The importance of routine genetic testing in pediatric epilepsy surgery.

Genetic variants in relevant genes coexisting with MRI lesions in children with drug-resistant epilepsy (DRE) can negatively influence epilepsy surgery outcomes. Still, presurgical evaluation does not include genetic diagnostics routinely. Here, we report our presurgical evaluation algorithm that includes routine genetic testing.

Real-world experience with cenobamate: A systematic review and meta-analysis.

Purpose: Despite many new ASM, the rate of patients with drug-resistant epilepsy (DRE) has not changed. Cenobamate (CNB) is a novel ASM for the treatment of focal-onset seizures in adults with high seizure freedom rates in randomized controlled trials (RCT). Although CNB appears to be effective, it is not commonly prescribed to patients with DRE, resulting in a lack of "real-world data".

Synapsin autoantibodies during pregnancy are associated with fetal abnormalities.

Anti-neuronal autoantibodies can be transplacentally transferred during pregnancy and may cause detrimental effects on fetal development. It is unclear whether autoantibodies against synapsin-I, one of the most abundant synaptic proteins, are associated with developmental abnormalities in humans. We recruited a cohort of 263 pregnant women and detected serum synapsin-I IgG autoantibodies in 13.

Cenobamate significantly improves seizure control in intellectually disabled patients with drug-resistant epilepsy and allows drug load reduction.

Introduction: Epilepsy patients with intellectual disability often suffer from drug-resistant epilepsy (DRE), which severely affects patients' quality of life. Cenobamate (CNB) is a recently approved novel and effective ASM that can achieve high rates of seizure freedom in previously drug-resistant patients.

Methods: We performed a retrospective data analysis of the first patients treated with CNB at a single center.

Is There a Cognitive Decline in Pediatric Patients Following Epilepsy Surgery?

Background: Epilepsy surgery is currently the only way to cure drug-resistant epilepsy (DRE). The loss of epileptic activity or its propagation in the developing brain may not only result in seizure freedom but also be associated with further positive effects. Here, we analyzed the cognitive development of children and adolescents with DRE after epilepsy surgery.

Family Burden and Epilepsy Surgery in Children with Drug-Resistant Epilepsy.

Introduction: Family burden (FB) in pediatric patients with drug-resistant epilepsy (DRE) is significantly higher than that in children with non-DRE. Epilepsy surgery is an established approach to treat DRE, and this study examines the impact of pediatric epilepsy surgery on FB.

Methods: We retrospectively analyzed data of families and pediatric patients with focal structural DRE treated with epilepsy surgery at our epilepsy center from April 2018 to November 2021.

Maternal synapsin autoantibodies are associated with neurodevelopmental delay.

Maternal autoantibodies can be transmitted diaplacentally, with potentially deleterious effects on neurodevelopment. Synapsin 1 (SYN1) is a neuronal protein that is important for synaptic communication and neuronal plasticity. While monoallelic loss of function (LoF) variants in the gene result in X-linked intellectual disability (ID), learning disabilities, epilepsy, behavioral problems, and macrocephaly, the effect of SYN1 autoantibodies on neurodevelopment remains unclear.

Real-world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study.

Objective: Cannabidiol (CBD) is approved for treatment of Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS), and tuberous sclerosis complex (TSC). Several studies suggest antiseizure effects also beyond these three epilepsy syndromes.

Methods: In a retrospective multicenter study, we analyzed the efficacy and tolerability of CBD in patients with epilepsy at 16 epilepsy centers.

Monoallelic gene variants cause neurodevelopmental disorder.

Collapsin response mediator proteins (CRMPs) are key for brain development and function. Here, we link CRMP1 to a neurodevelopmental disorder. We report heterozygous de novo variants in the gene in three unrelated individuals with muscular hypotonia, intellectual disability, and/or autism spectrum disorder.

Successful treatment of adult Dravet syndrome patients with cenobamate.

Dravet syndrome (DS) is a rare, drug-resistant, severe developmental and epileptic encephalopathy caused by pathogenic variants in the α subunit of the voltage-gated sodium channel gene SCN1A. Hyperexcitability in DS results from loss of function in inhibitory interneurons. Thus sodium channel blockers are usually contraindicated in patients with DS as they may lead to disease aggravation.

Real-World Experience Treating Pediatric Epilepsy Patients With Cenobamate.

Introduction: In one third of all patients with epilepsy, seizure freedom is not achieved through anti-seizure medication (ASM). These patients have an increased risk of earlier death, poorer cognitive development, and reduced quality of life. Cenobamate (CNB) has recently been approved as a promising novel ASM drug for the treatment of adults with focal-onset epilepsy.

