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12. Spontaneous Haemoperitoneum in Pregnancy

Author

Schreurs, Anneke M.F., Overtoom, Evelien M., de Boer, Marjon A., van der Houwen, Lisette E.E., Lier, Marit C.I., van den Akker, Thomas, Cornette, Jerome, Vogelvang, Tatjana E., Beenakkers, Ingrid C.M., Rosman, Ageeth N, Maas, Jacques W.M., Heineman, David J., Finken, Martijn J.J., de Vries, Jan J.J., Burger, Nicole B., Schaap, Timme P., Bloemenkamp, Kitty W.M., Mijatovic, Velja, Obstetrics & Gynecology, Athena Institute, Network Institute, and APH - Global Health

Subjects
endometriosis, maternal morbidity, obstetric surveillance system, fetal morbidity, SHiP, ART, NethOSS
Abstract

Objective: To evaluate the incidence, diagnostic management strategies and clinical outcomes of women with spontaneous haemoperitoneum in pregnancy (SHiP) and reassess the definition of SHiP. Design: A population-based cohort study using the Netherlands Obstetric Surveillance System (NethOSS). Setting: Nationwide, the Netherlands. Population: All pregnant women between April 2016 and April 2018. Methods: This is a case study of SHiP using the monthly registry reports of NethOSS. Complete anonymised case files were obtained. A newly introduced online Delphi audit system (DAS) was used to evaluate each case, to make recommendations on improving the management of SHiP and to propose a new definition of SHiP. Main outcome measures: Incidence and outcomes, lessons learned about clinical management and the critical appraisal of the current definition of SHiP. Results: In total, 24 cases were reported. After a Delphi procedure, 14 cases were classified as SHiP. The nationwide incidence was 4.9 per 100 000 births. Endometriosis and conceiving after artificial reproductive techniques were identified as risk factors. No maternal and three perinatal deaths occurred. Based on the DAS, adequate imaging of free intra-abdominal fluid, and identifying and treating women with signs of hypovolemic shock could improve the early detection and management of SHiP. A revised definition of SHiP was proposed, excluding the need for surgical or radiological intervention. Conclusions: SHiP is a rare and easily misdiagnosed condition that is associated with high perinatal mortality. To improve care, better awareness among healthcare workers is needed. The DAS is a sufficient tool to audit maternal morbidity and mortality.

Published
2023

14. Spontaneous Haemoperitoneum in Pregnancy:Nationwide Surveillance and Delphi Audit System

Author

Schreurs, Anneke M.F., Overtoom, Evelien M., de Boer, Marjon A., van der Houwen, Lisette E.E., Lier, Marit C.I., van den Akker, Thomas, Cornette, Jerome, Vogelvang, Tatjana E., Beenakkers, Ingrid C.M., Rosman, Ageeth N, Maas, Jacques W.M., Heineman, David J., Finken, Martijn J.J., de Vries, Jan J.J., Burger, Nicole B., Schaap, Timme P., Bloemenkamp, Kitty W.M., Mijatovic, Velja, Schreurs, Anneke M.F., Overtoom, Evelien M., de Boer, Marjon A., van der Houwen, Lisette E.E., Lier, Marit C.I., van den Akker, Thomas, Cornette, Jerome, Vogelvang, Tatjana E., Beenakkers, Ingrid C.M., Rosman, Ageeth N, Maas, Jacques W.M., Heineman, David J., Finken, Martijn J.J., de Vries, Jan J.J., Burger, Nicole B., Schaap, Timme P., Bloemenkamp, Kitty W.M., and Mijatovic, Velja

Abstract

Objective: To evaluate the incidence, diagnostic management strategies and clinical outcomes of women with spontaneous haemoperitoneum in pregnancy (SHiP) and reassess the definition of SHiP. Design: A population-based cohort study using the Netherlands Obstetric Surveillance System (NethOSS). Setting: Nationwide, the Netherlands. Population: All pregnant women between April 2016 and April 2018. Methods: This is a case study of SHiP using the monthly registry reports of NethOSS. Complete anonymised case files were obtained. A newly introduced online Delphi audit system (DAS) was used to evaluate each case, to make recommendations on improving the management of SHiP and to propose a new definition of SHiP. Main outcome measures: Incidence and outcomes, lessons learned about clinical management and the critical appraisal of the current definition of SHiP. Results: In total, 24 cases were reported. After a Delphi procedure, 14 cases were classified as SHiP. The nationwide incidence was 4.9 per 100 000 births. Endometriosis and conceiving after artificial reproductive techniques were identified as risk factors. No maternal and three perinatal deaths occurred. Based on the DAS, adequate imaging of free intra-abdominal fluid, and identifying and treating women with signs of hypovolemic shock could improve the early detection and management of SHiP. A revised definition of SHiP was proposed, excluding the need for surgical or radiological intervention. Conclusions: SHiP is a rare and easily misdiagnosed condition that is associated with high perinatal mortality. To improve care, better awareness among healthcare workers is needed. The DAS is a sufficient tool to audit maternal morbidity and mortality.

