Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

International audience

The Influence of Pre-Migration Factors and Post-Migration Climate of the Receiving Community on the Psychological Distress of Latino Immigrants

Over forty million foreign-born residents currently live in the United States. Latinos make up the largest population of immigrants living in the U.S. Previous research suggests that Latino immigrants often experience pre-migration stressors, such as traumatic experiences, political upheaval, and unplanned migration. These stressors may have a negative impact on immigrants’ post-migration mental health. Research also suggests that the post-migration climate of the receiving community may inform the connection between pre-migration experiences and post-migration mental health. The current study examined the relationship between Latino immigrants’ reasons for migration, migration planning, and pre-migration experience of political and/or interpersonal violence, and post-migration symptoms of psychological distress. In addition to examining the effect of these pre-migration factors, the current study also examined the community “climate” experienced by Latino immigrants post-migration by assessing the influence of three post-migration factors: 1) community support and engagement, 2) discrimination, and 3) employment. The study was a secondary analysis of data collected for the National Latino and Asian American Study, which focused on the mental health and service utilization of Latinos and Asian Americans. Participants included 1,629 Latino immigrants from across the United States. Results indicated that pre-migration experience of political and/or interpersonal trauma, post-migration experience of discrimination, and female sex were positively associated with psychological distress. Post-migration employment was negatively associated with psychological distress. In addition, discrimination modified the association between unplanned migration and psychological distress; the relationship between unplanned migration and psychological distress decreased for participants who reported more discrimination. Furthermore, employment modified the association between political and/or interpersonal trauma and psychological distress; the connection between trauma and psychological distress increased among those who reported having less employment. Recommendations for further research were presented. Policy and clinical practice implications were discussed, particularly given the current climate of high anti-immigrant sentiment and hostility in the U.S.

The Impact of Childhood Sexual Abuse on Later Parenting Self-Perceptions: The Moderating Effect of Family Support

Childhood sexual abuse has been found to be a risk factor for developing negative parenting self-perceptions later in life. Given this established relationship, it is crucial to investigate factors that may mitigate negative outcomes, such as family support. The present study used secondary analysis of a dataset of 265 predominantly African-American and low-income mothers. This study examined differences in parenting self-perceptions among mothers who experienced childhood sexual abuse and those who did not. Analyses revealed that mothers who experienced childhood sexual abuse did not differ in terms of parenting self-perceptions from non-sexually-abused mothers. After controlling for depression, there was no moderating effect of family support; however, a main effect for family support was observed. The results indicate that depression plays a larger role in mothers’ parenting self-perceptions than childhood sexual abuse, and that family support is beneficial for all mothers, regardless of sexual abuse status. Clinical implications are discussed.

Connecting the dots: Examining the role of parental beliefs and preschoolers’ affect and engagement in predicting parent-child number exploration during a meaningful math experience

The current study examined the frequency and quality of how 3- to 4-year-old children and their parents explore the relations between symbolic and non-symbolic quantities in the context of a playful math experience, as well as the role of both parent and child factors in this exploration. Preschool children’s numerical knowledge was assessed while parents completed a survey about the number-related experiences they share with their children at home, and their math-related beliefs. Parent-child dyads were then videotaped playing a modified version of the card game War. Results suggest that parents and children explored quantity explicitly on only half of the cards and card pairs played, and dyads of young children and those with lower number knowledge tended to be most explicit in their quantity exploration. Dyads with older children, on the other hand, often completed their turns without discussing the numbers at all, likely because they were knowledgeable enough about numbers that they could move through the game with ease. However, when dyads did explore the quantities explicitly, they focused on identifying numbers symbolically, used non-symbolic card information interchangeably with symbolic information to make the quantity comparison judgments, and in some instances, emphasized the connection between the symbolic and non-symbolic number representations on the cards. Parents reported that math experiences such as card game play and quantity comparison occurred relatively infrequently at home compared to activities geared towards more foundational practice of number, such as counting out loud and naming numbers. However, parental beliefs were important in predicting both the frequency of at-home math engagement as well as the quality of these experiences. In particular, parents’ specific beliefs about their children’s abilities and interests were associated with the frequency of home math activities, while parents’ math-related ability beliefs and values along with children’s engagement in the card game were associated with the quality of dyads’ number exploration during the card game. Taken together, these findings suggest that card games can be an engaging context for parent-preschooler exploration of numbers in multiple representations, and suggests that parents’ beliefs and children’s level of engagement are important predictors of this exploration.

