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Papers by Paola Lanteri

Journal of Psychophysiology, 2020

Abstract. Circadian mechanisms and the sleep-wakefulness rhythms guarantee survival, adaptation, ... more Abstract. Circadian mechanisms and the sleep-wakefulness rhythms guarantee survival, adaptation, efficient action in everyday life or in emergencies and well-being. Disordered circadian processes a...

Objective: To assess whether a slackline intervention program improves postural control in childr... more Objective: To assess whether a slackline intervention program improves postural control in children/adolescents with spastic cerebral palsy (CP). Design: Randomized controlled trial. Setting: Patients' association. Participants: Twenty-seven children/ adolescents with spastic CP (9-16 years) were randomly assigned to a slackline intervention (n = 14, 13 ± 3 years) or control group (n = 13, 12 ± 2 years). Intervention: Three slackline sessions per week (30 min/session) for 6 weeks. Main outcome measures: The primary outcome was static posturography (center of pressure-CoP-parameters). The secondary outcomes were surface myoelectrical activity of the lower-limb muscles during the posturography test and jump performance (countermovement jump test and Abalakov test). Overall (RPE, >6-20 scale) rating of perceived exertion was recorded at the end of each intervention session. Results: The intervention was perceived as "very light" (RPE = 7.6 ± 0.6). The intervention yiel...

Background and objectives Nonsuicidal self-injury (NSSI) is most common in adolescent populations... more Background and objectives Nonsuicidal self-injury (NSSI) is most common in adolescent populations whose prevalence is continuously increasing. The underlying neurobiology of NSSI and pain processing has not yet sufficiently understood. Alterations of the sensory processing and modulation could explain the emotional dysregulation. We investigated the clinical usefulness of short and longlatency somatosensory evoked potentials (Sh and LL-SSEPs) as indirect evaluation of sensory processing characteristics, compared to psychological, sensory and behavioural measures in adolescents with NSSI. Methods A group of 12 patients with NSSI and a control group comprised 9 patients with other psychopathological disorders without NSSI were investigated with the Self Harm subscale of the Risk-Taking and Self-Harm Inventory for Adolescents, the Italian form of assessment of self-injurious behaviour, the Adult/Adolescent the Sensory Profile (SP), an Italian a self-report psychiatric scale for childre...

Communications Biology

Modern societies are experiencing an increasing trend of reduced sleep duration, with nocturnal s... more Modern societies are experiencing an increasing trend of reduced sleep duration, with nocturnal sleeping time below the recommended ranges for health. Epidemiological and laboratory studies have demonstrated detrimental effects of sleep deprivation on health. Sleep exerts an immune-supportive function, promoting host defense against infection and inflammatory insults. Sleep deprivation has been associated with alterations of innate and adaptive immune parameters, leading to a chronic inflammatory state and an increased risk for infectious/inflammatory pathologies, including cardiometabolic, neoplastic, autoimmune and neurodegenerative diseases. Here, we review recent advancements on the immune responses to sleep deprivation as evidenced by experimental and epidemiological studies, the pathophysiology, and the role for the sleep deprivation-induced immune changes in increasing the risk for chronic diseases. Gaps in knowledge and methodological pitfalls still remain. Further understan...

Journal of Neuroinflammation

Background This article presents the first detailed analysis of the prevalence and disability bur... more Background This article presents the first detailed analysis of the prevalence and disability burden of Guillain–Barré syndrome (GBS) from 1990 to 2019 by cause, age, sex, and Socio-demographic Index (SDI) in 204 countries and territories. Methods Data from the Global Burden of Diseases Study (GBD) 2019 were used. GBD 2019 modelled the prevalence of GBS using hospital and claims data. Years lived with disability (YLDs) were estimated as the product of the GBS prevalence and the disability weight. This article also reported proportions in the age-standardised prevalence rate that were due to six underlying causes of GBS. Results In 2019, there were 150,095 [95% uncertainty intervals (UI) 119,924 to 188,309] total cases of GBS worldwide, which resulted in 44,407 (95% UI 28,016 to 64,777) YLDs. Globally, there was a 6.4% (95% UI 3.6 to 9.5) increase in the age-standardised prevalence of GBS per 100,000 population between 1990 and 2019. High-income Asia Pacific [1.9 (95% UI: 1.5 to 2.4)...