Published
2023

17. Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

Author

Garrelfs, Mark R., primary, Rinne, Tuula, additional, Hillebrand, Jacquelien J., additional, Lauffer, Peter, additional, Bijlsma, Merijn W., additional, Claahsen-van Der Grinten, Hedi L., additional, De Leeuw, Nicole, additional, Finken, Martijn J.J., additional, Rotteveel, Joost, additional, Zwaveling-soonawala, Nitash, additional, Nieuwdorp, Max, additional, Paul vanTrotsenburg, A.S., additional, and Mooij, Christiaan F., additional

Published
2022
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19. Low-Protein Infant Formula and Obesity Risk

Author

Kouwenhoven, Stefanie M.P., Muts, Jacqueline, Finken, Martijn J.J., van Goudoever, Johannes B., Kouwenhoven, Stefanie M.P., Muts, Jacqueline, Finken, Martijn J.J., and van Goudoever, Johannes B.

Abstract

Infant formulas have been designed to mimic human milk for infants who cannot be breastfed. The overall goal is to establish similar functional outcomes to assure optimal growth, de-velopment, maturation of the immune system, and programming of the metabolic system. However, after decades of improving infant formula, growth patterns and body composition development are still different in formula-fed infants compared to breastfed infants, which could contribute to an increased risk of obesity among formula-fed infants. It has been hypothesized that the lower protein concentration of breast milk compared to infant formula influences infants’ growth and body composition. Thus, several trials in formula-fed infants with different protein intake levels have been performed to test this hypothesis. In this review, we discuss the current evidence on low-protein infant formula and obesity risk, including future perspectives and implications.

Published
2022

20. Heritability of Urinary Amines, Organic Acids, and Steroid Hormones in Children

Author

Hagenbeek, Fiona A., primary, van Dongen, Jenny, additional, Pool, René, additional, Harms, Amy C., additional, Roetman, Peter J., additional, Fanos, Vassilios, additional, van Keulen, Britt J., additional, Walker, Brian R., additional, Karu, Naama, additional, Hulshoff Pol, Hilleke E., additional, Rotteveel, Joost, additional, Finken, Martijn J.J., additional, Vermeiren, Robert R. J. M., additional, Kluft, Cornelis, additional, Bartels, Meike, additional, Hankemeier, Thomas, additional, and Boomsma, Dorret I., additional

Published
2022
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21. A modified low-protein infant formula supports adequate growth in healthy, term infants: a randomized, double-blind, equivalence trial

Author

Kouwenhoven, Stefanie M.P., Antl, Nadja, Finken, Martijn J.J., Twisk, Jos W.R., Van Der Beek, Eline M., Abrahamse-Berkeveld, Marieke, Van De Heijning, Bert J.M., Schierbeek, Henk, Holdt, Lesca M., Van Goudoever, Johannes B., Koletzko, Berthold V., Pediatric surgery, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), AGEM - Endocrinology, metabolism and nutrition, APH - Methodology, APH - Health Behaviors & Chronic Diseases, Epidemiology and Data Science, General Paediatrics, Neonatology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, Center for Liver, Digestive and Metabolic Diseases (CLDM), and Reproductive Origins of Adult Health and Disease (ROAHD)

Subjects
Male, Calorie, Low protein, 030309 nutrition & dietetics, Medicine (miscellaneous), Child Development, 0302 clinical medicine, 030212 general & internal medicine, Infant Nutritional Physiological Phenomena, Essential amino acid, 2. Zero hunger, chemistry.chemical_classification, 0303 health sciences, Nutrition and Dietetics, infants, Infant Formula, WEIGHT-GAIN, 3. Good health, FAT MASS, Equivalence Trial, Female, Dietary Proteins, medicine.symptom, 1ST MONTH, safety, protein quality, growth, REQUIREMENT, CLINICAL-VARIABLES, 03 medical and health sciences, AGE, Animal science, Double-Blind Method, medicine, Humans, Infant Health, protein quantity, HUMAN-MILK, body composition, amino acids, infant nutrition, business.industry, Infant, Newborn, Infant, Anthropometry, protein intake, LIFE, chemistry, Infant formula, CHILDHOOD-OBESITY, FOLLOW-UP, business, Weight gain, Breast feeding
Abstract

