Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

We are investigating the use of genome sequencing for preconception carrier testing. Genome sequencing could identify one or more of thousands of X-linked or autosomal recessive conditions that could be disclosed during preconception or prenatal counseling. Therefore, a framework that helps both clinicians and patients understand the possible range of findings is needed to respect patient preferences by ensuring that information about only the desired types of genetic conditions are provided to a given patient

MR fluoroscopy in vascular and cardiac interventions (review)

Vascular and cardiac disease remains a leading cause of morbidity and mortality in developed and emerging countries. Vascular and cardiac interventions require extensive fluoroscopic guidance to navigate endovascular catheters. X-ray fluoroscopy is considered the current modality for real time imaging. It provides excellent spatial and temporal resolution, but is limited by exposure of patients and staff to ionizing radiation, poor soft tissue characterization and lack of quantitative physiologic information. MR fluoroscopy has been introduced with substantial progress during the last decade. Clinical and experimental studies performed under MR fluoroscopy have indicated the suitability of this modality for: delivery of ASD closure, aortic valves, and endovascular stents (aortic, carotid, iliac, renal arteries, inferior vena cava). It aids in performing ablation, creation of hepatic shunts and local delivery of therapies. Development of more MR compatible equipment and devices will widen the applications of MR-guided procedures. At post-intervention, MR imaging aids in assessing the efficacy of therapies, success of interventions. It also provides information on vascular flow and cardiac morphology, function, perfusion and viability. MR fluoroscopy has the potential to form the basis for minimally invasive image–guided surgeries that offer improved patient management and cost effectiveness

Climigration? Population and climate change in Arctic Alaska

Residents of towns and villages in Arctic Alaska live on “the front line of climate change.” Some communities face immediate threats from erosion and flooding associated with thawing permafrost, increasing river flows, and reduced sea ice protection of shorelines. The term climigration, referring to migration caused by climate change, originally was coined for these places. Although initial applications emphasized the need for government relocation policies, it has elsewhere been applied more broadly to encompass unplanned migration as well. Some historical movements have been attributed to climate change, but closer study tends to find multiple causes, making it difficult to quantify the climate contribution. Clearer attribution might come from comparisons of migration rates among places that are similar in most respects, apart from known climatic impacts. We apply this approach using annual 1990–2014 time series on 43 Arctic Alaska towns and villages. Within-community time plots show no indication of enhanced out-migration from the most at-risk communities. More formally, there is no significant difference between net migration rates of at-risk and other places, testing several alternative classifications. Although climigration is not detectable to date, growing risks make either planned or unplanned movements unavoidable in the near future

Association of parents' nutritional status, and sociodemographic and dietary factors with overweight/obesity in schoolchildren 7 to 14 years old Associação entre estado nutricional dos pais, variáveis sociodemográficas e dietéticas e o sobrepeso/obesidade em escolares de 7 a 14 anos

To assess the association of parents' nutritional status, and dietary and sociodemographic factors with overweight/obesity in schoolchildren in Florianópolis Island, Santa Catarina State, Brazil, this cross-sectional epidemiological study examined 2,826 schoolchildren 7 to 14 years old, classified according to body mass index curves for age and sex recommended by the International Obesity Task Force. Data were analyzed using Poisson regression. The final model showed overweight/obesity in boys associated directly with father's educational level, mother's age, and parents' nutritional status, and inversely with mother's educational level, and number of daily meals. Among girls, it associated directly with parents' nutritional status and the schoolchildren's age, and inversely with consumption of risk foods. The variables that associated with overweight/obesity differed between the sexes, except parents' nutritional status. Boys and girls with both parents overweight or obese were, respectively, 80% and 150% more likely to exhibit the same diagnosis, indicating the need for interventions that include the family environment.<br>O objetivo deste estudo foi analisar a associação entre estado nutricional dos pais, variáveis sociodemográficas, dietéticas e o sobrepeso/obesidade em escolares de 7-14 anos de Florianópolis, Santa Catarina, Brasil. Estudo transversal com 2.826 escolares, classificados com base nas curvas de índice de massa corporal para idade e sexo segundo a International Obesity Task Force. Para as análises utilizou-se a Regressão de Poisson. No modelo final, mostraram associação direta ao sobrepeso/obesidade em meninos: escolaridade do pai, idade da mãe e estado nutricional dos pais; e inversa: escolaridade da mãe e número de refeições diárias. Entre as meninas houve associação direta com estado nutricional dos pais, e inversa com idade do escolar e consumo de alimentos de risco. As variáveis associadas ao sobrepeso/obesidade diferiram entre os sexos, com exceção do estado nutricional dos pais. Filhos e filhas de ambos os pais com sobrepeso/obesidade têm risco cerca de, respectivamente, 80% e 150% maior de apresentar o mesmo diagnóstico, indicando a necessidade de intervenções também no ambiente familiar