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Biomedical subjects

J Westberg

Publications and source records attributed to J Westberg.

16 recordsLinked to original sources
PubMed1999

Truncated fragments in polymerase chain reaction-based DNA sequencing.

Reconstitution experiments were performed by using an ordinary dye-primer protocol of a template spiked with known amounts of truncated fragments. We observed that as little as 0.2 mole-percentage of the truncated fragment caused sequence interpretation problems. Two protocols were developed for sequencing with dye-labeled terminators; this eliminates the problems with truncated fragments, which are adapted to a one-dye chemistry. One was designed for single extension sequencing using T7 DNA polymerase and one for cycle sequencing. To avoid precipitation and centrifugation and to facilitate automation, the dye-terminator protocols included the use of a biotinylated sequencing primer. Thus, the Sanger fragments were recovered and, by magnetic separation, washed and released by formamide, EDTA, and heat treatment before loading on the electrophoresis gel. Integrated procedures for sequencing PCR products using one-dye-labeled terminators suitable for automation are described. High quality data in terms of long reads and detection of polymorphisms is obtained. The protocols serve as attractive alternatives to internal labeling and dye-primer approaches.

Base Sequence↗
PubMed1998

Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations.

Three properdin deficiency phenotypes have been reported--complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin protein (type III)--all associated with increased susceptibility to meningococcal disease. Expression of properdin by monocytes was examined in type I deficiency and in two unrelated cases with type II deficiency, one from a Swedish and one from a Danish family. The properdin gene in the Danish family contained a point mutation in exon 8 causing a Gln316-->Arg substitution, distinct from a point mutation in exon 4 previously found in the Swedish family. Both genes coded for physicochemically abnormal properdin molecules with changed hydrophilicity. Monocytes from all the properdin-deficient individuals produced properdin mRNA in a normal fashion. In type I deficiency no intracellular or secreted properdin was found, indicating rapid intracellular degradation. Monocytes from the males with type II deficiency expressed and secreted properdin normally. Properdin in sera with type II deficiency showed abnormal oligomerization with a relative decrease in properdin trimers and tetramers. Our findings suggest that the low concentration of circulating properdin in type II deficiency is caused by increased extracellular catabolism. Analysis of properdin expression by monocytes in a female carrier in the family with properdin deficiency type I provided direct evidence of lyonization at the cellular level.

Amino Acid Sequence↗
PubMed1997

Resource materials for faculty development.

BACKGROUND AND METHODS: Practical, well-designed, state-of-the-art resources are needed to help medical faculty enhance their skills as educators, researchers, administrators, and academics. Books, audio and video programs, CD-ROM-based programs, and interactive programs created for use on the Internet are needed for independent study, for peer learning, and for activities that are facilitated by faculty developers. The more pressure there is on faculty time, the more desirable becomes the availability of resources that can be used privately, flexibly, and in multiple locations (including home). In this paper, we 1) describe the strategies we used in identifying resources, 2) briefly describe some recently developed resources, 3) make observations about existing resources, and (4) make recommendations for the kinds of resources that need to be created and some criteria to consider when selecting and creating resources. The task of finding existing resources proved to be quite difficult, so as an outgrowth of the research done for this article, we created a Web site (http:@www.uchsc.edu/CIS) that provides a continually updated, annotated list of resources for faculty in the health professions and links to other sites with relevant information.

Computer Communication Networks↗
PubMed1996

Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

Inherited properdin deficiency is an X-linked recessive disorder clinically manifested by susceptibility to meningococcal disease. Deficiency of properdin is characterized by complete absence (type I), very low level presence (type II), or the presence of a dysfunctional properdin protein in serum as found in one Dutch family (type III). To better understand the dysfunctional protein on the molecular level, samples from three members of the Dutch family were analyzed by direct genomic sequencing. The sequence of the complete gene, including 10 exons and 9 introns, covering about 6500 bases was determined. The dysfunctional properdin was found to be caused by a single T to G mutation in exon 9, which gives rise to a substitution of a tyrosine by an aspartic acid residue at position 387. This change to a hydrophilic amino acid affects the function of the properdin molecule, although the oligomerization of dysfunctional properdin molecules was similar to that of normal properdin. In binding studies with C3b and properdin in serum, no properdin deposition was detected with the type III deficient serum. Inhibition studies with different decapeptides revealed distinct inhibitory sequences, and indicated also that the part of properdin containing the type III mutation was not directly involved in the binding to C3b. The mutation most likely causes conformational changes that make the properdin molecule dysfunctional by affecting its binding to C3b.

