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13 results on '"Cook, E.F."'

4. Identification of chlamydia and gonorrhoea among women in rural Haiti: maximising access to treatment in a resource poor setting

Author

Smith Fawzi, M.C., Lambert, W., Singler, J., Leandre, F., Nevil, P., Bertrand, D., Claude, M.S., Bertrand, J., Louissaint, M., Jaennis, L., Ferrer, J.G., Cook, E.F., Salazar, J.J., Farmer, P., and Mukherjee, J.S.

Subjects
Chlamydia -- Risk factors, Chlamydia -- Diagnosis, Gonorrhea -- Risk factors, Gonorrhea -- Diagnosis, Women's health services -- Research, Health
Published
2006

5. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas

Author

Grover, S. (Shilpa), Kastrinos, F. (Fay), Steyerberg, E.W. (Ewout), Cook, E.F. (E. Francis), Dewanwala, A. (Akriti), Burbidge, L.A. (Lynn), Wenstrup, R.J. (Richard), Syngal, S. (Sapna), Grover, S. (Shilpa), Kastrinos, F. (Fay), Steyerberg, E.W. (Ewout), Cook, E.F. (E. Francis), Dewanwala, A. (Akriti), Burbidge, L.A. (Lynn), Wenstrup, R.J. (Richard), and Syngal, S. (Sapna)

Abstract

Context: Patients with multiple colorectal adenomas may carry germline mutations in the APC or MUTYH genes. Objectives: To determine the prevalence of pathogenic APC and MUTYH mutations in patients with multiple colorectal adenomas who had undergone genetic testing and to compare the prevalence and clinical characteristics of APC and MUTYH mutation carriers. Design, Setting, and Participants: Cross-sectional study conducted among 8676 individuals who had undergone full gene sequencing and large rearrangement analysis of the APC gene and targeted sequence analysis for the 2 most common MUTYH mutations (Y179C and G396D) between 2004 and 2011. Individuals with either mutation underwent full MUTYH gene sequencing. APC and MUTYH mutation prevalence was evaluated by polyp burden; the clinical characteristics associated with a pathogenic mutation were evaluated using logistic regression analyses. Main Outcome Measure: Prevalence of pathogenic mutations in APC and MUTYH genes. Results: Colorectal adenomas were reported in 7225 individuals; 1457 with classic polyposis (≥100 adenomas) and 3253 with attenuated polyposis (20-99 adenomas). The prevalence of pathogenic APC and biallelic MUTYH mutations was 95 of 119 (80% [95% CI, 71%-87%]) and 2 of 119 (2% [95% CI, 0.2%-6%]), respectively, among individuals with 1000 or more adenomas, 756 of 1338 (56% [95% CI, 54%-59%]) and 94 of 1338 (7% [95% CI, 6%-8%]) among those with 100 to 999 adenomas, 326 of 3253 (10% [95% CI, 9%-11%]) and 233 of 3253 (7% [95% CI, 6%-8%]) among those with 20 to 99 adenomas, and 50 of 970 (5% [95% CI, 4%-7%]) and 37 of 970 (4% [95% CI, 3%-5%]) among those with 10 to 19 adenomas. Adenoma count was strongly associated with a pathogenic mutation in multivariable analyses. Conclusions: Among patients with multiple colorectal adenomas, pathogenic APC and MUTYH mutation prevalence varied considerably by adenoma count, including within those with a classic polyposis phenotype. APC mutations predominated in patien

Published
2012
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13. Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy

Author

Barry J. Maron, Christiane Gruner, Franco Cecchi, Michael J. Pencina, James E. Udelson, Elena Biagini, Evan Appelbaum, Tammy S. Haas, Massimo Lombardi, Raymond H. Chan, Iacopo Olivotto, Francesco Formisano, Gabriele Egidy Assenza, Benedetta Tomberli, Andrew M. Crean, Warren J. Manning, Ethan J. Rowin, E. Francis Cook, Camillo Autore, C. Michael Gibson, Carlo N. De Cecco, Claudio Rapezzi, John R. Lesser, Paolo Spirito, Susie N. Hong, Harry Rakowski, Martin S. Maron, Chan, R.H., Maron, B.J., Olivotto, I., Pencina, M.J., Assenza, G.E., Haas, T., Lesser, J.R., Gruner, C., Crean, A.M., Rakowski, H., Udelson, J.E., Rowin, E., Lombardi, M., Cecchi, F., Tomberli, B., Spirito, P., Formisano, F., Biagini, E., Rapezzi, C., De Cecco, C.N., Autore, C., Cook, E.F., Hong, S.N., Gibson, C.M., Manning, W.J., Appelbaum, E., and Maron, M.S.

Subjects
Male, Cardiomyopathy, Contrast Media, Gadolinium, Sudden cardiac death, Cohort Studies, Risk Factors, 80 and over, Single-Blind Method, Child, cardiomyopathies, heart arrest, magnetic resonance imaging Comment in, Aged, 80 and over, cardiomyopathie, medicine.diagnostic_test, Hazard ratio, Hypertrophic cardiomyopathy, Middle Aged, Prognosis, Death, Cine, embryonic structures, Cardiology, Female, Cardiomyopathies, Heart arrest, Magnetic resonance imaging, Adolescent, Adult, Aged, Cardiomyopathy, Hypertrophic, Death, Sudden, Cardiac, Humans, Magnetic Resonance Imaging, Cine, Young Adult, Physiology (medical), Cardiology and Cardiovascular Medicine, Cardiac, medicine.medical_specialty, Sudden death, NO, Internal medicine, medicine, In patient, cardiovascular diseases, business.industry, medicine.disease, Sudden, Hypertrophic, Myocardial fibrosis, business
Abstract

Background— Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden death in the young, although not all patients eligible for sudden death prevention with an implantable cardioverter-defibrillator are identified. Contrast-enhanced cardiovascular magnetic resonance with late gadolinium enhancement (LGE) has emerged as an in vivo marker of myocardial fibrosis, although its role in stratifying sudden death risk in subgroups of HCM patients remains incompletely understood. Methods and Results— We assessed the relation between LGE and cardiovascular outcomes in 1293 HCM patients referred for cardiovascular magnetic resonance and followed up for a median of 3.3 years. Sudden cardiac death (SCD) events (including appropriate defibrillator interventions) occurred in 37 patients (3%). A continuous relationship was evident between LGE by percent left ventricular mass and SCD event risk in HCM patients ( P =0.001). Extent of LGE was associated with an increased risk of SCD events (adjusted hazard ratio, 1.46/10% increase in LGE; P =0.002), even after adjustment for other relevant disease variables. LGE of ≥15% of LV mass demonstrated a 2-fold increase in SCD event risk in those patients otherwise considered to be at lower risk, with an estimated likelihood for SCD events of 6% at 5 years. Performance of the SCD event risk model was enhanced by LGE (net reclassification index, 12.9%; 95% confidence interval, 0.3–38.3). Absence of LGE was associated with lower risk for SCD events (adjusted hazard ratio, 0.39; P =0.02). Extent of LGE also predicted the development of end-stage HCM with systolic dysfunction (adjusted hazard ratio, 1.80/10% increase in LGE; P Conclusions— Extensive LGE measured by quantitative contrast enhanced CMR provides additional information for assessing SCD event risk among HCM patients, particularly patients otherwise judged to be at low risk.

Published
2014

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