Diversidad genética y estructura poblacional de caballa ("Scomber colias", Gmelin, 1789) en aguas del Atlántico y del Mediterráneo

Programa de doctorado: Oceanografía, Bienio 2007/09. La fecha de publicación es la fecha de lectura

Desenvolvimento e Estudo da Validade Facial do Questionário de Motivações para Revelar/Não Revelar a Parentalidade Não-Genética por Doação de Gâmetas

Introdução: A parentalidade é um papel muito valorizado socialmente. No entanto, para casais com infertilidade o desempenho deste papel pode implicar tratamentos de fertilidade, alguns deles com recurso a gâmetas de dador. Para os casais que recorrem a gâmetas de dador, surge uma outra preocupação: contar à criança a origem da sua conceção ou manter segredo. Ainda que as motivações que influenciam este processo de decisão tenham sido alvo de estudo, em Portugal a investigação relativa a este tema é escassa. Objetivos: A presente investigação pretendeu desenvolver e estudar a validade facial do Questionário de Motivações para Revelar/Não Revelar a Parentalidade não Genética por Doação de Gâmetas (QMRDG), o qual se destina a avaliar as principais motivações que influenciam o processo de tomada de decisão dos pais que recorrem a gâmetas de dador relativamente a contar ou não contar ao/à seu/sua filho/a a origem da sua conceção. Pretendeu-se ainda explorar a relação entre os sintomas emocionais negativos e o sentido de competência parental nos diferentes grupos em estudo (pais que já contaram à criança, pais que decidiram não contar e pais que ainda não contaram). Metodologia: Estudo exploratório conduzido numa amostra de 21 participantes que recorrem a tratamento de fertilidade com recurso a gâmetas de dador, tendo tido filhos resultantes desse mesmo tratamento, com idades compreendidas entre os 30 e 49 anos. Os participantes preencheram um conjunto de questionários numa plataforma online, tendo o estudo sido divulgado pela Associação Portuguesa de Fertilidade. Resultados: Os dados obtidos indicam que a maioria dos pais ainda não contou ao/à seu/sua filho/a sua origem genética devido ao facto de a criança ser ainda muito pequena, encontrando-se estes com intenção de revelar à criança. Dos pais que já contaram, as motivações que mais influenciaram a decisão basearam-se na falta de motivos para omitir, na importância dada à honestidade, no direito do conhecimento das origens genéticas e na transparência no seio familiar. Face às motivações para não contar, das que mais influenciaram os pais salienta-se a pouca importância dada à genética. O QMRDG revelou possuir validade facial não tendo sido reportada a existência de itens ambíguos ou de difícil compreensão. Discussão: A tendência dos pais no presente estudo foi de contar ao/à seu/sua filho/a a origem da sua conceção, sendo também esta a tendência reportada em estudos mais recentes. Verificou-se a existência de algumas limitações no estudo, nomeadamente o tamanho da amostra. No entanto, o QMRDG mostrou possuir validade facial, podendo constituir-se como um instrumento útil na prática clínica e na investigação com pessoas que estejam a realizar tratamento de fertilidade com recurso a gâmetas de dador. / Introduction: Parenting is a highly valued social role. However, for couples dealing with infertility this role can involve fertility treatments, and for some of them donorassisted reproduction. For couples who use third party reproduction, another concern can emerge: tell the child about the donor conception, or preserve secrecy. Although arguments for decision making have been studied, in Portugal research on this topic is scanty. Objectives: The current study sought out to develop and study the facial validity of Motivations for Disclosing/Not Disclosing Non-genetic Parenthood through Gamete Donation (QMRDG), which is designed to assess motivations that influence the decision-making process of parents who use gamete donation regarding tell or not to tell to his/her son/daughter his/her conception. The existence of differences concerning emotional negative symptoms and parenting sense of competence in three groups (parents that already disclosed, parents that decided not to disclose and parents that did not decide what to do) was also explored. Methods: This exploratory study was conducted in sample of 21 participants who undergone third-party reproduction treatment and became parents. Participants´ age ranged from 30 to 49 years. Participants completed a set of questionnaires through an online platform. The study was advertised by Associação Portuguesa de Fertilidade. Results: Data showed that most parents did not disclose to their child their donor conception due to the fact that the child is still very young, but their intention seems to be to disclose in the future. For parents who have disclosed, core motivations for that decision are based on the lack of reasons for omitting, on the importance of honesty, on the right to know genetic origins and on transparency in the family. Concerning motivations for not disclosing the little importance given to genetics emerges as one of the most important ones. QMRDG revealed good facial validity. The existence of ambiguous or difficult to understand items has not been reported. Discussion: In our study parent’s tendency was to disclose to his/her son/daughter his/her donor conception and this is also the trend reported in recent studies. There are some methodological limitations that should be considered mainly due to the sample size. However, the QMRDG proved to be an instrument showing facial validity, and it can be a useful tool in clinical practice and research with people who are pursuing fertility treatment with gamete donation.

