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Your search keyword '"Rosetta Chiavacci"' showing total 4 results
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4 results on '"Rosetta Chiavacci"'

1. ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor

Author

Dong, Li, Michael E, March, Alvaro, Gutierrez-Uzquiza, Charlly, Kao, Christoph, Seiler, Erin, Pinto, Leticia S, Matsuoka, Mark R, Battig, Elizabeth J, Bhoj, Tara L, Wenger, Lifeng, Tian, Nora, Robinson, Tiancheng, Wang, Yichuan, Liu, Brant M, Weinstein, Matthew, Swift, Hyun Min, Jung, Courtney N, Kaminski, Rosetta, Chiavacci, Jonathan A, Perkins, Michael A, Levine, Patrick M A, Sleiman, Patricia J, Hicks, Janet T, Strausbaugh, Jean B, Belasco, Yoav, Dori, and Hakon, Hakonarson

Subjects
Adult, Male, Mitogen-Activated Protein Kinase Kinases, Lymphatic Abnormalities, Pyridones, Pyrimidinones, Proto-Oncogene Proteins A-raf, HEK293 Cells, Mutation, Exome Sequencing, Animals, Humans, Female, Child, Zebrafish
Abstract

The treatment of lymphatic anomaly, a rare devastating disease spectrum of mostly unknown etiologies, depends on the patient manifestations

Published
2018

2. When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority

Author

Kyle B. Brothers, Ingrid A. Holm, Janet E. Childerhose, Armand H.M. Antommaria, Barbara A. Bernhardt, Ellen Wright Clayton, Bruce D. Gelb, Steven Joffe, John A. Lynch, Jennifer B. McCormick, Laurence B. McCullough, D. Williams Parsons, Agnes S. Sundaresan, Wendy A. Wolf, Joon-Ho Yu, Benjamin S. Wilfond, Benjamin E. Berkman, Leslie G. Biesecker, Sara C. Hull, Sawona Biswas, Wendy K. Chung, Barbara Koenig, Lisa S. Lehmann, Michelle Lewis, Amy L. McGuire, Melody J. Slashinski, Lainie F. Ross, Joseph S. Salama, Debra Skinner, Holly K. Tabor, Susan M. Wolf, Cassandra Perry, Ariel Chandler, Beth Cobb, John Harley, Melanie Myers, Rosetta Chiavacci, John Connolly, Andy Faucett, Samantha Fetterolf, David Ledbetter, Janet Williams, Kelly Ehrlich, Malia Fullerton, Kelly Hansen, Andrea Hartzler, Aaron Scrol, Lucy Carruth, Elizabeth Chau, Chris Chute, Iftikhar Kullo, Richard Sharp, Murray Brilliant, Norm Frost, Terrie Kitchner, Cathy McCarty, Kadija Ferryman, Carol Horowitz, Yolanda Keppel, Rosamond Rhodes, Saskia Sanderson, Randi Zinberg, Sharon Aufox, Michael Heathcote, Vivian Pan, Maureen Smith, Nanibaa' Garrison, Melissa Basford, Jacqueline Kirby, Mollie Bodin Claar, Lauren Melancon, and Sarah Stallings

Subjects
0301 basic medicine, medicine.medical_specialty, Biomedical Research, Informed Consent, Extramural, business.industry, Research Subjects, Genomic research, MEDLINE, Age Factors, Genomics, 030105 genetics & heredity, Institutional review board, Article, 03 medical and health sciences, Young Adult, Age of majority, Informed consent, Family medicine, Pediatrics, Perinatology and Child Health, medicine, Humans, Young adult, business, Child
Published
2015

3. Return of genomic results to research participants: the floor, the ceiling, and the choices in between

Author

Gail P. Jarvik, Laura M. Amendola, Jonathan S. Berg, Kyle Brothers, Ellen W. Clayton, Wendy Chung, Barbara J. Evans, James P. Evans, Stephanie M. Fullerton, Carlos J. Gallego, Nanibaa’ A. Garrison, Stacy W. Gray, Ingrid A. Holm, Iftikhar J. Kullo, Lisa Soleymani Lehmann, Cathy McCarty, Cynthia A. Prows, Heidi L. Rehm, Richard R. Sharp, Joseph Salama, Saskia Sanderson, Sara L. Van Driest, Marc S. Williams, Susan M. Wolf, Wendy A. Wolf, Wylie Burke, John Harley, Melanie Myers, Bahram Namjou, Sander Vinks, John Connolly, Brendan Keating, Glenn Gerhard, Agnes Sundaresan, Gerard Tromp, David Crosslin, Kathy Leppig, Cathy Wicklund, Christopher Chute, John Lynch, Mariza De Andrade, John Heit, Jen McCormick, Murray Brilliant, Terrie Kitchner, Marylyn Ritchie, Erwin Böttinger, Inga Peter, Stephen Persell, Laura Rasmussen-Torvik, Tracy McGregor, Dan Roden, Armand Antommaria, Rosetta Chiavacci, Andy Faucett, David Ledbetter, Janet Williams, Andrea Hartzler, Carolyn R. Rohrer Vitek, Norm Frost, Kadija Ferryman, Carol Horowitz, Rosamond Rhodes, Randi Zinberg, Sharon Aufox, Vivian Pan, Rochelle Long, Erin Ramos, Jackie Odgis, Anastasia Wise, Sara Hull, Jonathan Gitlin, Robert Green, Danielle Metterville, Amy McGuire, Sek Won Kong, Sue Trinidad, David Veenstra, Myra Roche, Debra Skinner, Kelly Raspberry, Julianne O’Daniel, Will Parsons, Christine Eng, Susan Hilsenbeck, Dean Karavite, Laura Conlin, Nancy Spinner, Ian Krantz, Marni Falk, Avni Santani, Elizabeth Dechene, Matthew Dulik, Barbara Bernhardt, Scott Schuetze, Jessica Everett, Michele Caroline Gornick, Ben Wilfond, Holly Tabor, Amy A. Lemke, Sue Richards, Katrina Goddard, Greg Cooper, Kelly East, Greg Barsh, Barbara Koenig, Eliezer Van Allen, Judy Garber, Jeremy Garrett, Ma’n Zawati, Michelle Lewis, Sarah Savage, Maureen Smith, Sameek Roychowdhury, Alice Bailey, Benjamin Berkman, Charlisse Caga Anan, Lucia Hindorff, Carolyn Hutter, Rosalind King, Rongling Li, Nicole Lockhart, Jean McEwen, Derek Scholes, Sheri Schully, and Kathie Sun

