- Abstract
A neonate was born with a sacrococcygeal mass. Initially, spina bifida was suspected. However, neurological examination was unremarkable. An MRI of the neuraxis showed a large cystic presacral lesion without signs of spina bifida. Surgical resection of the lesion was performed. Pathologic evaluation confirmed the diagnosis of a sacrococcygeal teratoma.
- Published
- 2015
45. Is octreotide treatment useful in patients with congenital chylothorax?
- Author
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Horvers M, Mooij CF, and Antonius TA
- Subjects
- Adult, Chylothorax complications, Chylothorax drug therapy, Chylothorax mortality, Contraindications, Female, Gestational Age, Humans, Hypertension, Pulmonary etiology, Infant, Newborn, Male, Maternal Age, Netherlands epidemiology, Pleural Effusion etiology, Pleural Effusion mortality, Pregnancy, Prenatal Diagnosis, Survival Rate, Treatment Outcome, Chylothorax congenital, Gastrointestinal Agents therapeutic use, Octreotide therapeutic use, Pleural Effusion drug therapy
- Abstract
Background: Congenital chylothorax (CC) is a severe congenital disorder characterized by the collection of chyle in the pleural space. Recent case reports suggest that the use of octreotide in the treatment of CC may be useful., Objective: To evaluate the effect of octreotide on pleural effusions in CC., Methods: Hospital records of 7 patients with a CC, who were admitted to the Neonatal Intensive Care Unit of the Radboud University Nijmegen Medical Centre between 2006 and 2010 and were treated with octreotide, were retrospectively evaluated., Results: There was no clear and consistent effect of octreotide treatment on pleural effusions. Pleural effusions eventually decreased in all patients after reaching a dose of 5-6 μg/kg/min, but this could also reflect the natural history of CC. Out of 7 patients, 4 were diagnosed with persistent pulmonary hypertension of the newborn. No other known side effects of octreotide were found. There was a mortality rate of 30%., Conclusions: No clear and consistent effect of octreotide was identified. Pulmonary hypertension was a common problem in this patient group. It is not clear whether or not this was caused or maintained by octreotide treatment. A randomized controlled trial is needed to investigate the safety and usefulness of octreotide. Until then, clinicians should be careful in using octreotide, especially when persistent pulmonary hypertension is present., (Copyright © 2011 S. Karger AG, Basel.)
- Published
- 2012
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46. A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).
- Author
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Parajes S, Kamrath C, Rose IT, Taylor AE, Mooij CF, Dhir V, Grötzinger J, Arlt W, and Krone N
- Subjects
- Child, Preschool, Genotype, Humans, Male, Mutation, Missense, Phenotype, Adrenal Insufficiency genetics, Cholesterol Side-Chain Cleavage Enzyme genetics
- Abstract
Context: Cytochrome P450 side-chain cleavage enzyme (CYP11A1) facilitates the first and rate-limiting step of steroidogenesis. Only nine patients with CYP11A1 deficiency have been described. All patients presented with adrenal insufficiency (AI) and disorder of sex development in 46,XY individuals., Objective: Our objective was to define the pathogenic consequences of a novel CYP11A1 mutation (p.R451W) found in two brothers with isolated adrenal insufficiency., Patients: The two brothers (46,XY) presented with AI and normal male genital development. The older boy first presented with signs and symptoms suggestive of AI at the age of 2.8 yr but was only diagnosed at the age of 4.1 yr during an adrenal crisis. The younger brother was diagnosed with AI at the age of 2.5 yr while being clinically asymptomatic. Both boys had entirely normal appearance of their external genitalia., Results: The novel p.R451W mutation and five published missense CYP11A1 mutations were characterized employing two in vitro approaches using the natural substrate cholesterol and the intermediate 22R-hydroxycholesterol, respectively. Pregnenolone generation was measured by highly specific liquid chromatography tandem mass spectrometry. p.R451W had 30% of wild-type activity consistent with the clinical phenotype in our patients. Two previously published mutations (p.L222P and p.A359V) had 2- to 3-fold higher in vitro activities than originally reported, correlating better with the associated phenotypes., Conclusions: We provide the first evidence that partial CYP11A1 deficiency has to be considered as a differential diagnosis in clinically isolated adrenal insufficiency. Our assays demonstrate a tighter genotype-phenotype correlation in CYP11A1 deficiency than previous in vitro studies.
- Published
- 2011
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47. Adult patients with congenital adrenal hyperplasia have elevated blood pressure but otherwise a normal cardiovascular risk profile.
