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Your search keyword '"Pollin, Toni"' showing total 19 results
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19 results on '"Pollin, Toni"'

1. Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors

Author

Maloney, Kristin A., primary, Mizerik, Elizabeth, additional, King, Robin H., additional, McGinnis, Erin M., additional, Perkowitz, Susan, additional, Diamonstein, Callie J., additional, Schmanski, Andrew A., additional, Saliganan, Sheila, additional, Shipper, Andrea G., additional, Udler, Miriam S., additional, Guan, Yue, additional, and Pollin, Toni I., additional

Published
2023
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3. Biallelic truncating variants in the muscular A‐type lamin‐interacting protein ( MLIP ) gene cause myopathy with hyperCKemia

Author

Salzer‐Sheelo, Liat, primary, Fellner, Avi, additional, Orenstein, Naama, additional, Bazak, Lily, additional, Lev‐El Halabi, Noa, additional, Daue, Melanie, additional, Smirin‐Yosef, Pola, additional, Van Hout, Cristopher V., additional, Fellig, Yakov, additional, Ruhrman‐Shahar, Noa, additional, Staples, Jeffrey, additional, Magal, Nurit, additional, Shuldiner, Alan R., additional, Mitchell, Braxton D., additional, Nevo, Yoram, additional, Pollin, Toni I., additional, Gonzaga‐Jauregui, Claudia, additional, and Basel‐Salmon, Lina, additional

Published
2022
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6. IGNITE network: Response of patients to genomic medicine interventions

Author

Orlando, Lori A., primary, Voils, Corrine, additional, Horowitz, Carol R., additional, Myers, Rachel A., additional, Arwood, Meghan J., additional, Cicali, Emily J., additional, McDonough, Caitrin W., additional, Pollin, Toni I., additional, Guan, Yue, additional, Levy, Kenneth D., additional, Ramirez, Andrea, additional, Quittner, Alexandra, additional, and Madden, Ebony B., additional

Published
2019
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9. Implementation of pharmacogenetics: The University of Maryland personalized anti-platelet pharmacogenetics program

Author

Shuldiner, Alan R., primary, Palmer, Kathleen, additional, Pakyz, Ruth E., additional, Alestock, Tameka D., additional, Maloney, Kristin A., additional, O'Neill, Courtney, additional, Bhatty, Shaun, additional, Schub, Jamie, additional, Overby, Casey Lynnette, additional, Horenstein, Richard B., additional, Pollin, Toni I., additional, Kelemen, Mark D., additional, Beitelshees, Amber L., additional, Robinson, Shawn W., additional, Blitzer, Miriam G., additional, McArdle, Patrick F., additional, Brown, Lawrence, additional, Jeng, Linda Jo Bone, additional, Zhao, Richard Y., additional, Ambulos, Nicholas, additional, and Vesely, Mark R., additional

Published
2014
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12. Genome‐wide Linkage and Association Analyses to Identify Genes Influencing Adiponectin Levels: The GEMS Stud

Author

Ling, Hua, primary, Waterworth, Dawn M., additional, Stirnadel, Heide A., additional, Pollin, Toni I., additional, Barter, Philip J., additional, Kesäniemi, Y. Antero, additional, Mahley, Robert W., additional, McPherson, Ruth, additional, Waeber, Gérard, additional, Bersot, Thomas P., additional, Cohen, Jonathan C., additional, Grundy, Scott M., additional, Mooser, Vincent E., additional, and Mitchell, Braxton D., additional

Published
2009
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13. Reduced Incidence of Hip Fracture in the Old Order Amish

Author

Streeten, Elizabeth A, primary, Mcbride, Daniel J, additional, Lodge, Amy L, additional, Pollin, Toni I, additional, Stinchcomb, David G, additional, Agarwala, Richa, additional, Schäffer, Alejandro A, additional, Shapiro, Jay R, additional, Shuldiner, Alan R, additional, and Mitchell, Braxton D, additional

Published
2003
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14. Heritability of life span in the Old Order Amish

Author

Mitchell, Braxton D., primary, Hsueh, Wen-Chi, additional, King, Terri M., additional, Pollin, Toni I., additional, Sorkin, John, additional, Agarwala, Richa, additional, Sch�ffer, Alejandro A., additional, and Shuldiner, Alan R., additional

Published
2001
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16. Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors.

Author

Maloney KA, Mizerik E, King RH, McGinnis EM, Perkowitz S, Diamonstein CJ, Schmanski AA, Saliganan S, Shipper AG, Udler MS, Guan Y, and Pollin TI

Subjects
Humans, Female, Counselors, Societies, Medical, United States, Pregnancy, Genetic Counseling methods, Diabetes Mellitus genetics, Diabetes Mellitus therapy
Abstract

Diabetes mellitus is a group of diseases characterized by hyperglycemia and its consequences, affecting over 34 million individuals in the United States and 422 million worldwide. While most diabetes is polygenic and is classified as type 1 (T1D), type 2 (T2D), or gestational diabetes (GDM), at least 0.4% of all diabetes is monogenic in nature. Correct diagnosis of monogenic diabetes has important implications for glycemic management and genetic counseling. We provide this Practice Resource to familiarize the genetic counseling community with (1) the existence of monogenic diabetes, (2) how it differs from more common polygenic/complex diabetes types, (3) the advantage of a correct diagnosis, and (4) guidance for identifying, counseling, and testing patients and families with suspected monogenic diabetes. This document is intended for genetic counselors and other healthcare professionals providing clinical services in any setting, with the goal of maximizing the likelihood of a correct diagnosis of monogenic diabetes and access to related care., (© 2023 National Society of Genetic Counselors.)

