Ultra-steep side facets in multi-faceted SiGe/Si(001) Stranski-Krastanow islands

For the prototypical Ge/Si(001) system, we show that at high growth temperature a new type of Stranski-Krastanow islands is formed with side facets steeper than {111} and high aspect ratio. Nano-goniometric analysis of the island shapes reveals the presence of six new facet groups in addition to those previously found for dome or barn-shaped islands. Due to the highly multi-faceted island shape and high aspect ratio, the new island types are named "cupola" islands and their steepest {12 5 3} side facet is inclined by 68°to the substrate surface. Assessing the relative stability of the new facets from surface area analysis, we find that their stability is similar to that of {113} and {15 3 23} facets of dome islands. The comparison of the different island shapes shows that they form a hierarchical class of geometrical structures, in which the lower aspect ratio islands of barns, domes and pyramids are directly derived from the cupola islands by successive truncation of the pedestal bases without facet rearrangements. The results underline the key role of surface faceting in the process of island formation, which is as crucial for understanding the island's growth evolution as it is important for device applications

Glucokinase Gene Mutations: Structural and Genotype-Phenotype Analyses in MODY Children from South Italy

BACKGROUND: Maturity onset diabetes of the young type 2 (or GCK MODY) is a genetic form of diabetes mellitus provoked by mutations in the glucokinase gene (GCK). METHODOLOGY/PRINCIPAL FINDINGS: We screened the GCK gene by direct sequencing in 30 patients from South Italy with suspected MODY. The mutation-induced structural alterations in the protein were analyzed by molecular modeling. The patients' biochemical, clinical and anamnestic data were obtained. Mutations were detected in 16/30 patients (53%); 9 of the 12 mutations identified were novel (p.Glu70Asp, p.Phe123Leu, p.Asp132Asn, p.His137Asp, p.Gly162Asp, p.Thr168Ala, p.Arg392Ser, p.Glu290X, p.Gln106_Met107delinsLeu) and are in regions involved in structural rearrangements required for catalysis. The prevalence of mutation sites was higher in the small domain (7/12: approximately 59%) than in the large (4/12: 33%) domain or in the connection (1/12: 8%) region of the protein. Mild diabetic phenotypes were detected in almost all patients [mean (SD) OGTT = 7.8 mMol/L (1.8)] and mean triglyceride levels were lower in mutated than in unmutated GCK patients (p = 0.04). CONCLUSIONS: The prevalence of GCK MODY is high in southern Italy, and the GCK small domain is a hot spot for MODY mutations. Both the severity of the GCK mutation and the genetic background seem to play a relevant role in the GCK MODY phenotype. Indeed, a partial genotype-phenotype correlation was identified in related patients (3 pairs of siblings) but not in two unrelated children bearing the same mutation. Thus, the molecular approach allows the physician to confirm the diagnosis and to predict severity of the mutation

Treatment success for overactive bladder with urinary urge incontinence refractory to oral antimuscarinics: a review of published evidence

<p>Abstract</p> <p>Background</p> <p>Treatment options for overactive bladder (OAB) with urinary urge incontinence (UUI) refractory to oral antimuscarinics include: botulinum toxin type A (BoNTA), sacral neuromodulation (SNM), and augmentation cystoplasty (AC). A standard treatment success metric that can be used in both clinical and economic evaluations of the above interventions has not emerged. Our objective was to conduct a literature review and synthesis of published measures of treatment success for OAB with UUI interventions and to identify a treatment success outcome.</p> <p>Methods</p> <p>We performed a literature review of primary studies that used a definition of treatment success in the OAB with UUI population receiving BoNTA, SNM, or AC. The recommended success outcome was compared to generic and disease-specific health-related quality-of-life (HRQoL) measures using data from a BoNTA treatment study of neurogenic incontinent patients.</p> <p>Results</p> <p>Across all interventions, success outcomes included: complete continence (n = 23, 44%), ≥ 50% improvement in incontinence episodes (n = 16, 31%), and subjective improvement (n = 13, 25%). We recommend the OAB with UUI treatment success outcome of ≥ 50% improvement in incontinence episodes from baseline. Using data from a neurogenic BoNTA treatment study, the average change in the Incontinence Quality of Life questionnaire was 8.8 (95% CI: -4.7, 22.3) higher for those that succeeded (N = 25) versus those that failed (N = 26). The average change in the SF-6D preference score was 0.07 (95% CI: 0.02, 0.12) higher for those that succeeded versus those that failed.</p> <p>Conclusion</p> <p>A treatment success definition that encompasses the many components of underlying OAB with UUI symptoms is currently not practical as a consequence of difficulties in measuring urgency. The treatment success outcome of ≥ 50% improvement in incontinence episodes was associated with a clinically meaningful improvement in disease-specific HRQoL for those with neurogenic OAB with UUI. The recommended success definition is less restrictive than a measure such as complete continence but includes patients who are satisfied with treatment and experience meaningful improvement in symptoms. A standardized measure of treatment success will be useful in clinical and health economic applications.</p

