Medical Specialties Commons^™

Eight Years After An International Workshop On Myotonic Dystrophy Patient Registries: Case Study Of A Global Collaboration For A Rare Disease., Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha El Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel Van Engelen, Stanislav Vohanka, Hanns Lochmüller

Paediatrics Publications

Background

Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess …

A Qualitative Examination Of Women's Self-Presentation And Social Physique Anxiety During Injury Rehabilitation, Molly V. Driediger, Craig R. Hall, Carly D. Mckay

Paediatrics Publications

No abstract provided.

Compound Heterozygosity For A Whole Gene Deletion And P.R124c Mutation In Cyp21a2 Causing Nonclassic Congenital Adrenal Hyperplasia, Hamza Nasir, Syed Ibaad Ali, N Haque, Stefan K. Grebe, Salman Kirmani

Section of Diabetes, Endocrinology and Metabolism

We present a family with 2 members who received long-term steroid treatment for presumed classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, until molecular testing revealed nonclassic CAH, not necessarily requiring treatment. A 17-year-old male presented to our clinic on glucocorticoid and mineralocorticoid treatment for classic CAH. He was diagnosed at 4 years of age based on mild-moderate elevations of 17-hydroxyprogesterone (17-OHP) and adrenocorticotropic hormone (ACTH), but without evidence of precocious adrenarche/puberty. Due to his diagnosis, his clinically asymptomatic 3-year-old sister was tested and also found to have elevated ACTH and 17-OHP levels and was started on glucocorticoids for …

Reducing Typhoid Burden Within A Generation, Zulfiqar Ahmed Bhutta, Anita K. M. Zaidi, Tikki Pangestu

Department of Paediatrics and Child Health

No abstract provided.

Fungal Osteomyelitis In A Patient With Chronic Granulomatous Disease: Case Report And Review Of The Literature, Muhammad Khalid, Syed Asad Ali

Department of Paediatrics and Child Health

Chronic granulomatous disease (CGD) is the most common of the primary immunodeficiency in children. It is caused by single gene defect resulting in dysfunctional nicotinamide adenine dineucleotide phosphate (NADPH) oxidase complex causing recurrent bacterial and fungal infections. Here we present the case of a 9 year old boy who was a known case of CGD since three years of age. He presented with recent history of fever, left sided pain in the scapular region and difficulty in breathing. Chest imaging revealed developing left upper lobe consolidation and erosion of the 3rd posterior rib. The child underwent video assisted thoracoscopic surgery …

Invasive Community Acquired Methicillin-Resistant Staphylococcal Aureus (Ca-Mrsa) Infections In Children, Muhammad Khalid, Samina Junejo, Fatima Mir

Department of Paediatrics and Child Health

Staphylococci are gram-positive bacteria divided into coagulase positive and coagulase negative classes, Staphylococcus aureus is the most important bacterium of this class. Epidemiology of methicillin-resistant Staphylococcus aureus (MRSA) has changed a lot. It is no more the problem of only hospitalised patients. Children coming from community has also been increasingly affected by MRSA-called community acquired methicillin-resistant (CA-MRSA) infection. The higher severity of CA-MRSA is due to its ability to produce the toxin Panton-Valentine Leukocidin (PVL) associated with staphylococcal cassette chromosome mec (SCCmec) type IV gene. Here, we are presenting five cases of CA-MRSA infection in children having age range 0.5 …

Does A Step Back Approach To The Implementation Of Project Spraoi Affect The Health And Fundamental Movement Skill Proficiency Of Irish Children?, Conor Hemmersley

Masters

Title: Does a step back approach to the implementation of Project Spraoi affect the health and fundamental movement skill proficiency of Irish children? Background: Project Spraoi is an intervention which attempts to positively influence the overall health of Irish primary school children. Previous iterations of Project Spraoi have been labour intensive with an Energiser working with a maximum of two schools to deliver the intervention. The purpose of this research was to evaluate the effectiveness of the intervention on fundamental movement skills (FMS), and markers of health of Irish primary school children using a step back approach. The step back …

