Medicine and Health Sciences Commons^™

De Novo Frameshift Mutation In Asxl3 In A Patient With Global Developmental Delay, Microcephaly, And Craniofacial Anomalies., Darrell L. Dinwiddie, Sarah E. Soden, Carol J. Saunders, Neil A. Miller, Emily G. Farrow, Laurie D. Smith, Stephen F. Kingsmore

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical investigation. The recent advent and use of genomic medicine has resulted in a paradigm shift in the clinical molecular genetics of rare diseases and has provided insight into the causes of numerous rare genetic conditions. In particular, whole exome and genome sequencing of families has been particularly useful in discovering de novo germline mutations as the cause of both rare diseases and complex disorders.

CASE PRESENTATION: …

Is Adrenalectomy Necessary During Unilateral Nephrectomy For Wilms Tumor? A Report From The Children's Oncology Group., Kathleen Kieran, James R Anderson, Jeffrey S Dome, Peter F Ehrlich, Michael L Ritchey, Robert C Shamberger, Elizabeth J Perlman, Daniel M Green, Andrew M Davidoff

Pediatrics Faculty Publications

PURPOSE: To determine whether performing adrenalectomy at the time of nephrectomy for unilateral Wilms tumor impacts clinical outcome.

METHODS: We reviewed information on all patients enrolled on National Wilms Tumor Study-4 and -5. Data were abstracted on patient demographics, tumor characteristics, surgical and pathologic status of the adrenal gland, and patient outcomes. The primary endpoints were intraoperative spill and five-year event-free survival (EFS) in patients who did or did not undergo adrenalectomy.

RESULTS: Of 3825 patients with complete evaluable data, the adrenal was left in situ in 2264 (57.9%) patients, and was removed completely in 1367 patients (36.7%) or partially …

Erps Reveal The Temporal Dynamics Of Auditory Word Recognition In Specific Language Impairment., Jeffrey G Malins, Amy S Desroches, Erin K Robertson, Randy Lynn Newman, Lisa M D Archibald, Marc F Joanisse

Brain and Mind Institute Researchers' Publications

We used event-related potentials (ERPs) to compare auditory word recognition in children with specific language impairment (SLI group; N=14) to a group of typically developing children (TD group; N=14). Subjects were presented with pictures of items and heard auditory words that either matched or mismatched the pictures. Mismatches overlapped expected words in word-onset (cohort mismatches; see: DOLL, hear: dog), rhyme (CONE -bone), or were unrelated (SHELL -mug). In match trials, the SLI group showed a different pattern of N100 responses to auditory stimuli compared to the TD group, indicative of early auditory processing differences in SLI. However, the phonological mapping …

Acute Glomerulonephritis In A Child With Chlamydia Pneumoniae Infection: A Case Report., Giovanna Vitaliti, Raffaele Falsaperla, Leandra Giunta, Giuseppina Spataro, Venerando Rapisarda, Mario Velardita, Giuseppe Nunnari, Piero Pavone

Division of Infectious Diseases and Environmental Medicine Faculty Papers

Background. Infectious diseases seem to be an important and independent risk factor for renal failure, but the underlying mechanism of renal involvement during some kinds of infectious diseases is still unclear, even if the literature data report immunomediated and/or autoimmune mechanisms to explain the pathogenic relationship between the two diseases. In paediatric patients, Chlamydia pneumoniae is a rare cause of renal complications and it may manifest in several ways, mainly involving the respiratory system, even if also renal and glomerulalr complications, have been described. Case Diagnosis/Treatment. Herein we report a case of a 3-year-old child who developed an acute glomerulonephritis …

Hiv-1 Autologous Antibody Neutralization Associates With Mother To Child Transmission, Elly Baan, Anthony De Ronde, Martijn Stax, Rogier W. Sanders, Stanley Luchters, Joseph Vyankandondera, Joep M. Lange, Georgios Pollakis, William A. Paxton

