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

Terson-Like Syndrome Associated With Familial Retinal Arteriolar Tortuosity (Frat) And A Spontaneous Spinal Hemorrhage, Peter Maduka, David R. Lally

Rowan-Virtua Research Day

Background: Familial retinal arteriolar tortuosity (fRAT) is an autosomal dominant disorder that is characterized by tortuosity of the second and third order retinal arterioles in the macular and peripapillary areas. The genetics of fRAT are incompletely understood but have been associated with a missense mutation in the COL4A1 gene in some cases. fRAT is not typically associated with visual loss and prognosis is good. However, the tortuous arterioles can bleed, causing intraretinal, preretinal, and/or subretinal hemorrhages.

Objective: To describe a case of Terson-like syndrome associated with familial retinal arteriolar tortuosity (fRAT) in the setting of spontaneous spinal hemorrhage.

Results: A …

Hippocampal Connectivity In Parkinson's Disease, Landis Llewelyn

Honors Theses

Background: This thesis was conducted in order to investigate possible connections between functional connectivity of the hippocampus in individuals who have Parkinson’s disease.

Methods: The MRI images, the clinical data, and the demographic data of 93 individuals with PD and 18 individuals without PD were obtained from the Parkinson's Progression Markers Initiative. Resting-state fMRI data from a group of PD patients was compared to a control group of non-PD patients by using previously published methods with FMRIB Software Library (FSL) as well as Analysis of Functional Neuroimages (AFNI).

Results: Compared to the control (non-PD) group, results bilaterally showed lesser connectivity …

Use Of Antisense Oligonucleotides To Target Notch2 In Mouse Chondrocytes, Gabrielle Viviana Lanza

Honors Scholar Theses

NOTCH2 is a transmembrane receptor that is part of the Notch receptor family, known for controlling cell differentiation and function. Notch receptors play a crucial role in skeletal development and bone homeostasis. Hajdu Cheney Syndrome (HCS) is a rare monogenic disorder affecting the skeleton caused by a gain-of-function mutation in NOTCH2. Antisense oligonucleotides (ASO) are sequence-specific single-stranded nucleic acids that bind to target mRNA and initiate mRNA degradation. While previous work has explored the role of Notch2 ASOs in osteoblasts and osteoclasts, this paper explores the role of Notch2 and Notch2 ASOs in cells of cartilage tissue. The effect of …

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 …

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, …

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 …

Case Report: A Hard Cyst To Swallow, Anjalee Choudhury, Joshua Wood, Kristan Diaz-Rios, Jyothi Swarup

School of Medicine Publications

One day old neonate was born at 37 weeks gestation to a 41-year-old Gravida 5 Para 5 born via uncomplicated caesarean section. A physical exam of the newborn had unremarkable findings except for minor skin tags on the neck and a cleft palate.

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 …

An Adult With A Remnant Urachus Anomaly Diagnosed In The Emergency Department., Alan Lucerna, James Lee, James Espinosa, Risha Hertz, Victor Scali

Rowan-Virtua School of Osteopathic Medicine Departmental Research

The urachus is a midline tubular structure that stretches from the apex of the bladder and connects to the umbilicus. Urachal remnants result from incomplete regression of the fetal urachus in infancy. We report the case of a 21-year-old male who presented to the emergency department with purulent drainage from his umbilicus in association with a chronic intermittent "pulling sensation" in the umbilicus and suprapubic areas. An infected urachal remnant was diagnosed and was treated with an oral antibiotic and ultimately with outpatient excision of the remnant. Such cases are rare but have the potential to progress to sepsis. In …

Abnormal Dendritic Maturation Of Developing Cortical Neurons Exposed To Corticotropin Releasing Hormone (Crh): Insights Into Effects Of Prenatal Adversity?, Megan M. Curran, Curt A. Sandman, Elyssia Poggi Davis, Laura M. Glynn, Tallie Z. Baram

Psychology Faculty Articles and Research

Corticotropin releasing hormone (CRH) produced by the hypothalamus initiates the hypothalamic- pituitary-adrenal (HPA) axis, which regulates the body's stress response. CRH levels typically are undetectable in human plasma, but during pregnancy the primate placenta synthesizes and releases large amounts of CRH into both maternal and fetal circulations. Notably, placental CRH synthesis increases in response to maternal stress signals. There is evidence that human fetal exposure to high concentrations of placental CRH is associated with behavioral consequences during infancy and into childhood, however the direct effects on of the peptide on the human brain are unknown. In this study, we used …

