Biomedical subjects
Publications and source records attributed to R D Craver.
We describe a child with features of the Beckwith-Wiedemann syndrome with congenital recurrent digital fibroma of infancy that extended into and replaced the marrow of the terminal phalynx of the little finger. Digital fibromas of infancy have not previously been associated with either Beckwith-Wiedemann syndrome or invasion into underlying bone.
We describe the morphologic features seen in cytocentrifuge preparations of cerebrospinal fluid (CSF) from neonates with intraventricular hemorrhage (IVH). These CSF specimens from lumbar punctures or ventricular taps often contain degenerated red blood cells with blebs and buds, forming microspherocytes resembling budding yeast or cocci. Hemosiderin-laden macrophages and foamy histiocytes occur in early specimens and persist through multiple specimens. Hematoidin, foreign body giant cells, and CSF eosinophilia are later findings. Brain tissue fragments are frequently seen at the time of ventricular shunt placement. These cytocentrifuge specimens are essentially cytology specimens and in children should be reviewed by a qualified pathologist to interpret the findings in a clinically relevant manner.
Clinical laboratory evaluation of congenital hemoglobin disorders requires both the accurate identification of major and minor hemoglobin variants, and precise quantitation of these variants over a wide range of concentrations. Capillary isoelectric focusing is an automated, microanalytical technique that produces diagnostic information comparable to that obtained from multiple conventional assays now used by most hospital laboratories. This report describes the advantages of capillary isoelectric focusing for the routine primary assessment of hemoglobinopathies and thalassemias. The use of capillary isoelectric focusing for the identification of unusual hemoglobinopathies, including an extremely rare doubly heterozygous disorder (hemoglobin C/E disease), is described. Application of the technique for rapid (< 4 minutes) neonatal hemoglobinopathy screening, and for the analysis of Hb A1c to monitor glycemic control in diabetic subjects is also discussed. In an increasingly competitive and cost-conscious clinical diagnostic market, capillary isoelectric focusing is a rapid, specific, precise, and low-cost method for comprehensive primary analysis of hemoglobin variants.