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Suplemento del número 16 de marcoELE (enero - junio de 2013) El presente trabajo analiza las creencias, actitudes y motivación para el estudio de ELE por parte de adolescentes sin conocimientos previos de español, en una pequeña comunidad siciliana en la que reside un nutrido grupo de emigrantes retornados de Venezuela. El objetivo es la obtención de una visión general sobre las creencias y actitudes hacia el español y el mundo hispánico, y de una estimación inicial sobre la demanda de español LE en la zona. Se trata de una investigación de tipo etnográfico-descriptivo para la que se ha utilizado una metodología cualitativa que incorpora técnicas descriptivas e instrumentos de la investigación por encuesta (entrevistas, elaboración y aplicación de un cuestionario), así como otros instrumentos propios de la investigación etnográfica. Los resultados han evidenciado que los encuestados muestran una actitud positiva hacia el español; creen que es una lengua fácil de aprender, ya que se asemeja al italiano y al siciliano, pero opinan que es un conocimiento poco útil en el mundo laboral. La orientación motivacional para aprender español es de tipo social-integrativo, pues les gustaría viajar a países de habla hispana y relacionarse con hablantes nativos. A pesar de los vínculos con la comunidad venezolana, los referentes culturales del mundo hispánico son adquiridos a través de los medios de comunicación o en sus viajes a España. Se concluye que estos adolescentes podrían estar interesados en cursos de español de orientación fuertemente comunicativa, centrada en el desarrollo de proyectos o de talleres.

A população urbana Chilena contemporânea deriva da mistura de ameríndios nativos com espanhóis, apresentando uma incidência média de fissura labial não sindrômica associada ou não a fissura palatina (NSCLP) de 1,8 por 1000 nascimentos vivos. A análise de segregação complexa usando o programa de computador POINTER foi feita em 249 pedigrees estendidos, distribuídos em 202 famílias simplex e 47 famílias multiplex obtidas de probands de NSCLP afetados (157 homens e 92 mulheres). Esses pedigrees deram origem a 326 indivíduos afetados e mais de 1454 parentes. Oito modelos hipotéticos foram examinados e comparados pelo teste c 2 log2 razão de máxima verossimilhança. Os modelos que postulam que NSCLP não era transmitida nestas famílias foram rejeitados, assim como os modelos que postulam apenas um componente multifatorial (P < 0,0001). O modelo que postula não haver componente poligênico para a transmissão não pôde ser rejeitado mas o modelo de não transmissão do efeito mais importante foi rejeitado (P < 0,0001). Entre os modelos do locus mais importante apenas o modelo recessivo de transmissão foi rejeitado, enquanto que as heranças codominante e dominante sem um componente multifatorial não puderam ser excluídas. O modelo não restrito sugere que a freqüência do alelo de suscetibilidade a NSCLP no locus mais importante é 0,0037 e sua penetrância é de 92%.

Introduction: Children, adolescent, and young adult cancer survivors experience overall increased risks of infertility that are preventable through effective fertility preservation services prior to starting cancer treatment. Oncofertility care is the evidence-based practice of informing newly diagnosed cancer patients about their reproductive risks and supporting shared decision-making on fertility preservation services. Despite longstanding clinical guidelines, oncofertility care delivery continues to be limited and highly variable across adult and pediatric oncology settings., Materials and Methods: We describe the design of a stepped wedge cluster randomized clinical trial to evaluate the effectiveness of the multi-component Telehealth Oncofertility Care (TOC) intervention conducted in 20 adult and pediatric oncology clinics across three health systems in Southern California. Intervention components are: 1) electronic health record-based oncofertility needs screen and referral pathway to a virtual oncofertility hub; 2) telehealth oncofertility counseling through the hub; and 3) telehealth oncofertility financial navigation through the hub. We hypothesize the intervention condition will be associated with increased proportions of patients who engage in goal-concordant oncofertility care (i.e., engagement in reproductive risk counseling and fertility preservation services that meet the patient's fertility goals) and improved patient-reported outcomes, compared to the usual care control condition. We will also evaluate intervention implementation in a mixed-methods study guided by implementation science frameworks., Discussion: Our overall goal is to speed implementation of a scalable oncofertility care intervention at cancer diagnosis for children, adolescent and young adult cancer patients to improve their future fertility and quality of life., Trial Registration: Clinicaltrials.gov Identifier: NCT05443737., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Background: The 10-week Nuevo Amanecer-II intervention, tested through a randomized controlled trial, reduced anxiety and improved stress management skills among Spanish-speaking Latina breast cancer survivors. This paper describes the implementation and equity evaluation outcomes of the Nuevo Amanecer-II intervention delivered in three California rural communities., Methods: Using implementation and equity frameworks, concurrent convergent mixed methods were applied to evaluate implementation (feasibility, fidelity, acceptability, adoption, appropriateness, and sustainability) and equity (shared power and capacity building) outcomes. Quantitative data were collected using tracking forms, fidelity rating forms, and program evaluation surveys; qualitative data were collected using semi-structured in-depth interviews. Respondents included community-based organization (CBO) administrators, recruiters, compañeras (interventionists), and program participants., Results: Of 76 women randomized to the intervention, 65 (86%) completed at least 7 of 10 sessions. Participants' knowledge (85% correct of 7 questions) and skills mastery were high (85% able to correctly perform 14 skills). Mean fidelity ratings across compañeras ranged from 3.8 (modeled skills) to 5.0 (used supportive/caring communication); 1-5 scale. The program was rated as very good/excellent by 90% of participants. Participants and compañeras suggested including family members; compañeras suggested expanding content on managing thoughts and mood and healthy living and having access to participant's survivorship care plan to tailor breast cancer information. CBOs adopted the program because it aligned with their priority populations and mission. Building on CBOs' knowledge, resources, and infrastructure, implementation success was due to shared power, learning, responsibility, and co-ownership, resulting in a co-created tailored program for community and organizational contexts. Building intervention capacity prior to implementation, providing funding, and ongoing technical support to CBOs were vital for fidelity and enhancement of recruiter and compañera professional skills. Two of three CBOs created plans for program sustainability beyond the clinical trial; all administrators discussed the need for new funding sources to sustain the program as delivered., Conclusions: Building on community assets and using equitable participatory research processes were central to the successful implementation of a peer-delivered psychosocial intervention in three rural communities among Spanish-speaking Latinas with breast cancer., (© 2023. The Author(s).)

