High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

PURPOSE: To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients. DESIGN: Retrospective clinical and molecular genetic study. METHODS: Clinical investigations included visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and electroretinogram (ERG) recording. PRPH2 was screened by Sanger sequencing in a cohort of 310 French families with adRP. Peripherin-2 protein was produced in yeast and analyzed by Western blot. RESULTS: We identified 15 mutations, including 6 novel and 9 previously reported changes in 32 families, accounting for a prevalence of 10.3% in this adRP population. We showed that a new recurrent p.Leu254Gln mutation leads to protein aggregation, suggesting abnormal folding. The clinical severity of the disease in examined patients was moderate with 78% of the eyes having 1-0.5 of visual acuity and 52% of the eyes retaining more than 50% of the visual field. Some patients characteristically showed vitelliform deposits or macular involvement. In some families, pericentral RP or macular dystrophy were found in family members while widespread RP was present in other members of the same families. CONCLUSIONS: The mutations in PRPH2 account for 10.3% of adRP in the French population, which is higher than previously reported (0%-8%) This makes PRPH2 the second most frequent adRP gene after RHO in our series. PRPH2 mutations cause highly variable phenotypes and moderate forms of adRP, including mild cases, which could be underdiagnosed.

The effects of fire severity on ectomycorrhizal colonization and morphometric features in Pinus pinaster Ait. seedlings

Aim of the study: Mycorrhizal fungi in Mediterranean forests play a key role in the complex process of recovery after wildfires. A broader understanding of an important pyrophytic species as Pinus pinaster and its fungal symbionts is thus necessary for forest restoration purposes. This study aims to assess the effects of ectomycorrhizal symbiosis on maritime pine seedlings and how fire severity affects fungal colonization ability. Area of study: Central Spain, in a Mediterranean region typically affected by wildfires dominated by Pinus pinaster, a species adapted to fire disturbance. Material and Methods: We studied P. pinaster root apexes from seedlings grown in soils collected one year after fire in undisturbed sites, sites moderately affected by fire and sites highly affected by fire. Natural ectomycorrhization was observed at the whole root system level as well as at two root vertical sections (0-10 cm and 10-20 cm). We also measured several morphometric traits ( tap root length, shoot length, dry biomass of shoots and root/shoot ratio), which were used to test the influence of fire severity and soil chemistry upon them. Main results: Ectomycorrhizal colonization in undisturbed soils for total and separated root vertical sections was higher than in soils that had been affected by fire to some degree. Inversely, seedling vegetative size increased according to fire severity. Research highlights: Fire severity affected soil properties and mycorrhizal colonization one year after occurrence, thus affecting plant development. These findings can contribute to a better knowledge of the factors mediating successful establishment of P. pinaster in Mediterranean forests after wildfires.

Detection of severe obstructive sleep apnea through voice analysis

tThis paper deals with the potential and limitations of using voice and speech processing to detect Obstruc-tive Sleep Apnea (OSA). An extensive body of voice features has been extracted from patients whopresent various degrees of OSA as well as healthy controls. We analyse the utility of a reduced set offeatures for detecting OSA. We apply various feature selection and reduction schemes (statistical rank-ing, Genetic Algorithms, PCA, LDA) and compare various classifiers (Bayesian Classifiers, kNN, SupportVector Machines, neural networks, Adaboost). S-fold crossvalidation performed on 248 subjects showsthat in the extreme cases (that is, 127 controls and 121 patients with severe OSA) voice alone is able todiscriminate quite well between the presence and absence of OSA. However, this is not the case withmild OSA and healthy snoring patients where voice seems to play a secondary role. We found that thebest classification schemes are achieved using a Genetic Algorithm for feature selection/reduction.