Divergencia genética como resultado de adaptación a alturas diferentes en ranas neotropicales del grupo rana pipiens

Ranas clasificadas como ranas pipiens representan a un grupo de especies relacionadas. En este trabajo se compararon cuatro poblaciones de este grupo viviendo en Costa Rica en alturas y en medios ambientes diferentes en cuanto a morfología y compatibilidad reproductiva. No existe una diferencia significativa entre la forma del rostro en las poblaciones estudiadas, pero al tamaño promedio de ambos sexos disminuye a un “cline” (grado) con incremento de altura. Cruces artificiales indican una reducción significativa en la compatibilidad reproductiva entre la población más alta y las más bajas. Se propone que el cambio clinal en tamaño y la incompatibilidad reproductiva de la población alta representa una divergencia genética y posiblemente una especie nueva en proceso de formación. Se propone también que una “especiación” parecida pueda estar ocurriendo en otras montañas y volcanes de América Central en varios grupos de organismos.

Apomixia determinando a estrutura genética de uma população de Plinia cauliflora no sudoeste do Paraná

CAPES

Determinación precoz de nefropatía diabética en base a parametros de laboratorio

Es importante diagnosticar tempranamente la afección renal y prevenir las alteraciones a nivel microvascular, para lo cual hemos tomado en consideración la determinación de la nicroalbuminuria, los niveles sanguíneos de fibrinógeno cuya elevación es considerada como factor de riesgo de la nefropatía. Los parámetros de control glucémico generados por la hemoglobina glicosilada y la fructosamina constituyen hasta hoy el mejor método para el control del metabolismo de los carboidratos, forman parte de nuestros objetivos, determinar sus valores. En nuestro estudio el 52 por ciento de la población estudiada presenta microalbuminuria basal positiva. El 70 por ciento de los investigados presenta un control dentro de parámetros normales, sin embargo el 52 por ciento de los pacientes con DM, a pesar de este buen control, presentan nofropatía irreversible. Del total de nefrópatas [52 por ciento], el 29 por ciento de los pacientes son del sexo femenino el 23 por ciento son del sexo masculino. Se observó que los años de evolución de la biabetes, tienen especial importancia en cuanto a la producción de la nefropatía, del 100 por cien de pacientes nefrópatas el 58 por ciento tenía entre 5 y 14 años de haber sido diagnosticado de diabetes.

Seleção e divergência genética de pessegueiros e nectarineiras e susceptibilidade a danos causados pelo frio na Estación Experimental de Aula Dei (CSIC)