Introduction: From diagnosis to post-treatment, many young breast cancer survivors (YBCS) experience infertility, limited contraception choices, concern about pregnancy safety, and menopausal symptoms. Clinical guidelines recommend oncofertility care (counseling and/or clinical services that meet fertility, contraception, pregnancy health and/or menopausal symptom management needs) throughout the cancer care continuum. However, significant oncofertility care gaps exist in rural, community oncology settings., Materials and Methods: We describe the design of an interrupted time series, effectiveness-implementation hybrid clinical trial that evaluates a multi-component intervention to improve YBCS engagement in oncofertility care. The intervention is comprised of 1) oncology clinic-based oncofertility needs screen; 2) a women's health survivorship care plan in Spanish and English; 3) remote patient navigation; and 4) telehealth oncofertility consultation. During the pre-intervention period (12 months), usual care will be delivered. During the intervention period (15 months), the multi-component intervention will be implemented at two rural oncology clinics with largely Latina, Spanish-speaking populations. The primary outcome of YBCS (n = 135) engagement in oncofertility care will be collected from medical record review. We will also collect validated patient-reported outcomes. Informed by the Exploration Preparation Implementation Sustainment (EPIS) implementation science framework, we will integrate qualitative and quantitative data to explore whether and how the intervention was effective, acceptable, appropriate, and delivered with fidelity., Discussion: Our overall goal is to speed implementation of a scalable oncofertility care intervention for YBCS in underserved areas to reduce disparities and improve reproductive health and quality of life., Trial Registration: Clinicaltrials.gov Identifier: NCT05414812., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Carbene transfer biocatalysis has evolved from basic science to an area with vast potential for the development of new industrial processes. In this study, we show that YfeX, naturally a peroxidase, has great potential for the development of new carbene transferases, due to its high intrinsic reactivity, especially for the N-H insertion reaction of aromatic and aliphatic primary and secondary amines. YfeX shows high stability against organic solvents (methanol and DMSO), greatly improving turnover of hydrophobic substrates. Interestingly, in styrene cyclopropanation, WT YfeX naturally shows high enantioselectivity, generating the trans product with 87 % selectivity for the (R,R) enantiomer. WT YfeX also catalyzes the Si-H insertion efficiently. Steric effects in the active site were further explored using the R232A variant. Quantum Mechanics/Molecular Mechanics (QM/MM) calculations reveal details on the mechanism of Si-H insertion. YfeX, and potentially other peroxidases, are exciting new targets for the development of improved carbene transferases., (© 2022 The Authors. Chemistry - A European Journal published by Wiley-VCH GmbH.)

Objective: Hispanic/Latinos living in rural areas have limited healthcare resources, including palliative and hospice care. Moreover, little is known about advance care planning (ACP) among Hispanic/Latino cancer patients in rural areas. This study explores facilitators and barriers for ACP. It elicits suggestions to promote ACP among rural Hispanic/Latino cancer patients in a US/Mexico border region., Methods: Hispanic/Latino cancer patients ( n = 30) were recruited from a nonprofit cancer organization. Data were collected via in-person interviews. Interviews were transcribed and translated from Spanish to English. Data were uploaded into NVivo 12 and analyzed using thematic analysis., Results: A common theme for facilitators and barriers for ACP was safeguarding family. Additional facilitators included (1) Desire for honoring end-of-life (EoL) care wishes and (2) experience with EoL care decision making. Additional barriers include (1) Family's reluctance to participate in EoL communication and (2) Patient-clinicians' lack of EoL communication. Practice suggestions include (1) Death education and support for family, (2) ACP education, and (3) Dialogue vs. documentation., Significance of Results: ACP functions not only as a decisional tool; its utility reflects complex dynamics in personal, social, and cultural domains. ACP approaches with this underserved population must consider family relationships as well as cultural implications, including language barriers.

Background: An often heard and justifiable concern of ethnic minorities is related to researchers' lack of attention to sharing the results of a study with participants after the study has concluded. Few studies have examined the effects of returning overall study results on participants' attitudes, especially among populations underrepresented in research. Among Latina research participants, providing a summary of study results could enhance participation in research. We assess Latina breast cancer survivors' reactions to receiving study results and their attitudes about participating in future studies., Methods: For this cross-sectional survey study, all women who had participated in two behavioral randomized controlled trials (RCTs) were mailed a letter summarizing the study results (using written and graphic formats) and a questionnaire assessing problems and understanding the results, importance of sharing results, willingness to participate in future studies, and format preferences for receiving the results. A postage-paid envelope for returning the completed questionnaire was included. Logistic regression examined the associations of age, education, and rural/urban residence on format preferences and willingness to participate. The survey sample consisted of 304 low-income, predominantly Spanish-speaking Latina breast cancer survivors (151 from urban and 153 from rural communities) who had participated in two RCTs testing a stress management program designed for Latina breast cancer survivors., Results: Ninety-two women returned the questionnaires (30.3%). Most of the women (91.1%) indicated that they had no trouble understanding the results of the study, and 97% agreed that it is very/extremely important for researchers to share the study result with the participants. The majority (60.2%) reported that receiving the results increased their willingness to participate in future studies. About half (51.7%) did not have a format preference, 37.4% preferred written summaries, and 10.9% preferred graphs., Conclusions: This study is an important first step to understanding the impact of returning study results among a population that is underrepresented in research. Returning the results of studies and understanding the impact of doing so is consistent with maintaining community involvement in all phases of research. The findings suggest that sharing aggregate research results in simple language yields few problems in participants' understanding of the results and is viewed as important by participants., Trial Registration: ClinicalTrials.gov NCT02931552 Date registered: October 13, 2016 and NCT01383174 Date registered: June 28, 2011., (© 2022. The Author(s).)