Role Of Biomechanical Forces In Hyperfiltration-Mediated Glomerular Injury In Congenital Anomalies Of The Kidney And Urinary Tract., Tarak Srivastava, Ganesh Thiagarajan, Uri S. Alon, Ram Sharma, Ashraf El-Meanawy, Ellen T. Mccarthy, Virginia J. Savin, Mukut Sharma

Manuscripts, Articles, Book Chapters and Other Papers

Congenital anomalies of the kidney and urinary tract (CAKUT) including solitary kidney constitute the main cause of progressive chronic kidney disease (CKD) in children. Children born with CAKUT develop signs of CKD only during adolescence and do not respond to renin-angiotensin-aldosterone system blockers. Early cellular changes underlying CKD progression to end-stage renal disease by early adulthood are not well understood. The mechanism of maladaptive hyperfiltration that occurs from loss of functional nephrons, including solitary kidney, is not clear. We re-examine the phenomenon of hyperfiltration in the context of biomechanical forces with special reference to glomerular podocytes. Capillary stretch exerts tensile …

Novel Genetic Variants Associated With Child Refractory Esophageal Stricture With Food Allergy By Exome Sequencing., Min Yang, Min Xiong, Huan Chen, Lanlan Geng, Peiyu Chen, Jing Xie, Shui Qing Ye, Ding-You Li, Sitang Gong

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Refractory esophageal stricture (RES) may be attributed to food allergy. Its etiology and pathogenesis are not fully understood. Identification of novel genetic variants associated with this disease by exome sequencing (exome-seq) may provide new mechanistic insights and new therapeutic targets.

METHODS: To identify new and novel disease-associating variants, whole-exome sequencing was performed on an Illumina NGS platform in three children with RES as well as food allergy.

RESULTS: A total of 91,024 variants were identified. By filtering out 'normal variants' against those of the 1000 Genomes Project, we identified 12,741 remaining variants which are potentially associated with RES plus …

A Rare Case Of Vascular Ring And Coarctation Of The Aorta In Association With Charge Syndrome., Jonathan B. Wagner, Joshua Q. Knowlton, Peter Pastuszko, Sanket Shah

Manuscripts, Articles, Book Chapters and Other Papers

A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring-consisting of a right aortic arch with retroesophageal brachiocephalic artery-combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution. To our knowledge, this is the 4th documented case of this exceedingly rare type of aortic arch anomaly combined with aortic arch obstruction. Moreover, it is the first confirmed case …

A Novel Compound-Heterozygous Epithelial Cell Adhesion Molecule Mutation In Tufting Enteropathy., Valentina Shakhnovich, Darrell Dinwiddie, Amber Hildreth, Thomas M. Attard, Stephen Kingsmore

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Speckle-Tracking Echocardiographic Measures Of Right Ventricular Diastolic Function Correlate With Reference Standard Measures Before And After Preload Alteration In Children., Shahryar M. Chowdhury, Suma Goudar, G Hamilton Baker, Carolyn L. Taylor, Girish S. Shirali, Mark K. Friedberg, Andreea Dragulescu, Karen S. Chessa, Luc Mertens

Manuscripts, Articles, Book Chapters and Other Papers

The accuracy of echocardiographic measures of right ventricular (RV) diastolic function has been sparsely studied. Our objective was to evaluate the correlation between echocardiographic and reference standard measures of RV diastolic function derived from micromanometer pressure analysis before and after preload alteration in children. Echocardiograms and micromanometer pressure analyses were prospectively performed before and after fluid bolus in children undergoing right heart catheterization. The isovolumic relaxation time constant (τ) and end-diastolic pressure (EDP) were measured. Conventional and speckle-tracking echocardiographic (STE) parameters of RV systolic and diastolic function were assessed. Normal saline bolus was given to increase RV EDP by 20 …

