Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial.

Background: DNA polymerase gamma (POLG)-related disorders are a group of rare neurodegenerative mitochondrial diseases caused by pathogenic variants in , the gene encoding POLG. Patients may experience a range of signs and symptoms, including seizures, vision loss, myopathy, neuropathy, developmental impairment or regression, and liver failure. The diseases follow a progressive, degenerative course, with most affected individuals dying within 3 months-12 years of diagnosis.

Sulthiame use in children with pharmacoresistant epilepsies: A retrospective study.

Objective: This retrospective study aimed to assess the efficacy and tolerability of sulthiame as an add-on treatment in children with pharmacoresistant epilepsies.

Methods: All patients with epilepsy who received sulthiame at Montreal Children's Hospital over an 11-year period were included. Medical charts were reviewed, and extracted data included patient age and sex, seizure types, epilepsy syndrome, electroencephalography (EEG) reports, brain imaging reports, antiseizure treatments trialed, starting and final dose of sulthiame, duration of sulthiame treatment, adverse events attributed to sulthiame, and seizure frequency before and after sulthiame treatment.

Sociocultural Factors Influence on Burden and Stress of Caregivers of Children with Epilepsy.

We evaluated stress and burden in epilepsy patient caregivers in a pediatric neurology clinic. Caregivers of 102 children with epilepsy completed the Caregivers' Assessment of Difficulty Index and a questionnaire regarding caregiver sociocultural characteristics. A multiple linear regression statistical analysis found that caregiver burden was significantly increased for those who had a second child with a chronic disease, sole caregivers and for those with children with drug-resistant epilepsy.

Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.

CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. CLCN4 encodes the vesicular 2Cl/H exchanger ClC-4, and CLCN4 pathogenic variants frequently result in altered ClC-4 transport activity. The precise cellular and molecular function of ClC-4 remains unknown; however, together with ClC-3, ClC-4 is thought to have a role in the ion homeostasis of endosomes and intracellular trafficking.

Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.

We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery evaluation over a 5-year period. We extracted and analyzed results of genetic testing as well as clinical, EEG, and neuroimaging data.

The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.

Background: Periventricular nodular heterotopia (PVNH) is a congenital brain malformation often associated with seizures. We aimed to clarify the spectrum of epilepsy phenotypes in PVNH and the significance of specific brain malformation patterns.

Methods: In this retrospective cohort study, we recruited people with PVNH and a history of seizures, and collected data via medical record review and a standardized questionnaire.

Randomized placebo-controlled crossover trial of memantine in children with epileptic encephalopathy.

Memantine is an N-methyl-D-aspartate receptor antagonist, approved for dementia treatment. There is limited evidence of memantine showing benefit for paediatric neurodevelopmental phenotypes, but no randomized placebo-controlled trials in children with developmental and epileptic encephalopathy. In this randomized double-blind placebo-controlled crossover trial (Trial registration: https://clinicaltrials.

A retrospective analysis of memantine use in a pediatric neurology clinic.

Background: Memantine is an N-methyl-D-aspartate receptor (NMDA-R) antagonist, approved for dementia, but also studied in pediatric autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD).

Methods: We reviewed children treated with memantine in a single-centre pediatric neurology clinic. Clinical data extracted included age, sex, weight, clinical history, reason for memantine prescription, period of treatment trial and dosage, treatment response, side effects, and concomitant medications.

Seizures in Sotos syndrome: Phenotyping in 49 patients.

We aimed to describe the phenotypic spectrum of seizures in Sotos syndrome, a genetic condition involving overgrowth, macrocephaly, dysmorphic features, and learning disability, in which 60%-90% have NSD1 pathogenic variants. Patients were recruited from clinics and referral from support groups. Those with seizures and a clinical diagnosis of Sotos syndrome were included.

Serum Levels of Valproic Acid and Carbamazepine Do Not Correlate Well with End-Organ Dysfunction.

Background: Serum levels of anticonvulsants are commonly ordered; however, the clinical utility of these laboratory tests is unclear. Clarifying the significance of anticonvulsant drug levels is essential to allow physicians to make appropriate management decisions. We aimed to determine to what extent elevated serum levels of valproic acid (VPA) and carbamazepine (CBZ) correlate with laboratory indications of end-organ dysfunction.

A new radiopaque embolizing agent for the treatment of endoleaks after endovascular repair: influence of contrast agent on chitosan thermogel properties.

A new injectable radiopaque embolizing agent has been developed, based on chitosan thermogelling properties. Different commercial contrast agents (Isovue®, Visipaque®, and Conray®) were associated with chitosan-β-glycerophosphate. Their impact on gelation kinetic, mechanical properties, radiopacity, and cytotoxicity was tested to evaluate the best candidate and its feasibility for the treatment of endoleaks after endovascular aneurysm repair (EVAR).

A new injectable radiopaque chitosan-based sclerosing embolizing hydrogel for endovascular therapies.

Endovascular repair of abdominal aortic aneurysms with a stent graft is limited by the persistence or recurrence of endoleaks. These are believed to be related to the recanalization of the aneurismal sac by endothelialized neochannels, which could lead to late type I and II endoleaks. Embolization has been proposed to treat or prevent endoleaks, but presently commercialized embolizing materials have several drawbacks and do not fully prevent endoleak recurrence.

Preventing bladder tumor implantation with photodynamic therapy in a rat model mimicking post-fluorescence guided transurethral resection.

Purpose: Fluorescence guided transurethral resection has gained acknowledgment from the urological community and it is progressively becoming more applied. It has been shown to decrease the recurrence rate of nonmuscle invasive bladder cancer due to incomplete resection due to lack of visualization. The implantation of viable tumor cells seeded during transurethral resection is another reason for recurrence.

Analysis of differential PDT effect in rat bladder tumor models according to concentrations of intravesical hexyl-aminolevulinate.

The hexylester of 5-aminolevulinic acid (HAL) is a very efficient precursor of the photosensitizer protoporphyrin IX (PpIX) for photodynamic therapy (PDT). Our previous study, performed in rat orthotopic bladder tumors, indicated an opposite effect of HAL/PpIX-PDT according to HAL concentration. The present study investigated possible reasons for this differential effect considering the impact of extracted amounts of PpIX in normal and tumor bearing bladders along with PpIX distribution in distinctive histopathological layers.

Orthotopic animal models for oncologic photodynamic therapy and photodiagnosis.

Photodynamic therapy is a complex treatment modality where a large array of factors can influence therapeutic outcome. Vascularization, vessel permeability, oxygenation and light distribution in the tissue as well as immune response play a key role in the photodynamic process. Each of these factors can be influenced by the choice of the animal model.

A novel orthotopic bladder tumor model with predictable localization of a solitary tumor.

An ideal bladder tumor model consists in an orthotopic solitary tumor with a well-defined localization and stage, as well as unaltered normal mucosa. None of the existing models covers all these requirements. We have created a new model, suitable for diagnostic and therapeutic purposes.