Prevalença de les disfuncions visuals i d’escolta en nens diagnosticats de dislèxia

INTRODUCCIÓ La dislèxia, segons diferents fonts, és un trastorn significatiu i persistent en l’adquisició de la lectoescriptura, independent de la situació sociocultural, emocional o intel·lectual de l’individu. La visió i l’oïda són les principals entrades sensorials d’informació al nostre cervell, això fa que siguin imprescindibles en l’adquisició de la lectoescriptura. Tenir una bona vista o una bona oïda no garanteix un correcte funcionament de les habilitats visuals o d’escolta, indispensables en el procés de l’aprenentatge. Per adquirir una bona lectoescriptura és necessari, a més a més d’una bona vista, unes bones habilitats de motilitat ocular, acomodatives, binoculars, processament de la informació i integració sensorial. De la mateixa manera cal tenir un bon llindar auditiu i haver adquirit bones habilitats vestibulars, discriminació auditiva, localització de la font sonora i una bona relació inter- hemisfèrica. OBJECTIU Aquest treball té com a objectiu principal avaluar la prevalença de les disfuncions visuals i d’escolta en nens i nenes diagnosticats de dislèxia, comparant-los amb un grup control no diagnosticat. METODOLOGIA Per a aquest estudi, hem seleccionat una mostra de 13 infants diagnosticats de dislèxia i 13 per al grup control, tots ells d’entre 8 i 16 anys. Les avaluacions visuals i d’escolta en el grup dislèctic s’han dut a terme en el Centre Universitari de la Visió (CUV) de Terrassa i al Centre Aïs de Sitges durant els mesos d’octubre de 2018 a gener de 2019. En el Centre Optomètric de Sabadell (COS), Centre Brock de Salut Visual i Edo Òptics s’han recopilat les dades del grup control. RESULTATS Els resultats obtinguts en aquest estudi mostren que els nens/es diagnosticats de dislèxia tendeixen a presentar a nivell visual una agudesa visual reduïda en visió de lluny sense correcció, major dificultat en motilitat ocular, descompensació en la fòria en visió propera, dificultat en el processament de la informació, problemes d’integració viso-motora, d’integració viso-espacial i d’integració viso-auditiva respecte el grup control, cosa que pot esdevenir una de les possibles causes dels seus problemes d’aprenentatge. A nivell auditiu, més dificultats que el grup control en desequilibri vestibular, localització de la font sonora i contradicció en la lateralitat auditiva. LIMITACIONS I PERSPECTIVES Els resultats obtinguts en aquest estudi poden estar condicionats pel nombre de subjectes, les característiques del grup control i com s’ha realitzat el diagnòstic de dislèxia en els participants de l’estudi. Com a proposta futura seria interessant realitzar una segona part de l’estudi en què es valorés els participants després de la realització d’un entrenament visual i/o auditiu

Corte de orejas y cola en la especie canina

Treball presentat a l'assignatura de Deontologia i Veterinària Legal (21223

Effect of the time of oocyte collection, by slicing procedure, on the meiosis resumption and further in vitro embryo production of oocytes of prepubertal goats

PòsterJun

Risk Assessment Related to Atmospheric Polycyclic Aromatic Hydrocarbons in Gas and Particle Phases near Industrial Sites

Background: Inhalation is one of the main means of human exposure to polycyclic aromatic hydrocarbons (PAHs) because of their ubiquitous presence in the atmosphere. However, most studies have considered only PAHs found in the particle phase and have omitted the contribution of the gas-phase PAHs to the risk

Avaliação de risco por exposição a hidrocarbonetos aromáticos policíclicos na saúde da população residente ao redor do complexo químico de Tarragona