Frontiers in Human Neuroscience

Background: Benzodiazepines have been widely used in clinical practice for over four decades and ... more Background: Benzodiazepines have been widely used in clinical practice for over four decades and continue to be one of the most consumed and highly prescribed class of drugs available in the treatment of anxiety, depression, and insomnia. The literature indicates that Benzodiazepine users at a significantly increased risk of Motor Vehicle accidents compared to non-users but the impact on injuries at workplace is not well-defined. We aimed to investigate whether use of benzodiazepine is associated with increased risk of occupational injuries (OI).Methods: PubMed, Embase, and Scopus databases were searched. A meta-analysis was performed to calculate odds ratio (OR) and 95% confidence interval (CI) among case controls, cross-sectional studies, either questionnaire or laboratory exams based.Results: A total of 13 studies met inclusion criteria, involving 324,168 OI from seven different countries, with an estimated occurrence of benzodiazepine positivity of 2.71% (95% CI 1.45–4.98). A to...

Journal of Neurology, Neurosurgery & Psychiatry

ObjectiveTo validate sphingomyelin (SM) dosage in the cerebrospinal fluid (CSF) of patients affec... more ObjectiveTo validate sphingomyelin (SM) dosage in the cerebrospinal fluid (CSF) of patients affected by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Guillain-Barré syndrome (GBS) as a reliably assessable biomarker.MethodsWe prospectively enrolled 184 patients from six Italian referral centres, in whom CSF SM levels were quantified by a fluorescence-based assay optimised and patented in our laboratory.ResultsWe confirmed increased levels of SM in the CSF of patients affected by typical CIDP (n=35), atypical CIDP (n=18) and acute inflammatory demyelinating polyradiculoneuropathy, AIDP (n=12) compared with patients affected by non-demyelinating neurological diseases, used as controls (n=85) (p<0.0001, p=0.0065 and p<0.0001, respectively). In patients with CIDP classified for disease stage, SM was higher in active CIDP compared with both controls and stable CIDP (p<0.0001), applying for a selective tool to treatment tailoring or withdrawal. SM was also i...

Frontiers in Human Neuroscience

A case of recurrent coronavirus disease 2019 (COVID-19) with neurovestibular symptoms was reporte... more A case of recurrent coronavirus disease 2019 (COVID-19) with neurovestibular symptoms was reported. In March 2020, a physician working in an Italian pediatric hospital had flu-like symptoms with anosmia and dysgeusia, and following a reverse transcription PCR (RT/PCR) test with a nasopharyngeal swab tested positive for SARS-CoV-2. After home quarantine, 21 days from the beginning of the symptoms, the patient tested negative in two subsequent swabs and was declared healed and readmitted to work. Serological testing showed a low level of immunoglobulin G (IgG) antibody title and absence of immunoglobulin M (IgM). However, 2 weeks later, before resuming work, the patient complained of acute vestibular syndrome, and the RT/PCR test with mucosal swab turned positive. On the basis of the literature examined and reviewed for recurrence cases and vestibular symptoms during COVID-19, to our knowledge this case is the first case of recurrence with vestibular impairment as a neurological sympt...

Frontiers in Neurology

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal/Child Sciences, ... more Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal/Child Sciences, Polyclinic Hospital San Martino Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Genova, Genova, Italy, Department of Diagnostics and Applied Technology, Neurophysiopathology Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Neurologico Carlo Besta, Milan, Italy, 3 Laboratory for Industrial and Applied Mathematics, Department of Mathematics and Statistics, York University, Toronto, ON, Canada, National Research Council, Institute of Clinical Physiology, Lecce, Italy

Sports

Ramadan observance is characterized by several changes in behaviors, such as food and sleep, whic... more 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). Measures included the digit cancellation test (attention estimation), the profile of mood state (POMS), and the Hooper questionnaires. After a 5-min standard warm-up, participants performed the 5mSRT (6 × 30 s with 35 s in between; best distance (BD), total distance (TD), and fatigue index (FI) were recorded), along with the rating of perceived exertio...

