A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations

In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG), a polymerase chain reaction multiplex was optimized in order to type ten X-chromosome short tandem repeats (STRs) in a single reaction, including: DXS8378, DXS9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7133, GATA172D05, GATA31E08, and DXS7423. Using this X-decaplex, each 17 of the participating laboratories typed a population sample of approximately 200 unrelated individuals (100 males and 100 females). In this work, we report the allele frequencies for the ten X-STRs in 15 samples from Argentina (Buenos Aires, CA(3)rdoba, Rio Negro, Entre Rios, and Misiones), Brazil (SA o pound Paulo, Rio de Janeiro, Parana, and Mato Grosso do Sul), Colombia (Antioquia), Costa Rica, Portugal (Northern and Central regions), and Spain (Galicia and Cantabria). Gene diversities were calculated for the ten markers in each population and all values were above 56%. The average diversity per locus varied between 66%, for DXS7133, and 82%, for DXS6809. For this set of STRs, a high discrimination power was obtained in all populations, both in males (a parts per thousand yen1 in 5 A- 10(5)) and females (a parts per thousand yen1 in 3 A- 10(9)), as well as high mean exclusion chance in father/daughter duos (a parts per thousand yen99.953%) and in father/mother/daughter trios (a parts per thousand yen99.999%). Genetic distance analysis showed no significant differences between northern and central Portugal or between the two Spanish samples from Galicia and Cantabria. Inside Brazil, significant differences were found between Rio de Janeiro and the other three populations, as well as between SA o pound Paulo and Parana. For the five Argentinean samples, significant distances were only observed when comparing Misiones with Entre Rios and with Rio Negro, the only two samples that do not differ significantly from Costa Rica. Antioquia differed from all other samples, except the one from Rio Negro.

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family

A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter -> q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling. Copyright (C) 2012 S. Karger AG, Basel

Childbearing in adolescence: intergenerational dejà-vu? Evidence from a Brazilian birth cohort

Abstract Background Pregnancy in adolescence tends to repeat over generations. This event has been little studied in middle and low-income societies undergoing a rapid epidemiological transition. To assess this association it is important to adjust for socioeconomic conditions at different points in lifetime. Therefore, the aim of this study is to analyze the independent effect of adolescent childbearing in a generation on its recurrence in the subsequent generation, after adjusting for socioeconomic status at different points in life. Methods The study was conducted on a prospective cohort of singleton liveborn females from the city of Ribeirão Preto, Brazil, evaluated in 1978/79, and their daughters assessed in 2002/04. A total of 1059 mother-daughter pairs were evaluated. The women who had their first childbirth before 20 years of age were considered to be adolescent mothers. The risk of childbearing in adolescence for the daughter was modeled as a function of the occurrence of teenage childbearing in her mother, after adjustment for socio-demographic variables in a Poisson regression model. Results The rate of childbearing during adolescence was 31.4% in 1978/79 and 17.1% in 2002/04. Among the daughters of the 1st generation adolescent mothers, this rate was 26.7%, as opposed to 12.7% among the daughters of non adolescent mothers. After adjustments the risk of adolescent childbearing for the 2nd generation was 35% higher for women whose mothers had been pregnant during adolescence – RR = 1.35 (95% CI 1.04-1.74). Conclusion Adolescent childbearing in the 1st generation was a predictor of adolescent childbearing in the 2nd, regardless of socioeconomic factors determined at different points in lifetime.

Démter y Perséfone: mito y narrativa en la poesía de Michéle Roberts

[ES]Este trabajo estudia la obra poética que dedica la autora feminista y anglo-francesa Michèle Roberts al mito de Deméter y Perséfone. A través de seis poemas presentados correlativamente, Roberts recorre la historia mitológica de dos mujeres simbólicas para reescribir y reinterpretar distintas percepciones del mito que engloba a las heroínas. Pasado y presente se corresponden, así como las valoraciones de la alegoría ficticia y la cultura contemporánea. En los poemas de Roberts, las narrativas en primera y tercera persona se entrelazan para tratar diversos temas como la relación entre madre e hija, el matrimonio, el ataque sexual, la identidad de las protagonistas, el inconsciente, el nacimiento y la muerte.

