La consultation génétique en dermatologie: une approche pratique [Genetic dermatology clinics: a practical approach]

There are numerous genodermatoses and different types of transmission. Recent technological progress of molecular genetics allows to confirm or specify increasingly the clinical diagnosis and to better define the risk of recurrency. A close collaboration of dermatologists and geneticists has been established at CHUV since several years. By means of clinical examples we illustrate the organisation and procedures of this pluridisciplinary consultation which aims to optimize the clinical management of rare genetic diseases.

Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration.

Sudden cardiac death (SCD) is a major cause of premature death in young adults and children in developed countries. Standard forensic autopsy procedures are often unsuccessful in determining the cause of SCD. Post-mortem genetic testing, also called molecular autopsy, has revealed that a non-negligible number of these deaths are a result of inherited cardiac diseases, including arrhythmic disorders such as congenital long QT syndrome and Brugada syndrome. Due to the heritability of these diseases, the potential implications for living relatives must be taken into consideration. Advanced diagnostic analyses, genetic counselling, and interdisciplinary collaboration should be integral parts of clinical and forensic practice. In this article we present a multidisciplinary collaboration established in Lausanne, with the goal of properly informing families of these pathologies and their implications for surviving family members. In Switzerland, as in many other countries, legal guidelines for genetic testing do not address the use of molecular tools for post-mortem genetic analyses in forensic practice. In this article we present the standard practice guidelines established by our multidisciplinary team.

A Classification of Tools for Learning Logic

A table showing a comparison and classification of tools (intelligent tutoring systems) for e-learning of Logic at a college level.

Validation des SCORES cliniques: notions théoriques et pratiques de base. [Validation of clinical scores: theoretical and practical basic notions].

Chaque jour, le médecin utilise dans sa pratique des scores cliniques. Ces scores sont souvent des aides à la décision médicale. Les étapes de validation des scores cliniques sont par contre souvent méconnues du médecin. Cette revue rappelle les bases théoriques de la validation d'un score clinique et propose des exercices pratiques. [Abstract] Physicians are using clinical scores on a regular basis. These scores are generally helpful in making medical decisions. However, the process of validation of clinical scores is often unknown to the physicians. This paper reviews the theory of validation of clinical scores and proposes practical exercises.

Practical Data Collection: Establishing Methods and Procedures for Measuring Water Clarity and Turbidity of Storm Water Run-Off from Active Major Highway Construction Sites, 2014

In anticipation of regulation involving numeric turbidity limit at highway construction sites, research was done into the most appropriate, affordable methods for surface water monitoring. Measuring sediment concentration in streams may be conducted a number of ways. As part of a project funded by the Iowa Department of Transportation, several testing methods were explored to determine the most affordable, appropriate methods for data collection both in the field and in the lab. The primary purpose of the research was to determine the exchangeability of the acrylic transparency tube for water clarity analysis as compared to the turbidimeter.

Power supply noise and logic error probability

Voltage fluctuations caused by parasitic impedances in the power supply rails of modern ICs are a major concern in nowadays ICs. The voltage fluctuations are spread out to the diverse nodes of the internal sections causing two effects: a degradation of performances mainly impacting gate delays anda noisy contamination of the quiescent levels of the logic that drives the node. Both effects are presented together, in thispaper, showing than both are a cause of errors in modern and future digital circuits. The paper groups both error mechanismsand shows how the global error rate is related with the voltage deviation and the period of the clock of the digital system.

Practical algorithms for a family of waterfilling solutions

Many engineering problems that can be formulatedas constrained optimization problems result in solutionsgiven by a waterfilling structure; the classical example is thecapacity-achieving solution for a frequency-selective channel.For simple waterfilling solutions with a single waterlevel and asingle constraint (typically, a power constraint), some algorithmshave been proposed in the literature to compute the solutionsnumerically. However, some other optimization problems result insignificantly more complicated waterfilling solutions that includemultiple waterlevels and multiple constraints. For such cases, itmay still be possible to obtain practical algorithms to evaluate thesolutions numerically but only after a painstaking inspection ofthe specific waterfilling structure. In addition, a unified view ofthe different types of waterfilling solutions and the correspondingpractical algorithms is missing.The purpose of this paper is twofold. On the one hand, itoverviews the waterfilling results existing in the literature from aunified viewpoint. On the other hand, it bridges the gap betweena wide family of waterfilling solutions and their efficient implementationin practice; to be more precise, it provides a practicalalgorithm to evaluate numerically a general waterfilling solution,which includes the currently existing waterfilling solutions andothers that may possibly appear in future problems.