- Author
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Mooij CF, Kroese JM, Sweep FC, Hermus AR, and Tack CJ
- Subjects
- Adrenal Hyperplasia, Congenital blood, Adrenal Hyperplasia, Congenital urine, Adult, Biomarkers urine, Blood Pressure Monitoring, Ambulatory, Cardiovascular Diseases blood, Cardiovascular Diseases urine, Case-Control Studies, Female, Humans, Insulin metabolism, Lipids blood, Male, Risk Factors, Adrenal Hyperplasia, Congenital physiopathology, Blood Pressure physiology, Cardiovascular Diseases physiopathology
- Abstract
Objective: Treatment with glucocorticoids and mineralocorticoids has changed congenital adrenal hyperplasia (CAH) from a fatal to a chronic lifelong disease. Long-term treatment, in particular the chronic (over-)treatment with glucocorticoids, may have an adverse effect on the cardiovascular risk profile in adult CAH patients. The objective of this study was to evaluate the cardiovascular risk profile of adult CAH patients., Design: Case-control study., Patients and Measurements: In this case-control study the cardiovascular risk profile of 27 adult CAH patients and 27 controls, matched for age, sex and body mass index was evaluated by measuring ambulatory 24-hour blood pressure, insulin sensitivity (HOMA-IR), lipid profiles, albuminuria and circulating cardiovascular risk markers (PAI-1, tPA, uPA, tPA/PAI-1 complex, hsCRP, adiponectin, IL-6, IL-18 and leptin)., Results: 24-Hour systolic (126.3 mmHg±15.5 vs 124.8 mmHg±15.1 in controls, P = 0.019) and diastolic (76.4 mmHg±12.7 vs 73.5 mmHg±12.4 in controls, P<0.001) blood pressure was significantly elevated in CAH patients compared to the control population. CAH patients had higher HDL cholesterol levels (P<0.01), lower hsCRP levels (P = 0.03) and there was a trend toward elevated adiponectin levels compared to controls. Other cardiovascular risk factors were similar in both groups., Conclusion: Adult CAH patients have higher ambulatory blood pressure compared to healthy matched controls. Other cardiovascular risk markers did not differ, while HDL-cholesterol, hsCRP and adiponectin levels tended to be more favorable.
- Published
- 2011
- Full Text
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48. Unfavourable trends in cardiovascular and metabolic risk in paediatric and adult patients with congenital adrenal hyperplasia?
- Author
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Mooij CF, Kroese JM, Claahsen-van der Grinten HL, Tack CJ, and Hermus AR
- Subjects
- Adrenal Hyperplasia, Congenital drug therapy, Adrenal Hyperplasia, Congenital epidemiology, Adrenal Hyperplasia, Congenital pathology, Adult, Cardiovascular Diseases epidemiology, Child, Disease Progression, Glucocorticoids administration & dosage, Glucocorticoids adverse effects, Glucocorticoids therapeutic use, Humans, Long-Term Care, Metabolic Diseases epidemiology, Risk Factors, Time Factors, Adrenal Hyperplasia, Congenital complications, Cardiovascular Diseases etiology, Metabolic Diseases etiology
- Abstract
Context: As a result of the introduction of treatment with glucocorticoids and mineralocorticoids, now 60 years ago, congenital adrenal hyperplasia has become a lifelong chronic disease. Whether long-term treatment of the disease leads to long-term side effects remains unknown. In this respect, especially cardiovascular risk seems to be important., Evidence Synthesis: We reviewed the reported prevalence of conventional cardiovascular risk factors, i.e. obesity, insulin resistance, high blood pressure and dyslipidaemia in patients with congenital adrenal hyperplasia. Overall, the studies suggest a tendency towards an increased body mass index and fat mass, the presence of insulin resistance and hypertension, although data are relatively scarce and obtained in heterogeneous populations., Conclusions: Our findings suggest that adult CAH patients tend to have a cluster of metabolic risk factors, which are consistent with the metabolic syndrome. This notion may have consequences for the care for this group of patients.
- Published
- 2010
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49. [A child with an oesophageal foreign body for 1.5 years].
- Author
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Mooij CF, Zwitserloot AM, Wijnen MH, Damen GM, Marres HA, and Yntema JB
- Subjects
- Child, Preschool, Humans, Male, Time Factors, Treatment Outcome, Esophagus, Foreign Bodies diagnosis, Foreign Bodies surgery
- Abstract
A 2-year-old boy presented with a 1.5-year history of recurrent cough, wheeze and feeding problems. An x-ray of the thorax and an oesophagogram showed constriction of the trachea and proximal portion of the oesophagus. On endoscopy a foreign body was found, embedded in extensive granulation tissue. This could only be removed surgically via oesophagotomy, and turned out to be a plastic toy coin.
- Published
- 2010
50. Blood pressure in the first year of life in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a pilot study.
- Author
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Mooij CF, Kapusta L, Otten BJ, and Claahsen-van der Grinten HL
- Subjects
- 17-alpha-Hydroxyprogesterone blood, Adrenal Hyperplasia, Congenital drug therapy, Alleles, Androstenedione blood, Anti-Inflammatory Agents administration & dosage, Anti-Inflammatory Agents therapeutic use, DNA genetics, DNA Mutational Analysis, Female, Fludrocortisone administration & dosage, Fludrocortisone therapeutic use, Humans, Infant, Infant, Newborn, Male, Pilot Projects, Renin blood, Retrospective Studies, Adrenal Hyperplasia, Congenital enzymology, Adrenal Hyperplasia, Congenital physiopathology, Blood Pressure physiology, Steroid 21-Hydroxylase metabolism
- Abstract
Aims: Evaluation of blood pressure in the first year of life in children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency., Methods: Twenty-four children were included. Retrospective blood pressure values, fludrocortisone dosages, and serum renin, 17-hydroxyprogesterone (17-OHP) and androstenedione levels in the first year of life were evaluated. Blood pressure values were compared to reference values. Correlations between blood pressures and serum renin levels, and the dosage of fludrocortisone were calculated., Results: Mean peak systolic blood pressure values were generally not elevated, most values were around the 50th percentile, except incidentally higher mean peak systolic blood pressure values most below the 95th percentile. No significant correlations between blood pressure and serum renin, androstenedione and 17-OHP levels and fludrocortisone dosage were found., Conclusion: In this pilot study in CAH patients, blood pressure values do not seem to be elevated in the first year of life. Further investigations are necessary to evaluate blood pressure in the first year of life in CAH patients in more detail., (Copyright © 2010 S. Karger AG, Basel.)
- Published
- 2010
- Full Text
- View/download PDF
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