Wavelength-to-time shape generation in the RF domain based on dispersion of incoherent optical carriers

2017/201

Generic regularity of free boundaries for the thin obstacle problem

The free boundary for the Signorini problem in $\mathbb{R}^{n+1}$ is smooth outside of a degenerate set, which can have the same dimension ($n-1$) as the free boundary itself. In [FR21] it was shown that generically, the set where the free boundary is not smooth is at most $(n-2)$-dimensional. Our main result establishes that, in fact, the degenerate set has zero $\mathcal{H}^{n-3-\alpha_0}$ measure for a generic solution. As a by-product, we obtain that, for $n+1 \leq 4$, the whole free boundary is generically smooth. This solves the analogue of a conjecture of Schaeffer in $\mathbb{R}^3$ and $\mathbb{R}^4$ for the thin obstacle problem

La funció conjugada i la transformada de Hilbert

La transformada de Hilbert, tant en el cas periòdic, anomenat també funció conjugada, com per funcions definides a la recta, constitueixen un dels operadors més important en l'anàlisi harmònica. La seva acotació en espais Lp del torus per p>1 implica la convergència en norma p de les sumes parcials de la sèrie de Fourier d'una funció f vers aquesta. En paral.lel al que passa per funcions definides al cercle, tenim resultats anàlegs per la transformada de Hilbert a R que és l'operador integral singular per excel.lència en el cas unidimensional

Building uncertainty models on top of black-box predictive APIs

With the commoditization of machine learning, more and more off-the-shelf models are available as part of code libraries or cloud services. Typically, data scientists and other users apply these models as ''black boxes'' within larger projects. In the case of regressing a scalar quantity, such APIs typically offer a predict() function, which outputs the estimated target variable (often referred to as y¿ or, in code, y_hat). However, many real-world problems may require some sort of deviation interval or uncertainty score rather than a single point-wise estimate. In other words, a mechanism is needed with which to answer the question ''How confident is the system about that prediction?'' Motivated by the lack of this characteristic in most predictive APIs designed for regression purposes, we propose a method that adds an uncertainty score to every black-box prediction. Since the underlying model is not accessible, and therefore standard Bayesian approaches are not applicable, we adopt an empirical approach and fit an uncertainty model using a labelled dataset (x, y) and the outputs y¿ of the black box. In order to be able to use any predictive system as a black box and adapt to its complex behaviours, we propose three variants of an uncertainty model based on deep networks. The first adds a heteroscedastic noise component to the black-box output, the second predicts the residuals of the black box, and the third performs quantile regression using deep networks. Experiments using real financial data that contain an in-production black-box system and two public datasets (energy forecasting and biology responses) illustrate and quantify how uncertainty scores can be added to black-box outputs

Gestión sostenible de destinos turísticos: la implementación de un sistema de indicadores de turismo en los destinos de la provincia de Barcelona

El artículo se centra en el diseño e implementación de indicadores de turismo para la gestión sostenible de los destinos, en el marco de un proyecto aplicado en colaboración entre la Universidad de Barcelona y la Diputación de Barcelona. Los objetivos son: a) Explicar las características del Proyecto, y en particular su fundamentación conceptual y metodológica; b) Presentar los resultados del Proyecto, concretamente sobre la aplicación del Índice de Sostenibilidad Turística (ISOST) y el Sistema Europeo de Indicadores de Turismo (SEIT); y c) Aportar un breve balance de los resultados y una reflexión sobre el uso de estos instrumentos

Angiotensin-converting-enzyme gene polymorphisms, smoking and chronic obstructive pulmonary disease

While tobacco smoking is the main risk factor for chronic obstructive pulmonary disease (COPD) only a fraction of smokers go on to develop the disease. We investigated the relationship between the insertion (I) – deletion (D) polymorphisms in the Angiotensin converting enzyme (ACE) gene and the risk of developing COPD in smokers by determining the distribution of the ACE genotypes (DD, ID and II) in 151 life-long male smokers. 74 of the smokers had developed COPD (62 ± 2 years; FEV1 44 ± 6 % reference) whereas the rest retained normal lung function (56 ± 2 yrs; FEV1 95 ± 3 % reference). In addition, we genotyped 159 males recruited randomly from the general population. The prevalence of the DD genotype was highest (p = 0.01) in the smokers that developed COPD and its presence was associated with a 2-fold increase in the risk for COPD (OR 2.2; IC95% 1.1 to 5.5). Surprisingly, the 151 individuals in the smoking population did not demonstrate Hardy-Weinberg equilibrium unlike the 159 recruited from the general population. Our results suggest that ACE polymorphisms are associated with both the smoking history of an individual and their risk of developing COPD