The peaches and nectarines are highly appreciated by consumer, but it is climacteric fruits, with availability in the market in small time. It is necessary to invest to obtain genotypes with fruit quality and small perishability or that it presente less physiological disorders after storage. The aims of this work were i) to evaluate the genetic divergence among 40 peach and nectarine trees genotypes based on postharvest quality and select posible parents; ii) to evaluate the susceptibility to chilling injury in peaches and nectarines after cold storage; iii) to evaluate divergence of peaches and nectarines on the basis in the susceptibility for chiling injury and select superior genotypes; iv) evaluate the correlations between quality and susceptibility to chilling injury of peaches and nectarines v) select parents with the combination of lower susceptibility to chilling injury and higher quality fruit. The study was carried out in EEAD-CSIC, Zaragoza - Spain, during the production cycle 2013/2014. A total of 40 peaches and nectarines genotypes from germplasm collection were evaluated. The quality characteristics as flesh firmness, total soluble solids, titratable acidity, pH, rippining index and flesh color parameters were evaluated. The fruits were submitted to cold storage at 0 °C and 5 °C, with 95% average relative humidity. The evaluations were after 14 and 28 days, it being observed the presence of symptoms, such as wooliness through mealiness, flesh grainy, leatheriness and flesh color changes, through browning, bleeding and off flavor. As a selection parameter was adopted 20% of genotypes that had a higher frequency of superiority for quality characteristics, susceptibility to chilling injury and the combining of both. For quality characteristic presented greater divergence the ‘Queen Giant’, ‘Sudanel Blanco’ and ‘Borracho de Jarque’. Based on the quality the eight genotypes were selected, ‘Andross’, ‘San Jaime’, ‘San Lorenzo’, ‘Borracho de Jarque’, ‘Sudanell 1’, ‘Carson’, ‘Baby Gold 6’ and ‘Stanford’. All genotypes studied exhibited susceptibility to one or more symptoms caused by cold storage during 28 days, independent of temperature. For 14 days, the ‘Baby Gold 6’, ‘Flavortop’ and ‘Queen Giant’ genotypes did not show any physiological disorder caused by cold. In general, the temperature of 0 °C favored fruit postharvest conservation, it have a lower incidence and severity of symptoms caused by cold storage. The storage for 14 days contributed for the lower incidence of damage in the genotypes fruits studied. For 14 days, with both temperatures, it was observed divergence for ‘Queen Giant’, ‘Sudanell Blanco’, ‘Baby Gold 6’ ‘GF3’, ‘Baby Gold 8’, ‘Campiel’ and ‘Campiel Rojo’ genotypes. For 28 days, in the 5 °C condition, ‘Queen Giant’, ‘Big Top’, ‘Flavortop’ and ‘Redhaven’ genotypes were divergents. Based on susceptibility to chilling injury at 0 °C, the eight genotypes were selected, it being these, ‘Queen Giant’, ‘Keimoes’, ‘Flavortop’, ‘Big Top’, 'Redhaven', 'Sudanell 3', 'Bonet I' and ‘Carson’. The quality parameters as rippining index, soluble solids, firmness and titratable acidity presented correlation among them. These, also it had correlation with woolines and bowning, what it indicate that fruits with more ripening can have this symptoms more easily. The browning, mealiness, flesh grainy and off flavor variables were correlationed with the time period and temperartures, what it confirm that these symptoms are the main disorders caused by cold storage. The quality characteristics together susceptibility to chilling injury allowed selected ‘Baby Gold 6’, ‘Sarell’, ‘Keimoes’, ‘GF3’ ‘San Jaime’, ‘Big Top’, ‘Sudanell 1’, ‘Carson’, ‘Baby Gold 8’, and ‘San Lorenzo’ genotypes.

Caracterização de frutos, divergência genética e estrutura espacial de jaboticabeiras nativas de fragmento florestal em Clevelândia - PR

To design strategies for the conservation and use of genetic resources of tree species such as jaboticaba tree, it is essential to make the characterization. In southwestern Paraná region, there are several forest fragments containing native jaboticaba tree (Plinia cauliflora), whose materials have broad potential for commercial orchards or breeding programs. As is the potential genetic diversity of a population to produce different genotypes, it would be able to start in such a characterization one of these fragments. The aim was to characterize fruits of jaboticaba tree (P. caulifora) of forest fragment kept in Clevelândia - PR for the presence of phenotypic variability, seeking to identify those superiors named for future selection as farming or male parent, as well as estimate genetic divergence between them, as a complementary tool for this purpose. Also, verify the regeneration and spatial distribution of the species. For the study was defined portion of a hectare (10.000 m²), with all individuals identified, mapped, with local coordinate system, and measured height and diameter. Fruits were characterized by sensory and biochemical characteristics in two years, 70 genotypes at 2013 and 56 at 2014, and of these 33 genotypes in both years. As a pre-selection criteria was adopted the choice of 20% of the genotypes that showed the highest frequency of superiority in the evaluated characteristics of the fruit. Genetic divergence among 33 genotypes per year was analyzed. The distribution pattern and spatial association was evaluated by Ripley's K function. It was classified for the first time the following ontogenetic stages of jaboticaba tree, by plant height, seedling (from 0.01 to 0.99 m), juvenile (1.0 to 4.99 m), immature (> 5.0 m, non-reproductive), adult (reproductive). It was also have been describe for the first time the naturally occurring juxtaposed seedlings, indicating polyembryony. The number of regenerating identified in the population (seedlings: n = 2163; juveniles: n = 330; immature: n = 59) was much larger than the number of adults (n = 132). The species showed reverse J-shaped size structure standard, with high concentration of regenerating. The regeneration distribution occurs in aggregate pattern and there is seedling-adult dependence, due seed dispersal and seedling emergence closest to mothers. The jaboticaba tree regeneration is sufficient to maintain the species for long term in this population, which should serve as reference to regeneration success for other studies of this important fruiting species from Ombrofile Mixed Forests. Has been pre-selected the jaboticaba trees 7, 42, 43, 47, 54, 91, 97, 104, 105, 118, 134, 153, 154, 157, 163, 169, 177, 186, 212, J7-01 and J7- 02, and 16 and 194 the ones that can now be selected by the superior characteristics of both cycles. It was recommended to carry out hybridization between genotypes 79 and 119, and 96 to 148. The quality of fruit analyzed showed potential for use as a dual purpose serving both in natura market or processing.

