Medicine and Health Sciences Commons^™

Multiple Organ Dysfunction In Children Mechanically Ventilated For Acute Respiratory Failure., Scott L. Weiss, Lisa A. Asaro, Heidi R. Flori, Geoffrey L. Allen, David Wypij, Martha A Q Curley, Randomized Evaluation Of Sedation Titration For Respiratory Failure (Restore) Study Investigators

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: The impact of extrapulmonary organ dysfunction, independent from sepsis and lung injury severity, on outcomes in pediatric acute respiratory failure is unclear. We sought to determine the frequency, timing, and risk factors for extrapulmonary organ dysfunction and the independent association of multiple organ dysfunction syndrome with outcomes in pediatric acute respiratory failure.

DESIGN: Secondary observational analysis of the Randomized Evaluation of Sedation Titration for Respiratory Failure cluster-randomized prospective clinical trial conducted between 2009 and 2013.

SETTING: Thirty-one academic PICUs in the United States.

PATIENTS: Two thousand four hundred forty-nine children mechanically ventilated for acute respiratory failure enrolled in Randomized …

In Vivo Characterization Of Cyp2d6*12, *29 And *84 Using Dextromethorphan As A Probe Drug: A Case Report., Andrea Gaedigk, Greyson P. Twist, Emily G. Farrow, Jennifer Lowry, Sarah E. Soden, Neil A. Miller

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CYP2D6*84 was first described in a Black South African subject, however, its function remains unknown. Astrolabe, a probabilistic scoring tool developed in our laboratory to call genotypes from whole genome sequence, identified CYP2D6*84 in a trio. The father presented with intermediate metabolism when challenged with the CYP2D6 probe drug dextromethorphan (DM/dextrorphan [DX] = 0.0839). Since his second allele, CYP2D6*12, is nonfunctional, the observed activity is derived by CYP2D6*84. This finding suggests that the allele's hallmark P267H causes decreased activity toward DM and that this allele should receive a value of 0.5 for Activity Score calculations. The mother's DM/DX of 0.0543 …

Tobacco Product Use Among Lesbian, Gay, And Bisexual Adolescents., Hongying Dai

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: Sexual minority youth face health disparities and a high risk of substance abuse. This study sought to fully characterize the disparity of tobacco use and risk factors in this high-risk subpopulation.

METHODS: Using data from the 2015 Youth Risk Behavior Survey, the current use of various tobacco products (cigarettes, smokeless tobacco, cigars, and e-cigarettes) was compared according to sex and distinct sexual identities (lesbian, gay, bisexual, and unsure). Heterosexual/straight adolescents served as the control group.

RESULTS: Of 14 703 respondents, 88.8% were heterosexual/straight, 2.0% were lesbian or gay, 6.0% were bisexual, and 3.2% were unsure about their sexual identity. …

Physician Satisfaction With Integrated Behavioral Health In Pediatric Primary Care., Jeffrey F. Hine, Allison Q. Grennan, Kathryn M. Menousek, Gail Robertson, Rachel J. Valleley, Joseph H. Evans

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As the benefits of integrated behavioral health care services are becoming more widely recognized, this study investigated physician satisfaction with ongoing integrated psychology services in pediatric primary care clinics. Data were collected across 5 urban and 6 rural clinics and demonstrated the specific factors that physicians view as assets to having efficient access to a pediatric behavioral health practitioner. Results indicated significant satisfaction related to quality and continuity of care and improved access to services. Such models of care may increase access to care and reduce other service barriers encountered by individuals and their families with behavioral health concerns (ie, …

Renin-Angiotensin Ii-Aldosterone System Blockers And Time To Renal Replacement Therapy In Children With Ckd., Alison G. Abraham, Aisha Betoko, Jeffrey J. Fadrowski, Christopher Pierce, Susan L. Furth, Bradley A. Warady, Alvaro Muñoz

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Clinical care decisions to treat chronic kidney disease (CKD) in a growing child must often be made without the benefit of evidence from clinical trials. We used observational data from the Chronic Kidney Disease in Children cohort to estimate the effectiveness of renin-angiotensin II-aldosterone system blockade (RAAS) to delay renal replacement therapy (RRT) in children with CKD.

