[PDF][PDF] Atenção aos defeitos congênitos no Brasil: panorama atual

DDG Horovitz, JC Llerena Jr… - Cadernos de Saúde …, 2005 - SciELO Public Health
O impacto dos defeitos congênitos no Brasil vem aumentando progressivamente, tendo
passado da quinta para a segunda causa dos óbitos em menores de um ano entre 1980 e …

[HTML][HTML] Communicating genetic information in families–a review of guidelines and position papers

LE Forrest, MB Delatycki, L Skene… - European Journal of …, 2007 - nature.com
This article aims to review ethical and clinical guidelines and policies addressing the
communication of genetic information in families. Websites of national and regional …

[图书][B] Health 2020: A European policy framework and strategy for the 21st century

World Health Organization - 2013 - apps.who.int
The 53 countries of the European Region approved a new value-and evidence-based
health policy framework for the Region, Health 2020, at the session of the WHO Regional …

Guide and position of the International Society of Nutrigenetics/Nutrigenomics on personalized nutrition: part 2-ethics, challenges and endeavors of precision nutrition

M Kohlmeier, R De Caterina, LR Ferguson… - Lifestyle …, 2016 - karger.com
Nutrigenetics considers the influence of individual genetic variation on differences in
response to dietary components, nutrient requirements and predisposition to disease …

Statin treatment of children with familial hypercholesterolemia–trying to balance incomplete evidence of long-term safety and clinical accountability: are we …

A Vuorio, KF Docherty, SE Humphries, J Kuoppala… - Atherosclerosis, 2013 - Elsevier
In the heterozygous form of familial hypercholesterolemia (FH), blood concentrations of low-
density lipoprotein cholesterol (LDL-C) are elevated two to three times above the normal …

[HTML][HTML] Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

E Otten, M Plantinga, E Birnie, MA Verkerk… - Genetics in …, 2015 - nature.com
Purpose: With rapid advances in genetic technologies, new genetic information becomes
available much faster today than just a few years ago. This has raised questions about …

[HTML][HTML] Principles of genetic counseling in the era of next-generation sequencing

M Yang, JW Kim - Annals of Laboratory Medicine, 2018 - ncbi.nlm.nih.gov
Traditional genetic counseling has focused on the target gene and its natural progress with
respect to disease risk. Next-generation sequencing (NGS) can produce information on …

Preconception healthcare delivery at a population level: construction of public health models of preconception care

GD Shannon, C Alberg, L Nacul… - Maternal and child health …, 2014 - Springer
A key challenge of preconception healthcare is identifying how it can best be delivered at a
population level. To review current strategies of preconception healthcare, explore methods …

[HTML][HTML] Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with …

A Kater-Kuipers, EM Bunnik, ID De Beaufort… - BMC pregnancy and …, 2018 - Springer
Background The introduction of non-invasive prenatal testing (NIPT) for foetal aneuploidies
is currently changing the field of prenatal screening in many countries. As it is non-invasive …

Machado Joseph disease: clinical and genetic aspects, and current treatment

JAM Saute, LB Jardim - Expert Opinion on Orphan Drugs, 2015 - Taylor & Francis
Introduction: Spinocerebellar ataxia (SCA) type 3/Machado–Joseph disease (SCA3/MJD) is
the most common SCA worldwide. SCA3/MJD is an adult onset cerebellar ataxia associated …