Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.

Introduction/aims: Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA). The effect of nusinersen on fatigability in SMA patients has been investigated with conflicting results. We aimed to evaluate this in adult with SMA3.

Clinical, prognostic and pathophysiological implications of MOG-IgG detection in the CSF: the importance of intrathecal MOG-IgG synthesis.

Background: Cerebrospinal fluid myelin oligodendrocyte glycoprotein IgG (CSF MOG-IgG) are found in a proportion of patients with MOG antibody-associated disorder (MOGAD) and have been associated with severe disease presentations. However, most studies did not systematically investigate the role of MOG-IgG intrathecal synthesis (ITS).

Methods: We retrospectively studied 960 consecutive patients with paired serum and CSF samples screened for MOG-IgG using a live cell-based assays.

Articular arthrodesis with the facet wedge technique for the treatment of unstable lumbar degenerative disease and associated conditions: A retrospective study of 96 patients.

Background: Lumbar articular fusion with the facet wedge (FW) technique is gaining increasing interest among surgeons for the treatment of vertebral instability due to its limited invasiveness and ease of use. Studies on cadavers have reported biomechanical properties similar to pedicle screws. Yet, the evidence supporting their use is still limited and moreover focused only on spinal degenerative disease.

Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in -associated Parkinson's disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol.

Background: Heterozygous mutations in the gene, encoding the lysosomal enzyme β-glucocerebrosidase (GCase), are the most frequent genetic risk factor for Parkinson's disease (PD). -related PD (GBA-PD) patients have higher risk of dementia and reduced survival than non-carriers. Preclinical studies and one open-label trial in humans demonstrated that the chaperone ambroxol (ABX) increases GCase levels and modulates α-synuclein levels in the blood and cerebrospinal fluid (CSF).

Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.

Due to poor data in literature, we aimed to investigate the respiratory function in a large cohort of naïve Italian adult (≥18 years) SMA patients in a multi-centric cross-sectional study. The following respiratory parameters were considered: forced vital capacity (FVC), forced expiratory volume in one second (FEV1) and need for non-invasive ventilation (NIV). We included 145 treatment-naïve adult patients (SMA2=18, SMA3=125; SMA4=2), 58 females (40 %), with median age at evaluation of 37 years (range 18-72).

Postpartum relapse risk in multiple sclerosis: a systematic review and meta-analysis.

The influence of pregnancy on the course of multiple sclerosis (MS) has long been controversial. While historical evidence suggests a substantial decline in relapse rates during pregnancy followed by a rebound in the postpartum period, more recent work yielded equivocal results. We performed a systematic review and meta-analysis on data from cohort studies to determine whether women with MS experience increased relapse rates after delivery.

Left Mesial Temporooccipital PLNTY: Supracerebellar Transtentorial Approach in Epilepsy Surgery.

The supracerebellar transtentorial approach for the resection of brain lesion at the level of the mesial temporooccipital region is underused in the field of epilepsy surgery, despite the theoretical advantage of sparing normal brain structures, in particular in the dominant hemisphere for language. Hereby we present the case of a patient with a low-grade epilepsy associated tumor, presenting with weekly drug-resistant focal seizures, treated by a supracerebellar transtentorial lesionectomy. Surgery was uneventful and the histopathology revealed a pleomorphic low-grade neuroepithelial tumor of the young patient.

Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales.

Background: Current clinical rating scales in frontotemporal dementia (FTD) often do not incorporate neuropsychiatric features and may therefore inadequately measure disease stage.

Methods: 832 participants from the Genetic FTD Initiative (GENFI) were recruited: 522 mutation carriers and 310 mutation-negative controls. The standardised GENFI clinical questionnaire assessed the frequency and severity of 14 neuropsychiatric symptoms: visual, auditory, and tactile hallucinations, delusions, depression, anxiety, irritability/lability, agitation/aggression, euphoria/elation, aberrant motor behaviour, hypersexuality, hyperreligiosity, impaired sleep, and altered sense of humour.

Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study.

The recent approval of disease-modifying therapies for spinal muscular atrophy (SMA) raised the need of alternative outcome measures to evaluate treatment efficacy. In this study, we investigated the potential of muscle quantitative MRI (qMRI) as a biomarker of disease progression in adult SMA3 patients during nusinersen treatment. Six adult SMA3 patients (age ranging from 19 to 65 years) underwent 2-point Dixon muscle qMRI at beginning of nusinersen treatment (T0) and after 14 months (T14) to evaluate the muscle fat fraction (FF) at thigh and leg levels; patients were clinically assessed at T0 and T14 with the Hammersmith Functional Rating Scale Expanded (HFMSE), the Revised Upper Limb Module (RULM) and the 6-minute walk test (6MWT).

Burden of headache in a HIV-positive population of sub-Saharan Africa.

