Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons^™

Predicting Premature Birth Risk With Cfrna, Jason Lin, Jonathan Marin, John Santerre

SMU Data Science Review

Identifying which genes are early indicators for preterm births using cell-free ribonucleic acid (cfRNA) from non-invasive blood tests provided by pregnant women can improve prenatal care. Currently, there are no medical tests for early detection of preterm birth risk in routine checkups for pregnant women. Recent studies have shown potential genes that can predict preterm birth. Machine learning techniques are utilized to see if the Area Under the Curve (AUC) can be improved upon when evaluating the prediction accuracy for chosen genes sequences and concentrations. Using cell-free RNA data from non-invasive blood tests in conjunction with machine learning, we improve …

Burden Of Disease In Pediatric Patients With Hypophosphatasia: Results From The Hpp Impact Patient Survey And The Hpp Outcomes Study Telephone Interview., Eric T. Rush, Scott Moseley, Anna Petryk

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, including bone mineralization defects and systemic complications. The burden of disease is poorly characterized, particularly in children. This study aimed to characterize the patient-reported burden of disease among children with HPP using two survey instruments: the HPP Impact Patient Survey (HIPS) and the HPP Outcomes Study Telephone interview (HOST).

METHODS: Between September 2009 and June 2011, pediatric patients (aged younger than 18 years) with HPP were recruited to participate in the study via …

Recommendations For The Design Of Therapeutic Trials For Neonatal Seizures., Janet S. Soul, Ronit Pressler, Marilee Allen, Geraldine Boylan, Heike Rabe, Ron Portman, Pollyanna Hardy, Sarah Zohar, Klaus Romero, Brian Tseng, Varsha Bhatt-Mehta, Cecil Hahn, Scott Denne, Stephane Auvin, Alexander Vinks, John Lantos, Neil Marlow, Jonathan M. Davis, International Neonatal Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Although seizures have a higher incidence in neonates than any other age group and are associated with significant mortality and neurodevelopmental disability, treatment is largely guided by physician preference and tradition, due to a lack of data from well-designed clinical trials. There is increasing interest in conducting trials of novel drugs to treat neonatal seizures, but the unique characteristics of this disorder and patient population require special consideration with regard to trial design. The Critical Path Institute formed a global working group of experts and key stakeholders from academia, the pharmaceutical industry, regulatory agencies, neonatal nurse associations, and patient advocacy …

Permanent Junctional Reciprocating Tachycardia In Infants And Children, Ranjit I. Kylat Md, Ricardo A. Samson

School of Medicine Faculty Research

Permanent junctional reciprocating tachycardia (PJRT) is a rare form of supraventricular tachycardia (SVT). It generally presents in infants but can be difficult to diagnose. The characteristic EKG findings, response to Adenosine and persistence or frequent recurrences are helpful in making the diagnosis. It is usually difficult to manage with the initial and single medications used in SVT. Many patients are misdiagnosed and not treated effectively and end up having end stage cardiomyopathy and are diagnosed in patients referred for transplant. Hence all patients referred for a cardiac transplant with dilated cardiomyopathy need to be evaluated for this arrhythmia. If appropriate …

The Effects Of Antenatal Betamethasone On Late Preterm Infants, Jennifer Hummel, Abigail Prest, Xinhua Chen

Rowan-Virtua Research Day

Administration of steroids to mothers expected to deliver in the late preterm period has previously been found to decrease neonatal respiratory morbidity. In this retrospective chart review, there were no significant differences between groups in the primary outcome of required respiratory support for the neonate, incidence of periventricular hemorrhage or neonatal death. However, this study found that their rate of hyperbilirubinemia, need for phototherapy, and NICU stays were longer than their counterparts whose mothers did not receive steroids or who only received one dose.These findings may provide support for future protocols directed to improve neonatal morbidity secondary to jaundice.

A Unique Model For Palliative Care In A Level Iv Neonatal Intensive Care Unit, Kelstan L. Ellis Do, Megan Tucker, Jennifer Linebarger

Posters

This poster describes a review of the relationship between the Fetal Health Center and the Palliative Care team as the Palliative Care Team follows the patient family from prenatal through neonatal intensive care.

Improving Nicu Referrals To The Missouri Early Intervention Program (First Steps), Luke Prest, Lauren Fenstermann, Ayman Khmour

Posters

First Steps is the statewide early intervention program in Missouri, but a review of referrals from the Truman neonatal intensive care unit revealed that only 24% of eligible patients were being referred. This poster describes efforts to increase awareness among residents and to refer all eligible patients to First Steps upon discharge.

