Affectivity, sexuality, and autism spectrum disorder: qualitative analysis of the experiences of autistic young adults and their families.

BACKGROUND: Autistic people have communication, sensorial, and social difficulties, which on many occasions, make their adaptation on the sexual and affective levels difficult. For this reason, it is important to know the opinion of individuals with autism spectrum disorders (ASD) and their families, to offer this perspective to professionals to facilitate adapted health education programs in mental health units. METHODS: This qualitative descriptive design presents the experiences of autistic individuals and their families in relation to the affective-sexual experiences from individual, family, and social perspectives. Two focus group sessions were held with eight family members and seven individual semi-structured interviews with autistic young adults. The transcripts were qualitatively analysed using content analysis. RESULTS: Four themes (Family and social dynamic; Social behaviour of the autistic individual; Affective-sexual relationships; Addressing affective and sex education) and 13 related categories emerged from these results. Communication and social interaction problems act as barriers for young adults when developing affective-sexual relationships, leading to the emergence of negative feelings and experiences that reinforce avoidance behaviours, further intensifying their difficulties in interacting with others. Families, especially mothers, exhibit a poor perception of their ability to provide affective-sexual guidance, leading to anxiety and frustration. There are also reports of poor sex education and lack of support systems. CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: The experiences of young people and their families are sometimes conflicting when it comes to affectivity and sexuality, but the parental role emerges as relevant in the sex education process. Families play a pivotal role in sex education, which is why professionals should provide them with support and information through health education programmes, foster empathetic communication and promote sexual and emotional development that is adapted to the characteristics and interests of autistic people.

Affectivity and Sexuality in Adolescents with Autism Spectrum Disorder from the Perspective of Education and Healthcare Professionals: A Qualitative Study.

People with autism spectrum disorder (ASD) present several different characteristics that predispose them to greater difficulties with intimate emotional and sexual relationships. This qualitative study uncovers the perspective of education and healthcare professionals on the affective and sexual needs of young people with ASD by analysing their narratives in semi-structured focus group sessions. Professionals highlight the inadequate training they receive in this aspect of health. They consider it should be commonplace for professionals working with autistic people as it would aid their collaborative efforts when treating children and adolescents with ASD. They show that, by working together with the families to establish joint objectives, these professionals can appropriately address sex and affective education, preventing risky behaviours among young people with ASD, and improving the interactions these individuals have with others. Sex and affective education is described as an indispensable tool at this stage of development and should be specially adapted for those with ASD.

Shaping the biology of citrus: II. Genomic determinants of domestication.

We performed genomic analyses on species and varieties of the genus Citrus to identify several determinants of domestication, based on the pattern of pummelo [Citrus maxima (Burr. f) Merr] and mandarin (Citrus reticulata Blanco) admixture into the ancestral genome, as well as population genetic tests at smaller scales. Domestication impacted gene families regulating pivotal components of citrus flavor (such as acidity) because in edible mandarin varieties, chromosome areas with negative Tajimas values were enriched with genes associated with the regulation of citric acid. Detection of sweeps in edible mandarins that diverged from wild relatives indicated that domestication reduced chemical defenses involving cyanogenesis and alkaloid synthesis, thus increasing palatability. Also, a cluster of SAUR genes in domesticated mandarins derived from the pummelo genome appears to contain candidate genes controlling fruit size. Similarly, conserved stretches of pure mandarin areas were likely important as well for domestication, as, for example, a fragment in chromosome 1 that is involved in the apomictic reproduction of most edible mandarins. Interestingly, our results also support the hypothesis that various genes subject to selective pressure during evolution or derived from whole genome duplication events later became potential targets of domestication.

Shaping the biology of citrus: I. Genomic determinants of evolution.