Background: A high protein intake in early life is associated with a risk of obesity later in life. The essential amino acid requirements of formula-fed infants have been reassessed recently, enabling a reduction in total protein content and thus in protein intake. Objectives: We aimed to assess the safety of an infant formula with a modified amino acid profile and a modified low-protein (mLP) content in healthy term-born infants. Outcomes were compared with a specifically designed control (CTRL) infant formula. Methods: In this double-blind, randomized controlled equivalence trial, infants received either mLP (1.7 g protein/100 kcal; n = 90) or CTRL formula (2.1 g protein/100 kcal; n = 88) from enrollment (age ≤ 45 d) to 6 mo of age. A breastfed group served as a reference (n = 67). Anthropometry and body composition were determined at baseline, 17 wk (including safety blood parameters), and 6 mo of age. The primary outcome was daily weight gain from enrollment up until the age of 17 wk (at an equivalence margin of ±3.0 g/d). Results: Weight gain from baseline (mean ± SD age: 31 ± 9 d) up to the age of 17 wk was equivalent between the mLP and CTRL formula groups (27.9 and 28.8 g/d, respectively; difference:-0.86 g/d; 90% CI:-2.36, 0.63 g/d). No differences in other growth parameters, body composition, or in adverse events were observed. Urea was significantly lower in the mLP formula group than in the CTRL formula group (-0.74 mmol/L; 95% CI:-0.97,-0.51 mmol/L; P < 0.001). Growth rates, fat mass, fat-free mass, and several essential amino acids were significantly higher in both formula groups than in the breastfed reference group. Conclusions: Feeding an infant formula with a modified amino acid profile and a lower protein content from an average age of 1 mo until the age of 6 mo is safe and supports an adequate growth, similar to that of infants consuming CTRL formula. This trial was registered at www.trialregister.nl as Trial NL4677.

Published
2020

22. Long-term effects of a modified, low-protein infant formula on growth and body composition: Follow-up of a randomized, double-blind, equivalence trial

Author

Kouwenhoven, Stefanie M.P., primary, Antl, Nadja, additional, Finken, Martijn J.J., additional, Twisk, Jos W.R., additional, van der Beek, Eline M., additional, Abrahamse-Berkeveld, Marieke, additional, van de Heijning, Bert J.M., additional, van Goudoever, Johannes B., additional, and Koletzko, Berthold V., additional

Published
2021
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23. Real world estimates of adrenal insufficiency related adverse events in children with congenital adrenal hyperplasia

Author

Ali, Salma R., Bryce, Jillian, Haghpanahan, Houra, Lewsey, James D., Tan, Li En, Atapattu, Navoda, Birkebaek, Niels H., Blankenstein, Oliver, Neumann, Uta, Balsamo, Antonio, Ortolano, Rita, Bonfig, Walter, Claahsen-van der Grinten, Hedi L., Cools, Martine, Correa Costa, Eduardo, Darendeliler, Feyza, Poyrazoglu, Sukran, Elsedfy, Heba, Finken, Martijn J.J., Fluck, Christa E., Gevers, Evelien, Korbonits, Márta, Guaragna-Filho, Guilherme, Guran, Tulay, Guven, Ayla, Hannema, Sabine E., Higham, Claire, Hughes, Ieuan A., Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Iotova, Violeta, Krone, Nils P., Krone, Ruth, Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice B., Bachega, Tania A.S.S., Miranda, Mirela C., Milenkovic, Tatjana, Mohnike, Klaus, Nordenstrom, Anna, Einaudi, Silvia, van der Kamp, Hetty, Vieites, Ana, Vries, Liat de, Ross, Richard J.M., and Ahmed, S. Faisal

Abstract

Background:\ud Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient or clinician reported sick day episodes (SDE) is less clear.\ud \ud Methods:\ud Data on children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, of which 7 were Low or Middle Income (LMIC) and 11 were High Income (HIC), were collected from the International CAH Registry and analysed to examine the clinical factors associated with SDE and AC.\ud \ud Results:\ud 518 children with a median of 11 children (range 1, 53) per center had 5,388 visits evaluated over a total of 2,300 patient years. The median number of AC and SDE per patient year per center was 0 (0, 3) and 0.4 (0.0, 13.3), respectively. Of the 1,544 SDE, an AC was reported in 62 (4%), with no fatalities. Infectious illness was the most frequent precipitating event, reported in 1,105 (72%) and 29 (47%) of SDE and AC, respectively. On comparing cases from LMIC and HIC, the median SDE per patient year was 0.75 (0, 13.3) vs 0.11 (0, 12.0) (p

Published
2021

24. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia:Data from the I-CAH registry

