Results 151 to 160 of about 46,855 (284)

Tuberous Sclerosis and Bilateral Renal Angiomyolipomas: A Case Report and Literature Review of Emerging Treatment Strategies

Case Reports in Nephrology, 2016
Tuberous sclerosis complex is a rare multisystemic genetic disorder associated with the development of benign hamartomas. Angiomyolipomas are one such characteristic finding that may be seen in 55–80% of tuberous sclerosis complex patients.
Francois Jo-Hoy, Omar Tolaymat, Ryan Kunjal, Leighton R. James   +3 more
doaj   +1 more source

Double‐chambered left ventricle in a pediatric patient with tuberous sclerosis complex: A case report

Pediatric Investigation, EarlyView.
Haoxuan Li, Yufei Xie, Qun Wu, Xiaomin Duan, Fangyun Wang, Xin Zhang, Jing Wang   +6 more
wiley   +1 more source

EEG functional connectivity as a marker of evolution from infantile epileptic spasms syndrome to Lennox–Gastaut syndrome

Epilepsia, EarlyView.
Abstract Objective Timely diagnosis and effective treatment of Lennox–Gastaut syndrome (LGS) improve prognosis and lower health care costs, but the transition from infantile epileptic spasms syndrome (IESS) to LGS is highly variable and insidious. Objective biomarkers are needed to monitor this progression and guide clinical decision‐making. Methods We
Blanca Romero Milà, Virginia B. Liu, Rachel J. Smith, Derek K. Hu, Natalie A. Benneian, Shaun A. Hussain, Maija Steenari, Donald Phillips, David Adams, Clare Skora, Beth A. Lopour, Daniel W. Shrey   +11 more
wiley   +1 more source

Pediatric Investigation Plans for seizure and epilepsy treatments: An analysis since the implementation of the European Pediatric Regulation in 2006

Epilepsia, EarlyView.
Abstract Objective A Pediatric Investigation Plan (PIP) implemented under the European Pediatric Regulation (EC No. 1901/2006) aims to ensure early and systematic evaluation of medicines for children. We analyze PIPs for antiseizure medications (ASMs) submitted to the European Medicines Agency (EMA) since 2006, characterizing their content, focusing on
Valeria Agostini, Stéphane Auvin
wiley   +1 more source

Sclérose tubéreuse de Bourneville, recensement cantonal [PDF]

, 2015
Contexte : La sclérose tubéreuse de Bourneville (STB) est une maladie génétique dont la majorité des cas est dûe à des mutations de novo. Son incidence est approximativement de 1/6'000 nouveau-nés.
NICOD, O.
core  

Scalp high‐frequency activity differentiates neonates with seizures from healthy neonates and indicates postneonatal epilepsy risk

Epilepsia, EarlyView.
Abstract Objective This study investigated whether scalp high‐frequency activity (HFA) rates in neonates with seizures predict postneonatal epilepsy (PNE). It also assessed whether HFA rates differentiate neonates with seizures from healthy neonates and whether they vary by seizure etiology, therapeutic hypothermia, and electroencephalographic (EEG ...
Panagiota Karatza, Dorottya Cserpan, Santo Pietro Lo Biundo, Andrea Rüegger, Francesco Pisani, Johannes Sarnthein, Georgia Ramantani   +6 more
wiley   +1 more source

Clinical outcomes following stereotactic MRI‐guided laser ablation in children with tuberous sclerosis complex and intractable epilepsy

Epilepsia, EarlyView.
Abstract Objective In children with tuberous sclerosis complex (TSC) and drug‐resistant epilepsy (DRE), magnetic resonance imaging–guided stereotactic laser ablation (SLA) therapy offers less‐invasive treatment compared to craniotomy and resection. Our study seeks to further expand on the long‐term outcomes in patients with TSC‐related DRE who have ...
Chelsey Ortman, Rohini Coorg, Irfan Ali, Dave Clarke, Gloria Diaz‐Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Deepankar Mohanty, Anuranjita Nayak, Michael Quach, Vijay M. Ravindra, James J. Riviello, Sonali Sen, Elaine Seto, Danielle Takacs, Cristina Trandafir, John T. Freiling, Karen Evankovich, Yingchao Yuan, Kalman A. Katlowitz, Daniel Curry, Howard L. Weiner, Anne Anderson   +23 more
wiley   +1 more source

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

Case Reports in Neurological Medicine
Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes.
Keval Thakkar, Fnu Raveena, Aakash Kumar, Doongro Mal, Dileep Kumar, Neha Ahuja, Rahul Mandhan, Aqsa Baig, Manjeet Singh, Heeya Shah, Taha Sajjad, Mansi Singh   +11 more
doaj   +1 more source

Clinical Manifestation, Surveillance, and Complication in Tuberous Sclerosis Complex in Dr. Moewardi Hospital

, 2020
Baarid Luqman Hamidi, Diah Kurnia Mirawati, Rivan Danuaji, Subandi Subandi, Pepi Budianto, Yetty Hambarsari, Hanindya Riani Prabaningtyas   +6 more
openalex   +2 more sources

Ultrasonographic diagnosis of caudoproximal humeral stress fracture in thoroughbred racehorses

Equine Veterinary Journal, EarlyView.
Abstract Background Humeral stress fractures in racehorses can progress to catastrophic fracture if unrecognised. Scintigraphy is the gold standard diagnostic technique but is limited by accessibility and cost. It was hypothesised that ultrasonography could be used to visualise caudoproximal humeral stress fractures. Objectives To determine the utility
Betsy Vaughan, Erin R. McKerney, Carolyn Wollenberger, Ashton Cloninger, Mathieu Spriet, Larry Galuppo, Susan M. Stover   +6 more
wiley   +1 more source