Who Codes In The Nicu: An Analysis Of Demographics And Factors That Place Neonates At Higher/Lower Risk Of A Serious Code Event And Prognosis Post-Code, Danielle N. Gonzales, Ashley K. Sherman, Jennifer Dremann, Staci Elliott, Amelia Gute, Amber Bellinghausen, Jessica Brunkhorst, Danielle Reed

Posters

This study analyzed resuscitation events in a level IV neonatal intensive care unit from 2012-2017 to determine whether there are identifiable differences between those who have a rapid response event and those with a short or long code and determine factors post-event that may impact survival to discharge.

Fetal Ventricular Measurement In Determination For Intrauterine Closure Of Myelomeningoceles, Paige Lundy, Emanuel Vlastos, Paul A. Grabb

Posters

Prenatal closure of myelomeningoceles for fetuses with ventricular width of greater than 15 mm at the time of intrauterine screening (19-25 weeks) has been discouraged, but little is documented regarding the details of ventricle measurement, modality, and timing. This study concludes that ultrasound and MRI provide different results in regards to fetal ventricle size. If treatment recommendations are going to be offered or withheld based on the 15 mm "rule" the method of fetal imaging must be taken into account.

Validity Of Neonatal Poc Glucose Testing, Matthew Turnquist, Amy Haskins, Christina Holt

MaineHealth Maine Medical Center

Background:

Glucose monitoring a common invasive intervention in newborn period

•most commonly obtained laboratory value

Appropriate identification of hypoglycemia is critical:

•Severe hypoglycemia can lead to neurologic insult

•Cerebral palsy, developmental delay, seizures, death

Metabolic Control, Quality Of Life, And Body Image In Patients With Glycogen Storage Disease Type Ia, Alexa Bream

Dissertations and Theses (Open Access)

Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary to an inability to properly break down glycogen and to perform gluconeogenesis. Complex management is then necessary for patients and includes dietary modification, frequent cornstarch usage, and evaluation for additional complications such as hepatic adenomas, hypertriglyceridemia, and kidney disease. Previous studies have found lower scores in quality of life and body image in GSDIa patients; however, the specific factors influencing this …

Total And Free Plasma Bilirubin And Clinical Outcomes In Severe Hyperbilirubinemia, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, Tina Slusher, Fatima Abdullahi, Hafsat M. Suleiman, Victor C. Pam, Mamu B. Samuel, Christopher S. Yilgwan, Christian Isichei, Idris Y. Mohammed

Posters

Acute bilirubin encephalopathy (ABE) and kernicterus spectrum disorder (KSD) have become relatively uncommon in high income countries but remain a major cause of morbidity and mortality in low- and middle-income countries. To better understand the relationship between free (Bf) and total (TB) bilirubin levels and the development of ABE and KSD we followed infants born in three large tertiary centers in northern and central Nigeria (Jos, Kano and Zaria).

Weighted Pathway Genetic Load Analysis Of Hyperbilirubinemic Infants Indicates A Potential Genetic Component For Susceptibility To Bilirubin Neurotoxicity, Sean M. Riordan, Jean-Baptiste Lepichon, Steven Shapiro, John Cowden, Monica Villagullen, Laurence Thielemans, Dina Villanueva Garcia, Jesus Aguirre-Hernandez

Posters

Severe kernicterus spectrum disorder (KSD) is described as motor and auditory deficits resulting from brain damage caused by hyperbilirubinemia. The severity of HB does not always predict the severity of injury. The lack of a strong monogenetic link to susceptibility suggests bilirubin-induced brain damage may be due to impaired bilirubin response pathways. This poster describes work to use a modified pathway genetic load (mPGL) score method to perform a targeted genetic analysis of whole exome data from patients with various degrees of neonatal HB, with an ultimate goal of developing a neonatal screen to susceptibiltiy to bilirubin neurotoxicity.

Identification Of Inadvertent Azygous Vein Cannulation Using Transthoracic Echocardiography During Venoarterial Extracorporeal Membrane Oxygenation Initiation., Bethany Runkel, Jason D. Fraser, John Daniel, Karina M. Carlson

Manuscripts, Articles, Book Chapters and Other Papers

It is well known that optimal cannula positioning during initiation of venoarterial (VA) extracorporeal membrane oxygenation (ECMO) is directly related to ECMO circuit function. Malpositioned cannulae can have deleterious effects on clinical outcomes, and inadvertent cannulation of the azygous vein during initiation of ECMO is a rare but potentially devastating complication that has been reported only a few times in the literature. Here we report a case of azygous vein cannulation in a neonate that was not identified on chest radiography but was recognized and corrected expeditiously with the use of transthoracic echocardiography.

