Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2019-05-01
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| Series: | Archives of Medical Science |
| Subjects: | |
| Online Access: | https://www.archivesofmedicalscience.com/Coordinated-medical-care-for-children-with-neurofibromatosis-type-1-and-related-RASopathies,108441,0,2.html |
| _version_ | 1811252761511067648 |
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| author | Marek W. Karwacki Mariusz Wysocki Marta Perek-Polnik Agnieszka Jatczak-Gaca |
| author_facet | Marek W. Karwacki Mariusz Wysocki Marta Perek-Polnik Agnieszka Jatczak-Gaca |
| author_sort | Marek W. Karwacki |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T16:40:31Z |
| format | Article |
| id | doaj.art-744df58249844f699e5b3a411f740f3b |
| institution | Directory Open Access Journal |
| issn | 1734-1922 1896-9151 |
| language | English |
| last_indexed | 2024-04-12T16:40:31Z |
| publishDate | 2019-05-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Archives of Medical Science |
| spelling | doaj.art-744df58249844f699e5b3a411f740f3b2022-12-22T03:24:50ZengTermedia Publishing HouseArchives of Medical Science1734-19221896-91512019-05-011751221123110.5114/aoms.2019.85143108441Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in PolandMarek W. Karwacki0Mariusz Wysocki1Marta Perek-Polnik2Agnieszka Jatczak-Gaca3Coordinated Care Center for Neurofibromatoses and related RASopathies, Department of Pediatrics, Hematology and Oncology, Medical University of Warsaw, PolandDepartment of Paediatrics, Haematology and Oncology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, PolandNeuro-oncology Division, Department of Oncology, The Children’s Memorial Health Institute, Warsaw, PolandDepartment of Paediatrics, Haematology and Oncology, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, PolandCoordinated 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.https://www.archivesofmedicalscience.com/Coordinated-medical-care-for-children-with-neurofibromatosis-type-1-and-related-RASopathies,108441,0,2.htmlneurofibromatosescoordinated medical carenational standard |
| spellingShingle | Marek W. Karwacki Mariusz Wysocki Marta Perek-Polnik Agnieszka Jatczak-Gaca Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland Archives of Medical Science neurofibromatoses coordinated medical care national standard |
| title | Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland |
| title_full | Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland |
| title_fullStr | Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland |
| title_full_unstemmed | Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland |
| title_short | Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland |
| title_sort | coordinated medical care for children with neurofibromatosis type 1 and related rasopathies in poland |
| topic | neurofibromatoses coordinated medical care national standard |
| url | https://www.archivesofmedicalscience.com/Coordinated-medical-care-for-children-with-neurofibromatosis-type-1-and-related-RASopathies,108441,0,2.html |
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