Results 31 to 40 of about 28,093 (237)

Histopathological Evidence of Neurodegenerative Pathology in Epilepsy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Epilepsy affects > 50 million people worldwide and is associated with a disproportionate burden of cognitive impairment. Emerging evidence suggests that neurodegenerative proteinopathies, particularly hyperphosphorylated tau (p‐tau) and amyloid‐β (Aβ), may contribute to cognitive dysfunction in people with epilepsy (PWE), even in the absence ...
Syeda Amrah Hashmi, Aleksander Luniewski, Vanessa Smith, Matthew McCord, Jaideep Kapur, Mark Quigg, Catherine Joshua, Ifrah Zawar   +7 more
wiley   +1 more source

Features of clinical manifestations, diagnosis and therapy of tuberous sclerosis in children

Актуальные проблемы теоретической и клинической медицины
Tuberous sclerosis is a genetic disease from the group of phacomatoses characterized by lesions of the skin, nervous system and internal organs associated with impaired proliferation, migration anddifferentiation of neuroglia cells. In tuberous sclerosis,
M. M. Lepesova, A. A. Isabekova, D. A. Kuderbaeva, B. A. Orazaliev   +3 more
doaj   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

The effect of pregnancy on renal angiomyolipoma; a world of knowledge to gain, specifically in women with TSC

BMC Nephrology
Background Women are counseled preconceptionally about the potential risks of rAML progression and chance of complications during and due to pregnancy. However, a systematic search investigating the evidence on which this advice is based does not exist ...
Marlou W. Kluiving, Evelien F. H. I. Peeters, Titia A. Lely, Niek van Oorschot, Wendela L. de Ranitz-Greven   +4 more
doaj   +1 more source

Tips and Tricks for Hardware Removal and Allograft Fixation After a Failed Latarjet Procedure

Arthroscopy Techniques, EarlyView.
Abstract Although relatively rare, recurrent anterior shoulder instability requiring revision surgery after a failed Latarjet procedure can result in complications such as graft malposition, graft osteolysis, broken hardware and/or infection. Revision surgery after a failed Latarjet is a challenge due to a combination of technical factors such as ...
Mikalyn T. DeFoor, Ryan J. Froom, Nate J. Dickinson, Colin P. Murphy, Max Vidal, Tomas Aguirre, Christopher Bine, Matthew T. Provencher   +7 more
wiley   +1 more source

Segmental collagenoma in tuberous sclerosis – Think beyond the skin: A rare case report

Indian Journal of Dermatology, 2023
Collagenomas are connective tissue nevi characterized by an imbalance in the distribution and amount of collagen in the extracellular matrix. Shagreen patch, a collagenoma of tuberous sclerosis, is a classical finding in this genodermatosis (Tuberous ...
Ashok Kumar Nagarajan, Krishnaswamy Manoharan, Shreya Moozhiyil   +2 more
doaj   +1 more source

A guide to neuromodulation in drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort

Molecular Genetics & Genomic Medicine
Tuberous sclerosis complex (TSC) is a variable multisystem disorder. The “no mutations identified” (NMI) group are reportedly phenotypically milder than those with an identified molecular cause, and often have mosaic or intronic variants not detected by ...
Clara W. T. Chung, Adam M. Bournazos, Lok Chi Denise Chan, Vanessa Sarkozy, John Lawson, Sean E. Kennedy, Sandra T. Cooper, Edwin P. Kirk, David Mowat   +8 more
doaj   +1 more source

Magnetic resonance imaging in prenatal diagnosis of tuberous sclerosis complex: a case report

Digital Diagnostics
Early detection of orphan diseases, including tuberous sclerosis complex, requires a multidisciplinary approach and the integration of new prenatal diagnostic methods, utilizing ultrasound and magnetic resonance imaging.
Tatiana V. Ivlyukova, Daria D. Bugrova, Alexander A. Melnikov, Larisa D. Belotserkovtseva, Natalia V. Klimova   +4 more
doaj   +1 more source

Delayed brain and spine migration of a retained SEEG electrode fragment: An unexpected complication

Epileptic Disorders, EarlyView.
Abstract Background Stereoelectroencephalography (SEEG) is a well‐established technique for localizing epileptogenic zones in patients with drug‐resistant epilepsy, including children. While considered safe, rare but serious complications can occur.
Manel Krouma, Julia Makhalova, Gauthier Toutain, Francesca Pizzo, Stanislas Lagarde, Anne Lepine, Fabrice Bartolomei, Didier Scavarda   +7 more
wiley   +1 more source