The Pharmabiotic For Phenylketonuria: Development Of A Novel Therapeutic, Chloé Elizabeth Lebegue

Senior Theses

Phenylketonuria, now known as phenylalanine hydroxylase (PAH) deficiency, is a genetic disorder of metabolism affecting approximately one in every 15,000 infants born in the United States. Patients have nonfunctional PAH enzyme secondary to one or more genetic mutations. The enzyme deficit results in destructive supraphysiologic blood phenylalanine levels upon consumption of the essential dietary amino acid phenylalanine. Current standards of care mitigate signs and symptoms of the disorder, but do not approach a cure. The methods for creating a prototype pharmabiotic as an innovative treatment strategy for PAH deficiency are described herein.

DNA molecular cloning techniques were utilized to engineer …

Aortoduodenal Fistula Forms From Primary Aortic Stump Graft In A Two-Time Multi-Visceral Transplant Patient With Presentation Of Gastrointestinal Bleed And Bowel Perforation: A Case Report, Brielle Corrente

Graduate Student Research Symposium

Usually not diagnosed until open laparotomy, aortoduodenalfistulas (ADF) are one of the rarest complications of intestinal transplant surgery. With an incidence rate of only 0.04% at autopsy and only 250 documented cases since the early 1800’s, aortoduodenal fistulas are the most deadly complications of intestinal transplantation with a mortality rate of 100% without surgical intervention. A 39 year old, two-time multi-visceral transplant African American female patient suffered from a primary aortoduodenal fistula formation in a primary modified multi-visceral transplant aortic stump graft site. With emergency open laparotomy repair, revascularization of the secondary multi-visceral transplant was performed, saving the life of …

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 …

Insulin Pump Adherence Behaviors Do Not Correlate With Glycemic Variability Among Youth With Type 1 Diabetes (T1d)., Emily Paprocki, Vincent S. Staggs, Susan Patton, Mark A. Clements

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

The Copy Number Variation Landscape Of Congenital Anomalies Of The Kidney And Urinary Tract., Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A. Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P. Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E Van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K. Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David E. Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M. Rodas, Josep M. Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora M. Miranda, Eduardo A. Oliveira, Ana Cristina Simões-E-Silva, Jonathan M. Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E. Papaioannou, Cathy L. Mendelsohn, Ali G. Gharavi, Simone Sanna-Cherchi

Manuscripts, Articles, Book Chapters and Other Papers

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, …

Analgesia And Sedation Medication Use In Infants With Congenital Diaphragmatic Hernia Is Associated With Adverse Outcome, Mark Weems, Theresa Grover, Robert Digeronimo, Jason Gien, Ruth Seabrook, Sarah Keene, Natalie Rintoul, Beverly Brozanski, John Daniel, Rachel Chapman, Burhan Mahmood, Yvette Johnson, Yigit Guner, Holly Hedrick, Isabella Zaniletti, Karna Murthy

Posters

This study describes the use and variation of sedation and analgesic medications as well as short-term clinical outcomes in infants with congenital diaphragmatic hernia.

Coarctation Of Aorta In Children., Arpan R. Doshi, Sathish Chikkabyrappa

Manuscripts, Articles, Book Chapters and Other Papers

Coarctation of aorta (CoA) is a discrete narrowing in aorta causing obstruction to the flow of blood. It accounts for 6-8% of all congenital heart diseases. With advances in fetal echocardiography rate of prenatal diagnosis of coarctation of aorta has improved but it still remains a challenging diagnosis to make prenatally. Transthoracic echocardiography is mainstay of making initial diagnosis and routine follow-up. Cardiac magnetic resonance imaging (MRI) and computed tomography (CT) are great advanced imaging tools for two-dimensional and three-dimensional imaging of aortic arch in complex cases. Based on type of coarctation, size of patient, severity of lesion, and associated …

A Multicenter Study To Evaluate Pulmonary Function In Osteogenesis Imperfecta., Allison Tam, Shan Chen, Evan Schauer, Ingo Grafe, Venkata Bandi, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeffrey Krischer, Mary Mullins, Peter H. Byers, Robert A. Sandhaus, Michaela Durigova, Francis H. Glorieux, Frank Rauch, Vernon Reid Sutton, Brendan Lee, Members Of The Brittle Bone Disorders Consortium, Eric T. Rush, Sandesh C S Nagamani

