The face of Glut1-DS patients : A 3D craniofacial morphometric analysis

Introduction - Glut1 deficiency syndrome (Glut1-DS) is a neurological and metabolic disorder caused by impaired transport of glucose across the blood brain barrier (BBB). Mutations on the SCL2A1 gene encoding the glucose transporter protein in the BBB cause the syndrome, which encompasses epilepsy, movement disorders and mental delay. Such variability of symptoms presents an obstacle to early diagnosis. The patients seem to share some craniofacial features, and identification and quantification of these could help in prompt diagnosis and clinical management. Materials and method - We performed a three-dimensional morphometric analysis of the faces of 11 female Glut1-DS patients using a stereophotogrammetric system. Data were analyzed using both inter-landmark distances and Principal Component Analysis (PCA). Results - Compared to data collected from age-, sex- and ethnicity-matched control subjects, common and homogenous facial features were identified among patients, which were mainly located in the mandible and the eyes. Glut1-DS patients had a more anterior chin; their mandibular body was longer but the rami were shorter, with a reduced gonial angle; they had smaller and down-slanted eyes with a reduced intercanthal distance. Conclusions - This study highlights the importance of morphometric analysis for defining the facial anatomical characteristics of the syndrome better, potentially helping clinicians to diagnose Glut1-DS. Imnproved knowledge of the facial anatomy of these patients can provide insights into their facial and cerebral embryological development, perhaps further clarifying the molecular basis of the syndrome

Lipids in the Interventricular septum (SEP) as promising indicators of cardiovascular (CV) events in hyperglycemic (HG) patients: an in vivo 1H-MRS study

Proton magnetic resonance spectroscopy (1H-MRS) can detect and quantify lipid accumulation in specific myocardial or peri-myocardial districts. Thirty-three patients (20M/13F; BMI 26\ub14 kg/m2; 64\ub110 yrs) with suspect of CV diseases underwent 1.5-T 1H-MRS using a water-suppressed chemical-shift imaging sequence to quantify the lipid profile of SEP, epicardial (EAT), pericardial (PAT), and subcutaneous (SAT) adipose tissues. The integral of the lipid peaks at 0.9, 1.3, 2.0, 5.3 ppm was measured as percentage over the total amount of lipids (Table). A subgroup of 15 subjects were identified as hyperglycemic (HG = 12 impaired-fasting-glucose + 3 diabetics: 121\ub126 mg/dL). Bulk methylene (1.3 ppm) of SEP was higher in HG vs other patients (P=0.047). In HG patients, SEP was positively correlated to glucose, visceral fat, C-reactive protein (Spearman \uf072>0.63, P<0.018); EAT was positively correlated to visceral fat, age, body weight, and inversely to muscular-, fat free-, bone mass (Pearson \uf072<|0.53|, P<0.039). In all subjects, the main lipid peaks correlated with metabolic parameters. 1H-MRS allowed to measure lipid peaks in different adipose compartments with cardiometabolic relevance. SEP resulted a myocardial site associated with biomarkers of secondary heart events in pre/diabetic patients at higher risk of CV episodes. High SEP fat may be proposed as a marker of future CV events

Cone beam computed tomography in implant dentistry: recommendations for clinical use

Background: In implant dentistry, three-dimensional (3D) imaging can be realised by dental cone beam computed tomography (CBCT), offering volumetric data on jaw bones and teeth with relatively low radiation doses and costs. The latter may explain why the market has been steadily growing since the first dental CBCT system appeared two decades ago. More than 85 different CBCT devices are currently available and this exponential growth has created a gap between scientific evidence and existing CBCT machines. Indeed, research for one CBCT machine cannot be automatically applied to other systems. Methods: Supported by a narrative review, recommendations for justified and optimized CBCT imaging in oral implant dentistry are provided. Results: The huge range in dose and diagnostic image quality requires further optimization and justification prior to clinical use. Yet, indications in implant dentistry may go beyond diagnostics. In fact, the inherent 3D datasets may further allow surgical planning and transfer to surgery via 3D printing or navigation. Nonetheless, effective radiation doses of distinct dental CBCT machines and protocols may largely vary with equivalent doses ranging between 2 to 200 panoramic radiographs, even for similar indications. Likewise, such variation is also noticed for diagnostic image quality, which reveals a massive variability amongst CBCT technologies and exposure protocols. For anatomical model making, the so-called segmentation accuracy may reach up to 200 μm, but considering wide variations in machine performance, larger inaccuracies may apply. This also holds true for linear measures, with accuracies of 200 μm being feasible, while sometimes fivefold inaccuracy levels may be reached. Diagnostic image quality may also be dramatically hampered by patient factors, such as motion and metal artefacts. Apart from radiodiagnostic possibilities, CBCT may offer a huge therapeutic potential, related to surgical guides and further prosthetic rehabilitation. Those additional opportunities may surely clarify part of the success of using CBCT for presurgical implant planning and its transfer to surgery and prosthetic solutions. Conclusions: Hence, dental CBCT could be justified for presurgical diagnosis, preoperative planning and peroperative transfer for oral implant rehabilitation, whilst striving for optimisation of CBCT based machine-dependent, patient-specific and indication-oriented variables