Objective: To evaluate the safety and tolerability of an oral herbal supplement containing glucosinolates, phytosterols, and citrus flavonoids (Warmi®, Lima Perú;) in otherwise healthy adult women., Methods: This was a phase-I, randomized parallel three arms, double-blinded, and a placebo-controlled clinical trial. A total of 55 participants aged 18-40 were randomly assigned to one of three groups to receive for three months: (1) an oral herbal supplement of 1650 mg/day; (2) an oral herbal supplement of 3300 mg/day; or (3) an oral placebo 3300 mg/day. The primary endpoints were oral safety and tolerability of the supplement. The secondary endpoint was its effect on vital functions, anthropometrics, and laboratory tests. We used an exploratory approach by covariance analysis (ANCOVA) adjusted for the variables' baseline value for the secondary outcomes., Results: All women completed three months of follow-up, reporting no side effects. Our exploratory analysis revealed that treatment with the herbal supplement of 1650 mg/day was associated with increased glucose and uric acid levels. In comparison, the herbal supplement 3300 mg/day was associated with reduced breathing rate, increased basal temperature, and systolic blood pressure, both compared to the placebo group. However, despite significant differences, none of these was clinically significant., Conclusion: The oral herbal supplement had a favorable safety and tolerability profile in studied women. There is a need to study its potential as an option to treat menopausal symptoms.

Rural US Latina breast cancer patients experience language barriers, health literacy issues, and limited access to health care resources that negatively impact survivorship care. This study explored the challenges to survivorship care for rural Latina breast cancer (BC) patients and approaches to supporting survivorship care plans (SCP) from the stakeholders' perspectives. Data were collected via eight focus groups (n = 40) and individual interviews (n = 4) with Latina BC patients, family caregivers, and health care professionals in a rural US-Mexico Border region. Interviews were audio-taped, transcribed, translated, and analyzed using thematic analysis. Themes related to the patient's SCP challenges included: (1) lack of knowledge of treatment information, (2) lack of proactive health behavior, (3) gaps in information for care coordination, (4) psychological distress, and (5) difficulty retaining health information. Respondents expressed that the SCP document could fill patient information gaps as well as support patient communication with their clinicians and family. Rural BC patients demonstrated an acute need for information and active engagement in their survivorship care. The findings indicate the importance of addressing challenges for survivorship care on multiple dimensions: Cognitive, behavioral, social, and structural. Developing a culturally tailored SCP intervention will be imperative to support survivorship care.

Background: The preferences of citizens are a basic element to incorporate into the decision-making process when planning health policies. Contingent valuation (CV) is a common method for calculating the value for citizens that new technologies, interventions, and the provision of services or policies have. However, choosing the correct CV tool may not be a neutral decision. This work aims to assess the substitution of a healthcare service by comparing valuation differences between the willingness to pay (WTP) for the maintenance of the service versus the willingness to accept compensation (WTA) for its substitution, both of which are related to subject characteristics, with a particular focus on trust in institutions and risk aversion., Methods: A CV study was designed to study Dutch population preferences when physician assistants replace anaesthesiologists. Differences between the distributions of WTA and WTP were compared through full decomposition methods, and conditional quantile regression was performed., Results: Nearly two-thirds of surveyed citizens expressed null values for WTA and WTP. The other third systematically reported a value of WTA higher than that of WTP, which increased further with lower income and the possible presence of a strategic bias. In contrast, being more than 65 years old, having trust in government, and preferring anaesthesiologists decreased the WTA-WTP difference. Risk aversion had no clear association with the WTA-WTP gap., Conclusions: Known differences between the perceived value of health services from the perspective of gains and losses could be related to people's characteristics. Trust in government but not aversion to risk was related to the WTA-WTP differences. Identifying a profile of citizens who are averse to losing health services should be considered when designing and implementing health services or interventions or making disinvestment decisions.

Objective: We report results of a community-based multisite, randomized controlled trial of Nuevo Amanecer (NA-II), a 10-week stress management program for rural, low literacy Latina breast cancer survivors., Methods: Trained peers delivered NA-II to Spanish-speaking Latinas with non-metastatic breast cancer in three rural communities. Women were randomized to receive the program immediately or wait 6 months. Assessments were conducted at baseline, 3 months, and 6 months. Primary outcomes were breast cancer-specific quality of life domains; secondary outcomes included general distress symptoms and stress management skills. Intention-to-treat analyses using repeated-measures linear regression models estimated changes in slope between groups., Results: Of 153 participants (76 randomized to intervention, 77 to control group), 92% were retained at 6 months. Mean age was 54.8 years (SD = 10.5); 80% had less than high school education. There were no statistically significant treatment × time effects on quality of life. Compared to women in the control group, intervention group women reported greater improvements in anxiety at 6 months (-0.20 vs -0.02, P = .049; range 0-4) as well as three stress management skills: relaxation at 3 months (+0.98 vs -0.07, P < .0001; range 0-4) and 6 months (+0.82 vs +0.04, P < .001), awareness of tension at 3 months (+0.31 vs -0.19, P < .01; range 0-4) and 6 months (+0.29 vs -0.11, P < .05), and coping confidence at 3 months (+0.12 vs -0.23, P < .01; range 0-4)., Conclusions: Stress management programs delivered by trained peers in rural community settings can reduce anxiety and improve stress management skills among Latina breast cancer survivors., (Published 2020. This article is a U.S. Government work and is in the public domain in the USA.)

