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Pediatrics Faculty Publications

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Full-Text Articles in Pediatrics

How Complicated Can It Be? The Link Between Apol1 Risk Variants And Lipoprotein Heterogeneity In Kidney And Cardiovascular Diseases., Chien-An A Hu, Patricio E Ray Apr 2016

How Complicated Can It Be? The Link Between Apol1 Risk Variants And Lipoprotein Heterogeneity In Kidney And Cardiovascular Diseases., Chien-An A Hu, Patricio E Ray

Pediatrics Faculty Publications

The beginning of human apolipoprotein L1 study (gene: APOL1; protein: ApoL1) originated from the identification of circulating ApoL1 as an interacting protein of ApoA1 and a minor component of high-density lipoprotein subfraction 3 (HDL3) in 1997 [1]. In the past 18 years, ApoL1 has been investigated in the context of complex human diseases such as African sleeping sickness, schizophrenia, host innate immunity, cancer, hyperlipidemia, cardiovascular diseases, stroke and type 2 diabetes [2–10]. A major breakthrough, however, was the documentation of two haplotypes of APOL1, harboring three coding-sequence mutations as risk variants associated with non-diabetic …


Comparison Of Two Commercial Dna Extraction Kits For The Analysis Of Nasopharyngeal Bacterial Communities, Marcos Pérez-Losada, Keith Crandall, Robert J. Freishtat Apr 2016

Comparison Of Two Commercial Dna Extraction Kits For The Analysis Of Nasopharyngeal Bacterial Communities, Marcos Pérez-Losada, Keith Crandall, Robert J. Freishtat

Pediatrics Faculty Publications

Characterization of microbial communities via next-generation sequencing (NGS) requires an extraction ofmicrobial DNA. Methodological differences in DNA extraction protocols may bias results and complicate inter-study comparisons. Here we compare the effect of two commonly used commercial kits (Norgen and Qiagen)for the extraction of total DNA on estimatingnasopharyngeal microbiome diversity. The nasopharynxis a reservoir for pathogens associated with respiratory illnesses and a key player in understandingairway microbial dynamics.
Total DNA from nasal washes corresponding to 30 asthmatic children was extracted using theQiagenQIAamp DNA and NorgenRNA/DNA Purification kits and analyzed via IlluminaMiSeq16S rRNA V4 ampliconsequencing. The Norgen samples included more sequence reads …


Perspectives On Pediatric Pain, Donald E. Greydanus, Dilip R. Patel, Colleen Dodich, Hatim A. Omar, Joav Merrick Apr 2016

Perspectives On Pediatric Pain, Donald E. Greydanus, Dilip R. Patel, Colleen Dodich, Hatim A. Omar, Joav Merrick

Pediatrics Faculty Publications

No abstract provided.


Resident Training Curriculum In Adolescent Depression And Suicide Screening, Angela Stanley, Gayathri Chelvakumar, Paula Cody, Mandakini Sadhir, Melodee Nugent, Raymond Hoffmann, Pippa Simpson Mar 2016

Resident Training Curriculum In Adolescent Depression And Suicide Screening, Angela Stanley, Gayathri Chelvakumar, Paula Cody, Mandakini Sadhir, Melodee Nugent, Raymond Hoffmann, Pippa Simpson

Pediatrics Faculty Publications

Introduction: Routine screening of adolescents for depression and suicide risk is now considered best clinical practice. However, due to a lack of training, many physicians do not engage in screening. The goal of this curriculum is to improve learner knowledge of and comfort in adolescent depression and suicide risk assessment and management. Methods: The didactic session typically takes 60-90 minutes to complete. In addition to a teaching PowerPoint that provides instruction in both the assessment and management of adolescent depression and suicide risk, the curriculum also includes a suicide assessment and management protocol. This protocol outlines an algorithm that assists …


Hydroxycarbamide Versus Chronic Transfusion For Maintenance Of Transcranial Doppler Flow Velocities In Children With Sickle Cell Anaemia-Tcd With Transfusions Changing To Hydroxyurea (Twitch): A Multicentre, Open-Label, Phase 3, Non-Inferiority Trial., Russell E Ware, Barry R Davis, William H Schultz, R Clark Brown, Banu Aygun, Sharada Sarnaik, Lori Luchtman-Jones, +Several Additional Authors Feb 2016

