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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004674naa a2200493 4500
001oai:gup.ub.gu.se/313522
003SwePub
008240910s2022 | |||||||||||000 ||eng|
0247 a https://gup.ub.gu.se/publication/3135222 URI
0247 a https://doi.org/10.1016/j.ejmg.2021.1044042 DOI
040 a (SwePub)gu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Edouard, T.4 aut
2451 0a Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey
264 1b Elsevier BV,c 2022
520 a Aim: To date, there is a lack of international guidelines regarding the management of the endocrine features of individuals with Noonan syndrome (NS). The aim was to develop a clinical practice survey to gather information on current treatment and management of these patients across Europe. Materials and methods: A group of 10 experts from three clinical specialities involved in the management of NS patients (clinical geneticists, paediatric endocrinologists, and paediatric cardiologists) developed a 60-question clinical practice survey. The questionnaire was implemented in Survey Monkey and sent to physicians from these three specialities via European/national societies. Contingency tables and the Chi-Squared test for independence were used to examine differences between specialities and countries. Results: In total, responses of 364 specialists (paediatric endocrinologists, 40%; geneticists, 30%; paediatric cardiologists, 30%) from 20 European countries were analysed. While endocrinologists mostly referred to national growth charts for the general population, geneticists mostly referred to NS-specific growth charts. Approximately half of the endocrinologists perform growth hormone (GH) stimulation tests in short patients with low IGF1 levels. Two thirds of endocrinologists begin GH treatment for short patients in early childhood (4–6.9 years), and over half of them selected a threshold of −2 standard deviation score (SDS) according to national growth charts. The main concerns about GH treatment appear to be presence of hypertrophic cardiomyopathy (HCM) (59%), increased risk of malignancy (46%), and limited efficacy (31%). When asked if they consider HCM as a contraindication for GH treatment, one third of respondents skipped this question, and among those who replied, two thirds selected ‘cannot answer’, suggesting a high level of uncertainty. A total of 21 adverse cardiac responses to GH treatment were reported. Although most respondents had not encountered any malignancy during GH treatment, six malignancies were reported. Finally, about half of the endocrinologists expected a typical final height gain of 1–1.5 SDS with GH treatment. Conclusion: This survey describes for the first time the current clinical practice of endocrine aspects of NS across Europe and helps us to identify gaps in the management but also in the knowledge of this genetic disorder. © 2021 The Authors
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a Clinical practice survey
653 a Endocrine
653 a Europe
653 a Growth hormone
653 a Noonan syndrome
653 a RAS/MAPK signalling Pathway
7001 a Zenker, M.4 aut
7001 a Östman-Smith, Ingegerd,d 1947u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xostin
7001 a Ortega Castelló, E.4 aut
7001 a Wolf, C. M.4 aut
7001 a Burkitt-Wright, E.4 aut
7001 a Verloes, A.4 aut
7001 a García-Miñaúr, S.4 aut
7001 a Tartaglia, M.4 aut
7001 a Shaikh, G.4 aut
7001 a Lebl, J.4 aut
7102 a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org
7730 t European Journal of Medical Geneticsd : Elsevier BVg 65:1q 65:1x 1769-7212
8564 u https://doi.org/10.1016/j.ejmg.2021.104404
8564 8u https://gup.ub.gu.se/publication/313522
8564 8u https://doi.org/10.1016/j.ejmg.2021.104404

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