Fetal alcohol syndrome

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Dr. Conrath

Health & Medicine

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? QUESTIONS ? What if I only drink a little while pregnant? I don’t drink the hard stuff… is that okay? Will I be okay if I stop the last few months. Beer doesn’t count, does it?

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What are the CHARACTERISTICS of FETAL ALCOHOL SYNDROME (FAS)? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

FETAL ALCOHOL EFFECT (FAE) ,[object Object],[object Object],[object Object],[object Object]

What is the TREATMENT or PREVENTION of FAS? ,[object Object],[object Object],[object Object]

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Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance

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FETAL ALCOHOL SYNDROME (FAS) is the leading known cause of mental retardation and birth defects in the world. Fetal alcohol syndrome is a pattern of physical, behavioral and cognitive abnormalities seen in individuals exposed to alcohol in uterus. Because alcohol is a known teratogen and the damage done to a fetus by alcohol exposure is permanent, public education about the dangers of prenatal alcohol exposure has been extensive. Many of the features of the fetal alcohol syndrome are secondary to the effect of alcohol on brain development. These include microcephaly, short palpebral fissures, the long smooth philtrum and thin vermilion of the upper lip, joint anomalies, altered palmar crease pattern, and mental retardation. Animal studies as well as a limited amount of human data also show that maternal genotype is a key player : Advances in the development of novel antioxidant therapies as an approach for fetal alcohol syndrome prevention. Peptides NAPVSIPQ (NAP) and SALLRSIPA (SAL), related to activity-dependent neuroprotective protein (ADNP), prevent alcohol-induced damage in a mouse model of FAS. In a recent study, the thyroxin reversed the deficit both in the level of their genes and their social behaviour, research is going on how the prenatal thyroid hormone supplementation reverses the behavioural deficits in the fetal alcohol spectrum disorder model. Another study used a priori approach to assess molecular phenotype in the cranial neural folds (head fold) of early mouse embryos soon after maternal alcohol treatment. FAS can be modulated pharmacologically with PK11195, a potent ligand with specific binding to the mitochondrial peripheral-type benzodiazepine receptor recognition site. PK11195 has been shown to protect early mouse embryos from eye and brain defects induced with diverse teratogens and to protect adult tissues from some inflammatory lesions. Microarray transcript profiling of the embryonic head fold at 3.0 hr after alcohol exposure or PK11195 counter-exposure enabled prioritization of candidate pathways that integrate the genomic response with genetic susceptibility of the system. These findings are consistent with the growing view that developmental exposure to alcohol alters common signalling pathways linking receptor activation to cytoskeletal reorganization. The programmatic shift in cell motility and metabolic capacity further implies cell signals and responses that are integrated by the mitochondrial recognition site for PK11195. CONCLUSIONS: Until the advent of effective prevention measures, it will remain necessary to seek ways to treat the life-long neurobehavioral consequences of prenatal alcohol exposure. Nevertheless, alcohol is a widely accepted and legal social drug, and many pregnant mothers continue to drink it while pregnant. Whereas, FAS is totally preventable by avoiding alco

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