International Journal of Environmental Research and Public Health

Restless legs syndrome is a common but still underdiagnosed neurologic disorder, characterized by... more 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. Moreover, the pathophysiology of this disorder offers an interesting example of interaction between genetics and the environment, considering strong iron metabolism involvement and its interaction with recognized individual genetic factors. Therefor...

International Journal of Environmental Research and Public Health

Medicine and healthcare professions are prestigious and valued careers and, at the same time, dem... more Medicine and healthcare professions are prestigious and valued careers and, at the same time, demanding, challenging, and arduous jobs. Medical and allied health professions students, experiencing a stressful academic and clinical workload, may suffer from sleep disturbances. In Iran, several studies have been conducted to explore the prevalence rate among medical and healthcare professions students. The aim of this systematic review and meta-analysis was to quantitatively and rigorously summarize the existing scholarly literature, providing the decision- and policy-makers and educators with an updated, evidence-based synthesis. Only studies utilizing a reliable psychometric instrument, such as the Pittsburgh sleep quality index (PSQI), were included, in order to have comparable measurements and estimates. Seventeen investigations were retained in the present systematic review and meta-analysis, totaling a sample of 3586 students. Studies were conducted between 2008 and 2018 and rep...

Neurology

Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant b... more Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

Neurobiology of Disease

Elastin microfibril interface-located proteins (EMILINs) are extracellular matrix glycoproteins i... more Elastin microfibril interface-located proteins (EMILINs) are extracellular matrix glycoproteins implicated in elastogenesis and cell proliferation. Recently, a missense mutation in the EMILIN1 gene has been associated with autosomal dominant connective tissue disorder and motor-sensory neuropathy in a single family. We identified by whole exome sequencing a novel heterozygous EMILIN1 mutation c.748C>T [p.R250C] located in the coiled coil forming region of the protein, in four affected members of an autosomal dominant family presenting a distal motor neuropathy phenotype. In affected patient a sensory nerve biopsy showed slight and unspecific changes in the number and morphology of myelinated fibers. Immunofluorescence study of a motor nerve within a muscle biopsy documented the presence of EMILIN-1 in nerve structures. Skin section and skin derived fibroblasts displayed a reduced extracellular deposition of EMILIN-1 protein with a disorganized network of poorly ramified fibers in comparison with controls. Downregulation of emilin1a in zebrafish displayed developmental delay, locomotion defects, and abnormal axonal arborization from spinal cord motor neurons. The phenotype was complemented by wild-type zebrafish emilin1a, and partially the human wild-type EMILIN1 cRNA, but not by the cRNA harboring the novel c.748C>T [p.R250C]. These data suggest a role of EMILIN-1 in the pathogenesis of diseases affecting the peripheral nervous system.