Revenue Logic inSoftware Business Context

Tutkimuksen tavoitteena oli selvittää ohjelmistotoimialan avaintekijöitä, jotka vaikuttavat yrityksen ansaintalogiikkaan sekä lisätä tietoisuutta ansaintalogiikan muodostumisesta pienissä ja keskisuurissa ohjelmistoyrityksissä. Tutkimuksen teoreettisessa osassa keskityttiin tarkastelemaan ansaintalogiikan, strategian ja liiketoimintamallin käsitteiden suhteita sekä arvioitiin toimialan osatekijöiden, hinnoitteluperiaatteiden ja ansaintamallien vaikutusta ansainnan muodostumiseen ohjelmistotoimialalla. Ohjelmistotuote ja - palveluliiketoimintaa koskien oli merkityksellistä tutkia tuotteistamisasteen ja arvoketjujen vaikutusta ansaintalogiikan muodostumisessa sekä esitellä erilaisia, tyypillisiä ohjelmistotoimialalla käytettäviä hinnoittelumenetelmiä. Työn empiirisessä osassa tarkasteltiin 23 suomalaisen ohjelmistoalan yrityksen ansaintalogiikkaa. Tiedot kerättiin haastatteluin ja analysoitiin laadullisen tutkimuksen keinoin. Tutkimustulokset korostivat ansaintalogiikan 'epämääräisyyttä' terminä mutta osoittivat, että ydinliiketoimintaan keskittyminen, tuote-, palvelu-, tai projektiliiketoiminnan osaaminen, tuotteistusaste ja kanavavalinnat ovat avaintekijöitä ansaintalogiikanmuodostumisessa. Ansaintalogiikan muodostamiseen liittyy paljon yrityksen sisäisiä ja ulkoisia haasteita sekä muutospaineita, eikä ohjelmistotoimialalla ole todennettavissa yhtä yleismaailmallista, menestyksen takaavaa ansaintalogiikkaa.

Practical applications of a systematic approach to the chemical abatement of pollutants in water and air

The present dissertation is devoted to the systematic approach to the development of organic toxic and refractory pollutants abatement by chemical decomposition methods in aqueous and gaseous phases. The systematic approach outlines the basic scenario of chemical decomposition process applications with a step-by-step approximation to the most effective result with a predictable outcome for the full-scale application, confirmed by successful experience. The strategy includes the following steps: chemistry studies, reaction kinetic studies in interaction with the mass transfer processes under conditions of different control parameters, contact equipment design and studies, mathematical description of the process for its modelling and simulation, processes integration into treatment technology and its optimisation, and the treatment plant design. The main idea of the systematic approach for oxidation process introduction consists of a search for the most effective combination between the chemical reaction and the treatment device, in which the reaction is supposed to take place. Under this strategy,a knowledge of the reaction pathways, its products, stoichiometry and kinetics is fundamental and, unfortunately, often unavailable from the preliminary knowledge. Therefore, research made in chemistry on novel treatment methods, comprisesnowadays a substantial part of the efforts. Chemical decomposition methods in the aqueous phase include oxidation by ozonation, ozone-associated methods (O3/H2O2, O3/UV, O3/TiO2), Fenton reagent (H2O2/Fe2+/3+) and photocatalytic oxidation (PCO). In the gaseous phase, PCO and catalytic hydrolysis over zero valent ironsare developed. The experimental studies within the described methodology involve aqueous phase oxidation of natural organic matter (NOM) of potable water, phenolic and aromatic amino compounds, ethylene glycol and its derivatives as de-icing agents, and oxygenated motor fuel additives ¿ methyl tert-butyl ether (MTBE) ¿ in leachates and polluted groundwater. Gas-phase chemical decomposition includes PCO of volatile organic compounds and dechlorination of chlorinated methane derivatives. The results of the research summarised here are presented in fifteenattachments (publications and papers submitted for publication and under preparation).

