3D models for mohs micrographic surgery: a review on its use in patient education.

The use of a 3D model for patient education has shown encouraging results in surgical specialties like plastic surgery and neurosurgery, amongst many others; however, there is limited research on the clinical application of 3D models for Mohs Micrographic Surgery. This study delves into the utilization of 3D models for patient education in Mohs Surgery by juxtaposing different 3D modalities, highlighting their differences, and exploring potential avenues for future integration of 3D models into clinical practice. A literature search in the scientific database MEDLINE through PubMed and OVID and on the ProQuest Health & Medical Collection database was performed on the use of a 3D model for patient education. We limited the search to articles available in English and considered those mentioning the educational use of 3D models, especially for patient education, after excluding duplicate titles. We did not exclude articles based on publication year due to limited availability of literature. Utilizing 3D models for patient education within the framework of Mohs Micrographic surgery, including a 3D multicolored clay model and a 3D model accompanied by an educational video intervention, presents substantial advantages. 3D models offer a visual and tactile means to improve patients' comprehension of the Mohs procedure, the affected area, and possible outcomes. They hold the potential to reduce patient anxiety and improve decision-making. Currently, literature on the use of 3D models for patient education in Mohs Micrographic Surgery is limited, warranting further research in this area.

Perioperative strategies and management of giant anterior mediastinal tumors: a narrative review.

Background and Objective: Giant anterior mediastinal tumors sometimes may cause circulatory collapse and respiratory failure, known as mediastinal mass syndrome (MMS). The prediction and prevention of MMS is challenging. The aim of this study is to summarize the evaluation methods for MMS and formulate treatment strategies for giant anterior mediastinal tumors. Methods: We performed a thorough analysis of recent international literature on giant anterior mediastinal tumors (>10 cm in diameter) and MMS published in the PubMed database. The search spanned the duration of the preceding 10 years from August 19, 2023, and only studies published in English were included. Key Content and Findings: Mature teratomas and liposarcomas are the most common giant anterior mediastinal tumors and MMS develops most frequently in case of malignant lymphomas. Here, we propose a new treatment strategy for giant anterior mediastinal tumors. Based on imaging findings, giant anterior mediastinal tumors can be classified as cystic or solid and further blood investigation data are useful for a definitive diagnosis. When malignant lymphoma or malignant germ cell tumor is highly suspected, the first choice of treatment is not surgery but chemotherapy and radiotherapy. Moreover, image-guided drainage may be effective if giant cystic anterior tumors develop into MMS. The risk classification of MMS is important for treating giant anterior mediastinal tumors. If the MMS risk classification is 'unsafe' or 'uncertain', the intraoperative management deserves special attention. The surgical approach should however be based on tumor localization and invasion of surrounding tissues. Multidisciplinary team coordination is indispensable in the treatment of giant anterior mediastinal tumors. Conclusions: When giant anterior mediastinal tumors are encountered, it is important to follow the appropriate treatment strategy, focusing on the development of MMS based on imaging findings and symptoms.

The Mms22-Rtt107 axis dampens the DNA damage checkpoint by reducing the stability of the Rad9 checkpoint mediator.

The DNA damage checkpoint is a highly conserved signaling pathway induced by genotoxin exposure or endogenous genome stress. It alters many cellular processes such as arresting the cell cycle progression and increasing DNA repair capacities. However, cells can downregulate the checkpoint after prolonged stress exposure to allow continued growth and alternative repair. Strategies that can dampen the DNA damage checkpoint are not well understood. Here, we report that budding yeast employs a pathway composed of the scaffold protein Rtt107, its binding partner Mms22, and an Mms22-associated ubiquitin ligase complex to downregulate the DNA damage checkpoint. Mechanistically, this pathway promotes the proteasomal degradation of a key checkpoint factor, Rad9. Furthermore, Rtt107 binding to Mms22 helps to enrich the ubiquitin ligase complex on chromatin and target the chromatin-bound form of Rad9. Finally, we provide evidence that the Rtt107-Mms22 axis operates in parallel with the Rtt107-Slx4 axis, which displaces Rad9 from chromatin. We thus propose that Rtt107 enables a bifurcated "anti-Rad9" strategy to optimally downregulate the DNA damage checkpoint.

Crucial role of the NSE1 RING domain in Smc5/6 stability and FANCM-independent fork progression.