Hydroxycarbamide Versus Chronic Transfusion For Maintenance Of Transcranial Doppler Flow Velocities In Children With Sickle Cell Anaemia-Tcd With Transfusions Changing To Hydroxyurea (Twitch): A Multicentre, Open-Label, Phase 3, Non-Inferiority Trial., Russell E Ware, Barry R Davis, William H Schultz, R Clark Brown, Banu Aygun, Sharada Sarnaik, Lori Luchtman-Jones, +Several Additional Authors

Pediatrics Faculty Publications

BACKGROUND: For children with sickle cell anaemia and high transcranial doppler (TCD) flow velocities, regular blood transfusions can effectively prevent primary stroke, but must be continued indefinitely. The efficacy of hydroxycarbamide (hydroxyurea) in this setting is unknown; we performed the TWiTCH trial to compare hydroxyurea with standard transfusions.

METHODS: TWiTCH was a multicentre, phase 3, randomised, open-label, non-inferiority trial done at 26 paediatric hospitals and health centres in the USA and Canada. We enrolled children with sickle cell anaemia who were aged 4-16 years and had abnormal TCD flow velocities (≥ 200 cm/s) but no severe vasculopathy. After screening, eligible …


Dnah6 And Its Interactions With Pcd Genes In Heterotaxy And Primary Ciliary Dyskinesia., You Li, Hisato Yagi, Ezenwa Obi Onuoha, Rama Rao Damerla, Richard Francis, Yoshiyuki Furutani, Iman Sami, Linda Leatherbury, +13 Additional Authors Feb 2016

Dnah6 And Its Interactions With Pcd Genes In Heterotaxy And Primary Ciliary Dyskinesia., You Li, Hisato Yagi, Ezenwa Obi Onuoha, Rama Rao Damerla, Richard Francis, Yoshiyuki Furutani, Iman Sami, Linda Leatherbury, +13 Additional Authors

Pediatrics Faculty Publications

Heterotaxy, a birth defect involving left-right patterning defects, and primary ciliary dyskinesia (PCD), a sinopulmonary disease with dyskinetic/immotile cilia in the airway are seemingly disparate diseases. However, they have an overlapping genetic etiology involving mutations in cilia genes, a reflection of the common requirement for motile cilia in left-right patterning and airway clearance. While PCD is a monogenic recessive disorder, heterotaxy has a more complex, largely non-monogenic etiology. In this study, we show mutations in the novel dynein gene DNAH6 can cause heterotaxy and ciliary dysfunction similar to PCD. We provide the first evidence that trans-heterozygous interactions between DNAH6 and …


Unbalanced But Satisfied?, Asha N. Shenoi Jan 2016

Unbalanced But Satisfied?, Asha N. Shenoi

Pediatrics Faculty Publications

No abstract provided.


Two Sampling Methods Yield Distinct Microbial Signatures In The Nasopharynges Of Asthmatic Children., Marcos Pérez-Losada, Keith A. Crandall, Robert J. Freishtat Jan 2016

Two Sampling Methods Yield Distinct Microbial Signatures In The Nasopharynges Of Asthmatic Children., Marcos Pérez-Losada, Keith A. Crandall, Robert J. Freishtat

Pediatrics Faculty Publications

Background

The nasopharynx is a reservoir for pathogens associated with respiratory illnesses, such as asthma. Next-generation sequencing (NGS) has been used to characterize the nasopharyngeal microbiome during health and disease. Most studies so far have surveyed the nasopharynx as a whole; however, less is known about spatial variation (biogeography) in nasal microenvironments and how sampling techniques may capture that microbial diversity.