Features extraction based on the Discrete Hartley Transform for closed contour

In this paper the authors propose a new closed contour descriptor that could be seen as a Feature Extractor of closed contours based on the Discrete Hartley Transform (DHT), its main characteristic is that uses only half of the coefficients required by Elliptical Fourier Descriptors (EFD) to obtain a contour approximation with similar error measure. The proposed closed contour descriptor provides an excellent capability of information compression useful for a great number of AI applications. Moreover it can provide scale, position and rotation invariance, and last but not least it has the advantage that both the parameterization and the reconstructed shape from the compressed set can be computed very efficiently by the fast Discrete Hartley Transform (DHT) algorithm. This Feature Extractor could be useful when the application claims for reversible features and when the user needs and easy measure of the quality for a given level of compression, scalable from low to very high quality.

Clinical features of oral lichen planus. A retrospective study of 65 cases

Objectives: To describe the clinical features of patients diagnosed with oral lichen planus (OLP) and to establish the prevalence of its malignant transformation in our setting. Study design: A retrospective study was made of 65 patients clinically and histologically diagnosed with OLP in the Service of Oral Surgery (Dental Clinic of the University of Barcelona, Spain) in the period 1990-2005. A descriptive and bivariate statistical analysis was made. Results: The mean patient age was 59 years (SD ± 14.9). Most of the patients (61%) were women, and the most frequent location of the lesions was the buccal mucosa (90.8%). White forms of OLP were noted in 66% of the cases, and 46.2% of the patients reported symptoms of some kind. The patients diagnosed with diabetes mellitus (20%) showed a larger proportion of red lesions (p=0.088). No statistically significant association was observed between chronic liver disease and the OLP lesion types or symptoms. Two cases of squamous cell carcinoma were identified in two patients previously or simultaneously diagnosed with OLP. A statistically significant correlation was observed between dysplastic changes / malignization of the lesions and smoking habit (p=0.019). An association to alcohol abuse was also noted, though in this case statistical significance was not reached (p=0.085). Conclusions: The clinical features of our study population were similar to those described in other studies. Diabetic patients with OLP were seen to be more susceptible to the development of atrophic-erosive lesions. Smokers and/or patients with alcohol abuse in turn showed a greater tendency to develop dysplastic changes / malignization in the histopathological study of the lesions

Sharp mandibular bone irregularities after lower third molar extraction: Incidence, clinical features and risk factors

Objectives: The purpose of this study was to determine the incidence and clinical symptoms associated with sharp mandibular bone irregularities (SMBI) after lower third molar extraction and to identify possible risk factors for this complication. Study Design: A mixed study design was used. A retrospective cohort study of 1432 lower third molar extractions was done to determine the incidence of SMBI and a retrospective case-control study was done to determine potential demographic and etiologic factors by comparing those patients with postoperative SMBI with controls. Results: Twelve SMBI were found (0.84%). Age was the most important risk factor for this complication. The operated side and the presence of an associated radiolucent image were also significantly related to the development of mandibular bone irregularities. The depth of impaction of the tooth might also be an important factor since erupted or nearly erupted third molars were more frequent in the SMBI group. Conclusions: SMBI are a rare postoperative complication after lower third molar removal. Older patients having left side lower third molars removed are more likely to develop this problem. The treatment should be the removal of the irregularity when the patient is symptomatic

