Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.

Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in PAICS gene, is an inborn error of de novo purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.

Artificial intelligence-driven volumetric CT outcome score in cystic fibrosis: longitudinal and multicenter validation with/without modulators treatment.

Objectives: Holistic segmentation of CT structural alterations with 3D deep learning has recently been described in cystic fibrosis (CF), allowing the measurement of normalized volumes of airway abnormalities (NOVAA-CT) as an automated quantitative outcome. Clinical validations are needed, including longitudinal and multicenter evaluations.

Materials And Methods: The validation study was retrospective between 2010 and 2023.

Diversity-induced trivialization and resilience of neural dynamics.

Heterogeneity is omnipresent across all living systems. Diversity enriches the dynamical repertoire of these systems but remains challenging to reconcile with their manifest robustness and dynamical persistence over time, a fundamental feature called resilience. To better understand the mechanism underlying resilience in neural circuits, we considered a nonlinear network model, extracting the relationship between excitability heterogeneity and resilience.

Induced synchronization by endogenous noise modulation in finite-size random neural networks: A stochastic mean-field study.

Event-related synchronization and desynchronization (ERS/ERD) are well-known features found experimentally in brain signals during cognitive tasks. Their understanding promises to have much better insights into neural information processes in cognition. Under the hypothesis that neural information affects the endogenous neural noise level in populations, we propose to employ a stochastic mean-field model to explain ERS/ERD in the γ-frequency range.

Delayed closed-loop neurostimulation for the treatment of pathological brain rhythms in mental disorders: a computational study.

Mental disorders are among the top most demanding challenges in world-wide health. A large number of mental disorders exhibit pathological rhythms, which serve as the disorders characteristic biomarkers. These rhythms are the targets for neurostimulation techniques.

Generating High-Resolution Synthetic CT from Lung MRI with Ultrashort Echo Times: Initial Evaluation in Cystic Fibrosis.

Background Lung MRI with ultrashort echo times (UTEs) enables high-resolution and radiation-free morphologic imaging; however, its image quality is still lower than that of CT. Purpose To assess the image quality and clinical applicability of synthetic CT images generated from UTE MRI by a generative adversarial network (GAN). Materials and Methods This retrospective study included patients with cystic fibrosis (CF) who underwent both UTE MRI and CT on the same day at one of six institutions between January 2018 and December 2022.

Intrinsic neural diversity quenches the dynamic volatility of neural networks.

Heterogeneity is the norm in biology. The brain is no different: Neuronal cell types are myriad, reflected through their cellular morphology, type, excitability, connectivity motifs, and ion channel distributions. While this biophysical diversity enriches neural systems' dynamical repertoire, it remains challenging to reconcile with the robustness and persistence of brain function over time (resilience).

Arousal system stimulation and anesthetic state alter visuoparietal connectivity.

Cortical information processing is under the precise control of the ascending arousal system (AAS). Anesthesia suppresses cortical arousal that can be mitigated by exogenous stimulation of the AAS. The question remains to what extent cortical information processing is regained by AAS stimulation.

Selective control of synaptic plasticity in heterogeneous networks through transcranial alternating current stimulation (tACS).

Transcranial alternating current stimulation (tACS) represents a promising non-invasive treatment for an increasingly wide range of neurological and neuropsychiatric disorders. The ability to use periodically oscillating electric fields to non-invasively engage neural dynamics opens up the possibility of recruiting synaptic plasticity and to modulate brain function. However, despite consistent reports about tACS clinical effectiveness, strong state-dependence combined with the ubiquitous heterogeneity of cortical networks collectively results in high outcome variability.

Ultra-high resolution CT imaging of interstitial lung disease: impact of photon-counting CT in 112 patients.

Objectives: To compare lung parenchyma analysis on ultra-high resolution (UHR) images of a photon-counting CT (PCCT) scanner with that of high-resolution (HR) images of an energy-integrating detector CT (EID-CT).

Methods: A total of 112 patients with stable interstitial lung disease (ILD) were investigated (a) at T0 with HRCT on a 3-generation dual-source CT scanner; (b) at T1 with UHR on a PCCT scanner; (c) with a comparison of 1-mm-thick lung images.

Results: Despite a higher level of objective noise at T1 (74.

Ultra-High-Resolution Photon-Counting CT Imaging of the Chest: A New Era for Morphology and Function.

After a decade of preclinical testing, photon-counting computed tomography (PCCT) has now entered daily routine, enabling radiologists to start investigating thoracic disorders in unprecedented conditions. The improved spatial resolution of the ultra-high-resolution (UHR) scanning mode is a major step for the analysis of bronchopulmonary disorders, making abnormalities at the level of small anatomical structures such as secondary pulmonary lobules accessible to radiologists. Distal divisions of pulmonary and systemic vessels also benefit from UHR protocols as alterations of lung microcirculation were previously excluded from confident analysis with energy-integrating detector CT.

Chronic Thromboembolic Pulmonary Disease and Chronic Thromboembolic Pulmonary Hypertension.

Chronic thromboembolic pulmonary hypertension (CTEPH) and chronic thromboembolic pulmonary disease (CTEPD) are two terms characterizing symptomatic patients with chronic thromboembolic occlusions of pulmonary arteries with or without pulmonary hypertension at rest. Their diagnosis follows evolving schemas that integrate technological advances of pivotal imaging modalities among which computed tomography angiography plays a major role. This review article summarizes the current knowledge on the natural history of acute pulmonary embolism and its evolution toward chronic pulmonary embolism, as well as the imaging clues, for the identification of chronically obstructed pulmonary arteries.

Digital Addiction and Sleep.

