Long-term follow-up of nutritional status in children with GLUT1 Deficiency Syndrome treated with classic ketogenic diet: a 5-year prospective study.

Introduction: The classic ketogenic diet (cKD) is an isocaloric, high fat, low-carbohydrate diet that induces the production of ketone bodies. High consumption of dietary fatty acids, particularly long-chain saturated fatty acids, could impair nutritional status and increase cardiovascular risk. The purpose of this study was to evaluate the long-term effects of a 5-year cKD on body composition, resting energy expenditure, and biochemical parameters in children affected by Glucose Transporter 1 Deficiency Syndrome (GLUT1DS).

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.

A cross-sectional survey among physicians on internet use for epilepsy-related information.

Objective: We investigated views towards the Internet in a sample of Italian healthcare specialists involved in epilepsy field, to identify factors associated with the attitude of being influenced by information found on the Internet.

Methods: This study was a self-administered survey conducted in a group of members of the Italian Chapter of the International League Against Epilepsy (ILAE) in January 2018.

Results: 184 questionnaires were analyzed.

Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis.

Background/objectives: Glucose Transporter 1 Deficiency Syndrome (GLUT1-DS; OMIM #606777) is a rare disease caused by dominant mutations in SLC2A1 encoding GLUT1, which is a ubiquitous transporter of glucose across plasma membranes, particularly across the blood-brain barrier. Hypoglycorrhachia symptoms are the cornerstones of GLUT1-DS, but delayed growth has also been suggested. This led us to investigate, at diagnosis, the relationship between the glycemia/glycorrhachia ratio and the nutritional and growth pattern phenotype of 30 GLUT-DS patients.

Virtual Reality Social Prediction Improvement and Rehabilitation Intensive Training (VR-SPIRIT) for paediatric patients with congenital cerebellar diseases: study protocol of a randomised controlled trial.

Background: Patients with cerebellar malformations exhibit not only movement problems, but also important deficits in social cognition. Thus, rehabilitation approaches should not only involve the recovery of motor function but also of higher-order abilities such as processing of social stimuli. In keeping with the general role of the cerebellum in anticipating and predicting events, we used a VR-based rehabilitation system to implement a social cognition intensive training specifically tailored to improve predictive abilities in social scenarios (VR-Spirit).

The spectrum of intermediate SCN8A-related epilepsy.

Objective: Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID) or movement disorders without epilepsy have been reported. The vast majority of the published SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE).

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome.

Introduction: Glucose Transporter Type I Deficiency Syndrome (GLUT1DS) classical symptoms are seizures, involuntary movements, and cognitive impairment but so far the literature has not devoted much attention to the last.

Methods: In our retrospective study involving 25 patients with established GLUT1DS diagnosis, we describe the cognitive impairment of these patients in detail and their response to the ketogenic diet in terms of cognitive improvement.

Results: We outlined a specific cognitive profile where performance skills were more affected than verbal ones, with prominent deficiencies in visuospatial and visuomotor abilities.

The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL.

Methods: Patients with lacunar stroke or TIA were included in the present study.

The phenotype of developmental and epileptic encephalopathy.

Objective: To delineate the electroclinical features of infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).

Methods: Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.

Results: Sixteen of 22 patients had mildly delayed development since birth.

Diazepam as an oral hypnotic increases nocturnal blood pressure in the elderly.

Background: No study has evaluated the cardiovascular effects of diazepam in elderly subjects that assume diazepam to induce sleep.

Purpose: The present study was carried out in order to evaluate the effects of chronic administration of diazepam as hypnotic drug on blood pressure (BP) and heart rate (HR) in healthy elderly subjects.

Patients And Methods: Healthy, elderly subjects, aged 65-74 years, were treated with diazepam 5 mg or placebo-both administered once a day in the evening-for 4 weeks in two cross-over periods, each separated by a 2-week placebo period, according to a randomized, double-blind, cross-over design.

Effect of flunitrazepam as an oral hypnotic on 24-hour blood pressure in healthy volunteers.

Purpose: The present study was carried out in order to assess the effects of chronic administration of flunitrazepam (as an oral hypnotic) on 24-h blood pressure (BP) and heart rate (HR) in healthy young adults.

Materials And Methods: Following a 2-week placebo run-in period, 28 healthy volunteers (13 males and 15 females) between 21 and 30 years were randomized to receive either flunitrazepam 1 mg or placebo (both administered once a day in the evening) for 4 weeks in two cross-over periods; each separated by a 2-week placebo period. At the end of each study period, non-invasive 24-h BP and HR ambulatory monitoring was performed.

Spasmodic Dysphonia in Multiple Sclerosis Treatment With Botulin Toxin A: A Pilot Study.

Objectives: This study aims to evaluate the effect of botulin toxin A in patients with multiple sclerosis (MS) affected by spasmodic dysphonia (SD) and to show the safety and effectiveness of this treatment in long-term observation.

Materials And Methods: This is a pilot study on three relapsing-remitting MS patients with SD and their response to botulin toxin A.

Results: None of the patients reported dysphagia or other adverse events.

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

Background: KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment.

Ketogenic diet use in children with intractable epilepsy secondary to malformations of cortical development: A two- centre experience.

Purpose: To evaluate the efficacy and tolerability of the ketogenic diet (KD) as a treatment for drug-resistant epilepsy secondary to malformations of cortical development.