Population Health, East Africa

The HIV-1 characteristics associated with mother to child transmission (MTCT) are still poorly understood and if known would indicate where intervention strategies should be targeted. In contrast to horizontally infected individuals, exposed infants possess inherited antibodies (Abs) from their mother with the potential to protect against infection. We investigated the HIV-1 gp160 envelope proteins from seven transmitting mothers (TM) whose children were infected either during gestation or soon after delivery and from four non-transmitting mothers (NTM) with similar viral loads and CD4 counts. Using pseudo-typed viruses we tested gp160 envelope glycoproteins for TZM-bl infectivity, CD4 and CCR5 interactions, DC-SIGN capture …

Dna Methylation Analysis Reveals Distinct Methylation Signatures In Pediatric Germ Cell Tumors, James F. Amatruda, Julie A. Ross, Brock Christensen, Nicholas J. Fustino, Kenneth S. Chen, Anthony J. Hooten, Heather Nelson, Jacquelyn K. Kuriger, Dinesh Rakheja, A. Lindsay Frazier, Jenny N. Poynter

Dartmouth Scholarship

Background: Aberrant DNA methylation is a prominent feature of many cancers, and may be especially relevant in germ cell tumors (GCTs) due to the extensive epigenetic reprogramming that occurs in the germ line during normal development. Methods: We used the Illumina GoldenGate Cancer Methylation Panel to compare DNA methylation in the three main histologic subtypes of pediatric GCTs (germinoma, teratoma and yolk sac tumor (YST); N = 51) and used recursively partitioned mixture models (RPMM) to test associations between methylation pattern and tumor and demographic characteristics. We identified genes and pathways that were differentially methylated using generalized linear models and …

Significant Sequelae After Bacterial Meningitis In Niger: A Cohort Study, Jean-François Jusot, Zilahatou Tohon, Abdoul Aziz Yazi, Jean-Marc Collard

Epidemiology and Environmental Health Faculty Publications

BACKGROUND: Beside high mortality, acute bacterial meningitis may lead to a high frequency of neuropsychological sequelae. The Sahelian countries belonging to the meningitis belt experience approximately 50% of the meningitis cases occurring in the world. Studies in Africa have shown that N. meningitidis could cause hearing loss in up to 30% of the cases, exceeding sometimes measles. The situation is similar in Niger which experiences yearly meningitis epidemics and where rehabilitation wards are rare and hearing aids remain unaffordable. The aim of this study was to estimate the frequency of neuropsychological sequelae after acute bacterial meningitis in four of the …

Effects Of A School-Based Education Intervention On Bmi And Physical Activity, Lauren M. Panner

Evidence-Based Practice Project Reports

In 2011, the CDC reported that there are 12.5 million obese children and adolescents living in the United States (U.S.). The financial burden of childhood obesity in the U.S. is estimated to be 14 billion dollars. The objective of this evidence-based practice (EBP) project was to answer the question: In school-aged children, how does school-based, structured, family-oriented physical activity education affect body mass index (BMI) compared to usual education over an eight week time period? The Stetler Model of EBP and the health belief model were used to guide this project in a rural, Northwest Indiana elementary school. For eight …

Healthy Skin Is In: Effects Of A Multifaceted Sun Safety Program For Adolescents, Lindsay A. Munden

Evidence-Based Practice Project Reports

Skin cancer is a common, potentially life threatening disease notably on the rise among young Americans. A substantial portion of lifetime exposure to ultraviolet (UV) radiation, the greatest modifiable risk factor for skin cancer development, occurs during childhood and adolescence. Schools infrequently integrate sun safety education into the classroom and many lack essential sun safety policies. The purpose of this EBP project was to implement a multifaceted educational intervention providing middle school students with the knowledge behavioral skills needed to minimize the risk of developing skin cancer. The Health Belief Model and ACE Star Model of evidence-based practice guided this …

Renal Function And Proteinuria After Successful Immunosuppressive Therapies In Patients With Fsgs., Ronald J. Hogg, Aaron Friedman, Tom Greene, Milena Radeva, Milos N. Budisavljevic, Jennifer Gassman, Debbie S. Gipson, J Ashley Jefferson, Eunice G. John, Frederick J. Kaskel, Asha Moudgil, Marva Moxey-Mims, Luis A. Ortiz, Jeffrey R. Schelling, William Schnaper, Tarak Srivastava, Howard Trachtman, V Matti Vehaskari, Craig Wong, Robert P. Woronieki, Scott K. Van Why, Anna Zolotnitskaya

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: In the FSGS Clinical Trial, 22 cyclosporine-treated and 20 mycophenolate/dexamethasone-treated patients experienced a complete or partial remission after 26 weeks, completed 52 weeks of treatment, and were studied through 78 weeks. Herein, changes in the urine protein/creatinine ratio (UP/C) and estimated GFR (eGFR) throughout the entire study period are defined.

