Quantitative measurement of dural ectasia: associations with clinical and genetic characteristics in Marfan syndrome.

PURPOSE: Dural ectasia (DE) may significantly impact Marfan syndrome (MFS) patients' quality of life due to chronic lower back pain, postural headache and urinary disorders. We aimed to evaluate the association of quantitative measurements of DE, and their evolution over time, with demographic, clinical and genetic characteristics in a cohort of MFS patients. METHODS: We retrospectively included 88 consecutive patients (39% females, mean age 37.1 ± 14.2 years) with genetically confirmed MFS who underwent at least one MRI or CT examination of the lumbosacral spine. Vertebral scalloping (VS) and dural sac ratio (DSR) were calculated from L3 to S3. Likely pathogenic or pathogenic FBN1 variants were categorized as either protein-truncating or in-frame. The latter were further classified according to their impact on the cysteine content of fibrillin-1. RESULTS: Higher values of the systemic score (revised Ghent criteria) were associated with greater DSR at lumbar (p < 0.001) and sacral (p = 0.021) levels. Patients with protein-truncating variants exhibited a greater annual increase in lumbar (p = 0.039) and sacral (p = 0.048) DSR. Mutations affecting fibrillin-1 cysteine content were linked to higher VS (p = 0.009) and DSR (p = 0.038) at S1, along with a faster increase in VS (p = 0.032) and DSR (p = 0.001) in the lumbar region. CONCLUSION: Our study shed further light on the relationship between genotype, dural pathology, and the overall clinical spectrum of MFS. The identification of protein-truncating variants and those impacting cysteine content may therefore suggest closer patient monitoring, in order to address potential complications associated with DE.

Sulcal Morphometry Predicts Mild Cognitive Impairment Conversion to Alzheimer's Disease.

Background: Being able to differentiate mild cognitive impairment (MCI) patients who would eventually convert (MCIc) to Alzheimer's disease (AD) from those who would not (MCInc) is a key challenge for prognosis. Objective: This study aimed to investigate the ability of sulcal morphometry to predict MCI progression to AD, dedicating special attention to an accurate identification of sulci. Methods: Twenty-five AD patients, thirty-seven MCI and twenty-five healthy controls (HC) underwent a brain-MR protocol (1.5T scanner) including a high-resolution T1-weighted sequence. MCI patients underwent a neuropsychological assessment at baseline and were clinically re-evaluated after a mean of 2.3 years. At follow-up, 12 MCI were classified as MCInc and 25 as MCIc. Sulcal morphometry was investigated using the BrainVISA framework. Consistency of sulci across subjects was ensured by visual inspection and manual correction of the automatic labelling in each subject. Sulcal surface, depth, length, and width were retrieved from 106 sulci. Features were compared across groups and their classification accuracy in predicting MCI conversion was tested. Potential relationships between sulcal features and cognitive scores were explored using Spearman's correlation. Results: The width of sulci in the temporo-occipital region strongly differentiated between each pair of groups. Comparing MCIc and MCInc, the width of several sulci in the bilateral temporo-occipital and left frontal areas was significantly altered. Higher width of frontal sulci was associated with worse performances in short-term verbal memory and phonemic fluency. Conclusions: Sulcal morphometry emerged as a strong tool for differentiating HC, MCI, and AD, demonstrating its potential prognostic value for the MCI population.

UNet and MobileNet CNN-based model observers for CT protocol optimization: comparative performance evaluation by means of phantom CT images.

Purpose: The aim of this work is the development and characterization of a model observer (MO) based on convolutional neural networks (CNNs), trained to mimic human observers in image evaluation in terms of detection and localization of low-contrast objects in CT scans acquired on a reference phantom. The final goal is automatic image quality evaluation and CT protocol optimization to fulfill the ALARA principle. Approach: Preliminary work was carried out to collect localization confidence ratings of human observers for signal presence/absence from a dataset of 30,000 CT images acquired on a PolyMethyl MethAcrylate phantom containing inserts filled with iodinated contrast media at different concentrations. The collected data were used to generate the labels for the training of the artificial neural networks. We developed and compared two CNN architectures based respectively on Unet and MobileNetV2, specifically adapted to achieve the double tasks of classification and localization. The CNN evaluation was performed by computing the area under localization-ROC curve (LAUC) and accuracy metrics on the test dataset. Results: The mean of absolute percentage error between the LAUC of the human observer and MO was found to be below 5% for the most significative test data subsets. An elevated inter-rater agreement was achieved in terms of S-statistics and other common statistical indices. Conclusions: Very good agreement was measured between the human observer and MO, as well as between the performance of the two algorithms. Therefore, this work is highly supportive of the feasibility of employing CNN-MO combined with a specifically designed phantom for CT protocol optimization programs.

Extensive cosmic showers detection: the importance of timing and the role of GPS in the EEE experiment.

Extreme Energy Events (EEE) is an extended Cosmic Rays (CRs) Observatory, composed of about 60 tracking telescopes spread over more than 10 degrees in Latitude and Longitude. We present the metrological characterization of a representative set of actually installed EEE GPS receivers, their calibration and their comparison with respect to dual-frequency receivers for timing applications, as well as plans for a transportable measurement system to calibrate the currently deployed GPS receivers. Finally, the realization of an INRIM Laboratory dedicated to EEE, aimed at hosting reference telescopes and allowing timing studies for Particle Physics/Astrophysics experiments, is presented, as well as the possibility of synchronizing already deployed telescopes utilizing White Rabbit Technique, over optical fiber links, directly with the Universal Time Coordinated time scale, as realized by INRIM (UTC(IT)).

An Efficient and Configurable Preprocessing Algorithm to Improve Stability Analysis.

The Allan variance (AVAR) is widely used to measure the stability of experimental time series. Specifically, AVAR is commonly used in space applications such as monitoring the clocks of the global navigation satellite systems (GNSSs). In these applications, the experimental data present some peculiar aspects which are not generally encountered when the measurements are carried out in a laboratory. Space clocks' data can in fact present outliers, jumps, and missing values, which corrupt the clock characterization. Therefore, an efficient preprocessing is fundamental to ensure a proper data analysis and improve the stability estimation performed with the AVAR or other similar variances. In this work, we propose a preprocessing algorithm and its implementation in a robust software code (in MATLAB language) able to deal with time series of experimental data affected by nonstationarities and missing data; our method is properly detecting and removing anomalous behaviors, hence making the subsequent stability analysis more reliable.

Calibration of Galileo signals for time metrology.

Using global navigation satellite system (GNSS) signals for accurate timing and time transfer requires the knowledge of all electric delays of the signals inside the receiving system. GNSS stations dedicated to timing or time transfer are classically calibrated only for Global Positioning System (GPS) signals. This paper proposes a procedure to determine the hardware delays of a GNSS receiving station for Galileo signals, once the delays of the GPS signals are known. This approach makes use of the broadcast satellite inter-signal biases, and is based on the ionospheric delay measured from dual-frequency combinations of GPS and Galileo signals. The uncertainty on the so-determined hardware delays is estimated to 3.7 ns for each isolated code in the L5 frequency band, and 4.2 ns for the ionosphere-free combination of E1 with a code of the L5 frequency band. For the calibration of a time transfer link between two stations, another approach can be used, based on the difference between the common-view time transfer results obtained with calibrated GPS data and with uncalibrated Galileo data. It is shown that the results obtained with this approach or with the ionospheric method are equivalent.