Il rapporto madre-figlia nelle letterature femminili maghrebine (1980-2010)

La ricerca Il rapporto madre-figlia nelle letterature femminili maghrebine (1980-2010) comprende due sezioni: la prima analizza le principali caratteristiche del mondo maghrebino femminile e le peculiarità della scrittura dell’intellettuale nord-africana, la seconda è incentrata sull’analisi testuale dei romanzi maghrebini femminili più rappresentativi. Il lavoro di analisi verte sullo studio di varie autrici maghrebine che coprono un vasto ventaglio temporale: dal 1980 al 2010. Di ogni autrice vengono analizzati i romanzi in cui è possibile rinvenire la tematica oggetto della tesi: il rapporto madre-figlia. I romanzi studiati sono raggruppati secondo quattro macro direttrici tematiche: i romanzi in cui il rapporto filiale è caratterizzato dalla violenza; le opere in cui il rapporto madre-figlia è caratterizzato dall’assenza fisica della genitrice; i romanzi in cui il rapporto filiale è caratterizzato dall’incomprensione ed infine le produzioni in cui la relazionalità madre-figlia è caratterizzata da un rapporto di amore e sostegno reciproco.

Process evaluation of intervention program for prevention of early sexual activity and alcohol use among Hispanic teenagers

Hispanic teens are a high-risk population for initiation of early sexual activity and alcohol use which in turn has numerous social and health consequences. One strategy to address prevention of these behaviors is to implement a capacity building intervention that promotes parent child communication, encompasses their cultural values and community participation. This study describes the process evaluation of a pilot intervention program amongst Hispanic teens and their families living along the Texas-Mexico border. “Girls Lets Talk” is a small group intervention with 10-14 year old teens and their female adult family members that involves education regarding effects of alcohol use and sexual activity as well as activities for monitoring and refusal skills to prevent risky behaviors. Two waves of the program each consisting of at least seven mother daughter dyads were conducted. During the designing process, community advisory board meetings and focus groups were held to review course materials and ensure they were appropriate to the Mexican American culture. Parent and adolescent surveys were administered at the beginning and end of the intervention to assess for psychosocial outcome variables. All sessions received high mean satisfactory scores (mean of 4.00 or better on a five point scale) for both adult and adolescent participants. Qualitative feedback was obtained via debriefing sessions to evaluate experience as well as alter recruitment strategies. A Wilcoxon Sign Rank analysis of the pre and post intervention surveys was done that showed significant changes in some outcome variables such as intentions and confidence for monitoring behaviors for adults and beliefs regarding sexual activity. “Girls Lets Talk” is a promising example of how a process evaluation plan can help develop a theory based health promotion program using the community based participatory research approach. The intervention may also be effective in altering intentions and enhancing self-efficacy among parents and teens in order to decrease risky behaviors such as early sexual activity and alcohol use.^

The illness experiences of African Americans residing in an inner city community, Houston, Texas

This dissertation documents health and illness in the context of daily life circumstances and structural conditions faced by African American families living in Clover Heights (pseudonym), an inner city public housing project in the Third Ward, Houston, Texas. Drawing from Kleinman's (1980) model of culturally defined health care systems and using the holistic-content approach to narrative analysis (Lieblich, Tuval- Mashiach, & Zilber, 1998) the purpose of this research was to explore the ways in which social and health policy, economic mobility, the inner city environment, and cultural beliefs intertwined with African American families' health related ideas, behaviors, and practices. I recruited six families using a convenience sampling method (Schensul, Schensul, & LeCompte, 1999) and followed them for fourteen months (2010–2011). Family was defined as a household unit, or those living in the same residence, short or long-term. Single, African American women ranging in age from 29–80 years headed all families. All but one family included children or grandchildren 18 years of age and younger, or children or other relative 18 years of age and older. I also recruited six residents with who I became acquainted over the course of the project. I collected data using traditional ethnographic methods including participant-observation, archive review, field notes, mapping, free-listing, in-depth interviews, and life history interviews. ^ Doing ethnography afforded the families who participated in this project the freedom to construct their own experiences of health and illness. My role centered on listening to, learning from, and interpreting participants' narratives, exploring similarities and differences within and across families' experiences. As the research progressed, a pattern concerning diagnosis and pharmacotherapy for children's behavioral and emotional problems, particularly attention-deficit hyperactivity disorder (ADHD) and pediatric bipolar disorder (PBD), emerged from my formal interactions with participants and my informal interactions with residents. The findings presented in this dissertation document this pattern, focusing on how mothers and families interpreted, organized, and ascribed meaning to their experiences of ADHD and PBD. ^ In the first manuscript presented here, I documented three mothers' narrative constructions of a child's diagnosis with and pharmacotherapy for ADHD or PBD. Using Gergen's (1997) relational perspective I argued that mothers' knowledge and experiences of ADHD and PBD were not individually constructed, but were linguistically and discursively constituted through various social interactions and relationships, including family, spirituality and faith, community norms, and expert systems of knowledge. Mothers' narratives revealed the complexity of children's behavioral and emotional problems, the daily trials of living through these problems, how they coped with adversity and developed survival strategies, and how they interacted with various institutional authorities involved in evaluating, diagnosing, and encouraging pharmaceutical intervention for children's behavior. The findings highlight the ways in which mothers' social interactions and relationships introduced a scientific language and discourse for explaining children's behavior as mental illness, the discordances between expert systems of knowledge and mothers' understandings, and how discordances reflected mothers' ‘microsources of power’ for producing their own stories and experiences. ^ In the second manuscript presented here, I documented the ways in which structural factors, including gender, race/ethnicity, and socioeconomic status, coupled with a unique cultural and social standpoint (Collins, 1990/2009) influenced the strategies this group of African American mothers employed to understand and respond to ADHD or PBD. The most salient themes related to mother-child relationships coalesced around mothers' beliefs about the etiology of ADHD and PBD, ‘conceptualizing responsibility,’ and ‘protection-survival.’ The findings suggest that even though mothers' strategies varied, they were in pursuit of a common goal. Mothers' challenged the status quo, addressing children's behavioral and emotional problems in the ways that made the most sense to them, specifically protecting their children from further marginalization in society more so than believing these were the best options for their children.^