In 2020, the World Health Organization formally recognized addiction to digital technology (connected devices) as a worldwide problem, where excessive online activity and internet use lead to inability to manage time, energy, and attention during daytime and produce disturbed sleep patterns or insomnia during nighttime. Recent studies have shown that the problem has increased in magnitude worldwide during the COVID-19 pandemic. The extent to which dysfunctional sleep is a consequence of altered motivation, memory function, mood, diet, and other lifestyle variables or results from excess of blue-light exposure when looking at digital device screens for long hours at day and night is one of many still unresolved questions.

Mathematical Model Insights into EEG Origin under Transcranial Direct Current Stimulation (tDCS) in the Context of Psychosis.

Schizophrenia is a psychotic disease that develops progressively over years with a transition from prodromal to psychotic state associated with a disruption in brain activity. Transcranial Direct Current Stimulation (tDCS), known to alleviate pharmaco-resistant symptoms in patients suffering from schizophrenia, promises to prevent such a psychotic transition. To understand better how tDCS affects brain activity, we propose a neural cortico-thalamo-cortical (CTC) circuit model involving the Ascending Reticular Arousal System (ARAS) that permits to describe major impact features of tDCS, such as excitability for short-duration stimulation and electroencephalography (EEG) power modulation for long-duration stimulation.

Gender Differences in Student Comfort Voluntarily Asking and Answering Questions in Large-Enrollment College Science Courses.

Allowing students to ask and answer questions is a common practice employed by college science instructors. However, recent literature has identified that women participate in whole-class discussions less often than men. One hypothesized reason for this gender gap is that women may be less comfortable participating.

Evaluation Of a New Reconstruction Technique for Dual-Energy (DECT) Lung Perfusion: Preliminary Experience In 58 Patients.

Purpose: To compare dual-energy (DE) lung perfused blood volume generated by subtraction of virtual monoenergetic images (Lung Mono) with images obtained by three-compartment decomposition (Lung PBV).

Material And Methods: The study included 58 patients (28 patients with and 30 patients without PE) with reconstruction of Lung PBV images (i.e.

Arousal Fluctuations Govern Oscillatory Transitions Between Dominant [Formula: see text] and [Formula: see text] Occipital Activity During Eyes Open/Closed Conditions.

Arousal results in widespread activation of brain areas to increase their response in task and behavior relevant ways. Mediated by the Ascending Reticular Arousal System (ARAS), arousal-dependent inputs interact with neural circuitry to shape their dynamics. In the occipital cortex, such inputs may trigger shifts between dominant oscillations, where [Formula: see text] activity is replaced by [Formula: see text] activity, or vice versa.

Impact of the COVID-19 pandemic on clinical research in hospitals: observational study in the first epicenter of the epidemic during the general lockdown in France.

Objective: The COVID-19 epidemic has had a strong impact on the entire healthcare sector in France with priority being given to research for new therapeutic options for COVID-19. Nevertheless, continuity of care for patients suffering from other diseases represents a crucial challenge, and clinical research is no exception in this respect. This study aims to assess the impact of the strict Covid-19 lockdown on non-Covid-19 clinical research in the French University Hospital of Strasbourg.

Call on me! Undergraduates' perceptions of voluntarily asking and answering questions in front of large-enrollment science classes.

Allowing students to voluntarily ask and answer questions in front of the whole class are common teaching practices used in college science courses. However, few studies have examined college science students' perceptions of these practices, the extent to which students choose to engage in these practices, and what discourages students from participating. In this study, we surveyed 417 undergraduates at a research-intensive institution about their experiences asking and answering questions in large-enrollment college science courses.

Neurostimulation stabilizes spiking neural networks by disrupting seizure-like oscillatory transitions.

An improved understanding of the mechanisms underlying neuromodulatory approaches to mitigate seizure onset is needed to identify clinical targets for the treatment of epilepsy. Using a Wilson-Cowan-motivated network of inhibitory and excitatory populations, we examined the role played by intrinsic and extrinsic stimuli on the network's predisposition to sudden transitions into oscillatory dynamics, similar to the transition to the seizure state. Our joint computational and mathematical analyses revealed that such stimuli, be they noisy or periodic in nature, exert a stabilizing influence on network responses, disrupting the development of such oscillations.

Machine Learning and Deep Neural Network Applications in the Thorax: Pulmonary Embolism, Chronic Thromboembolic Pulmonary Hypertension, Aorta, and Chronic Obstructive Pulmonary Disease.

The radiologic community is rapidly integrating a revolution that has not fully entered daily practice. It necessitates a close collaboration between computer scientists and radiologists to move from concepts to practical applications. This article reviews the current littérature on machine learning and deep neural network applications in the field of pulmonary embolism, chronic thromboembolic pulmonary hypertension, aorta, and chronic obstructive pulmonary disease.

Effect of Stimulation Waveform on the Non-linear Entrainment of Cortical Alpha Oscillations.

In the past decade, there has been a surge of interest in using patterned brain stimulation to manipulate cortical oscillations, in both experimental and clinical settings. But the relationship between stimulation waveform and its impact on ongoing oscillations remains poorly understood and severely restrains the development of new paradigms. To address some aspects of this intricate problem, we combine computational and mathematical approaches, providing new insights into the influence of waveform of both low and high-frequency stimuli on synchronous neural activity.

Suppression of underlying neuronal fluctuations mediates EEG slowing during general anaesthesia.

The physiological mechanisms by which anaesthetic drugs modulate oscillatory brain activity remain poorly understood. Combining human data, mathematical and computational analysis of both spiking and mean-field models, we investigated the spectral dynamics of encephalographic (EEG) beta-alpha oscillations, observed in human patients undergoing general anaesthesia. The effect of anaesthetics can be modelled as a reduction of neural fluctuation intensity, and/or an increase in inhibitory synaptic gain in the thalamo-cortical circuit.