7 results on '"Yvonne Sheldon"'
Search Results
2. Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption
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Richard B. Parad, Yvonne Sheldon, and Arindam Bhattacharjee
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duchenne muscular dystrophy (DMD) ,creatine kinase (CK) ,targeted next-generation sequencing (tNGS) ,newborn screening (NBS) ,newly approved targeted molecular therapies ,avoiding delays and early initiation of therapy ,Pediatrics ,RJ1-570 - Abstract
Duchenne muscular dystrophy (DMD) is not currently part of mandatory newborn screening, despite the availability of a test since 1975. In the absence of screening, a DMD diagnosis is often not established in patients until 3–6 years of age. During this time, irreversible muscle degeneration takes place, and clinicians agree that the earlier therapy is initiated, the better the long-term outcome. With recent availability of FDA-approved DMD therapies, interest has renewed for adoption by state public health programs, but such implementation is a multiyear process. To speed access to approved therapies, we implemented a unique, hospital-based program offering parents of newborns an optional, supplemental DMD newborn screen (NBS) via a two-tiered approach: utilizing a creatine kinase (CK) enzyme assay coupled with rapid targeted next-generation sequencing (tNGS) for the DMD gene (using a Whole-Exome Sequencing (WES) assay). The tNGS/WES assay integrates the ability to detect both point mutations and large deletion/duplication events. This tiered newborn screening approach allows for the opportunity to improve treatment and outcomes, avoid the diagnostic delays, and diminish healthcare disparities. To implement this screening algorithm through hospitals in a way that would ultimately be acceptable to public health laboratories, we chose an FDA-approved CK-MM immunoassay to avoid the risks of false-negative/-positive results. Because newborn CK values can be affected due to non-DMD-related causes such as birth trauma, a confirmatory repeat CK assay on a later dried blood spot (DBS) collection has been proposed. Difficulties associated with non-routine repeat DBS collection, including the tracking and recall of families, and the potential creation of parental anxiety associated with false-positive results, can be avoided with this algorithm. Whereas a DMD diagnosis is essentially ruled out by the absence of detected DMD sequence abnormalities, a subsequent CK would still be warranted to confirm resolution of the initial elevation, and thus the absence of non-DMD muscular dystrophy or other pathologies. To date, we have screened over 1500 newborns (uptake rate of ~80%) by a CK-MM assay, and reflexed DMD tNGS in 29 of those babies. We expect the experience from this screening effort will serve as a model that will allow further expansion to other hospital systems until a universal public health screening is established.
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- 2021
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3. Proceedings of the 13th International Newborn Brain Conference: Other forms of brain monitoring, such as NIRS, fMRI, biochemical
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Ekaterina Balashova, Olivia Beaulieu, Imen Benhmida, Ala Birca, Geraldine Boylan, Katherine Carkeek, Rasheda Chowdhury, Maria Roberta Cilio, Anna Consoli, Gabriel Cote Corriveau, Deborah Cuddyer, Dmitriy Degtyarev, Mathieu Dehaes, Eugene Dempsey, Anneleen Dereymaeker, Beatrice Desnous, Mohamed El-Dib, Elhaytham Elsayed, Henry A. Feldman, Daragh Finn, Maria Angela Franceschini, Shoshana Freeman, Marie-Michele Gagnon, Melanie Gagnon, Aisling Garvey, Anirban Ghosh, Yulia Golubtsova, P. Ellen Grant, Susanne C. Hay, Tim Hermans, Emily Herzberg, Chuan-Heng Hsiao, Maria Iennaco, Terrie