Results 21 to 30 of about 61,198,315 (136)

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical/ Molecular Diagnosis of NF1

, 2022
Near infrared imaging shows bright patchy choroidal abnormalities (CA), thought to reflect choroidal neurofibromatosis-1 (NF1). This study aimed to determine the prevalence of CA and Lisch Nodules (LN) in children who met clinical diagnostic criteria ...
Mariana Flores Pimentel; Anna Heath; Michael Wan; Kate Leahy; Heather MacDonald; Erika Tavares; Cinthya VandenHoven; Katelyn MacNeill; Peter Kannu; Patricia Parkin; Elise Heon; Arun Reginald; Vincent Ajoy
core   +2 more sources

Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1

Molecular Genetics & Genomic Medicine, 2019
Background Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with equal sex incidence that is characterized by neurofibromas, café‐au‐lait macules, axillary freckling, optic pathway tumor, distinctive osseous lesion, and iris Lisch nodules.
Linlin Chen, Feng Xue, Jia Xu, Jinwei He, Wenzhen Fu, Zhenlin Zhang, Qinglin Kang   +6 more
doaj   +1 more source

DRI Triton SS-OCT applied to detect choroidal nodules in paediatric patients affected by NF1. [PDF]

Heliyon
Purpose: To examine whether image processing of non-mydriatic DRI Triton SS-OCT (Topcon Corporation, Tokyo, Japan) using the red free filter could assess the presence of choroidal nodules and thus include their detection as a diagnostic criterion in ...
Fresno Cañada C, Gispets Parcerisas J, Del Prado Sánchez C, Puigventós Rosanas E, Perez-Jaume S, Salvador H, Llorca Cardeñosa A, Prat Bartomeu J.   +7 more
europepmc   +2 more sources

Interobserver agreement of Thyroid Imaging Reporting and Data System (TIRADS) and strain elastography for the assessment of thyroid nodules [PDF]

, 2013
Background: Thyroid Imaging Reporting and Data System (TIRADS) was developed to improve patient management and cost-effectiveness by avoiding unnecessary fine needle aspiration biopsy (FNAB) in patients with thyroid nodules.
Stefan Zeuzem, Herrmann, Eva, Friedrich-Rust, Mireen, Dauth, Nina, Bogdanou, Dimitra, Christian Berner, Nina Dauth, Mireen Friedrich-Rust, Bojunga, Jörg, Dimitra Bogdanou, Joerg Bojunga, Gesine Meyer, Eva Herrmann, Berner, Christian, Meyer, Gesine, Zeuzem, Stefan   +15 more
core   +2 more sources

Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia [PDF]

, 2023
Neurofibromatosis type 1 (NF1) is one of the central nervous system’s most common autosomal dominant conditions. The diagnosis is based on the clinical diagnostic criteria and/or a molecularly confirmed mutation in the NF1 gene.
Julia Aramburu Clavería, Herrero Latorre, Raquel, Javier Ascaso Puyuelo, Ascaso Puyuelo, Javier, Olivia Esteban Floría, Pérez Rivasés, Guillermo, Gabás, Javier Mateo, Núñez Moscarda, Eva, Guillermo Pérez Rivasés, Torralba Cabeza, Miguel Ángel, Floría, Esteban Olivia, Miguel Ángel Torralba Cabeza, Javier Mateo Gabás, Marta Orejudo de Rivas, Raquel Herrero Latorre, Orejudo de Rivas, Marta, Aramburu Clavería, Julia, Eva Núñez Moscarda   +17 more
core   +1 more source

Unilateral Lisch nodules in a pediatric patient: a sign for genetic mosaicism?

, 2020
we describe a case of Unilateral Lisch nodules in a pediatric patient: a sign for genetic ...
Santangelo A, Madia F, Savasta S, Striano P., Foiadelli T, Peroni D, Ragone MC, Orsini A, Bonuccelli A   +8 more
core   +1 more source

Ferromanganese nodules and micro-hardgrounds associated with the Cadiz Contourite Channel (NE Atlantic): Palaeoenvironmental records of fluid venting and bottom currents [PDF]

, 2012
Ferromanganese nodule fields and hardgrounds have recently been discovered in the Cadiz Contourite Channel in the Gulf of Cadiz (850–1000 m). This channel is part of a large contourite depositional system generated by the Mediterranean Outflow Water ...
Medialdea, Teresa, Torres, Trinidad de, González, Francisco Javier, Ortiz, José E., Medialdea Cela, Teresa, Merinero, Raúl, Torres Pérez-Hidalgo, Trinidad José, León, Ricardo, Somoza, Luis, Merinero Palomares, Raúl, Martinez Frias, Jesus, González Sanz, Francisco Javier, Lunar Hernández, María Del Rosario, Ortiz Menéndez, José Eugenio, León Buendía, Ricardo, Lunar, Rosario, Somoza Losada, Luis   +16 more
core   +1 more source

Selumetinib as a Target Therapy in Progressive Paediatric Low‐Grade Gliomas—Case Series (pLGG)

Journal of Paediatrics and Child Health, Volume 62, Issue 8, Page 1499-1508, August 2026.
ABSTRACT Background Optic pathway gliomas (OPGs) occur in 15%–20% of children with neurofibromatosis type 1 (NF1). While smaller gliomas may be only monitored, the current standard of care for symptomatic ones relies on chemotherapy, most commonly carboplatin and vincristine.
Laura Trapani, Giulia Gortani, Andrea Magnolato, Flora Maria Murru, Elisabetta Cattaruzzi, Laura Diplotti, Paola Michieletto, Silvia Giganti, Davide Zanon, Alessandra Maestro, Valentina Kiren, Egidio Barbi, Irene Bruno   +12 more
wiley   +1 more source

Lisch nodules in Schwannomatosis: a new manifestation [PDF]

, 2020
Schwannomatosis is a syndrome characterized by presence of schwannomas in the absence of bilateral vestibular schwannomas and meningiomas. Schwannomas interest frequently peripheral nerves (90%) and spinal nerves (75%).
Fabiana Mallone, Sandra Giustini, Giovanni Corbo, Antonietta Moramarco, Emanuele Miraglia, Chiara Iacovino   +5 more
core  

Dermoscopy of the iris : identification of Lisch nodulesand contribution to the diagnosis of neurofibromatosis type 1

, 2021
Neurofibromatosis is a common genodermatosis, whose diagnosis often involves theparticipation of a dermatologist. A case of a 38-year-old female patient with four café-au-laitmacules and eleven neurofibromas on clinical examination is presented ...
Milman, Laura de Mattos, Antoniolli, Luciana Pavan, Bonamigo, Renan Rangel   +2 more
core   +1 more source