Generic features of eighteenth-century American runaway slave advertisements

Pro-gradu –tutkielmani aiheena ovat 1700-luvun ”karanneet orjat” – sanomalehtiilmoitusten genrelle ominaiset piirteet. Tutkimusaineisto koostuu 190 ilmoituksesta, jotka ovat alkuperäisesti ilmestyneet virginialaisissa, pennsylvanialaisissa ja newyorkilaisissa sanomalehdissä 1730-luvulta 1770-luvulle. Tutkimuksen kohteeksi on rajattu ilmoitukset, joissa yksityishenkilöt ilmoittavat orjan/orjien karanneet ja lupaavat kiinniottajalle palkkion. Tutkielman tarkoituksena on tarkastella, millaisia ovat tyypilliset kielelliset piirteet näissä teksteissä ja millainen on prototyyppinen genren edustaja. Genreteorian lisäksi teoriaosuudessa käsittelen jonkin verran 1700- luvun englannin kielen yleisiä piirteitä sekä orjuuden ja sanomalehtien syntyhistoriaa Amerikassa taustoittaakseni tutkimusta. Analyysissa hyödynnän mm. Swalesin ja Bhatian käyttämää käsitettä siirroista (moves). Tutkin ilmoituksien tyypillistä rakennetta jakamalla ne yhdeksään siirtoon, joilla kaikilla on oma tehtävänsä ilmoituksessa. Jotkut siirrot, kuten karkulaisen kuvailu ja palkkion lupaaminen, esiintyvät kaikissa ilmoituksissa, kun taas toiset siirrot ovat läsnä harvemmin. Muita tälle genrelle tyypillisiä ominaisuuksia ovat esim. ilmoituksissa toistuvat kiinteät fraasit ja tietyt sanastolliset erikoisuudet. Lisäksi tutkin ilmoituksissa käytettäviä tapoja viitata asiaan liittyviin henkilöihin, sekä erilaisia toimia, joita ilmoitusten jättäjät ilmoituksien avulla suorittavat. Genressä on havaittavissa pieniä reilun neljänkymmenen vuoden kuluessa tapahtuneita muutoksia, mutta myös eroavaisuuksia eri siirtokuntien ilmoitusten välillä. Yleisesti voidaan todeta, että vaikka ”karanneet orjat” –ilmoitukset voivat vaihdella rakenteeltaan ja sanavalinnoiltaan, suuri osa ilmoituksista seuraa kuitenkin melko prototyyppistä muottia.

Brain dynamics sustaining rapid rule extraction from speech

Language acquisition is a complex process that requires the synergic involvement of different cognitive functions, which include extracting and storing the words of the language and their embedded rules for progressive acquisition of grammatical information. As has been shown in other fields that study learning processes, synchronization mechanisms between neuronal assemblies might have a key role during language learning. In particular, studying these dynamics may help uncover whether different oscillatory patterns sustain more item-based learning of words and rule-based learning from speech input. Therefore, we tracked the modulation of oscillatory neural activity during the initial exposure to an artificial language, which contained embedded rules. We analyzed both spectral power variations, as a measure of local neuronal ensemble synchronization, as well as phase coherence patterns, as an index of the long-range coordination of these local groups of neurons. Synchronized activity in the gamma band (2040 Hz), previously reported to be related to the engagement of selective attention, showed a clear dissociation of local power and phase coherence between distant regions. In this frequency range, local synchrony characterized the subjects who were focused on word identification and was accompanied by increased coherence in the theta band (48 Hz). Only those subjects who were able to learn the embedded rules showed increased gamma band phase coherence between frontal, temporal, and parietal regions.

Consumer valuation of energy-saving features of residential air conditioners with hedonic and choice models

The promotion of energy-efficient appliances is necessary to reduce the energetic and environmental burden of the household sector. However, many studies have reported that a typical consumer underestimates the benefits of energy-saving investment on the purchase of household electric appliances. To analyze this energy-efficiency gap problem, many scholars have estimated implicit discount rates that consumers use for energy-consuming durables. Although both hedonic and choice models have been used in previous studies, a comparison between two models has not yet been done. This study uses point of sale data about Japanese residential air conditioners and estimates implicit discounts rates with both hedonic and choice models. Both models demonstrate that a typical consumer underinvests in energy efficiency. Although choice models estimate a lower implicit discount rate than hedonic models, the latter models estimate the values of other product characteristics more consistently than choice models.

Melodic Analysis of Speech Method applied to Spanish and Catalan

In this paper, we present the Melodic Analysis of Speech method (MAS) that enables us to carry out complete and objective descriptions of a language's intonation, from a phonetic (melodic) point of view as well as from a phonological point of view. It is based on the acoustic-perceptive method by Cantero (2002), which has already been used in research on prosody in different languages. In this case, we present the results of its application in Spanish and Catalan.

