Results 41 to 50 of about 1,567,257 (239)

Clinical Case of Pseudarthrosis of the Tibia in Patient with Neurofibromatosis Type I

Bolʹ, Sustavy, Pozvonočnik, 2014
The article describes the clinical signs of neurofibromatosis type I, in particular its bone manifestations. Also information on current approaches to diagnosis and surgical treatment of patients with neurofibromatosis type I and pseudarthrosis of the ...
Ya.V. Mysliborska
doaj   +1 more source

Clinical case of family neurofibromatosis type I

Лечащий Врач
Background. Neurofibromatosis is a group of orphan diseases with a wide spectrum of clinical presentation, which makes the disease difficult to diagnose. Pigmentation manifestations represent an early clinical sign in children with neurofibromatosis type
O. A. Inozemtsova, A. A. Antonova, T. G. Emelyanova, A. G. Kuznetsova, G. A. Yamanova, P. M. Abdurakhimova, D. R. Ilesheva   +6 more
doaj   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Leukemia and Exposure to Potential Benzene Sources in Children From the Mexico City Metropolitan Area, 2010–2021: A Geospatial Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Leukemia is the most common childhood cancer in Mexico, and acute lymphoblastic leukemia (ALL) is the most frequent subtype. Exposure to high concentrations of benzene has been associated with ALL incidence, particularly in urban areas. This study evaluated the relationship between distance to benzene emission sources and the number
Orlando Rivera Zurita, Norma Candelaria López Santiago, Claudia Maria García Cuellar, Karla Maldonado Silva, Nancy Reynoso Noverón, Leticia Hernández Cadena   +5 more
wiley   +1 more source

Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I

Journal of Neurodevelopmental Disorders, 2020
Background Sensory modulation difficulties are common in children with conditions such as Autism Spectrum Disorder (ASD) and could contribute to other social and non-social symptoms.
J. Begum-Ali, A. Kolesnik-Taylor, Isabel Quiroz, L. Mason, S. Garg, J. Green, Mark H. Johnson, E. Jones   +7 more
semanticscholar   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Pulsatile enophthalmos, severe esotropia, kinked optic nerve and visual loss in neurofibromatosis type-1

Oman Journal of Ophthalmology, 2015
Neurofibromatosis Type I if associated with aplasia of greater wing of sphenoid may be associated with a pulsatile exophthalmos. However, very rarely it may be associated with a pulsatile enophthalmos.
Virender Sachdeva, Nazmul Haque, Avinash Pathengay, Ramesh Kekunnaya   +3 more
doaj   +1 more source

Combined CDK inhibition overcomes MEK inhibitor resistance in plexiform neurofibroma of neurofibromatosis type I.

Journal of Investigative Dermatology, 2021
MEK1/2 inhibitors (MEKi) have recently achieved surprising success in treating unresectable plexiform neurofibromas (PNFs). However, few studies have investigated the mechanisms of MEKi resistance in PNF patients.
W. Wang, Xi-Wei Cui, Yihui Gu, Chengjiang Wei, Yuehua Li, Jieyi Ren, Manhon Chung, Rehanguli Aimaier, Hai-Bing Zhang, Qing-Feng Li, Zhichao Wang   +10 more
semanticscholar   +1 more source

Histopathological Evidence of Neurodegenerative Pathology in Epilepsy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Epilepsy affects > 50 million people worldwide and is associated with a disproportionate burden of cognitive impairment. Emerging evidence suggests that neurodegenerative proteinopathies, particularly hyperphosphorylated tau (p‐tau) and amyloid‐β (Aβ), may contribute to cognitive dysfunction in people with epilepsy (PWE), even in the absence ...
Syeda Amrah Hashmi, Aleksander Luniewski, Vanessa Smith, Matthew McCord, Jaideep Kapur, Mark Quigg, Catherine Joshua, Ifrah Zawar   +7 more
wiley   +1 more source

Microsurgical autologous fibula transfer as an optimal method for closure of extensive bone defects in children with neurofibromatosis

Гений oртопедии, 2023
Introduction Pseudarthrosis and bone defects are the most common consequence of neurofibromatosis type I in children, a rare hereditary disease. Destruction of bone tissue leads to severe deformities and impaired function of the limbs.
Sergey I. Golyana, Tatiana I. Tikhonenko, Natalia S. Galkina, Denis Yu. Grankin   +3 more
doaj   +1 more source