Comparison of Deep Brain Stimulation of the Hippocampus to Thalamic Targets and Responsive Neurostimulation for Adult Intractable Epilepsy: A Systematic Review and Meta-Analysis.

Objective: Stereotactic neuromodulation, such as deep brain stimulation (DBS) and responsive neurostimulation (RNS), have emerged as some of the more promising means for managing drug-resistant epilepsy. This study serves as a comprehensive analysis of DBS of the anterior nucleus of the thalamus (ANT), centromedian thalamic nucleus (CMT), and hippocampus and RNS for seizure reduction in adult intractable epilepsy.

Methods: Following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, a systematic review was conducted of PubMed, Cochrane Library, and Embase databases from January 2000 to January 2024 to objectively assess the effectiveness of the various neuromodulation modalities on seizure reduction.

Risk of recurrence in patients with an unprovoked tonic-clonic seizure and generalized epileptiform discharges on EEG.

Objective: The decision to initiate treatment in patients with a first unprovoked seizure remains controversial. Studies have reported a recurrence rate ranging from 21%-50%, but most have included patients with different etiologies, electroencephalography (EEG) findings, and seizure types. This study aimed to determine the risk of recurrence in patients with a first unprovoked generalized tonic-clonic (GTC) seizure with evidence of generalized spike-wave discharges (GSWDs) on EEG and compare the efficacy of antiseizure medications (ASMs) in preventing recurrence.

Patients' and family members' views on pacemaker reuse: An international survey.

Introduction: The reuse of cardiac implantable electronic devices may help increase access to these therapies in low- and middle-income countries (LMICs). No published data exist regarding the views of patients and family members in LMICs regarding this practice.

Methods And Results: An article questionnaire eliciting attitudes regarding pacemaker reuse was administered to ambulatory adult patients and patients' family members at outpatient clinics at Centro Nacional Cardiologia in Managua, Nicaragua, Indus Hospital in Karachi, Pakistan, Hospital Carlos Andrade Marín, and Hospital Eugenio Espejo in Quito, Ecuador, and American University of Beirut Medical Center in Beirut, Lebanon.

An open label pilot study of the safety and tolerability of perampanel in amyotrophic lateral sclerosis.

Introduction/aims: Perampanel, a selective noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) antagonist, is capable of slowing the progression of the amyotrophic lateral sclerosis (ALS) phenotype and increasing the number of anterior horn cells in transgenic mice. Trials of perampanel in epilepsy showed a favorable tolerability profile. In this study we aimed to determine the tolerability and safety of perampanel in patients with ALS.

Digital thermography and vascular involvement in β-thalassemia intermedia.

Beta-thalassemia intermedia (β-TI) is associated with vascular dysfunction. We used digital thermal monitoring (DTM), a non-invasive tool that evaluates vascular function based on changes in fingertip temperature during and after cuff occlusion on β-TI patients. Thirty-three patients (18 years and older) were recruited in this study and divided into 3 groups: thalassemia, anemic controls, and healthy controls.

A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.

Seizure threshold-2 (SZT2) gene variants have been associated with a decrease in seizure threshold resulting in variable phenotypic expressions ranging from mild-moderate intellectual disabilities without seizures, to an early-onset epileptic encephalopathy with severe cognitive impairment. In addition, hypotonia and distinctive facial dysmorphism, including a high forehead and to a lesser extent ptosis and down-slanting palpebral fissures, were present in the majority. We herein report a novel SZT2 variant in one of two siblings both diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS).

FARS2 Mutations: More Than Two Phenotypes? A Case Report.

FARS2, a nuclear gene, encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS). Previous reports have described two distinct phenotypes linked to FARS2 gene mutation: an early onset epileptic encephalopathy and spastic paraplegia. This report describes a distinctive phenotype of FARS2-linked, juvenile onset refractory epilepsy, caused by a hemizygous mutation in a compound heterozygous state (p.