We performed genomic analyses on wild species of the genus Citrus to identify major determinants of evolution. The most notable effect occurred on the pathogen-defense genes, as observed in many other plant genera. The gene space was also characterized by changes in gene families intimately related to relevant biochemical properties of citrus fruit, such as pectin modifying enzymes, HDR (4-hydroxy-3-methylbut-2-enyl diphosphate reductase) genes, and O-methyltransferases. Citrus fruits are highly abundant on pectins and secondary metabolites such as terpenoids and flavonoids, the targets of these families. Other gene types under positive selection, expanded through tandem duplications and retained as triplets from whole genome duplications, codified for purple acid phosphatases and MATE-efflux proteins. Although speciation has not been especially rapid in the genus, analyses of selective pressure at the codon level revealed that the extant species evolved from the ancestral citrus radiation show signatures of pervasive adaptive evolution and is therefore potentially responsible for the vast phenotypic differences observed among current species.

Determinants of the Consumption of Regular Soda, Sport, and Energy Beverages in Spanish Adolescents.

Increasing sugar-sweetened beverages (SSB) consumption and associated health impacts warrant health-policy action. We assessed associations of socioeconomic and lifestyle variables with adolescents' consumption of regular soda (RSD), sport (SD), and energy (ED) drinks. Cross-sectional study of 3930 Spanish adolescents (2089 girls, 1841 boys) aged 13-18 years). We compared frequency of consuming each SSB type (European Food Safety Authority questionnaire) with sociodemographic and lifestyle variables (standardized questions). RSD, SD, and ED were consumed at least weekly by 72.7%, 32.3%, and 12.3% of participants, respectively, and more frequently (p < 0.001) by boys, compared to girls. Multivariate ordinal logistic regression showed inverse association between RSD, SD, and ED consumption and parental occupation-based socioeconomic status (p < 0.01). Daily smoking was associated (p < 0.001) with higher ED (OR 3.64, 95% CI 2.39-5.55) and RSD (OR 2.15, 95% CI 1.56-2.97) consumptions. SD intake was associated inversely with smoking (OR 0.60, 95% CI 0.40-0.89, p = 0.012) and directly with physical activity (OR 2.93, 95% CI 2.18-3.95, p < 0.001). School performance was lower among ED (OR 2.14, 95% CI, 1.37-3.35, p = 0.001) and RSD (OR 1.81, 95% CI 1.24-2.64, p = 0.002) consumers, compared to SD. Maleness and low socioeconomic status predicted SSB consumption. Smoking and low school performance were associated with higher ED and RSD intakes.

Consumo de bebidas refrescantes, deportivas y energéticas en adolescentes. Estudio BEENIS / Consumption of soft, sports, and energy drinks in adolescents. The BEENIS study

INTRODUCCIÓN: Actualmente, la gran oferta de bebidas no alcohólicas se agrupa en refrescantes, deportivas y energéticas, todas ellas con un alto contenido en azúcares y su conocido riesgo de obesidad. Cada vez es más frecuente su consumo y en circunstancias no recomendables, con un elevado riesgo sobre la salud. El consumo real de bebidas deportivas y de energéticas no es bien conocido. OBJETIVO: Conocer los hábitos y el consumo de bebidas refrescantes, deportivas y energéticas en adolescentes. MATERIAL Y MÉTODOS: Estudio transversal descriptivo. Se obtuvieron las encuestas de 4.769 alumnos de 13 a 18años de Sabadell, Barcelona. RESULTADOS: La prevalencia de consumo de bebidas refrescantes se observó en el 92,9% de los alumnos y se realizaba preferentemente en momentos de ocio, durante las comidas y en cualquier momento del día. En deportivas fue del 61,7%, preferentemente al realizar deporte y en momentos de ocio. En energéticas fue del 49,2%, principalmente en momentos de ocio (un 49% las mezclaba con alcohol) y al realizar deporte. El consumo simultáneo de los tres tipos fue del 38%, y las bebidas refrescantes siempre eran las más habituales. DISCUSIÓN: Se describe el consumo bebidas deportivas, normalmente incluidas en las bebidas refrescantes, así como el consumo simultáneo de los tres tipos de bebidas y de los momentos en que son consumidas. Disponemos de un diagnóstico del consumo de estas bebidas en los adolescentes de nuestro ámbito que nos permitirá diseñar y evaluar intervenciones educativas para concienciar a la población adolescente y a sus familias