Background: About 26 million people are living with HIV in sub-Saharan Africa. The DREAM programme in sub-Saharan Africa provides free healthcare for HIV/AIDS and a range of chronic non-communicable diseases. HIV is a risk factor for neurological non-communicable diseases including stroke and epilepsy, which themselves are associated with headache, and HIV may be a direct risk factor for headache.

Development of and Gathering Validity Evidence for a Theoretical Test in Contrast-Enhanced Ultrasound.

Contrast-enhanced ultrasound (CEUS) is an imaging modality applied in a broad field of medical specialties for diagnostic uses, guidance during biopsy procedures and ablation therapies and sonoporation therapy. Appropriate training and assessment of theoretical and practical competencies are recommended before practicing CEUS, but no validated assessment tools exist. This study was aimed at developing a theoretical multiple-choice question-based test for core CEUS competencies and gathering validity evidence for the test.

Does observance of Ramadan affect sleep in athletes and physically active individuals? A systematic review and meta-analysis.

The purpose of this systematic review and meta-analysis is to provide an accurate description of the effect of Ramadan observance on sleep duration, sleep quality, daily nap duration, and daytime sleepiness in athletes and physically active individuals. Five electronic databases (PubMed, Web of Science, Scopus, Wiley, and Taylor and Francis) were used to search for relevant studies conducted with athletes or physically active individuals during Ramadan, published in any language, and available before May 23, 2021. Studies that included assessments of sleep quantity and/or quality, and/or daytime sleepiness, and/or daily naps in athletes and physically active individuals were included.

Spinal muscular atrophy: state of the art and new therapeutic strategies.

Spinal muscular atrophy (SMA) is a severe disorder of motor neurons and the most frequent cause of genetic mortality, due to respiratory complications. We are facing an exciting era with three available therapeutic options in a disease considered incurable for more than a century. However, the availability of effective approaches has raised up ethical, medical, and financial issues that are routinely faced by the SMA community.

Brivaracetam as add-on treatment in focal epilepsy: A real-world time-based analysis.

The study assessed the clinical response to add-on brivaracetam (BRV) in real-world practice by means of time-to-baseline seizure count methodology. Patients with focal epilepsy who were prescribed add-on BRV were identified. Primary endpoint was the time-to-baseline seizure count defined as the number of days until each patient experienced the number of focal seizures that occurred in the 90 days before BRV initiation.

Uncertainty modelling in deep learning for safer neuroimage enhancement: Demonstration in diffusion MRI.

Deep learning (DL) has shown great potential in medical image enhancement problems, such as super-resolution or image synthesis. However, to date, most existing approaches are based on deterministic models, neglecting the presence of different sources of uncertainty in such problems. Here we introduce methods to characterise different components of uncertainty, and demonstrate the ideas using diffusion MRI super-resolution.

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.

Objective: To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).

Methods: Inclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at baseline (T0-beginning of treatment) and 6 months (T6).

Results: We included 116 patients (13 SMA2 and 103 SMA3) with median age at first administration of 34 years (range 18-72).

A Thirty-Five-Minute Nap Improves Performance and Attention in the 5-m Shuttle Run Test during and Outside Ramadan Observance.

Ramadan observance is characterized by several changes in behaviors, such as food and sleep, which could affect physical and cognitive performance. The aim of the present study was to investigate the effects of a 35-min nap (N35) opportunity on physical performance during the 5-m shuttle run test (5mSRT); attention; feelings; mood states; and perceptual measures of stress, fatigue, and muscle soreness during Ramadan observance. Fourteen physically active men (22 ± 3 years, 177 ± 4 cm, 76 ± 5 kg) were tested after a no-nap condition (N0), N35 15 days before Ramadan (BR), the last 10 days of Ramadan (DR), and 20 days after Ramadan (AR).

Restless Legs Syndrome across the Lifespan: Symptoms, Pathophysiology, Management and Daily Life Impact of the Different Patterns of Disease Presentation.

Restless legs syndrome is a common but still underdiagnosed neurologic disorder, characterized by peculiar symptoms typically occurring in the evening and at night, and resulting in sleep disruption and daily functioning impairment. This disease can affect subjects of all age ranges and of both sexes, manifesting itself with a broad spectrum of severity and deserving special attention in certain patient categories, in order to achieve a correct diagnosis and an effective treatment. The diagnosis of restless legs syndrome can be challenging in some patients, especially children and elderly people, and an effective treatment might be far from being easy to achieve after some years of drug therapy, notably when dopaminergic agents are used.

An Online Tool to Assess Sentence Comprehension in Teenagers at Risk for School Exclusion: Evidence From L2 Italian Students.

This study presents a web-based sentence comprehension test aimed at identifying high school students who are at risk for a language delay. By assessing linguistic skills on a sample of high school students with Italian as an L2 and their monolingual peers, attending a vocational school, we were able to identify a subgroup of L2 students with consistent difficulties in sentence comprehension, though their reading skills were within the average range. The same subgroup revealed to experience a lack of support within the school context, suggesting that poor L2 skills might be a critical variable to consider in order to identify students at risk for school exclusion.