Interim-PET predicts progression-free survival in stage IV Hodgkin lymphoma treated with upfront brentuximab vedotin-AVD.

Brentuximab vedotin (BV) plus doxorubicin, vinblastine and dacarbazine (AVD) demonstrated to improve survival compared to ABVD as frontline treatment of advanced stage Hodgkin Lymphoma (HL). We retrospectively collected data of 99 stage IV HL patients treated off-protocol with BV-AVD to evaluate the predictive role of interim-PET. Median age was 36 years (range: 18-82); 83.

A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different Origins.

Myoclonus has multiple clinical manifestations and heterogeneous generators and etiologies, encompassing a spectrum of disorders and even physiological events. This paper, developed from a teaching course conducted by the Neurophysiology Commission of the Italian League against Epilepsy, aims to delineate the main types of myoclonus, identify potential underlying neurological disorders, outline diagnostic procedures, elucidate pathophysiological mechanisms, and discuss appropriate treatments. Neurophysiological techniques play a crucial role in accurately classifying myoclonic phenomena, by means of simple methods such as EEG plus polymyography (EEG + Polymyography), evoked potentials, examination of long-loop reflexes, and often more complex protocols to study intra-cortical inhibition-facilitation In clinical practice, EEG + Polymyography often represents the first step to identify myoclonus, acquire signals for off-line studies and plan the diagnostic work-up.

Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approach.

Objective: The objective of this study is to report the results of the genetic analysis in a large and well-characterized population with pediatric-onset epilepsies and to identify those who could benefit from precision medicine treatments.

Methods: In this retrospective observational study, we consecutively recruited patients with pediatric-onset epilepsy observed at a tertiary neurological center over a time span of 7 years, collecting clinical and laboratory findings. Following in-depth diagnostic process to exclude possible structural and metabolic causes of the disease, patients with a suspected genetically determined etiology underwent next-generation sequencing (NGS) screening with panels for the analysis of target genes causative of epilepsy.

Assessment and Rehabilitation Intervention of Feeding and Swallowing Skills in Children with Down Syndrome Using the Global Intensive Feeding Therapy (GIFT).

Background: Children with Down syndrome (DS) experience more difficulties with oral motor skills, including chewing, drinking, and swallowing. The present study attempts to measure the preliminary effectiveness of Global Intensive Feeding Therapy (GIFT) in DS. GIFT is a new rehabilitation program addressing the specific difficulties and needs of each child, focusing on sensory and motor oral abilities.

Correlation between autistic traits and brain functional connectivity in preschoolers with autism spectrum disorder: a resting state MEG study.

Background: Neurophysiological studies recognized that Autism Spectrum Disorder (ASD) is associated with altered patterns of over- and under-connectivity. However, little is known about network organization in children with ASD in the early phases of development and its correlation with the severity of core autistic features.

Methods: The present study aimed at investigating the association between brain connectivity derived from MEG signals and severity of ASD traits measured with different diagnostic clinical scales, in a sample of 16 children with ASD aged 2 to 6 years.

Early cortico-muscular coherence and cortical network changes in Parkinson's patients treated with MRgFUS.

Introduction: To investigate cortical network changes using Magnetoencephalography (MEG) signals in Parkinson's disease (PD) patients undergoing Magnetic Resonance-guided Focused Ultrasound (MRgFUS) thalamotomy.

Methods: We evaluated the MEG signals in 16 PD patients with drug-refractory tremor before and after 12-month from MRgFUS unilateral lesion of the ventralis intermediate nucleus (Vim) of the thalamus contralateral to the most affected body side. We recorded patients 24 h before (T0) and 24 h after MRgFUS (T1).

Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.

The development of the cerebral cortex involves a series of dynamic events, including cell proliferation and migration, which rely on the motor protein dynein and its regulators NDE1 and NDEL1. While the loss of function in NDE1 leads to microcephaly-related malformations of cortical development (MCDs), NDEL1 variants have not been detected in MCD patients. Here, we identified two patients with pachygyria, with or without subcortical band heterotopia (SBH), carrying the same de novo somatic mosaic NDEL1 variant, p.

Anatomically compliant modes of variations: New tools for brain connectivity.

Anatomical complexity and data dimensionality present major issues when analysing brain connectivity data. The functional and anatomical aspects of the connections taking place in the brain are in fact equally relevant and strongly intertwined. However, due to theoretical challenges and computational issues, their relationship is often overlooked in neuroscience and clinical research.

The Efficacy of the Global Intensive Feeding Therapy on Feeding and Swallowing Abilities in Children with Autism Spectrum Disorder: A Pilot Study.

