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C Pfeiffer

Publications and source records attributed to C Pfeiffer.

85 records · Page 5Linked to original sources
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G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin.

The sequence 5'TTGGPyCAAT 3' (the 'CCAAT box') is a constituent of the promoter region of many eukaryotic and prokaryotic genes and is believed to play a part in promoter function. A characteristic of the two fetal human globin genes (A gamma and G gamma) is a duplication of a 12-base pair (bp) sequence containing the CCAAT box. Here we report a G----A substitution in the TTG sequence of the distal CCAAT box of the A gamma-globin gene in an individual with the A gamma (Greek) type of hereditary persistence of fetal haemoglobin (HPFH). This represents the first report of a natural mutation of the CCAAT box in a eukaryotic gene. The fact that this transition is associated with inappropriate expression of the A gamma gene in adult life suggests that the CCAAT box (or its surrounding sequences) may have a role in the developmental control of gamma-globin genes.

Base Sequence↗
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Decision making of clinical teams: communication patterns and diagnostic error.

This study examined the discussion of information among mixed-status clinical teams while constructing differential diagnoses. Twenty-four ad hoc teams, each consisting of a resident, an intern, and a third-year medical student, were given two hypothetical patient cases to discuss and diagnose. Prior to discussion, team members individually viewed different versions of a videotaped interview with a "patient" (trained actor). Each videotape contained some information that was present in all three versions (shared information) and some that was present in only that version (unique information). In addition, half of the time, the cases were constructed so that the unique information that appeared in only one tape was crucial for a correct diagnosis (a "hidden profile" condition). After viewing the videotapes, team members met to discuss the case and develop a differential diagnosis. Discussions were videotaped and analyzed. Overall, shared information was mentioned more often than unique information (p < 0.0001). Furthermore, teams offered incorrect diagnoses significantly more often for hidden-profile cases than for control cases (p < 0.01). The teams' overreliance on previously shared information (inability to appropriately utilize unique information) was detrimental when a correct diagnosis demanded the inclusion of such information. Clinical discussions that require the consideration of uniquely held information may be susceptible to error.

Adult↗