Publications by authors named "James A Swift"
We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects. The diagnosis of lissencephaly was made in utero, allowing the rapid characterization of the phenotype at birth. Because previously reported cases were not associated with the features described in our proband, they might represent a newly identified condition.
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- Global developmental delay is often overlooked and under-studied, posing significant social challenges, especially in children with specific central nervous system impairments characterized by speech and behavioral issues.
- The study involved three children, two of whom were siblings, and focused on thorough clinical evaluations, genetic tests, and skin biopsies, revealing shared conditions like global developmental delay, osteopenia, and similar skin defects.
- The findings highlight a previously unrecognized syndrome linked to distinct skin and neurological abnormalities, suggesting the potential for identifying a specific genetic defect in these cases.
Objective: The objective of this study was to evaluate the cost utility of one year's treatment with a low-dose conjugated estrogen/medroxyprogesterone acetate (CE/MPA low dose) preparation (Premique Low Dose [Wyeth Pharmaceuticals, Maidenhead, UK]), compared with a higher-dose preparation (Premique; CE/MPA [Wyeth Pharmaceuticals, Maidenhead, UK]), in postmenopausal women with an intact uterus. The evaluation captured the resource implications associated with the difference in treatment discontinuation and adverse event driven consultations in patients receiving either the low- or higher-dose preparation. This economic evaluation was conducted from the perspective of the NHS.
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