In-vitro quantification of the impact of artifacts on metal segmentation and image quality with varying CBCTs, materials and field of views

Objective: To quantify the amount of metal artifact in CBCT images in varying CBCT devices, metal materials and FOVs. Materials and Methods: Three phantoms made with acrylic resin and containing each one 3 metal cylinders of different materials (titanium, cupper-aluminum alloy and amalgam) were imaged scanned using 3 different CBCT devices and 2 FOVs, with a spatial resolution of 0.2 mm. DICOM images were exported for further image processing with MATLAB software. After the segmentation of the metal cylinders and registration of the image volumes, the same ROI was defined for each pair images acquired with different FOV. The difference between the segmented and the real volume of the metal cylinder was evaluated. Moreover, artifacts on the background were assessed by measuring the normalized standard deviation of voxel values in three different ROIs around the metal object. Results: Overestimation of the segmented volume was observed for all CBCTs devices and materials. Within the materials, amalgam and titanium generated, respectively, more and less artifacts in all images. Standard deviation values varied differently between the three ROIs in each device. Conclusion: Different CBCT devices, materials and FOVs should be considered while evaluating CBCT images when metal objects are scanned. In particular, the segmentation of the metal object is highly influenced by the device and material factor. Regarding the background noise, the CBCT devices and the FOV size have more influence on the amount of artifact then the materials

The Labial Aging Process : A Surface Analysis-Based Three-Dimensional Evaluation

Background: With increasing age, the smile becomes elongated and less appealing. Currently, several methods are proposed for analysis of lip morphology including lateral cephalograms, profile and frontal photographs, video images, and three-dimensional systems. Despite several descriptions of morphologic and histologic age-related changes in the literature, no scientific well-supported model of the labial aging process is reported. Methods: For this study, 33 healthy volunteers were selected and divided into two groups according to age: a youthful group (ages 21-34 years) and an aged group (ages 45-65 years). Their dental and labial stone casts were obtained, digitized, and virtually reproduced using a computerized electromechanical digitizer and applying nonuniform rational B-spline geometry. To obtain a synthetic parameter describing local surface deformation, average curvature and curvature variability indexes were computed and compared. Results: No significant age- or sex-related differences in the average curvature were detected. In contrast, the curvature variability was significantly greater in the young than in the aged subjects. Conclusions: The labial arch surface remains macroscopically constant between the third and the sixth decades of life, but with local modifications that influence the standard deviation of its curvature. A high standard deviation described the protruding labial appearance of the young subjects, whereas a reduced one described the flat lips of the aged subjects. Level of Evidence IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266

Semiquantitative score of breast arterial calcifications on mammography (BAC-SS): intra- and inter-reader reproducibility

Background: Breast arterial calcifications (BAC), representing Mönckeberg's sclerosis of the tunica media of breast arteries, are an imaging biomarker for cardiovascular risk stratification in the female population. Our aim was to estimate the intra- A nd inter-reader reproducibility of a semiquantitative score for BAC assessment (BAC-SS). Methods: Consecutive women who underwent screening mammography at our center from January 1st to January 31st, 2018 were retrieved and included according to BAC presence. Two readers (R1 and R2) independently applied the BAC-SS to medio-lateral oblique views, obtaining a BAC score by summing: (I) number of calcified vessels (from 0 to n); (II) vessel opacification, i.e., the degree of artery coverage by calcium bright pixels (0 or 1); and (III) length class of calcified vessels (from 0 to 4). R1 repeated the assessment 2 weeks later. Scoring time was recorded. Cohen's κ statistics and Bland-Altman analysis were used. Results: Among 408 women, 57 (14%) had BAC; 114 medio-lateral oblique views were assessed. Median BAC score was 4 [interquartile range (IQR): 3-6] for R1 and 4 (IQR: 2-6) for R2 (P=0.417) while median scoring time was 156 s (IQR: 99-314 s) for R1 and 191 s (IQR: 137-292 s) for R2 (P=0.743). Bland-Altman analysis showed a 77% intra-reader reproducibility [bias: 0.193, coefficient of repeatability (CoR): 0.955] and a 64% inter-reader reproducibility (bias: 0.211, CoR: 1.516). Cohen's κ for BAC presence was 0.968 for intra-reader agreement and 0.937 for inter-reader agreement. Conclusions: Our BAC-SS has a good intra- A nd inter-reader reproducibility, within acceptable scoring times. A large-scale study is warranted to test its ability to stratify cardiovascular risk in women

Erratum to: A Quantitative Analysis of Lip Aesthetics: The Influence of Gender and Aging [Aesthetic Plastic Surgery, DOI:10.1007/s00266-015-0495-7]

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