METHODS: A total of 851 participants (median age: 11 years, median glomerular filtration rate [GFR]: 52 ml/min/1.73 m

RESULTS: There were 217 RRT events over a 4.1-year median follow-up. At baseline, 472 children (55 %) were prevalent RAAS users, who were more …

Diet And Polycystic Kidney Disease: A Pilot Intervention Study., Jacob M. Taylor, Jill M. Hamilton-Reeves, Debra K. Sullivan, Cheryl A. Gibson, Catherine Creed, Susan E. Carlson, Donald E. Wesson, Jared J. Grantham

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BACKGROUND & AIMS: Dietary sodium, protein, acid precursors, and water have been linked to cyst growth in polycystic kidney disease; yet, no studies in patients have examined the feasibility of using a dietary intervention that controls all of these factors. The aim of this study was to determine if a diet, appropriate for persons of most ages, reduces the excretion of sodium, urea, acid, and decreases mean urine osmolality while gaining acceptance by patients with autosomal dominant polycystic kidney disease (ADPKD).

METHODS: Twelve adults with ADPKD enrolled in a pre-post pilot feasibility study and served as their own controls. Individuals …

Maximizing Health Outcomes In A Medical Home For Children With Medical Complexity: The Beacon Program., Ingrid Larson, Amber Hoffman, Michael Artman

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No abstract provided.

Expectations For Treatment In Pediatric Weight Management And Relationship To Attrition., Erinn T. Rhodes, Richard E. Boles, Kimberly Chin, Amy Christison, Elizabeth Getzoff Testa, Kimberly Guion, Mary Jane Hawkins, Carter R. Petty, Bethany Sallinen Gaffka, Melissa Santos, Laura Shaffer, Jared Tucker, Sarah Hampl

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BACKGROUND: Attrition in pediatric weight management negatively impacts treatment outcomes. A potentially modifiable contributor to attrition is unmet family expectations. This study aimed to evaluate the association between adolescent and parent/guardian treatment expectations and attrition.

PATIENTS AND METHODS: A prospective, nonrandomized, uncontrolled, single-arm pilot trial was conducted among 12 pediatric weight management programs in the Children's Hospital Association's FOCUS on a Fitter Future collaborative. Parents/guardians and adolescents completed an expectations/goals survey at their initial visit, with categories including healthier food/drinks, physical activity/exercise, family support/behavior, and weight management goals. Attrition was assessed at 3 months.

RESULTS: From January to August 2013, …

Evaluating Parents' Self-Efficacy For Diabetes Management In Pediatric Type 1 Diabetes., Amy E. Noser, Susana R. Patton, Jason Van Allen, Michael B. Nelson, Mark A. Clements

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Objective: To examine the factor structure and construct validity of the Maternal Self-Efficacy for Diabetes Management Scale (MSED) in 135 youth ( Mage  = 13.50  ±  1.83 years), with type 1 diabetes mellitus.

Method: The study used exploratory factor analysis (EFA) to examine the factor structure and correlations to examine relationships among MSED factors and select parent and child diabetes-related health behaviors and outcomes.

Results: EFA identified an 11-item three-factor solution (χ 2 (25, n  = 133)  = 40.22, p  < .03, RMSEA = 0.07, CFI = 0.98, TLI = 0.97), with factors corresponding to parents' perceived ability to manage their child's diabetes (MSED-M), problem-solve issues surrounding glycemic control (MSED-P), and teach their child about diabetes care (MSED-T). Correlational analyses revealed significant associations between the MSED-M and MSED-T and parent-reported optimism and youth's diabetes-specific self-efficacy. The MSED-T was also associated with glycated hemoglobin and self-monitoring blood glucose.

Conclusions: Results provide preliminary evidence for the reliability and validity of a three-factor solution of the MSED.

The Randomized, Controlled Trial Of Late Surfactant: Effects On Respiratory Outcomes At 1-Year Corrected Age., Roberta L. Keller, Eric C. Eichenwald, Anna Maria Hibbs, Elizabeth E. Rogers, Katherine C. Wai, Dennis M. Black, Philip L. Ballard, Jeanette M. Asselin, William E Truog, Jeffrey D. Merrill, Mark C. Mammel, Robin H. Steinhorn, Rita M. Ryan, David J. Durand, Catherine M. Bendel, Ellen M. Bendel-Stenzel, Sherry E. Courtney, Ramasubbareddy Dhanireddy, Mark L. Hudak, Frances R. Koch, Dennis E. Mayock, Victor J. Mckay, Jennifer Helderman, Nicolas F. Porta, Rajan Wadhawan, Lisa Palermo, Roberta A. Ballard, Tolsurf Study Group

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OBJECTIVE: To determine the effects of late surfactant on respiratory outcomes determined at 1-year corrected age in the Trial of Late Surfactant (TOLSURF), which randomized newborns of extremely low gestational age (≤28 weeks' gestational age) ventilated at 7-14 days to late surfactant and inhaled nitric oxide vs inhaled nitric oxide-alone (control).

