Biomedical subjects

Joan Kramer

Publications and source records attributed to Joan Kramer.

6 recordsLinked to original sources

PubMed2006

Genome-wide linkage screen for testicular germ cell tumour susceptibility loci.

A family history of disease is a strong risk factor for testicular germ cell tumour (TGCT). In order to identify the location of putative TGCT susceptibility gene(s) we conducted a linkage search in 237 pedigrees with two or more cases of TGCT. One hundred and seventy-nine pedigrees were evaluated genome-wide with an average inter-marker distance of 10 cM. An additional 58 pedigrees were used to more intensively investigate several genomic regions of interest. Genetic linkage analysis was performed with the ALLEGRO software using two model-based parametric analyses and a non-parametric analysis. Six genomic regions on chromosomes 2p23, 3p12, 3q26, 12p13-q21, 18q21-q23 and Xq27 showed heterogeneity LOD (HLOD) scores of greater than 1, with a maximum HLOD of 1.94 at 3q26. Genome-wide simulation studies indicate that the observed number of HLOD peaks greater than one does not differ significantly from that expected by chance. A TGCT locus at Xq27 has been previously reported. Of the 237 pedigrees examined in this study, 66 were previously unstudied at Xq27, no evidence for linkage to this region was observed in this new pedigree set. Overall, the results indicate that no single major locus can account for the majority of the familial aggregation of TGCT, and suggests that multiple susceptibility loci with weak effects contribute to the disease.

Chromosome Mapping↗

PubMed2006

Familial testicular cancer: interest in genetic testing among high-risk family members.

PURPOSE: This study is part of an ongoing National Cancer Institute multidisciplinary, etiologically-focused, cross-sectional study of Familial Testicular Cancer (FTC). The current report targets interest in clinical genetic testing for susceptibility to FTC. METHODS: Demographics, knowledge, health beliefs, and psychological and social factors were evaluated as covariates related to interest in genetic testing. RESULTS: The majority (66%) of 229 participants (64 affected men, 66 unaffected men, and 99 women) from 47 multiple-case FTC families expressed interest in having a genetic test within 6 months, should such a test become available. Interest was similar among the three subgroups mentioned above. Worries about insurance discrimination based on genetic test results were associated with a significantly lower interest in testing. Alternatively, participants were more likely to be interested in genetic testing if they were younger and had higher levels of family support, a physician's recommendation supporting testing, cancer distress, and a need for information to inform the health care of their children. CONCLUSIONS: This study reveals social and relationship factors that FTC survivors and their relatives considered important when contemplating the use of new genetic technologies. This is the first study describing hypothetical interest in genetic testing for familial testicular cancer.

Adolescent↗

PubMed2005

The Y deletion gr/gr and susceptibility to testicular germ cell tumor.

Testicular germ cell tumor (TGCT) is the most common cancer in young men. Despite a considerable familial component to TGCT risk, no genetic change that confers increased risk has been substantiated to date. The human Y chromosome carries a number of genes specifically involved in male germ cell development, and deletion of the AZFc region at Yq11 is the most common known genetic cause of infertility. Recently, a 1.6-Mb deletion of the Y chromosome that removes part of the AZFc region--known as the "gr/gr" deletion--has been associated with infertility. In epidemiological studies, male infertility has shown an association with TGCT that is out of proportion with what can be explained by tumor effects. Thus, we hypothesized that the gr/gr deletion may be associated with TGCT. Using logistic modeling, we analyzed this deletion in a large series of TGCT cases with and without a family history of TGCT. The gr/gr deletion was present in 3.0% (13/431) of TGCT cases with a family history, 2% (28/1,376) of TGCT cases without a family history, and 1.3% (33/2,599) of unaffected males. Presence of the gr/gr deletion was associated with a twofold increased risk of TGCT (adjusted odds ratio [aOR] 2.1; 95% confidence interval [CI] 1.3-3.6; P = .005) and a threefold increased risk of TGCT among patients with a positive family history (aOR 3.2; 95% CI 1.5-6.7; P = .0027). The gr/gr deletion was more strongly associated with seminoma (aOR 3.0; 95% CI 1.6-5.4; P = .0004) than with nonseminoma TGCT (aOR 1.5; 95% CI 0.72-3.0; P = .29). These data indicate that the Y microdeletion gr/gr is a rare, low-penetrance allele that confers susceptibility to TGCT.

Alleles↗

PubMedDate not supplied

Allergy immunotherapy in the primary care setting: integrating national practice standards to promote safe delivery.

Allergy immunotherapy (AI) is frequently administered outside of the prescribing allergist's office in the primary care setting. Errors in this therapy can result in a wide variety of problems, ranging from local reactions to death. Proper documentation and instructions from the prescribing allergist's office as well as forms designed for complete and accurate documentation of therapy are vital components of safe administration. This article presents findings from a review of AI records in a primary care setting. Problems in documentation that could contribute to errors are examined and related to national standards of practice. Suggestions for process improvement are outlined.

Baltimore↗

PubMedDate not supplied

Allergy immunotherapy in the primary care setting.

Allergy immunotherapy commonly is administered in primary care practices by nurses and medical assistants, who often have little education or experience in this procedure. An assessment of an organization's 18 primary care offices revealed a number of deficiencies in clinical practices and documentation. The goals of an improvement initiative were to ensure that allergy immunotherapy practices complied with published guidelines and to improve staff's patient assessments, dosage calculations, and documentation skills. A policy was developed to guide practice, practice standards were implemented, staff education was provided, documentation methods and standards were established, and ongoing monitoring was set in place. After 2 years, allergy immunotherapy practices are standardized throughout the organization and improvements have been noted.

Desensitization, Immunologic↗

PubMedDate not supplied

Development and implementation of a nurse-managed anticoagulation program.

Nurse-managed anticoagulation is an emerging trend in primary care with the potential to improve the quality, efficiency, and responsiveness of outpatient anticoagulation services. Research indicates that specially trained nurses, using portable international normalized ratio (INR) monitors and decision-support systems, safely and effectively perform independent warfarin-dose adjustment. This article describes the development, implementation, and preliminary evaluation of a nurse-managed anticoagulation program as well as key lessons learned in the process. Factors for success included (a) availability of portable INR monitors, (b) designation of specially trained anticoagulation nurses, (c) use of an effective decision support system, and (d) support from staff and management.

Ambulatory Care↗