In this paper we will review evidence on the early life and familial influences on childhood growth and development, with particular reference to the Lifeways cross-generation cohort study in the Republic of Ireland. The Lifeways cross-generation cohort study was established in 2001–2013 through two maternity hospitals in the Republic of Ireland and was one of many new cohort studies established worldwide in the millennium period. Mothers were recruited at first booking visit, completing a self-administered questionnaire, which included a 147 item semi-quantitative FFQ. Longitudinal follow-up is ongoing in 2013, with linkage data to hospital and general practice records and examination of children when aged 5 and 9 years. The study is one of very few containing data on grandparents of both lineages with at least one grandparent recruited at baseline. There have been consistent associations between parental and grandparental health status characteristics and children's outcomes, including infant birth-weight, BMI when child was aged 5 years and childhood wheeze or asthma when child was aged 3 and aged 5 years. In conclusion, empirical evidence to date shows consistent familial and cross-generational patterns, particularly in the maternal line.
Diet and exercise followed by CC should be used for nonsurgical ovulation induction. For CC-resistant PCOS women, metformin may be included in a stepwise approach before a surgical approach. LOD with electrocautery is superior to laser drilling and gonadotropin therapy.
This prospective cross-generational cohort shows consistent patterns of association between MGM and grandchild WC, not seen in other grandparental lineages.
We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900). The two index patients were siblings, had a neonatal onset of the disease and were diagnosed based on the clinical presentation and confirmed by analysis of their dried blood spots (DBS) by tandem mass spectrometry (MS/MS). The ASL gene was then analysed by direct sequencing. A further 28 patients with a confirmed diagnosis of ASAuria based on MS/MS of their DBS were tested by sequencing for the presence of the Q354X mutation. This mutation was found in 14 out of the 28 patients (50%) tested. Our work indicates that the Q354X allele is common, may account for 50% of the abnormal ASL genes in the Saudi population, and is likely to be associated with the neonatal form of the disease. We recommend that all patients diagnosed with ASAuria in Saudi Arabia or of Arab origin be tested for this mutation and for Q116X, which has been described previously. In addition, further analysis is needed to identify other underlying disease mutations for ASAuria in the Saudi population.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.