Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden.

Objective: Fenfluramine (FFA), stiripentol (STP), and cannabidiol (CBD) are approved add-on therapies for seizures in Dravet syndrome (DS). We report on the long-term safety and health care resource utilization (HCRU) of patients with DS treated with FFA under an expanded access program (EAP).

Methods: A cohort of 124 patients received FFA for a median of 2.

A Surgical Technique for Tibial Tubercle Avulsion Fractures Using Transpatellar Suture Tape Tension Band and De-tensioning Suture Anchors.

This article aims to present a comprehensive technical note detailing our preferred treatment approach for tibial tuberosity avulsion fractures in the adult and elderly populations, particularly in scenarios characterized by low tissue quality and limited bone stock. Existing literature on this fracture type is scarce, with many described techniques relying on optimal bone quality for effective screw fixation of the tibial tuberosity. Various methods for tibial tuberosity avulsion fixation include K-wires, cannulated screws, staples, tension bands, suture anchors, and in select cases, direct transosseous sutures.

The Belowground-Aboveground Interactions of Zucchini: The Effects of Strain T22 on the Population and Behavior of the Aphid Glover and Its Endoparasitoid Viereck.

Fungi belonging to the genus have received high consideration in agriculture due to their beneficial effects on crops from their plant promotion effects and protection from disease. A role of fungi in triggering plant defense mechanisms against insect pests, either directly or by natural enemy attraction, has been proposed, even if the results in different studies are controversial. In this present study, using zucchini plants as a model species, we investigated the effects of strain T22 plant inoculation on the cotton aphid and its endoparasitoid .

Lateral Extra-articular Tenodesis With Cortical Suspensory Femoral Fixation and Suture Tape Augmentation.

This article aims to provide a new surgical technique for rotational instability in the setting of anterior cruciate ligament rupture. Two main groups of surgical procedures can be identified in the treatment of anterolateral knee instability: lateral extra-articular tenodesis and anterolateral ligament reconstruction. Although the importance of anterior cruciate ligament reconstruction in anterolateral complex injuries is well known, the superiority of lateral extra-articular tenodesis over anterolateral ligament reconstruction or vice versa has not yet been shown.

Analysis of the effect of HDAC inhibitors on the formation of the HIV reservoir.

The HIV reservoir is more dynamic than previously thought with around 70% of the latent reservoir originating from viruses circulating within 1 year of the initiation of antiretroviral therapy (ART). In an model system of HIV latency, it was reported that early exposure to class I histone deacetylase (HDAC) inhibitors might prevent these more recently infected cells from entering a state of stable viral latency. This finding raises the possibility that co-administration of HDAC inhibitors at the time of ART initiation may prevent the establishment of much of the HIV reservoir.

Survey of rehabilitation approaches and plans for individuals with dravet syndrome (RAPIDS) in Italy: Current practices and strategies to progress.

Dravet syndrome, a developmental and epileptic encephalopathy, manifests with varying degrees of cognitive and communication impairment, postural and movement disorders (such as ataxia, coordination issues, and crouch gait) and behavioural challenges (including attention deficit/hyperactivity, oppositional/defiant behaviour, and autistic traits). Rehabilitation is a valuable tool for most patients, typically prescribed to address the most pressing issues. However, current practices often fall short in proactively preventing and treating known challenges associated with the syndrome, as indicated by the latest literature, at different life stages.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

Objective: DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo DYNC1H1 pathogenic variants, identify subphenotypes on the DYNC1H1-related epilepsy spectrum, and compare the genotype-phenotype correlations observed in our cohort with the literature.

Phase-contrast neutron imaging compared with wave propagation and simulations.

Propagation-based phase contrast, for example in the form of edge enhancement contrast, is well established within X-ray imaging but is not widely used in neutron imaging. This technique can help increase the contrast of low-attenuation samples but may confuse quantitative absorption measurements. Therefore, it is important to understand the experimental parameters that cause and amplify or dampen this effect in order to optimize future experiments properly.

The pie-crust surgical technique for medial collateral ligament release: enhancing visualization of the medial compartment in knee arthroscopy.

This study presents a comprehensive surgical technique for performing a 'pie-crust' release of the medial collateral ligament (MCL) to enhance visualization of the medial compartment during arthroscopic knee procedures. The primary objective of this research is to improve the precision of diagnosis and treatment for injuries specifically affecting the posterior horn and posterior root of the medial meniscus. Arthroscopic knee procedures have become increasingly common in orthopedic surgery, offering the advantage of minimally invasive techniques for treating a wide range of knee conditions.

Transgenerational plasticity in aphids reared in a poor-resource environment.

The changing environmental conditions can affect insect biology over multiple generations and phenotypic plasticity is important for coping with these changes. Transgenerational plasticity occurs when the environment in which the parents developed influences the plastic response of the offspring phenotype. In the present study, the plastic effects of resource limitation on important life history traits such as body size, fecundity, survival, and resistance to starvation of the pea aphid were investigated over two generations.