Objective: Coping with cancer is central to patients' cancer recovery and quality of life, yet little is known about cancer experiences and coping from the perspective of binational cancer patients. This brief report provides an exploration of experiences relating to cancer diagnosis/treatment and coping among Latino cancer patients living in the U.S.-Mexico border region Design: We conducted secondary data analysis of qualitative data Participants and methods: We conducted in-depth of interviews with 22 patients from a rural cancer care organization. Thematic analysis was used to analyze the data. Findings: Three themes emerged: 1) changes in sexual functioning, 2) navigating cancer in the U.S. and between Mexican border communities, and 3) social support. Conclusion: Rural Latino cancer patients face multiple challenges in accessing cancer treatments. Social support fills the gaps for their continuum of care. Implication: Promoting culturally-relevant coping and resilience in clinical practice.

Objectives: Adapt a cognitive-behavioral stress management program (Nuevo Amanecer or NA) to be generalizable to rural, low literacy Spanish-speaking Latinas with breast cancer survivors at all phases of survivorship., Methods: Apply the Transcreation Framework, a community-engaged translational model, to develop the adapted program (Nuevo Amanecer or NA-II), design a randomized controlled trial for community settings, identify recruiters and interventionists, and recruit participants into the trial., Results: Adaptations included expanding the program from eight to ten weeks, simplifying materials, and increasing skills practice. We added stress management videos, healthy lifestyles information, and survivorship information. Interventionists were trained Latina breast cancer survivors. All core components of NA were retained in NA-II including managing the impact of cancer, information on breast cancer and its treatment, finding cancer information, getting support, managing thoughts, stress management techniques, and setting goals. Participants receive a program manual. Each session includes a review of that week's content using the manual, practicing a stress-management skill, setting a specific goal, and reviewing videos. Spanish-speaking Latinas with non-metastatic breast cancer were recruited by community recruiters. Of 231 women approached, 24% refused, 10% were ineligible, and 153 (66%) were randomized to the intervention or a wait-list control group. The sample was vulnerable: 69% had < high school education, more than half had only Medicaid or no insurance, 91% was foreign born, and 48% reported financial hardship in the past year., Conclusions: Applying the Transcreation Framework to engage stakeholders in designing community-based RCTs enhanced congruence with community contexts and recruitment of this vulnerable population., Competing Interests: The authors have declared that no competing interests exist.

Purpose: Experiencing childhood abuse (CA) or intimate partner violence (IPV) has been linked to adverse pregnancy outcomes. We examined whether CA history and current IPV are independently and jointly associated with placental abruption (PA)., Methods: We recruited 662 PA cases and 665 controls in Lima, Peru. We used multivariate logistic regression to calculate odds ratios (OR), adjusting for age, education, and parity., Results: Approximately 42% of cases and controls reported CA; 50% of cases and 49% of controls reported IPV. History of any CA was not associated with PA, but history of severe CA was associated with 38% increased odds of PA (adjusted OR [aOR], 1.38; 95% confidence interval (CI), 1.07-1.80), adjusting for IPV. There was a statistically nonsignificant association between severe IPV and odds of PA (aOR, 1.22; 95% CI, 0.92-1.62), adjusting for CA. Women who experienced severe CA and severe IPV had 2.06-fold (95% CI, 1.25-3.40) increased odds of PA compared with women who did not experience severe abuse. The joint effect of CA and IPV was positive but statistically nonsignificant on the multiplicative (aOR, 1.48; 95% CI, 0.79-2.80) and additive scale (relative excess risk due to interaction, 0.70; 95% CI, -0.39 to 1.78)., Conclusions: Preventing exposure to violence may improve maternal outcomes., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Access to quality cancer care for cancer patients living in the rural U.S.-Mexico border region is complex due to common binational health care-seeking behaviors and regional socio-economic and cultural characteristics. But little is known about the challenges border dwelling residents face when navigating their cancer care systems. In-depth interviews were conducted with 22 cancer patients in Southern California. Thematic analysis was applied to identify patterns of meaning in the data. Emerging themes were: (1) delays in cancer care coordination: (a) poor coordination of cancer care (b) U.S. and cross-border discordance in cancer diagnosis; (2) regional shortage of cancer specialists; and (3) financial hardship. Findings revealed that care needs distinctly involved care coordination in/outside of the patient's community and bi-national care coordination. In addition to local solutions to improve cancer coordination through community-based partnerships, efforts to bridge care in a two-nation context are also imperative.

Quality of clinician-patient cancer communication is vital to cancer care and survivorship. Racial/ethnic minority patients in rural regions may have unique characteristics including cultural beliefs, language barriers, and low health literacy which require effective cross-cultural cancer communication. Despite the growing US population of racial/ethnic minorities and widespread emphasis on culturally appropriate health communication, little is known about challenges and facilitators of cancer communication among underserved rural Latino cancer patients in the US-Mexico border region. This study conducted secondary data analysis of interview data collected from 22 individual cancer patients living on the US side of the US-Mexico border. Thematic analysis was conducted to explore a priori questions regarding patient experiences with cancer care communication with their providers. Emerging themes included lack of language concordance, patient perspectives on clarity and accuracy of information provided, patient perceptions on provider sensitivity in giving cancer diagnosis, and improving the clinical interpersonal relationship. Practice guidelines are suggested and discussed. These findings illuminate the importance of advancing improvement of cancer communication between clinicians and Spanish language-dominant Latinos.

