32 research outputs found
Solitary Peutz-Jeghers Polyp in a Paediatric Patient
Hamartomatous polyps of Peutz-Jeghers are mostly found in patients affected by Peutz-Jeghers syndrome (PJS), but they can be rarely encountered in the general population. It is unclear whether a solitary Peutz-Jeghers polyp (PJP) is an incomplete form of PJS or a separate entity. We report a case of solitary PJP in a paediatric patient in whom the other features of PJS were absent. The patient underwent laparotomy due to small bowel intussusception secondary to an ileac polyp. Histological examination showed the characteristic features of PJP, but the patient did not fulfill the WHO criteria for PJS diagnosis (negative family history for PJS and absence of mucocutaneous pigmentation); moreover analysis of the STK11/LKB1 gene did not reveal any genomic abnormality. The clinical and investigative findings in our case suggest that the solitary PJP can be considered a different clinical entity from PJS
A System Development Kit for Big Data Applications on FPGA-based Clusters: The EVEREST Approach
Modern big data workflows are characterized by computationally intensive
kernels. The simulated results are often combined with knowledge extracted from
AI models to ultimately support decision-making. These energy-hungry workflows
are increasingly executed in data centers with energy-efficient hardware
accelerators since FPGAs are well-suited for this task due to their inherent
parallelism. We present the H2020 project EVEREST, which has developed a system
development kit (SDK) to simplify the creation of FPGA-accelerated kernels and
manage the execution at runtime through a virtualization environment. This
paper describes the main components of the EVEREST SDK and the benefits that
can be achieved in our use cases.Comment: Accepted for presentation at DATE 2024 (multi-partner project
session
A âglympseâ into neurodegeneration: Diffusion MRI and cerebrospinal fluid aquaporinâ4 for the assessment of glymphatic system in Alzheimer's disease and other dementias
The glymphatic system (GS) is a wholeâbrain perivascular network, consisting of three compartments: the periarterial and perivenous spaces and the interposed brain parenchyma. GS dysfunction has been implicated in neurodegenerative diseases, particularly Alzheimer's disease (AD). So far, comprehensive research on GS in humans has been limited by the absence of easily accessible biomarkers. Recently, promising nonâinvasive methods based on magnetic resonance imaging (MRI) along with aquaporinâ4 (AQP4) quantification in the cerebrospinal fluid (CSF) were introduced for an indirect assessment of each of the three GS compartments. We recruited 111 consecutive subjects presenting with symptoms suggestive of degenerative cognitive decline, who underwent 3 T MRI scanning including multiâshell diffusionâweighted images. Forty nine out of 111 also underwent CSF examination with quantification of CSFâAQP4. CSFâAQP4 levels and MRI measuresâincluding perivascular spaces (PVS) counts and volume fraction (PVSVF), white matter free water fraction (FWâWM) and mean kurtosis (MKâWM), diffusion tensor imaging analysis along the perivascular spaces (DTIâALPS) (mean, left and right)âwere compared among patients with AD (n = 47) and other neurodegenerative diseases (nAD = 24), patients with stable mild cognitive impairment (MCI = 17) and cognitively unimpaired (CU = 23) elderly people. Two runs of analysis were conducted, the first including all patients; the second after dividing both nAD and AD patients into two subgroups based on gray matter atrophy as a proxy of disease stage. Age, sex, years of education, and scanning time were included as confounding factors in the analyses. Considering the whole cohort, patients with AD showed significantly higher levels of CSFâAQP4 (exp(b) = 2.05, p = .005) and FWâWM FWâWM (exp(b) = 1.06, p = .043) than CU. AQP4 levels were also significantly higher in nAD in respect to CU (exp(b) = 2.98, p < .001). CSFâAQP4 and FWâWM were significantly higher in both less atrophic AD (exp(b) = 2.20, p = .006; exp(b) = 1.08, p = .019, respectively) and nAD patients (exp(b) = 2.66, p = .002; exp(b) = 1.10, p = .019, respectively) compared to CU subjects. Higher total (exp(b) = 1.59, p = .013) and centrum semiovale