STUDY DESIGN: Caregivers were surveyed in a double-blinded manner at 3, 6, 9, and 12 months' corrected age to collect information on respiratory resource use (infant medication use, home support, and hospitalization). Infants were classified for composite outcomes of pulmonary morbidity (no PM, determined in infants with no reported …

Genomic Contraindications For Heart Transplantation., Danton S. Char, Gabriel Lázaro-Muñoz, Aliessa Barnes, David Magnus, Michael J. Deem, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

Genome sequencing raises new ethical challenges. Decoding the genome produces new forms of diagnostic and prognostic information; however, the information is often difficult to interpret. The connection between most genetic variants and their phenotypic manifestations is not understood. This scenario is particularly true for disorders that are not associated with an autosomal genetic variant. The analytic uncertainty is compounded by moral uncertainty about how, exactly, the results of genomic testing should influence clinical decisions. In this Ethics Rounds, we present a case in which genomic findings seemed to play a role in deciding whether a patient was to be listed …

Increasing Ed Use Of Jet Injection Of Lidocaine For Iv-Related Pain Management., Shobhit Jain, Mary A. Hegenbarth, Sharon Humiston, Erin Gunter, Lynn Anson, Joan Giovanni

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BACKGROUND AND OBJECTIVE: Venipuncture is a leading cause of procedural pain for children. Jet injection of lidocaine (JIL; J-Tip) has been demonstrated to be effective in controlling intravenous (IV) placement-related pain and, due to its rapid onset, is particularly suited to emergency department (ED) use. Our objective was to increase JIL use with IV placements in our ED from 11% at baseline to 50% within 12 months.

METHODS: We initiated the project at our urban, tertiary pediatric ED in July 2014. We surveyed medical and nursing teams to identify barriers to JIL use. We initiated changes at monthly intervals: (1) …

Impact Of Cyp2d6 Genotype On Amitriptyline Efficacy For The Treatment Of Diabetic Peripheral Neuropathy: A Pilot Study., Mamoonah Chaudhry, Marco Alessandrini, Jacobus Rademan, Tyren M. Dodgen, Francois E. Steffens, Danie G. Van Zyl, Andrea Gaedigk, Michael S. Pepper

Manuscripts, Articles, Book Chapters and Other Papers

AIM: Therapy with low-dose amitriptyline is commonly used to treat painful diabetic peripheral neuropathy. There is a knowledge gap, however, regarding the role of variable CYP2D6-mediated drug metabolism and side effects (SEs). We aimed to generate pilot data to demonstrate that SEs are more frequent in patients with variant CYP2D6 alleles.

METHOD: To that end, 31 randomly recruited participants were treated with low-dose amitriptyline for painful diabetic peripheral neuropathy and their CYP2D6 gene sequenced.

RESULTS: Patients with predicted normal or ultra-rapid metabolizer phenotypes presented with less SEs compared with individuals with decreased CYP2D6 activity.

CONCLUSION: Hence, CYP2D6 genotype contributes to …

Fine-Mapping The Mhc Locus In Juvenile Idiopathic Arthritis (Jia) Reveals Genetic Heterogeneity Corresponding To Distinct Adult Inflammatory Arthritic Diseases., A Hinks, J Bowes, J Cobb, H C. Ainsworth, M C. Marion, M E. Comeau, M Sudman, B Han, Juvenile Arthritis Consortium For Immunochip, Mara L. Becker, J F. Bohnsack, P I W De Bakker, J P. Haas, M Hazen, D J. Lovell, P A. Nigrovic, E Nordal, M Punnaro, A M. Rosenberg, M Rygg, S L. Smith, C A. Wise, V Videm, L R. Wedderburn, A Yarwood, R S M Yeung, S Prahalad, C D. Langefeld, S Raychaudhuri, S D. Thompson, W Thomson

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases, comprising seven categories. Genetic data could potentially be used to help redefine JIA categories and improve the current classification system. The human leucocyte antigen (HLA) region is strongly associated with JIA. Fine-mapping of the region was performed to look for similarities and differences in HLA associations between the JIA categories and define correspondences with adult inflammatory arthritides.