Experimentally Testing the Effect of Parent-Adolescent Conflict on HIV Risk, and Investigation of a Neurobiological Moderator of This Effect

Human immunodeficiency virus (HIV) is a condition in which immune cells become destroyed such that the body may become unable to fight off infections. Engaging in risk-taking behaviors (e.g., substance use) puts people at heightened risk for HIV infection, with mid-to-late adolescents at increasing risk (Leigh & Stall, 1993). Environmental and neurological reasons have been suggested for increased risk-taking among adolescents. First, family-level precursors such as parent-adolescent conflict have been significantly associated with and may pose risk for engaging in substance use and risk-taking (Duncan, Duncan, Biglan, & Ary, 1998). Thus, parent-adolescent conflict may be an important proximal influence on HIV risk behaviors (Lester et al., 2010; Rowe, Wang, Greenbaum, & Liddle, 2008). Yet, the temporal relation between parent-adolescent conflict and adolescent HIV risk-taking behaviors is still unknown. Second, at-risk adolescents may carry a neurobiological predisposition for engaging in trait-like expressions of disinhibited behavior and other risk-taking behaviors (Iacono, Malone, & McGue, 2008). When exposed to interpersonally stressful situations, their likelihood of engagement in HIV risk behaviors may increase. To investigate the role of parent-adolescent conflict in adolescent HIV risk-taking behaviors, 49 adolescents ages 14-17 and their parent were randomly assigned to complete a standardized discussion task to discuss a control topic or a conflict topic. Immediately after the discussion, adolescents completed a laboratory risk-taking measure. In a follow-up visit, eligible adolescents underwent electrophysiological (EEG) recording while completing a task designed to assess the presence of a neurobiological marker for behavioral disinhibition which I hypothesized would moderate the links between conflict and risk-taking. First, findings indicated that during the discussion task, adolescents in the conflict condition evidenced a significantly greater psychophysiological stress response relative to adolescents in the control condition. Second, a neurobiological marker of behavioral disinhibition moderated the relation between discussion condition and adolescent risk-taking, such that adolescents evidencing relatively high levels of a neurobiological marker related to sensation-seeking evidenced greater levels of risk-taking following the conflict condition, relative to the control condition. Lastly, I observed no significant relation between parent-adolescent conflict, the neurobiological marker of behavioral disinhibition and adolescent engagement in real-world risk-taking behavior.

PHYTOPLANKTON AND NUTRIENT DYNAMICS WITH A FOCUS ON NITROGEN FORM IN THE ANACOSTIA RIVER, IN WASHINGTON, D.C. AND WEST LAKE, IN HANGZHOU, CHINA

Nutrient loading has been linked with severe water quality impairment, ranging from hypoxia to increased frequency of harmful algal blooms (HABs), loss of fisheries, and changes in biodiversity. Waters around the globe are experiencing deleterious effects of eutrophication; however, the relative amount of nitrogen (N) and phosphorus (P) reaching these waters is not changing proportionately, with high N loads increasingly enriched in chemically-reduced N forms. Research involving two urban freshwater and nutrient enriched systems, the Anacostia River, USA, a tributary of the Potomac River feeding into the Chesapeake Bay, and West Lake, Hangzhou, Zhejiang Province, China, was conducted to assess the response of phytoplankton communities to changing N-form and N/P-ratios. Field observations involving the characterization of ambient phytoplankton communities and N-forms, as well as experimental (nutrient enrichment) manipulations were used to understand shifts in phytoplankton community composition with increasing NH4+ loads. In both locations, a >2-fold increase in ambient NH4+:NO3- ratios was followed by a shift in the phytoplankton community, with diatoms giving way to chlorophytes and cyanobacteria. Enrichment experiments mirrored this, in that samples enriched with NH4+ lead to increased abundance of chlorophytes and cyanobacteria. This work shows that in both of these systems experiencing nutrient enrichment that NH4+ supports communities dominated by more chlorophytes and cyanobacteria than other phytoplankton groups.