Developmental Intervention Patterns In A Level Iv Neonatal Intensive Care Unit (Nicu), Grace Winningham, Cy Nadler, Sarah Nyp, Eugenia K. Pallotto, Ashley Sherman

Posters

Background: There are no evidence-based standards for if/when developmental interventions should be initiated while an infant is in the neonatal intensive care unit (NICU), or these services yield incremental benefit. To support future prospective studies evaluating the neurodevelopmental benefits of NICU-based services as well as standardizing protocols for developmental interventions in the NICU, a thorough descriptive investigation of current developmental intervention practices is necessary. Objective: To describe trends in the delivery of developmental interventions [physical therapy (PT), occupational therapy (OT), speech-language therapy (ST), child life (CL), and music therapy (MT)] in high-risk infants in a large level-IV NICU. Methods: Electronic …

Social Work Triage In A School District For The School Year 2017-2018, Libby Milkovich, Briana A. Woods-Jaeger, Allison Zoromski Phd

Posters

Purpose: One in 7 children ages 2-8 have a behavioral, mental or developmental diagnosis. The prevalence of mental health disorders increases in adolescence to over 20%. Only 36% of youth who have a mental health disorder in their lifetime receive treatment. School-based services can address barriers to care. The purpose of this study was to determine the frequency and indication of referrals for students to 19 hospital-employed clinical social workers placed within a school district during one academic year (2017- 2018) and how the indication varies with level of schooling.

Methods: Students were referred to social workers by self, classmates …

Development And Implementation Of A Mobile Device-Based Pediatric Electronic Decision Support Tool As Part Of A National Practice Standardization Project, Russell J. Mcculloh, Sarah Fouquet, Joshua Herigon, Eric A. Biondi, Brandan Kennedy, Ellen Kerns, Adrienne G. Deporre, Jessica L. Markham, Y Raymond Chan, Krista Nelson, Jason G. Newland

Manuscripts, Articles, Book Chapters and Other Papers

© The Author(s) 2018.

Objective: Implementing evidence-based practices requires a multi-faceted approach. Electronic clinical decision support (ECDS) tools may encourage evidence-based practice adoption. However, data regarding the role of mobile ECDS tools in pediatrics is scant. Our objective is to describe the development, distribution, and usage patterns of a smartphone-based ECDS tool within a national practice standardization project.

Materials and Methods: We developed a smartphone-based ECDS tool for use in the American Academy of Pediatrics, Value in Inpatient Pediatrics Network project entitled "Reducing Excessive Variation in the Infant Sepsis Evaluation (REVISE)." The mobile application (app), PedsGuide, was developed using evidence-based …

Maternal Predictors Of Intrauterine Growth Retardation, Nadia Mohammad, Arjumand Sohaila, Unaib Rabbani, Sufian Ahmed, Shakeel Ahmed, Syed Rehan Ali

Department of Paediatrics and Child Health

Objective: To identify maternal factors associated with intrauterine growth restriction (IUGR).
Study Design: A case-control study.
Place and Duration of Study: Neonatal Unit of The Aga Khan Hospital for Women (AKHW), Karimabad, from January 2014 to December 2015.
Methodology: Cases were IUGR live born babies (n=90), while control were appropriate-for-gestational age (AGA) babies (n=180). Information recorded in pre-designed proforma included gestational age and birth weight of baby, demographics of mothers, pregnancy related medical and obstetric complications. Data were analysed through SPSS-19. Multivariable logistic regression was used to determine the maternal factors associated with the intrauterine growth restriction.
Results: Maternal factors …

Needs Assessment For Curricular Reform Of A Post Graduate Paediatric Training Programme At A Private University Hospital In Karachi, Pakistan, Sana Saeed, Khadija N. Humayun, Farah Qamar, Arshalooz Rahman, Kashif Karim