Multiple Sclerosis and Related Disorders

BACKGROUND recent studies reported that anti myelin oligodendrocyte glycoprotein (MOG) antibody (... more BACKGROUND recent studies reported that anti myelin oligodendrocyte glycoprotein (MOG) antibody (ab) related optic neuritis (ON) tend to have characteristics that differ from seronegative ones. The aim of our study was to investigate the clinical characteristics of pediatric anti-MOG ON by comparing anti MOG-ab-seropositive and seronegative patients with ON. METHODS in this retrospective Italian multicentre study, participants were identified by chart review of patients evaluated for acquired demyelinating syndromes of the central nervous system (over the period 2009-2019). We selected patients presenting with ON as their first demyelinating event. Inclusion criteria were age < 18 years at symptoms onset; presentation consistent with ON; negativity of anti-aquaporin 4 antibodies (AQP4). Only patients who were tested for MOG-IgG1-ab with a live cell-based assay were included. RESULTS 22 patients (10 MOG-ab-positive and 12 MOG-ab-negative) were included. Fundus oculi examination at onset showed disc swelling in 9/10 in the MOG-ab-positive cohort and 2/10 in the seronegative group (P = 0.002). Retinal Fiber Nerve Layer (RFNL) thickness measured by Spectral Domain Optical Coherence Tomography (S-OCT) was increased in the 5/5 MOG-ab-positive patients tested and was normal or reduced in the seronegative patients tested (4/4 patients) (P = 0.024). Visual acuity impairment at onset did not differ significantly between the two groups, but the MOG-ab-positive cohort showed better recovery at follow-up both regarding visual acuity (P = 0.025) and expanded disability status scale (EDSS) (P = 0.013). A final diagnosis of MS was frequent among seronegative patients (6/12, 50%), whereas none of the MOG-ab-positive group received a diagnosis of MS (P = 0.015). Clinical relapse frequency was low in both groups: 2/10 MOG-ab-positive and 2/12 seronegative cases relapsed, with a median follow up of 25 months. CONCLUSION optic disc swelling and increased RFNL at baseline are strongly associated with MOG-ab positivity. MOG-ab-positive patients with ON showed better recovery compared to the seronegative ones. The relapse rate was low and did not differ among the two groups.

Pediatric Neurology

BACKGROUND Anti-N-methyl-d-aspartate receptor encephalitis is a central nervous system inflammato... more BACKGROUND Anti-N-methyl-d-aspartate receptor encephalitis is a central nervous system inflammatory autoimmune disease affecting adults and children. The use of first- and second-line immunotherapies is supported. Recent reports suggest the efficacy of bortezomib in severe anti-N-methyl-d-aspartate encephalitis in adult patients not responsive to second-line treatment; there are no data about pediatric patients. PATIENT DESCRIPTION We describe an eight-year-old child with anti-N-methyl-d-aspartate encephalitis not responsive to first- and second-line treatments who experienced marked clinical improvement after bortezomib administration. DISCUSSION Bortezomib is a selective and reversible inhibitor of the 26S proteasome, which is used to treat oncologic and rare autoimmune disorders in pediatric patients. As observed in adult patients, bortezomib administration induced anti-N-methyl-d-aspartate antibody titer decline and clinical improvement with an acceptable risk profile. CONCLUSION This is the first report of the use of bortezomib in children with anti-N-methyl-d-aspartate encephalitis; it could be a useful therapeutic option in children with refractory anti-N-methyl-d-aspartate encephalitis.

Child's Nervous System

PurposeDescribe presentation and management of Chiari type 1 malformation. We report our surgical... more PurposeDescribe presentation and management of Chiari type 1 malformation. We report our surgical case series proposing a decision making scheme for helping surgeons decide which surgical procedure to perform and when.MethodsWe retrospectively examined a series of surgically treated patients with Chiari type 1 malformation. Treatment of associated anomalies, surgical complications, and need for reintervention for insufficient decompression at first surgery are discussed.ResultsA total of 172 patients have been surgically treated for Chiari type 1 malformation at the Neurosurgery Unit of IRCCS Giannina Gaslini Children Hospital of Genoa, Italy, in a period between 2006 and 2017. The first treatment addressing Chiari type 1 malformation was bone and ligamentous decompression alone in 104 patients (65%), associated with dural delamination in 3 patients (1.9%) and associated with duraplasty with autologous graft in 53 patients (33.1%). Postoperative complications occurred in 5 patients (2.9%). Reintervention for insufficient decompression at follow-up was needed in 6 patients (3.5%).ConclusionsSurgical decompression of the posterior cranial fossa (PCF) is indicated in symptomatic patients while asymptomatic patients must be followed in a wait and see fashion. Different types of surgical decompression of different invasiveness have been proposed from only bone and ligamentous decompression to coagulation of cerebellar tonsils. Intraoperative ultrasonography is a useful tool to define when a decompression is sufficient. We did not find correlation between the need for reintervention for insufficient decompression and different invasiveness of the techniques. We believe that this finding suggests that our proposed scheme leads to the best tailored treatment for the single patient.

