Large clones of Clonal Hematopoiesis affect outcome in Mantle Cell Lymphoma: Results from The FIL MCL0208 Clinical Trial.

Although recent evidence suggests that myeloid clonal hematopoiesis (M-CH) may influence lymphoma clinical outcome, its impact in mantle cell lymphoma (MCL) remains unclear. Here, we report a comprehensive NGS-based analysis of the M-CH mutational landscape at baseline and follow-up in patients enrolled in the Fondazione Italiana Linfomi (FIL) MCL0208 phase 3 trial (NCT02354313), evaluating lenalidomide maintenance versus observation after chemoimmunotherapy and autologous stem cell transplantation (ASCT) in untreated young MCL patients. Overall, 254/300 (85%) enrolled patients (median age 57 years [32-66]) had a baseline sample available for CH analysis.

Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.

RASopathies are a group of genetic syndromes caused by germline mutations in genes involved in the RAS/Mitogen-Activated Protein Kinase signaling pathway, which regulates cellular proliferation, differentiation, and angiogenesis. Despite their involvement at different levels of this pathway, RASopathies share overlapping clinical phenotypes. Noonan syndrome is the most prevalent RASopathy, with an estimated incidence of 1 in 2500 live births, and it is typically inherited in an autosomal dominant manner, with 50% of cases involving gain-of-function mutations in the PTPN11 gene.

Investigating the impact of the regularization parameter on EEG resting-state source reconstruction and functional connectivity using real and simulated data.

Accurate EEG source localization is crucial for mapping resting-state network dynamics and it plays a key role in estimating source-level functional connectivity. However, EEG source estimation techniques encounter numerous methodological challenges, with a key one being the selection of the regularization parameter in minimum norm estimation. This choice is particularly intricate because the optimal amount of regularization for EEG source estimation may not align with the requirements of EEG connectivity analysis, highlighting a nuanced trade-off.

The impact of ROI extraction method for MEG connectivity estimation: practical recommendations for the study of resting state data.

Magnetoencephalography and electroencephalography (M/EEG) seed-based connectivity analysis requires the extraction of measures from regions of interest (ROI). M/EEG ROI-derived source activity can be treated in different ways. It is possible, for instance, to average each ROI's time series prior to calculating connectivity measures.

Functional seizures and binge eating disorder: A cross-sectional study.

Objective: Functional seizures (FS) are brief, involuntary changes in behaviour or consciousness, distinct from epileptic seizures, potentially associated with psychological dissociation. Binge eating disorder (BED) was linked to psychological and somatic dissociation also. However, any connection between FS and BED is insufficiently explored.

Modern neurophysiological techniques indexing normal or abnormal brain aging.

Brain aging is associated with a decline in cognitive performance, motor function and sensory perception, even in the absence of neurodegeneration. The underlying pathophysiological mechanisms remain incompletely understood, though alterations in neurogenesis, neuronal senescence and synaptic plasticity are implicated. Recent years have seen advancements in neurophysiological techniques such as electroencephalography (EEG), magnetoencephalography (MEG), event-related potentials (ERP) and transcranial magnetic stimulation (TMS), offering insights into physiological and pathological brain aging.

The hidden link between late-onset seizures and cerebral amyloid angiopathy: A case-control study.

Objective: Epileptic seizures occurring in late adulthood often remain of unknown origin. Sporadic cerebral amyloid angiopathy (CAA) is a cerebral small vessel disease characterized by intracerebral hemorrhage, microhemorrhage and superficial siderosis, occurring mostly in elderly. This observational case-control study aimed to assess the occurrence of CAA in patients experiencing their first seizure in late adulthood.

Perampanel in post-stroke epilepsy: Clinical practice data from the PERampanel as Only Concomitant antiseizure medication (PEROC) study.

Introduction: Post-stroke epilepsy (PSE) is one of the most common causes of acquired epilepsy. Nevertheless, there is limited evidence regarding the clinical profile of antiseizure medications (ASMs) in PSE. This study aims to evaluate the 12-month effectiveness and tolerability of perampanel (PER) used as only add-on treatment in patients with PSE in a real-world setting.

The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.

Aim: Biallelic mutations in the PTRH2 gene have been associated with infantile multisystem neurological, endocrine, and pancreatic disease (IMNEPD), a rare autosomal recessive disorder of variable expressivity characterized by global developmental delay, intellectual disability or borderline IQ level, sensorineural hearing loss, ataxia, and pancreatic insufficiency. Various additional features may be included, such as peripheral neuropathy, facial dysmorphism, hypothyroidism, hepatic fibrosis, postnatal microcephaly, cerebellar atrophy, and epilepsy. Here, we report the first Italian family presenting only predominant neurological features.

