Medicine and Health Sciences Commons^™

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% …

Topical Anaesthetics For Pain Control During Repair Of Dermal Laceration., Baraa O. Tayeb, Anthony Eidelman, Cristy L. Eidelman, Ewan D. Mcnicol, Daniel B. Carr

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Topical local anaesthetics provide effective analgesia for patients undergoing numerous superficial procedures, including repair of dermal lacerations. The need for cocaine in topical anaesthetic formulations has been questioned because of concern about adverse effects, thus novel preparations of cocaine-free anaesthetics have been developed. This review was originally published in 2011 and has been updated in 2017.

OBJECTIVES: To assess whether benefits of non-invasive topical anaesthetic application occur at the expense of decreased analgesic efficacy. To compare the efficacy of various single-component or multi-component topical anaesthetic agents for repair of dermal lacerations. To determine the clinical necessity for topical application …

Evaluation Of Treatment-Related Mortality Among Paediatric Cancer Deaths: A Population Based Analysis., Jason D Pole, Paul Gibson, Marie-Chantal Ethier, Tanya Lazor, Donna L Johnston, Carol Portwine, Mariana Silva, Sarah Alexander, Lillian Sung

Paediatrics Publications

BACKGROUND: Objectives were to describe the proportion of deaths due to treatment-related mortality (TRM) and to identify risk factors and probable causes of TRM among paediatric cancer deaths in a population-based cohort.

METHODS: We included children with cancer ⩽18 years diagnosed and treated in Ontario who died between January 2003 and December 2012. Deaths were identified using a provincial registry, the Pediatric Oncology Group of Ontario Networked Information System. Probable causes of TRM were described.

RESULTS: Among the 964 deaths identified, 821 were included. The median age at diagnosis was 6.6 years (range 0-18.8) and 51.8% had at least one …

Using Quality Improvement Methods To Increase Use Of Pain Prevention Strategies For Childhood Vaccination., Jennifer Verrill Schurman, Amanda D. Deacy, Rebecca J. Johnson, Jolynn Parker, Kristi Williams, Dustin Wallace, Mark Connelly, Lynn Anson, Kevin Mroczka

Manuscripts, Articles, Book Chapters and Other Papers

AIM: To increase evidence-based pain prevention strategy use during routine vaccinations in a pediatric primary care clinic using quality improvement methodology.

METHODS: Specific intervention strategies (i.e., comfort positioning, nonnutritive sucking and sucrose analgesia, distraction) were identified, selected and introduced in three waves, using a Plan-Do-Study-Act framework. System-wide change was measured from baseline to post-intervention by: (1) percent of vaccination visits during which an evidence-based pain prevention strategy was reported as being used; and (2) caregiver satisfaction ratings following the visit. Additionally, self-reported staff and caregiver attitudes and beliefs about pain prevention were measured at baseline and 1-year post-intervention …

The Effects Of Closed Kinetic Chain And Endurance Exercises On Reducing Pain In A Child With Ehlers-Danlos Syndrome: A Case Report, Linda Duong, Megan Flores

Physical Therapy Collection

Background and Purpose: Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by joint laxity, chronic pain, and joint instability. Often, children with EDS exhibit polyarthralgia and fatigue as their main symptoms. Although physical therapy is a mainstay of treatment for individuals with EDS, evidence is lacking for specific exercises or treatment strategies for management of pain. The purpose of this case report is to describe the effectiveness of closed kinetic chain and endurance exercises on reducing pain in a child with EDS.

Case Description: The child was a 9 year old girl diagnosed with EDS hypermobility type, and …

Interhospital Transfer Of Children In Respiratory Failure: A Clinician Interview Qualitative Study., Folafoluwa O. Odetola, Renee R. Anspach, Yong Y. Han, Sarah J. Clark

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: To investigate the decision making underlying transfer of children with respiratory failure from level II to level I pediatric intensive care unit care.

METHODS: Interviews with 19 eligible level II pediatric intensive care unit physicians about a hypothetical scenario of a 2-year-old girl in respiratory failure: RESULTS: At baseline, indices critical to management were as follows: OI (53%), partial pressure of oxygen in arterial blood (Pao

CONCLUSION: Interhospital transfer of children in respiratory failure is triggered by poor response to escalation of locally available care modalities. This finding provides new insight into decision making underlying interhospital transfer of children …

Family Strategies To Support Siblings Of Pediatric Hematopoietic Stem Cell Transplant Patients., Taylor E. White, Kristopher A. Hendershot, Margie D. Dixon, Wendy Pelletier, Ann Haight, Kristin Stegenga, Melissa A. Alderfer, Lydia Cox, Jeffrey M. Switchenko, Pamela Hinds, Rebecca D. Pentz

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To describe the strategies families report using to address the needs and concerns of siblings of children, adolescents, and young adults undergoing hematopoietic stem cell transplant (HSCT).