Findings

We used targeted 16S rRNA MiSeq sequencing and two different sampling strategies [nasal washes (NW) and nasal brushes (NB)] to characterize the nasopharyngeal microbiota in 30 asthmatic children. Nasal brushing is more abrasive than nasal washing and targeted …


Different Vancomycin Immunoassays Contribute To The Variability In Vancomycin Trough Measurements In Neonates, Janko Samardzic, Anne Smits, Isabel Spriet, Ivan Soldatovic, Andrew Atkinson, Milica Bajcetic, John N. Van Den Anker, Karel Allegaert Jan 2016

Different Vancomycin Immunoassays Contribute To The Variability In Vancomycin Trough Measurements In Neonates, Janko Samardzic, Anne Smits, Isabel Spriet, Ivan Soldatovic, Andrew Atkinson, Milica Bajcetic, John N. Van Den Anker, Karel Allegaert

Pediatrics Faculty Publications

Substantial interassay variability (up to 20%) has been described for vancomycin immunoassays in adults, but the impact of neonatal matrix is difficult to quantify because of blood volume constraints in neonates. However, we provide circumstantial evidence for a similar extent of variability. Using the same vancomycin dosing regimens and confirming similarity in clinical characteristics, vancomycin trough concentrations measured by PETINIA (2011-2012, n = 400) were 20% lower and the mean difference was 1.93 mg/L compared to COBAS (2012–2014, n =352 ) measurements. The impact of vancomycin immunoassays in neonatal matrix was hereby suggested, supporting a switch to more advanced techniques …


Human Metapneumovirus Infection Is Associated With Severe Respiratory Disease In Preschool Children With History Of Prematurity., Krishna Pancham, Iman Sami, Geovanny F. Perez, Shehlanoor Huseni, Bassem Kurdi, Mary C. Rose, Carlos E. Rodriguez-Martinez, Gustavo Nino Jan 2016

Human Metapneumovirus Infection Is Associated With Severe Respiratory Disease In Preschool Children With History Of Prematurity., Krishna Pancham, Iman Sami, Geovanny F. Perez, Shehlanoor Huseni, Bassem Kurdi, Mary C. Rose, Carlos E. Rodriguez-Martinez, Gustavo Nino

Pediatrics Faculty Publications

Background

Human metapneumovirus (HMPV) is a recently discovered respiratory pathogen of the family Paramyxoviridae, the same family as that of respiratory syncytial virus (RSV). Premature children are at high risk of severe RSV infections, however, it is unclear whether HMPV infection is more severe in hospitalized children with a history of severe prematurity.

Methods

We conducted a retrospective analysis of the clinical respiratory presentation of all polymerase chain reaction-confirmed HMPV infections in preschool-age children (≤5 years) with and without history of severe prematurity (<32 weeks gestation). Respiratory distress scores were developed to examine the clinical severity of HMPV infections. Demographic and clinical variables were obtained from reviewing electronic medical records.

Results

A total of 571 preschool children were identified using polymerase chain reaction-confirmed viral respiratory tract …


Dyslipidemia And Food Security In Low-Income Us Adolescents: National Health And Nutrition Examination Survey, 2003-2010., June M Tester, Barbara A Laraia, Cindy W Leung, Michele L. Mietus-Snyder Jan 2016

Dyslipidemia And Food Security In Low-Income Us Adolescents: National Health And Nutrition Examination Survey, 2003-2010., June M Tester, Barbara A Laraia, Cindy W Leung, Michele L. Mietus-Snyder

Pediatrics Faculty Publications

INTRODUCTION: Low levels of food security are associated with dyslipidemia and chronic disease in adults, particularly in women. There is a gap in knowledge about the relationship between food security among youth and dyslipidemia and chronic disease. We investigated the relationship between food security status and dyslipidemia among low-income adolescents.

METHODS: We analyzed data from adolescents aged 12 to 18 years (N = 1,072) from households with incomes at or below 200% of the federal poverty level from the National Health and Nutrition Examination Survey (NHANES) 2003-2010. We used logistic regression to examine the relationship between household food security status …


Improved Workflow For Quantification Of Left Ventricular Volumes And Mass Using Free-Breathing Motion Corrected Cine Imaging., Russell Cross, Laura Olivieri, Kendall O'Brien, Peter Kellman, Hui Xue, Michael Hansen Jan 2016

Improved Workflow For Quantification Of Left Ventricular Volumes And Mass Using Free-Breathing Motion Corrected Cine Imaging., Russell Cross, Laura Olivieri, Kendall O'Brien, Peter Kellman, Hui Xue, Michael Hansen

