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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
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Articles 1 - 8 of 8
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Attitudes Toward Personal Health Data Sharing Among People Living With Sickle Cell Disorder, Exemplar For Study Of Rare Disease Populations, Rebecca Baines, Sebastian Stevens, Zainab Garba-Sani, Arunangsu Chatterjee, Daniela Austin, Simon Leigh
Attitudes Toward Personal Health Data Sharing Among People Living With Sickle Cell Disorder, Exemplar For Study Of Rare Disease Populations, Rebecca Baines, Sebastian Stevens, Zainab Garba-Sani, Arunangsu Chatterjee, Daniela Austin, Simon Leigh
Journal of Patient-Centered Research and Reviews
Purpose: Rare conditions are often poorly understood, creating barriers in determining the value treatments can provide. This study explored barriers and facilitators to personal health data sharing among those with one particular group of rare hematologic disorders, ie, sickle cell disorder (SCD) and its variants.
Methods: A single online focus group among those > 18 years of age and living with SCD was conducted. Participants (N = 25) were recruited through a United Kingdom-based SCD charity. Discussions were transcribed verbatim, with data therein analyzed using inductive thematic analysis.
Results: Five primary motivators for sharing health data were identified: improving awareness; knowing …
Telemedicine Consultation To Assess Neonatal Encephalopathy In Rural Community Hospitals And Tertiary Care Centers, Rachel Coffey, Misty Melendi, Anya K. Cutler, Alexa K. Craig
Telemedicine Consultation To Assess Neonatal Encephalopathy In Rural Community Hospitals And Tertiary Care Centers, Rachel Coffey, Misty Melendi, Anya K. Cutler, Alexa K. Craig
Journal of Maine Medical Center
Introduction: Teleconsultation is used in tertiary care hospitals to evaluate neonatal encephalopathy. Neonates born in community hospitals, however, often experience delayed evaluation due to transport to the tertiary care center. We studied teleconsultations in community hospitals to decrease this disparity.
Methods: Prospective observational study in 9 community hospitals and 1 neonatal intensive care unit. Inclusion criteria: gestational age greater than or equal to 35 weeks and one of the following: umbilical cord pH less than or equal to 7.2, 5-minute Apgar less than 7, prolonged respiratory support, perinatal event, or abnormal neurological exam. We performed synchronized, unscheduled telemedicine consults with …
A Time-Friendly, Feasible Measure Of Nutrition Knowledge In Type 1 Diabetes: The Electronic Nutrition And Carbohydrate Counting Quiz (Encq)., Arwen M. Marker, Amy E. Noser, Nicole Knecht, Mark A. Clements, Susana R. Patton
A Time-Friendly, Feasible Measure Of Nutrition Knowledge In Type 1 Diabetes: The Electronic Nutrition And Carbohydrate Counting Quiz (Encq)., Arwen M. Marker, Amy E. Noser, Nicole Knecht, Mark A. Clements, Susana R. Patton
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: Greater knowledge about nutrition and carbohydrate counting are associated with improved glycemic control and quality of life in youth with type 1 diabetes (T1D). However, limited assessments of nutrition and carbohydrate knowledge have been developed, and existing measures can be time-consuming, overly broad, or not conducive to routine clinical use. To fill this gap, we developed and examined the feasibility of administering the electronic Nutrition and Carbohydrate Counting Quiz (eNCQ).