Pinning Down Identity in Social Media: Food Cultural Transfer on Pinterest

This research has been conducted within the realm of where today’s digital media society and the timeless concept of cultural identity overlap. The aim of this thesis is to explore the nature of online cultural identity management. By focusing on the social media platform, Pinterest, this study considers the food-pinning behavior of a group of Americans living in Finland and connects their online actions with their cultural identity. Through an examination of Pinterest as a social space, and even a third place, the relative theoretical literature provides and interesting background for a contemporary discussion on the matter. Literature on food as a cultural marker is also brought into consideration. Using the methods of introspection and an adapted version of virtual ethnography, a study was conducted, and ultimately, the analysis of data obtained from the Pinterest boards of ten individuals shows that the vast majority of food-related information in this setting is US-sourced. A questionnaire provides further insight into the individuals’ Pinterest usage. I argue that pinning is an act of online identity management, whether it is a conscious act or a situational effect, and that using Pinterest maintains and even strengthens these individuals’ cultural identity as Americans. This study adds to current discussions pertaining to transnationalism, globalization, and online cultural identity, as well as opens channels for further research on this dynamic topic, which is needed to understand ourselves as cultural beings in the digital age.

Trends in Water Quality within the Broward County Portion of the Biscayne Aquifer

Continuous and reliable monitoring of contaminants in drinking water, which adversely affect human health, is the main goal of the Broward County Well Field Protection Program. In this study the individual monitoring station locations were used in a yearly and quarterly spatiotemporal Ordinary Kriging interpolation to create a raster network of contaminant detections. In the final analysis, the raster spatiotemporal nitrate concentration trends were overlaid with a pollution vulnerability index to determine if the concentrations are influenced by a set of independent variables. The pollution vulnerability factors are depth to water, recharge, aquifer media, soil, impact to vadose zone, and conductivity. The creation of the nitrate raster dataset had an average RMS Standardized error close to 1 at 0.98. The greatest frequency of detections and the highest concentrations are found in the months of April, May, June, July, August, and September. An average of 76.4% of the nitrate intersected with cells of the pollution vulnerability index over 100.

Íntimamente distantes: diferencia social en las intimidades del servicio doméstico

En este trabajo de investigación cualitativa exploro las formas en que la desigualdad social se proyecta en las intimidades del servicio doméstico. Me intereso por analizar las experiencias y trayectorias de vida de tres mujeres que trabajan como empleadas domésticas en Bogotá, en torno a las tensiones que implican las diferencias sociales entre patronos y empleadas. Por un lado, propongo considerar las experiencias de los procesos de violencias en las trayectorias de estas mujeres como aspectos que marcan de forma contundente la distancia social entre ellas y sus empleadores. Por otra parte, abordo discusiones analíticas en torno a las definiciones de intimidad para comprender las contradicciones, ambigüedades y ejercicios de poder que configuran diferentes situaciones de intimidad en estas relaciones de servicio doméstico. El argumento central de este texto sostiene que en el servicio doméstico se dan múltiples configuraciones de intimidad que están entretejidas por las diferentes formas en que se marcan las diferencias sociales entre las empleadas y los empleadores. Las relaciones de servicio doméstico difieren entre sí en función de las formas de acceder y transferir informaciones privadas entre las empleadas y los patrones, así como según los modos en que se establecen vínculos de confianza y afecto entre ellos. De igual manera, expongo cómo operan las intimidades ilícitas “compartidas” e “individuales” en el marco de la “intimidad pública” de los hogares para los que trabajan las empleadas domésticas.

Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1

Se describe la variante homocigota c.320-2A>G de TGM1 en dos hermanas con ictiosis congénita autosómica recesiva. El clonaje de los transcritos generados por esta variante permitió identificar tres mecanismos moleculares de splicing alternativos.