PVS counts (exp(b) = 1.89, p = .016), total (exp(b) = 1.50, p = .036) and WM PVSVF (exp(b) = 1.89, p = .005) together with lower MKâWM (exp(b) = 0.94, p = .006), mean and left ALPS (exp(b) = 0.91, p = .043; exp(b) = 0.88, p = .010 respectively) were observed in more atrophic AD patients in respect to CU. In addition, more atrophic nAD patients exhibited higher levels of AQP4 (exp(b) = 3.39, p = .002) than CU. Our results indicate significant changes in putative MRI biomarkers of GS and CSFâAQP4 levels in AD and in other neurodegenerative dementias, suggesting a close interaction between glymphatic dysfunction and neurodegeneration, particularly in the case of AD. However, the usefulness of some of these biomarkers as indirect and standalone indices of glymphatic activity may be hindered by their dependence on disease stage and structural brain damage
A prenylated dsRNA sensor protects against severe COVID-19
Inherited genetic factors can influence the severity of COVID-19, but the molecular explanation underpinning a genetic association is often unclear. Intracellular antiviral defenses can inhibit the replication of viruses and reduce disease severity. To better understand the antiviral defenses relevant to COVID-19, we used interferon-stimulated gene (ISG) expression screening to reveal that OAS1, through RNase L, potently inhibits SARS-CoV-2. We show that a common splice-acceptor SNP (Rs10774671) governs whether people express prenylated OAS1 isoforms that are membrane-associated and sense specific regions of SARS-CoV-2 RNAs, or only express cytosolic, nonprenylated OAS1 that does not efficiently detect SARS-CoV-2. Importantly, in hospitalized patients, expression of prenylated OAS1 was associated with protection from severe COVID-19, suggesting this antiviral defense is a major component of a protective antiviral response
Improving the digitization of shape and color of 3D artworks in a cluttered environment
AbstractâWe propose an approach for improving the digitization of shape and color of 3D artworks in a cluttered environment using 3D laser scanning and flash photography. In order to separate clutter from acquired material, semi-automated methods are employed to generate masks for segment the 2D range maps and the color photographs, removing unwanted 3D and color data prior to 3D integration. Sharp shadows generated by flash acquisition are trivially handled by this masking process, and color deviations introduced by the flash light are corrected at color blending time by taking into account the object geometry. The approach has been applied to, and evaluated on, a large scale acquisition campaign of the Montâe Prama complex, an extraordinary collection of stone fragments from the Nuragic era, depicting larger-than-life archers, warriors, boxers, as well as small models of prehistoric nuraghe (cone-shaped stone towers). The acquisition campaign has covered 36 statues mounted on metallic supports, acquired at 0.25mm resolution, resulting in over 6200 range scans (over 1.3G valid samples) and 3426 10Mpixel photographs. I
3D floor plan recovery from overlapping spherical images
Abstract We present a novel approach to automatically recover, from a small set of partially overlapping spherical images, an indoor structure representation in terms of a 3D floor plan registered with a set of 3D environment maps. We introduce several improvements over previous approaches based on color and spatial reasoning exploiting Manhattan world priors. In particular, we introduce a new method for geometric context extraction based on a 3D facet representation, which combines color distribution analysis of individual images with sparse multi-view clues. We also introduce an efficient method to combine the facets from different viewpoints in a single consistent model, taking into the reliability of the facet information. The resulting capture and reconstruction pipeline automatically generates 3D multi-room environments in cases where most previous approaches fail, e.g., in the presence of hidden corners and large clutter, without the need for additional dense 3D data or tools. We demonstrate the effectiveness and performance of our approach on different real-world indoor scenes. Our test data is available to allow further studies and comparisons