Department of Paediatrics and Child Health

In order to make and sustain changes in the curriculum, needs assessment is the key. We conducted a need assessment survey using a questionnaire based on a 7 point Likert Scale by residents and alumni. Over all response rate in the study was 77.5%. Fifty eight percent participants were females. Highest level of agreement (mean score 5.7) was found between the alumni and residents regarding the need to revise the content, teaching and assessment strategies in the programme. Twenty seven alumni (n= 38, 71%) had cleared their FCPS exams. The alumni thought that the existing teaching and assessment strategies do …

Pathophysiology Of Environmental Enteric Dysfunction And Its Impact On Oral Vaccine Efficacy, Chelsea Marie, Syed Asad Ali, Kanta Chandwe, William Petri Jr A, Paul Kelly

Department of Paediatrics and Child Health

Environmental enteric dysfunction (EED) refers to a subclinical disorder of intestinal function common in tropical countries and in settings of poverty and economic disadvantage. The enteropathy that underlies this syndrome is characterized by mucosal inflammation and villus blunting mediated by T cell activation. Epithelial cell disruption and microbial translocation drive systemic inflammation. EED in young children is associated geographically with growth failure, malnutrition, and greatly impaired responses to oral vaccines, notably rotavirus and poliovirus vaccines. In this review, we describe the pathophysiology of EED and examine the evidence linking EED and oral vaccine failure. This evidence is far from conclusive. …

App21 Transgenic Rats Develop Age-Dependent Cognitive Impairment And Microglia Accumulation Within White Matter Tracts., Nina Weishaupt, Qingfan Liu, Sheojung Shin, Ramandeep Singh, Yuksel Agca, Cansu Agca, Vladimir Hachinski, Shawn Narain Whitehead

Paediatrics Publications

Background

Most of the animal models commonly used for preclinical research into Alzheimer's disease (AD) largely fail to address the pathophysiology, including the impact of known risk factors, of the widely diagnosed sporadic form of the disease. Here, we use a transgenic rat (APP21) that does not develop AD-like pathology spontaneously with age, but does develop pathology following vascular stress. To further the potential of this novel rat model as a much-needed pre-clinical animal model of sporadic AD, we characterize APP21 transgenic rats behaviorally and histologically up to 19 months of age.

Methods

The open field test was used as …

Keep Calm And Carry On: Parental Opinions On Improving Clinical Dietary Trials For Young Children, Analise Nicholl, Therese O'Sullivan

Research outputs 2014 to 2021

Recruitment can be an issue for paediatric research. We aimed to investigate parental opinions of paediatric clinical assessments, and to combine findings with recent literature to inform the design of a clinical dietary trial. We used convenience sampling to recruit 17 parents of children aged 2⁻6 years from two community playgroups in Perth, Western Australia. Three focus groups considered proposed child assessments, study design, and potential study enrolment. Qualitative thematic analysis of focus group transcripts used NVivo 11 (QSR, Melbourne, VIC, Australia). Four main parental concerns emerged, presented here with solutions combining parent responses and relevant literature. (1) Parent and …

The Early Steps Project: Occupational Therapy In A Pediatric Primary Care Setting, Anne H. Zachry, J. Flick, P. Richey

Faculty Presentations

The purpose of this study is expand on the Early STEPs project goal of identifying early developmental delays in infants and young children in a health disparate population and to collect preliminary data to lay the groundwork for a future NIH grant proposal. Individuals with less education have poor health and shorter life expectancies than well-educated individuals, and research reveals that poverty is directly related to limited education. An innovative approach is needed to overcome barriers, improve health literacy, and educate parents on effective parenting strategies for this population. Technology may be the part of the solution to this issue. …

“You Travel Faster Alone, But Further Together”: Learning From A Cross Country Research Collaboration From A British Council Newton Fund Grant, Priscilla Reddy, Rachana Desai, Sibusiso Sifunda, Kalipso Chalkidou, Charles Hongoro, William Macharia, Helen Roberts