The present investigation aims to explore the efficacy of Global Intensive Feeding Therapy (GIFT) on feeding and swallowing abilities in children with autism spectrum disorder (ASD). GIFT was developed as an intensive rehabilitation approach, divided into 30 sessions for 2 weeks, three times a day. GIFT focused on (a) encouraging desensitization; (b) widening the food repertoire (in terms of both variety and quantity); (c) reducing inappropriate mealtime behaviors; and (d) encouraging the development of appropriate chewing and swallowing abilities.

Case report: mutations presenting with isolated absence seizures: description of 2 novel cases.

We report the clinical and EEG data of two patients harboring heterozygous mutations, who presented with typical absence seizures at 3 Hz spike and wave as well as with mild cognitive disability. Neuroradiological and other laboratory investigations were normal. Our observations suggest that mutations can be suspected in children with typical absences as the only seizure type, especially if associated with, even mild, cognitive deficits.

Cortico-muscular coherence and brain networks in familial adult myoclonic epilepsy and progressive myoclonic epilepsy.

Objective: Familial Adult Myoclonic Epilepsy (FAME) presents with action-activated myoclonus, often associated with epilepsy, sharing various features with Progressive Myoclonic Epilepsy (PMEs), but with slower course and limited motor disability. We aimed our study to identify measures suitable to explain the different severity of FAME2 compared to EPM1, the most common PME, and to detect the signature of the distinctive brain networks.

Methods: We analyzed the EEG-EMG coherence (CMC) during segmental motor activity and indexes of connectivity in the two patient groups, and in healthy subjects (HS).

Development and Pilot Study of a Pediatric Screening for Feeding and Swallowing Disorders in Infants and Children: The Pediatric Screening-Priority Evaluation Dysphagia (PS-PED).

Feeding and swallowing disorders (FSD) are common during childhood, with a prevalence of 85% in children with neurodevelopmental disorders. A comprehensive screening is essential to identify FSD and improve health outcomes in a clinical setting. This study aims to develop a new Pediatric Screening tool capable of identifying FSD.

Rhythmic cortical myoclonus in patients with 6Q22.1 deletion.

DNA deletions involving 6q22.1 region result in developmental encephalopathy (DE), often associated with movement disorders and epilepsy. The phenotype is attributed to the loss of the NUS1 gene included in the deleted region.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets, and four copy number variants at exome-wide significance.

IRF2BPL: A new genotype for progressive myoclonus epilepsies.

The progressive myoclonus epilepsies (PMEs) are a heterogeneous group of neurodegenerative disorders, typically presenting in late childhood. An etiologic diagnosis is achieved in about 80% of patients with PME, and genome-wide molecular studies on remaining, well-selected, undiagnosed cases can further dissect the underlying genetic heterogeneity. Through whole-exome sequencing (WES), we identified pathogenic truncating variants in the IRF2BPL gene in two, unrelated patients presenting with PME.

Differential diagnosis of familial adult myoclonic epilepsy.

Objective: Familial adult myoclonic epilepsy (FAME) is an under-recognized disorder characterized by cortical myoclonus, generalized tonic-clonic seizures, and additional clinical symptoms, which vary depending on the FAME subtype. FAME is caused by pentanucleotide repeat expansions of intronic TTTCA/TTTTA in different genes. FAME should be distinguished from a range of differential diagnoses.

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.

Variants of SEMA6B have been identified in an increasing number of patients, often presenting with progressive myoclonus epilepsy (PME), and to lesser extent developmental encephalopathy, with or without epilepsy. The exon 17 is mainly involved, with truncating mutations causing the production of aberrant proteins with toxic gain of function. Herein, we describe three adjunctive patients carrying de novo truncating SEMA6B variants in this exon (c.

Clinical Management of Long-Term Survivors after Classical Hodgkin Lymphoma and Diffuse Large B-Cell Lymphoma.

Compared to other patients suffering from hematological malignancies, classical Hodgkin lymphoma (cHL) and diffuse large B-cell lymphoma (DLBCL) patients have a long life expectancy when in complete remission at the end of first, or sometimes second, line treatments [...

MRI-guided focused-ultrasound thalamotomy in essential tremor: Immediate and delayed changes in cortico-muscular coherence and cortico-cortical out-strength.

Objective: Drug-resistant essential tremor (ET) can be treated by Magnetic-Resonance-guided Focused-Ultrasound (MRgFUS) targeted to thalamic ventralis-intermediate nucleus (ViM). We are presenting the results obtained in ET patients by evaluating the cortico-muscular coherence (CMC) and the out-strength among cortical areas.

Methods: We recorded MEG-EMG signals in 16 patients with predominant tremor on the right upper limb.