Ictal EEG recording is not mandatory in all candidates for paediatric epilepsy surgery with clear MRI lesions and corresponding seizure semiology.

Objective: Epilepsy surgery can potentially cure drug-resistant epilepsy, but careful presurgical evaluation is vital to select patients who will profit from such an intervention. Many epilepsy surgery programs offer extensive presurgical evaluation including several days of video-EEG monitoring. Non-lesional epilepsy cases are rare among epilepsy surgery patients.

Epilepsy surgery in the first six months of life: A systematic review and meta-analysis.

Introduction: Nearly one-third of all infants with epilepsy develop drug-resistant epilepsy. Although epilepsy surgery is a well-established therapy across all age groups, there might be a reluctance to operate on infants in the first six months of life due to unique surgical and anesthesiologic difficulties.

Methods: We performed a meta-analysis and systematic review to assess the outcome and complication rate of epilepsy surgery in infants operated on ≤ six months of life.

Case Report: Hemispherotomy in the First Days of Life to Treat Drug-Resistant Lesional Epilepsy.

Neonatal drug-resistant epilepsy is often caused by perinatal epileptogenic insults such as stroke, ischemia, hemorrhage, and/or genetic defects. Rapid seizure control is particularly important for cognitive development. Since early surgical intervention and thus a short duration of epilepsy should lead to an optimal developmental outcome, we present our experience with hemispherotomy in an infant at the corrected age of 1 week.

Case Report: Behavioral Disorder Following Hemispherotomy: A Valproate Effect?

Hemispherotomy is an epilepsy surgery procedure applied to cure particularly pharmacorefractory lesional epilepsy due to unihemispheric pathologies. Such a disconnection of an entire hemisphere is followed by reorganizational processes. We describe an acute aggravation of behavioral problems following a hemispherotomy in a patient treated with valproic acid, which subsided once valproate was discontinued.

Frequency of sternal variations and anomalies in living individuals evaluated by MDCT.

Purpose: The aim of this retrospective study was to present the frequency and MDCT appearances of sternal variations and anomalies, as well as to highlight their clinical significance.

Methods: This retrospective study was carried out on 1150 patients, who underwent chest MDCT. Axial planes, multiplanar and curved-planar reconstructed images were studied.

Facial nerve: A review of the anatomical, surgical landmarks and its iatrogenic injuries.

Facial nerve iatrogenic injuries are serious and can negatively affect the quality of life of the patients. Due to the properties of the nerve, the complications are devastating involving the aesthetic appearance and the function of the face. Moreover, the multiple branches of the nerve increase the risk of an iatrogenic injury making the detailed knowledge of the anatomical correlations around them critical.

Amyand's hernia: presumptive diagnosis by CT and literature review.

Amyand's hernia is a rare inguinal hernia containing the appendix presenting mainly in male adults. The clinical presentation is usually without symptoms, however an inflammation can occur leading to strangulation, necrosis or rupture of the appendix. Differential diagnosis may be difficult including orchitis, testicular torsion, inflammation of the ovaries and bowel inflammation.

Searching for the 'winner' hip fracture patient: the effect of modifiable and non-modifiable factors on clinical outcomes following hip fracture surgery.

Background: Various factors, other than the quality of surgery, may influence clinical outcomes of hip fracture patients. We aimed to evaluate the relative impact of several factors on functional outcome, quality of life, re-fracture and mortality rates following surgery for hip fractures.

Methods: We studied 498 (62.

Complications After Anterior Cruciate Ligament Reconstruction and Their Relation to the Type of Graft: A Prospective Study of 958 Cases.

Background: Complications and adverse events after anterior cruciate ligament (ACL) reconstruction are well known, but they have been underestimated in previous studies.

Purpose: To describe the complications and adverse events after ACL reconstruction within a 2-year follow-up and analyze them in relation to the type of graft.

Study Design: Cohort study; Level of evidence, 3.

Genesis 1 posterior cruciate-retaining total knee arthroplasty with asymmetric tibial tray: An 18-to-26-year long-term clinical outcome study.

Background: To present the long-term clinical and radiological outcomes of the Genesis I posterior cruciate-retaining total knee arthroplasty (TKA) (Smith & Nephew Orthopaedics, Memphis, TN, USA) (one of the first designed with an asymmetric tibial tray).

Methods: Prospectively collected data from 117 cemented TKAs performed on 95 patients were evaluated using this design, with a mean follow-up of 21.5 years (range, 18-26).

Withdrawn: A Randomized Controlled Trial Comparing Modular and Nonmodular Neck Versions of a Titanium Stem.

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