Pediatric Neuroimaging of Multiple Sclerosis and Neuroinflammatory Diseases.

Using a pediatric-focused lens, this review article briefly summarizes the presentation of several demyelinating and neuroinflammatory diseases using conventional magnetic resonance imaging (MRI) sequences, such as T1-weighted with and without an exogenous gadolinium-based contrast agent, T2-weighted, and fluid-attenuated inversion recovery (FLAIR). These conventional sequences exploit the intrinsic properties of tissue to provide a distinct signal contrast that is useful for evaluating disease features and monitoring treatment responses in patients by characterizing lesion involvement in the central nervous system and tracking temporal features with blood-brain barrier disruption. Illustrative examples are presented for pediatric-onset multiple sclerosis and neuroinflammatory diseases.

Abusive spinal injury: imaging and updates.

Child physical abuse has significant morbidity and mortality in the pediatric population. There is growing evidence that abusive spinal injury has been under-recognized, changing historical perceptions that these injuries are relatively uncommon. Increased utilization of MRI has been pivotal in recognizing that most abusive spinal injuries involve the soft tissues and ligaments or manifest as intrathecal blood products, which are often undetectable by radiography or CT.

BiœmuS: A new tool for neurological disorders studies through real-time emulation and hybridization using biomimetic Spiking Neural Network.

Characterization and modeling of biological neural networks has emerged as a field driving significant advancements in our understanding of brain function and related pathologies. As of today, pharmacological treatments for neurological disorders remain limited, pushing the exploration of promising alternative approaches such as electroceutics. Recent research in bioelectronics and neuromorphic engineering have fostered the development of the new generation of neuroprostheses for brain repair.

Personalized strategies of neurostimulation: from static biomarkers to dynamic closed-loop assessment of neural function.

Despite considerable advancement of first choice treatment (pharmacological, physical therapy, etc.) over many decades, neurological disorders still represent a major portion of the worldwide disease burden. Particularly concerning, the trend is that this scenario will worsen given an ever expanding and aging population.

IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy.

Background: Glioblastoma (GBM) brain tumors lacking IDH1 mutations (IDHwt) have the worst prognosis of all brain neoplasms. Patients receive surgery and chemoradiotherapy but tumors almost always fatally recur.

Results: Using RNA sequencing data from 107 pairs of pre- and post-standard treatment locally recurrent IDHwt GBM tumors, we identify two responder subtypes based on longitudinal changes in gene expression.

Incidental Thalamic Lesions Identified on Brain MRI in Pediatric and Young Adult Patients: Imaging Features and Natural History.

Background And Purpose: Nonspecific, localized thalamic signal abnormalities of uncertain significance are occasionally found on pediatric brain MR imaging. The goal of this study is to describe the MR imaging appearance and natural history of these lesions in children and young adults.

Materials And Methods: This retrospective study evaluated clinically acquired brain MR imaging examinations obtained from February 1995 to March 2022 at a large, tertiary care pediatric hospital.

Cardiac MRI and Clinical Outcomes in Arrhythmogenic Cardiomyopathy.

Arrhythmogenic cardiomyopathy is an inherited cardiomyopathy that can involve both ventricles. Several genes have been identified as pathogenic in arrhythmogenic cardiomyopathy, including . However, there are limited data on cardiac MRI findings in patients with variants to date.

Design of an experimental setup for delivering intracortical microstimulation in vivo via Spiking Neural Network.

Electroceutical approaches for the treatment of neurological disorders, such as stroke, can take advantage of neuromorphic engineering, to develop devices able to achieve a seamless interaction with the neural system. This paper illustrates the development and test of a hardware-based Spiking Neural Network (SNN) to deliver neural-like stimulation patterns in an open-loop fashion. Neurons in the SNN have been designed by following the Hodgkin-Huxley formalism, with parameters taken from neuroscientific literature.

Assessment of Severity of Long QT Syndrome Phenotype and Risk of Fetal Death.

Background: It has been postulated that long QT syndrome (LQTS) can cause fetal loss through putative adverse effects of the channelopathy on placenta and myometrial function. The authors aimed to describe the fetal death rate in a population of pregnant women with long QT syndrome and investigate whether women with more severe phenotype had worse fetal outcomes.

Methods And Results: The authors retrospectively evaluated fetal outcomes of 64 pregnancies from 23 women with long QT syndrome followed during pregnancy in a tertiary pregnancy and heart disease program.

Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.

Aims: Rare variants in the KCNQ1 gene are found in the healthy population to a much greater extent than the prevalence of Long QT Syndrome type 1 (LQTS1). This observation creates challenges in the interpretation of KCNQ1 rare variants that may be identified as secondary findings in whole exome sequencing.This study sought to identify missense variants within sub-domains of the KCNQ1-encoded Kv7.

Biallelic disruption of DDX41 activity is associated with distinct genomic and immunophenotypic hallmarks in acute leukemia.

Introduction: Inherited mutations cause familial predisposition to hematologic malignancies including acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS), with the majority of DDX41 mutated MDS/AMLs described to date harboring germline and co-occurring somatic variants. DDX41-AMLs were shown to share distinguishing clinical features such as a late AML onset and an indolent disease associated with a favorable outcome. However, genotype-phenotype correlation in DDX41-MDS/AMLs remain poorly understood.

