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Pathology-specific lipid alterations with triacylglycerol as a potential biomarker in Focal cortical dysplasia (FCD) and Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS).
Neuroscience
December 2024
Dr. B.R. Ambedkar Center for Biomedical Research (ACBR), University of Delhi, Delhi, India. Electronic address:
Focal Cortical Dysplasia (FCD) & Mesial Temporal Lobe Epilepsy-Hippocampal Sclerosis (MTLE-HS) are two common pathologies of drug-resistant focal epilepsy (DRE). Inappropriate localization of the epileptogenic zones (EZs) in FCD is a significant contributing factor to the unsatisfactory surgical results observed in FCD cases. Currently, no molecular or cellular indicators are available which can aid in identifying the epileptogenic zones (EZs) in FCD.
View Article and Find Full Text PDFESR Essentials: Image evaluation of patients with seizures and epilepsy-practice recommendations by the European Society of Neuroradiology.
Eur Radiol
December 2024
Department of Neuroradiology, Medical Center-University of Freiburg, Freiburg, Germany.
Epilepsy, a neurological disorder characterised by recurrent seizures, poses significant challenges in diagnosis, treatment, and management. Understanding the underlying causes and identifying precise anatomical locations of epileptogenic foci are critical for effective management strategies, particularly in drug-resistant patients. Neuroimaging techniques, particularly magnetic resonance (MR), play a pivotal role in the evaluation of epilepsy patients, offering insights into structural abnormalities, epileptogenic lesions, and functional alterations within the brain.
View Article and Find Full Text PDFFoetal achondroplasia: Prenatal diagnosis, outcome and perspectives.
J Gynecol Obstet Hum Reprod
December 2024
URP FETUS 7328, Federation for Research into Innovative Explorations and Therapeutics in Utero, and LUMIERE Platform, University of Paris Cité, Paris, France; Department of Obstetrics and Gynecology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France. Electronic address:
Background: Achondroplasia, due to a specific pathogenic variant in FGFR3, is the most common viable skeletal dysplasia and the diagnosis is mostly done in the prenatal period. Since 2021, the use of Vosoritide, a specific treatment for achondroplasia, validated in phase 3 placebo-controlled trials, has been recommended to significantly increase the height of children and infants. In the light of these new therapeutic prospects, a complete understanding of the pathophysiology of skeletal damages occurring from foetal life is required.
View Article and Find Full Text PDFThe Role of Neuropathology Evaluation in the Nonclinical Assessment of Seizure Liability.
Toxicol Pathol
December 2024
GEMpath, Inc., Longmont, Colorado, USA.
Test article (TA)-induced seizures represent a major safety concern in drug development. Seizures (altered brain wave [electrophysiological] patterns) present clinically as abnormal consciousness with or without tonic/clonic convulsions (where "tonic" = stiffening and "clonic" = involuntary rhythmical movements). Neuropathological findings following seizures may be detected using many methods.
View Article and Find Full Text PDFHippocampal dentate gyrus dysplasia and the risk of sudden unexpected death.
J Neuropathol Exp Neurol
November 2024
Department of Pathology and Anatomical Sciences, University of Missouri School of Medicine, Columbia, MO, United States.
Hippocampal dentate gyral dysplasia is well-described in temporal lobe epilepsy and may be a risk factor for sudden, unexpected death in several populations: infants (sudden infant death syndrome [SIDS], sudden unexpected infant death [SUID]), toddlers (sudden unexpected death of a child [SUDC]), and epileptics (sudden unexpected death in epilepsy [SUDEP]). We examined reports and histopathological slides from autopsies performed at our institution from 2008 through 2016 to determine whether the presence or absence of any of the described forms of such dysplasias (duplications, hyperconvolutions, and granule cell dispersion, including bilamination), correlated with the causes of death. From well over 4000 autopsies, we identified 949 autopsies with a neuropathology examination by a neuropathologist.
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