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Biomedical subjects

D J Peters

Publications and source records attributed to D J Peters.

At least 37 records · Page 2Linked to original sources
PubMed1997

The history of physical medicine and rehabilitation as recorded in the diary of Dr. Frank Krusen: Part 1. Gathering momentum (the years before 1942).

Frank H. Krusen, MD, was arguably the most influential member of the small group of physicians who began in 1938 a long and difficult struggle to win acceptance of physical medicine and rehabilitation as a medical specialty. The struggle was aided immeasurably in 1943 when a millionaire philanthropist, M. Bernard Baruch, financed the establishment of the Baruch Committee on Physical Medicine. Dr. Krusen became the Director-Secretary of the Committee and began to keep a daily diary in which he recorded his activities and those of his colleagues in their quest for recognition of PM&R as a specialized field of medical practice. That recognition came in 1947 with the establishment of the American Board of Physical Medicine, but Dr. Krusen continued his diary through 1967. In 1988, 15 years after his death, Dr. Krusen's family donated a copy of the diary to the History of Medicine Library of the Mayo Clinic in Rochester, MN. The gift coincided with the American Academy of Physical Medicine and Rehabilitation's celebration of its 50th anniversary. This article, the first of four, introduces the reader to Dr. Krusen and describes his early years and his professional development in the years before 1943.

History, 20th Century↗
PubMed1997

The history of physical medicine and rehabilitation as recorded in the diary of Dr. Frank Krusen: Part 2. Forging ahead (1943-1947).

Presented here is a continuation of the story--as drawn from the diary entries of Frank. H. Krusen. MD--of the struggle to gain recognition for, and acceptance of, physical medicine as a medical specialty in its own right. It details the events, as described by physical medicine's strongest protagonist, between 1943 and 1947 that led finally to the establishment of the American Board of Physical Medicine. The millionaire philanthropist Bernard Baruch provided the financial resources that were required to establish academic and clinical programs in the field of physical medicine. Dr. Krusen was a key member of the Baruch Committee on Physical Medicine, which provided over sight for the newly created programs. His thoughts and sentiments concerning his role in the struggle, as he recorded them in his diary, are reported here.

History, 20th Century↗
PubMed1997

Differential effects of deoxycholic acid on proliferation of neoplastic and differentiated colonocytes in vitro.

The secondary bile acid deoxycholic acid is believed to be a promoter of large bowel cancer, in part by inducing colonic epithelial proliferation. The effects of deoxycholic acid on [3H]thymidine incorporation by the human colon cancer cell line HT29 and two differentiated subclones were measured and compared. The subclone HT29-C1 has features of mature absorptive cells and HT29-N2 cells secrete mucus under cholinergic control. The three cell lines were treated with deoxycholic acid (DCA) at concentrations of 0, 5, 10, 50, 100, 150, and 300 microM for 3, 6, 9, 15, 24, and 48 hr. A significant increase in proliferation was noted in HT29 cells only at 6 hr with 5 and 10 microM deoxycholic acid. Neither the subclone HT29-C1, nor HT29-N2 cells exhibited significant change in [3H]thymidine incorporation with DCA at these concentrations or time points. Higher doses of deoxycholic acid above 50 microM and duration of exposure greater than 24 hr were cytotoxic to all three cell lines. The proliferative effects of DCA in HT29 cells were not paralleled by changes in protein kinase C activity or protein kinase C isoform expression. Quantitative and qualitative differences in PKC isoform expression were not noted in the three cell lines used in this study. The proliferative effects of DCA on HT29 cells appear to be independent of the PKC signal transduction pathway.

Blotting, Western↗
PubMed1997

Mutation detection in the repeated part of the PKD1 gene.

The principle cause of one of the most prevalent genetic disorders, autosomal dominant polycystic kidney disease, involves mutations in the PKD1 gene. However, since its identification in 1994, only 27 mutations have been published. Detection of mutations has been complicated because the greater part of the gene lies within a genomic region that is reiterated several times at another locus on chromosome 16. Amplification of DNA fragments in the repeated part of the PKD1 gene will lead to coamplification of highly homologous fragments derived from this other locus. These additional fragments severely hamper point-mutation detection. None of the point mutations published to date are located in the repeated part of the PKD1 gene. However, we have reduced the problems posed by the strong homology, by using the protein-truncation test, and we have identified eight novel mutations, seven of which are located in the repeated part of the PKD1 gene.