Amino Acid Sequence↗
PubMed1995

Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.

Properdin deficiency is an inherited X-linked disorder causing increased susceptibility to meningococcal disease. Here, underlying genetic defects in the properdin gene were identified for the first time. Samples from individuals with type I deficiency, defined as complete absence of properdin in serum, and individuals with type II deficiency, characterized by low concentrations of properdin in serum, were analyzed by direct chromosome sequencing of overlapping PCR products. The complete gene, including 10 exons and 9 introns, covering 6460 bases of the region Xp11, was investigated by direct solid-phase sequencing. In the related individuals with type I deficiency a C to T mutation in exon 5 was identified, which gives rise to a stop codon TGA and thus a truncated gene product. In addition, point mutations were found in 4 introns and a silent mutation in exon 10. In the properdin gene from related individuals with type II deficiency two point mutations were found, one in intron 3 and one in exon 4. The latter mutation yields a substitution of arginine to tryptophan, which may affect folding, secretion, and/or turnover of the protein. The genetic and biochemical implications of these mutations are discussed.

Base Sequence↗
PubMed1994

Fostering learners' reflection and self-assessment.

In most medical schools and residency programs, little or no attention is given to fostering learners' reflection or self-assessment. Yet learners who do not value or who are not effective at these skills are unlikely to extract the maximum benefit from their education. They are at risk of becoming unsafe physicians. To be optimally helpful, teachers need access to the diagnostic information about learners that is provided by their reflections and self-assessments. There are major barriers to learners being reflective and self-assessing. Medicine is dominated by unreflective doing. In the fiercely competitive environment of many teaching programs, many learners correctly perceive that it is unsafe to reveal their fears and deficiencies. Learners often retain this cautious posture even after moving to programs where it is unnecessary. Many learners and teachers have grown accustomed to authoritarian educational approaches in which teachers decide what the learners need and unilaterally evaluate their performance. In this review of the available literature, we summarize the compelling reasons for fostering reflection and self-assessment and for helping learners become their own coaches. Specific strategies and tools for creating programs that foster these values and activities are presented.

Clinical Competence↗
PubMed1989

Patient education for Hispanic Americans.

Hispanic Americans are the second largest minority in the United States, and this population is growing rapidly. Given that there are some important differences between Hispanic culture and mainstream U.S. culture, providing effective patient education to Hispanics requires being aware of their special characteristics and needs. Only limited information is now available about Hispanic Americans. In this paper, some of the data and their implications for patient education are presented and discussed. For example, Hispanic Americans are not receiving the health care services they need and want, so patient educators will probably need to reach out to them. Morbidity and mortality data and risk prevalence data are examined with an eye toward identifying health problems that are likely to need attention when caring for this population. The available literature is reviewed and suggestions are offered for providing effective patient education to Hispanics. Much more needs to be learned about the Hispanic Americans. Patient educators who have been working with Hispanics need to report on their efforts, and, if the lack of literature on patient education programs for Hispanics reflects a shortage of programs for Hispanics, this situation also needs to be remedied.

Age Factors↗
PubMed1980

Clinical teaching in physician's assistant training programs.

This is a report on the clinical component of physician's assistant (PA) training programs. Given the significant role physicians played in establishing the new profession, it is not surprising many PA programs are built on the traditional model of medical education, with clinical training occurring after didactic and laboratory-based courses in the basic sciences. It is also not unexpected that programs rely heavily on physicians as clinical instructors. This situation, however, is changing. An increasing number of PA graduates are serving as role models and as instructors in patient care settings. These graduates are also assuming positions of leadership in PA programs. Like their counterparts in medical schools, the PA faculty members surveyed in this project are not adequately prepared for their work as teachers, but they do demonstrate an eagerness to enhance their skills and to continue to upgrade the quality of teaching in their programs. Two areas in which PA faculty would particularly like help are evaluation and faculty development.

Faculty↗
PubMedDate not supplied

Kuwait steps into performance improvement.

Faculty of Kuwait University have been active promotors of quality assurance in their host country, yet despite many attempts the concept has failed. Managing the change process seems to be the primary issue and may hold the key to success.

Hospitals, Teaching↗