METHODS: A secondary semantic analysis was conducted of 86 qualitative interviews with family members of children, adolescents, and young adults undergoing HSCT at 4 HSCT centers and supplemented with a primary analysis of 38 additional targeted qualitative interviews (23 family members, 15 health care professionals) conducted at the primary center. Analyses focused on sibling issues and the strategies families use to address these issues.

RESULTS: The sibling issues identified included: (1) feeling …

Reexamining The Hypoglycemia Fear Survey For Parents Of Young Children In A Sample Of Children Using Insulin Pumps., Susana R. Patton, Amy E. Noser, Mark A. Clements, Lawrence M. Dolan, Scott W. Powers

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: We update the psychometric properties of the Hypoglycemia Fear Survey-Parents of Young Children (HFS-PYC), a 26-item measure of parents' hypoglycemia fear for young children using an insulin pump.

METHODS: We combined three similar datasets for the analyses. The data analyzed included parents' responses to the HFS-PYC and a demographic form. For a subset of children (n = 91), we also analyzed self-monitoring of blood glucose data. We used confirmatory factor analysis (CFA) to confirm the measure's original factor structure. Additional analyses examined reliability and validity of a revised HFS-PYC for parents of young children using pumps.

RESULTS: We analyzed …

Outcomes From A 12-Week, Open-Label, Multicenter Clinical Trial Of Teduglutide In Pediatric Short Bowel Syndrome., Beth A. Carter, Valeria C. Cohran, Conrad R. Cole, Mark R. Corkins, Reed A. Dimmitt, Christopher Duggan, Susan Hill, Simon Horslen, Joel D. Lim, David F. Mercer, Russell J. Merritt, Peter F. Nichol, Luther Sigurdsson, Daniel H. Teitelbaum, John Thompson, Charles Vanderpool, Juliana F. Vaughan, Benjamin Li, Nader N. Youssef, Robert S. Venick, Samuel A. Kocoshis

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To determine safety and pharmacodynamics/efficacy of teduglutide in children with intestinal failure associated with short bowel syndrome (SBS-IF).

STUDY DESIGN: This 12-week, open-label study enrolled patients aged 1-17 years with SBS-IF who required parenteral nutrition (PN) and showed minimal or no advance in enteral nutrition (EN) feeds. Patients enrolled sequentially into 3 teduglutide cohorts (0.0125 mg/kg/d [n = 8], 0.025 mg/kg/d [n = 14], 0.05 mg/kg/d [n = 15]) or received standard of care (SOC, n = 5). Descriptive summary statistics were used.

RESULTS: All patients experienced ≥1 treatment-emergent adverse event; most were mild or moderate. No serious teduglutide-related …

Cystatin C And Cardiac Measures In Children And Adolescents With Ckd., Tammy M. Brady, Kelly Townsend, Michael F. Schneider, Christopher Cox, Thomas Kimball, Peace Madueme, Bradley A. Warady, Susan Furth, Mark Mitsnefes

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Cardiovascular disease (CVD) is highly prevalent among children with chronic kidney disease (CKD). Cystatin C is an established marker of kidney function and an emerging biomarker for CVD events. We quantified the relationship between cystatin C level and cardiac structure and function over time among children with CKD and assessed whether cystatin C level and diastolic function retained an association after accounting for kidney function.

STUDY DESIGN: Prospective cohort study.

SETTING & PARTICIPANTS: 678 children and adolescents with mild to moderate CKD enrolled in the CKD in Children (CKiD) Study with 1,228 echocardiographically obtained cardiac structure and function measurements. …

Parent And Child Report Of Pain And Fatigue In Jia: Does Disagreement Between Parent And Child Predict Functional Outcomes?, Amy C. Gaultney, Maggie H. Bromberg, Mark Connelly, Tracy Spears, Laura E. Schanberg

