126 research outputs found
A Review of the Role of Causality in Developing Trustworthy AI Systems
State-of-the-art AI models largely lack an understanding of the cause-effect
relationship that governs human understanding of the real world. Consequently,
these models do not generalize to unseen data, often produce unfair results,
and are difficult to interpret. This has led to efforts to improve the
trustworthiness aspects of AI models. Recently, causal modeling and inference
methods have emerged as powerful tools. This review aims to provide the reader
with an overview of causal methods that have been developed to improve the
trustworthiness of AI models. We hope that our contribution will motivate
future research on causality-based solutions for trustworthy AI.Comment: 55 pages, 8 figures. Under revie
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction
The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE. Additionally, our studies also highlight a potential new role for PRUNE during microtubule polymerization, which is essential for the cytoskeletal rearrangements that occur during cellular division and proliferation. Together these studies define PRUNE as a molecule fundamental for normal human cortical development and define cellular and clinical consequences associated with PRUNE mutation
Validation of an iPad activity to measure preschool children’s food and physical activity knowledge and preferences
Overview of the techniques used for the study of non-terrestrial bodies: Proposition of novel non-destructive methodology
Meteorites and impact glasses have been largely analysed using different techniques, but most studies
have been focused on their geologicalemineralogical characterization and isotopic ratios, mainly of a
destructive nature. However, much more information can be gained by applying novel non-destructive
analytical procedures and techniques that have been scarcely used to analyse these materials. This
overview presents some new methodologies to study these materials and compares these new approaches
with the commonly used ones. Techniques such as X-Ray Fluorescence (XRF) and Laser Induced
Breakdown Spectroscopy (LIBS), for elemental characterization, the hyphenated Raman spectroscopy-
SEM/EDS and the combination of them, allow extracting simultaneous information from elemental,
molecular and structural data of the studied sample; furthermore, the spectroscopic image capabilities of
such techniques allow a better understanding of the mineralogical distribution.
© 2017 Elsevier B.V. All rights reserved.Ministerio de Economía, Industria y Competitividad (project ESP2014-56138-C3-2-R
Applications of yeast flocculation in biotechnological processes
A review on the main aspects associated with yeast flocculation and its application
in biotechnological processes is presented. This subject is addressed following three
main aspects – the basics of yeast flocculation, the development of “new” flocculating yeast
strains and bioreactor development. In what concerns the basics of yeast flocculation, the
state of the art on the most relevant aspects of mechanism, physiology and genetics of yeast
flocculation is reported. The construction of flocculating yeast strains includes not only the
recombinant constitutive flocculent brewer’s yeast, but also recombinant flocculent yeast
for lactose metabolisation and ethanol production. Furthermore, recent work on the
heterologous β-galactosidase production using a recombinant flocculent Saccharomyces
cerevisiae is considered. As bioreactors using flocculating yeast cells have particular properties,
mainly associated with a high solid phase hold-up, a section dedicated to its operation is
presented. Aspects such as bioreactor productivity and culture stability as well as bioreactor
hydrodynamics and mass transfer properties of flocculating cell cultures are considered.
Finally, the paper concludes describing some of the applications of high cell density
flocculation bioreactors and discussing potential new uses of these systems.Fundação para a Ciência e a Tecnologia (FCT) – PRAXIS XXI - BD11306/97
Physicochemical Characterization of Passive Films and Corrosion Layers by Differential Admittance and Photocurrent Spectroscopy
Two different electrochemical techniques, differential admittance and photocurrent spectroscopy, for the characterization of electronic and solid state properties of passive films and corrosion layers are described and critically evaluated. In order to get information on the electronic properties of passive film and corrosion layers as well as the necessary information to locate the characteristic energy levels of the passive film/electrolyte junction like: flat band potential (Ufb), conduction band edge (EC) or valence band edge (EV), a wide use of Mott-Schottky plots is usually reported in corrosion science and passivity studies. It has been shown, in several papers, that the use of simple M-S theory to get information on the electronic properties and energy levels location at the film/electrolyte interface can be seriously misleading and/or conflicting with the physical basis underlying the M-S theory. A critical appraisal of this approach to the study of very thin and thick anodic passive film grown on base-metals (Cr, Ni, Fe, SS etc..) or on valve metals (Ta, Nb, W etc..) is reported in this work, together with possible alternative approach to overcome some of the mentioned inconsistencies. At this aim the theory of amorphous semiconductor Schottky barrier, introduced several years ago in the study of passive film/electrolyte junction, is reviewed by taking into account some of the more recent results obtained by the present authors. Future developments of the theory appears necessary to get more exact quantitative information on the electronic properties of passive films, specially in the case of very thin film like those formed on base metals and their alloys.
The second technique described in this chapter, devoted to the physico-chemical characterization of passive film and corrosion layers, is a more recent technique based on the analysis of the photo-electrochemical answer of passive film/electrolyte junction under illumination with photons having suitable energy. Such a technique usually referred to as Photocurrent Spectroscopy (PCS) has been developed on the basis of the large research effort carried out by several groups in the 1970’s and aimed to investigate the possible conversion of solar energy by means of electrochemical cells. In this work the fundamentals of semiconductor/electrolyte junctions under illumination will be highlighted both for crystalline and amorphous materials. The role of amorphous nature and film thickness on the photo-electrochemical answer of passive film/solution interface is reviewed as well the use of PCS for quantitative analysis of the film composition based on a semi-empirical correlation between optical band gap and difference of electronegativity of film constituents previously suggested by the present authors. In this frame the results of PCS studies on valve metal oxides and valve metal mixed oxides will be discussed in order to show the validity of the proposed method. The results of PCS studies aimed to get information on passive film composition and carried out by different authors on base metals (Fe, Cr, Ni) and their alloys, including stainless steel, will be also compared with compositional analysis carried out by well-established surface analysis techniques
Global patient outcomes after elective surgery: prospective cohort study in 27 low-, middle- and high-income countries.
BACKGROUND: As global initiatives increase patient access to surgical treatments, there remains a need to understand the adverse effects of surgery and define appropriate levels of perioperative care. METHODS: We designed a prospective international 7-day cohort study of outcomes following elective adult inpatient surgery in 27 countries. The primary outcome was in-hospital complications. Secondary outcomes were death following a complication (failure to rescue) and death in hospital. Process measures were admission to critical care immediately after surgery or to treat a complication and duration of hospital stay. A single definition of critical care was used for all countries. RESULTS: A total of 474 hospitals in 19 high-, 7 middle- and 1 low-income country were included in the primary analysis. Data included 44 814 patients with a median hospital stay of 4 (range 2-7) days. A total of 7508 patients (16.8%) developed one or more postoperative complication and 207 died (0.5%). The overall mortality among patients who developed complications was 2.8%. Mortality following complications ranged from 2.4% for pulmonary embolism to 43.9% for cardiac arrest. A total of 4360 (9.7%) patients were admitted to a critical care unit as routine immediately after surgery, of whom 2198 (50.4%) developed a complication, with 105 (2.4%) deaths. A total of 1233 patients (16.4%) were admitted to a critical care unit to treat complications, with 119 (9.7%) deaths. Despite lower baseline risk, outcomes were similar in low- and middle-income compared with high-income countries. CONCLUSIONS: Poor patient outcomes are common after inpatient surgery. Global initiatives to increase access to surgical treatments should also address the need for safe perioperative care. STUDY REGISTRATION: ISRCTN5181700
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genes
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