Methods: A two-centre retrospective analysis of 45 paediatric patients with refractory epilepsy due to malformation of cortical development was carried out. Patients were divided into three groups based on malformation type: abnormal neural proliferation (Group 1); abnormal neural migration (Group 2) and abnormal post-migrational development (Group 3).

Italian Wikipedia and epilepsy: An infodemiological study of online information-seeking behavior.

Wikipedia is the most commonly accessed source of health information by both healthcare professionals and the lay public worldwide. We aimed to evaluate information-seeking behavior of Internet users searching the Italian Wikipedia for articles related to epilepsy and its treatment. Using Pageviews Analysis, we assessed the total and mean monthly views of articles from the Italian Wikipedia devoted to epilepsy, epileptic syndromes, seizure type, and antiepileptic drugs (AEDs) from January 1, 2015 to October 31, 2017.

Effect of Diazepam on 24-Hour Blood Pressure and Heart Rate in Healthy Young Volunteers.

Aim: To assess the effects of evening chronic administration of diazepam on 24-h blood pressure (BP) and heart rate (HR) in healthy young adults.

Methods: This randomized double blind, cross-over study evaluated the effects of diazepam 5 mg or placebo, both ingested in the evening, on 24-h ambulatory BP and HR in healthy subjects aged 21-30.

Results: A total of 30 subjects were included in the analysis.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations.

Predictors of outcome in a large retrospective cohort of patients with transverse myelitis.

Background: Transverse myelitis (TM) is an inflammatory disorder that can be idiopathic or associated with central nervous system autoimmune/dysimmune inflammatory diseases, connective tissue autoimmune diseases, or post-infectious neurological syndromes. Prognosis of initial TM presentations is uncertain.

Objective: To identify outcome predictors in TM.

Seven tesla MRI of the substantia nigra in patients with rapid eye movement sleep behavior disorder.

Introduction: Susceptibility-weighted imaging of the substantia nigra (SN) both at 7 and 3 Tesla (T) has shown high accuracy in distinguishing patients with Parkinson's disease (PD) and healthy subjects (HS). Patients with rapid eye movement (REM) behavior disorder (RBD) can develop synucleinopathies, and such risk is higher with dopamine transporter single photon emission tomography (123I-FP-CIT SPECT) evidence of nigro-striatal dysfunction. We aimed at evaluating SN 7T magnetic resonance imaging (7T-MRI) in patients with RBD and determining the agreement between MRI and 123I-FP-CIT SPECT.

Neurobehavioral consequences of continuous spike and waves during slow sleep (CSWS) in a pediatric population: A pattern of developmental hindrance.

Introduction: Continuous spike and waves during slow sleep (CSWS) is a typical EEG pattern defined as diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. Literature results so far point out a progressive deterioration and decline of intellectual functioning in CSWS patients, i.e.

Effect of ramipril/hydrochlorothiazide and ramipril/canrenone combination on atrial fibrillation recurrence in hypertensive type 2 diabetic patients with and without cardiac autonomic neuropathy.

Introduction: The aim of this study was to compare the effect of ramipril/canrenone versus ramipril/hydrochlorothiazide (HCTZ) combination on atrial fibrillation (AF) recurrence in type 2 diabetic hypertensives with and without cardiac autonomic neuropathy (CAN).

Material And Methods: A total of 289 hypertensive type 2 diabetic patients, 95 with CAN, in sinus rhythm but with at least two episodes of AF in the previous 6 months were randomized to ramipril 5 mg plus canrenone 50 mg (titrated to 10/100 mg) or to ramipril 5 mg plus HCTZ 12.5 mg (titrated to 10/25 mg) or to amlodipine 5 mg (titrated to 10 mg) for 1 year.

An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder.

The aim of this retrospective study, with prospective data collection, was to correlate congenital cytomegalovirus (CMV) infection with autism spectrum disorder (ASD) and to define its prevalence. Seventy proven congenitally-infected infants, born between 2007 and 2012, were referred to our centre for CMV diagnosis and follow-up, which consisted of a consolidated protocol allowing an early evaluation of autism. We considered four children 2-year old, two of whom, at the age of 3, were diagnosed with ASD demonstrating a 2-3 fold higher prevalence (2.

Ambulatory 24-h ECG monitoring and cardiovascular autonomic assessment for the screening of silent myocardial ischemia in elderly type 2 diabetic hypertensive patients.

The aim of the study was to evaluate the usefulness of Holter monitoring for the detection of silent myocardial ischemia (SMI) in elderly type 2 diabetic patients with hypertension and the possible relationship between SMI and cardiovascular autonomic neuropathy (CAN). Two hundred and forty-three asymptomatic outpatients, aged 65-75 years, with type 2 diabetes and essential hypertension underwent 24-h ECG monitoring and 5 tests for the evaluation of both parasympathetic (heart rate variability, response to breath deeping, and Valsalva manoeuvre) and sympathetic (cold pressor test and orthostatic hypotension test) autonomic function. A total of 518 asymptomatic episodes of ST depression during Holter monitoring indicative of SMI were detected in 51 of the 243 studied patients (20.

The changing face of dietary therapy for epilepsy.

Unlabelled: Ketogenic diet is an established and effective non-pharmacologic treatment for drug-resistant epilepsy. Ketogenic diet represents the treatment of choice for GLUT-1 deficiency syndrome and pyruvate dehydrogenase complex deficiency. Infantile spasms, Dravet syndrome and myoclonic-astatic epilepsy are epilepsy syndromes for which ketogenic diet should be considered early in the therapeutic pathway.