Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.

Introduction/objective: Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition by conducting an in-depth neurophysiological examination of afflicted patients.

Methods: A retrospective analysis was conducted in 31 RFC1-positive patients.

Usefulness of somatosensory evoked potentials for monitoring the clinical course of patients with chronic inflammatory demyelinating polyradiculoneuropathy.

Introduction/aims: Somatosensory evoked potentials (SSEPs) are described as a supportive tool to diagnose chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); however, there is a lack of studies determining the effectiveness of SSEPs in monitoring the clinical course of individuals with this condition. The aims of this study are to evaluate the utility of SSEPs in monitoring patients with CIDP and to assess their association with clinical outcomes following immunomodulatory therapy.

Methods: This was a single-center retrospective observational study that included patients who met European Federation of Neurological Societies and Peripheral Nerve Society criteria for CIDP between 2018 and 2023.

Intraoperative Neurophysiological Monitoring in Syringomyelia Surgery: A Multimodal Approach.

Syringomyelia can be associated with multiple etiologies. The treatment of the underlying causes is first-line therapy; however, a direct approach to the syrinx is accepted as rescue treatment. Any direct intervention on the syrinx requires a myelotomy, posing a significant risk of iatrogenic spinal cord (SC) injury.

Retinal sensitivity and gaze fixation evaluated by microperimetry in subjects with type 2 diabetes: two independent parameters that explore different neuronal circuits.

Background And Aims: Retinal sensitivity (RS) and gaze fixation (GF) assessed by retinal microperimetry are useful and complementary tools for identifying mild cognitive impairment (MCI) in patients with type 2 diabetes (T2D). The hypothesis is that RS and GF examine different neural circuits: RS depends only on the visual pathway while GF reflects white matter complex connectivity networks. The aim of the study is to shed light to this issue by examining the relationship of these two parameters with visual evoked potentials (VEP), the current gold standard to examine the visual pathway.

RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.

Introduction: Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Sensory neuronopathy/neuropathy appears to be a major symptom of RFC1-disorder, and RFC1 expansions are common in patients with sensory chronic idiopathic axonal neuropathy or sensory ganglionopathy. We aimed to investigate RFC1 expansions in patients with suspected RFC1-related disease followed-up in a Neuromuscular Diseases Unit, with a particular interest in the involvement of the peripheral nervous system.

Genetic mapping and phenotypic analysis of in .

Genetic screens are used to identify genes involved in specific biological processes. An EMS mutagenesis screen in identified growth control phenotypes in the developing eye. One mutant line from this screen, , was phenotypically characterized using the FLP/FRT system and genetically mapped by complementation analysis and genomic sequencing by undergraduate students participating in the multi-institution Fly-CURE consortium.

[Weakness as a complication of COVID-19 in critically ill patients: clinical features and prognostic factors in a case series].

Introduction: Weakness is a frequent complication in those critically ill due to COVID-19. This study describes its characteristics and the factors that can condition and predict it.

Patients And Methods: We conducted a prospective, descriptive, observational study of patients admitted to the intensive care unit (ICU) due to COVID-19 between April and May 2020 with muscle weakness.

Seizures and electroencephalography findings in 61 patients with fetal alcohol spectrum disorders.

Fetal alcohol spectrum disorders (FASD) cause neurodevelopmental abnormalities. However, publications about epilepsy and electroencephalographic features are scarce. In this study, we prospectively performed electroencephalography (EEG) and brain magnetic resonance (MR) imaging in 61 patients with diagnosis of FASD.

Usefulness of intravenous lacosamide in status epilepticus.

Lacosamide (LCM) is a treatment option for status epilepticus (SE) described in several series. We therefore proposed to describe its use in status epilepticus patients in our hospital. All patients admitted to our hospital for SE from September 2010 to April 2012 were evaluated.

[Reversible encephalopathy caused by valproic acid in an adolescent with idiopathic generalised epilepsy].

Introduction: Encephalopathy due to valproic acid (VPA) is a rare complication leading to a disorder that affects the patient's mental status to a greater or lesser extent and which can be accompanied by a paradoxical worsening of the seizures. The diagnosis is obvious when it appears within the context of hyperammonemia or a liver pathology, but can be difficult to diagnose if it appears in isolation in patients who show no other signs of intoxication due to VPA.

Case Report: We report the case of an adolescent who suffered idiopathic generalised epilepsy and presented sub-acute cognitive impairment and a worsening of his pattern of seizures some months after starting treatment with VPA.

SIRT1 activators suppress inflammatory responses through promotion of p65 deacetylation and inhibition of NF-κB activity.

Chronic inflammation is a major contributing factor in the pathogenesis of many age-associated diseases. One central protein that regulates inflammation is NF-κB, the activity of which is modulated by post-translational modifications as well as by association with co-activator and co-repressor proteins. SIRT1, an NAD(+)-dependent protein deacetylase, has been shown to suppress NF-κB signaling through deacetylation of the p65 subunit of NF-κB resulting in the reduction of the inflammatory responses mediated by this transcription factor.

[Utilization of evoked potentials in intensive care units].

Evoked Potentials (EP) are a neurophysiological tool that makes it possible for us to make an extensive study of the cerebral cortex, the brainstem and the spinal cord. Different techniques can be applied while performing the EPs, such as Visual Evoked Potentials (VEPs), Somatosensory Evoked Potentials (SSEPs), Long Latency Somatosensory Evoked Potentials (LLSEPs), Brainstem Auditory Evoked Potentials (BAEPs), Middle Latency Auditory Evoked Potentials (MLAEPs), Long Latency Auditory Evoked Potentials (LLAEP) and Mismatch Negativity (MMN). The combination of the different techniques of Evoked Potentials (EP) allows us to make a neurofunctional evaluation of comatose patients in the Intensive Care Units (ICU).

Discovery of benzothiazole derivatives as efficacious and enterocyte-specific MTP inhibitors.

A series of triamide derivatives bearing a benzothiazole core is shown to be potent microsomal triglyceride transfer protein (MTP) inhibitors. In order to minimize liver toxicity, these compounds have been optimized to have activity only in the enterocytes and have limited systemic bioavailability. Upon oral administration, selected analogs within this series have been further demonstrated to reduce food intake along with body weight and thereby improve glucose homeostasis and insulin sensitivity in a 28-day mice diet-induced obesity (DIO) model.