Vitamin D Receptor Gene Polymorphism Predicts the Outcome of Multidisciplinary Rehabilitation in Multiple Sclerosis Patients.

Better knowledge about the possible role of genetic factors in modulating the response to multiple sclerosis (MS) treatment, including rehabilitation, known to promote neural plasticity, could improve the standard of care for this disease. () gene polymorphisms are associated with MS risk, probably because of the role played by vitamin D in regulating inflammatory and reparative processes. The aim of this study was to evaluate the association of the most important functional SNPs ( (/), (/), and (/)) with functional outcome in MS patients undergoing multidisciplinary inpatient rehabilitation (MDR) treatment, in order to determine whether genetic profiling might be useful to identify subjects with a higher chance of recovery.

Watch brain circulation in unexplained progressive myelopathy: a review of Cognard type V arterio-venous fistulas.

Background: Intracranial dural arterio-venous fistulas are pathological anastomoses between arteries and veins located within dural sheets and whose clinical manifestations depend on location and hemodynamic features. They can sometimes display perimedullary venous drainage (Cognard type V fistulas-CVFs) and present as a progressive myelopathy. Our review aims at describing CVFs' variety of clinical presentation, investigating a possible association between diagnostic delay and outcome and assessing whether there is a correlation between clinical and/or radiological signs and clinical outcomes.

Factors Associated With Treatment-Related Changes in Voice Volume in People With Multiple Sclerosis.

Background: Vocal disorders are frequent in people with multiple sclerosis (MS). Cognitive impairment, fatigue, depression, and other clinical characteristics can be associated with treatment effectiveness in rehabilitation. Finding baseline characteristics that identify those who are responding to treatment can help the clinical decision-making process, which can then help improve the effectiveness of voice treatment.

Brain positron emission tomography (PET) and cognitive abnormalities one year after COVID-19.

Emerging evidence indicates that the etiologic agent responsible for coronavirus disease 2019 (COVID-19), can cause neurological complications. COVID-19 may induce cognitive impairment through multiple mechanisms. The aim of the present study was to describe the possible neuropsychological and metabolic neuroimaging consequences of COVID-19 12 months after patients' hospital discharge.

SORL1 gene mutation and octapeptide repeat insertion in PRNP gene in a case presenting with rapidly progressive dementia and cerebral amyloid angiopathy.

Background And Purpose: Cerebral amyloid angiopathy (CAA) has been associated with a variety of neurodegenerative disorders, included prion diseases and Alzheimer's disease; its pathophysiology is still largely unknown. We report the case of an 80-year-old man with rapidly progressive dementia and neuroimaging features consistent with CAA carrying two genetic defects in the PRNP and SORL1 genes.

Methods: Neurological examination, brain magnetic resonance imaging (MRI), electroencephalographic-electromyographic (EEG-EMG) polygraphy, and analysis of 14-3-3 and tau proteins, Aβ40, and Aβ42 in the cerebrospinal fluid (CSF) were performed.

One-year cognitive follow-up of COVID-19 hospitalized patients.

Background And Purpose: Cognitive dysfunction has been observed following recovery from COVID-19. To the best of our knowledge, however, no study has assessed the progression of cognitive impairment after 1 year. The aim was to assess cognitive functioning at 1 year from hospital discharge, and eventual associations with specific clinical variables.

Effects of voice rehabilitation in people with MS: A double-blinded long-term randomized controlled trial.

Background: Hypophonia is a prevailing problem in people with multiple sclerosis (PwMS). However, evidence supporting the effectiveness of voice rehabilitation is lacking.

Objective: The aim of this study was to identify the most effective method to reduce hypophonia.

Identification of modified dynamic gait index cutoff scores for assessing fall risk in people with Parkinson disease, stroke and multiple sclerosis.

Background: Balance and gait impairments increase fall rate and injury in people with neurological disorders(PwND). The modified Dynamic Gait Index(mDGI) is a scale assessing dynamic balance during walking, however its ability in identifying Fallers and Recurrent Fallers has not been studied.