DESIGN, SETTING, PARTICIPANTS, AND MEASUREMENTS: The FSGS Clinical Trial, which was conducted from November 2004 to January 2010, enrolled patients aged 2-40 years, with eGFR ≥40 ml/min per 1.73 m(2) and UP/C >1 mg/mg after ≥4 weeks of corticosteroid therapy. Both groups received lisinopril or losartan throughout …

Indicators Of Family Care For Development For Use In Multicountry Surveys, Patricia Kariger, Edward A. Frongillo Jr., Patrice Engle, Pia M. Rebello Britto, Sara M. Sywulka, Purnima Menon

Faculty Publications

Indicators of family care for development are essential for ascertaining whether families are providing their children with an environment that leads to positive developmental outcomes. This project aimed to develop indicators from a set of items, measuring family care practices and resources important for caregiving, for use in epidemiologic surveys in developing countries. A mixed method (quantitative and qualitative) design was used for item selection and evaluation. Qualitative and quantitative analyses were conducted to examine the validity of candidate items in several country samples. Qualitative methods included the use of global expert panels to identify and evaluate the performance of …

Synchronous And Asynchronous Theta And Gamma Activity During Episodic Memory Formation., John F Burke, Kareem A Zaghloul, Joshua Jacobs, Ryan B Williams, Michael R Sperling, Ashwini D Sharan, Michael J Kahana

Department of Neuroscience Faculty Papers

To test the hypothesis that neural oscillations synchronize to mediate memory encoding, we analyzed electrocorticographic recordings taken as 68 human neurosurgical patients studied and subsequently recalled lists of common words. To the extent that changes in spectral power reflect synchronous oscillations, we would expect those power changes to be accompanied by increases in phase synchrony between the region of interest and neighboring brain areas. Contrary to the hypothesized role of synchronous gamma oscillations in memory formation, we found that many key regions that showed power increases during successful memory encoding also exhibited decreases in global synchrony. Similarly, cortical theta activity …

Community Outreach And Engagement To Prepare For Household Recruitment Of National Children's Study Participants In A Rural Setting, Nancy L. Fahrenwald, Betty Wey, Ann Martin, Bonny L. Specker

Ethel Austin Martin Program Publications

CONTEXT: The National Children's Study (NCS) is a longitudinal study of environmental influences on children's health. Recruitment of a representative birth cohort that will be followed until 21 years of age requires unique approaches across the nationwide study communities.
PURPOSE: To describe community outreach and engagement in preparation for household recruitment of women of childbearing age at a rural-classified NCS location that includes 4 adjacent Northern Plains counties spanning 2,500 square miles.
METHODS: Outreach and engagement methods focused on rural community characteristics. The team established an advisory council, conducted outreach meetings with agencies and groups, participated in local events, and …

Language, Reading, And Math Learning Profiles In An Epidemiological Sample Of School Age Children., Lisa M D Archibald, Janis Oram Cardy, Marc F Joanisse, Daniel Ansari

Brain and Mind Institute Researchers' Publications

Dyscalculia, dyslexia, and specific language impairment (SLI) are relatively specific developmental learning disabilities in math, reading, and oral language, respectively, that occur in the context of average intellectual capacity and adequate environmental opportunities. Past research has been dominated by studies focused on single impairments despite the widespread recognition that overlapping and comorbid deficits are common. The present study took an epidemiological approach to study the learning profiles of a large school age sample in language, reading, and math. Both general learning profiles reflecting good or poor performance across measures and specific learning profiles involving either weak language, weak reading, weak …

Motivating The Unmotivated Child: Using Psychosocial Intervention Methods In The School, Kristi Fickes, Kelsey Hoffmann

Occupational Therapy Capstones

Problem: School-based occupational therapists have reported barriers to working with children with psychosocial needs including a limited knowledge of psychosocial methods (Barnes, Beck, Vogel, Grice, & Murphy, 2003; Case-Smith & Archer, 2008). These issues prevent children with motivational and behavioral issues from receiving the best care possible and, in some cases, from receiving therapy at all.