Faculty of Health Sciences, East Africa

Abstract: Providing universal health coverage (UHC) through better maternal, neonatal, child and adolescent health (MNCAH) can benefit both parties through North–South research collaborations. This paper describes lessons learned from bringing together early career researchers, tutors, consultants and mentors from the United Kingdom, Kenya, and South Africa to work in multi-disciplinary teams in a capacity-building workshop in Johannesburg, co-ordinated by senior researchers from the three partner countries. We recruited early career researchers and research users from a range of sectors and institutions in the participating countries and offered networking sessions, plenary lectures, group activities and discussions. To encourage bonding and accommodate …

Intestinal Carriage Of Third-Generation Cephalosporin-Resistant And Extended-Spectrum Β-Lactamase-Producing Enterobacteriaceae In Healthy Us Children., Shamim Islam, Rangaraj Selvarangan, Neena Kanwar, Rendie Mchenry, James D. Chappell, Natasha Halasa, Mary E. Wikswo, Daniel C. Payne, Parvin H. Azimi, L Clifford Mcdonald, Oscar G. Gomez-Duarte

Manuscripts, Articles, Book Chapters and Other Papers

Background: The epidemiology of antibiotic-resistant Enterobacteriaceae intestinal carriage in healthy US children has not been well characterized.

Methods: Children between 14 days and 14 years of age were enrolled during well-child visits in Oakland, California, Kansas City, Kansas, and Nashville, Tennessee, between December 2013 and March 2015. Data on recent antibiotic use by the child and travel and hospitalization history of all members of each child's household were obtained with a risk-factor survey. Stool specimens collected from the subjects were screened for extended-spectrum β-lactamase-producing (ESBL-P) bacteria using CHROMagar ESBL medium. Putative ESBL-P Escherichia coli and Klebsiella colonies underwent phenotypic confirmation …

Screening Tools In Adolescent Health Care, David L. Wood

ETSU Faculty Works

Learning Objectives: (1) Identify three primary care friendly screening tools useful for identifying behavioral health concerns in adolescents. (2) Describe how a "champion" (quality improvement) team can help facilitate implementation of a screener in a primary care.

Improving Follow-Up Skeletal Survey Compliance In Suspected Nonaccidental Trauma Patients: What's The Fuss About?, Tong Gan, John M. Draus Jr.

Surgery Faculty Publications

Introduction: Nonaccidental trauma (NAT) victims account for a significant percentage of our pediatric trauma population. The skeletal survey (SS) and follow-up skeletal survey (FUSS) are essential in the evaluation of selected NAT patients. We identified that our clinically indicated FUSS completion rate was suboptimal. We hypothesized that implementing an intervention of postdischarge follow-up in our pediatric surgery clinic would improve FUSS completion rates. Methods: A follow-up clinic for NAT patients was established in July 2013. A retrospective review was performed of all suspected NAT cases younger than 2 years old seen at Kentucky Children’s Hospital between November 2012 and February …

Progression Of Gastric Acid Production In Preterm Neonates: Utilization Of In-Vitro Method, Murali R. Palla, Shashidhar Harohalli, Tim N. Crawford, Nirmala Desai

Pediatrics Faculty Publications

Background: Limited studies are done regarding ability to produce gastric acid in preterm infants and most studies used in vivo method of assessing gastric pH.

Objectives: To assess the feasibility of using an in vitro method of measuring gastric pH in babies ≤ 28 weeks gestational age (GA) and determine whether changes in gastric pH differ with gestational age, mode of delivery, and use of antenatal steroids.

Design/Methods: Prospective study that enrolled extremely low birth weight (ELBW) babies. Gastric aspirate collected before feeding. In vitro testing of gastric aspirates for pH were done on days of life 1, 3, 5, …

Low Agreement Between Modified-Schwartz And Ckd-Epi Egfr In Young Adults: A Retrospective Longitudinal Cohort Study., Michael Webster-Clark, Byron Jaeger, Yi Zhong, Guido Filler, Ana Alvarez-Elias, Nora Franceschini, Maria E Díaz-González De Ferris

Paediatrics Publications

Background

While there is a great deal of research updating methods for estimating renal function, many of these methods are being developed in either adults with CKD or younger children. Currently, there is limited understanding of the agreement between the modified new bedside Schwartz estimated glomerular filtration rate (eGFR) formula and the adult CKD-EPI formula in adolescents and young adults (AYAs) with chronic kidney disease (CKD) measured longitudinally.