Inder, Oleg Ionov, Kutlu Kaya, Faith Keister, Miriah Kemigisha, Anna Kirtbaya, Sarah Lee, Lara Leijser, Steve Liao, Pei-Yi Lin, Rachel Lippman, Vicki Livingstone, Thuy Mai Luu, Joshua Magombe, Zamzam Mahdi, Bohdana Marandyuk, Alyssa Martin, Sean Mathieson, Edith Mbabazi, Khorshid Mohammad, Michael Moore, Ronald Mulondo, Chelsea Munster, Deirdre Murray, Esther Nalule, Davis Natukwatsa, Gunnar Naulaers, Mona Noroozi, Brian Nsubuga, John O’Toole, Andreea Pavel, Mallory Peterson, Elana Pinchefsky, Katharine Playter, Jennifer Queally, Ajay Rajaram, Andrey Ryndin, Steven Schiff, Marvin Seruwu, Diiana Sharafutdinova, Yvonne Sheldon, Marie-Noelle Simard, Jessica Sims, Tina Steele, Amelie Stritzke, John Sunwoo, Jason Sutin, Julia Tatz, Taylor Vadset, Zachary Vesoulis, Rutvi Vyas, Moses Wabukoma, Brian Walsh, Joshua Wandukwa, Benjamin Warf, Halana Whitehead, Michael Woglom, Fan-Yu Yen, Lucca Zampolli, Alexander I. Zavriyev, Hussein Zein, Bernhard Zimmermann, and Victor Zubkov
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Pediatrics, Perinatology and Child Health - Published
- 2022
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4. Influence of Hemodynamically Significant Patent Ductus Arteriosus on Cerebral Hemodynamics for Intraventricular Hemorrhage Susceptibility in Extremely Premature Infants
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Alyssa Martin, Alexander I. Zavriyev, Kutlu Kaya, Zachary Starkweather, Chelsea Munster, Tina Steele, Deborah Cuddyer, Yvonne Sheldon, Terrie Inder, Emily M. Herzberg, Mohamed El-Dib, Maria Angela Franceschini, and John Sunwoo
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- 2022
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5. Direct care nurses' perceptions of their roles in clinical research: An integrated review of the literature
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Judith A. Vessey, Andrea Hale, Jessica Serino-Cipoletta, Yvonne Sheldon, and Brenda Barton
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Patient safety ,Leadership ,Clinical research ,Nursing ,Nurses perceptions ,Extant taxon ,Psychological intervention ,Humans ,Nurses ,Translational research ,Psychology ,General Nursing - Abstract
PURPOSE To review the extant literature relevant to perceptions by direct care nurses toward clinical research endeavors. DESIGN An integrative review guided by the socioecological model was conducted. METHODS Five databases were searched to identify relevant peer-reviewed articles; there was no limitation on publication date. FINDINGS The final sample (N = 9) was systematically appraised. Numerous barriers to direct care nurses' ability to perform study activities on clinical research trials were encountered at all levels: (1) personal-comprehension, education, and training; (2) interpersonal-communication issues within or from the study team, failure to advocate for the patient; (3) organizational-lack of leadership support, knowledge, and time; and (4) community-insufficient guidance and oversight by research-governing bodies. CONCLUSIONS Direct care nurses report numerous barriers to completing protocol-administered activities for their patients participating in clinical research. A dearth of robust research exists in describing the reasons for, or persistence of, barriers faced by direct care nurses to assisting with research, and there have been little to no interventions to address them. CLINICAL RELEVANCE As translational research evolves and becomes more complex, there is the need to ensure both the care of clinical research participants and the integrity of the research. Direct care nurses are critical to this endeavor, and potential barriers they face may have significant ramifications for the research enterprise. Recognition of these barriers and eventual interventions designed to address them are needed.
