ABSTRACT INTRODUCTION The consequences of de novo balanced structural chromosome aberrations diagnosed antenatally are unpredictable, and, as a result, they introduce uncertainty into genetic counseling decisions. OBJECTIVE Describe de novo balanced structural aberrations present at antenatal diagnosis in samples from pregnant women in five Latin American countries and determine their effect on carrier individuals. METHODS This was a retrospective observational study based on analysis of 109,011 antenatal tests conducted from January 1981 to December 2016 in Cuba, Uruguay, Costa Rica, Mexico, and Colombia. Thirteen cytogenetic laboratories provided information that included the cases analyzed during the study period; number of de novo balanced structural aberrations diagnosed antenatally; number of diagnoses with de novo balanced structural aberrations that resulted in termination of pregnancy; detailed descriptions of the karyotypes of de novo balanced structural aberration carriers, and descriptions of the form of diagnosis, including types of samples used (amniotic fluid, chorionic villus or fetal blood). Each laboratory also provided pathology reports and genetic counseling at time of diagnosis. Postnatal followup for pregnancies carried to term continued for at least two years. RESULTS Of the 109,011 antenatal tests studied, 72 (0.07%) showed de novo balanced structural aberrations. These events primarily involved chromosomes 1, 2, 7, 14, 18, and 20. Of the 79 breakpoints identified, the most common were 5p15.3, 7q11.2, 7q22, and 14q24. We identified three breakpoints corresponding to 3.8% (3q13.1, 3q13.2, and 9p12) that were not reported in other studies of de novo balanced structural aberrations diagnosed antenatally in patients from other geographic regions or in studies of chromosomal fragile sites. Two of these breakpoints (3q13.1 and 3q13.2) were associated with high risk of phenotypic abnormalities. Information on antenatal or postnatal followup was available for 62 (86%) of de novo balanced structural aberration carriers; of the 44 carriers with postnatal followup, 10 had phenotypic abnormalities. CONCLUSIONS Three new de novo breakpoints were identified, presumably related to genetic admixture characteristics in Latin America. Since some diseases associated with de novo balanced structural aberrations detected antenatally have a late onset, followup for at least two years is recommended for carriers of these aberrations. The information in this study is useful in genetic counseling for pregnant women in Latin America.
Abstract: Researchers are making increasing use of the distinction between cultural logics emphasizing dignity, face, and honor. Students from eight nations including two from Latin America rated items tapping the extent to which they believed that most persons in their nation endorsed these types of mindset. Their ratings did not accord with prior beliefs as to which cultures exemplify dignity, face, and honor. However, the predictions that analytic cognition would be more prevalent in dignity cultures and contrasting types of holistic cognition would be more prevalent in face and honor cultures were supported. The belief that the logic of dignity was prevalent within one’s nation was significantly associated with higher life satisfaction.
Resumen: Las investigaciones se están centrando cada vez con mayor énfasis en el uso de la distinción entre lógicas culturales, haciendo más hincapié en la dignidad, el mantenimiento del status quo estructural de una sociedad (face) y el honor. Estudiantes de 8 países, incluyendo 2 de América Latina, clasificaron elementos sobre cuán importante para la aceptación social es la dignidad o el honor para la mayoría de las personas en su nación. Las calificaciones obtenidas no concuerdan con creencias previas en cuanto a cuáles culturas promueven más la dignidad y/o el honor como guías de su comportamiento. Sin embargo, las predicciones de que los patrones de cognición analítica serían más frecuentes en culturas que se centran en la dignidad, y que los patrones de cognición holística serían más frecuentes en culturas que se centran en la honra fueron apoyadas. Adicionalmente, la creencia de que la lógica de la dignidad era frecuente dentro de cada nación se asoció significativamente con una mayor satisfacción de vida.
Objective: To assess prevalence and correlates of family caregiver burdens associated with mental and physical conditions worldwide. Methods: Cross-sectional community surveys asked 43,732 adults residing in 19 countries of the WHO World Mental Health (WMH) Surveys about chronic physical and mental health conditions of first-degree relatives and associated objective (time, financial) and subjective (distress, embarrassment) burdens. Magnitudes and associations of burden are examined by kinship status and family health problem; population-level estimates are provided. Results: Among the 18.9-40.3% of respondents in high, upper-middle, and low/lower-middle income countries with first-degree relatives having serious health problems, 39.0-39.6% reported burden. Among those, 22.9-31.1% devoted time, 10.6-18.8% had financial burden, 23.3-27.1% reported psychological distress, and 6.0-17.2% embarrassment. Mean caregiving hours/week was 12.9-16.5 (83.7-147.9 hours/week/100 people aged 18+). Mean financial burden was 15.1% of median family income in high, 32.2% in upper-middle, and 44.1% in low/lower-middle income countries. A higher burden was reported by women than men, and for care of parents, spouses, and children than siblings. Conclusions: The uncompensated labor of family caregivers is associated with substantial objective and subjective burden worldwide. Given the growing public health importance of the family caregiving system, it is vital to develop effective interventions that support family caregivers.