Kinetics of spindle pole body separation in budding yeast.

In the budding yeast Saccharomyces cerevisiae, the spindle pole body (SPB) serves as the microtubule-organizing center and is the functional analog of the centrosome of higher organisms. By expressing a fusion of a yeast SPB-associated protein to the Aequorea victoria green fluorescent protein, the movement of the SPBs in living yeast cells undergoing mitosis was observed by fluorescence microscopy. The ability to visualize SPBs in vivo has revealed previously unidentified mitotic events. During anaphase, the mitotic spindle has four sequential activities: alignment at the mother-daughter junction, fast elongation, translocation into the bud, and slow elongation. These results indicate that distinct forces act upon the spindle at different times during anaphase.

A primeira dança : o papel da intersubjectividade na interacção mãe-bebé

Tese de doutoramento, Psicologia (Psicologia Clínica), Universidade de Lisboa, Faculdade de Psicologia, 2016

Increase of a Caribbean leatherback turtle Dermochelys coriacea nesting population linked to long-term nest protection

The leatherback turtle Dermochelys coriacea is considered to be at serious risk of global extinction, despite ongoing conservation efforts. Intensive long-term monitoring of a leatherback nesting population on Sandy Point (St. Croix, US Virgin Islands) offers a unique opportunity to quantify basic population parameters and evaluate effectiveness of nesting beach conservation practices. We report a significant increase in the number of females nesting annually from ca. 18-30 in the 1980s to 186 in 2001, with a corresponding increase in annual hatchling production from ca. 2000 to over 49,000. We then analyzed resighting data from 1991 to 2001 with an open robust-design capture-mark-recapture model to estimate annual nester survival and adult abundance for this population. The expected annual survival probability was estimated at ca. 0.893 (95% CL 0.87-0.92) and the population was estimated to be increasing ca. 13% pa since the early 1990s. Taken together with DNA fingerprinting that identify mother-daughter relations, our findings suggest that the increase in the size of the nesting population since 1991 was probably due to an aggressive program of beach protection and egg relocation initiated more than 20 years ago. Beach protection and egg relocation provide a simple and effective conservation strategy for this Northern Caribbean nesting population as long as adult survival at sea remains relatively high. (c) 2005 Elsevier Ltd. All rights reserved.