The Smc5/6 complex is a highly conserved molecular machine involved in the maintenance of genome integrity. While its functions largely depend on restraining the fork remodeling activity of Mph1 in yeast, the presence of an analogous Smc5/6-FANCM regulation in humans remains unknown. We generated human cell lines harboring mutations in the NSE1 subunit of the Smc5/6 complex. Point mutations or truncations in the RING domain of NSE1 result in drastically reduced Smc5/6 protein levels, with differential contribution of the two zinc-coordinating centers in the RING. In addition, nse1-RING mutant cells display cell growth defects, reduced replication fork rates, and increased genomic instability. Notably, our findings uncover a synthetic sick interaction between Smc5/6 and FANCM and show that Smc5/6 controls fork progression and chromosome disjunction in a FANCM-independent manner. Overall, our study demonstrates that the NSE1 RING domain plays vital roles in Smc5/6 complex stability and fork progression through pathways that are not evolutionary conserved.

Comparative Analysis of Slow Mohs Surgery in Melanoma and Mohs Micrographic Surgery in Squamous Cell Carcinoma and Basal Cell Carcinoma.

Skin cancer is one of the most common types of cancer worldwide, and it can affect people of all ages, races, and genders. Mohs micrographic surgery (MMS), a specialized type of skin cancer surgery, boasts the highest cure rates for various types of skin malignancies. Slow Mohs surgery (SMS) is a methodical and meticulous approach to MMS that involves careful and deliberate examination of tissue samples to ensure the complete removal of skin cancer while preserving as much healthy tissue as possible. Both SMS and MMS have been indicated to be effective treatment options for skin cancer, depending on the type and stage of cancer. This case-control study analysis compares the efficacy of SMS for melanoma with that of MMS for squamous cell carcinoma (SCC) and basal cell carcinoma (BCC). We analyzed data from the past two decades to assess recurrence rates and treatment-related complications. Our findings suggest that SMS for melanoma achieves comparable outcomes to MMS in SCC and BCC. Both approaches demonstrated similar cure rates and complication profiles. However, further prospective studies are necessary to solidify these findings and refine the specific role of SMS in melanoma therapy.

Intrinsic and extrinsic determinants of conditional localization of Mms6 to magnetosome organelles in Magnetospirillum magneticum AMB-1.

Magnetotactic bacteria are a diverse group of microbes that use magnetic particles housed within intracellular lipid-bounded magnetosome organelles to guide navigation along geomagnetic fields. The development of magnetosomes and their magnetic crystals in Magnetospirillum magneticum AMB-1 requires the coordinated action of numerous proteins. Most proteins are thought to localize to magnetosomes during the initial stages of organelle biogenesis, regardless of environmental conditions. However, the magnetite-shaping protein Mms6 is only found in magnetosomes that contain magnetic particles, suggesting that it might conditionally localize after the formation of magnetosome membranes. The mechanisms for this unusual mode of localization to magnetosomes are unclear. Here, using pulse-chase labeling, we show that Mms6 translated under non-biomineralization conditions translocates to pre-formed magnetosomes when cells are shifted to biomineralizing conditions. Genes essential for magnetite production, namely mamE, mamM, and mamO, are necessary for Mms6 localization, whereas mamN inhibits Mms6 localization. MamD localization was also investigated and found to be controlled by similar cellular factors. The membrane localization of Mms6 is dependent on a glycine-leucine repeat region, while the N-terminal domain of Mms6 is necessary for retention in the cytosol and impacts conditional localization to magnetosomes. The N-terminal domain is also sufficient to impart conditional magnetosome localization to MmsF, altering its native constitutive magnetosome localization. Our work illuminates an alternative mode of protein localization to magnetosomes in which Mms6 and MamD are excluded from magnetosomes by MamN until biomineralization initiates, whereupon they translocate into magnetosome membranes to control the development of growing magnetite crystals.IMPORTANCEMagnetotactic bacteria (MTB) are a diverse group of bacteria that form magnetic nanoparticles surrounded by membranous organelles. MTB are widespread and serve as a model for bacterial organelle formation and biomineralization. Magnetosomes require a specific cohort of proteins to enable magnetite formation, but how those proteins are localized to magnetosome membranes is unclear. Here, we investigate protein localization using pulse-chase microscopy and find a system of protein coordination dependent on biomineralization-permissible conditions. In addition, our findings highlight a protein domain that alters the localization behavior of magnetosome proteins. Utilization of this protein domain may provide a synthetic route for conditional functionalization of magnetosomes for biotechnological applications.

Mohs micrographic surgery in the surgical treatment paradigm of melanoma in situ and invasive melanoma: A clinical review of treatment efficacy and ongoing controversies.