METHODS: Dense genotype data from the HLA region, from the Immunochip array for 5043 JIA cases and 14 390 controls, were used to impute single-nucleotide polymorphisms, HLA classical alleles and amino acids. …

Metabolic And Molecular Insights Into An Essential Role Of Nicotinamide Phosphoribosyltransferase., Li Q. Zhang, Leon Van Haandel, Min Xiong, Peixin Huang, Daniel P. Heruth, Chengpeng Bi, R Gaedigk, Xun Jiang, Ding-You Li, Gerald Wyckoff, Dmitry N. Grigoryev, Li Gao, Linheng Li, Min Wu, J Steven Leeder, Shui Qing Ye

Manuscripts, Articles, Book Chapters and Other Papers

Nicotinamide phosphoribosyltransferase (NAMPT) is a pleiotropic protein implicated in the pathogenesis of acute respiratory distress syndrome, aging, cancer, coronary heart diseases, diabetes, nonalcoholic fatty liver disease, obesity, rheumatoid arthritis, and sepsis. However, the underlying molecular mechanisms of NAMPT in these physiological and pathological processes are not fully understood. Here, we provide experimental evidence that a Nampt gene homozygous knockout (Nampt-/-) resulted in lethality at an early stage of mouse embryonic development and death within 5-10 days in adult mice accompanied by a 25.24±2.22% body weight loss, after the tamoxifen induction of NamptF/F × Cre mice. These results substantiate that Nampt …

Facing The Ongoing Challenge Of The Febrile Young Infant., Adrienne G. Deporre, Paul L. Aronson, Russell J. Mcculloh

Manuscripts, Articles, Book Chapters and Other Papers

This article is one of ten reviews selected from the Annual Update in Intensive Care and Emergency Medicine 2017. Other selected articles can be found online at http://ccforum.com/series/annualupdate2017 . Further information about the Annual Update in Intensive Care and Emergency Medicine is available from http://www.springer.com/series/8901 .

Mortality Associated With Gastrointestinal Bleeding In Children: A Retrospective Cohort Study., Thomas M. Attard, Mikaela Miller, Chaitanya Pant, Ashwath Kumar, Mike Thomson

Manuscripts, Articles, Book Chapters and Other Papers

AIM: To determine the clinical characteristics of children with gastrointestinal bleeding (GIB) who died during the course of their admission.

METHODS: We interrogated the Pediatric Hospital Information System database, including International Classification of Diseases, Current Procedural Terminology and Clinical Transaction Classification coding from 47 pediatric tertiary centers extracting the population of patients (1-21 years of age) admitted (inpatient or observation) with acute, upper or indeterminate GIB (1/2007-9/2015). Descriptive statistics, unadjusted univariate and adjusted multivariate analysis of the associations between patient characteristics and treatment course with mortality was performed with mortality as primary and endoscopy a secondary outcome of interest. All …

Parvovirus B19 Ns1 Protein Induces Cell Cycle Arrest At G2-Phase By Activating The Atr-Cdc25c-Cdk1 Pathway., Peng Xu, Zhe Zhou, Min Xiong, Wei Zou, Xuefeng Deng, Safder S. Ganaie, Steve Kleiboeker, Jianxin Peng, Kaiyu Liu, Shengqi Wang, Shui Qing Ye, Jianming Qiu

Manuscripts, Articles, Book Chapters and Other Papers

Human parvovirus B19 (B19V) infection of primary human erythroid progenitor cells (EPCs) arrests infected cells at both late S-phase and G2-phase, which contain 4N DNA. B19V infection induces a DNA damage response (DDR) that facilitates viral DNA replication but is dispensable for cell cycle arrest at G2-phase; however, a putative C-terminal transactivation domain (TAD2) within NS1 is responsible for G2-phase arrest. To fully understand the mechanism underlying B19V NS1-induced G2-phase arrest, we established two doxycycline-inducible B19V-permissive UT7/Epo-S1 cell lines that express NS1 or NS1mTAD2, and examined the function of the TAD2 domain during G2-phase arrest. The results confirm that the …

Impact Of Smartphone Digital Photography, Email, And Media Communication On Emergency Room Visits Post-Hypospadias Repair., Michael E. Chua, Megan A. Saunders, Paul R. Bowlin, Jessica M. Ming, Roberto Iglesias Lopes, Walid A. Farhat, Joana Dos Santos

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Advances in communication technology are shaping our medical practice. To date, there is no clear evidence that this mode of communication will have any effect on unnecessary postoperative emergency room (ER) visits. We aim to evaluate the effect of email and media communication with application of smartphone digital photography on post-hypospadias repair ER visit rates.

