Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Nitash Zwaveling"'
Autor:
Mark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, Peter Lauffer, Merijn W. Bijlsma, Hedi L. Claahsen-van der Grinten, Nicole de Leeuw, Martijn J.J. Finken, Joost Rotteveel, Nitash Zwaveling-Soonawala, Max Nieuwdorp, A.S. Paul van Trotsenburg, Christiaan F. Mooij
Publikováno v:
JCRPE, Vol 16, Iss 1, Pp 95-101 (2024)
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 no
Externí odkaz:
https://doaj.org/article/6da2ce501da6495ab743ea29f1a57ab9
Autor:
Heleen I Jansen, Marije van Haeringen, Marelle J Bouva, Wendy P J den Elzen, Eveline Bruinstroop, Catharina P B van der Ploeg, A S Paul van Trotsenburg, Nitash Zwaveling-Soonawala, Annemieke C Heijboer, Annet M Bosch, Robert de Jonge, Mark Hoogendoorn, Anita Boelen
Publikováno v:
European Thyroid Journal, Vol 12, Iss 6, Pp 1-10 (2023)
Objective: Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by thyroidal (primary CH) or hypothalamic/pituitary (central CH) disturbances. Most CH newborn screening (NBS) programs are thyroid-stimulating-hormo
Externí odkaz:
https://doaj.org/article/f3136411e702473c8b935f5fc33c8927
Autor:
Valérie Anne McLin, Stéphanie Franchi-Abella, Timothée Brütsch, Atessa Bahadori, Valeria Casotti, Jean de Ville de Goyet, Grégoire Dumery, Emmanuel Gonzales, Florent Guérin, Sebastien Hascoet, Nigel Heaton, Béatrice Kuhlmann, Frédéric Lador, Virginie Lambert, Paolo Marra, Aurélie Plessier, Alberto Quaglia, Anne-Laure Rougemont, Laurent Savale, Moinak Sen Sarma, Olivier Sitbon, Riccardo Antonio Superina, Hajime Uchida, Mirjam van Albada, Hubert Petrus Johannes van der Doef, Valérie Vilgrain, Julie Wacker, Nitash Zwaveling, Dominique Debray, Barbara Elisabeth Wildhaber
Publikováno v:
JHEP Reports, Vol 6, Iss 1, Pp 100933- (2024)
Summary: Congenital portosystemic shunts are often associated with systemic complications, the most challenging of which are liver nodules, pulmonary hypertension, endocrine abnormalities, and neurocognitive dysfunction. In the present paper, we offe
Externí odkaz:
https://doaj.org/article/78b59ccf97fc4fb1b0c1890877aad9c0
Publikováno v:
European Thyroid Journal, Vol 12, Iss 4, Pp 1-9 (2023)
Thyroid hormone (TH) is indispensable for brain development in utero and during the first 2–3 years of life, and the negative effects of TH deficiency on brain development are irreversible. Detection of TH deficiency early in life by neonat al scre
Externí odkaz:
https://doaj.org/article/b94d963e152146bebeb1a2d2349c47d9
Autor:
Evelien de Vos-Kerkhof, Dennis R. Buis, Maarten H. Lequin, Carlien A. Bennebroek, Eleonora Aronica, Esther Hulleman, Nitash Zwaveling-Soonawala, Hanneke M. van Santen, Antoinette Y. N. Schouten-van Meeteren
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
We present the case of a 15-year-old girl, with a fifth cystic progression of an adamantinomatous craniopharyngioma after multiple surgeries and previous local radiotherapy. She had severe visual impairment, panhypopituitarism including diabetes insi
Externí odkaz:
https://doaj.org/article/f724c632f26640eaa443f4ab9a56aaef
Autor:
Christiaan F. Mooij, Carline E. Tacke, Mirjam E. van Albada, Winfried Barthlen, Hennie Bikker, Klaus Mohnike, Matthijs W.N. Oomen, A.S. Paul van Trotsenburg, Nitash Zwaveling-Soonawala
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 26, Iss 4, Pp 278-283 (2021)
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 fir
Externí odkaz:
https://doaj.org/article/a521476ff45646919f82ded87da9f3df
Autor:
Peter Lauffer, Nitash Zwaveling-Soonawala, Jolanda C. Naafs, Anita Boelen, A. S. Paul van Trotsenburg
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of central CH is currently estimated at around 1:13,000. Central CH may
Externí odkaz:
https://doaj.org/article/37ca3948e55a4f8f82019d576f74b762
Autor:
Jesse J. van Rooijen, A. S. Paul van Trotsenburg, Daniël J. van de Berg, Nitash Zwaveling-Soonawala, Els J. M. Nieveen van Dijkum, Anton F. Engelsman, Joep P. M. Derikx, Christiaan F. Mooij
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
BackgroundThyroidectomy 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
Externí odkaz:
https://doaj.org/article/a31c218aedee44cea3666e092edb3d6c
Autor:
Alicia F. Juriaans, Gerthe F. Kerkhof, Eva F. Mahabier, Theo C. J. Sas, Nitash Zwaveling-Soonawala, Robbert N. H. Touwslager, Joost Rotteveel, Anita C. S. Hokken-Koelega
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 21, p 6289 (2022)
Background: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics
Externí odkaz:
https://doaj.org/article/4b8c4ff0adac4d209af859affc4c322b
Autor:
Peter Henneman, Arjan Bouman, Adri Mul, Lia Knegt, Anne-Marie van der Kevie-Kersemaekers, Nitash Zwaveling-Soonawala, Hanne E J Meijers-Heijboer, A S Paul van Trotsenburg, Marcel M Mannens
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0194938 (2018)
Down syndrome (DS) is the most frequent genetic cause of intellectual disability. Despite the fact that more than 50 years have passed since the discovery of its genetic aberrations, the exact pathogenesis of the DS phenotype has remained largely une
Externí odkaz:
https://doaj.org/article/71f8f06ba8d14e2f8486496b239d453c