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Cardiological Manifestations in Males and Females Affected by NAA10‐Related Disease
No full textWe report a family with two affected brothers presenting hypertrophic cardiomyopathy, prolonged QT interval, and intellectual disability who, after a dozen years of inconclusive genetic testing, were found to share a previously undescribed variant c.549delA (p.Gly184Alafs*67) in the X-linked NAA10 gene. Their mother was heterozygous for the variant and had a long history of unexplained cardiac arrhythmia. NAA10 (N-alpha-acetyltransferase 10) is a component of the N-terminal acetyltransferase A complex (also called the NatA complex) necessary for N-alpha-acetylation, among the most common post-translational protein modifications in eukaryotic cells. Deleterious variants in the X-linked NAA10 gene cause a wide spectrum of clinical features, recently merged under the umbrella term of NAA10-related disease, mainly featuring intellectual disability, seizures, visual and cardiac abnormalities. Congenital heart defects and cardiac dysfunction/arrhythmias emerged as a very common manifestations of the disease both in males and females described in the medical literature. While atrial and ventricular septal defects dominated at pediatric age in both sexes, hypertrophic cardiomyopathy, and prolonged QT were observed in adult males and females, respectively. Our observations may help in the early recognition of NAA10-related disease based on previously underrecognized cardiac features, especially in females with unexplained arrhythmias and/or prolonged QT, and guide personalized management of this neglected condition
BIM-BEM interoperability for energy analysis: A comparative study of different strategies
Get PDFBuilding Information Modeling (BIM) and Building Energy Modeling (BEM) can revolutionize the building design process, enabling early-stage energy analysis and sustainable design. However, effective interoperability between these tools remains a significant challenge. This paper investigates two strategies for bridging the gap between BIM and BEM: real-time connection (S1) and standardized exchange formats (S2). A case study building was employed to compare the performance of these approaches, and all dynamic energy simulation models were calibrated using statistical analysis of experimental thermal energy consumption data. While S1 proved to be limited by customization constraints and consequently not applicable for the case study selected, S2 demonstrated successful interoperability, yielding energy-calibrated model results consistent with traditional BEM methods, with a difference of only 2 % in annual thermal energy consumption obtained. This work, concretely testing the BIM-to-BEM approach, is able to suggest practical actions to improve communication between software where possible. Furthermore, the direct comparison between the different approaches to modeling allows to clearly highlight the advantages and disadvantages of each one, underlining the importance of reliable data exchange for accurate energy simulations and the need for further advancements in BIM-to-BEM interoperability to fully realize the benefits of integrated design
Ultrasound examiners' ability to describe ovarian cancer spread using preacquired ultrasound videoclips from a selected patient sample with high prevalence of cancer spread
Get PDFInfluence of the interimplant horizontal distance on the clinical outcomes of patients rehabilitated with two adjacent implants: A systematic review and meta-analysis
No full textStatement of problem
The effect of the interimplant distance on bone stability, soft tissue health, and esthetic outcomes remains controversial. Closer implants may lead to greater bone loss and esthetic complications, highlighting the importance of an optimal implant placement for long-term success and patient satisfaction.
Purpose
The purpose of this systematic review was to evaluate the impact of reduced interimplant distance (<3 mm) versus increased interimplant distance (≥3 mm) on marginal bone level changes as the primary outcome. The implant survival was assessed as a secondary outcome.
Material and methods
The review, registered in the International Prospective Register of Systematic Reviews (PROSPERO) database (CRD42024622404), followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A comprehensive search of PubMed/MEDLINE, Cochrane Central Register of Controlled Trials, SCOPUS, and Web of Science was conducted, involving studies published up to January 2024.
Results
The initial search has identified 2065 studies. After removing duplicates, 1885 studies were assessed, and 1840 were excluded based on title and abstract review. A total of 45 full-text articles were retrieved and evaluated. Five studies met the inclusion criteria: 1 randomized controlled trial (RCT), 3 prospective observational studies, and 1 retrospective study. Following the risk of bias evaluation, no studies were excluded, though many were classified as medium or high risk.
