Results 71 to 80 of about 87,754 (311)

Segmental neurofibromatosis

Indian Journal of Dentistry, 2014
Segmental neurofibromatosis is a rare disorder, characterized by neurofibromas or cafι-au-lait macules limited to one region of the body. Its occurrence on the face is extremely rare and only few cases of segmental neurofibromatosis over the face have been described so far.
Galhotra, Virat, Sheikh, Soheyl, Jindal, Sanjeev, Singla, Anshu   +3 more
openaire   +3 more sources

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, EarlyView.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

Cerebral venous sinus thrombosis manifesting as chronic spontaneous subdural hematoma: case report and review of the literature

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Cerebral venous sinus thrombosis (CVST) is a rare form of stroke that is mainly seen in young women. It is frequently associated with hemorrhagic venous infarction and subarachnoid hemorrhage.
Fares Laouar, Yasser Brahmia, Lotfi Boublata   +2 more
doaj   +1 more source

A case of familial neurofibromatosis in pediatric practice

Alʹmanah Kliničeskoj Mediciny, 2018
The article describes a  clinical case of familial neurofibromatosis. Neurofibromatosis type  1 was diagnosed in a 9-year old patient according to diagnostic criteria by the International Expert Committee on Neurofibromatosis, based on two criteria: 2 or
N. I. Zryachkin, T. N. Buchkova, G. I. Chebotareva, N. B. Styazhkina   +3 more
doaj   +1 more source

Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling. [PDF]

, 2016
Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins ...
Kafka, Anja, Lechpammer, Mirna, Pećina-Šlaus, Nives   +2 more
core   +2 more sources

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

Food Biomacromolecules, EarlyView.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

How do people with neurofibromatosis type 1 (the forgotten victims) live? A grounded theory study

Health Expectations, 2022
Background Neurofibromatosis type I (NF1) is a rare genetic disorder, associated with some physical symptoms including spots and tiny bumps on the skin, and internal organ involvement.
Samira Foji, Eesa Mohammadi, Akram Sanagoo, Leila Jouybari   +3 more
doaj   +1 more source

Urokinase Plasminogen Activator Receptor‐Associated Protein (uPARAP) as a Potential Next Generation Molecular Target for Treatment of Gastrointestinal Stromal Tumors (GIST)

International Journal of Cancer, EarlyView.
A key component of the collagen internalization and lysosomal degradation cellular machinery, uPARAP may contribute to cancer progression. Here, the authors explored the expression of uPARAP in gastrointestinal stromal tumors using well‐annotated clinical patient samples and specimens from cell line‐ and patient‐derived xenografts.
Chao‐Chi Wang, Flavia Paternostro, Agnieszka Wozniak, Lore De Cock, Luna De Sutter, Kimberly Verbeeck, Ulla Vanleeuw, Daniël Gorgels, Che‐Jui Lee, Raf Sciot, Patrick Schöffski   +10 more
wiley   +1 more source

A multicenter study of neurofibromatosis type 1 utilizing deep learning for whole body tumor identification

npj Digital Medicine
Deep-learning models have shown promise in differentiating between benign and malignant lesions. Previous studies have primarily focused on specific anatomical regions, overlooking tumors occurring throughout the body with highly heterogeneous whole-body
Cheng-Jiang Wei, Yan Tang, Yang-Bai Sun, Tie-Long Yang, Cheng Yan, Hui Liu, Jun Liu, Jing-Ning Huang, Ming-Han Wang, Zhen-Wei Yao, Ji-Long Yang, Zhi-Chao Wang, Qing-Feng Li   +12 more
doaj   +1 more source