METHODS: This prospective cohort study included all patients who underwent hypospadias repair performed by a single surgeon from October 2014 to November 2015. Patients were categorized into two groups: Group A consented for smartphone photography and email communication and Group B declined. Reason for …

Clinical Impact Of An Antibiotic Stewardship Program At A Children's Hospital., Brian R. Lee, Jennifer Goldman, Diana Yu, Angela Myers, Leslie M. Stach, Erin Hedican, Mary Anne Jackson, Jason G. Newland

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Antibiotic stewardship programs (ASP) improve appropriate antibiotic use. Data are limited on the clinical benefit of ASPs in children's hospitals. This study's objective was to determine the impact of an ASP on length of stay (LOS) and readmission rate among patients admitted to children's hospitals.

METHODS: Data from a prospective-audit-with-feedback ASP were used to examine the ASP review characteristics, including antibiotic(s) prescribed, clinical indication, recommendations made by the ASP, and agreement with recommendations. Propensity score analysis was utilized to determine the impact of the ASP on LOS and 30-day readmission based on whether the patient received an ASP recommendation …

Outpatient Parenteral Antimicrobial Therapy In Pediatric Medicaid Enrollees., Jennifer Goldman, Troy Richardson, Jason G. Newland, Brian R. Lee, Jeffrey S. Gerber, Matt Hall, Matthew Kronman, Adam L. Hersh

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Background: Outpatient parenteral antimicrobial therapy (OPAT) is overused in cases where highly bioavailable oral alternatives would be equally effective. However, the scope of OPAT use for children nationwide is poorly understood. Our objective was to characterize OPAT use and clinical outcomes for a large population of pediatric Medicaid enrollees treated with OPAT.

Methods: We analyzed the Truven MarketScan Medicaid claims database between 2009 and 2012. An OPAT episode was identified by capturing children with claims data indicating home infusion therapy for an intravenous antimicrobial. We characterized OPAT use by describing patient demographics, diagnoses, and antimicrobials prescribed. We categorized an antimicrobial …

Longitudinal Cardiovascular Outcomes Of Sleep Disordered Breathing In Children: A Meta-Analysis And Systematic Review., Zarmina Ehsan, Stacey L. Ishman, Thomas R. Kimball, Nanhua Zhang, Yuanshu Zou, Raouf S. Amin

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Objectives: The presence of sleep disordered breathing (SDB) is known to impact long-term cardiovascular morbidity in adults; however, the long-term effects in children are poorly understood. We aimed to systematically review and synthesize studies published to date on the long-term effects of SDB in children.

Study Design: Meta-analysis and systematic review using PubMed, CINAHL, Embase, and Scopus (all indexed years).

Methods: We searched for English-language articles containing original human data from prospective studies, with ≥7 participants, in children ≤18 years of age. Data regarding study design, demographics, clinical characteristics, outcomes, level of evidence, and risk of bias were obtained. Articles …

Ethical Concerns When Minors Act As Standardized Patients., Erwin Jiayuan Khoo, Robert Schremmer, Douglas S. Diekema, John Lantos

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When minors are asked to assist medical educators by acting as standardized patients (SPs), there is a potential for the minors to be exploited. Minors deserve protection from exploitation. Such protection has been written into regulations governing medical research and into child labor laws. But there are no similar guidelines for minors' work in medical education. This article addresses the question of whether there should be rules. Should minors be required to give their informed consent or assent? Are there certain practices that could cause harm for the children who become SPs? We present a controversial case and ask a …

The Art And Skill Of Delivering Culturally Responsive Trauma-Focused Cognitive Behavioral Therapy In Tanzania And Kenya., Briana Woods-Jaeger, Christine M. Kava, Christopher F. Akiba, Leah Lucid, Shannon Dorsey