Mohs Micrographic Surgery (MMS) for treatment of melanoma offers several advantages over wide local excision (WLE), including complete histologic margin evaluation, same-day resection and closure, and sparing of healthy tissue in critical anatomic sites. Recently, a large volume of clinical data demonstrating efficacy in MMS treatment of melanoma was published, leading to emerging patient safety considerations of incurred treatment costs, risk of tumor upstaging, and failure of care coordination for sentinel lymph node biopsy (SLNB). MMS offers a safe, effective, and value-based treatment for both melanoma in situ (MIS) and invasive melanoma (IM), particularly with immunohistochemistry use on frozen sections. Compared to wide local excision, MMS treatment demonstrates similar or improved outcomes for local tumor recurrence, melanoma-specific survival, and overall survival at long-term follow-up. Tumor upstaging risk is low, and if present, alteration to clinical management is minimal. Discussion of SLNB for eligible head and neck IM cases should be done prior to MMS. Though challenging, successful multidisciplinary coordination of SLNB with MMS has been demonstrated. Herein, we provide a detailed clinical review of evidence for MMS treatment of cutaneous melanoma and offer recommendations to address current controversies surrounding the evolving paradigm of surgical management for both MIS and invasive melanoma (IM).

Iron­sulfur clusters in viral proteins: Exploring their elusive nature, roles and new avenues for targeting infections.

Viruses have evolved complex mechanisms to exploit host factors for replication and assembly. In response, host cells have developed strategies to block viruses, engaging in a continuous co-evolutionary battle. This dynamic interaction often revolves around the competition for essential resources necessary for both host cell and virus replication. Notably, iron, required for the biosynthesis of several cofactors, including iron­sulfur (FeS) clusters, represents a critical element in the ongoing competition for resources between infectious agents and host. Although several recent studies have identified FeS cofactors at the core of virus replication machineries, our understanding of their specific roles and the cellular processes responsible for their incorporation into viral proteins remains limited. This review aims to consolidate our current knowledge of viral components that have been characterized as FeS proteins and elucidate how viruses harness these versatile cofactors to their benefit. Its objective is also to propose that viruses may depend on incorporation of FeS cofactors more extensively than is currently known. This has the potential to revolutionize our understanding of viral replication, thereby carrying significant implications for the development of strategies to target infections.

Assessment of Fertility Dynamics and Nutritional Quality of Potato Tubers in a Compost-Amended Mars Regolith Simulant.

Mars exploration will foresee the design of bioregenerative life support systems (BLSSs), in which the use/recycle of in situ resources might allow the production of food crops. However, cultivation on the poorly-fertile Mars regolith will be very challenging. To pursue this goal, we grew potato (Solanum tuberosum L.) plants on the MMS-1 Mojave Mars regolith simulant, pure (R100) and mixed with green compost at 30% (R70C30), in a pot in a cold glasshouse with fertigation. For comparison purposes, we also grew plants on a fluvial sand, pure (S100) and amended with 30% of compost (S70C30), a volcanic soil (VS) and a red soil (RS). We studied the fertility dynamics in the substrates over time and the tuber nutritional quality. We investigated nutrient bioavailability and fertility indicators in the substrates and the quality of potato tubers. Plants completed the life cycle on R100 and produced scarce but nutritious tubers, despite many critical simulant properties. The compost supply enhanced the MMS-1 chemical/physical fertility and determined a higher tuber yield of better nutritional quality. This study demonstrated that a compost-amended Mars simulant could be a proper substrate to produce food crops in BLSSs, enabling it to provide similar ecosystem services of the studied terrestrial soils.

The effect of UNIMMAP multiple micronutrient supplements versus iron-folic acid and placebo in anemia reduction among women of reproductive age in Kebribeyah Woreda, Somali Regional State, Ethiopia: a study protocol for a community-based individual RCT.

