Academic Journal
Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland
| العنوان: | Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland |
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| المؤلفون: | Marek W. Karwacki, Mariusz Wysocki, Marta Perek-Polnik, Agnieszka Jatczak-Gaca |
| المصدر: | Archives of Medical Science, Vol 17, Iss 5, Pp 1221-1231 (2019) |
| بيانات النشر: | Termedia Publishing House, 2019. |
| سنة النشر: | 2019 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | neurofibromatoses, coordinated medical care, national standard, Medicine |
| الوصف: | Coordinated medical care offered in Poland for patients suffering from neurofibromatosis type 1 and related RASopathies combines complex multispecialty consultation with permanent supervision and the patient’s oriented longitudinal care. Neurofibromatosis type 1 is one of the most common single gene disorders in the global population, observed in 1 out of 2500–3000 live births. It is a primary neoplasia disease with 100% penetration of the gene mutation but remarkable age-dependent onset of different disease signs and symptoms, outstanding clinical heterogeneity between patients even in one family and lack of genotype-phenotype correlation, a high rate of spontaneous mutation exceeding 50%, and multiple comorbidities among which increased risk of malignancy is the most important. Medical practice proved that not only patient-oriented complex but also coordinated care provided in centers of competence is indispensable for patients and the families and provides a sense of medical security to them in conjunction with public health costs rationalization. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1734-1922 1896-9151 |
| Relation: | https://www.archivesofmedicalscience.com/Coordinated-medical-care-for-children-with-neurofibromatosis-type-1-and-related-RASopathies,108441,0,2.html; https://doaj.org/toc/1734-1922; https://doaj.org/toc/1896-9151 |
| DOI: | 10.5114/aoms.2019.85143 |
| URL الوصول: | https://doaj.org/article/744df58249844f699e5b3a411f740f3b |
| رقم الانضمام: | edsdoj.744df58249844f699e5b3a411f740f3b |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 17341922 18969151 |
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| DOI: | 10.5114/aoms.2019.85143 |