Research Question: To evaluate mDGI's ability in identifying retrospective Fallers and Recurrent Fallers establishing cut-off scores for its use in clinical practice.

Minimal clinically important difference of modified dynamic gait index in people with neurological disorders.

Background: The minimal clinically important difference (MCID) of modified Dynamic Gait Index (mDGI) has not yet been determined for People with Neurological Disorders (PwND).

Research Question: To establish the MCID of the mDGI to determine clinically meaningful improvement in balance and gait in PwND.

Methods: In this longitudinal study from a randomised clinical trial, 55 participants both in and outpatients with neurological disorders, received fifteen 40-minute rehabilitation sessions.

Critical illness neuropathy in severe COVID-19: a case series.

Introduction: Neurological complications of SARS-CoV-2 disease have received growing attention, but only few studies have described to date clinical and neurophysiological findings in COVID patients during their stay in intensive care units (ICUs). Here, we neurophysiologically assessed the presence of either critical illness neuropathy (CIP) or myopathy (CIM) in ICU patients.

Materials And Methods: Patients underwent a neurophysiological assessment, including bilateral examination of the median, ulnar, deep peroneal and tibial motor nerves and of the median, ulnar, radial and sural sensory nerves.

Long-Lasting Cognitive Abnormalities after COVID-19.

Considering the mechanisms capable of causing brain alterations in COVID-19, we aimed to study the occurrence of cognitive abnormalities in the months following hospital discharge. We recruited 38 (aged 22-74 years; 27 males) patients hospitalized for complications of SARS-CoV-2 infection in nonintensive COVID units. Participants underwent neuropsychological testing about 5 months after hospital discharge.

Longitudinal changes in cerebral white matter microstructure in newly diagnosed systemic lupus erythematosus patients.

Objectives: To evaluate longitudinal variations in diffusion tensor imaging (DTI) metrics of different white matter (WM) tracts of newly diagnosed SLE patients, and to assess whether DTI changes relate to changes in clinical characteristics over time.

Methods: A total of 17 newly diagnosed SLE patients (19-55 years) were assessed within 24 months from diagnosis with brain MRI (1.5 T Philips Achieva) at baseline, and after at least 12 months.

Prevalence and patterns of subclinical motor and cognitive impairments in non-disabled individuals with early multiple sclerosis: A multicenter cross-sectional study.

Background: Motor and cognitive disorders appear early in the course of multiple sclerosis (MS) and develop gradually over time.

Objective: To study the frequency and pattern of subtle functional disorders in people with MS (PwMS) with no overt signs of disability in an early phase of the disease and their association with walking impairments in daily activities.

Methods: In this cross-sectional study, we recruited PwMS with an Expanded Disability Status Scale (EDSS) score≤2.

Effects of Intensive Voice Treatment (The Lee Silverman Voice Treatment [LSVT LOUD]) in Subjects With Multiple Sclerosis: A Pilot Study.

Aim: The rehabilitation of voice disorders is an unmet need in multiple sclerosis (MS). The Lee Silverman Voice Treatment (LSVT LOUD) is a well-documented and effective speech treatment, developed to treat voice disorders in Parkinson Disease. The purpose of the present study was to examine the viability of applying the LSVT LOUD to individuals with MS and verify short- and long-term improvements in acoustic and perceptual voice parameters.

Botulinum toxin for the management of spasticity in multiple sclerosis: the Italian botulinum toxin network study.

Background: Botulinum toxin (BT) is an effective and safe treatment for spasticity, with limited evidence in multiple sclerosis (MS). We aim to describe the use of BT for the management of MS spasticity in the clinical practice, its combination with other anti-spastic treatments in MS and possible MS clinical correlates.

Methods: This is a multicentre cross-sectional observational study including 386 MS patients, receiving BT for spasticity in 19 Italian centres (age 53.

