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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...

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Autores principales: Karwacki, Marek W., Wysocki, Mariusz, Perek-Polnik, Marta, Jatczak-Gaca, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2019
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.
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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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