Rationale and Objectives: Economic theory classifies an intervention as socially beneficial if the total Willingness to Pay (WTP) of those who gain exceeds the total Willingness to accept (WTA) of those who are harmed. This paper examines the differences in health system users' valuation of a health care service in primary care setting based on the WTP and WTA perspectives, discussing the impact of personal and service variables, including risk attitudes, on these disparities., Method: Six hundred and sixty two subjects who asked for care in health centres in the Region of Madrid (Spain) were interviewed, using the contingent valuation method to estimate WTP and WTA. Patient sociodemographic characteristics, health needs, satisfaction with the service and risk attitude and behaviour under risk (measured by self-reported scales and lottery games respectively) were collected. Generalised Linear Models were used to estimate the association between the explanatory variables and the WTA/WTP ratio., Results: We obtained the WTA/WTP ratio for 570 subjects (mean 1.66 CI 95%: 1.53-1.79; median 1, interquartile range 1-2). People with higher education or in high social groups expressed WTA values closest to WTP. The opposite occurred in patients with the greatest health needs or who were born abroad. Self-reported expression of risk aversion appeared also related to increases in the WTA/WTP ratio. Satisfaction with the service evaluated was the most influential factor in the WTA/WTP ratio., Conclusion: Health need, difficulty in obtaining substitutes and satisfaction with the service could serve for profiling people averse to loss for health care services in primary care setting. Self-reported expression of risk aversion could also be related to increases in the WTA/WTP ratio. This would mean that these characteristics should be taken into account both in the design and implementation of new healthcare interventions, as in the making decision for disinvestment.

Patient navigation is a widely used approach to minimize health disparities among socioeconomically marginalized cancer patients. Although patient navigation is widely used, there is a dearth of studies exploring patient experience with navigators among rural cancer patients. This qualitative study explores the challenges and barriers to cancer care faced by cancer patients living in a US/Mexico border region in Southern California. We individually interviewed 22 cancer patients, most of whom were Latino. Data were analyzed using constant comparison with a reiterative analysis method. The main themes relating to barriers to care and experiences with patient navigators include the following: (1) removing financial barriers, (2) coordinating services, and (3) providing therapeutic interventions. The cancer patients highly valued the navigators for their knowledge about community resources, support, and advocacy. This study suggests that it is imperative that navigators know the regional and binational health care utilization issues that impact patients' access to cancer care.

Background: Lesions in the Guillain-Mollaret triangle or dentate-rubro-olivary pathway may lead to hypertrophic olivary degeneration (HOD), a secondary trans-synaptic degeneration of the inferior olivary nucleus. HOD is usually associated with palatal tremor and rarely with Holmes tremor. Bilateral HOD is a very unusual condition and very few cases are reported., Case Report: We report here two cases of bilateral HOD after two different vascular lesions located at the decussation of superior cerebellar peduncles, thus impairing both central tegmental tracts and interrupting bilaterally the dentate-rubral-olivary pathway. Interestingly, both developed bilateral Holmes tremor but not palatal tremor., Discussion: Lesions in some of the components in the Guillain-Mollaret triangle may develop Holmes tremor with HOD and without palatal tremor. Magnetic resonance imaging is an invaluable tool in these cases. Better understanding of the pathways in this loop is needed.

Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, we use molecular genetic techniques to investigate an admixed isolated founder population from the Robinson Crusoe Island (Chile), who are affected by a high incidence of SLI, increasing the power to discover contributory genetic factors. We utilize exome sequencing in selected individuals from this population to identify eight coding variants that are of putative significance. We then apply association analyses across the wider population to highlight a single rare coding variant (rs144169475, Minor Allele Frequency of 4.1% in admixed South American populations) in the NFXL1 gene that confers a nonsynonymous change (N150K) and is significantly associated with language impairment in the Robinson Crusoe population (p = 2.04 × 10-4, 8 variants tested). Subsequent sequencing of NFXL1 in 117 UK SLI cases identified four individuals with heterozygous variants predicted to be of functional consequence. We conclude that coding variants within NFXL1 confer an increased risk of SLI within a complex genetic model.

The population of Robinson Crusoe Island is estimated at 633 inhabitants. The current population has a common origin from the first eight families who colonized the island at the end of the 19th century. The objective of this study was to determine the rates of consanguinity, the average coefficients of inbreeding, the types of consanguineous marriages and the inbreeding evolution between 1900 and 2000 on the island. All marriages registered on the island, from the last colonization until 2000 (417 in total), were included in the analysis. In addition, extended genealogies were obtained. The consanguinity rate was 14.9% and the average coefficient of inbreeding (α) 54.05 × 10(-4). The most frequent type of consanguineous marriages was between second cousins, followed by first cousins. The average value of the first/second cousin ratio was 1.11. The population of Robinson Crusoe Island has a high rate of inbreeding. The unique characteristic of the island - its small current population, originating from just a few families, with small rate of gene flow - could explain the observed high and increasing consanguinity.

The purpose of this study was to identify and describe the domains that define a good death from the perspectives of healthy Mexican American older adults. Qualitative data from face-to-face interviews with 18 participants residing in Southern California were analyzed. Five categories regarding the concepts of good and bad death include no suffering, living life with faith, having time for closure with family, dying at home, and a natural death. Understanding the meaning of good and bad death within specific cultural contexts is integral to promoting cultural sensitivity when working with older adults, especially in end-of-life care.