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: This study explored the facilitators, barriers, and strategies used to deliver a child mental health evidence-based treatment (EBT), trauma-focused cognitive behavioral therapy (TF-CBT), in a culturally responsive manner. In low- and middle-income countries most individuals with mental health problems do not receive treatment due to a shortage of mental health professionals. One approach to addressing this problem is task-sharing, in which lay counselors are trained to deliver mental health treatment. Combining this approach with a focus on EBT provides a strategy for bridging the mental health treatment gap. However, little is known about how western-developed EBTs are delivered in …

Assessment Of Dietary Intake Of Children With Chronic Kidney Disease., Wun Fung Hui, Aisha Betoko, Jonathan D. Savant, Alison G. Abraham, Larry A. Greenbaum, Bradley A. Warady, Marva M. Moxey-Mims, Susan L. Furth

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Our aim was to characterize the nutrient intake of children with chronic kidney disease (CKD) relative to recommended intake levels.

METHODS: We conducted a cross-sectional study of dietary intake assessed by Food Frequency Questionnaire (FFQ) in The North American Chronic Kidney Disease in Children (CKiD) prospective cohort study. Nutrient intake was analyzed to estimate the daily consumption levels of various nutrients and compared with national guidelines for intake.

RESULTS: There were 658 FFQs available for analysis; 69.9 % of respondents were boys, with a median age [Interquartile range (IQR)] of 11 years (8-15). Median daily sodium, potassium, and phosphorus …

Haemophilus Influenzae Type B Invasive Disease In Amish Children, Missouri, Usa, 2014, Angela L. Myers, Mary Anne Jackson, Lixin Zhang, Douglas S. Swanson, Janet R. Gilsdorf

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© 2017, Centers for Disease Control and Prevention (CDC). All rights reserved. During 5 months in 2014, three Amish children in Missouri, USA, were diagnosed with invasive Haemophilus influenzae type b infection. Two were rural neighbors infected with a genetically similar rare strain, sequence type 45. One child had recently traveled, raising the possibility of maintenance of this strain among unvaccinated carriers in Amish communities.

Mucopolysaccharidosis Type I Newborn Screening: Best Practices For Diagnosis And Management., Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra L. Day-Salvatore, Paige Kaplan, Nancy D. Leslie, C Ronald Ronald Scott, David W. Stockton, Janet A. Thomas, Joseph Muenzer

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Evaluating The Accountable Health Communities Demonstration Project., Laura Gottlieb, Jeffrey D. Colvin, Eric Fleegler, Danielle Hessler, Arvin Garg, Nancy Adler

Manuscripts, Articles, Book Chapters and Other Papers

Despite substantial evidence documenting the social patterning of disease, relatively little information is available on how the health care system can best intervene on social determinants to impact individual and population health. Announced in January 2016, the Centers for Medicare and Medicaid Innovation's (CMMI) Accountable Health Communities (AHC) initiative provides an important opportunity to improve the evidence base around integrated social and medical care delivery. To maximize learning from this large-scale demonstration, comprehensive evaluation efforts should focus on effectiveness and implementation research by supporting local, regional, and national studies across a range of outcomes. Findings from this demonstration could transform …

External Cardioversion Of Supraventricular Tachycardia In Omphalo-Thoracopagus Conjoined Twins., M Rizwan Afzal, Lindsey Malloy-Walton, Svjetlana Tisma-Dupanovic, Andrea L. Miles, Sanket Shah, John Papagiannis

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Genetic Drivers Of Kidney Defects In The Digeorge Syndrome., Esther Lopez-Rivera, Yangfan P. Liu, Miguel Verbitsky, Blair R. Anderson, Valentina P. Capone, Edgar A. Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J. Steers, David A. Fasel, Katarina Vukojevic, Rong Deng, Silvia E. Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S. Makar, Monica Bodria, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S. Petrey, Barry Honig, Vladimir J. Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E Van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M. Mcdonald-Mcginn, Terrence B. Crowley, Elaine H. Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M. Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S. Wong, Iain A Drummond, Vivette D'Agati, Akira Imamoto, Jonathan M. Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P. Lifton, Bernice E. Morrow, Cecile Jeanpierre, Virginia E. Papaioannou, Gian Marco Ghiggeri, Ali G. Gharavi, Nicholas Katsanis, Simone Sanna-Cherchi

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown.

METHODS: We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies. We also carried out functional studies using zebrafish and mice.

RESULTS: We identified heterozygous deletions of 22q11.2 in 1.1% …