Pediatrics Faculty Publications

BACKGROUND: Traditional cine imaging for cardiac functional assessment requires breath-holding, which can be problematic in some situations. Free-breathing techniques have relied on multiple averages or real-time imaging, producing images that can be spatially and/or temporally blurred. To overcome this, methods have been developed to acquire real-time images over multiple cardiac cycles, which are subsequently motion corrected and reformatted to yield a single image series displaying one cardiac cycle with high temporal and spatial resolution. Application of these algorithms has required significant additional reconstruction time. The use of distributed computing was recently proposed as a way to improve clinical workflow with …


Virtual Reality For Pediatric Sedation: A Randomized Controlled Trial Using Simulation., Pavan P. Zaveri, Aisha B. Davis, Karen J O'Connell, Emily Willner, Dana A Aronson Schinasi, Mary Ottolini Jan 2016

Virtual Reality For Pediatric Sedation: A Randomized Controlled Trial Using Simulation., Pavan P. Zaveri, Aisha B. Davis, Karen J O'Connell, Emily Willner, Dana A Aronson Schinasi, Mary Ottolini

Pediatrics Faculty Publications

INTRODUCTION: Team training for procedural sedation for pediatric residents has traditionally consisted of didactic presentations and simulated scenarios using high-fidelity mannequins. We assessed the effectiveness of a virtual reality module in teaching preparation for and management of sedation for procedures.

METHODS: After developing a virtual reality environment in Second Life® (Linden Lab, San Francisco, CA) where providers perform and recover patients from procedural sedation, we conducted a randomized controlled trial to assess the effectiveness of the virtual reality module versus a traditional web-based educational module. A 20 question pre- and post-test was administered to assess knowledge change. All subjects participated …


Discovery Of Metabolic Biomarkers For Duchenne Muscular Dystrophy Within A Natural History Study., Simina M. Boca, Maki Nishida, Michael Harris, Shruti Rao, Amrita Cheema, Kirandeep Gill, Haeri Seol, Lauren P. Morgenroth, Erik Henricson, Craig M. Mcdonald, Jean K. Mah, Paula R. Clemens, Eric P. Hoffman, Yetrib Hathout, Subha Madhavan Jan 2016

Discovery Of Metabolic Biomarkers For Duchenne Muscular Dystrophy Within A Natural History Study., Simina M. Boca, Maki Nishida, Michael Harris, Shruti Rao, Amrita Cheema, Kirandeep Gill, Haeri Seol, Lauren P. Morgenroth, Erik Henricson, Craig M. Mcdonald, Jean K. Mah, Paula R. Clemens, Eric P. Hoffman, Yetrib Hathout, Subha Madhavan

Pediatrics Faculty Publications

Serum metabolite profiling in Duchenne muscular dystrophy (DMD) may enable discovery of valuable molecular markers for disease progression and treatment response. Serum samples from 51 DMD patients from a natural history study and 22 age-matched healthy volunteers were profiled using liquid chromatography coupled to mass spectrometry (LC-MS) for discovery of novel circulating serum metabolites associated with DMD. Fourteen metabolites were found significantly altered (1% false discovery rate) in their levels between DMD patients and healthy controls while adjusting for age and study site and allowing for an interaction between disease status and age. Increased metabolites included arginine, creatine and unknown …


Examination Of Reticulocytosis Among Chronically Transfused Children With Sickle Cell Anemia., Megha Kaushal, Colleen Byrnes, Zarir Khademian, Natalie Duncan, Naomi L. Luban, Jeffery L Miller, Ross Fasano, Emily R. Meier Jan 2016

Examination Of Reticulocytosis Among Chronically Transfused Children With Sickle Cell Anemia., Megha Kaushal, Colleen Byrnes, Zarir Khademian, Natalie Duncan, Naomi L. Luban, Jeffery L Miller, Ross Fasano, Emily R. Meier

Pediatrics Faculty Publications

Sickle cell anemia (SCA) is an inherited hemolytic anemia with compensatory reticulocytosis. Recent studies have shown that increased levels of reticulocytosis during infancy are associated with increased hospitalizations for SCA sequelae as well as cerebrovascular pathologies. In this study, absolute reticulocyte counts (ARC) measured prior to transfusion were analysed among a cohort of 29 pediatric SCA patients receiving chronic transfusion therapy (CTT) for primary and secondary stroke prevention. A cross-sectional flow cytometric analysis of the reticulocyte phenotype was also performed. Mean duration of CTT was 3.1 ± 2.6 years. Fifteen subjects with magnetic resonance angiography (MRA) -vasculopathy had significantly higher …