METHOD: Ninety-two caregivers and 70 youth with T1D (mean age 12.5 years; mean time since diagnosis 5 years; English speaking) completed the 19-item eNCQ via tablet during a routine …
An Eqtl Landscape Of Kidney Tissue In Human Nephrotic Syndrome., Christopher E. Gillies, Rosemary Putler, Rajasree Menon, Edgar Otto, Kalyn Yasutake, Viji Nair, Paul Hoover, David Lieb, Shuqiang Li, Sean Eddy, Damian Fermin, Michelle T. Mcnulty, Nephrotic Syndrome Study Network (Neptune), Nir Hacohen, Krzysztof Kiryluk, Matthias Kretzler, Xiaoquan Wen, Matthew G. Sampson, Tarak Srivastava
An Eqtl Landscape Of Kidney Tissue In Human Nephrotic Syndrome., Christopher E. Gillies, Rosemary Putler, Rajasree Menon, Edgar Otto, Kalyn Yasutake, Viji Nair, Paul Hoover, David Lieb, Shuqiang Li, Sean Eddy, Damian Fermin, Michelle T. Mcnulty, Nephrotic Syndrome Study Network (Neptune), Nir Hacohen, Krzysztof Kiryluk, Matthias Kretzler, Xiaoquan Wen, Matthew G. Sampson, Tarak Srivastava
Manuscripts, Articles, Book Chapters and Other Papers
Expression quantitative trait loci (eQTL) studies illuminate the genetics of gene expression and, in disease research, can be particularly illuminating when using the tissues directly impacted by the condition. In nephrology, there is a paucity of eQTL studies of human kidney. Here, we used whole-genome sequencing (WGS) and microdissected glomerular (GLOM) and tubulointerstitial (TI) transcriptomes from 187 individuals with nephrotic syndrome (NS) to describe the eQTL landscape in these functionally distinct kidney structures. Using MatrixEQTL, we performed cis-eQTL analysis on GLOM (n = 136) and TI (n = 166). We used the Bayesian "Deterministic Approximation of Posteriors" (DAP) to fine-map …
The Effectiveness Of Interventions And Bundles For Central Line-Associated Bloodstream Infections In The Neonatal Intensive Care Unit, Mohamad Alhamwi
The Effectiveness Of Interventions And Bundles For Central Line-Associated Bloodstream Infections In The Neonatal Intensive Care Unit, Mohamad Alhamwi
Honors Undergraduate Theses
Introduction: Central Line-Associated Bloodstream Infections (CLABSIs) are a major cause of increased mortality, morbidity and healthcare costs in neonatal intensive care units (NICUs) patients. Despite CDC's efforts to reduce infection rates, patients often suffer consequences. The objective of this study is to perform a systematic review of strategies utilized in the neonatal population and evaluate them with the current CDC's guidelines to assess the effectiveness of bundles in preventing CLABSI in NICUs.
Methods: A systematic literature search was conducted using CINAHL Plus with Text, Cochrane Database of Systematic Reviews and MEDLINE from January 2008 up to 2018. There were multiple …
Harnessing Teams And Technology To Improve Outcomes In Infants With Single Ventricle., Girish S. Shirali, Lori A. Erickson, Johnathan Apperson, Kathy Goggin, David D. Williams, Kimberly J. Reid, Andrea Bradley-Ewing, Dawn Tucker, Michael Bingler, John Spertus, Leslie Rabbitt, Richard Stroup
Harnessing Teams And Technology To Improve Outcomes In Infants With Single Ventricle., Girish S. Shirali, Lori A. Erickson, Johnathan Apperson, Kathy Goggin, David D. Williams, Kimberly J. Reid, Andrea Bradley-Ewing, Dawn Tucker, Michael Bingler, John Spertus, Leslie Rabbitt, Richard Stroup
Manuscripts, Articles, Book Chapters and Other Papers
Infants with single ventricle require staged cardiac surgery, with stage I typically performed shortly after birth, stage II at 4 to 6 months of age, and stage III at 3 to 5 years of age. There is a high risk of interstage mortality and morbidity after infants are discharged from the hospital between stages I and II. Traditional home monitoring requires caregivers to record measurements of weight and oxygen saturation into a binder and requires families to assume a surveillance role. We have developed a tablet PC-based solution that provides secure and nearly instantaneous transfer of patient information to a …
Virus-Host Co-Evolution: Determining The Origin Of Human Cytomegalovirus Us27 And Us28, Jessica A. Scarborough, Juliet Spencer, John Paul
Virus-Host Co-Evolution: Determining The Origin Of Human Cytomegalovirus Us27 And Us28, Jessica A. Scarborough, Juliet Spencer, John Paul
Creative Activity and Research Day - CARD
G protein-coupled receptors (GPCR) are the largest family of cell surface proteins, found in organisms from yeast to humans. Human cytomegalovirus (HCMV) is a widespread pathogen that is particularly skilled at evading immune detection and defense mechanisms, largely due to extensive co-evolution with its host’s immune system. One aspect of this co-evolution involves the acquisition of four virally encoded GPCR homologs: US27, US28, UL33 and UL78. In this research, phylogenetic analysis was used to investigate the origins of the US27 and US28 genes, which are adjacent in the viral genome. The results indicate that both US27 and US28 share the …
Data Mining The Functional Characterizations Of Proteins To Predict Their Cancer-Relatedness, Peter Revesz, Christopher Assi
Data Mining The Functional Characterizations Of Proteins To Predict Their Cancer-Relatedness, Peter Revesz, Christopher Assi
School of Computing: Faculty Publications
This paper considers two types of protein data. First, data about protein function described in a number of ways, such as, GO terms and PFAM families. Second, data about whether individual proteins are experimentally associated with cancer by an anomalous elevation or lowering of their expressions within cancerous cells. We combine these two types of protein data and test whether the first type of data, that is, the functional descriptors, can predict the second type of data, that is, cancer-relatedness. By using data mining and machine learning, we derive a classifier algorithm that using only GO term and PFAM family …