Journal of Psychophysiology, 2020

Abstract. Circadian mechanisms and the sleep-wakefulness rhythms guarantee survival, adaptation, ... more Abstract. Circadian mechanisms and the sleep-wakefulness rhythms guarantee survival, adaptation, efficient action in everyday life or in emergencies and well-being. Disordered circadian processes a...

Objective: To assess whether a slackline intervention program improves postural control in childr... more Objective: To assess whether a slackline intervention program improves postural control in children/adolescents with spastic cerebral palsy (CP). Design: Randomized controlled trial. Setting: Patients' association. Participants: Twenty-seven children/ adolescents with spastic CP (9-16 years) were randomly assigned to a slackline intervention (n = 14, 13 ± 3 years) or control group (n = 13, 12 ± 2 years). Intervention: Three slackline sessions per week (30 min/session) for 6 weeks. Main outcome measures: The primary outcome was static posturography (center of pressure-CoP-parameters). The secondary outcomes were surface myoelectrical activity of the lower-limb muscles during the posturography test and jump performance (countermovement jump test and Abalakov test). Overall (RPE, >6-20 scale) rating of perceived exertion was recorded at the end of each intervention session. Results: The intervention was perceived as "very light" (RPE = 7.6 ± 0.6). The intervention yiel...

Background and objectives Nonsuicidal self-injury (NSSI) is most common in adolescent populations... more Background and objectives Nonsuicidal self-injury (NSSI) is most common in adolescent populations whose prevalence is continuously increasing. The underlying neurobiology of NSSI and pain processing has not yet sufficiently understood. Alterations of the sensory processing and modulation could explain the emotional dysregulation. We investigated the clinical usefulness of short and longlatency somatosensory evoked potentials (Sh and LL-SSEPs) as indirect evaluation of sensory processing characteristics, compared to psychological, sensory and behavioural measures in adolescents with NSSI. Methods A group of 12 patients with NSSI and a control group comprised 9 patients with other psychopathological disorders without NSSI were investigated with the Self Harm subscale of the Risk-Taking and Self-Harm Inventory for Adolescents, the Italian form of assessment of self-injurious behaviour, the Adult/Adolescent the Sensory Profile (SP), an Italian a self-report psychiatric scale for childre...

Communications Biology

Modern societies are experiencing an increasing trend of reduced sleep duration, with nocturnal s... more Modern societies are experiencing an increasing trend of reduced sleep duration, with nocturnal sleeping time below the recommended ranges for health. Epidemiological and laboratory studies have demonstrated detrimental effects of sleep deprivation on health. Sleep exerts an immune-supportive function, promoting host defense against infection and inflammatory insults. Sleep deprivation has been associated with alterations of innate and adaptive immune parameters, leading to a chronic inflammatory state and an increased risk for infectious/inflammatory pathologies, including cardiometabolic, neoplastic, autoimmune and neurodegenerative diseases. Here, we review recent advancements on the immune responses to sleep deprivation as evidenced by experimental and epidemiological studies, the pathophysiology, and the role for the sleep deprivation-induced immune changes in increasing the risk for chronic diseases. Gaps in knowledge and methodological pitfalls still remain. Further understan...

Journal of Neuroinflammation

Background This article presents the first detailed analysis of the prevalence and disability bur... more Background This article presents the first detailed analysis of the prevalence and disability burden of Guillain–Barré syndrome (GBS) from 1990 to 2019 by cause, age, sex, and Socio-demographic Index (SDI) in 204 countries and territories. Methods Data from the Global Burden of Diseases Study (GBD) 2019 were used. GBD 2019 modelled the prevalence of GBS using hospital and claims data. Years lived with disability (YLDs) were estimated as the product of the GBS prevalence and the disability weight. This article also reported proportions in the age-standardised prevalence rate that were due to six underlying causes of GBS. Results In 2019, there were 150,095 [95% uncertainty intervals (UI) 119,924 to 188,309] total cases of GBS worldwide, which resulted in 44,407 (95% UI 28,016 to 64,777) YLDs. Globally, there was a 6.4% (95% UI 3.6 to 9.5) increase in the age-standardised prevalence of GBS per 100,000 population between 1990 and 2019. High-income Asia Pacific [1.9 (95% UI: 1.5 to 2.4)...