Manuscripts, Articles, Book Chapters and Other Papers

Pulmonary complications are a significant cause for morbidity and mortality in osteogenesis imperfecta (OI). However, to date, there have been few studies that have systematically evaluated pulmonary function in individuals with OI. We analyzed spirometry measurements, including forced vital capacity (FVC) and forced expiratory volume in the first second (FEV₁ ), in a large cohort of individuals with OI (n = 217) enrolled in a multicenter, observational study. We show that individuals with the more severe form of the disease, OI type III, have significantly reduced FVC and FEV₁ which do not follow the expected trends of the …

Risk Stratification Of Febrile Infants ≤60 Days Old Without Routine Lumbar Puncture., Paul L. Aronson, Marie E. Wang, Eugene D. Shapiro, Samir S. Shah, Adrienne G. Deporre, Russell J Mcculloh, Christopher M. Pruitt, Sanyukta Desai, Lise E. Nigrovic, Richard D. Marble, Rianna C. Leazer, Sahar N. Rooholamini, Laura F. Sartori, Fran Balamuth, Christopher Woll, Mark I. Neuman, Febrile Young Infant Research Collaborative

Manuscripts, Articles, Book Chapters and Other Papers

Video Abstract: media-1vid110.1542/5840460609001PEDS-VA_2018-1879

OBJECTIVES: To evaluate the Rochester and modified Philadelphia criteria for the risk stratification of febrile infants with invasive bacterial infection (IBI) who do not appear ill without routine cerebrospinal fluid (CSF) testing.

METHODS: We performed a case-control study of febrile infants ≤60 days old presenting to 1 of 9 emergency departments from 2011 to 2016. For each infant with IBI (defined as a blood [bacteremia] and/or CSF [bacterial meningitis] culture with growth of a pathogen), controls without IBI were matched by site and date of visit. Infants were excluded if they appeared ill or had a …

The Impact Of Pulmonary Hypertension In Preterm Infants With Severe Bronchopulmonary Dysplasia Through 1 Year., Joanne M. Lagatta, Erik B. Hysinger, Isabella Zaniletti, Erica M. Wymore, Shilpa Vyas-Read, Sushmita Yallapragada, Leif D. Nelin, William E. Truog, Michael A. Padula, Nicolas F M Porta, Rashmin C. Savani, Karin P. Potoka, Steven M. Kawut, Robert Digeronimo, Girija Natarajan, Huayan Zhang, Theresa R. Grover, William A. Engle, Karna Murthy, Children's Hospital Neonatal Consortium Severe Bpd Focus Group

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: To assess the effect of pulmonary hypertension on neonatal intensive care unit mortality and hospital readmission through 1 year of corrected age in a large multicenter cohort of infants with severe bronchopulmonary dysplasia.

STUDY DESIGN: This was a multicenter, retrospective cohort study of 1677 infants bornChildren's Hospital Neonatal Consortium with records linked to the Pediatric Health Information System.

RESULTS: Pulmonary hypertension occurred in 370 out of 1677 (22%) infants. During the neonatal admission, pulmonary hypertension was associated with mortality (OR 3.15, 95% CI 2.10-4.73, P < .001), ventilator support at 36 weeks of postmenstrual age (60% vs 40%, P < .001), duration of ventilation (72 IQR 30-124 vs 41 IQR 17-74 days, P < .001), and higher respiratory severity score (3.6 IQR 0.4-7.0 vs 0.8 IQR 0.3-3.3, P < .001). At discharge, pulmonary hypertension was associated with tracheostomy (27% vs 9%, P < .001), supplemental oxygen use (84% vs 61%, P < .001), and tube feeds (80% vs 46%, P < .001). Through 1 year of corrected age, pulmonary hypertension was associated with increased frequency of readmission (incidence rate ratio [IRR] = 1.38, 95% CI 1.18-1.63, P < .001).

