Results 1 to 10 of about 54,369 (243)

Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up

Epileptic Disorders, EarlyView.
Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger, Lotte Noorlag, Willem M. Otte, Maeike Zijlmans, Rosalie L. Neijzen, Sandra M. A. van der Salm, Floor E. Jansen, Kees P. J. Braun, Eric van Diessen   +8 more
wiley   +1 more source

Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: a case report

Journal of Medical Case Reports, 2012
Introduction Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma.
Kim Bu, Choi Young, Gwoo Sangeon, Park Yo, Yang Song I, Kim Jeong   +5 more
doaj   +1 more source

Somatostatinoma of the Vater's papilla in a patient with von Recklinghausen's disease [PDF]

Vojnosanitetski Pregled, 2007
Background. Somatostatinomas of the gastrointestinal tract secret hormone somatostatin which can cause "inhibitory syndrome" comprising diabetes mellitus, cholelithiasis and steatorrheic diarrhea.
Čolović Radoje, Micev Marjan, Grubor Nikica, Radak Vladimir   +3 more
doaj   +1 more source

Raising resilience: A parenting intervention for families affected by childhood epilepsy

Epilepsia, EarlyView.
Abstract Objective Despite behavioral concerns reported among children with epilepsy, evidence‐based family‐focused interventions designed for this population remain limited. The objectives of this study were to characterize behavioral concerns and parent mental health needs in families of children with epilepsy relative to children with non‐epileptic ...
Samantha J. Feldman, Bianca C. Bondi, Chantal C. Cheung, Heather Olivieri, Tricia S. Williams   +4 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

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 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

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

Familial Cancers Associated With Cancers of the Breast, Prostate, Colorectum, and Lung in Sweden

International Journal of Cancer, EarlyView.
ABSTRACT Available epidemiological evidence shows that many cancers share familial risks, and this is increasingly confirmed by data on shared pathogenic germline gene variants between cancers. We decided to harness the world's largest resource on familial cancer to assess discordant familial risks for female breast (BC), prostate (PC), colorectal (CRC)
Frantisek Zitricky, Kristina Sundquist, Jan Sundquist, Akseli Hemminki, Asta Försti, Kari Hemminki   +5 more
wiley   +1 more source