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199 results on '"Bodurtha, Joann N."'

7. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Author

Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun‐Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, and Biesecker, Leslie G

Subjects
Genetics, Dental/Oral and Craniofacial Disease, Pediatric, Clinical Research, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Craniofacial Abnormalities, Genotype, Humans, Kruppel-Like Transcription Factors, Mouth Abnormalities, Mutation, Nerve Tissue Proteins, Pallister-Hall Syndrome, Phenotype, Polydactyly, Syndactyly, Zinc Finger Protein Gli3, GLI3, Greig syndrome, Pallister-Hall syndrome, oral-facial-digital syndrome, Clinical Sciences, Genetics & Heredity
Abstract

A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria.

Published
2010

15. Vascular aneurysms in Ehlers‐Danlos syndrome subtypes: A systematic review.

Author

Shabani, Mahsima, Abdollahi, Ashkan, Brar, Bobby K., MacCarrick, Gretchen L., Ambale Venkatesh, Bharath, Lima, Joao A. C., and Bodurtha, Joann N.

Subjects
EHLERS-Danlos syndrome, ANEURYSMS, RUPTURED aneurysms, INTRACRANIAL aneurysm ruptures, PULMONARY veins, HEART septum
Abstract

Aneurysmal lesions are commonly seen in Ehlers‐Danlos Syndrome (EDS). To better identify the regional and vessel‐specific spectrum of aneurysms in different subtypes of EDS, we performed a systematic review. We searched Medline for relevant studies from 1963 to April 2022. Studies providing a report of any EDS subtype by genetic diagnosis, histologic analysis, or clinical criteria were included. A total of 448 patients from 220 studies were included. 720 vessel‐specific aneurysms were reported: 386 in the abdominopelvic area, 165 in the intracranial region, 98 in the thorax, 2 in the extremities, and 6 in the venous system. In 27 out of the 65 patients with ruptured aneurysms, the ruptured aneurysm was the initial presentation. Multiple aneurysms were present in 163 out of 249 patients who had been systematically evaluated for other locations of aneurysms. The head and neck and abdominopelvic regions are two potential foci for aneurysm formation in patients with EDS. The aneurysm development in EDS is not confined to arteries; the venous system and cardiac septa may also be affected. Many patients develop multiple aneurysms, either at the time of the initial presentation or throughout their lifetime and aneurysm formation or rupture may be the first presentation of EDS. [ABSTRACT FROM AUTHOR]

Published
2023
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18. Youth with special health care needs: transition to adult health care services

Author

Oswald, Donald P., Gilles, Donna L., Cannady, Mariel S., Wenzel, Donna B., Willis, Janet H., and Bodurtha, Joann N.

Subjects
Teenagers -- Health aspects, Youth -- Health aspects, Health facilities -- Management, Transitional care -- Services, Company business management, Health care industry
Abstract

Transition to adult services for children and youth with special health care needs (CYSHCN) has emerged as an important event in the life course of individuals with disabilities. Issues that interfere with efficient transition to adult health care include the perspectives of stakeholders, age limits on pediatric service, complexity of health conditions, a lack of experienced healthcare professionals in the adult arena, and health care financing for chronic and complex conditions. The purposes of this study were to develop a definition of successful transition and to identify determinants that were associated with a successful transition. The 2007 Survey of Adult Transition and Health dataset was used to select variables to be considered for defining success and for identifying predictors of success. The results showed that a small percentage of young adults who participated in the 2007 survey had experienced a successful transition from their pediatric care. Keywords Transition * CSHCN * CYSHCN * Pediatrics * Adult health Disabilities, Overview and Objectives The successful transition to adult health care services for children and youth with special health care needs (CYSHCN) is becoming a key area of concern as more [...]

Published
2013
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28. Fundamentals of Genetics and Genomics in Oncology Nursing Practice and Navigation.

Author

Cummings, Shelly, Dobrea, Lavinia, Bodurtha, Joann N., dela Rama, Frank, Johnston, Danelle, Senter-Jamieson, Leigha, Shockney, Lillie D., and Klemp, Jennifer R.