INTRODUCTION: The wide range of non-alcoholic drinks are currently grouped as soft (carbonated), sports, and energy drinks, and all of them have a high sugar content, along with their known risk of obesity. Their consumption is increasing and in inadvisable circumstances, as well as an elevated health risk. The real consumption of sports and energy drinks is not well known. OBJECTIVE: To determine the habits and consumption of soft, sports, and energy drinks in adolescents. MATERIAL AND METHODS: A descriptive, cross-sectional study was performed in which questionnaires were obtained from 4,769 schoolchildren from 13 to 18years-old from de Sabadell, Barcelona, Spain. RESULTS: The prevalence of consuming soft drinks was observed in 92.9% of the adolescents, and was predominantly done during leisure time, during meals, or any time during the day. In sports it was 61.7%, mainly on practising the sport and in leisure time. In energy drinks, it was 49.2%, mainly in leisure time (they were mixed with alcohol in 49%) and on practising sport. The simultaneous consumption of the three types was 38%, and soft drinks were the most common. DISCUSSION: A description is presented on the consumption of sports drinks, normally included as soft drinks, as well as the simultaneous consumption of the three types of drinks, and the time in which they are consumed. We have a diagnostic tool of consumption of these drinks by adolescents in our setting that will enable us to design and evaluate educational interventions in order to make the adolescent population and their families aware

[Consumption of soft, sports, and energy drinks in adolescents. The BEENIS study]. / Consumo de bebidas refrescantes, deportivas y energéticas en adolescentes. Estudio BEENIS.

INTRODUCTION: The wide range of non-alcoholic drinks are currently grouped as soft (carbonated), sports, and energy drinks, and all of them have a high sugar content, along with their known risk of obesity. Their consumption is increasing and in inadvisable circumstances, as well as an elevated health risk. The real consumption of sports and energy drinks is not well known. OBJECTIVE: To determine the habits and consumption of soft, sports, and energy drinks in adolescents. MATERIAL AND METHODS: A descriptive, cross-sectional study was performed in which questionnaires were obtained from 4,769 schoolchildren from 13 to 18years-old from de Sabadell, Barcelona, Spain. RESULTS: The prevalence of consuming soft drinks was observed in 92.9% of the adolescents, and was predominantly done during leisure time, during meals, or any time during the day. In sports it was 61.7%, mainly on practising the sport and in leisure time. In energy drinks, it was 49.2%, mainly in leisure time (they were mixed with alcohol in 49%) and on practising sport. The simultaneous consumption of the three types was 38%, and soft drinks were the most common. DISCUSSION: A description is presented on the consumption of sports drinks, normally included as soft drinks, as well as the simultaneous consumption of the three types of drinks, and the time in which they are consumed. We have a diagnostic tool of consumption of these drinks by adolescents in our setting that will enable us to design and evaluate educational interventions in order to make the adolescent population and their families aware.

Consumption of soft, sports, and energy drinks in adolescents. The BEENIS study.

INTRODUCTION: The wide range of non-alcoholic drinks are currently grouped as soft (carbonated), sports, and energy drinks, and all of them have a high sugar content, along with their known risk of obesity. Their consumption is increasing and in inadvisable circumstances also an elevated health risk. The real consumption of sports and energy drinks is not well known. OBJECTIVE: To determine the habits and consumption of soft, sports, and energy drinks in adolescents. MATERIAL AND METHODS: A descriptive, cross-sectional study was performed in which questionnaires were obtained from 4769 schoolchildren from 13-18 years-old from Sabadell, Barcelona, Spain. RESULTS: The prevalence of consuming soft drinks was observed in 92.9% of the adolescents, and was predominantly done during leisure time, during meals, or any time during the day. In sports it was 61.7%, mainly on practising the sport and in leisure time. In energy drinks, it was 49.2%, mainly in leisure time (they were mixed with alcohol in 49%) and on practising sport. The simultaneous consumption of the three types was 38%, and soft drinks were the most common. DISCUSSION: A description is presented on the consumption of sports drinks, normally included as soft drinks, as well as the simultaneous consumption of the three types of drinks, and the time in which they are consumed. We have a diagnostic tool of consumption of these drinks by adolescents in our setting that will enable us to design and evaluate educational interventions in order to make the adolescent population and their families aware.