Bleeding Meckel's Diverticulum In Children: The Diagnostic Value Of Double-Balloon Enteroscopy., Lan-Lan Geng, Pei-Yu Chen, Qiang Wu, Hui-Wen Li, Ding-You Li, Min Yang, Si-Tang Gong

Manuscripts, Articles, Book Chapters and Other Papers

Background. Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract. The purpose of this study was to evaluate the diagnostic value and safety of double-balloon enteroscopy (DBE) for bleeding MD in children. Methods. We included consecutive children who were highly suspected of MD between 2012 and 2013. All patients underwent Meckel's scan. DBE was performed for patient with negative Meckel's scan. An exploratory laparoscopy was performed in children with positive Meckel's scan or DBE. Results. 42 patients met the inclusion criteria. 40 patients were confirmed to have MD by exploratory laparoscopy. Meckel's scan …

Relationship Between Hospital Procedure Volume And Complications Following Congenital Cardiac Catheterization: A Report From The Improving Pediatric And Adult Congenital Treatment (Impact) Registry., Natalie Jayaram, John A. Spertus, Michael L. O'Byrne, Paul S. Chan, Kevin F. Kennedy, Lisa Bergersen, Andrew C. Glatz

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The association between institutional volume and outcomes has been demonstrated for cardiac catheterization among adults, but less is known about this relationship for patients with congenital heart disease (CHD) undergoing cardiac catheterization.

METHODS: Within the IMPACT registry, we identified all catheterizations between January 2011 and March 2015. Hierarchical logistic regression, adjusted for patient and procedural characteristics, was used to determine the association between annual catheterization lab volume and occurrence of a major adverse event (MAE).

RESULTS: Of 56,453 catheterizations at 77 hospitals, an MAE occurred in 1014 (1.8%) of cases. In unadjusted analysis, a MAE occurred in 2.8% (123/4460) …

Parental Refusal Of Surgery In An Infant With Tricuspid Atresia., Alexander A. Kon, Angira Patel, Steven Leuthner, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

We present a case of a fetal diagnosis of tricuspid atresia (TA). The pregnant woman and her husband requested that the baby be treated with only palliative care. The cardiologist did not think it would be appropriate to withhold life-prolonging surgery once the infant was born. The neonatologist argued that outcomes for TA are similar to those for hypoplastic left heart syndrome, and the standard practice at the institution was to allow parents to choose surgery or end-of-life care for those infants. The team requested an ethics consultation to assist in determining whether forgoing life-prolonging interventions in this case would …

Assessment Of Diastolic Function In Single-Ventricle Patients After The Fontan Procedure., Renee Margossian, Lynn A. Sleeper, Gail D. Pearson, Piers C. Barker, Luc Mertens, Michael D. Quartermain, Jason T. Su, Girish S. Shirali, Shan Chen, Steven D. Colan, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Patients with functional single ventricles after the Fontan procedure have abnormal cardiac mechanics. The aims of this study were to determine factors that influence diastolic function and to describe associations of diastolic function with current clinical status.

METHODS: Echocardiograms were obtained as part of the Pediatric Heart Network Fontan Cross-Sectional Study. Diastolic function grade (DFG) was assessed as normal (grade 0), impaired relaxation (grade 1), pseudonymization (grade 2), or restrictive (grade 3). Studies were also classified dichotomously (restrictive pattern present or absent). Relationships between DFG and pre-Fontan variables (e.g., ventricular morphology, age at Fontan, history of volume-unloading surgery) and …

Early Cumulative Supplemental Oxygen Predicts Bronchopulmonary Dysplasia In High Risk Extremely Low Gestational Age Newborns., Katherine C. Wai, Michael A. Kohn, Roberta A. Ballard, William E. Truog, Dennis M. Black, Jeanette M. Asselin, Philip L. Ballard, Elizabeth E. Rogers, Roberta L. Keller, Trial Of Late Surfactant (Tolsurf) Study Group

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To assess the prognostic accuracy of early cumulative supplemental oxygen (CSO) exposure for prediction of bronchopulmonary dysplasia (BPD) or death, and to evaluate the independent association of CSO with BPD or death.