One of the most important chemical industrial sites of Spain and, indeed, of southern Europe is close to the city of Tarragona and its surrounding villages. Therefore, the aim of this study was to calculate the chronic risk by inhalation of 18 atmospheric Polycyclic Aromatic Hydrocarbons (PAHs) for the population living in municipalities close to this chemical site. The sampling campaign was conducted between June 2008 and June 2009, and around 50 air samples were collected during different meteorological periods, in each of the three sampling sites selected for this study. Samples were taken for 24 h with the simultaneous collection of the particle phase (total suspended particles) on quartz microfiber filters, and the gas phase on polyu- rethane foam cartridges. The PAHs were extracted by pressurized liquid extraction and determined by gas chromatography-mass spectrometry.For calculating inhalation risk assessment, the 18 PAHs were expressed as benzo(a)pyrene equivalents using toxic equivalency factors. Risk was then calculated taking into account the World Health Organization (WHO) unit risk of 8.7 lung cancer cases per 100,000 people, with an exposure of 1 ng m-3 of benzo(a)pyrene over a lifetime of 70 years. The average lifetime lung cancer risk of the global study was 1.2·10-4. This risk is higher than the values recommended by the WHO and the US Environmental Protection Agency (USEPA), but it is lower than the threshold of 10-3, which is considered to be a definite risk.La ciudad de Tarragona y sus alrededores conviven con la actividad industrial de uno de los complejos más importantes de España y del sur de Europa. El objetivo de este estudio ha sido evaluar el riesgo crónico por inhalación de 18 hidrocarburos aromáticos policíclicos (HAP) en la población residente en los municipios ubicados alrededor de este complejo.Para el estudio se eligieron tres municipios y en cada uno de ellos se recogieron alrededor de 50 muestras desde junio de 2008 a junio de 2009. En cada muestra se captó, simultáneamente y durante 24 horas, la fase particulada (partículas totales en suspensión, PST) en filtro de fibra de cuarzo y la fase gaseosa en cilindros de espuma de poliuretano. Los HAP se extrajeron con diclorometano mediante extracción presurizada y se cuantificaron utilizando cromatografía de gases-espectrometría de masas.Para estimar el riesgo por inhalación a los HAP, primero se expresaron los 18 HAP como equivalentes de benzo(a)pireno utilizando factores de toxicidad equivalente, y posteriormente se aplicó el factor de riesgo, definido por la Organización Mundial de la Salud (OMS), de desarrollar cáncer de pulmón a lo largo de toda la vida, de 8,7 x 10-5 por ng m-3 de benzo(a)pireno.El valor medio de riesgo obtenido en el estudio ha sido de 1,2·10-4. Este valor supera los criterios recomendados por la OMS o la Agencia de Protección Medioambiental Americana (USEPA); sin embargo, es inferior a 10-3, umbral considerado como riesgo definitivo para la población.A cidade de Tarragona e os seus arredores convivem com a actividade industrial de um dos complexos mais importantes de Espan- ha e do sul da Europa. O objectivo desde estudo tem sido avaliar o risco crónico por inalação de 18 hidrocarbonetos aromáticos policíclicos (HAP) na população residente nos municípios localizados em redor deste complexo. Para este estudo foram escolhidos três municípios e em cada um deles recolheu-se à volta de 50 amostras desde Junho de 2008 a Julho de 2009. Em cada amostra captou-se, simultaneamente e durante 24 horas, a fase particulada (partículas totais em suspen- são, PST) em filtro de fibra de quartzo e a fase gasosa em cilindros de espuma de poliuretano. Os HAP extraíram-se com diclorometano através de extracção pressurizada e quantificação por cromatografia gasosa e espectrometria de massas. Para estimar o risco por inalação de HAP, primeiro expressaram-se os 18 HAP como equivalentes de benzo(a)pireno utilizando factores de toxicidade de equivalência, e posteriormente aplicou-se o factor de risco, definido pela Organização Mundial de Saúde (OMS), no desenvolvimento de cancro do pulmão para uma esperança de vida de 70 anos, de 8,7 x 10-5 por ng m-3 de benzo(a) pireno. O valor médio de risco obtido no estudo foi de 1,2·10-4. Este valor supera os critérios recomendados pela OMS e pela Agência de Protecção do Meio-ambiental Americana (USEPA); contudo, é inferior a 10-3, limite a partir do qual o risco é assumido para a população

Innovative computerized dystrophin quantification method based on spectral confocal microscopy

© 2023 by the authorsSeveral clinical trials are working on drug development for Duchenne and Becker muscular dystrophy (DMD and BMD) treatment, and, since the expected increase in dystrophin is relatively subtle, high-sensitivity quantification methods are necessary. There is also a need to quantify dystrophin to reach a definitive diagnosis in individuals with mild BMD, and in female carriers. We developed a method for the quantification of dystrophin in DMD and BMD patients using spectral confocal microscopy. It offers the possibility to capture the whole emission spectrum for any antibody, ensuring the selection of the emission peak and allowing the detection of fluorescent emissions of very low intensities. Fluorescence was evaluated first on manually selected regions of interest (ROIs), proving the usefulness of the methodology. Later, ROI selection was automated to make it operator-independent. The proposed methodology correctly classified patients according to their diagnosis, detected even minimal traces of dystrophin, and the results obtained automatically were statistically comparable to the manual ones. Thus, spectral imaging could be implemented to measure dystrophin expression and it could pave the way for detailed analysis of how its expression relates to the clinical course. Studies could be further expanded to better understand the expression of dystrophin-associated protein complexes (DAPCs).This research was partially founded by “Somriures Valents” (private grant).Peer ReviewedPostprint (published version

Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of HMMR rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04-1.15, p = 1.9 x 10(-4) (false discovery rate (FDR)-adjusted p = 0.043). Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03-1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted pinteraction values > 0.05) for deviations from the multiplicative model for rs299290 and CSTF1 rs6064391, and rs299290 and TUBG1 rs11649877 in both BRCA1 and BRCA2 mutation carriers. Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients' survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers

Ассоциативно-семантическая группа как языковая основа концепта

Статья посвящена описанию особой лексико-семантической парадигмы ассоциативно-семантической группы, которая является частью ассоциативно- семантического комплекса и рассматривается как языковая основа концепта. Исследование проведено с применением описательного, структурного и функционального методов.Статтю присвячено опису особливої лексико-семантичної парадигми асоціативно-семантичної групи, яка є частиною асоціативно-семантичного комплексу і являє собою мовну основу концепту. Дослідження проведено із застосуванням описового, структурного та функціонального методів.The particular lexico-semantic paradigm – associative-semantic group (ASG) which is the part of associative-semantic complex (ASC) – is investigated in the article as a linguistic base of concept. Descriptive, structural, and functional methods were used

Exploring the link between MORF4L1 and risk of breast cancer.

INTRODUCTION: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. METHODS: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. RESULTS: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to γ-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, Ptrend = 0.45 and 0.05, P2df = 0.51 and 0.14, respectively; and rs10519219, Ptrend = 0.92 and 0.72, P2df = 0.76 and 0.07, respectively. CONCLUSIONS: While the present study expands on the role of MRG15 in the control of genomic stability, weak associations cannot be ruled out for potential low-penetrance variants at MORF4L1 and BrCa risk among BRCA2 mutation carriers.RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are