Frontiers in Human Neuroscience

Background: Benzodiazepines have been widely used in clinical practice for over four decades and ... more Background: Benzodiazepines have been widely used in clinical practice for over four decades and continue to be one of the most consumed and highly prescribed class of drugs available in the treatment of anxiety, depression, and insomnia. The literature indicates that Benzodiazepine users at a significantly increased risk of Motor Vehicle accidents compared to non-users but the impact on injuries at workplace is not well-defined. We aimed to investigate whether use of benzodiazepine is associated with increased risk of occupational injuries (OI).Methods: PubMed, Embase, and Scopus databases were searched. A meta-analysis was performed to calculate odds ratio (OR) and 95% confidence interval (CI) among case controls, cross-sectional studies, either questionnaire or laboratory exams based.Results: A total of 13 studies met inclusion criteria, involving 324,168 OI from seven different countries, with an estimated occurrence of benzodiazepine positivity of 2.71% (95% CI 1.45–4.98). A to...

Journal of Neurology, Neurosurgery & Psychiatry

ObjectiveTo validate sphingomyelin (SM) dosage in the cerebrospinal fluid (CSF) of patients affec... more ObjectiveTo validate sphingomyelin (SM) dosage in the cerebrospinal fluid (CSF) of patients affected by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Guillain-Barré syndrome (GBS) as a reliably assessable biomarker.MethodsWe prospectively enrolled 184 patients from six Italian referral centres, in whom CSF SM levels were quantified by a fluorescence-based assay optimised and patented in our laboratory.ResultsWe confirmed increased levels of SM in the CSF of patients affected by typical CIDP (n=35), atypical CIDP (n=18) and acute inflammatory demyelinating polyradiculoneuropathy, AIDP (n=12) compared with patients affected by non-demyelinating neurological diseases, used as controls (n=85) (p<0.0001, p=0.0065 and p<0.0001, respectively). In patients with CIDP classified for disease stage, SM was higher in active CIDP compared with both controls and stable CIDP (p<0.0001), applying for a selective tool to treatment tailoring or withdrawal. SM was also i...

Frontiers in Human Neuroscience

A case of recurrent coronavirus disease 2019 (COVID-19) with neurovestibular symptoms was reporte... more A case of recurrent coronavirus disease 2019 (COVID-19) with neurovestibular symptoms was reported. In March 2020, a physician working in an Italian pediatric hospital had flu-like symptoms with anosmia and dysgeusia, and following a reverse transcription PCR (RT/PCR) test with a nasopharyngeal swab tested positive for SARS-CoV-2. After home quarantine, 21 days from the beginning of the symptoms, the patient tested negative in two subsequent swabs and was declared healed and readmitted to work. Serological testing showed a low level of immunoglobulin G (IgG) antibody title and absence of immunoglobulin M (IgM). However, 2 weeks later, before resuming work, the patient complained of acute vestibular syndrome, and the RT/PCR test with mucosal swab turned positive. On the basis of the literature examined and reviewed for recurrence cases and vestibular symptoms during COVID-19, to our knowledge this case is the first case of recurrence with vestibular impairment as a neurological sympt...

Frontiers in Neurology

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal/Child Sciences, ... more Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal/Child Sciences, Polyclinic Hospital San Martino Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Genova, Genova, Italy, Department of Diagnostics and Applied Technology, Neurophysiopathology Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Neurologico Carlo Besta, Milan, Italy, 3 Laboratory for Industrial and Applied Mathematics, Department of Mathematics and Statistics, York University, Toronto, ON, Canada, National Research Council, Institute of Clinical Physiology, Lecce, Italy

Sports

Ramadan observance is characterized by several changes in behaviors, such as food and sleep, whic... more 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). Measures included the digit cancellation test (attention estimation), the profile of mood state (POMS), and the Hooper questionnaires. After a 5-min standard warm-up, participants performed the 5mSRT (6 × 30 s with 35 s in between; best distance (BD), total distance (TD), and fatigue index (FI) were recorded), along with the rating of perceived exertio...

