Ullmann U.,Vrije Universiteit Brussel |
Unuane D.,UZ Brussel Hospital |
Velkeniers B.,UZ Brussel Hospital |
Lissens W.,Vrije Universiteit Brussel |
And 2 more authors.
European Journal of Human Genetics | Year: 2012
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant cancer syndrome that is caused by a germline mutation in the MEN1 gene encoding a tumour-suppressor protein, menin. MEN1 causes a combination of endocrine tumours such as parathyroid adenomas, pituitary adenomas, glucagonomas, gastrinomas, insulinomas, adrenocortical adenomas and non-endocrine tumours. We here present a large MEN1 family where the carriers developed mild hyperparathyroidism, multiple well-differentiated functionally active neuroendocrine tumours of the pancreas and no pituitary tumour. The causal mutation is a new double substitution in the coding region of exon 2 in the MEN1 gene c.[428T>A; 429C>T], p.Leu143His. This new mutation in the MEN1 gene is clinically relevant leading to a limited penetrance and specific phenotype.European Journal of Human Genetics advance online publication, 28 November 2012; doi:10.1038/ejhg.2012.241.
Baraka M.A.,Vrije Universiteit Brussel |
Steurbaut S.,Vrije Universiteit Brussel |
Laubach M.,UZ Brussel Hospital |
Coomans D.,Vrije Universiteit Brussel |
Dupont A.G.,Vrije Universiteit Brussel
Journal of Maternal-Fetal and Neonatal Medicine | Year: 2012
Objectives: To investigate the anemia prevalence during pregnancy and the use of and response to iron supplementation in a multi-ethnic population as well as the possible association between anemia and birth outcomes (pregnancy duration, birth weight). Methods: Cross-sectional study conducted in a university hospital (Brussels, Belgium) in 341 women. Hemoglobin, ferritin and iron prescription data were extracted from the patients' electronic dossiers; a questionnaire was used to assess iron intake during pregnancy. Results: Anemia prevalence was higher during the 3rd trimester (24.3%) than in the 1st trimester (6.2%). Arab/Turkish women had a higher prevalence of anemia (9.1%) in the 1st trimester compared to Western women (2.4%; p = 0.044). The frequency of iron prescription was significantly higher among Arab/Turkish (43.7%) compared to Western women (27.9%; p = 0.006). A significantly lower mean birth weight was found among women presenting with anemia in the 1st trimester (3166 g) compared to non anemic women (3442 g; p = 0.036) but no significant difference was detected in mean pregnancy duration between both groups (p = 0.804). Conclusions: Anemia was more prevalent among Arab/Turkish women in spite of receiving more iron prescriptions than Western women. Efficient iron therapy and intensive follow-up are warranted to decrease the anemia prevalence during pregnancy, especially among non-Western women. © 2012 Informa UK, Ltd.