Results 81 to 90 of about 27,651 (232)

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1743-1759, November 2025.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source

Características del neurofibroma plexiforme en pacientes con neurofibromatosis tipo 1. Pinar del Río Characteristics of plexiform neurofibroma in patients suffering from Type-1 Neurofibromatosis. Pinar del Rio

Revista de Ciencias Médicas de Pinar del Río, 2012
El neurofibroma plexiforme es un tumor complejo, que involucra varios tejidos. Llevan a una distorsión masiva del lugar donde se encuentran, originando problemas estéticos y médicos. Con este trabajo se pretende conocer la frecuencia de los neurofibromas
Miladys Orraca Castillo, Deysi Licourt Otero   +1 more
doaj  

An unusual combination of Unilateral Orbital Plexiform Neurofibroma in a patient with oculocutaneous albinism

Indian Journal of Ophthalmology, 2014
A 70-year-old female patient presented with proptosis of right eye for the past 15 days and defective vision in both eyes since birth. She was found to have eccentric painful proptosis of right eye along with features of oculocutaneous albinism ...
J Saravanan, A Rajendraprasad, S Priyadharshni   +2 more
doaj   +1 more source

Doxycycline Prophylaxis in Adolescent Patients Treated With MEK Inhibitors

Pediatric Dermatology, Volume 42, Issue 6, Page 1167-1168, November/December 2025.
ABSTRACT Mitogen‐activated protein kinase inhibitors (MEKi) are used to treat various conditions, including plexiform neurofibromas, brain tumors, and cancers. Our study aimed to determine whether doxycycline prophylaxis could reduce the frequency and/or severity of acneiform eruptions and paronychia, common side effects of MEKi.
Faith Cormier, Irene Lara‐Corrales, Rebecca Levy   +2 more
wiley   +1 more source

Ossifying Subperiosteal Hematoma Caused by a Plexiform Neurofibroma

Journal of the Belgian Society of Radiology, 2020
Teaching Point: Subperiosteal haemorrhage is a rare complication of a plexiform neurofibroma which may mimic a malignant peripheral nerve sheath tumour.
Steven Van den Berge, Hugo Declercq, Steven Pans   +2 more
doaj   +1 more source

Giant Plexiform Neurofibroma of the Perineum and Pelvic Cavity Manifesting as Segmental Neurofibromatosis

Annals of Dermatology, 2019
Segmental neurofibromatosis (SN) is rare form of neurofibromatosis characterized that cutaneous or neural changes are limited to one region of the body.
M. Park, G. Seong, Minkee Park, M. Choi, S. Hong, B. Park, M. Kim   +6 more
semanticscholar   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Increased nuclear translation of YAP might act as a potential therapeutic target for NF1-related plexiform neurofibroma [PDF]

, 2021
Jialiang Liu, Yuanhe You, Zhuowei Tian, Xiao Meng, Jiawei Zheng, Ya-Nan Wang, Zhong Du   +6 more
openalex   +1 more source

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold, Mikko Valtanen, Kari Auranen, Stina Syrjänen, Sirkku Peltonen, Juha Peltonen, Roope A. Kallionpää   +6 more
wiley   +1 more source

Unilateral Creeping Destruction of Deformed Mandibular Ramus and Angle Associated with Extensive Facial Plexiform Neurofibroma in Neurofibromatosis Type 1: A Case Report with Analysis of the Literature for Diagnosing Osteolytic Events of the Mandible in Tumor-suppressor Gene Syndrome

Anticancer Research, 2018
Neurofibromatosis type (NF1) is an autosomal dominant inherited tumor-suppressor gene syndrome of significant phenotypic variability with probable complete penetrance of the disease. Skeletal malformations of the skull belong to the phenotype of NF1.
R. Friedrich, H. Scheuer
semanticscholar   +1 more source