Spontaneous EBV-Reactivation during B Cell Differentiation as a Model for Polymorphic EBV-Driven Lymphoproliferation.

Epstein-Barr virus (EBV)-driven B cell neoplasms arise from the reactivation of latently infected B cells. In a subset of patients, EBV was seen to drive a polymorphous lymphoproliferative disorder (LPD) in which B cell differentiation was retained. In this work, spontaneous EBV reactivation following B cell mitogen stimulation was shown to provide a potential model of polymorphic EBV-driven LPD.

Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.

Background: The human CD19 antigen is expressed throughout B cell ontogeny with the exception of neoplastic plasma cells and a subset of normal plasma cells. CD19 plays a role in propagating signals from the B cell receptor and other receptors such as CXCR4 in mature B cells. Studies of CD19-deficient patients have confirmed its function during the initial stages of B cell activation and the production of memory B cells; however, its role in the later stages of B cell differentiation is unclear.

User-centered design and development of TWIN-Acta: A novel control suite of the TWIN lower limb exoskeleton for the rehabilitation of persons post-stroke.

Introduction: Difficulties faced while walking are common symptoms after stroke, significantly reducing the quality of life. Walking recovery is therefore one of the main priorities of rehabilitation. Wearable powered exoskeletons have been developed to provide lower limb assistance and enable training for persons with gait impairments by using typical physiological movement patterns.

Neuromorphic-Based Neuroprostheses for Brain Rewiring: State-of-the-Art and Perspectives in Neuroengineering.

Neuroprostheses are neuroengineering devices that have an interface with the nervous system and supplement or substitute functionality in people with disabilities. In the collective imagination, neuroprostheses are mostly used to restore sensory or motor capabilities, but in recent years, new devices directly acting at the brain level have been proposed. In order to design the next-generation of neuroprosthetic devices for brain repair, we foresee the increasing exploitation of closed-loop systems enabled with neuromorphic elements due to their intrinsic energy efficiency, their capability to perform real-time data processing, and of mimicking neurobiological computation for an improved synergy between the technological and biological counterparts.

APRIL Drives a Coordinated but Diverse Response as a Foundation for Plasma Cell Longevity.

Ab-secreting cells survive in niche microenvironments, but cellular responses driven by particular niche signals are incompletely defined. The TNF superfamily member a proliferation-inducing ligand (APRIL) can support the maturation of transitory plasmablasts into long-lived plasma cells. In this study, we explore the biological programs established by APRIL in human plasmablasts.

Secondary Findings Using Broad Pan Cardiomyopathy and Arrhythmia Panels in Patients With a Personal or Family History of Inherited Cardiomyopathy or Arrhythmia Syndrome.

With broad panels and whole exome or genome sequencing, there is the potential for secondary findings, which include pathogenic/likely pathogenic variants or variants of uncertain significance in genes that are unrelated to the primary clinical indication for the testing. No study examined the frequency and implications of secondary findings when using a broad panel for inherited cardiomyopathy or arrhythmia syndromes. We performed a retrospective review of the primary indications for genetic testing, tests performed, and genetic test results to identify secondary findings in patients seen in the Inherited Cardiovascular Disease Clinic for a personal or family history of (possible) inherited cardiomyopathy, inherited arrhythmia syndrome, previous cardiac arrest, or family history of sudden cardiac death.

LFP Analysis of Brain Injured Anesthetized Animals Undergoing Closed-Loop Intracortical Stimulation.

Activity dependent stimulation (ADS) is a closed loop stimulation technique whose neurophysiological effects have not been deeply investigated. Here we explored how Local field Potentials (LFP) are impacted by a focal ischemic lesion and, subsequently, by ADS treatment. Intracortical microelectrode arrays were implanted in the rostral forelimb area (RFA) and in the primary somatosensory area (S1) of anaesthetized rats.

Parenchymal Insults in Abuse-A Potential Key to Diagnosis.

Subdural hemorrhage is a key imaging finding in cases of abusive head trauma and one that many radiologists and radiology trainees become familiar with during their years of training. Although it may prove to be a marker of trauma in a young child or infant that presents without a history of injury, the parenchymal insults in these young patients more often lead to the debilitating and sometimes devastating outcomes observed in this young population. It is important to recognize these patterns of parenchymal injuries and how they may differ from the imaging findings in other cases of traumatic injury in young children.

Understanding Bilateral Skull Fractures in Infancy: A Retrospective Multicenter Case Review.

Background: Bilateral skull fractures in infancy often raise suspicion for abuse. Nevertheless, literature suggests that they may occur accidentally. However, empiric data are lacking.

The impact of closed-loop intracortical stimulation on neural activity in brain-injured, anesthetized animals.

Background: Acquired brain injuries, such as stroke, are a major cause of long-term disability worldwide. Intracortical microstimulation (ICMS) can be used successfully to assist in guiding appropriate connections to restore lost sensorimotor integration. Activity-Dependent Stimulation (ADS) is a specific type of closed-loop ICMS that aims at coupling the activity of two different brain regions by stimulating one in response to activity in the other.