Subjects
TUMOR genetics, ONCOLOGY nursing, CHROMOSOMES, DNA, GENES, GENETICS, GENETIC mutation, NURSING practice, PRESUMPTIONS (Law), RISK assessment, GENETIC testing, GENOMICS
Published
2019

29. The Role of Palliative Medicine in Assessing Hereditary Cancer Risk

Author

Abusamaan, Mohammed S., primary, Quillin, John Martin, additional, Owodunni, Oluwafemi, additional, Emidio, Oluwabunmi, additional, Kang, In Guk, additional, Yu, Brandon, additional, Ma, Brittany, additional, Bailey, Lauryn, additional, Razzak, Rab, additional, Smith, Thomas J., additional, and Bodurtha, Joann N., additional

Published
2018
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33. A genetic perspective on infant mortality

Author

Causey, Tahnee N., Bodurtha, Joann N., and Ford, Nancy

Subjects
Birth defects -- Prevention, Genetic polymorphisms -- Research, Genetic polymorphisms -- Physiological aspects, Infants -- Patient outcomes, Infants -- Research, Infants -- Genetic aspects, Infants -- Prevention, Health
Published
2010

35. Evolution of an Integrated Public Health Surveillance System

Author

Chapman, Derek A., Ford, Nancy, Tlusty, Susan, and Bodurtha, Joann N.

Subjects
Internet, Infant, Newborn, Virginia, Efficiency, Organizational, Health Surveys, Article, Death Certificates, Congenital Abnormalities, Neonatal Screening, Birth Certificates, Population Surveillance, Humans, Medical Record Linkage, Registries, Program Development, Hearing Loss
Abstract

There is a growing recognition in maternal and child health of the importance of social, behavioral, biological, and genetic factors across the entire life course. Unfortunately, most state maternal and child health surveillance systems are not designed to readily address longitudinal research questions or track and follow children across multiple programs over time. The Virginia Department of Health (VDH) recently integrated its birth defects registry, newborn hearing screening tracking and management system, and electronic birth certificate (EBC) into a robust, Web-based surveillance system called the Virginia Vital Events and Screening Tracking System (VVESTS). Completely redesigning the existing birth defects and newborn hearing screening system (the Virginia Infant Screening and Infant Tracking System--VISITS I) with minimal disruption of ongoing reporting presented a number of challenges. Because VVESTS had different requirements such as required fields and data validations, extensive data preparation was required to ensure that existing VISITS I data would be included in the new system (VISITS II). Efforts included record deduplication, conversion of free text fields into discrete variables, dealing with missing/invalid data, and linkage with birth certificate data. VISITS II serves multiple program needs; improves data quality and security; automates linkages within families, across programs, and over time; and improves the ability of VDH to provide children with birth defects and their families necessary follow-up services and enhanced care coordination.

Published
2011

39. Recruiting diverse patients to a breast cancer risk communication trial--waiting rooms can improve access

Author

Bodurtha, Joann N., Quillin, John M., Tracy, Kelly A., Borzelleca, Joseph, McClish, Donna, Wilson, Diane Baer, Jones, Resa M., Quillin, Julie, and Bowen, Deborah

Subjects
Adult, Risk, Communication, Patient Selection, Humans, Breast Neoplasms, Female, Middle Aged, Patient Acceptance of Health Care, Research Article, Aged, Randomized Controlled Trials as Topic
Abstract

Low participation among underserved populations in health research constrains progress in public health practices. From 2003 to 2005, Women's Health Clinic patients at the VCU Health System were recruited to a trial investigating breast cancer risk communication. In secondary analyses, we examined dimensions of the recruitment of these diverse women. The sample characteristics (age, insurance, race and previous mammograms) were compared to the overall clinic. Of recruitment attempts for eligible women, 45% consented; of those who declined, the top cited reasons were lack of time (40%) and lack of interest (18%). Of 899 participants, 35% qualified for the indigent care program, compared to 31% of the overall clinic (P

Published
2007

45. Intraventricular twin fetuses in fetu

Author

Huddle, Lauren N., primary, Fuller, Christine, additional, Powell, Tiffany, additional, Hiemenga, Judith A., additional, Yan, Jia, additional, Deuell, Brian, additional, Lyders, Eric M., additional, Bodurtha, Joann N., additional, Papenhausen, Peter R., additional, Jackson-Cook, Colleen K., additional, Pandya, Arti, additional, Jaworski, Margie, additional, Tye, Gary W., additional, and Ritter, Ann M., additional

Published
2012
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