Results 41 to 50 of about 1,416 (147)
Skin Research and Technology, Volume 30, Issue 9, September 2024.Abstract Background Cutaneous neurofibromas (cNFs) are a major cause of disfigurement in patients with Neurofibromatosis Type 1 (NF1). However, clinical trials investigating cNF treatments lack standardised outcome measures to objectively evaluate changes in cNF size and appearance.
Jonathan C. L. Lau +12 more
wiley +1 more source
Type 1 Neurofibromatosis and effects on the stomatognatic system [PDF]
, 2018 Neurofibromatosis is a systemic hereditary disorder that mainly affects the skin and nervous system. It was identified for the first time by Friedrich Von Recklinghausen, being called the Von Recklinghausen syndrome.
Cardoso, Inês Lopes, Noronha, Anariely
core +3 more sources
Le gradient entre la pression pulmonaire artérielle diastolique et la pression pulmonaire d'occlusion est important dans l'évaluation des hypertensions pulmonaires post- capillaires [PDF]
, 2012 Les hypertensions pulmonaires post-capillaires sont définies par une pression artérielle moyenne (PAPm) ≥ 25mmHg et une pression pulmonaire d'occlusion (PAPO) > 15mmHg.
Stettler, S.
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Revista Portuguesa de Pneumologia, 2009 O hemotórax espontâneo é uma complicação rara e potencialmente fatal da neurofibromatose. Vários mecanismos patológicos são descritos para a vasculopatia associada à doença: a) invasão dos vasos por tumores adjacentes, como shwannoma, neurofibroma ou ...
Alexandra Bento, Ana Paula Gonçalves
doaj
Journal of Neuroimaging, Volume 34, Issue 1, Page 138-144, January/February 2024.Abstract Background and Purpose Thalamic hypometabolism is a consistent finding in brain PET with F‐18 fluorodeoxyglucose (FDG) in patients with neurofibromatosis type 1 (NF1). However, the pathophysiology of this metabolic alteration is unknown. We hypothesized that it might be secondary to disturbance of peripheral input to the thalamus by NF1 ...
Cansu Özden +10 more
wiley +1 more source
Grande tache pigmentée pileuse révélant une forme familiale de la maladie de Von Recklinghausen [PDF]
, 2016 La neurofibromatose de type 1 (NF1) ou maladie de Von Recklinghausen appartient au groupe de maladies appelées phacomatoses. C'est une affection autosomique dominante relativement rare.
Amrani, R +4 more
core +2 more sources
Wachstumsstörungen als Leitsymptom [PDF]
, 2018 Zusammenfassung: Kleinwuchs als Leitsymptom stellt eine häufige Fragestellung sowohl in der humangenetischen als auch in der pädiatrischen Sprechstunde dar. Definiert ist Kleinwuchs als eine Körperhöhe unter der 3.Perzentile der Norm bzw.
Rauch, A., Thiel, C.
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Sclérose tubéreuse de Bourneville, recensement cantonal [PDF]
, 2015 Contexte : La sclérose tubéreuse de Bourneville (STB) est une maladie génétique dont la majorité des cas est dûe à des mutations de novo. Son incidence est approximativement de 1/6'000 nouveau-nés.
NICOD, O.
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Portuguese study of familial dilated cardiomyopathy: the FATIMA study [PDF]
, 2008 Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular dilatation and impaired systolic function, that in more than 30% of cases has a familial or genetic origin. Given its age-dependent penetrance, DCM frequently manifests in
Abreu-Lima, C. +12 more
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Symptomatic tumors in neurofibromatosis type 1:A diagnostic challenge [PDF]
, 2023 Neurofibromatosis type 1 (NF1) is a hereditary, progressive and unpredictable disease, which can involve many organs. Benign and malignant tumors arise due to unrestrained cell division and cell growth.
Broen, Martijn P.G. +5 more
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