Reprogramming of Retrotransposon Activity during Speciation of the Genus Citrus.

Speciation of the genus Citrus from a common ancestor has recently been established to begin ∼8 Ma during the late Miocene, a period of major climatic alterations. Here, we report the changes in activity of Citrus LTR retrotransposons during the process of diversification that gave rise to the current Citrus species. To reach this goal, we analyzed four pure species that diverged early during Citrus speciation, three recent admixtures derived from those species and an outgroup of the Citrus clade. More than 30,000 retrotransposons were grouped in ten linages. Estimations of LTR insertion times revealed that retrotransposon activity followed a species-specific pattern of change that could be ascribed to one of three different models. In some genomes, the expected pattern of gradual transposon accumulation was suddenly arrested during the radiation of the ancestor that gave birth to the current Citrus species. The individualized analyses of retrotransposon lineages showed that in each and every species studied, not all lineages follow the general pattern of the species itself. For instance, in most of the genomes, the retrotransposon activity of elements from the SIRE lineage reached its highest level just before Citrus speciation, while for Retrofit elements, it has been steadily growing. Based on these observations, we propose that Citrus retrotransposons may respond to stressful conditions driving speciation as a part of the genetic response involved in adaptation. This proposal implies that the evolving conditions of each species interact with the internal regulatory mechanisms of the genome controlling the proliferation of mobile elements.

Genomics of the origin and evolution of Citrus.

The genus Citrus, comprising some of the most widely cultivated fruit crops worldwide, includes an uncertain number of species. Here we describe ten natural citrus species, using genomic, phylogenetic and biogeographic analyses of 60 accessions representing diverse citrus germ plasms, and propose that citrus diversified during the late Miocene epoch through a rapid southeast Asian radiation that correlates with a marked weakening of the monsoons. A second radiation enabled by migration across the Wallace line gave rise to the Australian limes in the early Pliocene epoch. Further identification and analyses of hybrids and admixed genomes provides insights into the genealogy of major commercial cultivars of citrus. Among mandarins and sweet orange, we find an extensive network of relatedness that illuminates the domestication of these groups. Widespread pummelo admixture among these mandarins and its correlation with fruit size and acidity suggests a plausible role of pummelo introgression in the selection of palatable mandarins. This work provides a new evolutionary framework for the genus Citrus.

Comparative study of the banana pulp browning process of 'Giant Dwarf' and FHIA-23 during fruit ripening based on image analysis and the polyphenol oxidase and peroxidase biochemical properties.

This work presents a novel method to associate the polyphenol oxidase (PPO) and the peroxidase (POD) activities with the ripening-mediated color changes in banana peel and pulp by computational image analysis. The method was used to follow up the de-greening of peel and browning of homogenized pulp from 'Giant Dwarf' (GD: Musa AAA, subgroup Cavendish) and FHIA-23 (tetraploid hybrid, AAAA) banana cultivars. In both cultivars, the color changes of peel during the ripening process clearly showed four stages, which were used to group the fruit into ripening stages. The PPO and POD were extracted from pulp of fruit at these ripening stages, precipitated, and partially purified by gel filtration chromatography. Moreover, the pulp browning was digitally monitored after homogenization for a span time of up to 120 min. The browning level was higher for GD than FHIA-23 tissues. This fact correlated with an 11.7-fold higher PPO activity in the GD cultivar, as compared with that of FHIA-23. POD activity was 8.1 times higher for GD as compared that that of FHIA-23.