Author

Bacila, Irina, Freeman, Nicole, Daniel, Eleni, Sandrk, Marija, Bryce, Jillian, Ali, Salma Rashid, Abali, Zehra Yavas, Atapattu, Navoda, Bachega, Tania A., Balsamo, Antonio, Birkebæk, Niels, Blankenstein, Oliver, Bonfig, Walter, Cools, Martine, Costa, Eduardo Correa, Darendeliler, Feyza, Einaudi, Silvia, Elsedfy, Heba Hassan, Finken, Martijn J.J., Gevers, Evelien, Claahsen-Van der Grinten, Hedi L., Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Higham, Claire E., Iotova, Violeta, van der Kamp, Hetty J., Korbonits, Marta, Krone, Ruth E., Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice Bilharinho, Milenkovic, Tatjana, Miranda, Mirela C., Mohnike, Klaus, Neumann, Uta, Ortolano, Rita, Poyrazoglu, Sukran, Thankamony, Ajay, Tomlinson, Jeremy W., Vieites, Ana, de Vries, Liat, Ahmed, S. Faisal, Ross, Richard J., Krone, Nils P., Bacila, Irina, Freeman, Nicole, Daniel, Eleni, Sandrk, Marija, Bryce, Jillian, Ali, Salma Rashid, Abali, Zehra Yavas, Atapattu, Navoda, Bachega, Tania A., Balsamo, Antonio, Birkebæk, Niels, Blankenstein, Oliver, Bonfig, Walter, Cools, Martine, Costa, Eduardo Correa, Darendeliler, Feyza, Einaudi, Silvia, Elsedfy, Heba Hassan, Finken, Martijn J.J., Gevers, Evelien, Claahsen-Van der Grinten, Hedi L., Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Higham, Claire E., Iotova, Violeta, van der Kamp, Hetty J., Korbonits, Marta, Krone, Ruth E., Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice Bilharinho, Milenkovic, Tatjana, Miranda, Mirela C., Mohnike, Klaus, Neumann, Uta, Ortolano, Rita, Poyrazoglu, Sukran, Thankamony, Ajay, Tomlinson, Jeremy W., Vieites, Ana, de Vries, Liat, Ahmed, S. Faisal, Ross, Richard J., and Krone, Nils P.

Abstract

Objective: Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal var iations in the treatment with glucocorticoids and mineralocorticoids in CAH. Design: This retrospective multi-center study, including 31 centers (1 6 countries), analyzed data from the International-CAH Registry. Methods: Data were collected from 461 patients aged 0-18 years with cla ssic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 and 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement were analyzed from 4174 patient visits. Results: The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equival ent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0-14.5) mg/m 2/day at age 1-8 years and the highest dose of 14.0 (11.6- 17.4) mg/m2/day at age 12-18 years. Glucocorticoid doses decreased after 2 010 in patients 0-8 years (P < 0.001) and remained unchanged in patients aged 8-18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countr ies with regards to all aspects of steroid hormone replacement. Conclusions: Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children.

Published
2021

25. The association between maternal stress and glucocorticoid rhythmicity in human milk

Author

Romijn, Michelle, van Tilburg, Luca J.L., Hollanders, Jonneke J., van der Voorn, Bibian, de Goede, Paul, Dolman, Koert M., Heijboer, Annemieke C., Broekman, Birit F.P., Rotteveel, Joost, Finken, Martijn J.J., Romijn, Michelle, van Tilburg, Luca J.L., Hollanders, Jonneke J., van der Voorn, Bibian, de Goede, Paul, Dolman, Koert M., Heijboer, Annemieke C., Broekman, Birit F.P., Rotteveel, Joost, and Finken, Martijn J.J.

Abstract

Background: Chronic stress is often accompanied by alterations in the diurnal rhythm of hypothalamus–pituitary–adrenal activity. However, there are limited data on the diurnal rhythmicity of breast milk glucocorticoids (GCs) among women with psychological distress. We compared mothers who sought consultation at an expertise center for pregnant women with an increased risk of psychological distress with control mothers for GC diurnal rhythmicity in milk and saliva obtained at the same time. Methods: We included 19 mothers who sought consultation at the psychiatry–obstetric–pediatric (POP) outpatient clinic and 44 control mothers. One month postpartum, mothers collected on average eight paired milk and saliva samples during a 24 h period. GC levels were measured using liquid chromatography–tandem mass spectrometry. GC rhythmicity parameters were determined with specialized software. Results: For both milk and saliva, no group differences regarding GC rhythms were found. Milk cortisol area under the curve with respect to the ground was lower in the POP group than in the control group (p = 0.02). GC levels in human milk and saliva were highly correlated within each group (p < 0.001). Conclusion: Although there were no differences between groups in GC rhythmicity, the total amount of milk cortisol was lower in the POP group. Long-term follow-up is needed to address the impact of vertical transmission of breast milk GCs.