Chromosomes, Human, Pair 16↗
PubMed1997

Borrelia burgdorferi adherence and injury to undifferentiated and differentiated neural cells in vitro.

The role of outer surface proteins (Osp) A and B and length of time in culture on the adhesion and cytotoxicity of Borrelia burgdorferi to C6 glioma and PC-12 pheochromocytoma cells was investigated using 6 different spirochete strains in an ELISA. Statistically significant differences in adhesion between OspB mutants and parental isolates were not seen, yet clear differences in adhesion were noted between low- and high-passage isolates. Polar adhesion and penetration by the tips of spirochetes resulted in the formation of surface cavities and blebs. Adhesion of spirochetes to C6 and to undifferentiated PC-12 cells did not result in significant cytotoxicity, but adhesion of spirochetes to PC-12 cells differentiated with nerve growth factor resulted in a loss of confluence of the monolayer and cytotoxicity at high spirochete-to-cell ratios. These results demonstrate that B. burgdorferi can induce damage to neural cells directly.

Animals↗
PubMed1997

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (and sodium) channels. We have systematically screened the gene for mutations by single-strand conformation-polymorphism analysis in 35 families with the second type of ADPKD and have identified 20 mutations. So far, most mutations found seem to be unique and occur throughout the gene, without any evidence of clustering. In addition to small deletions, insertions, and substitutions leading to premature translation stops, one amino acid substitution and five possible splice-site mutations have been found. These findings suggest that the first step toward cyst formation in PKD2 patients is the loss of one functional copy of polycystin-2.

Adult↗
PubMed1996

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.

Amino Acid Sequence↗
PubMed1996

Rehabilitation intervention for patients with upper extremity dysfunction: challenges of outcome evaluation.

Upper extremity (UE) dysfunction attributed to overuse is an increasingly prevalent problem managed with interdisciplinary rehabilitation. Outcome evaluation of these programs is limited by a number of factors. First, patients with UE dysfunction include a wide variety of pathophysiologic processes and diagnoses that are associated with multiple secondary impairments, disabilities, and handicaps that limit personal performance. Second, the particular experience of disablement and expectations each person brings to the rehabilitation process necessitates an individualized program with unique goals. Successful outcome measurement of the rehabilitation process must take into account the achievement of individual goals as well as objective scalar quantification of impairments, disabilities, and handicaps that are comparable between groups. Understanding of the relationships between UE impairments and given functional outcomes will come from controlled, dosed treatment studies in "pure" diagnostic patient groups. Outcomes research applied to UE rehabilitation as it is currently practiced should include individually devised patient assessments of accomplishment and satisfaction in addition to long-term quantitative reassessment of the person under all domains of disablement and work performance.

Arm Injuries↗
PubMed1996

Analysis of a large family with the second type of autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder A mutation in at least three different genes can cause the disease. A mutation in the first gene, the PKD1 gene, which has been identified on chromosome 16p13.3, accounts for ADPKD in approximately 86% of the families with this disorder. In the majority of the other ADPKD families the disease is caused by a mutation in a second gene, the PKD2 gene. This gene has been mapped to chromosome 4q21-22, but has not yet been identified. In a few families ADPKD is not caused by a mutation in either the PKD1 or the PKD2 gene. The locus for a possible third gene has not yet been determined. Now that haplotype analysis with polymorphic markers at the ADPKD1 and ADPKD2 loci is possible, we can easily distinguish between both forms of ADPKD. We describe a large Dutch family in which ADPKD is linked to chromosome 4. Compared with ADPKD1 families, the disease in this family tends to run a milder course, as has been described previously for other ADPKD2 families.

Adult↗
PubMed1996

Detection of translation terminating mutations in the PKD1 gene.

Since the identification of the PKD1 gene in 1994, few mutations have been found. This is mainly due to the very strong homology between a large part of the PKD1 gene and another locus on the short arm of chromosome 16. It is expected that the majority of mutations at the PKD1 locus will be small deletions, insertions and point mutations. Amplification of a piece of DNA derived from the repeated area of the PKD1 gene will result in co-amplification of DNA fragments from the other locus. Detection of mutations is significantly hampered this way. We present a procedure, using the protein truncation test, which reduces the complexity caused by the homologous sequences. We have studied a group of 20 patients with ADPKD at the 3' end of the PKD1 transcript and have produced promising results.