Manuscripts, Articles, Book Chapters and Other Papers

While previous research in juvenile idiopathic arthritis (JIA) has identified discrepancy between parent and child perception of disease-related symptoms such as pain, the significance and impact of this disagreement has not been characterized. We examined the extent to which parent-child discordance in JIA symptom ratings are associated with child functional outcomes. Linear regression and mixed effects models were used to test the effects of discrepancy in pain and fatigue ratings on functional outcomes in 65 dyads, consisting of youth with JIA and one parent. Results suggested that children reported increased activity limitations and negative mood when parent and child pain …

Natural Compounds Targeting Major Cell Signaling Pathways: A Novel Paradigm For Osteosarcoma Therapy., Pablo Angulo, Gaurav Kaushik, Dharmalingam Subramaniam, Prasad Dandawate, Kathleen Neville, Katherine Chastain, Shrikant Anant

Manuscripts, Articles, Book Chapters and Other Papers

Osteosarcoma is the most common primary bone cancer affecting children and adolescents worldwide. Despite an incidence of three cases per million annually, it accounts for an inordinate amount of morbidity and mortality. While the use of chemotherapy (cisplatin, doxorubicin, and methotrexate) in the last century initially resulted in marginal improvement in survival over surgery alone, survival has not improved further in the past four decades. Patients with metastatic osteosarcoma have an especially poor prognosis, with only 30% overall survival. Hence, there is a substantial need for new therapies. The inability to control the metastatic progression of this localized cancer stems …

Addendum Guidelines For The Prevention Of Peanut Allergy In The United States: Report Of The National Institute Of Allergy And Infectious Diseases–Sponsored Expert Panel, Alkis Togias, Susan F. Cooper, Maria L. Acebal, Amal Assa'ad, James R. Baker, Lisa A. Beck, Julie Block, Carol Byrd-Bredbenner, Edmond S. Chan, Lawrence F. Eichenfield, David M Fleischer, George J. Fuchs Iii, Glenn T. Furuta, Matthew J. Greenhawt, Ruchi S. Gupta, Michele Habich, Stacie M. Jones, Kari Keaton, Antonella Muraro, Marshall Plaut, Lanny J. Rosenwasser, Daniel Rotrosen, Hugh A. Sampson, Lynda C. Schneider, Scott H. Sicherer, Robert Sidbury, Jonathan Spergel, David R. Stukus, Carina Venter, Joshua A. Boyce

Pediatrics Faculty Publications

Background: Food allergy is an important public health problem because it affects children and adults, can be severe and even life-threatening, and may be increasing in prevalence. Beginning in 2008, the National Institute of Allergy and Infectious Diseases, working with other organizations and advocacy groups, led the development of the first clinical guidelines for the diagnosis and management of food allergy. A recent landmark clinical trial and other emerging data suggest that peanut allergy can be prevented through introduction of peanut-containing foods beginning in infancy.

Objectives: Prompted by these findings, along with 25 professional organizations, federal agencies, and patient advocacy …

Improving Adolescent Hpv Vaccination In A Randomized Controlled Cluster Trial Using The 4 Pillars™ Practice Transformation Program., Richard K. Zimmerman, Krissy K. Moehling, Chyongchiou J. Lin, Song Zhang, Jonathan M. Raviotta, Evelyn C. Reis, Sharon Humiston, Mary Patricia Nowalk

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Uptake of meningococcal vaccine (MCV) and tetanus, diphtheria and pertussis (Tdap) vaccine among adolescents has approached Healthy People 2020 goals, but human papillomavirus (HPV) vaccination has not. This study evaluated an intervention using the 4 Pillars™ Practice Transformation Program to increase HPV, MCV and Tdap uptake among adolescents in primary care practices.

METHODS: Practices with at least 50 patients 11-17years old with estimated vaccination rates less than national goals, were assigned to intervention (n=11) and control (n=11) groups in a randomized controlled cluster trial; 9 intervention and 11 control sites completed the study. The baseline and active study periods …

Caphosol For Prevention Of Oral Mucositis In Pediatric Myeloablative Haematopoietic Cell Transplantation., Nathaniel Treister, Michael Nieder, Christina Baggott, Ellen Olson, Lu Chen, Ha Dang, Mark Krailo, Amanda August, Lillian Sung

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The primary objective was to determine whether topically administered Caphosol, rinsed orally four times daily at the initiation of conditioning, reduces the duration of severe oral mucositis (OM) compared with placebo among children and adolescents undergoing haematopoietic cell transplantation (HCT).

