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Start Over Author "Cohn AC" Publisher elsevier science inc
3 results on '"Cohn AC"'

1. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Author

Cohn, AC, Toomes, C, Potter, C, Towns, KV, Hewitt, AW, Inglehearn, CF, Craig, JE, Mackey, DA, Cohn, AC, Toomes, C, Potter, C, Towns, KV, Hewitt, AW, Inglehearn, CF, Craig, JE, and Mackey, DA

Abstract

PURPOSE: We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees. DESIGN: Cross-sectional genetics study. METHODS: Probands were identified on the basis of characteristic clinical features of ADOA. We screened the OPA1 gene using single-strand conformational polymorphism, heteroduplex analysis (SSCP/HA), or by direct sequencing. Penetrance for pedigrees in which a mutation of OPA1 had been identified was calculated initially using all recruited individuals, and subanalysis was performed using only those families for which there was total recruitment of siblings. RESULTS: A total of 406 patients from 17 pedigrees were recruited, and OPA1 mutations were identified in 11/17 (65%) of these. The mean age at clinical examination was 38.2 19.9 years (median age, 35 years; range, four to 83 years). The median best-corrected visual acuity in OPA1-mutation carriers was 20/70 (range, 20/16 to hand movements [HM]). The penetrance in Australian ADOA pedigrees in the families with complete sibling recruitment was 82.5%. On the other hand, overall penetrance for all individuals harboring an OPA1 mutation was 88%. CONCLUSIONS: OPA1 mutations were identified in 11/17 (65%) of the ADOA pedigrees in this study. The penetrance in our cohort was lower than originally described (82.5% vs 98%) but higher than some recent studies since the availability of genotyping. It is anticipated that this figure would be even lower as more asymptomatic individuals are identified. There are likely to be other genetic and environmental modifiers influencing disease penetrance.

2. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations

Author

Cohn, AC, Toomes, C, Potter, C, Towns, KV, Hewitt, AW, Inglehearn, CF, Craig, JE, Mackey, DA, Cohn, AC, Toomes, C, Potter, C, Towns, KV, Hewitt, AW, Inglehearn, CF, Craig, JE, and Mackey, DA

Abstract

PURPOSE: We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees. DESIGN: Cross-sectional genetics study. METHODS: Probands were identified on the basis of characteristic clinical features of ADOA. We screened the OPA1 gene using single-strand conformational polymorphism, heteroduplex analysis (SSCP/HA), or by direct sequencing. Penetrance for pedigrees in which a mutation of OPA1 had been identified was calculated initially using all recruited individuals, and subanalysis was performed using only those families for which there was total recruitment of siblings. RESULTS: A total of 406 patients from 17 pedigrees were recruited, and OPA1 mutations were identified in 11/17 (65%) of these. The mean age at clinical examination was 38.2 19.9 years (median age, 35 years; range, four to 83 years). The median best-corrected visual acuity in OPA1-mutation carriers was 20/70 (range, 20/16 to hand movements [HM]). The penetrance in Australian ADOA pedigrees in the families with complete sibling recruitment was 82.5%. On the other hand, overall penetrance for all individuals harboring an OPA1 mutation was 88%. CONCLUSIONS: OPA1 mutations were identified in 11/17 (65%) of the ADOA pedigrees in this study. The penetrance in our cohort was lower than originally described (82.5% vs 98%) but higher than some recent studies since the availability of genotyping. It is anticipated that this figure would be even lower as more asymptomatic individuals are identified. There are likely to be other genetic and environmental modifiers influencing disease penetrance.

3. Charting the waves of prevention: two steps forward, one step back.

Author

Daro D and Donnelly AC

Subjects
Child, Forecasting, Humans, Child Abuse prevention & control, Child Advocacy trends
Abstract

Background: Over the past 30 years, the political response to child maltreatment and its prevention in the US has experienced periods of frantic activity, often followed by long periods of benign neglect. In reflecting on this history, Dick Krugman has referred to this uneven level of attention as a series of "waves" in which apparent progress is often minimized by an inability to sustain political commitment to a given reform or course of action. To an extent, this pattern reflects deep differences among child welfare advocates, researchers, and practitioners on how best to proceed. While most everyone agrees that "it shouldn't hurt to be a child," how to prevent this hurt and at what cost is less clear., Method: To address this dilemma, prevention advocates, researchers, and practitioners have struggled with a variety of conceptual frameworks and programmatic reforms. This article summarizes the relative gains and limitation of three such efforts and outlines the lessons these efforts offer those formulating future prevention policies and programs., Results: Specifically, the authors suggest that future prevention efforts will need to take care in avoiding some of the most common mistakes experienced by earlier efforts., Conclusions: These mistakes or pitfalls include oversimplifying the problem of child abuse; overstating preventions' potential and appropriate target populations; failing to establish a significant partnership with child protective services; compromising depth or quality in an effort to maximize breadth or coverage; and failing to fully engage the public.

Published
2002
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