Base Sequence↗
PubMed1996

Disablement observed, addressed, and experienced: integrating subjective experience into disablement models.

Although subjective experience is critical to full comprehension of disablement, it has yet to be integrated into models in a systematic and theoretically grounded way. This article presents a framework for modelling disablement that includes both objective and subjective features. The framework is based on a novel integration of: (1) perspectives on disablement; (2) the contexts within which disablement occurs; and (3) interaction among these perspectives and contexts. The framework is developed using nomenclature derived from the WHO's International Classification of Impairments, Disabilities, and Handicaps (ICIDH). Although ICIDH terminology is used, the article's integration of ideas can as well be applied to other disablement nomenclatures and models. The framework offers a conceptual background for innovative clinical, policy, and research responses to disablement, as well as for further development of disablement theory and models.

Activities of Daily Living↗
PubMed1996

Adult, fetal, and polycystic kidney expression of polycystin, the polycystic kidney disease-1 gene product.

The polycystic kidney disease-1 gene, which is mutated in the majority of patients with autosomal dominant polycystic kidney disease, has been identified. The protein encoded by this gene, polycystin, has no homology with any gene known thus far. To gain more insight into the function of polycystin, we raised antibodies against synthetic peptides and a fusion protein corresponding to the sequence of two different fragments of polycystin. Two of the antibodies were capable of immunoprecipitating an in vitro transcription and translation product corresponding to a fragment of polycystin. In the cyst-lining epithelium of polycystic kidney disease-1 patients, a strong staining was observed. In normal adult and embryonic kidney tissues, expression was seen in the epithelium of all tubular structures and in the glomerular parietal and visceral epithelium (podocytes), although the podocytes were mainly recognized on cryosections and not on paraffin sections. A double-labeled immunofluorescence with one of the polycystin antibodies and the monoclonal antibody 8G8 ascertained that within the glomerular tuft podocytes were recognized.

Adult↗
PubMed1995

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.

The Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome with facial abnormalities, broad thumbs, broad big toes and mental retardation as the main clinical features. Many patients with RTS have been shown to have breakpoints in, and microdeletions of, chromosome 16p13.3 (refs 4-8). Here we report that all these breakpoints are restricted to a region that contains the gene for the human CREB binding protein (CBP), a nuclear protein participating as a co-activator in cyclic-AMP-regulated gene expression. We show that RTS results not only from gross chromosomal rearrangements of chromosome 16p, but also from point mutations in the CBP gene itself. Because the patients are heterozygous for the mutations, we propose that the loss of one functional copy of the CBP gene underlies the developmental abnormalities in RTS and possibly the propensity for malignancy.

Amino Acid Sequence↗
PubMed1995

Intracranial aneurysms in polycystic kidney disease linked to chromosome 4.

Autosomal dominant polycystic kidney disease is genetically heterogenous, with at least two chromosomal loci accounting for the disease. When the mutation is located on chromosome 16 (PKD1), extra-renal manifestations such as the rupture of intracranial aneurysms are well known. In the case of localization on chromosome 4 (PKD2), in which the renal disease runs a milder course, not much is known about the incidence of extrarenal manifestations. A PKD2 family is reported in which two members had subarachnoidal bleeding due to intracranial aneurysms; there was strong clinical evidence of subarachnoidal bleeding in a third family member. This indicates that the familial clustering of intracranial aneurysms may also occur in PKD2 families. Because of the considerable mortality and morbidity of intracranial aneurysms, screening with magnetic resonance angiography in PKD2 patients with a positive family history of intracranial aneurysms is recommended.

Adult↗
PubMed1993

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. A gene defect located on the short arm of chromosome 16 is responsible for the disease in roughly 86% of affected European families. Using highly polymorphic microsatellite DNA markers, we have assigned a second gene for ADPKD to chromosome 4. In eight families with clear evidence against linkage to chromosome 16 markers, linkage analysis with the markers D4S231 and D4S423, demonstrated a multipoint lod score of 22.42.

Adult↗