New GOLD classification: longitudinal data on group assignment

Rationale: Little is known about the longitudinal changes associated with using the 2013 update of the multidimensional GOLD strategy for chronic obstructive pulmonary disease (COPD). Objective: To determine the COPD patient distribution of the new GOLD proposal and evaluate how this classification changes over one year compared with the previous GOLD staging based on spirometry only. Methods: We analyzed data from the CHAIN study, a multicenter observational Spanish cohort of COPD patients who are monitored annually. Categories were defined according to the proposed GOLD: FEV1%, mMRC dyspnea, COPD Assessment Test (CAT), Clinical COPD Questionnaire (CCQ), and exacerbations-hospitalizations. One-year follow-up information was available for all variables except CCQ data. Results: At baseline, 828 stable COPD patients were evaluated. On the basis of mMRC dyspnea versus CAT, the patients were distributed as follows: 38.2% vs. 27.2% in group A, 17.6% vs. 28.3% in group B, 15.8% vs. 12.9% in group C, and 28.4% vs. 31.6% in group D. Information was available for 526 patients at one year: 64.2% of patients remained in the same group but groups C and D show different degrees of variability. The annual progression by group was mainly associated with one-year changes in CAT scores (RR, 1.138; 95%CI: 1.074-1.206) and BODE index values (RR, 2.012; 95%CI: 1.487-2.722). Conclusions: In the new GOLD grading classification, the type of tool used to determine the level of symptoms can substantially alter the group assignment. A change in category after one year was associated with longitudinal changes in the CAT and BODE index

Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications

BACKGROUND: The 22q11.2 deletion syndrome is the most frequent genomic disorder with an estimated frequency of 1/4000 live births. The majority of patients (90%) have the same deletion of 3 Mb (Typically Deleted Region, TDR) that results from aberrant recombination at meiosis between region specific low-copy repeats (LCRs). METHODS: As a first step towards the characterization of recombination rates and breakpoints within the 22q11.2 region we have constructed a high resolution recombination breakpoint map based on pedigree analysis and a population-based historical recombination map based on LD analysis. RESULTS: Our pedigree map allows the location of recombination breakpoints with a high resolution (potential recombination hotspots), and this approach has led to the identification of 5 breakpoint segments of 50 kb or less (8.6 kb the smallest), that coincide with historical hotspots. It has been suggested that aberrant recombination leading to deletion (and duplication) is caused by low rates of Allelic Homologous Recombination (AHR) within the affected region. However, recombination rate estimates for 22q11.2 region show that neither average recombination rates in the 22q11.2 region or within LCR22-2 (the LCR implicated in most deletions and duplications), are significantly below chromosome 22 averages. Furthermore, LCR22-2, the repeat most frequently implicated in rearrangements, is also the LCR22 with the highest levels of AHR. In addition, we find recombination events in the 22q11.2 region to cluster within families. Within this context, the same chromosome recombines twice in one family; first by AHR and in the next generation by NAHR resulting in an individual affected with the del22q11.2 syndrome. CONCLUSION: We show in the context of a first high resolution pedigree map of the 22q11.2 region that NAHR within LCR22 leading to duplications and deletions cannot be explained exclusively under a hypothesis of low AHR rates. In addition, we find that AHR recombination events cluster within families. If normal and aberrant recombination are mechanistically related, the fact that LCR22s undergo frequent AHR and that we find familial differences in recombination rates within the 22q11.2 region would have obvious health-related implications

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

<p>Abstract</p> <p>Background</p> <p>Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of infrequent deletions and duplications with different sizes and locations have also been reported, generally with a milder, slightly different phenotype for duplications but with no clear genotype-phenotype correlation to date.</p> <p>Methods</p> <p>We present a 7 month-old male patient with surgically corrected ASD and multiple VSDs, and dysmorphic facial features not clearly suggestive of 22q11.2 deletion syndrome, and a newborn male infant with cleft lip and palate and upslanting palpebral fissures. Karyotype, FISH, MLPA, microsatellite markers segregation studies and SNP genotyping by array-CGH were performed in both patients and parents.</p> <p>Results</p> <p>Karyotype and FISH with probe N25 were normal for both patients. MLPA analysis detected a partial <it>de novo </it>1.1 Mb deletion in one patient and a novel partial familial 0.4 Mb duplication in the other. Both of these alterations were located at a distal position within the commonly deleted region in 22q11.2. These rearrangements were confirmed and accurately characterized by microsatellite marker segregation studies and SNP array genotyping.</p> <p>Conclusion</p> <p>The phenotypic diversity found for deletions and duplications supports a lack of genotype-phenotype correlation in the vicinity of the LCRC-LCRD interval of the 22q11.2 chromosomal region, whereas the high presence of duplications in normal individuals supports their role as polymorphisms. We suggest that any hypothetical correlation between the clinical phenotype and the size and location of these alterations may be masked by other genetic and/or epigenetic modifying factors.</p