Published
2024
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17. Initial Insights into the Genetic Variation Associated with Metformin Treatment Failure in Youth with Type 2 Diabetes.

Author

Srinivasan S, Chen L, Udler M, Todd J, Kelsey MM, Haymond MW, Arslanian S, Zeitler P, Gubitosi-Klug R, Nadeau KJ, Kutney K, White NH, Li JH, Perry JA, Kaur V, Brenner L, Mercader JM, Dawed A, Pearson ER, Yee SW, Giacomini KM, Pollin T, and Florez JC

Subjects
Adult, Humans, Adolescent, C-Peptide, Treatment Failure, Genetic Variation, Blood Glucose, Hypoglycemic Agents therapeutic use, Metformin therapeutic use, Diabetes Mellitus, Type 2 drug therapy, Diabetes Mellitus, Type 2 genetics, Diabetes Mellitus, Type 2 complications
Abstract

Metformin is the first-line treatment for type 2 diabetes (T2D) in youth but with limited sustained glycemic response. To identify common variants associated with metformin response, we used a genome-wide approach in 506 youth from the Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) study and examined the relationship between T2D partitioned polygenic scores (pPS), glycemic traits, and metformin response in these youth. Several variants met a suggestive threshold ( P < 1 × 10 -6 ), though none including published adult variants reached genome-wide significance. We pursued replication of top nine variants in three cohorts, and rs76195229 in ATRNL1 was associated with worse metformin response in the Metformin Genetics Consortium ( n = 7,812), though statistically not being significant after Bonferroni correction ( P = 0.06). A higher β -cell pPS was associated with a lower insulinogenic index ( P = 0.02) and C-peptide ( P = 0.047) at baseline and higher pPS related to two insulin resistance processes were associated with increased C-peptide at baseline ( P = 0.04,0.02). Although pPS were not associated with changes in glycemic traits or metformin response, our results indicate a trend in the association of the β -cell pPS with reduced β -cell function over time. Our data show initial evidence for genetic variation associated with metformin response in youth with T2D., Competing Interests: Conflicts of Interest The authors declare that they no conflicts of interest.

Published
2023
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18. Evaluation of the Informational Content, Readability and Comprehensibility of Online Health Information on Monogenic Diabetes.

Author

Guan Y, Maloney KA, Roter DL, and Pollin TI

Subjects
Comprehension, Humans, Diabetes Mellitus, Health Literacy standards, Internet standards, Patient Education as Topic standards
Abstract

The purpose of this study was to assess the informational content, readability, suitability and comprehensibility of websites offering educational information about monogenic diabetes available to patients. The top 20 results from 15 queries in four search engines were screened. Content analysis was performed by two independent coders. Readability was determined using Flesch-Kincaid grade level (FKGL) and Simplified Measure of Goobledygook (SMOG). The Comprehensibility Assessment of Materials (SAM + CAM) scale was utilized to evaluate website suitability and comprehensibility. Only 2% (N = 29) of 1200 screened websites met inclusion criteria. Content analysis showed that 16 websites presented information on at least the most common forms of MODY (1, 2 and 3), four addressed the utility of genetic counseling, and none included support resources for patients. All websites exceeded the consensus readability level (6th grade) as assessed by FKGL (10.1 grade) and SMOG (12.8 ± 1.5 grades). Although the majority (N = 20) of websites had an overall "adequate" to "superior" quality score (SAM + CAM score > = 40%), more than one-third scored "not suitable" in categories of content, literacy demand, graphics, and learning motivation. The online educational resources for monogenic diabetes have a high readability level and require improvement in ease of use and comprehensibility for patients with diabetes.

Published
2018
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19. The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation.

Author

Shuldiner AR, Relling MV, Peterson JF, Hicks JK, Freimuth RR, Sadee W, Pereira NL, Roden DM, Johnson JA, Klein TE, Shuldiner AR, Vesely M, Robinson SW, Ambulos N Jr, Stass SA, Kelemen MD, Brown LA, Pollin TI, Beitelshees AL, Zhao RY, Pakyz RE, Palmer K, Alestock T, O'Neill C, Maloney K, Branham A, Sewell D, Relling MV, Crews K, Hoffman J, Cross S, Haidar C, Baker D, Hicks JK, Bell G, Greeson F, Gaur A, Reiss U, Huettel A, Cheng C, Gajjar A, Pappo A, Howard S, Hudson M, Pui CH, Jeha S, Evans WE, Broeckel U, Altman RB, Gong L, Whirl-Carrillo M, Klein TE, Sadee W, Manickam K, Sweet KM, Embi PJ, Roden D, Peterson J, Denny J, Schildcrout J, Bowton E, Pulley J, Beller M, Mitchell J, Danciu I, Price L, Pereira NL, Weinshilboum R, Wang L, Johnson JA, Nelson D, Clare-Salzler M, Elsey A, Burkley B, Langaee T, Liu F, Nessl D, Dong HJ, Lesko L, Freimuth RR, and Chute CG

Subjects
Communication, Evidence-Based Medicine, Genetic Testing methods, Genotyping Techniques, Guidelines as Topic, Humans, Pharmacogenetics organization & administration, Translational Research, Biomedical organization & administration
Published
2013
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