Designing features for supporting social interactions in online communities

This Master's thesis studies the development of interaction and socialization in online communities. A large number of online communities fade away even before they really get started. In many occasions the reason is that the community does not give anything new, or even if they do, the delivery does not satisfy the users. In this thesis guidelines were developed to help to see important things, which might be forgotten when developing an online community. The thesis goes through the characteristic of an online community and human behaviour related to them and also compares behaviour in the Internet and real life. In addition, usability is an important part of the online communities and thus it is also covered in this thesis. As a result of this thesis an 8-step guideline was developed to ease the design of an online community. Guidelines were also applied to two real life cases which are described as one part of this work.

Distinct features of Pepper yellow mosaic virus isolates from tomato and sweetpepper

Determination of virus diversity in the field is vital to support a sustainable breeding program for virus resistance of horticultural crops. The present study aimed to characterize four field potyvirus isolates found naturally infecting sweet pepper (Capsicum annuum) (Sa66 and Sa115) and tomato (Lycopersicon esculentum) (IAC3 and Sa21) plants. Their biological characteristics revealed differences among the isolates in their ability to infect distinct Capsicum spp. and tomato genotypes, and in the severity of symptoms caused by these isolates compared to the infection caused by an isolate of Pepper yellow mosaic virus (PepYMV). Absence of cross-reaction was found among the studied isolates with antiserum against Potato virus Y (PVY). However, all isolates reacted, at different intensities, with antiserum against PepYMV. All isolates showed high identity percentage (97 to 99%) of the amino acid sequence of the coat protein with PepYMV (accession AF348610) and low (69 to 80%) with other potyvirus species. The comparison of the 3' untranslated region also confirmed this finding with 97 to 98% identity with PepYMV, and of 47 to 71% with other potyviruses. The results showed that PepYMV isolates were easily differentiated from PVY by serology and that the host response of each isolate could be variable. In addition, the nucleotide sequence of the coat protein and 3' untranslated region was highly conserved among the isolates.

Quantitative analysis of two important epidemiological features of the common bean: Phaeoisariopsis griseola pathosystem

This work quantifies two important epidemiological features of the bean (Phaseolus vulgaris)/Phaeoisariopsis griseola pathosystem. The first is the effect of the number of nights of leaf wetness on infection efficiency. Infection efficiency was below 10% when inoculated leaflets were exposed to less than two nights of leaf wetness. Optimum infection efficiencies were obtained after three to four nights of leaf wetness, at about 50%. Further nights of leaf wetness did not increase the infection efficiency. The second feature quantified is the relative rate of leaflet defoliation for varying levels of angular leaf spot severity. It increased with disease severity according to a logarithm-like curve, and a relative rate of 0.23 day-1 was estimated for a severity of 18%. The implications of these results on the disease epidemiology are discussed.

Determination of copper at wide range concentrations using instrumental features of high-resolution continuum source flame atomic absorption spectrometry

This work describes a method to determine Cu at wide range concentrations in a single run without need of further dilutions employing high-resolution continuum source flame atomic absorption spectrometry. Different atomic lines for Cu at 324.754 nm, 327.396 nm, 222.570 nm, 249.215 nm and 224.426 nm were evaluated and main figures of merit established. Absorbance measurements at 324.754 nm, 249.215 nm and 224.426 nm allows the determination of Cu in the 0.07 - 5.0 mg L-1, 5.0 - 100 mg L-1 and 100 - 800 mg L-1 concentration intervals respectively with linear correlation coefficients better than 0.998. Limits of detection were 21 µg L-1, 310 µg L-1 and 1400 µg L-1 for 324.754 nm, 249.215 nm and 224.426 nm, respectively and relative standard deviations (n = 12) were £ 2.7%. The proposed method was applied to water samples spiked with Cu and the results were in agreement at a 95% of confidence level (paired t-test) with those obtained by line-source flame atomic absorption spectrometry.