Specific language impairment (SLI) is an unexpected deficit in the acquisition of language skills and affects between 5 and 8% of pre-school children. Despite its prevalence and high heritability, our understanding of the aetiology of this disorder is only emerging. In this paper, we apply genome-wide techniques to investigate an isolated Chilean population who exhibit an increased frequency of SLI. Loss of heterozygosity (LOH) mapping and parametric and non-parametric linkage analyses indicate that complex genetic factors are likely to underlie susceptibility to SLI in this population. Across all analyses performed, the most consistently implicated locus was on chromosome 7q. This locus achieved highly significant linkage under all three non-parametric models (max NPL = 6.73, P = 4.0 × 10(-11)). In addition, it yielded a HLOD of 1.24 in the recessive parametric linkage analyses and contained a segment that was homozygous in two affected individuals. Further, investigation of this region identified a two-SNP haplotype that occurs at an increased frequency in language-impaired individuals (P = 0.008). We hypothesise that the linkage regions identified here, in particular that on chromosome 7, may contain variants that underlie the high prevalence of SLI observed in this isolated population and may be of relevance to other populations affected by language impairments.

Specific language impairment (SLI) is a developmental language disorder that occurs for no known reason. The disorder affects 2-8% of children. Some scientific evidence suggests that genetic factors are implicated in the etiology of SLI. The disorder is genetically complex. Two novel loci, SLI1 on chromosome 16q24 (MIM 606711) and SLI2 on chromosome 19q13 (MIM 606712), have been found to be highly correlated with SLI. Four genes have been identified as susceptibility genes. SLI occurs at an unusually elevated incidence (35%) among the population of Robinson Crusoe Island (Chile), which also has a high consanguinity rate. This finding supports the influence of genetic mechanisms in the transmission of SLI based on a founder effect. To investigate further the genetic involvement in this population, we collected blood samples from 115 islanders from 13 families with a language-impaired proband and from 18 families with a normal-language proband. The analysis of micro satellite marker D16S515, located in locus SLI1, demonstrated that the 230-bp allele was correlated with SLI and that the 232-bp allele was correlated with normal language development. The domain containing the D16S515 marker, therefore, may play a role in language development.

Background: Specific language impairment (SLI) occurs in 2% to 8% of preschool children. Major and candidate genes are probably involved. Genetic drift is a cause for the presence of high frequencies of deleterious alíeles of a specific disease and the founder effect is one of its forms. Robinson Crusoe Island has 633 inhabitants and its actual population began with 8 families that repopulated the island at the end of XIXth century., Aim: To assess the frequency of specific language impairment among children living in Robinson Crusoe Island., Material and Methods: All 66 children aged between 3 and 9 years living in the island, were studied. Parents were interviewed and in children, non verbal intelligence, audiometric parameters, comprehension and expression of oral language were assessed. Extended genealogies were also performed., Results: Forty children had at least one parent that was descending of founder families. Among these, 35% had SLI. Eighth five percent of SLI affected children came from the same colonizer family., Conclusions: The prevalence of SLI in Robinson Crusoe Island is higher than that reported in mainland Chile and abroad. This high prevalence, associated to a high frequency of consanguinity, supports the influence of genetic mechanisms in SLI transmission, based on a founder effect.

Background: Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with the characteristics of a complex genetic trait. Based on experimental evidences as well as on association and linkage studies candidate genes TGFA, RARA and BCL3 have been postulated as being involved in the genetic etiology of this pathology., Aim: To test the possible association due to linkage disequilibrium between microsatellite markers located at less than 1cM from the three candidate genes and nonsyndromic cleft lip/palate using the case-parents trio design., Patients and Methods: The sample consisted of 58 case-parents trios. Two microsatellite markers, flanking each one of the candidate genes were analyzed by means of the polymerase chain reaction (PCR) with fluorescent labeled microsatellite markers. Electrophoresis of the PCR products was performed on a laser-fluorescent automatic DNA sequencer. Nonparametric ETDT was used to analyze the genotype data., Results: Significant linkage disequilibrium was detected between D2S443 (TGFA) and NSCLP. Significance was almost reached between D17S800 (RARA) and NSCLP. Alleles 239bp (D2S443) and 172bp (D17S800) showed significant preferential transmission from heterozygous parents to affected offspring. In the case of BCL3 both markers showed no significant results., Conclusions: The results of the present study do not show clear evidence that TGFA or RARA could be involved in the genetic etiology of NSCLP. Even though the importance of retinoic acid in the development of the embryo is well documented the results obtained for RARA are difficult to analyze. In relation to the possible role of BCL3 in NSCLP, recent information postulates that other genes located in the same chromosome region could be involved in NSCLP.

Objective: Nonsyndromic cleft lip/palate (NSCLP) has the characteristics of a complex genetic trait. Linkage and association studies have suggested that one or more clefting loci may be located on chromosome 4q. The goal of this study was to evaluate the possible linkage and association due to linkage disequilibrium between five microsatellite markers located on 4q28 to 4q33 and NSCLP, using the case-parent trio design., Subjects and Methods: A total of 56 Chilean families (32 simplex and 24 multiplex) were recruited. Microsatellite markers were analyzed using polymerase chain reaction with fluorescent-labeled forward primers, followed by electrophoresis on a laser-fluorescent sequencer. Case-parents trios were ascertained to assess linkage and linkage disequilibrium through a multistage procedure. Transmission disequilibrium tests for multiple alleles were carried out to assess the statistical significance of 4q28 to 4q33 microsatellite markers., Results: Only weak evidence for linkage was obtained for the FGA marker (asymptotic uncorrected p value = .08 and empirical p value = .05). Only the FGA and UCP1 markers were selected for association analysis in trios, with unrelated cases achieving a nearly significant result for the UCP1 marker (asymptotic uncorrected p value = .07 and empirical p value = .19)., Conclusion: Though the FGA and UCP1 markers showed nearly significant p values for linkage and association, respectively, the results of the present study provided insufficient evidence of the existence of a major susceptibility locus in the 4q region that was analyzed in the present study.