Proteomic Characterization Of Middle Ear Fluid Confirms Neutrophil Extracellular Traps As A Predominant Innate Immune Response In Chronic Otitis Media., Stephanie Val, Marian Poley, Kristy Brown, Rachel Choi, Stephanie Jeong, Annie Colberg-Poley, Mary C. Rose, Karuna C Panchapakesan, Joseph C. Devaney, Marcos Perez-Losada, Diego Preciado Jan 2016

Proteomic Characterization Of Middle Ear Fluid Confirms Neutrophil Extracellular Traps As A Predominant Innate Immune Response In Chronic Otitis Media., Stephanie Val, Marian Poley, Kristy Brown, Rachel Choi, Stephanie Jeong, Annie Colberg-Poley, Mary C. Rose, Karuna C Panchapakesan, Joseph C. Devaney, Marcos Perez-Losada, Diego Preciado

Pediatrics Faculty Publications

BACKGROUND: Chronic Otitis Media (COM) is characterized by middle ear effusion (MEE) and conductive hearing loss. MEE reflect mucus hypersecretion, but global proteomic profiling of the mucosal components are limited.

OBJECTIVE: This study aimed at characterizing the proteome of MEEs from children with COM with the goal of elucidating important innate immune responses.

METHOD: MEEs were collected from children (n = 49) with COM undergoing myringotomy. Mass spectrometry was employed for proteomic profiling in nine samples. Independent samples were further analyzed by cytokine multiplex assay, immunoblotting, neutrophil elastase activity, next generation DNA sequencing, and/or immunofluorescence analysis.

RESULTS: 109 unique and …


Circulating Fibroblast Growth Factor-2, Hiv-Tat, And Vascular Endothelial Cell Growth Factor-A In Hiv-Infected Children With Renal Disease Activate Rho-A And Src In Cultured Renal Endothelial Cells., Jharna R Das, J Silvio Gutkind, Patricio E. Ray Jan 2016

Circulating Fibroblast Growth Factor-2, Hiv-Tat, And Vascular Endothelial Cell Growth Factor-A In Hiv-Infected Children With Renal Disease Activate Rho-A And Src In Cultured Renal Endothelial Cells., Jharna R Das, J Silvio Gutkind, Patricio E. Ray

Pediatrics Faculty Publications

Renal endothelial cells (REc) are the first target of HIV-1 in the kidney. The integrity of REc is maintained at least partially by heparin binding growth factors that bind to heparan sulfate proteoglycans located on their cell surface. However, previous studies showed that the accumulation of two heparin-binding growth factors, Vascular Endothelial Cell Growth Factor-A (VEGF-A) and Fibroblast Growth Factor-2 (FGF-2), in combination with the viral protein Tat, can precipitate the progression of HIV-renal diseases. Nonetheless, very little is known about how these factors affect the behavior of REc in HIV+ children. We carried out this study to determine how …


Do 6-8 Year Old Girls With Central Precocious Puberty Need Routine Brain Imaging?, Paul B. Kaplowitz Jan 2016

Do 6-8 Year Old Girls With Central Precocious Puberty Need Routine Brain Imaging?, Paul B. Kaplowitz

Pediatrics Faculty Publications

BACKGROUND: The subject of whether all girls with central precocious puberty (CPP) require brain imaging is controversial.

FINDINGS: A review of the major papers concerning this topic published since 1994 was conducted looking primarily at the frequency of occult intracranial lesions, particularly brain tumors, in girls with CPP. While CNS abnormalities are frequently noted (8-15 %), the proportion of previously unknown findings requiring intervention in 6-8 year old girls is very small, in the range of 0-2 %.

