Danielle M McDonald

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The prevalence, incidence, clinical features, and natural history of hepatitis G virus (HGV) or GB virus C (GBV-C) were investigated in a non-remunerated blood donor population to determine its clinical significance and its impact on blood safety. Of 1020 regular blood donors, 23 (2.25%) were positive for plasma HGV/GBV-C RNA. Alanine aminotransferase(More)
Cerebellar anomalies are consistent findings in patients with the oral-facial-digital syndrome type VI (Váradi syndrome) in addition to variable facial and oral changes, and polysyndactyly of hands and feet. We report 3 unrelated patients with this entity who have a hypoplastic cerebellar vermis shown by magnetic resonance imaging (MRI), as well as clinical(More)
We describe a severe first branchial arch abnormality including nearly complete absence of mandible, hypoplasia of the maxilla and the zygomatic arches, and complete gingival fusion in a chromosomally normal child born to a nonconsanguineous couple who deny prenatal exposures. A tight orbicularis oris muscle caused the lips to be constantly pursed.(More)
Recent studies suggest that oxidative stress should be monitored alongside HbA1c to identify subgroups of diabetic patients at high risk of initiation or progression of retinopathy. The acrolein-derived advanced lipoxidation end-product (ALE), $$N^{\text{ $ \varepsilon $ }} $$ -(3-formyl-3,4-dehydropiperidino)lysine (FDP-lysine), is a useful biomarker that(More)
Stickler's syndrome is a much underdiagnosed entity in the ophthalmic population. It is a dominantly inherited disease of connective tissue whose ocular findings include moderate to severe myopia, vitreoretinal degeneration, retinal detachments, cataracts, and glaucoma. Non-ophthalmologic findings include cleft palate, midfacial hypoplasia, radiographic(More)
We report a female infant diagnosed shortly after birth as having Smith-Lemli-Opitz syndrome. Despite previously reported normal G banded karyotypes, a high resolution banded chromosome analysis identified 46,XX,2q+. The importance of attention to established features of clinical syndromes, as well as persistence in investigation when diagnostic(More)
PURPOSE Evidence-based treatment guidelines for non-small-cell lung cancer (NSCLC) exist to improve the quality of care for patients with this disease. However, how often evidence-based decisions are used for care of NSCLC is poorly understood. PATIENTS AND METHODS We examined patterns of care and rate of adherence to evidence-based guidelines for 185 new(More)
The risk of recurrence for trisomy 21 offspring in couples with one affected child is accepted to be 1%. The rate of trisomy 21 in second- and third-degree relatives is not established. Tamaren et al [Am J Med Genet 15:393-403, 1983] reported a Down syndrome rate of 0.67% among aunts and uncles (second-degree relatives) of a Down syndrome proband. This(More)
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