Subjects
Societies, Scientific, Biomedical Research, Referral, Genetics, Medical, Exploratory research, MEDLINE, Disclosure, Bioinformatics, Article, Population Groups, Research participant, Genetics, Humans, Genetics(clinical), Genetic Privacy, Genetics (clinical), Receipt, Medical education, Patient Access to Records, Genome, Human, Medical record, High-Throughput Nucleotide Sequencing, Genomics, 3. Good health, Return of results, Psychology, Medical ethics
Abstract

As more research studies incorporate next-generation sequencing (including whole-genome or whole-exome sequencing), investigators and institutional review boards face difficult questions regarding which genomic results to return to research participants and how. An American College of Medical Genetics and Genomics 2013 policy paper suggesting that pathogenic mutations in 56 specified genes should be returned in the clinical setting has raised the question of whether comparable recommendations should be considered in research settings. The Clinical Sequencing Exploratory Research (CSER) Consortium and the Electronic Medical Records and Genomics (eMERGE) Network are multisite research programs that aim to develop practical strategies for addressing questions concerning the return of results in genomic research. CSER and eMERGE committees have identified areas of consensus regarding the return of genomic results to research participants. In most circumstances, if results meet an actionability threshold for return and the research participant has consented to return, genomic results, along with referral for appropriate clinical follow-up, should be offered to participants. However, participants have a right to decline the receipt of genomic results, even when doing so might be viewed as a threat to the participants’ health. Research investigators should be prepared to return research results and incidental findings discovered in the course of their research and meeting an actionability threshold, but they have no ethical obligation to actively search for such results. These positions are consistent with the recognition that clinical research is distinct from medical care in both its aims and its guiding moral principles.

Published
2014

4. A liberalized fasting guideline for formula-fed infants does not increase average gastric fluid volume before elective surgery

Author

William J. Greeley, Scott D. Cook-Sather, Kathleen A. Harris, Rosetta Chiavacci, Paul R. Gallagher, and Mark S. Schreiner

Subjects
Male, Parents, Aging, Hunger, Guidelines as Topic, Pneumonia, Aspiration, Preoperative Care, Medicine, Humans, Anesthesia, Elective surgery, Gastric fluid, business.industry, Stomach, Infant, Newborn, Infant, Mean age, Guideline, Fasting, Body Fluids, Affect, Anesthesiology and Pain Medicine, Infant formula, Female, Infant Food, Preoperative fasting, business, Formula fed, Parent satisfaction
Abstract

Recommended preoperative fasting intervals for infant formula vary from 4 to 8 h. We conducted a prospective, randomized, observer-blinded trial of 97 ASA physical status I and II infants scheduled for elective surgery to determine whether average gastric fluid volume (GFV) recovered from infants formula-fasted for 4 h (liberalized fast, Group L) differed from that recovered from infants allowed clear liquids up until 2 h, but fasted 8 h for formula and solids (traditional fast, Group T). In Group L, 31 of 39 subjects followed protocol and ingested formula 4-6 h before surgery. In Group T, 36 of 58 subjects followed protocol, taking clear liquids 2-5 h before the induction of anesthesia. Thirty subjects had prolonged fasts and were included only in a secondary intent-to-treat analysis. Respective mean age (5.7 +/- 2.3 versus 6.4 +/- 2.4 mo; range, 0.7-10.5 mo), weight (7.5 +/- 1.8 versus 7.5 +/- 1.1 kg), and volume of last feed (4.9 +/- 2.2 versus 4.0 +/- 2.3 oz.) did not vary between Groups L and T. GFV (L: 0.19 +/- 0.38 versus T: 0.16 +/- 0.30 mL/kg) and gastric fluid pH (L: 2.5 +/- 0.5 versus T: 2.9 +/- 1.3) did not vary. For all subjects, GFV (mL/kg) increased with age (Spearman correlation coefficient = +0.23, P = 0.03). Infant irritability and hunger and parent satisfaction were similar between groups. We conclude that average GFV after either a 4- to 6-h fast for infant formula or 2-h fast after clear liquids is small and not significantly different between groups. On the basis of these findings, clinicians may consider liberalizing formula feedings to 4 h before surgery in selected infants.Healthy infants agedor =10.5 mo may drink formula up to 4 h before surgery without increasing gastric fluid volume compared with infants allowed clear liquids up to 2 h and formula 8 h before surgery.

Published
2003

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