A generational analysis of survival strategies of Southern rural Black women

This study examines cross-generational survival strategies, among Southern Rural Black women. Through their oral histories, the currents that run through the lives of five women will be examined from a Black female's perspective. While the experiences are richly different across four generations, these women have provided for their families despite the triple discrimination of being female, poor, and Black. Three important survival resources are identified: kin, education, and religion. The mothering role emerged as a master status with special emphasis on the mother-daughter relationship. ^

The representation of motherhood in contemporary Catalan fiction

This dissertation analyzes four twenty-first-century Catalan novels which present the complex positions occupied by mothers in the last seven decades. Its conceptual framework posits motherhood as both a changing social construction and a political institution in a constant state of flux. In Inma Monsó´s Todo un carácter (2001), Eva Piquer´s Una victoria diferente (2002), Carme Riera´s La mitad del alma (2004), and Najat El Hachmi´s El último patriarca (2008) motherhood is explored as a metaphorical act, a gender-constructing experience, as well as the locus of expression with regard to gender and power relations. During the dictatorship of Francisco Franco (1939–1975), the majority of women were excluded from public spaces, and forced to stay home to care for their husbands and children. Furthermore, the state criminalized abortion, made contraception and divorce illegal, and promoted an ideal of femininity based on silence, sacrifice, and self-denial. The political changes of the late 1970s allowed women greater personal autonomy, and many women writers began to challenge stereotypical views of women’s social roles. Yet in the 70s and 80s, the narratives of Esther Tusquets, Ana María Moix, and Montserrat Roig represent the mother as a repressive figure whom the daughter must reject in order to liberate herself and regain her voice. It is not until the 90s when the novelists Mercedes Abad, Maruja Torres, Carme Riera, Imma Monsó, Eva Piquer, and María Barbal rehumanize the mother figure, recovering their matrilineal heritage. However, far from suggesting a unified trend in representations of motherhood in Catalan fiction, the diverse points of view of the novels under discussion here reveal that differences in attitudes among women authors about mother-daughter conflict are far from resolved. The theoretical background for this dissertation draws mainly on the work of Adrienne Rich, Nancy Chodorow, and Julia Kristeva. It includes psychoanalytic studies as well as sociologically based essays by Anna López Puig, Amparo Acereda, Jacqueline Cruz, Barbara Zecchi, Ángeles de la Concha, and Raquel Osborne, among others.

Obesity and Overweight among Black American Adolescent Females: The Role of Social Influences in Everyday Dietary Practices

Obesity and overweight disproportionately impact Black American adolescent females—placing them at a lifetime of elevated physical health risks. Despite this burden, the literature that explores the contributors to obesity and overweight among Black American adolescent females remains limited and unclear. This dissertation aims to develop knowledge related to obesity and overweight in Black American adolescent females, by appraising the current understanding of factors that contribute to their obesity and overweight, and explicating the everyday social influences on dietary practices. The primary study conducted for this dissertation used a mixed method, multiple case study design to examine the mother, daughter, and other household contributors to Black American adolescent daughters’ everyday practices of food consumption, acquisition, preparation, and planning. Findings reveal the importance of understanding the complex and dynamic ways mothers and other household members contribute to a holistic view of everyday dietary practices among adolescent daughters. By deeply examining the nuanced ways the multiple cases varied, context-dependent knowledge essential to understanding the complicated health challenge of obesity was produced. Subsequently, recommendations are provided for health providers and scholars to more holistically approach and examine obesity—particularly among populations who are disproportionately affected.

Relations parents-enfant et fonctions exécutives des enfants à l’âge de l’entrée scolaire : l’importance des pères

De nombreuses études empiriques ont démontré que la qualité des relations parent-enfant est importante pour le développement des fonctions exécutives (FE) des enfants. Cependant, la majorité des études ont porté sur des échantillons de mères ou de pères, mais non des deux. Le présent mémoire contient un article empirique qui poursuit deux buts. Premièrement, l’article a examiné la contribution unique de la qualité des interactions mère-enfant et père-enfant avec leur bambin (toddler) à la prédiction des FE en milieu scolaire. Deuxièmement, l’article a investigué les effets d'interactions entre la qualité des relations mère-enfant et père-enfant. L’étude a été menée auprès de 46 familles intactes (mère-père-enfant). Lorsque les enfants avaient 18 mois, la qualité des interactions mère-enfant et père-enfant a été mesurée par observation de séquences indépendantes de jeu avec le Mutually Responsive Orientation scale. À la maternelle, les problèmes exécutifs des enfants furent rapportés par le professeur à l’aide du Behavior Rating Inventory of Executive Function. Les résultats indiquent que les enfants qui ont des interactions de meilleure qualité avec leur père à 18 mois sont ensuite considérés par leur professeur de maternelle comme ayant moins de déficits exécutifs. Cela suggère que la relation père-enfant peut être un facteur important à considérer en ce qui concerne le développement des FE des enfants. Les implications théoriques et empiriques ainsi que les implications pratiques, notamment celles concernant les professeurs, sont abordées lors de la conclusion de ce mémoire.