Results 71 to 80 of about 97,471 (278)

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

Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease

Indian Journal of Endocrinology and Metabolism, 2011
Neurofibromatosis type 1 is the most common phakomatoses and is inherited in autosomal dominant fashion with complete penetrance. Secondary hypertension is common in these patients due to various causes including adrenal tumors.
Ranil Johann Boaz, Pooja Ramakant, Andrew Ebenazer, Rekha Pai, Simon Rajaratnam, Deepak Abraham, M J Paul   +6 more
doaj   +1 more source

Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]

, 2013
Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO, Nicita F, PAOLINO, MARIA CHIARA, PARISI, Pasquale, PERSECHINO, Severino, Torrente I, VILLA, MARIA PIA   +6 more
core   +2 more sources

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

Optic nerve sheath diameter measurements monitor the impact of venous sinus stenosis and surgery on intracranial pressure in NF2 meningioma patients

Scientific Reports
The study aimed to evaluate intracranial pressure (ICP) in NF2-associated meningiomas using perioperative optic nerve sheath diameter (ONSD) measurements.
Julian Zipfel, Mykola Gorbachuk, Florian Grimm, Ulrike Ernemann, Martin Ulrich Schuhmann, Marcos Tatagiba, Isabel Gugel   +6 more
doaj   +1 more source

Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination [PDF]

, 2012
Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix.
Henning Gronbaek, Ida Vogel, Klaus Krogh, Lars J. Jørgensen, Nanna Holt, Tine Gregersen   +5 more
core   +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

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

Dowling-Degos Disease: Case Report and Review of the Literature [PDF]

, 2010
Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A
Baran, Wojciech, Batycka-Baran, Aleksandra, Burgdorf, Walter H. C., Hryncewicz-Gwozdz, Anita   +3 more
core   +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