Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene

A broad mutational spectrum in the dystrophin (DMD) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD). Comprehensive genotyping is particularly relevant considering the mutation-centered therapies for dystrophinopathies. We report the genetic characterization of a patient with disease onset at age 13 years, elevated creatine kinase levels and reduced dystrophin labeling, where multiplex-ligation probe amplification (MLPA) and genomic sequencing failed to detect pathogenic variants. Bioinformatic, transcriptomic (real time PCR, RT-PCR), and genomic approaches (Southern blot, long-range PCR, and single molecule real-time sequencing) were used to characterize the mutation. An aberrant transcript was identified, containing a 103-nucleotide insertion between exons 51 and 52, with no similarity with the DMD gene. This corresponded to the partial exonization of a long interspersed nuclear element (LINE-1), disrupting the open reading frame. Further characterization identified a complete LINE-1 (~6 kb with typical hallmarks) deeply inserted in intron 51. Haplotyping and segregation analysis demonstrated that the mutation had a de novo origin. Besides underscoring the importance of mRNA studies in genetically unsolved cases, this is the first report of a disease-causing fully intronic LINE-1 element in DMD, adding to the diversity of mutational events that give rise to D/BMD.The authors are grateful to the patient and his family for accepting to collaborate in this work. The authors also wish to thank Dr. Stefan White and Yavuz Ariyurek from the Leiden University Medical Center (Netherlands) for facilitating the Single Molecule Real Time (PacBio) sequencing work. A research grant was attributed to J.O. by “Fundo para a Investigação e Desenvolvimento do Centro Hospitalar do Porto” (Grant ref.: 336-13(196-DEFI/285-CES)). The work was also supported by the authors’ Institutions and in part by UMIB, which is funded by “Fundação para a Ciência e Tecnologia (FCT)” under the Pest-OE/SAU/UI0215/2014.info:eu-repo/semantics/publishedVersio

Arabic version of the Personality Inventory for the DSM-5 (PID-5) in a community sample of United Arab Emirates nationals

Background: Section III of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) proposes a model for conceptualizing personality disorders in which they are characterized by impairments in personality functioning and maladaptive personality traits. The Personality Inventory for DSM-5 (PID-5) is a self-report measure that assesses the presence and severity of these maladaptive personality traits. Objective: The current study examined the reliability and validity of the Arabic version of the Personality Inventory for DSM-5 (PID-5) to measure maladaptive personality traits in the Emirati population of the United Arab Emirates. Methods: The Arabic version of the PID-5 was administered to a community sample of 1,090 United Arab Emirates nationals (89.5% female and 10.5% male, mean age = 22.44 years old). The descriptive measures, internal consistency, test-retest reliability, convergent validity with NEO – Five Factor Inventory, as well as PID-5’s factor structure, were all addressed. Results: The PID-5facets and domains mean scores were higher in the Emirati sample compared to the original US sample. Internal consistency of the PID-5 scales was acceptable to high and test-retest coefficients ranged from 0.84 (facets) to 0.87 (domains). As expected, the five domains of the Arabic version of the PID-5 correlated significantly with all Five-Factor Model domains of personality. Additionally, the Arabic version of the PID-5 confirmed a five-factor structure that resembles the PID-5 domains. Conclusion: The findings of this study provided initial support for the use of the Arabic version of the PID-5 to assess maladaptive personality traits in the Emirati population of the United Arab Emirates.info:eu-repo/semantics/publishedVersio

The Potential of Unsaturated Polyesters in Biomedicine and Tissue Engineering: Synthesis, Structure-Properties Relationships and Additive Manufacturing

The success of Tissue Engineering (TE) based approaches is strongly dependent on the development of novel biomaterials for the design of 3D matrices with tailored biomechanical properties to promote the regeneration of human tissues and organs.This review covers the critical aspects related with the preparation of new unsaturated polyester (UP) resin formulations with suitable biological, chemical, thermal and morphological properties for the additive manufacturing (AM) of TE constructs. In this context, the basic principles of available AM technologies, with a special focus on novel stereolithography processes such as microstereolithography (micro-SLA), stereo-thermal-lithography (STLA), two-photon polymerization (TPP) and nanostereolithography (nano-SLA), are also presented and discussed. Ultimately, the present review will provide a better insight into the limitations and potential of combining UP and AM towards the rationale design/fabrication of complex artificial tissue substitute

Development and characterization of b-carotene microcapsules composed of starch and protein extract from Amaranth

The 19th Gums & Stabilisers for the Food Industry Conference: Hydrocolloid multifunctionalityStudies that have explored the use of biopolymers of Amaranth as encapsulating materials for bioactive compounds1,2,3 demonstrate that it is possible to isolate and encapsulate bioactive compounds with Amaranth biopolymers. Therefore, the added value of Amaranth can be increased, evidenced and studied through the extraction of its compounds and the formation of microcapsules. The objective of this study was the evaluation of the ability of Amaranth biopolymers to microencapsulate a bioactive compound - -carotene. The microencapsulation was performed by spray drying4, and -carotene was added to the Amaranth (Amaranthus cruentus) starch or protein through a solution prepared at the ratio of 1:10 (polymer:-carotene) in corn oil (1 %). The microcapsules were characterized by mean diameter (volume%), particle size distribution, microcapsules morphology by epifluorescence microscopy, microstructure by scanning electron microscopy (SEM), Fourier Transform infrared spectroscopy (FT-IR) and by measuring encapsulation efficiency. Microcapsules exhibited an average size of 2.22 ± 1.84 m and 1.55 ± 1.12 m for microcapsules composed of Amaranth protein and Amaranth starch, respectively. The microscopy images of both microcapsules showed good sphericity and presence of fluorescence, which indicates good encapsulation capacity of -carotene. FT-IR results showed no differences between spectra of all samples, which indicates that there was no chemical bonding between the capsules and -carotene, but rather an entrapment of -carotene into starch and protein microparticles. The encapsulation efficiency was 71.29 % and 69.32 % for Amaranth starch and protein microcapsules, respectively. Therefore, it can be concluded that the biopolymers extracted from Amaranth can be considered good encapsulating agents for bioactive compounds, thus valorising their use in food formulations.This study was funded by the CNPQ-Brazil; FCT – Portugal (SFRH/BPD/89992/2012, SFRH/BPD/101181/2014, SFRH/BPD/104712/2014 and IF/00300/2015 fellowships); Project RECI/BBB-EBI/0179/2012 (FCOMP-01-0124-FEDER- 027462); Project UID/BIO/04469/2013 unit, COMPETE 2020 (POCI-01-0145-FEDER- 006684) and Project CICECO-Aveiro Institute of Materials POCI-01-0145-FEDER-007679 (FCT UID/CTM/50011/2013).info:eu-repo/semantics/publishedVersio