Methods: An extensive literature review was conducted to understand current utilization of psychosocial strategies in school-based occupational therapy practice, barriers therapists experience in applying these strategies, and effective psychosocial strategies for children with motivational issues. Findings of the literature suggested that continuing education was …

Caregivers Of Children With Disabilities: An Exploratory Study Of Factors Influencing Occupational Therapy Home Programming Engagement, Sara E. Joersz, Rebecca I. Polansky

Occupational Therapy Capstones

Purpose: Home programming for children with disabilities is prescribed frequently by occupational therapists as an effective adjunct to practice-setting occupational therapy. The effectiveness of home programming is largely influenced by the degree to which caregivers (and children) adhere to the home programming parameters. Numerous factors are thought to promote or limit home programming adherence but there is a lack of quantitative research addressing the relationships between these factors and home programming adherence. The purpose of this quantitative, independent study was to explore the factors that are correlated with or influence caregivers’ adherence to their child’s occupational therapy home program. A …

Occupational Therapy Screening Tool For School-Aged Children With Sleep Problems, Jenae Becker, Kathryne Kitchen

Occupational Therapy Capstones

The purpose of this scholarly project was to review the occupational therapy literature and develop a guide to instruct occupational therapists in screening children with sleep problems and associated occupational performance issues.

The primary method used for this project was the use of an extensive literature review of common sleep problems, co-morbidities of sleep problems, the impact of lack of sleep, sleep interventions, and the role of occupational therapy when addressing sleep problems in school-aged children. A number of search engines were utilized including PubMed, CINAHL, PsychInfo, OT Search, OT Seeker, and OT textbooks.

The literature indicated there was a …

A Case Of Childhood Vaccination Barrier: Migrant And Seasonal Farmworkers, İbrahi̇m Koruk, Zeynep Şi̇mşek, Süda Teki̇n Koruk

Turkish Journal of Medical Sciences

The Expanded Program on Immunization has proven to be one of the most effective public health strategies. However, the literature contends that medically disadvantaged groups have been associated with less compliance with vaccination calendars and schedules. The aim of this cross-sectional survey was to investigate the vaccination coverage of the children of migrant and seasonal farmworkers (MSFs) and to identify their specific barriers to vaccination. Materials and methods: A total of 168 children aged 12-23 months were recruited to the study from a primary healthcare center. Data were collected through a structured questionnaire targeting the issues of infant vaccination status, …

The Effects Of Morphophonic Faces As A Method For Teaching Sight Words, Ashley Jean Williams

LSU Master's Theses

Previous studies exploring the use of superimposed pictures for sight word learning provide mixed results, with inconclusive benefits. One criticism is that even when sight word learning is enhanced, it does not improve the learner’s use of the alphabetic principle. A second criticism is that it is only feasible for easily depicted words. This study addressed these criticisms by using pictured sight words representing a hybrid between alphabet and sight word learning, MorphoPhonic Faces (MPF). MPF have the first letter drawn in the mouth of a face suggesting speech production cues. Thus, participants were provided alphabet cues first and then …

A Qualitative Study On The Impact Of Occupational Therapy Mentors On Children From Disadvantaged Homes And The Implications For Future Success, Melinda Cervantes, Jennifer Prevett

Occupational Therapy Capstones

Research into childhood development has shown that the impacts of a traumatic life event can have adverse effects on the development and future success of a child. Traumatic live events can be defined as any experience that varies from a typical pattern of childhood development, for example divorce, death of a parent, addiction concerns, domestic violence, or incarceration of a parent. Often a positive role model cannot be found in these children’s lives, keeping them from reaching success later in life. Researchers have studied the impact of a mentoring relationship on children from disadvantaged homes and have found the mentoring …

Improving Functional Outcomes For Children And Adolescents With Anxiety Related Disorders Through Occupational Thrapy : A Narrative Review ; Perceptions Of The Role Of Occupational Therapy In Community Child And Adolescent Mental Health Services (Camhs), Paula J. Anderson

Theses : Honours

Background/Aim: Children and adolescents experiencing anxiety find it challenging to maintain optimal occupational performance, thus the specific role of occupational therapy in the management of anxiety requires investigation. This narrative review examines the current available literature surrounding the use of occupational therapy approaches for children and adolescents experiencing anxiety.

