Screening for MEN 2 with Biochemical and Genetic Markers

1992 ◽  
pp. 105-123 ◽  
Author(s):  
M. F. Robinson ◽  
R. F. Gagel ◽  
F. Raue
Keyword(s):  
Genetic Markers ◽  
Men 2

530: Termining Risk for Prostate Cancer at Prostate Biopsy using Genetic Markers

2005 ◽  
Vol 173 (4S) ◽  
pp. 144-145
Author(s):  
Robert K. Nam ◽  
William Zhang ◽  
John Trachtenberg ◽  
Michael A.S. Jewett ◽  
Steven Narod
Keyword(s):  
Prostate Cancer ◽  
Genetic Markers ◽  
Prostate Biopsy

New Genetic Markers May Help Predict Melanoma Outcome

2008 ◽  
Vol 39 (4) ◽  
pp. 9
Author(s):  
BRUCE JANCIN
Keyword(s):  
Genetic Markers

Memory Processes, Aging, Cognitive Decline, and Neurodegenerative Diseases

2006 ◽  
Vol 11 (4) ◽  
pp. 304-311 ◽  
Author(s):  
Lars-Göran Nilsson
Keyword(s):  
Cognitive Impairment ◽  
Cognitive Decline ◽  
Neurodegenerative Disease ◽  
Genetic Markers ◽  
Brain Activity ◽  
Memory Performance ◽  
Modeling And Simulations ◽  
Aging And Health ◽  
Explained Variance ◽  
Different Levels

This paper presents four domains of markers that have been found to predict later cognitive impairment and neurodegenerative disease. These four domains are (1) data patterns of memory performance, (2) cardiovascular factors, (3) genetic markers, and (4) brain activity. The critical features of each domain are illustrated with data from the longitudinal Betula Study on memory, aging, and health ( Nilsson et al., 1997 ; Nilsson et al., 2004 ). Up to now, early signs regarding these domains have been examined one by one and it has been found that they are associated with later cognitive impairment and neurodegenerative disease. However, it was also found that each marker accounts for only a very small part of the total variance, implying that single markers should not be used as predictors for cognitive decline or neurodegenerative disease. It is discussed whether modeling and simulations should be used as tools to combine markers at different levels to increase the amount of explained variance.

Molecular genetic markers for thyroid FNAB

2015 ◽  
Vol 54 (03) ◽  
pp. 94-100 ◽  
Author(s):  
P. B. Musholt ◽  
T. J. Musholt
Keyword(s):  
Genetic Markers ◽  
Thyroid Nodules ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Diagnostic Tools ◽  
Ultrasound Screening ◽  
Thyroid Malignancy ◽  
Thyroid Carcinomas ◽  
Molecular Genetic Markers ◽  
The Impact

SummaryAim: Thyroid nodules > 1 cm are observed in about 12% of unselected adult employees aged 18–65 years screened by ultrasound scan (40). While intensive ultrasound screening leads to early detection of thyroid diseases, the determination of benign or malignant behaviour remains uncertain and may trigger anxieties in many patients and their physicians. A considerable number of thyroid resections are consecutively performed due to suspicion of malignancy in the detected nodes. Fine needle aspiration biopsy (FNAB) has been recommended for the assessment of thyroid nodules to facilitate detection of thyroid carcinomas but also to rule out malignancy and thereby avoid unnecessary thyroid resections. However, cytology results are dependent on experience of the respective cytologist and unfortunately inconclusive in many cases. Methods: Molecular genetic markers are already used nowadays to enhance sensitivity and specificity of FNAB cytology in some centers in Germany. The most clinically relevant molecular genetic markers as pre-operative diagnostic tools and the clinical implications for the intraoperative and postoperative management were reviewed. Results: Molecular genetic markers predominantly focus on the preoperative detection of thyroid malignancies rather than the exclusion of thyroid carcinomas. While some centers routinely assess FNABs, other centers concentrate on FNABs with cytology results of follicular neoplasia or suspicion of thyroid carcinoma. Predominantly mutations of BRAF, RET/PTC, RAS, and PAX8/PPARγ or expression of miRNAs are analyzed. However, only the detection of BRAF mutations predicts the presence of (papillary) thyroid malignancy with almost 98% probability, indicating necessity of oncologic thyroid resections irrespective of the cytology result. Other genetic alterations are associated with thyroid malignancy with varying frequency and achieve less impact on the clinical management. Conclusion: Molecular genetic analysis of FNABs is increasingly performed in Germany. Standardization, quality controls, and validation of various methods need to be implemented in the near future to be able to compare the results. With increasing knowledge about the impact of genetic alterations on the prognosis of thyroid carcinomas, recommendations have to be defined that may lead to individually optimized treatment strategies.

Multilocus Analysis of Genetic Susceptibility to Myocardial Infarction in Russians: Replication Study

Acta Naturae ◽  
2017 ◽  
Vol 9 (4) ◽  
pp. 74-83
Author(s):  
N. G. Kukava ◽  
B. V. Titov ◽  
G. J. Osmak ◽  
N. A. Matveeva ◽  
O. G. Kulakova ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Genetic Markers ◽  
Prognostic Significance ◽  
Cumulative Effect ◽  
Mthfr Gene ◽  
Composite Model ◽  
Replication Study ◽  
Epistatic Interactions ◽  
Multilocus Analysis ◽  
Lipid Metabolism Genes

In search of genetic markers of myocardial infarction (MI) risk, which have prognostic significance for Russians, we performed a replication study of MI association with genetic variants of PCSK9 (rs562556), APOE (epsilon polymorphism, rs7412 and rs429358), LPL (rs320), MTHFR (rs1801133), eNOS (rs2070744), and the 9p21 region (rs1333049) in 405 patients with MI and 198 controls. Significant MI association was observed with variants of the lipid metabolism genes (PCSK9, APOE and LPL), and of eNOS. The SNPs in the MTHFR gene and the 9p21 region were not significantly associated with MI one by one but were included in several different MI-associated allelic combinations identified by multilocus analysis. Since we have not revealed nonlinear epistatic interactions between the components of the identified combinations, we postulate that the cumulative effect of genes that form a combination arises from the summation of their small independent contributions. The prognostic significance of the additive composite model built from the PCSK9, APOE, LPL, and eNOS genes as genetic markers was assessed using ROC analysis. After we included these markers in the previously published composite model of individual genetic risk of MI, the prognostic efficacy in our sample reached AUC = 0.676. However, the results obtained in this study certainly need to be replicated in an independent sample of Russians.

Genetic Markers of Male and Female Pattern Hair Loss

2005 ◽  
Vol 15 (6) ◽  
pp. 201-202
Author(s):  
Carlijn Hoedemaker ◽  
Sylvia van Egmond ◽  
Rodney Sinclair
Keyword(s):  
Genetic Markers ◽  
Hair Loss ◽  
Male And Female ◽  
Female Pattern Hair Loss

Studies on polymorphism and related groups in maize using genetic markers

2006 ◽  
Vol 54 (3) ◽  
pp. 305-313
Author(s):  
E. Nagy ◽  
L. C. Marton
Keyword(s):  
Genetic Markers
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