METHODS: This was a Children's Oncology Group multicentre randomised double-blinded placebo-controlled clinical trial. Patients between the ages of 4 and 21 years who were scheduled to undergo myeloablative HCT for any indication were randomised to Caphosol or placebo saline rinses four times daily from initiation of conditioning through day +20. Subjects were assessed daily for OM using the World …

Which Food Security Determinants Predict Adequate Vegetable Consumption Among Rural Western Australian Children?, Stephanie L. Godrich, Johnny Lo, Christina R. Davies, Jill Darby, Amanda Devine

Research outputs 2014 to 2021

Improving the suboptimal vegetable consumption among the majority of Australian children is imperative in reducing chronic disease risk. The objective of this research was to determine whether there was a relationship between food security determinants (FSD) (i.e., food availability, access, and utilisation dimensions) and adequate vegetable consumption among children living in regional and remote Western Australia (WA). Caregiver-child dyads (n = 256) living in non-metropolitan/rural WA completed cross-sectional surveys that included questions on FSD, demographics and usual vegetable intake. A total of 187 dyads were included in analyses, which included descriptive and logistic regression analyses via IBM SPSS (version 23). …

Molecular Characterization Of Nrxn1 Deletions From 19,263 Clinical Microarray Cases Identifies Exons Important For Neurodevelopmental Disease Expression, Chelsea Lowther, Marsha Speevak, Christine M Armour, Elaine S Goh, Gail E Graham, Chumei Li, Susan Zeesman, Malgorzata J M Nowaczyk, Lee-Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H Jung, Victoria Siu, Manjulata Rajguru, Sharan Goobie, Mark A Tarnopolsky, Chitra Prasad, Paul T Dick, Asmaa S Hussain, Margreet Walinga, Renske G Reijenga, Matthew Gazzellone, Anath C Lionel, Christian R Marshall, Stephen W Scherer, Dimitri J Stavropoulos, Elizabeth Mccready, Anne S Bassett

Paediatrics Publications

PURPOSE: The purpose of the current study was to assess the penetrance of NRXN1 deletions.

METHODS: We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative penetrance of NRXN1 deletions.

RESULTS: We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability that were significantly greater than in controls (odds ratio (OR) = 8.14; 95% confidence interval (CI): 2.91-22.72; P < 0.0001). Ten (22.7%) of these had a second clinically relevant CNV. Subjects with a deletion near the 3' end of NRXN1 were significantly more likely to have a second rare CNV than subjects with a 5' NRXN1 deletion (OR = 7.47; 95% CI: 2.36-23.61; P = 0.0006). The prevalence of intronic NRXN1 deletions was not statistically different between cases and controls (P = 0.618). The majority (63.2%) of intronic NRXN1 deletion cases had a second rare CNV at a prevalence twice as high as that for exonic NRXN1 deletion cases (P = 0.0035).

CONCLUSIONS: The results support the importance of exons …

Pediatric Emergency Care Capacity In A Low-Resource Setting: An Assessment Of District Hospitals In Rwanda, Celestin Hategeka, Jean Shoveller, Lisine Tuyisenge, Cynthia Kenyon, David F Cechetto, Larry D Lynd

Paediatrics Publications

BACKGROUND: Health system strengthening is crucial to improving infant and child health outcomes in low-resource countries. While the knowledge related to improving newborn and child survival has advanced remarkably over the past few decades, many healthcare systems in such settings remain unable to effectively deliver pediatric advance life support management. With the introduction of the Emergency Triage, Assessment and Treatment plus Admission care (ETAT+)-a locally adapted pediatric advanced life support management program-in Rwandan district hospitals, we undertook this study to assess the extent to which these hospitals are prepared to provide this pediatric advanced life support management. The results of …

Identification Of Epigenetic Signature Associated With Alpha Thalassemia/Mental Retardation X-Linked Syndrome, Laila C Schenkel, Kristin D Kernohan, Arran Mcbride, Ditta Reina, Amanda Hodge, Peter J Ainsworth, David I Rodenhiser, Guillaume Pare, Nathalie G Bérubé, Cindy Skinner, Kym M Boycott, Charles Schwartz, Bekim Sadikovic

Paediatrics Publications

BACKGROUND: Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene

RESULTS: We performed genome-wide DNA methylation assessment of the peripheral blood samples from 18 patients with ATR-X and compared it to 210 controls. We demonstrated the evidence of a unique and highly specific DNA methylation "epi-signature" in the peripheral blood of ATRX patients, which was corroborated by targeted bisulfite sequencing experiments. Although genomically represented, differentially methylated regions showed evidence of preferential clustering in pericentromeric and telometric chromosomal regions, areas where ATRX has multiple functions related to maintenance of heterochromatin and genomic integrity.

