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41.
42.
Goldstein AM Chidambaram A Halpern A Holly EA Guerry IV D Sagebiel R Elder DE Tucker MA 《Melanoma research》2002,12(1):51-55
To date, two genes have been implicated in melanoma pathogenesis. The first, CDKN2A, is a tumour suppressor gene with germline mutations detected in 20% of melanoma-prone families. The second, CDK4, is an oncogene with co-segregating germline mutations detected in only three kindreds worldwide. We examined 16 American melanoma-prone families for mutations in all coding exons of CDK4 and screened additional members of two previously reported families with the Arg24Cys germline CDK4 mutation to evaluate the penetrance of the mutation. No new CDK4 mutations were identified. In the two Arg24Cys families, the penetrance was estimated to be 63%. Overall, 12 out of 12 invasive melanoma patients, none out of one in situ melanoma patient, five out of 13 dysplastic naevi patients, two out of 15 unaffected family members, and none out of 10 spouses carried the Arg24Cys mutation. Dysplastic naevi did not strongly co-segregate with the Arg24Cys mutation. Thus the phenotype observed in melanoma-prone CDK4 families appears to be more complex than just the CDK4 mutation. Both genetic and environmental factors are likely to contribute to the occurrence of melanoma and dysplastic naevi in these families. In summary, although CDK4 is a melanoma susceptibility gene, it plays a minor role in hereditary melanoma. 相似文献
43.
Anderson TD Weber RS Guerry D Elder D Schuchter L Loevner LA Rosenthal DI 《Head & neck》2002,24(12):1068-1071
BACKGROUND: Desmoplastic neurotropic melanoma (DNM) is an uncommon cutaneous melanoma variant with pronounced neurotropism. In contrast to ordinary melanomas, locoregional recurrences are common and distant metastasis are uncommon in patients with DNM. Local control with surgery and radiation therapy may assume a more important role in this variant of melanoma. We present a case of an unresectable skull base recurrence of DNM that was controlled using radiation therapy alone and review the literature. METHODS: Case report with 36-month follow-up. RESULTS: The patient is a 68-year-old with multiple recurrences of a DNM that originated on the forehead. After extensive surgery, including total parotidectomy and temporal bone resection, the patient had an unresectable recurrence of the skull base develop. This was treated with definitive radiation therapy, resulting in a complete response. The patient has had no evidence of recurrence at 3 years. CONCLUSIONS: DNM is a locally aggressive type of melanoma with a high risk of local recurrence that can be radioresponsive. The incidence of distant metastasis is low, so aggressive treatment to control local disease is warranted. This may include surgery plus adjuvant radiation therapy or definitive radiotherapy for unresectable recurrences. 相似文献
44.
45.
Nurses' perceived barriers to the implementation of a Fall Prevention Clinical Practice Guideline in Singapore hospitals 总被引:1,自引:0,他引:1
Serena SL Koh Elizabeth Manias Alison M Hutchinson Susan Donath Linda Johnston 《BMC health services research》2008,8(1):105
Background
Theories of behavior change indicate that an analysis of barriers to change is helpful when trying to influence professional practice. The aim of this study was to assess the perceived barriers to practice change by eliciting nurses' opinions with regard to barriers to, and facilitators of, implementation of a Fall Prevention clinical practice guideline in five acute care hospitals in Singapore. 相似文献46.
47.
D. Guerry IV D. C. Dale M. Omine S. Perry S. M. Wolff 《The Journal of clinical investigation》1973,52(12):3220-3230
Human cyclic neutropenia is characterized by severe depression of blood neutrophil levels approximately every 21 days. To investigate the mechanism of cyclic neutropenia four patients were studied with daily complete blood counts, serial bone marrow examinations, marrow reserve testing, serum muramidase determinations, DF22P granulocytokinetic studies, and, in one patient, in vivo [3H]TdR labeling. Periodogram analysis of the serial blood counts in the latter patient and visual inspection of multiple cycles in the others revealed periodic fluctuations in the levels of blood neutrophils, monocytes, lymphocytes, reticulocytes, and platelets. Rhythmic changes in the morphologic and radioisotopic studies as well as the marrow reserve tests and muramidase measurements were consonant with a mechanism of periodic failure of marrow production rather than peripheral destruction. Human cyclic neutropenia is analogous to cyclic neutropenia in the grey collie dog and may be viewed as the consequence of cyclic hematopoiesis. 相似文献
48.
49.
Kesmodel SB Karakousis GC Botbyl JD Canter RJ Lewis RT Wahl PM Terhune KP Alavi A Elder DE Ming ME Guerry D Gimotty PA Fraker DL Czerniecki BJ Spitz FR 《Annals of surgical oncology》2005,12(6):449-458
Background Lymphatic mapping and sentinel lymphadenectomy (LM/SL) provide important prognostic information for patients with early-stage melanoma. Although the use of this technique in patients with thin melanomas (1.00 mm) is not routine, risk factors that may predict sentinel lymph node (SLN) positivity in this patient population are under investigation. We sought to determine whether mitotic rate (MR) is associated with SLN positivity in thin-melanoma patients and, therefore, whether it may be used to risk-stratify and select patients for LM/SL.Methods Clinical and histopathologic variables were reviewed for 181 patients with thin melanomas who underwent LM/SL from January 1996 through January 2004. Univariate and multivariate logistic regression analyses were performed to identify factors associated with SLN positivity. Risk groups were defined on the basis of the development of a classification tree.Results The overall SLN positivity rate was 5%. All patients with positive SLNs had an MR of >0. By univariate analysis, MR and thickness were significant predictors of SLN positivity. The association between MR and SLN positivity remained significant controlling for each of the other variables evaluated. On the basis of a classification tree, patients with an MR >0 and tumor thickness .76 mm were identified as a higher-risk group, with an SLN positivity rate of 12.3%.Conclusions In patients with thin melanomas, MR >0 seems to be a significant predictor of SLN positivity that may be used to risk-stratify and select patients for LM/SL. To confirm these results, the predictive value of MR for SLN positivity needs to be validated in other populations of thin-melanoma patients.Published by Springer Science+Business Media, Inc. © 2005 The Society of Surgical Oncology, Inc. 相似文献
50.
The influence of Huntington's disease (HD) on the olfactory event-related potential (OERP), an electrophysiological measure of olfactory information processing, has not been reported to date. In the present study, olfactory and auditory event-related potentials (ERPs) were recorded monopolarly from Fz, Cz, and Pz electrode sites in 8 patients with HD and 8 age- and gender-matched control participants. Results demonstrated that individuals with HD were delayed compared with controls on the P3 component of the OERP (p<.001), with a trend toward a significant delay on the auditory ERP P3 (p<.06). The effect size for OERP P3 latency (pi(2)=.72) was larger than that for the auditory P3 (pi(2)=.24), which has previously been shown to be delayed in HD. Patients performed significantly worse than controls did on all neuropsychological measures. These measures significantly correlated with several components of the OERP. These findings extend the understanding of olfactory deficits in HD. 相似文献