BACKGROUND: Women of reproductive age (WRA) in developing countries are often at risk of micronutrient deficiencies due to inadequate intakes and excessive losses. OBJECTIVE: The purpose of this trial is to assess the effectiveness of United Nations International Multiple Micronutrient Antenatal Preparation-Multiple Micronutrient Supplements (UNIMMAP-MMS) versus iron-folic acid (IFA) among WRA in reducing anemia. METHODS: Three parallel groups of WRA will participate in a community-based, individually randomized, double-blinded, placebo-controlled superiority trial. After consent, the sample of 375 mildly or moderately anemic women based on hemoglobin by Hemocue will be randomly assigned across two interventions and one control arm. Trial participants in intervention arms will receive UNIMMAP-MMS or IFA while those in the control arm will receive placebos twice a week for 17 weeks. The primary outcome will be a change in mean hemoglobin (Hb) concentrations. Outcome assessors and study participants will be blinded to the type of supplements and study arm. DISCUSSION: The World Health Organization (WHO) added UNIMMAP-MMS to its essential medicine lists in 2021 but recommended rigorous study. Several factors in addition to inadequate intakes of iron and folic acid contribute to the high prevalence of anemia among WRA in the Somali region. The findings of this study will provide evidence on the effect of UNIMMAP-MMS and IFA on Hb concentrations and anemia prevalence among anemic WRA. TRIAL REGISTRATION: ClinicalTrials.gov NCT05682261. Registered on January 12, 2023.

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

PURPOSE: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders of the cytosolic iron-sulfur protein assembly system. METHODS: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome. Studies in patient-derived skin fibroblasts and zebrafish models were performed to investigate the biochemical and cellular consequences. RESULTS: Metabolic analysis showed elevated uracil and thymine levels in body fluids but no pathogenic variants in DPYD, encoding dihydropyrimidine dehydrogenase. Genome sequencing identified compound heterozygosity in 2 patients for missense variants in CIAO1, encoding cytosolic iron-sulfur assembly component 1, and homozygosity for an in-frame 3-nucleotide deletion in MMS19, encoding the MMS19 homolog, cytosolic iron-sulfur assembly component, in the third patient. Profound alterations in the proteome, metabolome, and lipidome were observed in patient-derived fibroblasts. We confirmed the detrimental effect of deficiencies in CIAO1 and MMS19 in zebrafish models. CONCLUSION: A general failure of cytosolic and nuclear iron-sulfur protein maturation caused pleiotropic effects. The critical function of the cytosolic iron-sulfur protein assembly machinery for antiviral host defense may well explain the recurrent severe infections occurring in our patients.

Characterising underwater noise and changes in harbour porpoise behaviour during the decommissioning of an oil and gas platform.

Many man-made marine structures (MMS) will have to be decommissioned in the coming decades. While studies on the impacts of construction of MMS on marine mammals exist, no research has been done on the effects of their decommissioning. The complete removal of an oil and gas platform in Scotland in 2021 provided an opportunity to investigate the response of harbour porpoises to decommissioning. Arrays of broadband noise recorders and echolocation detectors were used to describe noise characteristics produced by decommissioning activities and assess porpoise behaviour. During decommissioning, sound pressure spectral density levels in the frequency range 100 Hz to 48 kHz were 30-40 dB higher than baseline, with vessel presence being the main source of noise. The study detected small-scale (< 2 km) and short-term porpoise displacement during decommissioning, with porpoise occurrence increasing immediately after this. These findings can inform the consenting process for future decommissioning projects.

Developing a taxonomy of hazards and hazard mitigation strategies for Motorised mobility scooter users.

The increased use of motorised mobility scooters (MMSs) presents a road safety challenge as using a MMS has risks for the user, pedestrians, and other road users. In relation to enhancing MMS driving safety, much of the training and available literature focuses on training vehicular control. Equally important is the need to investigate higher-order cognitive skills involved in driving MMSs, particularly hazard perception. Through a large questionnaire study with MMS users, we develop a taxonomy of the types of hazard MMS users encounter when crossing roads and strategies that are used to negotiate these hazards. Whilst MMS experience modulated hazard perception and strategy use, a core set of hazards and strategies were identified that have policy and practice implications for training interventions and the built environment. Exploration of the advantages and disadvantages of MMS use indicated its impact on various wellbeing outcomes as well as some potential barriers to use.

Optimizing Deep Learning for Cardiac MRI Segmentation: The Impact of Automated Slice Range Classification.