Making machine intelligence less scary for criminal analysts: reflections on designing a visual comparative case analysis tool

A fundamental task in Criminal Intelligence Analysis is to analyze the similarity of crime cases, called CCA, to identify common crime patterns and to reason about unsolved crimes. Typically, the data is complex and high dimensional and the use of complex analytical processes would be appropriate. State-of-the-art CCA tools lack flexibility in interactive data exploration and fall short of computational transparency in terms of revealing alternative methods and results. In this paper, we report on the design of the Concept Explorer, a flexible, transparent and interactive CCA system. During this design process, we observed that most criminal analysts are not able to understand the underlying complex technical processes, which decrease the users' trust in the results and hence a reluctance to use the tool}. Our CCA solution implements a computational pipeline together with a visual platform that allows the analysts to interact with each stage of the analysis process and to validate the result. The proposed Visual Analytics workflow iteratively supports the interpretation of the results of clustering with the respective feature relations, the development of alternative models, as well as cluster verification. The visualizations offer an understandable and usable way for the analyst to provide feedback to the system and to observe the impact of their interactions. Expert feedback confirmed that our user-centred design decisions made this computational complexity less scary to criminal analysts

Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.

Importance Guidelines for clinical management in Li-Fraumeni syndrome, a multiple-organ cancer predisposition condition, are limited. Whole-body magnetic resonance imaging (WBMRI) may play a role in surveillance of this high-risk population.Objective To assess the clinical utility of WBMRI in germline TP53 mutation carriers at baseline.Data sources Clinical and research surveillance cohorts were identified through the Li-Fraumeni Exploration Research Consortium.Study selection Cohorts that incorporated WBMRI for individuals with germline TP53 mutations from January 1, 2004, through October 1, 2016, were included.Data extraction and synthesis Data were extracted by investigators from each cohort independently and synthesized by 2 investigators. Random-effects meta-analysis methods were used to estimate proportions.Main outcomes and measures The proportions of participants at baseline in whom a lesion was detected that required follow-up and in whom a new primary malignant neoplasm was detected.Results A total of 578 participants (376 female [65.1%] and 202 male [34.9%]; mean [SD] age, 33.2 [17.1] years) from 13 cohorts in 6 countries were included in the analysis. Two hundred twenty-five lesions requiring clinical follow-up were detected by WBMRI in 173 participants. Sixty-one lesions were diagnosed in 54 individuals as benign or malignant neoplasms. Overall, 42 cancers were identified in 39 individuals, with 35 new localized cancers treated with curative intent. The overall estimated detection rate for new, localized primary cancers was 7% (95% CI, 5%-9%).Conclusions and relevance These data suggest clinical utility of baseline WBMRI in TP53 germline mutation carriers and may form an integral part of baseline clinical risk management in this high-risk population

How to design for transformation of behavior through interactive materiality

This paper presents a design approach tackling the transformation of behavior through ‘interactive materiality’ from a phenomenological perspective. It builds upon the Interaction Frogger framework that couples action to reaction for intuitive mapping in intelligent product interaction. Through the discussion of two research-through-design cases, the augmented speed-skate experience and affective pen, it highlights the opportunities for design of an action-perception loop. Consequently, an approach is suggested that defines three steps to be incorporated in the design process: affirming and appreciating current behavior; designing continuous mapping for transformation; and fine-tuning sensitivities in the interactive materiality. Thereby, it discusses how behavior transformation through interactive materiality derived from a theoretical level, can contribute to design knowledge on the implementation level. The aim of this paper is to inspire design-thinking to shift from the cognitive approach of persuasion, to a meaningful and embodied mechanism respecting all human skills, by providing practical insights for designers