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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Termedia Publishing House
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8425254/ https://www.ncbi.nlm.nih.gov/pubmed/34522251 http://dx.doi.org/10.5114/aoms.2019.85143 |
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author | Karwacki, Marek W. Wysocki, Mariusz Perek-Polnik, Marta Jatczak-Gaca, Agnieszka |
author_facet | Karwacki, Marek W. Wysocki, Mariusz Perek-Polnik, Marta Jatczak-Gaca, Agnieszka |
author_sort | Karwacki, Marek W. |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-8425254 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Termedia Publishing House |
record_format | MEDLINE/PubMed |
spelling | pubmed-84252542021-09-13 Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland Karwacki, Marek W. Wysocki, Mariusz Perek-Polnik, Marta Jatczak-Gaca, Agnieszka Arch Med Sci State of the Art Paper 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. Termedia Publishing House 2019-05-17 /pmc/articles/PMC8425254/ /pubmed/34522251 http://dx.doi.org/10.5114/aoms.2019.85143 Text en Copyright: © 2019 Termedia & Banach https://creativecommons.org/licenses/by-nc-sa/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license. |
spellingShingle | State of the Art Paper Karwacki, Marek W. Wysocki, Mariusz Perek-Polnik, Marta Jatczak-Gaca, Agnieszka Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland |
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 | State of the Art Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8425254/ https://www.ncbi.nlm.nih.gov/pubmed/34522251 http://dx.doi.org/10.5114/aoms.2019.85143 |
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