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- 2021
6. Abstract TP400: Evoked Functional Cerebral Hemodynamic and Metabolic Responses in Premature Infants with and without Germinal Matrix Hemorrhage
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Katherine Hagan, Yvonne Sheldon, Pei-Yi Lin, Fang-Yu Cheng, Maria Angela Franceschini, and Ellen Grant
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Advanced and Specialized Nursing ,medicine.medical_specialty ,Cerebral hemodynamics ,business.industry ,Internal medicine ,Cardiology ,medicine ,Germinal matrix hemorrhage ,Neurology (clinical) ,Cardiology and Cardiovascular Medicine ,business ,medicine.disease - Abstract
We have created an innovative new method which uses frequency domain near-infrared spectroscopy (FDNIRS) in combination with diffuse correlation spectroscopy (DCS) to quantitatively measure cerebral blood flow (CBF) and oxygen metabolism (CMRO 2 ) right at the infant’s bedside. We have previously found CBF and CMRO 2 are more sensitive indicators of cerebral pathophysiology than hemoglobin saturation (SO 2 ). Using FDNIRS-DCS, we had found extremely premature infants with germinal matrix hemorrhage (GMH) have lower cerebral blood flow (CBF) and oxygen metabolism (CMRO 2 ) than gestational age-matched controls. For this study, we investigate whether GMH, along with age and hematocrit levels, affect evoked hemodynamic responses. The study protocol was reviewed and approved by the Institutional Review Board for Partners Healthcare. We enrolled eleven premature infants in the neonatal intensive care unit at Brigham and Women’s Hospital. Three of them had Grade I GMH diagnosed by head ultrasound on the first three days of life. We integrated continuous wave NIRS (CWNIRS) with DCS to measure dynamic changes of cerebral hemoglobin concentrations (HbO) and CBF in response to somatosensory stimuli. For each measurement, we measured differential path length factors and baseline cerebral hemoglobin concentrations with FDNIRS to quantify relative hemodynamic and metabolic changes (rHbO, rCBF and rCMRO 2 ) in response to tactile stimulation. We observed a faster response time to reach peak value in preterm infants with increasing postmenstrual age (PMA), demonstrating the response matures with age to become more adult-like (r=-0.513, p=0.007). In addition, infants measured at older PMA tend to have responses with a larger undershoot in HbO. However, the HbO undershoot did not translate into an undershoot in CMRO 2 . The HbO undershoot may therefore be a consequence of low hematocrit during the first two months of life which results in insufficient oxygen supply and leads to abnormally large oxygen extraction from the blood. We found the activation pattern of Grade I GMH infants did not differ from premature infants without hemorrhage. The study is ongoing and shows our method is suitable to measure cerebral maturation in neonates with hemorrhage.
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- 2017
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7. Role of Genetic Susceptibility in the Development of Bronchopulmonary Dysplasia
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Munish Gupta, Ivana Thompson, JoAnn Morey, Yvonne Sheldon, Linda J. Van Marter, Leslie A. Kalish, Abigail B. Winston, and Richard B. Parad
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Male ,medicine.medical_specialty ,Databases, Factual ,Gestational Age ,Risk Assessment ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Cause of Death ,030225 pediatrics ,mental disorders ,Prevalence ,Twins, Dizygotic ,medicine ,Humans ,Genetic Predisposition to Disease ,030212 general & internal medicine ,Bronchopulmonary Dysplasia ,Retrospective Studies ,business.industry ,Obstetrics ,Infant, Newborn ,Gestational age ,Retrospective cohort study ,Twins, Monozygotic ,Heritability ,medicine.disease ,Twin Studies as Topic ,Twin study ,Zygosity ,Survival Rate ,Bronchopulmonary dysplasia ,Infant, Extremely Premature ,Pediatrics, Perinatology and Child Health ,Pregnancy, Twin ,Female ,Monochorionic twins ,business ,Boston - Abstract
Objective To assess heritable contributions to bronchopulmonary dysplasia (BPD) risk in a twin cohort restricted to gestational age at birth Study design A total of 250 twin pairs (192 dichorionic, 58 monochorionic) born Results χ2 analyses comparing whether neither, 1, or both of monochorionic (23, 19, 16) and dichorionic (88, 56, 48) twin pairs developed BPD revealed no difference. Although there was similarity in BPD outcome within both monochorionic and dichorionic twin pairs by ICC (monochorionic ICC = 0.34, 95% CI [0.08, 0.55]; dichorionic ICC = 0.39, 95% CI [0.25, 0.51]), monochorionic twins were not more likely than dichorionic twins to have the same outcome (P = .70). ACE modeling revealed no contribution of heritability to BPD risk (% A = 0.0%, 95% CI [0.0%, 43.1%]). Validation and zygosity based cohort results were similar. Conclusions Our analysis suggests that heritability is not a major contributor to BPD risk in preterm infants
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- 2018
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