Methods: Academic journals as well as a variety of sources were considered, due to the paucity of literature surrounding this topic. Articles were included if they discussed the occupational therapy role in treatment of children experiencing anxiety symptoms, including anxiety related disorders such as post traumatic stress disorder (PTSD) and obsessive …

Long-Term Persistency And Costs Associated With The Use Of Iron Chelation Therapies In The Treatment Of Sickle Cell Disease Within Medicaid Programs., Edward P Armstrong, Grant H Skrepnek, Medha Sasane, Susan M Snodgrass, Samir K. Ballas

Department of Medicine Faculty Papers

OBJECTIVE: This retrospective study evaluated iron chelating therapy (ICT) discontinuation and costs in Sickle cell disease (SCD) Medicaid recipients using healthcare claims from 2006-2010.

METHODS: Patients with ≥1 SCD diagnosis claim, ≥2 claims for deferoxamine (DFO) or deferosirox (DFX), and continuous enrollment ≥6 months prior to and 18 months following ICT initiation were included. Outcomes included treatment discontinuation, persistence (i.e., refill gaps ≥6 weeks), and total healthcare costs.

RESULTS: The average age among 404 SCD patients meeting study inclusion criteria was 18.7 (±11.0) years, with 45.8% being males and 66.7% being Blacks. Switches or combinations from DFO at index occurred …

Perventricular Device Closure Of Residual Muscular Ventricular Septal Defects After Repair Of Complex Congenital Heart Defects In Pediatric Patients, Da Zhu, Kaiyu Tao, Qi An, Shuhua Luo, Changping Gan, Ke Lin

The Texas Heart Institute Journal

Residual muscular ventricular septal defects are surgical challenges, especially after the repair of complex congenital heart defects. We investigated perventricular device closure as a salvage technique in pediatric patients who had postoperative residual muscular ventricular septal defects.

From February 2009 through June 2011, 14 pediatric patients at our hospital had residual muscular ventricular septal defects after undergoing surgical repair of complex congenital heart defects. Ten patients met our criteria for perventricular device closure of the residual defects: significant left-to-right shunting (Qp/Qs >1.5) or substantial hemodynamic instability (a defect ≥2 mm in size). The patients' mean age was 20.4 ± 13.5 …

Retrospective Evaluation Of 104 Tinea Capitis Cases, Ömer Çalka, Serap Güneş Bi̇lgi̇li̇, Ayşe Serap Karadağ, Sevda Önder

Turkish Journal of Medical Sciences

Tinea capitis is a superficial scalp dermatophyte infection. Tinea capitis is particularly seen during childhood and is not usually seen after puberty. In untreated cases, it can be contagious and can progress to cicatricial alopecia. This study aimed to retrospectively evaluate cases of tinea capitis. Materials and methods: We evaluated 104 tinea capitis patients presenting to our dermatology clinic between 2007 and 2011. Results: Of these patients, 38 (36.5%) were female and 66 (63.5%) were male. The median age was 6.41 ± 3.4 years (range: 1-18 years old). The clinical types appearing in descending order were tinea capitis profunda (88.5%), …

Osteosarcoma Tumor Thrombus: A Case Report With A Review Of The Literature, Pournima Navalkele, Sarah M Jones, Jason K Jones, Jorge D Salazar, Patrick C Toy, Rathi V Iyer, Betty Herrington

The Texas Heart Institute Journal

Tumor thrombus arising from osteosarcoma is rare. We report the case of a 20-year-old man with proximal humerus osteosarcoma, accompanied by an extensive intravascular tumor thrombus extending into the heart. Our review of the literature found 14 previous reports on osteosarcoma with tumor thrombus. The combination of positron emission tomography and computed tomography is very useful in differentiating tumor thrombus from vascular thrombus, thereby avoiding unnecessary anticoagulation therapy. This same imaging combination can also be used to evaluate the response to treatment. Surgical resection of the tumor thrombus is highly recommended. The effect of tumor thrombus on survival is still …