STUDY DESIGN: We performed a secondary analysis of the Trial of Late Surfactant, which enrolled 511 infants born at ≤28 weeks gestational age who were mechanically ventilated at 7-14 days of life. Our primary outcome was BPD or death at 36 weeks postmenstrual age, as determined by a physiological oxygen/flow challenge. Average daily supplemental oxygen (fraction of inspired oxygen - 0.21) was calculated. CSO was calculated as …

Validation Of Noninvasive Measures Of Left Ventricular Mechanics In Children: A Simultaneous Echocardiographic And Conductance Catheterization Study., Shahryar M. Chowdhury, Ryan J. Butts, Carolyn L. Taylor, Varsha M. Bandisode, Karen S. Chessa, Anthony M. Hlavacek, Girish S. Shirali, G Hamilton Baker

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The accuracy of echocardiography in evaluating left ventricular contractility has not been validated in children. The objective of this study was to compare echocardiographic measures of contractility with those derived from pressure-volume loop (PVL) analysis in children.

METHODS: Patients with relatively normal loading conditions undergoing routine left heart catheterization were prospectively enrolled. PVLs were obtained via conductance catheters. The gold-standard measure of contractility, end-systolic elastance (Ees), was obtained via balloon occlusion of one or both vena cavae. Echocardiograms were performed immediately after PVL analysis under the same anesthetic conditions. Single-beat estimations of echocardiographic Ees were calculated using four different …

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 …

Renal And Cardiovascular Morbidities Associated With Apol1 Status Among African-American And Non-African-American Children With Focal Segmental Glomerulosclerosis., Robert P. Woroniecki, Derek K. Ng, Sophie Limou, Cheryl A. Winkler, Kimberly J. Reidy, Mark Mitsnefes, Matthew G. Sampson, Craig S. Wong, Bradley A. Warady, Susan L. Furth, Jeffrey B. Kopp, Frederick J. Kaskel

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: African-American (AA) children with focal segmental glomerulosclerosis (FSGS) have later onset disease that progresses more rapidly than in non-AA children. It is unclear how APOL1 genotypes contribute to kidney disease risk, progression, and cardiovascular morbidity in children.

DESIGN SETTING PARTICIPANTS AND MEASUREMENTS: We examined the prevalence of APOL1 genotypes and associated cardiovascular phenotypes among children with FSGS in the Chronic Kidney Disease in Children (CKiD) study; an ongoing multicenter prospective cohort study of children aged 1-16 years with mild to moderate kidney disease.

RESULTS: A total of 140 AA children in the CKiD study were genotyped. High …

Speckle-Tracking Echocardiographic Measures Of Right Ventricular Function Correlate With Improvement In Exercise Function After Percutaneous Pulmonary Valve Implantation., Shahryar M. Chowdhury, Ziyad M. Hijazi, John T. Fahey, John F. Rhodes, Saibal Kar, Raj Makkar, Michael Mullen, Qi-Ling Cao, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Speckle-tracking echocardiographic (STE) measures of right ventricular (RV) function appear to improve after transcatheter pulmonary valve implantation (TPVI). Measures of exercise function, such as ventilatory efficiency (the minute ventilation [VE]/carbon dioxide production [VCO2] slope), have been shown to be prognostic of mortality in patients who may require TPVI. The aim of this study was to evaluate the correlation between STE measures of RV function and changes in VE/VCO2 after TPVI.

METHODS: Speckle-tracking echocardiography and cardiopulmonary exercise testing were performed at baseline and 6 months after TPVI in 24 patients from four centers. Conventional echocardiographic measures of RV function were …