Continuidad asistencial desde atención primaria en un plan de cuidados interniveles para un caso de trasplante hepático pediátrico / Assistance continuity from primary care in an inter-level nursing plan for a case of pediatric liver transplant

España es uno de los países donde más trasplantes de órgano sólido se realizan al año, de los cuales, según datos del 2014, un 2,7% se dan en la edad pediátrica. Dada la complejidad y la gravedad de la patología es necesario establecer un plan de cuidados que abarque tanto el pretrasplante como el postrasplante, con una estrecha colaboración entre los diferentes niveles asistenciales para abordar los variados problemas que se presentan y así asegurar la continuidad asistencial. En el siguiente caso, una adolescente de origen gambiano en riesgo de exclusión social hizo que la colaboración entre la enfermera de asistencia primaria y la enfermera de trasplante de órgano sólido fuera clave para dar continuidad a los cuidados. Se utilizaron múltiples estrategias en el plan de cuidados para garantizar una mejor adherencia y cumplimiento terapéutico. A pesar de ello, se ha de profundizar en el conocimiento de la cultura de origen para establecer planes de cuidados más individualizados y mejorar así los resultados. El plan de cuidados incluyó problemas formulados de acuerdo con la taxonomía NANDA, NOC, NIC

Spain is one of the countries where most solid organ transplants are performed each year, in the year 2014 a 2.7% of them were given in childhood. Given the complexity and severity of this disease it is necessary to establish a care plan that covers both pre-transplant and post-transplant, with close cooperation between different levels of care, to approach the several problems that can appear and assure continuum of care. In the following example, a Gambian teen with risk of social exclusion fostered a collaboration between the primary care nurse and transplant nurse that was the key to continuum care. Multiple strategies were used in the care plan to ensure better adherence and compliance of the treatment. However, the knowledge of the culture of origin must be deepened to establish more individualized care plans and thus improve results. The care plan included problems according to the NANDA, NOC, NIC taxonomy

Assistance continuity from primary care in an inter-level nursing plan for a case of pediatric liver transplant. / Continuidad asistencial desde atención primaria en un plan de cuidados interniveles para un caso de trasplante hepático pediátrico.

Spain is one of the countries where most solid organ transplants are performed each year, in the year 2014 a 2.7% of them were given in childhood. Given the complexity and severity of this disease it is necessary to establish a care plan that covers both pre-transplant and post-transplant, with close cooperation between different levels of care, to approach the several problems that can appear and assure continuum of care. In the following example, a Gambian teen with risk of social exclusion fostered a collaboration between the primary care nurse and transplant nurse that was the key to continuum care. Multiple strategies were used in the care plan to ensure better adherence and compliance of the treatment. However, the knowledge of the culture of origin must be deepened to establish more individualized care plans and thus improve results. The care plan included problems according to the NANDA, NOC, NIC taxonomy.

A Phylogenetic Analysis of 34 Chloroplast Genomes Elucidates the Relationships between Wild and Domestic Species within the Genus Citrus.

Citrus genus includes some of the most important cultivated fruit trees worldwide. Despite being extensively studied because of its commercial relevance, the origin of cultivated citrus species and the history of its domestication still remain an open question. Here, we present a phylogenetic analysis of the chloroplast genomes of 34 citrus genotypes which constitutes the most comprehensive and detailed study to date on the evolution and variability of the genus Citrus. A statistical model was used to estimate divergence times between the major citrus groups. Additionally, a complete map of the variability across the genome of different citrus species was produced, including single nucleotide variants, heteroplasmic positions, indels (insertions and deletions), and large structural variants. The distribution of all these variants provided further independent support to the phylogeny obtained. An unexpected finding was the high level of heteroplasmy found in several of the analyzed genomes. The use of the complete chloroplast DNA not only paves the way for a better understanding of the phylogenetic relationships within the Citrus genus but also provides original insights into other elusive evolutionary processes, such as chloroplast inheritance, heteroplasmy, and gene selection.

Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation.