Published
2021

26. Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study

Author

Endocrinologie patientenzorg, Child Health, Centraal Diagnostisch Laboratorium, Unit Opleiding Dermatologie, Stroek, Kevin, Ruiter, An, Van Der Linde, Annelieke, Ackermans, Mariette, Bouva, Marelle J., Engel, Henk, Jakobs, Bernadette, Kemper, Evelien A., Van Den Akker, Erica L.T., Van Albada, Mirjam E., Bocca, Gianni, Finken, Martijn J.J., Hannema, Sabine E., Mieke Houdijk, E. C.A., Van Der Kamp, Hetty J., Van Tellingen, Vera, Paul Van Trotsenburg, A. S., Zwaveling-Soonawala, Nitash, Bosch, Annet M., De Jonge, Robert, Heijboer, Annemieke C., Claahsen-Van Der Grinten, Hedi L., Boelen, Anita, Endocrinologie patientenzorg, Child Health, Centraal Diagnostisch Laboratorium, Unit Opleiding Dermatologie, Stroek, Kevin, Ruiter, An, Van Der Linde, Annelieke, Ackermans, Mariette, Bouva, Marelle J., Engel, Henk, Jakobs, Bernadette, Kemper, Evelien A., Van Den Akker, Erica L.T., Van Albada, Mirjam E., Bocca, Gianni, Finken, Martijn J.J., Hannema, Sabine E., Mieke Houdijk, E. C.A., Van Der Kamp, Hetty J., Van Tellingen, Vera, Paul Van Trotsenburg, A. S., Zwaveling-Soonawala, Nitash, Bosch, Annet M., De Jonge, Robert, Heijboer, Annemieke C., Claahsen-Van Der Grinten, Hedi L., and Boelen, Anita

Published
2021

27. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: Data from the I-CAH registry

Author

Endocrinologie patientenzorg, Child Health, Bacila, Irina, Freeman, Nicole, Daniel, Eleni, Sandrk, Marija, Bryce, Jillian, Ali, Salma Rashid, Abali, Zehra Yavas, Atapattu, Navoda, Bachega, Tania A., Balsamo, Antonio, Birkebæk, Niels, Blankenstein, Oliver, Bonfig, Walter, Cools, Martine, Costa, Eduardo Correa, Darendeliler, Feyza, Einaudi, Silvia, Elsedfy, Heba Hassan, Finken, Martijn J.J., Gevers, Evelien, Claahsen-Van der Grinten, Hedi L., Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Higham, Claire E., Iotova, Violeta, van der Kamp, Hetty J., Korbonits, Marta, Krone, Ruth E., Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice Bilharinho, Milenkovic, Tatjana, Miranda, Mirela C., Mohnike, Klaus, Neumann, Uta, Ortolano, Rita, Poyrazoglu, Sukran, Thankamony, Ajay, Tomlinson, Jeremy W., Vieites, Ana, de Vries, Liat, Ahmed, S. Faisal, Ross, Richard J., Krone, Nils P., Endocrinologie patientenzorg, Child Health, Bacila, Irina, Freeman, Nicole, Daniel, Eleni, Sandrk, Marija, Bryce, Jillian, Ali, Salma Rashid, Abali, Zehra Yavas, Atapattu, Navoda, Bachega, Tania A., Balsamo, Antonio, Birkebæk, Niels, Blankenstein, Oliver, Bonfig, Walter, Cools, Martine, Costa, Eduardo Correa, Darendeliler, Feyza, Einaudi, Silvia, Elsedfy, Heba Hassan, Finken, Martijn J.J., Gevers, Evelien, Claahsen-Van der Grinten, Hedi L., Guran, Tulay, Güven, Ayla, Hannema, Sabine E., Higham, Claire E., Iotova, Violeta, van der Kamp, Hetty J., Korbonits, Marta, Krone, Ruth E., Lichiardopol, Corina, Luczay, Andrea, Mendonca, Berenice Bilharinho, Milenkovic, Tatjana, Miranda, Mirela C., Mohnike, Klaus, Neumann, Uta, Ortolano, Rita, Poyrazoglu, Sukran, Thankamony, Ajay, Tomlinson, Jeremy W., Vieites, Ana, de Vries, Liat, Ahmed, S. Faisal, Ross, Richard J., and Krone, Nils P.

Published
2021

29. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype:Two unrelated cases and screening of large cohorts

Author

Hjortshøj, Tina D., Sørensen, Anna R., Yusibova, Melodi, Hansen, Bo M., Dunø, Morten, Balslev-Harder, Marie, Grønskov, Karen, van Hagen, Johanna M., Polstra, Abeltje M., Eggermann, Thomas, Finken, Martijn J.J., Tümer, Zeynep, Hjortshøj, Tina D., Sørensen, Anna R., Yusibova, Melodi, Hansen, Bo M., Dunø, Morten, Balslev-Harder, Marie, Grønskov, Karen, van Hagen, Johanna M., Polstra, Abeltje M., Eggermann, Thomas, Finken, Martijn J.J., and Tümer, Zeynep

Abstract

Silver-Russell syndrome (SRS) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly, feeding difficulties and body asymmetry. Recently, upd(20)mat has been identified in few patients with SRS-like features, suggestive of a new imprinting disorder characterized by prenatal and postnatal growth failure. Here, we describe two male patients with upd(20) and feeding difficulties, prenatal and postnatal growth retardation and normal cognitive development. During pregnancy, confined placental mosaicism for trisomy 20 was detected in one of the patients but was not investigated further until identification of upd(20)mat in the neonatal period. To evaluate whether upd(20)mat should be part of the first trier genetic diagnostic in patients with growth retardation, we screened a large cohort of patients (n = 673) referred to our laboratories for SRS-testing without detecting any upd(20). Our results, along with the existing evidence, indicate that upd(20)mat is a very rare cause of growth retardation, but should be followed up when confined placental mosaicism for trisomy 20 mosaicism is observed during pregnancy.