CONCLUSION: While MRI should still be done in boys and in girls with onset of puberty younger than age 6 and in …


Anticipated Resource Utilization For Injury Versus Non-Injury Pediatric Visits To Emergency Departments, Mark R. Zonfrillo, Michelle L. Macy, Lawrence J. Cook, Tomohiko Funai, Rachel Stanley, James M. Chamberlain, For The Pediatric Emergency Care Applied Research Network (Pecarn) Jan 2016

Anticipated Resource Utilization For Injury Versus Non-Injury Pediatric Visits To Emergency Departments, Mark R. Zonfrillo, Michelle L. Macy, Lawrence J. Cook, Tomohiko Funai, Rachel Stanley, James M. Chamberlain, For The Pediatric Emergency Care Applied Research Network (Pecarn)

Pediatrics Faculty Publications

Background

Childhood injuries are increasingly treated in emergency departments (EDs) but the relationship between injury severity and ED resource utilization has not been evaluated. The objective of this study was to compare resource utilization for pediatric injury-related ED visits across injury-severity levels and with non-injury visits, using standardized, validated scales.

Methods

A retrospective analysis of 2004-2008 ED visits from the Pediatric Emergency Care Applied Research Network Core Data Project. Maximum Abbreviated Injury Scale severity (MAIS) and Severity Classification System (SCS) scores were calculated and compared. MAIS and SCS are ordinal scales from 1 (minor injury) to 6, and 1 (low …


Molecular And Behavioral Profiling Of Dbx1-Derived Neurons In The Arcuate, Lateral And Ventromedial Hypothalamic Nuclei., Katie Sokolowski, Tuyen Tran, Shigeyuki Esumi, Yasmin Kamal, Livio Oboti, Julieta Lischinsky, Meredith Goodrich, Andrew Lam, Margaret Carter, Yasushi Nakagawa, Joshua G. Corbin Jan 2016

Molecular And Behavioral Profiling Of Dbx1-Derived Neurons In The Arcuate, Lateral And Ventromedial Hypothalamic Nuclei., Katie Sokolowski, Tuyen Tran, Shigeyuki Esumi, Yasmin Kamal, Livio Oboti, Julieta Lischinsky, Meredith Goodrich, Andrew Lam, Margaret Carter, Yasushi Nakagawa, Joshua G. Corbin

Pediatrics Faculty Publications

BACKGROUND: Neurons in the hypothalamus function to regulate the state of the animal during both learned and innate behaviors, and alterations in hypothalamic development may contribute to pathological conditions such as anxiety, depression or obesity. Despite many studies of hypothalamic development and function, the link between embryonic development and innate behaviors remains unexplored. Here, focusing on the embryonically expressed homeodomain-containing gene Developing Brain Homeobox 1 (Dbx1), we explored the relationship between embryonic lineage, post-natal neuronal identity and lineage-specific responses to innate cues. We found that Dbx1 is widely expressed across multiple developing hypothalamic subdomains. Using standard and inducible fate-mapping to …


"When Should I Tell?": Perspectives On Disclosure To Their Children Among Parents With Perinatally Acquired Hiv., Cynthia D Fair, Hannah Allen, Constance Trexler, Janet Osherow, Lawrence D'Angelo Jan 2016

"When Should I Tell?": Perspectives On Disclosure To Their Children Among Parents With Perinatally Acquired Hiv., Cynthia D Fair, Hannah Allen, Constance Trexler, Janet Osherow, Lawrence D'Angelo

Pediatrics Faculty Publications

Adolescents and young adults (AYA) with perinatally acquired HIV (PHIV) engage in developmentally expected behaviors, such as establishing relationships and having children. Previous research has focused on pregnancy management/outcomes of AYA with PHIV. However, little research has focused on the parenting experiences of this emerging cohort and on their views of disclosure to their offspring. This article examines data from a pilot study of five AYA parents with PHIV on disclosure to their child(ren) (n = 7, 6 HIV-negative). Disclosure of their own HIV status to their children is on the minds of parents with PHIV. However, few currently have …


The Clinical Outcome Study For Dysferlinopathy, Elizabeth Harris, Catherine Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Avital Cnaan, The Jain Cos Consortium Jan 2016

The Clinical Outcome Study For Dysferlinopathy, Elizabeth Harris, Catherine Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Avital Cnaan, The Jain Cos Consortium

Pediatrics Faculty Publications

Objective: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.

