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https://www.um.edu.mt/library/oar/handle/123456789/59518
Title: | Prader-Willi Syndrome : background and management |
Authors: | Abdilla, Ylenia Barbara, Maria Andria Calleja-Agius, Jean |
Keywords: | Prader-Willi syndrome Obesity Endocrine glands -- Diseases Dwarfism, Pituitary |
Issue Date: | 2017 |
Publisher: | Springer Publishing Company |
Citation: | Abdilla, Y., Barbara, M. A., & Calleja-Agius, J. (2017). Prader-Willi Syndrome : background and management. Neonatal Network, 36(3), 134-141. |
Abstract: | The imprinting disorder, Prader-Willi syndrome, is a condition associated with the gene region 15q11.2-q.13. The phenotype includes multiple characteristics, most of which are endocrine-related. An accurate diagnosis is done mostly through pre- or postnatal genetic testing. Management is mainly aimed at correcting the endocrine dysfunctions present in these patients. Genetic testing is also important to distinguish between the different causes and to calculate the recurrence risk for parents with affected children. Although a lot has been discovered and this syndrome can be managed to a satisfactory degree, further research is still important especially regarding new potential treatments with greater efficiency and reduced invasiveness. The neonatal nurse has an important role because the management requires thorough monitoring as well as high compliance from both the patient and the carers. Thus, it is essential for the neonatal nurse to have a good knowledge of this condition. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/59518 |
Appears in Collections: | Scholarly Works - FacM&SAna |
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File | Description | Size | Format | |
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Prader-Willi_syndrome_background_and_management_2017.pdf Restricted Access | 755.32 kB | Adobe PDF | View/Open Request a copy |
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