Herança genética e marcadores moleculares associados à resistência de Euphorbia heterophylla L. aos herbicidas inibidores da ALS e PROTOX

This study aimed to assess the genetic inheritance, determine the better DNA isolation protocol for this species and to identify molecular markers associated with the Wild Poinsettia (Euphorbia heterophylla L.) resistance ALS- and PROTOX- inhibiting herbicides and. The genetic inheritance of resistance was determined from crosses between E. heterophylla biotypes susceptible (S) and resistant (R), backcrosses and F2 generation. The complete dominance of resistance was confirmed with dose response curves. Ten adjusted methods for DNA isolation described in the literature were tested. The specific primers for ALS and PROTOX genes were designed from the consensus DNA sequence of these genes, obtained by aligning the gene sequences of the species Manihot esculenta and Ricinus communis L. Additionally, it was assessed the transferability of twenty SSR (simple sequence repeat) markers designed for Manihot esculenta, because among the species of Euphorbiaceae with more developed SSRs markers, because it is the closest relative phylogenetic species of E. heterophylla. Regarding genetic inheritance, the frequencies observed in the F1, F2, RCs and RCr did not differ significantly from the expected frequencies for a trait controlled by two dominant genes for multiple resistance and a single dominant gene for simple resistance to ALS- and PROTOX-inhibiting herbicides. The similar levels of resistance to dosage up to 2000 g i.a. ha-1 of fomesafen and dosage up to 800 g i.a. ha-1 of imazethapyr observed in F1 (heterozygous) and homozygous R biotype confirm the complete dominance of resistance to PROTOX- and ALS-inhibiting herbicides, respectively. The 0.2%BME protocol allowed the isolation of 7,083 ng μL-1 DNA, significantly (P=0.05) higher than other methods. Co-isolation of phenolic compounds was observed in FENOL and 3%BME+TB methods, but the addition of polyvinylpyrrolidone (PVP40) in the protocol extraction buffer 3%BME+TA solved this problem. The primers designed for ALS and PROTOX genes amplified but not showed no visible polymorphism in agarose gel between the S and R biotypes of E. heterophylla. Regarding the SSR transferability, ten markers were transferred to E. heterophylla, however, these six primers showed polymorphism among S and R biotypes.

Retinopatia de Purtscher-like e pancreatite aguda

Retinopatia de Purtscher-like é uma baixa súbita da visão associada à imagem de múltiplas áreas branco-amareladas (manchas algodonosas) e hemorragias no pólo posterior de ambos os olhos. O exato mecanismo da injúria ainda não é claro, mas provavelmente seria de natureza embólica. Tem sido descrita em uma variedade de condições, incluindo pancreatite aguda, síndrome de embolia gordurosa, insuficiência renal,nascimento (parto e pós-parto), desordens do tecido conectivo, entre outras. Serão relatados três casos de pancreatite aguda confirmada pelos exames laboratoriais e história clínica, associadas a alterações no exame do fundo de olho, compatíveis com esta retinopatia

Avaliação demográfica, clinico-laboratorial e genética de indivíduos com lupus eritematoso sistêmico e artrite reumatóide residentes em região tropical

The aetiology of autoimmunes disease is multifactorial and involves interactions among environmental, hormonal and genetic factors. Many different genes may contribute to autoimmunes disease susceptibility. The major histocompatibility complex (MHC) genes have been extensively studied, however many non-polymorphic MHC genes have also been reported to contribute to autoimmune diseases susceptibility. The aim of the present study was to evaluate the influence of SLC11A1 gene in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Ninety-six patients with SLE, 37 with RA and 202 controls enrolled in this case-control study, were evaluated with regard to demographic, genetic, laboratorial and clinical data. SLE mainly affects females in the ratio of 18 women for each man, 88,3% of the patients aged from 15 to 45 years old and it occurs with similar frequency in whites and mulattos. The rate of RA between women and men was 11:1, with 77,1% of the cases occurring from 31 to 60 years. The genetic analysis of the point mutation -236 of the SLC11A1 gene by SSCP did not show significant differences between alleles/genotypes in patients with SLE or RA when compared to controls. The most frequent clinical manifestations in patients with SLE were cutaneous (87%) and joint (84.9%). In patients with RA, the most frequent out-joint clinical manifestation were rheumatoid nodules (13,5%). Antinuclear antibodies were present in 100% of the patients with SLE. There was no significant relation between activity of disease and presence of rheumatoid factor in patients with RA, however 55,6% of patients with active disease presented positive rheumatoid factor. Significant association between alleles/genotypes of point mutation -236 and clinical manifestations was not found

