Results 51 to 60 of about 36,792 (224)

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

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

Neurofibromatosis type 2: A case study

South African Journal of Radiology, 2002
No abstract available.
H. G. Kritzinger
doaj   +1 more source

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

JCPP 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, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Magnetic Resonance Findings of Neurofibromatosis Type 2: A Case Report [PDF]

, 2022
Khadija Laasri, Salma Marrakchi, Zakia Yousif, Ittimade Nassar, Nabil Moatassim Billah, D Evans, S Huson, D Donnai, W Neary, V Blair, V Mautner, M Tatagiba, M Lindenau, C Fnsterer, S Pulst, M Baser, D Evans, G Rouleau, W Wertelecki, J Haines, W Hobbs, J Trofatter, Wippold Fj 2nd, M Lubner, R Perrin, M Lmmle, A Perry, J Antinheimo, R Sankila, O Carpn, E Pukkala, M Sainio, D Gutmann, A Aylsworth, J Carey, B Korf, J Marks, V Mautner, M Lindenau, M Baser, W Hazim, M Tatagiba, S Aoki, A Barkovich, K Nishimura, B Kjos, T Machida, N Patronas, N Courcoutsakis, C Bromley, G Katzman, M Maccollin, G Spilberg, E Marchiori, E Gasparetto, A Asthagiri, D Parry, J Butman, H Kim, E Tsilou, S Ahlawat, J Blakeley, S Langmead, A Belzberg, L Fayad, N Patronas, N Courcoutsakis, C Bromley, G Katzman, M Maccollin, S Plotkin, A Wick, M Baser, J Friedman, D Aeschliman, H Joe, A Wallace   +76 more
openalex   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study

Orphanet Journal of Rare Diseases, 2022
Background Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described.
S. Legoupil, D. Bessis, F. Picard, S. Mallet, J. Mazereeuw, A. Phan, D. Dupin-Deguine, M. Kalamarides, Research Group of the French Society of Paediatric Dermatology, C. Chiaverini   +9 more
doaj   +1 more source

No increased risk of spinal cerebrospinal fluid leak after spinal manipulative therapy: A retrospective cohort study

PM&R, EarlyView.
Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager, Collin M. Labak, Anthony N. Baumann, Tyler H. Snodgrass, Zachary A. Cupler   +4 more
wiley   +1 more source

Presenting Symptoms of Neurofibromatosis Type 2

Pediatric Neurology Briefs, 1999
The frequency and mode of presentation of neurofibromatosis type 2 (NF2) was investigated at St Mary’s Hospital, the Royal Manchester Children’s Hospital, and the Manchester Royal Infirmary, Manchester, UK.
J Gordon Millichap
doaj   +1 more source