The arabic version of the Personality Inventory for the DSM-5 (PID-5) in a clinical sample of United Arab Emirates (UAE) nationals

Objectives: We aimed to test the potential of the Arabic version of the PID-5 to distinguish between clinical and non-clinical participants, as well as to examine its convergent validity and factor structure in an Emirati clinical sample. Methods: The Arabic version of the PID-5 was administered to a clinical sample comprised of 156 participants (Mage = 31.38, SD = 8.99, 37.8% male, 62.2% female) and a community sample also comprised of 156 participants (Mage = 31.43, SD = 9.52, 37.2% male, 62.8% female). We addressed the descriptive measures, internal consistency, mean rank scores differences, convergent validity with SCL-90-R, and PID-5's factor structure. Results: As expected, the clinical sample presented statistically significantly higher scores than the non-clinical sample, with medium to high effect sizes. In addition, all the PID-5 domains showed positive correlations with most of the symptomatic constellations of the SCL-90-R as well as the PID-5 facets with all their SCL-90-R counterparts. However, our findings did not entirely replicate the PID-5 original 5-factor structure, as only a 4-factor solution was retained. Conclusions: Future studies with the Arabic PID-5 in clinical samples are needed to understand its relevance and clinical utility in Arabic countries.info:eu-repo/semantics/publishedVersio

Características agronômicas de cultivares de banana influenciadas por diferentes lâminas de irrigação, no Recôncavo baiano.

O Brasil em 2012 produziu aproximadamente 6,9 milhões de toneladas de bananas, sendo o quinto maior produtor mundial, após Índia, Filipinas, China e Equador (FAO, 2012). Segundo o IBGE (2012), a região Nordeste é a principal produtora, responsável por 37,9% da produção, e o estado da Bahia o segundo maior produtor

Colonización oral por Candida en pacientes que asisten a una clinica dental in Braga, Portugal

The ability of the Candida species to colonize surfaces can be considered as a risk factor for oral infection. Aims The aim of this work was to establish oral Candida carriage in patients attending a dental clinic in Braga, Portugal. Methods A total of 97 patients were analysed. Swab samples were collected, and directly cultured onto CHROMagar Candida. Representative yeasts were identified by polymerase chain reaction. Results From the samples analysed 54.6% (n=53) were Candida positive, and Candida albicans was the most frequently isolated species, accounting for 79% of all the species identified. Non-C. albicans Candida (NCAC) species recovered included Candida parapsilosis, Candida glabrata, Candida tropicalis, and Candida guilliermondii. There was a lack of association between the presence of C. albicans and NCAC species, and age, gender, or prostheses wearing in this population. In 17% of the cases (n=9), polymicrobial cultures, with two different Candida species, were identified. Conclusions This study shows a high Candida carriage rate among this population, thus pointing to the relevance of an accurate diagnostic approach in Candida species identification.Antecedentes: La capacidad que poseen las diferentes especies de Candida de colonizar las superficies, puede ser considerada como un factor de riesgo para la infección oral. Objetivos: El objetivo de este estudio fue establecer la colonización oral por Candida en pacientes que asisten a una clinica dental en Braga, Portugal. Métodos: Un total de 97 pacientes fueron estudiados. Se colectaron muestras bucales con hisopo y fueron cultivadas directamente en CHROMagar Candida. Las levaduras seleccionadas se identificaron mediante reacción en cadena de la polimerasa. Resultados: De las muestras analizadas 54.6% (n=53) fueron positivas para Candida. Candida albicans fue la especie más frecuentemente aislada, representado el 79% de todas las especies identificadas. Las especies de Candida no-Candida albicans (CNCA) aisladas fueron C. parapsilosis, C. glabrata, C. tropicalis y C. guilliermondii. En la población estudiada no se observó asociación entre la presencia de C. albicans y CNCA con la edad, el sexo o el uso de prótesis. En el 17% de los casos (n=9) se identificó colonización mixta con dos especies de Candida. Conclusiones: Este estudio muestra una alta incidencia de colonización por Candida en esta población; por lo tanto, se sugiere la necesidad de un diagnóstico preciso para la identificación de las especies de Candida.Margarida Martins was financially supported by a fellowship from Fundacao para a Ciencia e Tecnologia (FCT), Portugal (Contract SFRH/BD/28222/2006). This research was supported by FCT through the Project PPCDT/BIO/61112/2004

Production of non-toxic cellulose nanocrystals from grape pomace residue using a chemical-ultrasonic process.

SLACA, 12. De 4 a 7 de Novembro de 2017. Ref. 66611