International Journal of Environmental Research and Public Health

Restless legs syndrome is a common but still underdiagnosed neurologic disorder, characterized by... more 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. Moreover, the pathophysiology of this disorder offers an interesting example of interaction between genetics and the environment, considering strong iron metabolism involvement and its interaction with recognized individual genetic factors. Therefor...

International Journal of Environmental Research and Public Health

Medicine and healthcare professions are prestigious and valued careers and, at the same time, dem... more Medicine and healthcare professions are prestigious and valued careers and, at the same time, demanding, challenging, and arduous jobs. Medical and allied health professions students, experiencing a stressful academic and clinical workload, may suffer from sleep disturbances. In Iran, several studies have been conducted to explore the prevalence rate among medical and healthcare professions students. The aim of this systematic review and meta-analysis was to quantitatively and rigorously summarize the existing scholarly literature, providing the decision- and policy-makers and educators with an updated, evidence-based synthesis. Only studies utilizing a reliable psychometric instrument, such as the Pittsburgh sleep quality index (PSQI), were included, in order to have comparable measurements and estimates. Seventeen investigations were retained in the present systematic review and meta-analysis, totaling a sample of 3586 students. Studies were conducted between 2008 and 2018 and rep...

Neurology

Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant b... more Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

Neurobiology of Disease

Elastin microfibril interface-located proteins (EMILINs) are extracellular matrix glycoproteins i... more Elastin microfibril interface-located proteins (EMILINs) are extracellular matrix glycoproteins implicated in elastogenesis and cell proliferation. Recently, a missense mutation in the EMILIN1 gene has been associated with autosomal dominant connective tissue disorder and motor-sensory neuropathy in a single family. We identified by whole exome sequencing a novel heterozygous EMILIN1 mutation c.748C>T [p.R250C] located in the coiled coil forming region of the protein, in four affected members of an autosomal dominant family presenting a distal motor neuropathy phenotype. In affected patient a sensory nerve biopsy showed slight and unspecific changes in the number and morphology of myelinated fibers. Immunofluorescence study of a motor nerve within a muscle biopsy documented the presence of EMILIN-1 in nerve structures. Skin section and skin derived fibroblasts displayed a reduced extracellular deposition of EMILIN-1 protein with a disorganized network of poorly ramified fibers in comparison with controls. Downregulation of emilin1a in zebrafish displayed developmental delay, locomotion defects, and abnormal axonal arborization from spinal cord motor neurons. The phenotype was complemented by wild-type zebrafish emilin1a, and partially the human wild-type EMILIN1 cRNA, but not by the cRNA harboring the novel c.748C>T [p.R250C]. These data suggest a role of EMILIN-1 in the pathogenesis of diseases affecting the peripheral nervous system.