Análise da estabilidade genética de células-tronco mesenquimais humanas

Human multipotent mesenchymal stromal cells (MSCs), also known as mesenchymal stem cells, have become an important and attractive therapeutic tool since they are easily isolated and cultured, have in vitro expansion potential, substantial plasticity and secrete bioactive molecules that exert trophic effects. The human umbilical cord as a cell source for cell therapy will help to avoid several ethical, political, religious and technical issues. One of the main issues with SC lines from different sources, mainly those of embryonic origin, is the possibility of chromosomal alterations and genomic instability during in vitro expansion. Cells isolated from one umbilical cord exhibited a rare balanced paracentric inversion, likely a cytogenetic constitutional alteration, karyotype: 46,XY,inv(3)(p13p25~26). Important genes related to cancer predisposition and others involved in DNA repair are located in 3p25~26. Titanium is an excellent biomaterial for bone-implant integration; however, the use can result in the generation of particulate debris that can accumulate in the tissues adjacent to the prosthesis, in the local bone marrow, in the lymph nodes, liver and spleen. Subsequently may elicit important biological responses that aren´t well studied. In this work, we have studied the genetic stability of MSC isolated from the umbilical cord vein during in vitro expansion, after the cryopreservation, and under different concentrations and time of exposition to titanium microparticles. Cells were isolated, in vitro expanded, demonstrated capacity for osteogenic, adipogenic and chondrogenic differentiation and were evaluated using flow cytometry, so they met the minimum requirements for characterization as MSCs. The cells were expanded under different concentrations and time of exposition to titanium microparticles. The genetic stability of MSCs was assessed by cytogenetic analysis, fluorescence in situ hybridization (FISH) and analysis of micronucleus and other nuclear alterations (CBMN). The cells were able to internalize the titanium microparticles, but MSCs preserve their morphology, differentiation capacity and surface marker expression profiles. Furthermore, there was an increase in the genomic instability after long time of in vitro expansion, and this instability was greater when cells were exposed to high doses of titanium microparticles that induced oxidative stress. It is necessary always assess the risks/ benefits of using titanium in tissue therapy involving MSCs, considering the biosafety of the use of bone regeneration using titanium and MSCs. Even without using titanium, it is important that the therapeutic use of such cells is based on analyzes that ensure quality, security and cellular stability, with the standardization of quality control programs appropriate. In conclusion, it is suggested that cytogenetic analysis, FISH analysis and the micronucleus and other nuclear alterations are carried out in CTMH before implanting in a patient

Estrutura genética populacional de Lutjanus analis cioba e Lutjanus jocu dentão (Lutjanidae) ao longo do litoral brasileiro

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Desarrollo de plataforma tecnológica de soporte en procesos de detección, atención y seguimiento de pacientes con retinopatía diabética

Bogotá (Colombia): Universidad de La Salle. Facultad de Ingeniería. Programa de Ingeniería en Automatización

Análisis de conocimientos, hábitos y destrezas en una población diabética infantil: intervención de Enfermería

Introducción: Numerosos estudios han tratado de verificar la eficacia de una intervención educativa en pacientes diabéticos tipo 1 (DM1). Objetivos: Analizar los conocimientos previos a la intervención educativa sobre hábitos alimentarios y ejercicio físico, comprobar una posible mejora del nivel de estos conocimientos tras la intervención y verificar la adquisición de destrezas relacionadas con el autoanálisis y la autoinyección. Metodología: Se incluyeron 32 pacientes con DM1 de entre 4 y 14 años de Melilla. Mediante un cuestionario se analizaron los conocimientos sobre alimentación y ejercicio físico, y los hábitos sobre los mismos, mediante cuestionario Krece-Plus. Se realizó una intervención educativa y se analizaron nuevamente dichos conocimientos, así como las destrezas adquiridas sobre autoanálisis y autoinyección con un nuevo cuestionario. Resultados: En relación a los conocimientos sobre dieta y ejercicio físico, se alcanzó una mejora significativa (p<0,0001) tras la intervención. Igualmente, los resultados mostraron una mejora en los hábitos de alimentación y ejercicio físico. El estudio de destrezas sobre autoanálisis y autoinyección reveló que los sujetos eran independientes en los procesos de autoanálisis de glucemia y autoinyección de insulina tras la intervención. Conclusión: Una intervención educativa llevada a cabo por enfermeras especializadas constituye un procedimiento efectivo para mejorar y aumentar los conocimientos de pacientes con DM1 sobre alimentación, ejercicio físico y sobre la propia enfermedad, así como un incentivo para adquirir hábitos saludables respecto a alimentación y ejercicio físico.