Published
2020

30. Heritability of Cortisol Production and Metabolism Throughout Adolescence A Twin Study

Author

Onderzoeksgroep 1, Brain, van Keulen, Britt J., Dolan, Conor V., Andrew, Ruth, Walker, Brian R., Hulshoff Pol, Hilleke E., Boomsma, Dorret I., Rotteveel, Joost, Finken, Martijn J.J., Onderzoeksgroep 1, Brain, van Keulen, Britt J., Dolan, Conor V., Andrew, Ruth, Walker, Brian R., Hulshoff Pol, Hilleke E., Boomsma, Dorret I., Rotteveel, Joost, and Finken, Martijn J.J.

Published
2020

31. Long-Term Stability of Cortisol Production and Metabolism throughout Adolescence: Longitudinal Twin Study

Author

Onderzoeksgroep 1, Brain, Van Keulen, Britt J., Dolan, Conor V., Andrew, Ruth, Walker, Brian R., Hulshoff Pol, Hilleke E., Boomsma, Dorret I., Rotteveel, Joost, Finken, Martijn J.J., Onderzoeksgroep 1, Brain, Van Keulen, Britt J., Dolan, Conor V., Andrew, Ruth, Walker, Brian R., Hulshoff Pol, Hilleke E., Boomsma, Dorret I., Rotteveel, Joost, and Finken, Martijn J.J.

Published
2020

32. Long-term height gain of prematurely born children with neonatal growth restraint: parallellism with the growth pattern of short children born small for gestational age

Author

Finken, Martijn J.J., Dekker, Friedo W., de Zegher, Francis, and Wit, Jan M.

Subjects
Company growth, Infants (Premature) -- Growth, Infants (Premature) -- Health aspects, Children -- Health aspects
Abstract

It is unknown whether children born very preterm ( OBJECTIVE. Childhood growth and adult height of children with preterm growth restraint were compared to those of very preterm small-for-gestational-age and non-preterm-growth-restraint children. METHODS. Data were drawn from the Project on Preterm and Small-for-Gestational-Age Infants cohort. Preterm growth restraint was considered to have occurred after appropriate-size-for-gestational-age birth and if length and/or weight was below -2 SD score at 3 months postterm. RESULTS. Among 380 very preterm children, 274 experienced no preterm growth restraint and showed near-normal growth, whereas 79 (21%) experienced preterm growth restraint and subsequently displayed a growth pattern similar to that of very preterm small-for-gestational-age children (n = 27). Adult height of these children was -1.1 to -1.2 SD score. Very preterm small-for-gestational-age and preterm-growth-restraint children with a height below -2 SD score at 5 years had an adult height of approximately -2.5 SD score. CONCLUSIONS. Childhood growth and adult height were similar in very preterm small-for-gestational-age and preterm-growth-restraint children. These long-term findings further strengthen the plausibility of extending the small-for-gestational-age indication for growth hormone therapy in such a way that preterm-growth-restraint children are no longer excluded if they have a short stature persisting beyond the age of ~5 years. Key Words follow-up studies, prospective study, neonatal morbidity, premature infants, growth patterns Abbreviations PGR--preterm growth restraint AGA--appropriate size for gestational age SGA-- small for gestational age SDS--SD score GH--growth hormone, THERE IS INCREASING evidence that children who experienced a transient phase of preterm growth restraint (PGR) display a persistent ensemble of sequelae that are independent of whether the PGR occurred [...]

Published
2006

33. Is blood pressure increased 19 years after intrauterine growth restriction and preterm birth? A prospective follow-up study in the Netherlands

Author

Keijzer-Veen, Mandy G., Finken, Martijn J.J., Nauta, Jeroen, Dekker, Friedo W., Hille, Elysee T.M., Frolich, Marijke, Wit, Jan M., and van der Heijden, A.J.