Additional copies of 1q negatively impact the outcome of multiple myeloma patients and induce transcriptomic deregulation in malignant plasma cells.

Additional copies of chromosome 1 long arm (1q) are frequently found in multiple myeloma (MM) and predict high-risk disease. Available data suggest a different outcome and biology of patients with amplification (Amp1q, ≥4 copies of 1q) vs. gain (Gain1q, 3 copies of 1q) of 1q.

Esophageal food bolus impaction in pediatric age.

Objectives: Esophageal food impaction (EFI) is the sudden onset of dysphagia that occurs when a food bolus becomes lodged in the esophagus, requiring endoscopic removal. Scientific data on the prevalence and causes of EFI in children is lacking. The aim of this study was to provide further insights into EFI episodes in children.

A real-world retrospective-prospective analysis of efficacy and safety of combined ixazomib, lenalidomide, and dexamethasone in relapsed/refractory multiple myeloma: The northern Italy experience.

Introduction: Ixazomib, lenalidomide, and dexamethasone (IRd) have been approved for the treatment of relapsed/refractory multiple myeloma (RRMM) based on the results of the TOURMALINE-MM1.

Objectives And Methods: We conducted a retrospective-prospective analysis of 106 RRMM patients (pts) treated with IRd in 21 centers in Northern Italy, with the aim to evaluate the efficacy and safety of IRd in real life.

Results: At IRd initiation, 34% of pts were aged ≥75 (median 72.

The SESAMEEG package: a probabilistic tool for source localization and uncertainty quantification in M/EEG.

Source localization from M/EEG data is a fundamental step in many analysis pipelines, including those aiming at clinical applications such as the pre-surgical evaluation in epilepsy. Among the many available source localization algorithms, SESAME (SEquential SemiAnalytic Montecarlo Estimator) is a Bayesian method that distinguishes itself for several good reasons: it is highly accurate in localizing focal sources with comparably little sensitivity to input parameters; it allows the quantification of the uncertainty of the reconstructed source(s); it accepts user-defined high- and low-probability search regions in input; it can localize the generators of neural oscillations in the frequency domain. Both a Python and a MATLAB implementation of SESAME are available as open-source packages under the name of SESAMEEG and are well integrated with the main software packages used by the M/EEG community; moreover, the algorithm is part of the commercial software BESA Research (from version 7.

On propagation in networks, promising models beyond network diffusion to describe degenerative brain diseases and traumatic brain injuries.

Connections among neurons form one of the most amazing and effective network in nature. At higher level, also the functional structures of the brain is organized as a network. It is therefore natural to use modern techniques of network analysis to describe the structures of networks in the brain.

Peculiar CADASIL phenotype in monozygotic twins carrying a novel NOTCH3 pathogenetic variant.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominantly inherited cerebral small vessel disease caused by Neurogenic locus notch homolog protein 3 (NOTCH3) gene mutations. The main clinical features include migraine with aura, recurrent ischemic strokes and dementia. Brain MRI typically shows multiple small lacunar infarcts and severe, diffuse, symmetrical white matter hyperintensities (WMHs), with characteristic involvement of the anterior temporal pole, external capsule, and superior frontal gyrus.

Mindfulness meditation styles differently modulate source-level MEG microstate dynamics and complexity.

Background: The investigation of mindfulness meditation practice, classically divided into focused attention meditation (FAM), and open monitoring meditation (OMM) styles, has seen a long tradition of theoretical, affective, neurophysiological and clinical studies. In particular, the high temporal resolution of magnetoencephalography (MEG) or electroencephalography (EEG) has been exploited to fill the gap between the personal experience of meditation practice and its neural correlates. Mounting evidence, in fact, shows that human brain activity is highly dynamic, transiting between different brain states (microstates).

Functional balance at rest of hemispheric homologs assessed via normalized compression distance.

Introduction: The formation and functioning of neural networks hinge critically on the balance between structurally homologous areas in the hemispheres. This balance, reflecting their physiological relationship, is fundamental for learning processes. In our study, we explore this functional homology in the resting state, employing a complexity measure that accounts for the temporal patterns in neurodynamics.

Topiramate ban in women of childbearing potential with idiopathic generalized epilepsy: Does effectiveness offset the teratogenic risks?

Regulatory agencies have recently discouraged the prescription of topiramate (TPM) to women of childbearing potential with epilepsy due to growing evidence of the teratogenic and neurodevelopmental risks associated with its use during pregnancy. It remains, however, unclear whether the use of TPM in this population can be supported to some extent by its high effectiveness. In this multicenter, retrospective, cohort study performed at 22 epilepsy centers, we investigated the comparative effectiveness of TPM and levetiracetam (LEV) given as first-line antiseizure medication in a cohort of women of childbearing potential with idiopathic generalized epilepsy (IGE).