A mathematical study of fuzzy logic; an algebraic approach

Fuzzy set theory and Fuzzy logic is studied from a mathematical point of view. The main goal is to investigatecommon mathematical structures in various fuzzy logical inference systems and to establish a general mathematical basis for fuzzy logic when considered as multi-valued logic. The study is composed of six distinct publications. The first paper deals with Mattila'sLPC+Ch Calculus. THis fuzzy inference system is an attempt to introduce linguistic objects to mathematical logic without defining these objects mathematically.LPC+Ch Calculus is analyzed from algebraic point of view and it is demonstratedthat suitable factorization of the set of well formed formulae (in fact, Lindenbaum algebra) leads to a structure called ET-algebra and introduced in the beginning of the paper. On its basis, all the theorems presented by Mattila and many others can be proved in a simple way which is demonstrated in the Lemmas 1 and 2and Propositions 1-3. The conclusion critically discusses some other issues of LPC+Ch Calculus, specially that no formal semantics for it is given.In the second paper the characterization of solvability of the relational equation RoX=T, where R, X, T are fuzzy relations, X the unknown one, and o the minimum-induced composition by Sanchez, is extended to compositions induced by more general products in the general value lattice. Moreover, the procedure also applies to systemsof equations. In the third publication common features in various fuzzy logicalsystems are investigated. It turns out that adjoint couples and residuated lattices are very often present, though not always explicitly expressed. Some minor new results are also proved.The fourth study concerns Novak's paper, in which Novak introduced first-order fuzzy logic and proved, among other things, the semantico-syntactical completeness of this logic. He also demonstrated that the algebra of his logic is a generalized residuated lattice. In proving that the examination of Novak's logic can be reduced to the examination of locally finite MV-algebras.In the fifth paper a multi-valued sentential logic with values of truth in an injective MV-algebra is introduced and the axiomatizability of this logic is proved. The paper developes some ideas of Goguen and generalizes the results of Pavelka on the unit interval. Our proof for the completeness is purely algebraic. A corollary of the Completeness Theorem is that fuzzy logic on the unit interval is semantically complete if, and only if the algebra of the valuesof truth is a complete MV-algebra. The Compactness Theorem holds in our well-defined fuzzy sentential logic, while the Deduction Theorem and the Finiteness Theorem do not. Because of its generality and good-behaviour, MV-valued logic can be regarded as a mathematical basis of fuzzy reasoning. The last paper is a continuation of the fifth study. The semantics and syntax of fuzzy predicate logic with values of truth in ana injective MV-algerba are introduced, and a list of universally valid sentences is established. The system is proved to be semanticallycomplete. This proof is based on an idea utilizing some elementary properties of injective MV-algebras and MV-homomorphisms, and is purely algebraic.

Adding similarity-based reasoning capabilities to a Horn fragment of possibilistic logic with fuzzy constants

PLFC is a first-order possibilistic logic dealing with fuzzy constants and fuzzily restricted quantifiers. The refutation proof method in PLFC is mainly based on a generalized resolution rule which allows an implicit graded unification among fuzzy constants. However, unification for precise object constants is classical. In order to use PLFC for similarity-based reasoning, in this paper we extend a Horn-rule sublogic of PLFC with similarity-based unification of object constants. The Horn-rule sublogic of PLFC we consider deals only with disjunctive fuzzy constants and it is equipped with a simple and efficient version of PLFC proof method. At the semantic level, it is extended by equipping each sort with a fuzzy similarity relation, and at the syntactic level, by fuzzily “enlarging” each non-fuzzy object constant in the antecedent of a Horn-rule by means of a fuzzy similarity relation.