BACKGROUND: Transposable-element mediated chromosomal rearrangements require the involvement of two transposons and two double-strand breaks (DSB) located in close proximity. In radiobiology, DSB proximity is also a major factor contributing to rearrangements. However, the whole issue of DSB proximity remains virtually unexplored. RESULTS: Based on DNA sequencing analysis we show that the genomes of 2 derived mutations, Arrufatina (sport) and Nero (irradiation), share a similar 2 Mb deletion of chromosome 3. A 7 kb Mutator-like element found in Clemenules was present in Arrufatina in inverted orientation flanking the 5' end of the deletion. The Arrufatina Mule displayed "dissimilar" 9-bp target site duplications separated by 2 Mb. Fine-scale single nucleotide variant analyses of the deleted fragments identified a TTC-repeat sequence motif located in the center of the deletion responsible of a meiotic crossover detected in the citrus reference genome. CONCLUSIONS: Taken together, this information is compatible with the proposal that in both mutants, the TTC-repeat motif formed a triplex DNA structure generating a loop that brought in close proximity the originally distinct reactive ends. In Arrufatina, the loop brought the Mule ends nearby the 2 distinct insertion target sites and the inverted insertion of the transposable element between these target sites provoked the release of the in-between fragment. This proposal requires the involvement of a unique transposon and sheds light on the unresolved question of how two distinct sites become located in close proximity. These observations confer a crucial role to the TTC-repeats in fundamental plant processes as meiotic recombination and chromosomal rearrangements.

Sequencing of diverse mandarin, pummelo and orange genomes reveals complex history of admixture during citrus domestication.

Cultivated citrus are selections from, or hybrids of, wild progenitor species whose identities and contributions to citrus domestication remain controversial. Here we sequence and compare citrus genomes--a high-quality reference haploid clementine genome and mandarin, pummelo, sweet-orange and sour-orange genomes--and show that cultivated types derive from two progenitor species. Although cultivated pummelos represent selections from one progenitor species, Citrus maxima, cultivated mandarins are introgressions of C. maxima into the ancestral mandarin species Citrus reticulata. The most widely cultivated citrus, sweet orange, is the offspring of previously admixed individuals, but sour orange is an F1 hybrid of pure C. maxima and C. reticulata parents, thus implying that wild mandarins were part of the early breeding germplasm. A Chinese wild 'mandarin' diverges substantially from C. reticulata, thus suggesting the possibility of other unrecognized wild citrus species. Understanding citrus phylogeny through genome analysis clarifies taxonomic relationships and facilitates sequence-directed genetic improvement.

Cytological and molecular characterization of three gametoclones of Citrus clementina.

BACKGROUND: Three gametoclonal plants of Citrus clementina Hort. ex Tan., cv. Nules, designated ESP, FRA, and ITA (derived from three labs in Spain, France, and Italy, respectively), were selected for cytological and molecular characterization in order to elucidate genomic rearrangements provoked by haploidization. The study included comparisons of their ploidy, homozygosity, genome integrity, and gene dosage, using chromosome counting, flow cytometry, SSR marker genotyping, and array-Comparative Genomic Hybridization (array-CGH). RESULTS: Chromosome counting and flow cytometry revealed that ESP and FRA were haploid, but ITA was tri-haploid. Homozygous patterns, represented by a single peak (allele), were observed among the three plants at almost all SSR loci distributed across the entire diploid donor genome. Those few loci with extra peaks visualized as output from automated sequencing runs, generally low or ambiguous, might result from amplicons of paralogous members at the locus, non-specific sites, or unexpected recombinant alleles. No new alleles were found, suggesting the genomes remained stable and intact during gametogenesis and regeneration. The integrity of the haploid genome also was supported by array-CGH studies, in which genomic profiles were comparable to the diploid control. CONCLUSIONS: The presence of few gene hybridization abnormalities, corroborated by gene dosage measurements, were hypothetically due to the segregation of hemizygous alleles and minor genomic rearrangements occurring during the haploidization procedure. In conclusion, these plants that are valuable genetic and breeding materials contain completely homozygous and essentially intact genomes.