Efficacy and tolerability of treatment with lacosamide in children: Postmarketing experience from the Middle East.

Purpose: The aim of this study was to evaluate the tolerability and efficacy of lacosamide (LCM) in Lebanese children with focal-onset seizures and to determine if specific variables are predictive of better effectiveness.

Methods: This is a retrospective analysis from three medical centers on consecutive children diagnosed with focal onset seizures and initiated on LCM. The seizure frequencies following the introduction of LCM were recorded and compared to the baseline monthly frequency at 3, 6, 12, 18, and 24 months.

Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases.

Background: Cardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can result from either heart failure or electrical abnormalities.

Swine Atrioventricular Node Ablation Using Stereotactic Radiosurgery: Methods and In Vivo Feasibility Investigation for Catheter-Free Ablation of Cardiac Arrhythmias.

Background: Linear accelerator-based stereotactic radiosurgery delivered to cardiac arrhythmogenic foci could be a promising catheter-free ablation modality. We tested the feasibility of in vivo atrioventricular (AV) node ablation in swine using stereotactic radiosurgery.

Methods And Results: Five Large White breed swine (weight 40-75 kg; 4 females) were studied.

Iron Overload Leading to Torsades de Pointes in β-Thalassemia and Long QT Syndrome.

The authors present a unique case of torsades de pointes in a β-thalassemia patient with early iron overload in the absence of any structural abnormalities as seen in hemochromatosis. Genetic testing showed a novel KCNQ1 gene mutation 1591C>T [Gln531Ter(X)]. Testing of the gene mutation in Xenopus laevis oocytes showed loss of function of the IKs current.

Brugada Syndrome.

Brugada syndrome might stay undetected in patients until surviving cardiac arrest. Despite the prominent advances in exploring the disease in the past 2 decades, many questions remain unanswered and the controversies continue. Despite all mutations identified to be associated with the disease, two-thirds of cases have a negative genetic test.

The Muscle-Bound Heart.

Hypertrophic cardiomyopathy (HCM) is a familial cardiac disease manifested in a wide phenotype and diverse genotype and, thus, presenting unpredictable risks mainly on young adults. Extensive studies are being conducted to categorize patients and link phenotype with genotype for a better management and control of the disease with all its complications. Because the full mechanisms behind HCM are still not revealed, therapeutics are not definitive.

The Mutation P.T613a in the Pore Helix of the Kv 11.1 Potassium Channel is Associated with Long QT Syndrome.

Background: Loss-of-function mutations in the voltage gated potassium channel Kv 11.1 have been associated with the Long QT Syndrome (LQTS) type 2. We identified the p.

Genetics of sudden cardiac death.

Sudden cardiac death (SCD) is defined by the World Health Organization (WHO) as death within 1 h of symptom onset (witnessed) or within 24 h of being observed alive and symptom free (unwitnessed). It affects more than 3 million people annually worldwide and affects approximately 1/1000 people each year in the USA. Familial studies of syndromes with Mendelian inheritance, candidate genes analyses, and genome-wide association studies (GWAS) have helped our understanding of the genetics of SCD.

Utility of the exercise electrocardiogram testing in sudden cardiac death risk stratification.

Background: Sudden cardiac death (SCD) remains a major public health problem. Current established criteria identifying those at risk of sudden arrhythmic death, and likely to benefit from implantable cardioverter defibrillators (ICDs), are neither sensitive nor specific. Exercise electrocardiogram (ECG) testing was traditionally used for information concerning patients' symptoms, exercise capacity, cardiovascular function, myocardial ischemia detection, and hemodynamic responses during activity in patients with hypertrophic cardiomyopathy.

Homozygous factor V Leiden mutation in type IV Ehlers-Danlos patient.

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders caused by collagen synthesis defects. Several hemostatic abnormalities have been described in EDS patients that increase the bleeding tendencies of these patients. This case report illustrates a patient with an unusual presentation of a patient with type IV EDS, platelet δ-storage pool disease and factor V Leiden mutation.