Prior studies have implicated an involvement of the Msx1 homeobox gene in cleft palate in mice and its homolog in humans (called MSX1 in the HOX7 gene, located on chromosome 4). In this study we present evidence of a sex-dependent association between MSX1 and non-syndromic cleft lip/palate (NSCLP) in the Chilean population. The sample included 73 NSCLP cases, 37 from multiplex families (Mx), 36 from simplex families (Sx), and 87 controls. Polymerase chain reaction amplification of the MSX1 intragenic microsatellite (CA)n-sequence shows significant (p = 0.035) differences in the allele frequencies between NSCLP-Mx males and control males. These differences are mainly due to frequency differences in allele *2 (173 base pairs) among cases (21.9%) and controls (13.2%). When the NSCLP cases are subdivided by sex and positive family history (Mx versus Sx), the Mx males (27.8%) as well as the total NSCLP-Mx cases (25.7%) showed significantly higher frequencies of allele *2, compared to controls (11.4% and 13.2%, respectively). Analysis of the genotype data indicates that the relative risk for NSCLP is greater for persons carrying allele *2 (i.e., odds ratio [OR] larger than 1), reaching significance for all Mx cases (OR = 2.67; 95% confidence interval [CI], 1.10 to 6.52) and even more pronounced for Mx males (OR = 3.33; 95% CI, 1.08 to 10.32). Taken together, these findings support the hypothesis that the genetic variation at the MSX1 locus is a predisposing gene involved in sex-dependent susceptibility to clefting and that it also differentiates simplex from multiplex families.

Race and ethnicity influence the form of the human craniofacial complex in varying ways. The aim of the present investigation was to quantify the effects of ethnicity (mestizos, Aymara, non-Aymara), age (adolescents and adults), and sex on the form (size and shape) of the hard palate in normal Native American individuals. From the dental casts of 51 individuals with a complete permanent dentition, the x, y, and z coordinates of several standardized palatal landmarks were obtained with a computerized 3-dimensional digitizer. Palatal landmarks were used to derive a mathematical equation for palatal shape in the frontal and sagittal planes. Palatal width and length, frontal and sagittal heights, sagittal slope, and deviation of the raphe from the midline were also calculated. In the Aymara subjects, there was no effect of sex on palatal size, but there was an effect on palatal shape independent of size, especially with respect to male growth. Indeed, female palates apparently did not change their shape between adolescence and adulthood, while male palates increased their posterior "height." Overall, the 3 ethnic groups appeared to possess similar palatal size, with small significant differences. In the adult individuals, ethnicity did not seem to influence palatal shape. In contrast, adolescent males showed differences: non-Aymara subjects had the "highest" palatal shape, Aymara the "lowest," and mestizos an intermediate position. In conclusion, ethnicity does not seem to be a factor of major variability of human hard palate morphology, at least in the present 3 northern Chilean groups, as already found for dental arch shape. Age probably has a larger effect, particularly in the posterior part of the palate, where the eruption of the second and third molars between adolescence and young adulthood may play a role. A further development of the present investigation may involve larger samples of individuals from different ethnic groups.

Background: The presence of major genes in the susceptibility of non syndromic cleft lip with or without cleft palate (CL/P) in Chile has been postulated, considering the high prevalence and familial aggregation of this condition., Aim: To study the familial recurrence of CL/P in Chile., Patients and Methods: The recurrence risk of CL/P was studied in 217 extended pedigrees where 33 (15.2%) were multiplex (21 male and 12 female propositi). These multiplex extended pedigrees (with more than one affected individual) represented 75 nuclear pedigrees, constituted by 840 males and 803 females and are the basic information of this study., Results: A significantly higher frequency of affected males (4.15%) than affected females (2.27%) was observed, independent of the difference in number of propositi by sex. Even though no differences were observed between families where both parents were unaffected, compared to those with only one affected parent, a higher proportion of affected descendants was found when the affected propositi was the mother. In multiplex families, the recurrence risk, according to the genetic proximity to the proband, was 10.1, 3.6 and 3.3% respectively for first, second and third degree relatives. The figures were 1.5, 0.5 and 0.4% respectively, when adjusted to the 217 extended pedigrees. Considering that the risk for the general population in Chile is approximately 0.16%, it is 10.3, 3.2 and 2.6 times higher among affected families., Conclusions: The high heritability of CL/P and the risk encountered for the Chilean population supports the hypothesis of major genes involved in its susceptibility.

Background: Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial defect. Association studies have suggested that a clefting locus is located on chromosome 4q at or near two microsatellite markers D4S175 and D4S192., Aim: To test the hypothesis on the possible presence of a clefting locus on chromosome 4q., Material and Methods: We carried out an association study on a sample of unrelated NSCLP patients, of their unaffected relatives and in controls. Both probands and relatives were further analyzed depending if they originated from simplex or multiplex families. DNA was analyzed with two PCR markers close to the putative NSCLP locus, dinucleotide repeats D4S175 and D4S192. PCR products were resolved by PAGE and visualized by silver staining. Statistical analysis was performed by means of chi 2 log ratio., Results: Significant differences between NSCLP and controls were observed when comparing the allele frequency distribution of D4S192 both in the total sample as well as in NSCLP-multiplex and simplex cases. No significant differences for D4S175 were observed in any of the comparisons. Unaffected relatives showed significant differences with controls both for D4S175 and D4S192., Conclusions: Our results support the hypothesis that a NSCLP locus maps on chromosome 4q close to the microsatellite marker D4S192. No differences were observed between NSCLP multiplex and simplex cases versus controls, implying that they do not represent different etiologic entities. The results of the present and previous studies in the same group of patients support the hypothesis that several major interacting genes participate in the etiology of NSCLP.