RATIONALE AND OBJECTIVES: Cardiac magnetic resonance imaging is crucial for diagnosing cardiovascular diseases, but lengthy postprocessing and manual segmentation can lead to observer bias. Deep learning (DL) has been proposed for automated cardiac segmentation; however, its effectiveness is limited by the slice range selection from base to apex. MATERIALS AND METHODS: In this study, we integrated an automated slice range classification step to identify basal to apical short-axis slices before DL-based segmentation. We employed publicly available Multi-Disease, Multi-View & Multi-Center Right Ventricular Segmentation in Cardiac MRI data set with short-axis cine data from 160 training, 40 validation, and 160 testing cases. Three classification and seven segmentation DL models were studied. The top-performing segmentation model was assessed with and without the classification model. Model validation to compare automated and manual segmentation was performed using Dice score and Hausdorff distance and clinical indices (correlation score and Bland-Altman plots). RESULTS: The combined classification (CBAM-integrated 2D-CNN) and segmentation model (2D-UNet with dilated convolution block) demonstrated superior performance, achieving Dice scores of 0.952 for left ventricle (LV), 0.933 for right ventricle (RV), and 0.875 for myocardium, compared to the stand-alone segmentation model (0.949 for LV, 0.925 for RV, and 0.867 for myocardium). Combined classification and segmentation model showed high correlation (0.92-0.99) with manual segmentation for biventricular volumes, ejection fraction, and myocardial mass. The mean absolute difference (2.8-8.3 mL) for clinical parameters between automated and manual segmentation was within the interobserver variability range, indicating comparable performance to manual annotation. CONCLUSION: Integrating an initial automated slice range classification step into the segmentation process improves the performance of DL-based cardiac chamber segmentation.

Can combined high-resolution vessel wall imaging and multiple post-labeling delay 3D pseudo-continuous arterial spin labeling differentiate moyamoya disease from atherosclerotic moyamoya syndrome?

PURPOSE: To investigate whether moyamoya disease (MMD) and atherosclerotic moyamoya syndrome (AS-MMS) differ in vascular morphology and perfusion characteristics using T1w-CUBE imaging and multiple post-labeling delay 3D pseudo-continuous arterial spin labeling imaging (MP 3D-PcASL), and to explore the potential of the combined techniques for accurate diagnosis of both diseases. METHOD: This prospective study enrolled 51 patients with moyamoya vasculopathy, including 26 with MMD and 25 with AS-MMS. All patients underwent digital subtraction angiography (DSA)/magnetic resonance angiography (MRA), T1w-CUBE imaging, and MP 3D-PCASL examinations. Morphological parameters, including the outer diameter, maximum wall thickness, luminal stenosis morphology, degree of wall enhancement, number of collateral vessels, and perfusion parameters, such as cerebral blood flow (CBF) and arterial transit time (ATT), were measured. After univariate analysis between the two groups, logistic regression models based on the derived parameters of T1w-CUBE imaging, MP 3D-PCASL, and combined imaging were implemented, and receiver operating characteristic (ROC) curves were generated to compare the discriminatory power of the different imaging methods for the diagnosis of MMD. RESULTS: With T1w-CUBE imaging, MMD showed a smaller outer diameter (2.76 ± 0.39 vs. 3.07 ± 0.49 mm) and maximum wall thickness (1.27 ± 0.19 vs. 1.49 ± 0.24 mm) than AS-MMS (both P < 0.05). Using MP 3D-pcASL, the resultant CBF (36.64 ± 14.28 vs. 28.77 ± 8.63 mL/100 g/min) was higher in MMD relative to AS-MMS, while an opposite pattern was shown for ATT (1.61 ± 0.09 vs. 1.72 ± 0.13 s; both P < 0.05). Robust diagnostic efficacies for disease differentiation, confirmed by high areas under the ROC curve (AUCs) (>0.808), were separately shown with T1w-CUBE and MP 3D-pcASL derived parameters. However, the combined multivariate logistic regression model showed optimaldiagnostic efficacy(AUC: 0.938; P < 0.05). CONCLUSIONS: Combined T1w-CUBE imaging and MP 3D-PCASL provides distinctive morphological and functional features to evaluate vessel walls and cerebral perfusion, and might help distinguish MMD from AS-MMS.

The Comet Assay in Drosophila: A Tool to Study Interactions between DNA Repair Systems in DNA Damage Responses In Vivo and Ex Vivo.

The comet assay in Drosophila has been used in the last few years to study DNA damage responses (DDR) in different repair-mutant strains and to compare them to analyze DNA repair. We have used this approach to study interactions between DNA repair pathways in vivo. Additionally, we have implemented an ex vivo comet assay, in which nucleoids from treated and untreated cells were incubated ex vivo with cell-free protein extracts from individuals with distinct repair capacities. Four strains were used: wild-type OregonK (OK), nucleotide excision repair mutant mus201, dmPolQ protein mutant mus308, and the double mutant mus201;mus308. Methyl methanesulfonate (MMS) was used as a genotoxic agent. Both approaches were performed with neuroblasts from third-instar larvae; they detected the effects of the NER and dmPolQ pathways on the DDR to MMS and that they act additively in this response. Additionally, the ex vivo approach quantified that mus201, mus308, and the double mutant mus201;mus308 strains presented, respectively, 21.5%, 52.9%, and 14.8% of OK strain activity over MMS-induced damage. Considering the homology between mammals and Drosophila in repair pathways, the detected additive effect might be extrapolated even to humans, demonstrating that Drosophila might be an excellent model to study interactions between repair pathways.

Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication.

BACKGROUND: With the development of whole-genome sequencing technology, non-invasive prenatal testing (NIPT) has been applied gradually to screen chromosomal microdeletions and microduplications that cannot be detected by traditional karyotyping. However, in NIPT, some false positives and false negatives occur. This study aimed to investigate the applicability of extended NIPT (NIPT-PLUS) in the detection of chromosomal aneuploidy and microdeletion/microduplication syndrome (MMS). METHODS: A total of 452 pregnancies that underwent prenatal diagnostic testing (amniocentesis or chorionic villus sampling) by chromosomal microarray analysis (CMA), were screened by NIPT-PLUS from the peripheral blood sample of the pregnant women. The results of the two tested items were compared and analysed. RESULTS: Of the 452 cases, 335 (74.12%) had positive CMA results, and 117 (25.88%) had no abnormal results. A total of 86 cases of trisomy 21, 18 and 13 and sex chromosome aneuploidy (SCA) were detected by CMA and NIPT-PLUS, with a detection rate of 96.51% (83/86). Among them, the detection rates of T18, T13; 47, XXY; 47, XXX and 47 XYY were 100%, and the detection rates of T21 and 45 XO were 96.55% and 90%, respectively. The detection sensitivity of rare chromosomal trisomy (RAT) was 80% (4/5). The positive predictive values of NIPT-PLUS for chromosome aneuploidy T21, T18 and T13 and for SCA and RAT were 90.32%, 87.50%, 25.00%, 88.89% and 50%, respectively. A total of 249 cases (74.32%) of chromosomal MMS were detected by CMA. The detection rate of NIPT-PLUS was 63.86% (159/249), and 90 cases (36.14%) were missed. The larger the MMS fragment, the higher the NIPT-PLUS detection sensitivity. In addition, most small fragments were of maternal origin. CONCLUSION: The comparison between the CMA and NIPT-PLUS techniques shows that NIPT-PLUS has high sensitivity for detecting chromosomal aneuploidy and chromosomal copy number variations (CNVs) with fragments > 5 M. However, the sensitivity of CNV for fragments < 5 M is low, and the missed detection rate is high. Additionally, confined placental mosaicism and foetal mosaicism are the key factors causing false negatives in NIPT-PLUS, while maternal chromosomal abnormalities and confined placental mosaicism are key contributors to false positives, so appropriate genetic counselling is especially important for pregnant women before and after NIPT-PLUS testing.

Digital Twinning for 20th Century Concrete Heritage: HBIM Cognitive Model for Torino Esposizioni Halls.

In the wide scenario of heritage documentation and conservation, the multi-scale nature of digital models is able to twin the real object, as well as to store information and record investigation results, in order to detect and analyse deformation and materials deterioration, especially from a structural point of view. The contribution proposes an integrated approach for the generation of an n-D enriched model, also called a digital twin, able to support the interdisciplinary investigation process conducted on the site and following the processing of the collected data. Particularly for 20th Century concrete heritage, an integrated approach is required in order to adapt the more consolidated approaches to a new conception of the spaces, where structure and architecture are often coincident. The research plans to present the documentation process for the halls of Torino Esposizioni (Turin, Italy), built in the mid-twentieth century and designed by Pier Luigi Nervi. The HBIM paradigm is explored and expanded in order to fulfil the multi-source data requirements and adapt the consolidated reverse modelling processes based on scan-to-BIM solutions. The most relevant contributions of the research reside in the study of the chances of using and adapting the characteristics of the IFC (Industry Foundation Classes) standard to the archiving needs of the diagnostic investigations results so that the digital twin model can meet the requirements of replicability in the context of the architectural heritage and interoperability with respect to the subsequent intervention phases envisaged by the conservation plan. Another crucial innovation is a proposal of a scan-to-BIM process improved by an automated approach performed by VPL (Visual Programming Languages) contribution. Finally, an online visualisation tool enables the HBIM cognitive system to be accessible and shareable by stakeholders involved in the general conservation process.