Factors influencing balance improvement in multiple sclerosis rehabilitation: A pragmatic multicentric trial.

Objectives: Treatment for progressive multiple sclerosis (pMS) is a key area of research. To date, whether MS type and the rehabilitation setting are associated with worse or better response to rehabilitation is unclear. We aimed to understand the association between balance and MS type, in/outpatient treatment and specificity of the intervention.

Predictors of hospital-based multidisciplinary rehabilitation effects in persons with multiple sclerosis: a large-scale, single-centre study.

Background: Persons with multiple sclerosis may benefit from hospital-based multidisciplinary rehabilitation.

Objectives: To investigate the effects of hospital-based multidisciplinary rehabilitation and to identify their potential predictors in a large sample of persons with multiple sclerosis.

Methods: From the charts of 655 persons with multiple sclerosis consecutively admitted to our unit, disease profiles, modified Barthel index, Expanded Disability Status Scale (EDSS), pain numerical rating score and type of interventions were retrospectively collected.

Social Mind and Long-Lasting Disease: Focus on Affective and Cognitive Theory of Mind in Multiple Sclerosis.

The role of social cognition, including theory of mind (ToM), in affecting quality of life (QoL) along the course of diseases has been reported. This is a considerable aspect in chronic pathologies, such as multiple sclerosis (MS), in which supporting and maintaining QoL is of crucial importance. We aimed to investigate the relation between ToM, clinical variables and neuropsychological profile in a cohort of adults with long lasting disease, such as different clinical MS phenotypes (Relapsing Remitting -RR- versus Progressive -Pr).

Is Peripheral Oxygen Saturation a Reliable Predictor of Upper Airways Air-Flow Limitation?

Background: Dyspnea secondary to acute upper airways airflow limitation (UAAFL) represents a clinical emergency that can be difficult to recognize without a suitable history; even when etiology is known, parameters to assess the severity are unclear and often improperly used.

Objectives: The aim of this study was to assess the role of peripheral oxygen saturation (SpO) as a predictor of severity of upper airway obstruction.

Methods: The authors propose an experimental model of upper airway obstruction by a progressive increase of UAAFL.

Multiple Sclerosis in Italy: A 40-Year Follow-Up of the Prevalence in Ferrara.

Background: To assess a longitudinal follow-up of the prevalence of multiple sclerosis (MS) through 4 decades in the province of Ferrara, northern Italy, and reappraise the current rates on December 31, 2016.

Methods: We conducted a community-based intensive prevalence study, by adopting a complete enumeration approach. MS cases were identified from administrative health data and medical records from the Units of Neurology and Motor Rehabilitation, Ferrara University Hospital, from other provincial neurological structures and from archives of the National Pension Institute and National Health Insurance scheme of the study area.

Multiple sclerosis in the Republic of San Marino, Italian peninsula: an incidence and prevalence study from a high-risk area.

Epidemiological studies on multiple sclerosis (MS) carried out in Southern Europe in the last years have shown a significant increase in the disease frequency. Previous surveys conducted in the Republic of San Marino, Northern Italian peninsula, identified that the population is at high risk for MS, with a prevalence of 51.6 per 100,000 population in 1982 and of 166.

Multidisciplinary Rehabilitation is Efficacious and Induces Neural Plasticity in Multiple Sclerosis even when Complicated by Progressive Multifocal Leukoencephalopathy.

A 48-year-old woman with multiple sclerosis (MS), treated with natalizumab for more than one year without clinical and magnetic resonance imaging (MRI) signs of disease activity, was diagnosed with definite progressive multifocal leukoencephalopathy (PML). She presented with subacute motor deficit of the right upper limb (UL), followed by involvement of the homolateral leg and urinary urgency. The patient was treated with steroids and plasma exchange.

De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.

Background: Sporadic Hemiplegic Migraine is a rare form of migraine headache. Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder. Here, we described a de novo exonic duplication of ATP1A2 in an Italian patient with Hemiplegic Migraine.