Conclusions
An interimplant distance of at least 3 mm is essential for the preservation of marginal bone levels and the support of soft tissue health, emphasizing its relevance in implant planning for optimal clinical outcomes
Experimental Assessment of a Smart Skin for Temperature Monitoring During Superficial Microwave Hyperthermia
No full textFinding diameter-reducing shortcuts in trees
Get PDFIn the k-Diameter-Optimally Augmenting Tree Problem we are given a tree T of n vertices embedded in an unknown metric space. An oracle can report the cost of any edge in constant time, and we want to augment T with k shortcuts to minimize the resulting diameter. When k = 1, O(n log n)-time algorithms exist for paths and trees. We show that o(n(2)) queries cannot provide a better than 10/9-approximation for trees when k >= 3. For any constant epsilon > 0, we design a linear-time (1 + epsilon)-approximation algorithm for paths when k = o(root logn), thus establishing a dichotomy between paths and trees for k >= 3. Our algorithm employs an ad-hoc data structure, which we also use in a linear-time 4approximation algorithm for trees, and to compute the diameter of (possibly non-metric) graphs with n + k - 1 edges in time O (nk log n). (c) 2025 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)
A New Computer-Based Method for Digital Reconstruction of Archeological Bells from the Fragments of Their Casting Mantle
No full textThe shape and tuning of bells provide helpful information about where the instrument was manufactured or located and the casting and tuning processes used. For this purpose, both shapes catalogues and methodologies for physical modelling and simulations of musical instruments’ dynamical behaviour are presented in the literature. In several areas of the world, medieval or Renaissance bells are rare because of the remelting of the vast majority of specimens following fractures or breaks caused by wear and tear or traumatic events, such as earthquakes. As a result, the original geometric shape can only be reconstructed by analysing the relevant melting pots excavated by archaeological campaigns. Traditionally, such an analysis is carried out manually by archaeologists. The results are blurred by the difficulty in determining the axis of symmetry and the profiles of small fragments; furthermore, the fragments can rarely be reassembled on the fracture surfaces. To address these drawbacks, this research suggests a computer-based method for virtually reconstructing the bell shape from mantle fragments. Based on a specifically designed geometric-differential analysis of the discrete models of the pieces acquired with a 3D scanner, the approach aims to rebuild the bell’s three-dimensional shape from the definition of its two-dimensional profile
Mechanical Thrombectomy in Prestroke Disability: Data From the Italian Endovascular Stroke Registry
Get PDFBACKGROUND: The benefits and safety of mechanical thrombectomy (MT) in patients with prestroke disability, classified as modified Rankin Scale (mRS) score of 3 to 4, and anterior circulation stroke remain uncertain. This study aims to evaluate these factors using data from the Italian Registry of Endovascular Treatment in Acute Stroke. METHODS: We analyzed data collected between 2015 and 2021, comparing functional outcomes (mRS), symptomatic intracerebral hemorrhage, and recanalization rates (Thrombolysis in Cerebral Infarction) at 90 days post-MT in patients with prestroke mRS score of 3 to 4 versus 0 to 2. A good outcome was defined as no change in the mRS score from baseline. Subgroup analysis was stratified by age. RESULTS: A total of 11.411 (96%) patients with prestroke mRS score of 0 to 2 and 477 (4%) patients with prestroke mRS score of 3 to 4 were included. Compared with patients with a baseline mRS score 0 to 2, those with mRS score 3 to 4 were older (82 versus 75 years; P<0.001) and predominantly female (71.7% versus 53%; P<0.001). The maintenance of the same mRS score after MT was observed in 100 (23.3%) patients with prestroke mRS score 3 to 4, compared with 2332 (22.1%) patients with mRS score 0 to 2 (P=0.556). Mortality was significantly higher in the mRS score 3 to 4 group (n=159 [37.1%] versus n=1939 [18.4%]; P<0.001). Successful recanalization (Thrombolysis in Cerebral Infarction score ≥2b) was lower in the mRS score 3 to 4 group (n=333 [71.6%] versus n=8706 [77.7%]; P=0.002), while no significant differences in symptomatic intracerebral hemorrhage were found. The benefit of MT was maintained in patients aged 80 to 85 and over 85 years with prestroke mRS score 3 to 4, although mortality remained higher. CONCLUSIONS: Our data suggest that prestroke disability does not imply less chance of returning to prestroke conditions after MT, even in octogenarians, despite higher mortality and lower recanalization rate. More data are warranted to better understand the benefit of MT in this subgroup of patients
Closed-Loop Pressure Control of a Soft Pneumatic Actuator by a 3/2 Solenoid Digital Valve
No full textSeveral studies have been conducted to develop innovative solutions for satisfying industrial requirements. In soft pneumatic actuators (SPAs), which use compressed air for actuation, the air inlet/outlet is typically provided by proportional-pressure-control valves. According to the latest proposals found in the literature, replacing the latter with lighter and cheaper 2/2 or 3/2 digital solenoid valves is challenging. PI, PID, and sliding mode controllers have been proposed to achieve this goal. The performance of these controllers is often influenced by the identification of analytical models under simplifying assumptions. This paper proposes an analytical model to describe the charging and discharging of the SPA by experimentally identifying the lumped parameters of the corresponding pneumatic circuit. Both the chocked mass flow condition and the variations of the time constants were considered in the model. A closed-loop fuzzy controller is developed and simulated in MATLAB Simulink environment. The controller manages a square waveform command signal's duty cycle (DC) for a 3/2 digital solenoid valve by the pulse width modulation (PWM) technique with charge and discharge asymmetry compensation. Numerical results show the proposal's effectiveness for constant reference pressures and reference pressure-time sequences