Results 71 to 80 of about 55,225 (233)

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

open access: yesEpilepsia 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   +14 more
wiley   +1 more source

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

open access: yesFood 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

Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]

open access: yes, 2016
This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
core   +1 more source

Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]

open access: yes, 2018
The neurofibromin-1 tumor suppressor gene (NF1) is altered in approximately 20% of sporadic glioblastoma (GBM) cases. NF1 deficient GBM frequently shows a mesenchymal gene expression signature, suggesting a relationship between NF1 status and the tumor ...
Mukherjee, Joydeep   +2 more
core   +3 more sources

Neurofibromatosis Type 1 with Bladder Involvement

open access: yesCase Reports in Urology, 2013
Neurofibromatosis type 1 is an autosomal dominant transmitted disease with various clinical manifestations. The bladder is the most commonly affected organ in the genitourinary system.
Iyimser Üre   +4 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)

open access: yesInternational 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   +10 more
wiley   +1 more source

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]

open access: yes, 2019
Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh   +76 more
core   +1 more source

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

open access: yesJCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes   +3 more
wiley   +1 more source

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

open access: yesBalkan Medical Journal, 2017
Background: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously.
Serhat Güler   +2 more
doaj   +1 more source

Attrition in Cochlear Implant Research: Sociodemographic, Audiologic, and Performance Variables

open access: yesThe Laryngoscope, EarlyView.
In a retrospective review of attrition patterns for participants in a clinical research study, sociodemographic variables were not significantly different between those who elected to withdraw and those who completed the study. Those in the withdrawal group had poorer low‐frequency residual hearing, were less likely to be electric‐acoustic stimulation ...
Amanda D. Sloop   +5 more
wiley   +1 more source

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