Analysis of BRCA1 mutations in a Pakistani family with hereditary breast and ovarian cancer syndrome.
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Breast Neoplasms↗
Biomedical subjects
F Solehdin
Publications and source records attributed to F Solehdin.
Folic acid for the prevention of congenital anomalies.
UNLABELLED: Paediatricians need to be aware of the broad implications that sufficient maternal folic acid intake has on the wellbeing of the embryo and fetus. There is now strong evidence that adequate periconceptional maternal folic acid supplementation during critical periods of organ formation is associated with reduction in both the occurrence and recurrence of neural tube defects, congenital heart defects (particularly conotruncal heart defects), obstructive urinary tract anomalies, limb deficiencies, orofacial clefts and congenital hypertrophic pyloric stenosis. Inadequate maternal folic acid intake is associated with preterm deliveries, intra-uterine growth retardation, placental abruption and infarction, while maternal folic acid supplementation is associated with a reduction in preterm deliveries and intra-uterine growth retardation. Recently adequate folic acid intake in adults has been associated with a reduction in adult cardiovascular disease and some cancers. A common mutation in the 5,10 methylenetetrahydrofolate reductase gene has been identified which produces a thermolabile variant of 5,10 methylenetetrahydrofolate reductase with reduced enzyme activity. The common mutation is a risk factor both for neural tube defects and adult cardiovascular diseases. Folic acid acts to increase the activity of the variant methylenetetrahydrofolate reductase thereby reducing plasma homocysteine levels. However the polymorphism does not explain all of the protective effects of folic acid. CONCLUSION: Primary prevention of birth defects by adequate periconceptional folic acid supplementation is a major public health opportunity and has wide implications in reducing both mortality and morbidity due to birth defects and several adult diseases. It follows that there would also be a curbing of health care costs related to those disorders.
Adult↗
Folate and its various ramifications.
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Cerebrovascular Disorders↗
Genomic imprinting.
Genomic imprinting is the modification of gene expression depending on whether the genetic material is inherited from the mother or the father. The article reviews the concept and its implications in various human disorders such as the chromosomal deletion syndromes, human cancers, endocrine disorders, and various other diseases which show parent-of-origin effects.
Chromosome Deletion↗