Background: Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial developmental defect. Association studies have suggested that a clefting locus is located on chromosome 6p at or near two possible loci, Factor 13A (FI3A) in the region 6p 25-24 and HLA at 6p 21.3., Aim: To test the hypothesis on the possible presence of a major gene on chromosome 6p associated with NSCLP., Patients and Methods: We carried out an association study on a sample of unrelated NSCLP patients from multiplex (Mx) and simplex (Sx) families, of their unaffected relatives and in control individuals. DNA was analyzed with three PCR markers close to the putative NSCLP locus, dinucleotide repeats at loci D6S89, D6S109 and D6S105. PCR products were resolved by PAGE and visualized by silver staining. Statistical analysis was performed by means of chi 2 log ratio., Results: Significant differences were observed when comparing the allele frequency distribution of D6S89 in patients with NSCLP and controls and in patients with NSCLP-Mx and controls. No significant differences were observed for patients with NSCLP-Sx. D6S109 and D6S105 showed no significant differences in any of the comparisons., Conclusions: Our results support the hypothesis that a NSCLP locus maps on 6p23 very close to D6S89. Results for D6S109 and D6S105 do not show a clear association. Differences observed between NSCLP-MX and Sx families seem to represent different etiologic entities. The results of the present study, plus those already published for candidate loci, TGFA and MSX1, support the hypothesis that several interacting major genes participate in the etiology of NSCLP.

Race and ethnicity variably influence the form of the human craniofacial complex. In the present study, the effects of ethnicity and sex on the global size of normal adult dental arches were analyzed. The dental arches of 47 northern Chilean mestizos (25 men, 22 women) and 95 northern Italian Caucasians (50 men, 45 women) were cast in stone. All subjects had a complete dentition in both arches. In all models the coordinates of dental cusp tips were digitized using an image analyzer. The center of gravity of each tooth was computed and arches were interpolated using a polynomial model (y = ax + bx2 + cx3 + dx4). In all arches, the intercanine, intermolar, and mid-intercanine to mid-intermolar distances were computed from the dental centers of gravity. These arch distances were entered in a linear discriminant function analysis. The polynomial model accurately interpolated data points in all instances, and most of the dental arch form was determined by the first and second degree coefficients. On average, Italian Caucasian arches were smaller than Chilean mestizo arches. Male mean distances were larger than female distances regardless of ethnic group or arch. The linear discriminant analysis performed between male and female arches within ethnic groups was significant only for both Italian Caucasian arches, but the percentage errors for the classification of a new individual were very high (about 30%). Conversely, Italian Caucasian arches could always be discriminated from Chilean mestizo arches of the same sex with a much smaller error.

Background: Recent studies in mice have demonstrated that the Msx-1 homebox gene is implicated in cleft palate. Thus, it has been suggested that its human homologue, MSX1 (HOX-7), located in chromosome 4 could be involved in the etiology of non syndromic cleft lip palate., Aim: To study the linkage between non syndromic cleft palate and variations of MSX1 gene., Patients and Methods: Seventy three patients with non syndromic cleft lip palate (34 simplex and 37 multiplex), 127 unaffected relatives of the cases (61 relatives of simplex cases and 66 relatives of multiplex cases) and 77 controls were studied. DNA was extracted from leukocytes and the intragenic microsatellite sequence was amplified by PCR., Results: A polymorphism of four alleles was observed, 1 (175 bp), 2 (173 bp), 3 (171 bp) and 4 (169 bp). Alleles 2 and 4 showed a joint variation in males with multiplex cleft lip palate and in their respective unaffected male relatives, that was significant when compared with male controls. Instead, the joint variation of alleles 1 and 4 of unaffected female relatives had significant differences with female controls. Females with multiplex cleft lip palate differed from female controls only in allele 1., Conclusions: These results support the hypothesis of a genetic heterogeneity in the etiology of non syndromic cleft lip palate.

Nonsyndromic cleft lip with or without cleft palate (CL/P) has an incidence of 1.5 per 1,000 live births in Chile, with 1.7 per 1,000 in males and 1.3 per 1,000 in females, which is nearly the same as the level found in Asian populations. The high rate of occurrence of CL/P in Chile is probably due to the presence of Amerindian genes in Chilean populations. Using the computer program PAP, a complex segregation analysis of CL/P was conducted for 67 multigeneration pedigrees from Chile, each ascertained from one affected proband. These pedigrees yielded 162 affected individuals and over 898 family members who were included in the analysis. The most parsimonious model of transmission indicated the presence of an autosomal dominant gene with reduced (20-25%) penetrance.

Among congenital malformations, cleft lip with and/or without cleft palate has the highest relative frequencies and shows ethnic variation in prevalence. Both malformations are generally more common among the Asian than European populations. Many populations of Chile have genes of Amerindian and Spanish ancestry, with considerable variation in the degree of Amerindian admixture. Therefore, the association of clefting incidence with Amerindian admixture was investigated. The frequency of cleft lip and/or cleft palate in infants born in three private and two public maternity service clinics of Santiago, Chile, is reported. The private clinic patients have a higher socioeconomic status (SES) than those receiving the public services. They also differ in estimated Amerindian admixture. More than 200,900 consecutive birth records were reviewed. The rate of clefting malformations is 15.3 per 10,000 live births. Based on allele frequencies at the ABO and Rh blood group loci, the percentage of Amerindian admixture is higher in infants born in the public compared to those born in the private maternity service clinics. Amerindian admixture is positively correlated (Spearman's p = 0.9, P = 0.008) with clefting rate across these samples. Clefting is also associated with SES, with lower SES showing higher clefting rates. Mothers of clefting newborns also have higher estimated Amerindian admixture compared to those of normal newborns. The results support the view that in Chilean populations, susceptibility to clefting is related to Amerindian ancestry. Am. J. Hum. Biol. 9:225-232, 1997. © 1997 Wiley-Liss, Inc., (Copyright © 1997 Wiley-Liss, Inc.)