Methods: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.

Results: There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi …


Incidence Of X And Y Chromosomal Aneuploidy In A Large Child Bearing Population., Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, Patrick Lawson, Zachary Demko, Susan M Zneimer, Kirsten J Curnow, Susan Gross, Andrea Gropman Jan 2016

Incidence Of X And Y Chromosomal Aneuploidy In A Large Child Bearing Population., Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, Patrick Lawson, Zachary Demko, Susan M Zneimer, Kirsten J Curnow, Susan Gross, Andrea Gropman

Pediatrics Faculty Publications

BACKGROUND: X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear.

METHODS: This retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age).

RESULTS: From 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of …


Safe Infant Sleep Interventions: What Is The Evidence For Successful Behavior Change?, Rachel Y. Moon, Fern R Hauck, Eve R Colson Jan 2016

Safe Infant Sleep Interventions: What Is The Evidence For Successful Behavior Change?, Rachel Y. Moon, Fern R Hauck, Eve R Colson

Pediatrics Faculty Publications

Sudden infant death syndrome (SIDS) and other sleep-related infant deaths, such as accidental suffocation and strangulation in bed and ill-defined deaths, account for >4000 deaths annually in the USA. Evidence-based recommendations for reducing the risk of sleep-related deaths have been published, but some caregivers resist adoption of these recommendations. Multiple interventions to change infant sleep-related practices of parents and professionals have been implemented. In this review, we will discuss illustrative examples of safe infant sleep interventions and evidence of their effectiveness. Facilitators of and barriers to change, as well as the limitations of the data currently available for these interventions, …


Age-Related Effect Of Viral-Induced Wheezing In Severe Prematurity, Geovanny F. Perez, Amisha Jain, Bassem Kurdi, Rosemary Megalaa, Krishna Pancham, Shehlanoor Huseni, Natalia Isaza, Carlos E. Rodriguez-Martinez, Mary C. Rose, Dinesh Pillai, Gustavo Nino Jan 2016

Age-Related Effect Of Viral-Induced Wheezing In Severe Prematurity, Geovanny F. Perez, Amisha Jain, Bassem Kurdi, Rosemary Megalaa, Krishna Pancham, Shehlanoor Huseni, Natalia Isaza, Carlos E. Rodriguez-Martinez, Mary C. Rose, Dinesh Pillai, Gustavo Nino

Pediatrics Faculty Publications

Premature children are prone to severe viral respiratory infections in early life, but the age at which susceptibility peaks and disappears for each pathogen is unclear.

Methods: A retrospective analysis was performed of the age distribution and clinical features of acute viral respiratory infections in full-term and premature children, aged zero to seven years.

Results: The study comprised of a total of 630 hospitalizations (n = 580 children). Sixty-seven percent of these hospitalizations occurred in children born full-term (>37 weeks), 12% in preterm (32–37 weeks) and 21% in severely premature children (<32 weeks). The most common viruses identified were rhinovirus (RV; 60%) and respiratory syncytial virus (RSV; 17%). Age-distribution analysis of each virus identified that severely premature children had a higher relative frequency of RV and RSV in their first three years, relative to preterm or full-term children. Additionally, the probability of RV- or RSV-induced wheezing was higher overall in severely premature children less than three years old.

Conclusions: Our results indicate that the vulnerability …


Examination Of Reticulocytosis Among Chronically Transfused Children With Sickle Cell Anemia., Megha Kaushal, Colleen Byrnes, Zarir Khademian, Natalie Duncan, Naomi L.C. Luban, Jeffery L Miller, Ross M. Fasano, Emily Riehm Meier Jan 2016

Examination Of Reticulocytosis Among Chronically Transfused Children With Sickle Cell Anemia., Megha Kaushal, Colleen Byrnes, Zarir Khademian, Natalie Duncan, Naomi L.C. Luban, Jeffery L Miller, Ross M. Fasano, Emily Riehm Meier