Preventing Sudden Cardiac Death In Athletes: In Search Of Evidence-Based, Cost-Effective Screening, Paolo Angelini, Mladen I Vidovich, Christine E Lawless, Macarthur A Elayda, J Alberto Lopez, Dwayne Wolf, James T Willerson

The Texas Heart Institute Journal

Sudden cardiac death in athletes is a recurrent phenomenon at sporting events and during training. Recent studies have associated sudden cardiac death with such cardiovascular conditions as coronary artery anomalies, cardiomyopathies, and electrocardiographic abnormalities, most of which are screenable with modern imaging techniques. We recently inaugurated the Center for Coronary Artery Anomalies at the Texas Heart Institute, which is dedicated to preventing sudden cardiac death in the young and investigating coronary artery anomalies. There, we are conducting 2 cross-sectional studies intended to firmly establish and quantify, in a large group of individuals from a general population, risk factors for sudden …

Brief Oral Health Promotion Intervention Among Parents Of Young Children To Reduce Early Childhood Dental Decay, Peter Arrow, Joseph Raheb, Margaret Miller

Research outputs 2013

Background: Severe untreated dental decay affects a child's growth, body weight, quality of life as well as cognitive development, and the effects extend beyond the child to the family, the community and the health care system. Early health behavioural factors, including dietary practices and eating patterns, can play a major role in the initiation and development of oral diseases, particularly dental caries. The parent/caregiver, usually the mother, has a critical role in the adoption of protective health care behaviours and parental feeding practices strongly influence children's eating behaviours. This study will test if an early oral health promotion intervention through …

Micronutrient Fortification Of Food And Its Impact On Woman And Child Health: A Systematic Review, Jai K. Das, Rehana A. Salam, Rohail Kumar, Zulfiqar A. Bhutta

Department of Paediatrics and Child Health

Background: Vitamins and minerals are essential for growth and metabolism. The World Health Organization estimates that more than 2 billion people are deficient in key vitamins and minerals. Groups most vulnerable to these micronutrient deficiencies are pregnant and lactating women and young children, given their increased demands. Food fortification is one of the strategies that has been used safely and effectively to prevent vitamin and mineral deficiencies.
Methods: A comprehensive search was done to identify all available evidence for the impact of fortification interventions. Studies were included if food was fortified with a single, dual or multiple micronutrients and impact …

Influence Of Body Mass Index And Antibiotic Dose On The Risk Of Surgical Site Infections In Pediatric Clean Orthopedic Surgery., Jeffrey J Cies, Shannon Chan, Jobayer Hossain, B Randall Brenn, M Cecilia Di Pentima

Department of Anesthesiology Faculty Papers

OBJECTIVE: To evaluate body mass index (BMI) and antimicrobial dose as risk factors for surgical site infections in pediatric patients.

PATIENTS AND METHODS: Children between 2 and 19 years of age undergoing clean orthopedic procedures and receiving at least one dose of perioperative antibiotics (cefazolin, vancomycin, or clindamycin) were studied. The retrospective case-controlled study was conducted at the Alfred I. duPont Hospital for Children, a 180-bed tertiary-care academic pediatric hospital in Wilmington, DE. Data were collected from January 1, 2002, to December 31, 2005.

RESULTS: Underweight children had a higher risk for SSIs than overweight and normal-weight children. American Society …

Effect Of Voxel Size On The Accuracy Of 3d Reconstructions With Cone Beam Ct., Delphine Maret, Norbert Telmon, Ove A. Peters, B. Lepage, J. Treil, J. M. Inglèse, A. Peyre, Jean-Luc Kahn, Michel Sixou

All Dugoni School of Dentistry Faculty Articles

OBJECTIVES: The various types of cone beam CT (CBCT) differ in several technical characteristics, notably their spatial resolution, which is defined by the acquisition voxel size. However, data are still lacking on the effects of voxel size on the metric accuracy of three-dimensional (3D) reconstructions. This study was designed to assess the effect of isotropic voxel size on the 3D reconstruction accuracy and reproducibility of CBCT data.

METHODS: The study sample comprised 70 teeth (from the Institut d'Anatomie Normale, Strasbourg, France). The teeth were scanned with a KODAK 9500 3D® CBCT (Carestream Health, Inc., Marne-la-Vallée, France), which has two voxel …