CONCLUSION: …

A Prospective Follow-Up Of Quality Of Life, Depression, Andanxiety In Children With Lymphoma And Solid Tumors, Ni̇hal Sargin Yildirim, Meti̇n Demi̇rkaya, Betül Berri̇n Sevi̇ni̇r, Sali̇h Güler, Ayşe Pinar Vural, Candan Demi̇röz, Arzu Çirpan Kantarcioğlu

Turkish Journal of Medical Sciences

Background/aim: The aim of this study was the determination and prospective follow-up of quality of life, depression, and anxiety in pediatric patients with cancer under chemotherapy, as well as the evaluation of related factors. Materials and methods: Fifty newly diagnosed pediatric cancer patients and their parents were prospectively monitored before, during, and after therapy, and tests were used. Results: Significantly lower quality of life scores were recorded during treatment, in the group with CNS tumors, in the group receiving chemotherapy plus radiotherapy plus surgery, in the inpatient-only treatment group, in the group receiving treatment for longer than 6 months, and …

Language Of Intervention In A Bilingual Child With Autism, Amelie Muzza

Open Access Theses & Dissertations

This study was conducted to address language of intervention for the rapidly-growing bilingual population of children with Autism Spectrum Disorder (ASD) in the United States. The purpose of this study was to determine whether a monolingual English or bilingual Spanish/English condition would yield a greater number of request types in a 3-year-old bilingual participant with autism. A single-subject, rapid alternating treatments design with baseline and a final maintenance phase was used to alternate between monolingual English and bilingual Spanish/English interventions. Results did not meet the criteria set for continuation of treatment in either condition; therefore, both monolingual and bilingual interventions …

Road To Recovery: An Online Guide To Prepare Parents Of Children Who Have Sustained A Major Burn Injury For Successful Home And Community Transition, Michelle Jones, Chad Oppegaard

Occupational Therapy Capstones

Children are the most vulnerable population and represent the highest rate of nonfatal burns resulting in prolonged hospitalization, disfigurement, and disability. These injuries can be a severely stressful experience for children and their families. As a result, it is important for the patient and family members to not focus only on immediate treatment, but recognize the importance of long-term care following discharge in order to effectively reintegrate the child back into the home and community.

A literature review was conducted to investigate the key components of burn care throughout the duration of recovery. Research identified that many parents feel helpless, …

A Review Of Pediatric Pulmonary Hypertension With New Guidelines, Serdar Kula, Ayhan Pektaş

Turkish Journal of Medical Sciences

This study aims to review pediatric pulmonary hypertension (PH) by comparing the guidelines of the European Society of Cardiology (ESC)/European Respiratory Society (ERS), the American Heart Association (AHA)/American Thoracic Society (ATS), and the European Pediatric Pulmonary Vascular Disease Network (EPPVDN). All three sets of guidelines define PH as having a mean pulmonary artery pressure of ≥25 mmHg and accept the validity of the World Health Organization (WHO) classification system. Every child with a high index of suspicion for PH should undergo an initial work-up of chest X-rays, electrocardiography, and echocardiography. The AHA/ATS guidelines emphasize the necessity of cardiac catheterization and …

Unknown Vascular Compression Of The Airway In Patients With Congenitalheart Disease And Persistent Lower Respiratory Symptoms, Tuğba Şi̇şmanlar Eyüboğlu, Ayşe Tana Aslan, Çi̇ğdem Öztunali, Fatma Sedef Tunaoğlu, Ayşe Deni̇z Oğuz, Serdar Kula, Betül Emi̇ne Deri̇nkuyu, Öznur Leman Boyunaga

Turkish Journal of Medical Sciences

Background/aim: Airway compression (AC) by vascular structures is an important complication of congenital heart disease (CHD) that often goes unrecognized. It is not easy to identify whether CHD patients require additional invasive examinations or not. Therefore, the present study aims to develop an AC diagnostic algorithm for CHD patients. Materials and methods: CHD patients with persistent respiratory symptoms that were treated between January 2007 and December 2015 were retrospectively reviewed. The following data were recorded for all CHD patients with AC: age, cardiac anomalies, the compressed structure, the airway diameter ratio (ADR), the compressing structure(s), treatment, and follow-up.Results: During the …