Subjects
Premature labor -- Case studies, Blood pressure -- Case studies, Infants (Premature) -- Case studies, Family and marriage, Health
Abstract

Objective. To determine whether intrauterine growth restriction (IUGR) is a predisposing factor for high blood pressure (BP) in 19-year-olds who were born (very) preterm. Methods. A prospective follow-up study was conducted at age 19 in individuals who born preterm in the Netherlands in 1983. Systolic, diastolic, and mean BP values and plasma renin activity concentration were obtained in 422 young adults who were born with a gestational age (GA) Results. An increased prevalence of hypertension and probably also of prehypertensive stage was found. IUGR, birth weight, GA, and plasma renin activity were not associated with BP. Current weight and BMI were the best predicting factors for systolic BP at the age of 19 years. Conclusions. The prevalence of hypertension is high in individuals who were born preterm when compared with the general population. In the individuals who were born very preterm, no support to the hypothesis that low birth weight is associated with increased BP at young adult age can be given. Pediatrics 2005;116:725-731; adulthood, blood pressure, follow-up studies, intrauterine growth retardation, preterm infants., ABBREVIATIONS. IUGR, intrauterine growth restriction; BP, blood pressure; GA, gestational age; SBP, systolic blood pressure; SDS, SD score; DBP, diastolic blood pressure; PRA, plasma renin activity; MAP, mean arterial pressure; [...]

Published
2005

35. upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts

Author

Hjortshøj, Tina D., primary, Sørensen, Anna R., additional, Yusibova, Melodi, additional, Hansen, Bo M., additional, Dunø, Morten, additional, Balslev‐Harder, Marie, additional, Grønskov, Karen, additional, Hagen, Johanna M., additional, Polstra, Abeltje M., additional, Eggermann, Thomas, additional, Finken, Martijn J.J., additional, and Tümer, Zeynep, additional

Published
2020
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36. Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

Author

Van Der Linde, Annelieke A.A., Schönbeck, Yvonne, Van Der Kamp, Hetty J., Van Den Akker, Erica L.T., Van Albada, Mirjam E., Boelen, Anita, Finken, Martijn J.J., Hannema, Sabine E., Hoorweg-Nijman, Gera, Odink, Roelof J., Schielen, Peter C.J.I., Straetemans, Saartje, Van Trotsenburg, Paul S., Claahsen-Van Der Grinten, Hedi L., Verkerk, Paul H., Van Der Linde, Annelieke A.A., Schönbeck, Yvonne, Van Der Kamp, Hetty J., Van Den Akker, Erica L.T., Van Albada, Mirjam E., Boelen, Anita, Finken, Martijn J.J., Hannema, Sabine E., Hoorweg-Nijman, Gera, Odink, Roelof J., Schielen, Peter C.J.I., Straetemans, Saartje, Van Trotsenburg, Paul S., Claahsen-Van Der Grinten, Hedi L., and Verkerk, Paul H.

Published
2019

37. Long-Term Neurodevelopmental and Functional Outcomes of Infants Born Very Preterm and/or with a Very Low Birth Weight

Author

Hollanders, Jonneke J., Schaefer, N., Pal, S.M. van der, Oosterlaan, Jaap, Rotteveel, J., Finken, Martijn J.J., Kollee, L.A.A., Ens-Dokkum, M.H., Steenbrugge, G.J. van, Hollanders, Jonneke J., Schaefer, N., Pal, S.M. van der, Oosterlaan, Jaap, Rotteveel, J., Finken, Martijn J.J., Kollee, L.A.A., Ens-Dokkum, M.H., and Steenbrugge, G.J. van

Abstract

Contains fulltext : 204772.pdf (publisher's version ) (Open Access)

Published
2019

38. Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome

Author

Donze, Stephany H., Damen, Layla, Alfen-van der Velden, J. van, Bocca, Gianni, Finken, Martijn J.J., Hoorweg-Nijman, Gera J.G., Leeuwen, Mariette van, Hokken-Koelega, Anita C.S., Donze, Stephany H., Damen, Layla, Alfen-van der Velden, J. van, Bocca, Gianni, Finken, Martijn J.J., Hoorweg-Nijman, Gera J.G., Leeuwen, Mariette van, and Hokken-Koelega, Anita C.S.

Abstract

Contains fulltext : 204782.pdf (publisher's version ) (Open Access)

Published
2019

39. Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

Author

Endocrinologie patientenzorg, Child Health, Genetica Sectie Metabole Diagnostiek, Van Der Linde, Annelieke A.A., Schönbeck, Yvonne, Van Der Kamp, Hetty J., Van Den Akker, Erica L.T., Van Albada, Mirjam E., Boelen, Anita, Finken, Martijn J.J., Hannema, Sabine E., Hoorweg-Nijman, Gera, Odink, Roelof J., Schielen, Peter C.J.I., Straetemans, Saartje, Van Trotsenburg, Paul S., Claahsen-Van Der Grinten, Hedi L., Verkerk, Paul H., Endocrinologie patientenzorg, Child Health, Genetica Sectie Metabole Diagnostiek, Van Der Linde, Annelieke A.A., Schönbeck, Yvonne, Van Der Kamp, Hetty J., Van Den Akker, Erica L.T., Van Albada, Mirjam E., Boelen, Anita, Finken, Martijn J.J., Hannema, Sabine E., Hoorweg-Nijman, Gera, Odink, Roelof J., Schielen, Peter C.J.I., Straetemans, Saartje, Van Trotsenburg, Paul S., Claahsen-Van Der Grinten, Hedi L., and Verkerk, Paul H.