Multiple Sclerosis and Related Disorders

BACKGROUND recent studies reported that anti myelin oligodendrocyte glycoprotein (MOG) antibody (... more BACKGROUND recent studies reported that anti myelin oligodendrocyte glycoprotein (MOG) antibody (ab) related optic neuritis (ON) tend to have characteristics that differ from seronegative ones. The aim of our study was to investigate the clinical characteristics of pediatric anti-MOG ON by comparing anti MOG-ab-seropositive and seronegative patients with ON. METHODS in this retrospective Italian multicentre study, participants were identified by chart review of patients evaluated for acquired demyelinating syndromes of the central nervous system (over the period 2009-2019). We selected patients presenting with ON as their first demyelinating event. Inclusion criteria were age < 18 years at symptoms onset; presentation consistent with ON; negativity of anti-aquaporin 4 antibodies (AQP4). Only patients who were tested for MOG-IgG1-ab with a live cell-based assay were included. RESULTS 22 patients (10 MOG-ab-positive and 12 MOG-ab-negative) were included. Fundus oculi examination at onset showed disc swelling in 9/10 in the MOG-ab-positive cohort and 2/10 in the seronegative group (P = 0.002). Retinal Fiber Nerve Layer (RFNL) thickness measured by Spectral Domain Optical Coherence Tomography (S-OCT) was increased in the 5/5 MOG-ab-positive patients tested and was normal or reduced in the seronegative patients tested (4/4 patients) (P = 0.024). Visual acuity impairment at onset did not differ significantly between the two groups, but the MOG-ab-positive cohort showed better recovery at follow-up both regarding visual acuity (P = 0.025) and expanded disability status scale (EDSS) (P = 0.013). A final diagnosis of MS was frequent among seronegative patients (6/12, 50%), whereas none of the MOG-ab-positive group received a diagnosis of MS (P = 0.015). Clinical relapse frequency was low in both groups: 2/10 MOG-ab-positive and 2/12 seronegative cases relapsed, with a median follow up of 25 months. CONCLUSION optic disc swelling and increased RFNL at baseline are strongly associated with MOG-ab positivity. MOG-ab-positive patients with ON showed better recovery compared to the seronegative ones. The relapse rate was low and did not differ among the two groups.

Pediatric Neurology

BACKGROUND Anti-N-methyl-d-aspartate receptor encephalitis is a central nervous system inflammato... more BACKGROUND Anti-N-methyl-d-aspartate receptor encephalitis is a central nervous system inflammatory autoimmune disease affecting adults and children. The use of first- and second-line immunotherapies is supported. Recent reports suggest the efficacy of bortezomib in severe anti-N-methyl-d-aspartate encephalitis in adult patients not responsive to second-line treatment; there are no data about pediatric patients. PATIENT DESCRIPTION We describe an eight-year-old child with anti-N-methyl-d-aspartate encephalitis not responsive to first- and second-line treatments who experienced marked clinical improvement after bortezomib administration. DISCUSSION Bortezomib is a selective and reversible inhibitor of the 26S proteasome, which is used to treat oncologic and rare autoimmune disorders in pediatric patients. As observed in adult patients, bortezomib administration induced anti-N-methyl-d-aspartate antibody titer decline and clinical improvement with an acceptable risk profile. CONCLUSION This is the first report of the use of bortezomib in children with anti-N-methyl-d-aspartate encephalitis; it could be a useful therapeutic option in children with refractory anti-N-methyl-d-aspartate encephalitis.

Child's Nervous System

PurposeDescribe presentation and management of Chiari type 1 malformation. We report our surgical... more PurposeDescribe presentation and management of Chiari type 1 malformation. We report our surgical case series proposing a decision making scheme for helping surgeons decide which surgical procedure to perform and when.MethodsWe retrospectively examined a series of surgically treated patients with Chiari type 1 malformation. Treatment of associated anomalies, surgical complications, and need for reintervention for insufficient decompression at first surgery are discussed.ResultsA total of 172 patients have been surgically treated for Chiari type 1 malformation at the Neurosurgery Unit of IRCCS Giannina Gaslini Children Hospital of Genoa, Italy, in a period between 2006 and 2017. The first treatment addressing Chiari type 1 malformation was bone and ligamentous decompression alone in 104 patients (65%), associated with dural delamination in 3 patients (1.9%) and associated with duraplasty with autologous graft in 53 patients (33.1%). Postoperative complications occurred in 5 patients (2.9%). Reintervention for insufficient decompression at follow-up was needed in 6 patients (3.5%).ConclusionsSurgical decompression of the posterior cranial fossa (PCF) is indicated in symptomatic patients while asymptomatic patients must be followed in a wait and see fashion. Different types of surgical decompression of different invasiveness have been proposed from only bone and ligamentous decompression to coagulation of cerebellar tonsils. Intraoperative ultrasonography is a useful tool to define when a decompression is sufficient. We did not find correlation between the need for reintervention for insufficient decompression and different invasiveness of the techniques. We believe that this finding suggests that our proposed scheme leads to the best tailored treatment for the single patient.