Pediatrics Faculty Publications

Sickle cell anemia (SCA) is an inherited hemolytic anemia with compensatory reticulocytosis. Recent studies have shown that increased levels of reticulocytosis during infancy are associated with increased hospitalizations for SCA sequelae as well as cerebrovascular pathologies. In this study, absolute reticulocyte counts (ARC) measured prior to transfusion were analysed among a cohort of 29 pediatric SCA patients receiving chronic transfusion therapy (CTT) for primary and secondary stroke prevention. A cross-sectional flow cytometric analysis of the reticulocyte phenotype was also performed. Mean duration of CTT was 3.1 ± 2.6 years. Fifteen subjects with magnetic resonance angiography (MRA) -vasculopathy had significantly higher …


Supersilac Quantitative Proteome Profiling Of Murine Middle Ear Epithelial Cell Remodeling With Nthi, Stephanie Val, Katelyn Burgett, Kristy J. Brown, Diego A. Preciado Jan 2016

Supersilac Quantitative Proteome Profiling Of Murine Middle Ear Epithelial Cell Remodeling With Nthi, Stephanie Val, Katelyn Burgett, Kristy J. Brown, Diego A. Preciado

Pediatrics Faculty Publications

Background

Chronic Otitis Media with effusion (COME) develops after sustained inflammation and is characterized by secretory middle ear epithelial metaplasia and effusion, most frequently mucoid. Non-typeable Haemophilus influenzae (NTHi), the most common acute Otitis Media (OM) pathogen, is postulated to promote middle ear epithelial remodeling in the progression of OM from acute to chronic. The goals of this study were to examine histopathological and quantitative proteomic epithelial effects of NTHi challenge in a murine middle ear epithelial cell line.

Methods

NTHi lysates were generated and used to stimulate murine epithelial cells (mMEEC) cultured at air-liquid interface over 48 hours– …


Sexual Minority (Lgbtq) Youth And Role Of Health Care Provider, Mandakini Sadhir, Stephanie J. Stockburger, Hatim A. Omar Jan 2016

Sexual Minority (Lgbtq) Youth And Role Of Health Care Provider, Mandakini Sadhir, Stephanie J. Stockburger, Hatim A. Omar

Pediatrics Faculty Publications

Adolescence is a time period of physical, psychological and cognitive changes. It is an important phase for an individual to discover who they really are (self-identity), how they are perceived (social identity) and how they fit into the environment they live in.1 One of the major tasks of adolescence is sexual maturation and sexual and /or gender identity development.2 Adolescents who are developing as gay, lesbian, bisexual or transgender face a tremendous challenge of establishing their identity which is often complex.3 They cope with the feelings of being different and are in constant dilemmas about revealing their …


Role Of Elosulfase Alfa In Mucopolysaccharidosis Iva., Debra S. Regier, Pranoot Tanpaiboon Jan 2016

Role Of Elosulfase Alfa In Mucopolysaccharidosis Iva., Debra S. Regier, Pranoot Tanpaiboon

Pediatrics Faculty Publications

Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease which results in a striking skeletal phenotype, but does not negatively impact the intellect of the patient. MPS IVA has a phenotypic continuum that ranges from a severe and rapidly progressing form to a slowly progressive form. The clinical diagnosis is often made in the preschool years based on abnormal bone findings on physical examination and dysplasia on radiographic imaging. Supportive care has been the mainstay in caring for patients. Orthopedic physicians often form the core of the care team due to the early and …


Three Year Old Male With Multiple Dieulafoy Lesions Treated With Epinephrine Injections Via Therapeutic Endoscopy, Christina L. Baldwin, Michael Wilsey Jan 2016

Three Year Old Male With Multiple Dieulafoy Lesions Treated With Epinephrine Injections Via Therapeutic Endoscopy, Christina L. Baldwin, Michael Wilsey

Pediatrics Faculty Publications

Dieulafoy lesions, vascular anomalies typically found along the gastrointestinal tract, have been viewed as rare and obscure causes of sudden intestinal bleeding, especially in pediatric patients. Since their discovery in the late 19th century, the reported incidence has increased. This is due to an increased awareness of, and knowledge about, their presentation and to advanced endoscopic diagnosis and therapy. Our patient was a three-year-old male, without a complex medical history. He presented to the emergency department with acute hematemesis with blood clots and acute anemia requiring blood transfusion. Endoscopy revealed four isolated Dieulafoy lesions along the lesser curvature of the …