Published
2019

40. Associations between prenatal and infancy weight gain and BMI, fat mass, and fat distribution in young adulthood: a prospective cohort study in males and females born very preterm

Author

Euser, Anne M., Finken, Martijn J.J., Keijzer-Veen, Mandy G., Hille, Elysee T.M., Wit, Jan M., and Dekker, Friedo W.

Subjects
Premature birth -- Health aspects, Premature birth -- Research, Weight gain -- Research, Food/cooking/nutrition, Health
Abstract

Background: Increasing evidence indicates that adult body composition is associated with prenatal and infancy weight gain, but the relative importance of different time periods has not been elucidated. Objective: The objective was to study the association between prenatal, early postnatal, and late infancy weight gain and body mass index (BMI), fat mass, and fat distribution in young adulthood. Design: We included 403 men and women aged 19 y from a Dutch national prospective follow-up study who were born at Results: Birth weight SD scores were positively associated with weight, height, BMI SD scores, and fat-free mass at age 19 y but not with fat mass, percentage body fat, or fat distribution. Early postnatal and late infancy weight gain were positively associated with adult height, weight, BMI. waist circumference SD scores, fat mass, fat-free mass, and percentage body fat but not with waist-to-hip ratio SD scores or subscapular-to-triceps ratio. Conclusions: In infants born very preterm, weight gain before 32 wk of gestation is positively associated with adult body size but not with body composition and fat distribution. More early postnatal and. to a lesser extent, late infancy weight gain are associated with higher BMI SD scores and percentage body fat and more abdominal fat at age 19 y. KEY WORDS Birth weight, early postnatal growth, prematurity, body mass index, body composition, fat-free mass, fat distribution, young adulthood, Netherlands

Published
2005

43. The development of hypothalamic obesity in craniopharyngioma patients : A risk factor analysis in a well-defined cohort

Author

van Iersel, Laura, Meijneke, Ruud W.H., Schouten-van Meeteren, Antoinette Y.N., Reneman, Liesbeth, de Win, Maartje M., van Trotsenburg, A. S.Paul, Bisschop, Peter H., Finken, Martijn J.J., Vandertop, W. Peter, van Furth, Wouter R., van Santen, Hanneke M., van Iersel, Laura, Meijneke, Ruud W.H., Schouten-van Meeteren, Antoinette Y.N., Reneman, Liesbeth, de Win, Maartje M., van Trotsenburg, A. S.Paul, Bisschop, Peter H., Finken, Martijn J.J., Vandertop, W. Peter, van Furth, Wouter R., and van Santen, Hanneke M.

Published
2018

44. The development of hypothalamic obesity in craniopharyngioma patients: A risk factor analysis in a well-defined cohort

Author

Endocrinologie patientenzorg, Child Health, Arts-assistenten Kinderen, van Iersel, Laura, Meijneke, Ruud W.H., Schouten-van Meeteren, Antoinette Y.N., Reneman, Liesbeth, de Win, Maartje M., van Trotsenburg, A. S.Paul, Bisschop, Peter H., Finken, Martijn J.J., Vandertop, W. Peter, van Furth, Wouter R., van Santen, Hanneke M., Endocrinologie patientenzorg, Child Health, Arts-assistenten Kinderen, van Iersel, Laura, Meijneke, Ruud W.H., Schouten-van Meeteren, Antoinette Y.N., Reneman, Liesbeth, de Win, Maartje M., van Trotsenburg, A. S.Paul, Bisschop, Peter H., Finken, Martijn J.J., Vandertop, W. Peter, van Furth, Wouter R., and van Santen, Hanneke M.

Published
2018

45. Cortisol in human milk: The good, the bad, or the ugly?

Author

Finken, Martijn J.J., van der Voorn, Bibian, Hollanders, Jonneke J., Dijkstra, Lisette R., Toorop, Alyssa A., Rotteveel, Joost, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), AGEM - Endocrinology, metabolism and nutrition, Other Research, ACS - Diabetes & metabolism, and Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep

Published
2017

50. The development of hypothalamic obesity in craniopharyngioma patients: A risk factor analysis in a well-defined cohort

Author

van Iersel, Laura, primary, Meijneke, Ruud W.H., additional, Schouten-van Meeteren, Antoinette Y.N., additional, Reneman, Liesbeth, additional, de Win, Maartje M., additional, van Trotsenburg, A.S. Paul, additional, Bisschop, Peter H., additional, Finken, Martijn J.J., additional, Vandertop, W. Peter, additional, van Furth, Wouter R., additional, and van Santen, Hanneke M., additional

Published
2018
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