Hla-Dqa1 And Plcg2 Are Candidate Risk Loci For Childhood-Onset Steroid-Sensitive Nephrotic Syndrome., Rasheed A. Gbadegesin, Adebowale Adeyemo, Nicholas J A Webb, Larry A A. Greenbaum, Asiri Abeyagunawardena, Shenal Thalgahagoda, Arundhati Kale, Debbie Gipson, Tarak Srivastava, Jen-Jar Lin, Deepa Chand, Tracy E. Hunley, Patrick D. Brophy, Arvind Bagga, Aditi Sinha, Michelle N. Rheault, Joanna Ghali, Kathy Nicholls, Elizabeth Abraham, Halima S. Janjua, Abiodun Omoloja, Gina-Marie Barletta, Yi Cai, David D. Milford, Catherine O'Brien, Atif Awan, Vladimir Belostotsky, William E. Smoyer, Alison Homstad, Gentzon Hall, Guanghong Wu, Shashi Nagaraj, Delbert Wigfall, John Foreman, Michelle P. Winn, Mid-West Pediatric Nephrology Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Steroid-sensitive nephrotic syndrome (SSNS) accounts for >80% of cases of nephrotic syndrome in childhood. However, the etiology and pathogenesis of SSNS remain obscure. Hypothesizing that coding variation may underlie SSNS risk, we conducted an exome array association study of SSNS. We enrolled a discovery set of 363 persons (214 South Asian children with SSNS and 149 controls) and genotyped them using the Illumina HumanExome Beadchip. Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1129740, rs9273349, rs1071630, and rs1140343) were significantly associated with SSNS at or near the Bonferroni-adjusted P value for the number of single variants that were …

Oseltamivir-Warfarin Interaction In Hypoplastic Left Heart Syndrome: Case Report And Review., Jonathan B. Wagner, Susan M. Abdel-Rahman

Manuscripts, Articles, Book Chapters and Other Papers

An 8-year-old boy with hypoplastic left heart syndrome with a previous history of thrombosis within the inferior vena cava receiving stable warfarin dosing for anticoagulation was diagnosed with influenza B. He was subsequently placed on oseltamivir therapy according to the Centers for Disease Control and Prevention clinical practice guidelines. During the hospitalization, his international normalized ratio steadily increased to supratherapeutic levels and returned to baseline after discontinuation of oseltamivir therapy. This case represents a drug-drug interaction that has not been previously reported in children or adolescents. An extensive review of the pharmacokinetic and pharmacodynamic literature did not uncover a definitive …

Rare Presentation Of Pancreatitis Secondary To Intussusception Of Duodenal Duplication Cyst, A Pediatric Case Report, Valentina Shakhnovich, Jennifer Colombo, Amita A. Desai, Shawn D. St Peter

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Variation In Feeding Practices Following The Norwood Procedure., Linda M. Lambert, Nancy A. Pike, Barbara Medoff-Cooper, Victor Zak, Victoria L. Pemberton, Lisa Young-Borkowski, Martha L. Clabby, Kathryn N. Nelson, Richard G. Ohye, Bethany Trainor, Karen Uzark, Nancy Rudd, Louise Bannister, Rosalind Korsin, David S. Cooper, Christian Pizarro, Sinai C. Zyblewski, Bronwyn H. Bartle, Richard V. Williams, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: To assess variation in feeding practice at hospital discharge after the Norwood procedure, factors associated with tube feeding, and associations among site, feeding mode, and growth before stage II.

STUDY DESIGN: From May 2005 to July 2008, 555 subjects from 15 centers were enrolled in the Pediatric Heart Network Single Ventricle Reconstruction Trial; 432 survivors with feeding data at hospital discharge after the Norwood procedure were analyzed.

RESULTS: Demographic and clinical variables were compared among 4 feeding modes: oral only (n = 140), oral/tube (n = 195), nasogastric tube (N-tube) only (n = 40), and gastrostomy tube (G-tube) only …

Fluid Flow Shear Stress Over Podocytes Is Increased In The Solitary Kidney., Tarak Srivastava, Gianni E. Celsi, Mukut Sharma, Hongying Dai, Ellen T. Mccarthy, Melanie Ruiz, Patricia A. Cudmore, Uri S. Alon, Ram Sharma, Virginia A. Savin

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Glomerular hyperfiltration is emerging as the key risk factor for progression of chronic kidney disease (CKD). Podocytes are exposed to fluid flow shear stress (FFSS) caused by the flow of ultrafiltrate within Bowman's space. The mechanism of hyperfiltration-induced podocyte injury is not clear. We postulated that glomerular hyperfiltration in solitary kidney increases FFSS over podocytes.

METHODS: Infant Sprague-Dawley rats at 5 days of age and C57BL/6J 14-week-old adult mice underwent unilateral nephrectomy. Micropuncture and morphological studies were then performed on 20- and 60-day-old rats. FFSS over podocytes in uninephrectomized rats and mice was calculated using the recently published equation …