CONCLUSIONS: Infants with severe bronchopulmonary dysplasia-associated pulmonary hypertension have increased morbidity and mortality through …

Genetic Predisposition To Necrotizing Enterocolitis In Premature Infants: Current Knowledge, Challenges, And Future Directions., Alain Cuna, Lovya George, Venkatesh Sampath

Manuscripts, Articles, Book Chapters and Other Papers

The role of genetics in the pathogenesis of necrotizing enterocolitis (NEC) was initially informed by epidemiological data indicating differences in prevalence among different ethnic groups as well as concordance in twins. These early observations, together with major advances in genomic research, paved the way for studies that begin to reveal the contribution of genetics to NEC. Using the candidate gene or pathway approach, several potential pathogenic variants for NEC in premature infants have already been identified. More recently, genome-wide association studies and exome-sequencing based studies for NEC have been reported. These advances, however, are tempered by the lack of adequately …

Azithromycin For Early Pseudomonas Infection In Cystic Fibrosis. The Optimize Randomized Trial., Nicole Mayer-Hamblett, George Retsch-Bogart, Margaret Kloster, Frank Accurso, Margaret Rosenfeld, Gary Albers, Philip Black, Perry Brown, Annemarie Cairns, Stephanie D. Davis, Gavin R. Graff, Gwendolyn S. Kerby, David Orenstein, Rachael Buckingham, Bonnie W. Ramsey, Optimize Study Group

Manuscripts, Articles, Book Chapters and Other Papers

RATIONALE: New isolation of Pseudomonas aeruginosa (Pa) is generally treated with inhaled antipseudomonal antibiotics such as tobramycin inhalation solution (TIS). A therapeutic approach that complements traditional antimicrobial therapy by reducing the risk of pulmonary exacerbation and inflammation may ultimately prolong the time to Pa recurrence.

OBJECTIVES: To test the hypothesis that the addition of azithromycin to TIS in children with cystic fibrosis and early Pa decreases the risk of pulmonary exacerbation and prolongs the time to Pa recurrence.

METHODS: The OPTIMIZE (Optimizing Treatment for Early Pseudomonas aeruginosa Infection in Cystic Fibrosis) trial was a multicenter, double-blind, randomized, placebo-controlled, 18-month trial …

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 …

Ursodeoxycholic Acid Versus Phenobarbital For Cholestasis In The Neonatal Intensive Care Unit., Tamorah Lewis, Simisola Kuye, Ashley Sherman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Although neonates and young infants with cholestasis are commonly treated with either phenobarbital or ursodeoxycholic acid (ursodiol), there is no evidence that phenobarbital is effective for this indication. Our objective was to compare the effectiveness of ursodiol and phenobarbital for the treatment of cholestasis in a diverse NICU population.

METHODS: This is a retrospective cohort study including infants with cholestasis who were admitted to a Level IV NICU between January 2010 and December 2015. Drug courses of phenobarbital and ursodiol were identified within the medical record, and medical, demographic, and drug information were extracted. The primary outcome was reduction …

Agreement Between Clinician-Rated Versus Patient-Reported Outcomes In Huntington Disease, Noelle E Carlozzi, Nicholas R Boileau, Joel S Perlmutter, Kelvin L Chou, Julie C Stout, Jane S Paulsen, Michael K Mccormack, David Cella, Martha A Nance, Jin-Shei Lai, Praveen Dayalu

Rowan-Virtua School of Osteopathic Medicine Departmental Research

BACKGROUND: Clinician-rated measures of functioning are often used as primary endpoints in clinical trials and other behavioral research in Huntington disease. As study costs for clinician-rated assessments are not always feasible, there is a question of whether patient self-report of commonly used clinician-rated measures may serve as acceptable alternatives in low risk behavioral trials.

AIM: The purpose of this paper was to determine the level of agreement between self-report and clinician-ratings of commonly used functional assessment measures in Huntington disease.

DESIGN: 486 participants with premanifest or manifest Huntington disease were examined. Total Functional Capacity, Functional Assessment, and Independence Scale assessments …

Birth History As A Predictor Of Adverse Birth Outcomes: Evidence From State Vital Statistics Data, Dejun Su, Kaeli Samson, Ashvita Garg, Corrine Hanson, Ann L. Anderson Berry, Ge Lin Kan, Ming Qu

School of Public Health Faculty Research

One of the most important predictors of preterm births (PTBs) or low-birth-weight births (LBWBs) is whether a mother has had a history of these birth outcomes. This study examined how different characterizations of birth history (e.g., any previous incidence of PTBs or LBWBs, immediate previous birth that was preterm or of low birth weight, and number of previous PTBs or LBWBs) were associated with PTBs or LBWBs. Based on birth records (n = 98,776) reported to the vital statistics electronic registration system in Nebraska from 2005 to 2014, mothers with a history of PTBs or LBWBs were more likely to …