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Background: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort of patients with genetically confirmed PKS, aims to systematically investigate the neuroradiological features of this syndrome and identify the possible existence of a typical pattern.

Gamma oscillatory complexity conveys behavioral information in hippocampal networks.

The hippocampus and entorhinal cortex exhibit rich oscillatory patterns critical for cognitive functions. In the hippocampal region CA1, specific gamma-frequency oscillations, timed at different phases of the ongoing theta rhythm, are hypothesized to facilitate the integration of information from varied sources and contribute to distinct cognitive processes. Here, we show that gamma elements -a multidimensional characterization of transient gamma oscillatory episodes- occur at any frequency or phase relative to the ongoing theta rhythm across all CA1 layers in male mice.

Wastewater irrigation and Trichoderma colonization in tomato plants: effects on plant traits, antioxidant activity, and performance of the insect pest Macrosiphum euphorbiae.

The scarcity of freshwater for agriculture in many regions has led to the application of sewage and saline water for irrigation. Irrigation with non-conventional water sources could become a non-harmful process for plant cultivation, and the effects of their use on crops should be monitored in order to develop optimal management strategies. One possibility to overcome potential barriers is to use biostimulants such as Trichoderma spp.

State-switching and high-order spatiotemporal organization of dynamic functional connectivity are disrupted by Alzheimer's disease.

Spontaneous activity during the resting state, tracked by BOLD fMRI imaging, or shortly rsfMRI, gives rise to brain-wide dynamic patterns of interregional correlations, whose structured flexibility relates to cognitive performance. Here, we analyze resting-state dynamic functional connectivity (dFC) in a cohort of older adults, including amnesic mild cognitive impairment (aMCI, = 34) and Alzheimer's disease (AD, = 13) patients, as well as normal control (NC, = 16) and cognitively "supernormal" controls (SNC, = 10) subjects. Using complementary state-based and state-free approaches, we find that resting-state fluctuations of different functional links are not independent but are constrained by high-order correlations between triplets or quadruplets of functionally connected regions.

Decomposing Neural Circuit Function into Information Processing Primitives.

It is challenging to measure how specific aspects of coordinated neural dynamics translate into operations of information processing and, ultimately, cognitive functions. An obstacle is that simple circuit mechanisms-such as self-sustained or propagating activity and nonlinear summation of inputs-do not directly give rise to high-level functions. Nevertheless, they already implement simple the information carried by neural activity.

Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.

Objective: Cardio-facio-cutaneous syndrome (CFC) is a genetic disorder due to variants affecting genes coding key proteins of the Ras/MAPK signaling pathway. Among the different features of CFC, neurological involvement, including cerebral malformations and epilepsy, represents a common and clinically relevant aspect. Status epilepticus (SE) is a recurrent feature, especially in a specific subgroup of CFC patients with developmental and epileptic encephalopathy (DEE) and history of severe pharmacoresistant epilepsy.

Different Faces of Medial Beta-Band Activity Reflect Distinct Visuomotor Feedback Signals.

Beta-band (13-35 Hz) modulations following reward, task outcome feedback, and error have been described in cognitive and/or motor adaptation tasks. Observations from different studies are, however, difficult to conciliate. Among the studies that used cognitive response selection tasks, several reported an increase in beta-band activity following reward, whereas others observed increased beta power after negative feedback.

GABRA1-Related Disorders: From Genetic to Functional Pathways.

Objective: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyze the electroclinical features and the functional effects of GABRA1 variants to establish genotype-phenotype correlations.

Short- vs long-term assessment of heart rate variability: Clinical significance in Dravet Syndrome.

Purpose: Heart rate variability (HRV) is a promising prognostic biomarker in Dravet Syndrome (DS), but different studies are not always comparable, limiting its clinical application. In fact, multiple HRV parameters, analyzed over different timescales and in different states are reported. The aim of this study was to assess which HRV parameter is more reproducible and clinically significant, analyzing differences between wake and sleep.

Repairing Artifacts in Neural Activity Recordings Using Low-Rank Matrix Estimation.

Electrophysiology recordings are frequently affected by artifacts (e.g., subject motion or eye movements), which reduces the number of available trials and affects the statistical power.

Event-related variability is modulated by task and development.

In carefully designed experimental paradigms, cognitive scientists interpret the mean event-related potentials (ERP) in terms of cognitive operations. However, the huge signal variability from one trial to the next, questions the representability of such mean events. We explored here whether this variability is an unwanted noise, or an informative part of the neural response.

Human T cells efficiently control RSV infection.

Respiratory syncytial virus (RSV) infection causes significant morbidity and mortality in infants, immunocompromised individuals, and older individuals. There is an urgent need for effective antivirals and vaccines for high-risk individuals. We used 2 complementary in vivo models to analyze RSV-associated human lung pathology and human immune correlates of protection.