Biomarker And Shear Stress In Secondary Pediatric Pulmonary Hypertension, Ayhan Pektaş, Fatma Rana Olguntürk, Serdar Kula, Erman Çi̇lsal, Ayşe Deni̇z Oğuz, Fatma Sedef Tunaoğlu

Turkish Journal of Medical Sciences

Background/aim: Endothelial dysfunction, tissue damage, inflammation, and microthrombosis are involved in the pathogenesis of pulmonary hypertension (PH), which may be present as a complication of congenital heart diseases. This study aims to identify how indicators of endothelial dysfunction (shear stress), tissue damage (brain natriuretic peptide and troponin T), inflammation (C-reactive protein (CRP)), and microthrombosis (D-dimer and von Willebrand factor) are altered in children with congenital left-to-right shunting. Materials and methods: This is a review of 25 children who developed PH due to congenital left-to-right shunting, 40 children who underwent corrective surgery for congenital left-to-right shunting, and 40 healthy children.Results: Serum …

Randomized Trial Of Two Doses Of Vitamin D3 In Preterm Infants <32 Weeks: Dose Impact On Achieving Desired Serum 25(Oh)D3 In A Nicu Population., Ann Anderson-Berry, Melissa Thoene, Julie Wagner, Elizabeth Lyden, Glenville Jones, Martin Kaufmann, Matthew Van Ormer, Corrine K. Hanson

Journal Articles: Pediatrics

BACKGROUND: Recommendations for vitamin D supplementation for preterm infants span a wide range of doses. Response to vitamin D supplementation and impact on outcomes in preterm infants is not well understood.

OBJECTIVE: Evaluate serum 25(OH)D3 concentration changes after 4 weeks in response to two different doses of vitamin D3 supplementation in a population of premature infants and quantify the impact on NICU outcomes.

DESIGN: 32 infants born at 24-32 weeks gestation were prospectively randomized to receive 400 or 800 IU/day vitamin D3 supplementation. Serum 25(OH)D3 levels were measured every 4 weeks. The Wilcoxon signed rank test was used to compare …

Role Of Fgf23 In Pediatric Hypercalciuria., Maria Goretti Moreira Guimarães Penido, Marcelo De Sousa Tavares, Uri S. Alon

Manuscripts, Articles, Book Chapters and Other Papers

Background: This study explored the possible role of FGF23 in pediatric hypercalciuria.

Methods: Plasma FGF23 was measured in 29 controls and 58 children and adolescents with hypercalciuria: 24 before treatment (Pre-Treated) and 34 after 6 months of treatment (Treated). Hypercalciuric patients also measured serum PTH hormone, 25(OH)vitD, phosphate, calcium, creatinine, and 24 h urine calcium, phosphate, and creatinine.

Results: There were no differences in age, gender, ethnicity, or body mass index either between controls and patients, or between Pre-Treated and Treated patients. Median plasma FGF23 in controls was 72 compared with all patients, 58 RU/mL (p = 0.0019). However, …

Novel Hla-Dp Region Susceptibility Loci Associated With Severe Acute Gvhd., Rakesh K. Goyal, S J. Lee, T Wang, M Trucco, M Haagenson, S R. Spellman, M Verneris, R E. Ferrell

Manuscripts, Articles, Book Chapters and Other Papers

Despite HLA allele matching, significant acute GvHD remains a major barrier to successful unrelated donor BMT. We conducted a genome-wide association study (GWAS) to identify recipient and donor genes associated with the risk of acute GvHD. A case-control design (grade III-IV versus no acute GvHD) and pooled GWA approach was used to study European-American recipients with hematological malignancies who received myeloablative conditioning non-T-cell-depleted first transplantation from HLA-A, -B, -C, -DRB1, -DQB1 allele level (10/10) matched unrelated donors. DNA samples were divided into three pools and tested in triplicate using the Affymetrix Genome-wide SNP Array 6.0. We identified three novel susceptibility …

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 …

Introduction Of Peanuts To The Pediatric Patient, Leslee Graff

Physician Assistant Scholarly Project Posters

Peanut allergies have been diagnosed exponentially over the last ten-years and are more severe now than ever before. (DuToit et al. 2106) Some of the latest statistics are citing more than double the amount of peanut allergies diagnosed in the last few years. Guidelines set forth in 2010, by the American Academy of Allergy, Asthma, and Immunology stated that peanut, milk, soy, wheat, egg, and other tree nuts were to be avoided until three years of age, unless these patients have other chronic illnesses such as asthma or other atopic conditions. If so, the patient is to abstain from these …