Methods

Longitudinal cohort study of 242 patients (10-30 years) with CKD, followed retrospectively in a single tertiary centre as they transitioned from the paediatric- to adult-focused settings. The study population came from …

Epidemiology Of Patients Presenting To A Pediatric Emergency Department In Karachi, Pakistan, Nadir Ijaz, Matthew Strehlow, N. Ewen Wang, Elizabeth Pirrotta, Areeba Tariq, Naseeruddin Mahmood, Swaminatha Mahadevan

Department of Paediatrics and Child Health

Background: There is little data describing pediatric emergencies in resource-poor countries, such as Pakistan. We studied the demographics, management, and outcomes of patients presenting to the highest-volume, public, pediatric emergency department (ED) in Karachi, Pakistan.
Methods: In this prospective, observational study, we approached all patients presenting to the 50-bed ED during 28 12-h study periods over four consecutive weeks (July 2013). Participants’ chief complaints and medical care were documented. Patients were followed-up at 48-h and 14-days via telephone. Results: Of 3115 participants, 1846 were triaged to the outpatient department and 1269 to the ED. Patients triaged to the ED had …

An Eqtl Landscape Of Kidney Tissue In Human Nephrotic Syndrome., Christopher E. Gillies, Rosemary Putler, Rajasree Menon, Edgar Otto, Kalyn Yasutake, Viji Nair, Paul Hoover, David Lieb, Shuqiang Li, Sean Eddy, Damian Fermin, Michelle T. Mcnulty, Nephrotic Syndrome Study Network (Neptune), Nir Hacohen, Krzysztof Kiryluk, Matthias Kretzler, Xiaoquan Wen, Matthew G. Sampson, Tarak Srivastava

Manuscripts, Articles, Book Chapters and Other Papers

Expression quantitative trait loci (eQTL) studies illuminate the genetics of gene expression and, in disease research, can be particularly illuminating when using the tissues directly impacted by the condition. In nephrology, there is a paucity of eQTL studies of human kidney. Here, we used whole-genome sequencing (WGS) and microdissected glomerular (GLOM) and tubulointerstitial (TI) transcriptomes from 187 individuals with nephrotic syndrome (NS) to describe the eQTL landscape in these functionally distinct kidney structures. Using MatrixEQTL, we performed cis-eQTL analysis on GLOM (n = 136) and TI (n = 166). We used the Bayesian "Deterministic Approximation of Posteriors" (DAP) to fine-map …

Conjunctivitis, Infant >/= 29 Days Of Age Or Child, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Magnetic Resonance Imaging In The Diagnosis Of White Matter Signal Abnormalities., Ravi Datar, Asuri Narayan Prasad, Keng Yeow Tay, Charles Anthony Rupar, Pavlo Ohorodnyk, Michael Miller, Chitra Prasad

Paediatrics Publications

Background White matter abnormalities (WMAs) pose a diagnostic challenge when trying to establish etiologic diagnoses. During childhood and adult years, genetic disorders, metabolic disorders and acquired conditions are included in differential diagnoses. To assist clinicians and radiologists, a structured algorithm using cranial magnetic resonance imaging (MRI) has been recommended to aid in establishing working diagnoses that facilitate appropriate biochemical and genetic investigations. This retrospective pilot study investigated the validity and diagnostic utility of this algorithm when applied to white matter signal abnormalities (WMSAs) reported on imaging studies of patients seen in our clinics. Methods The MRI algorithm was applied to …

The Antepartum Stillbirth Syndrome: Risk Factors And Pregnancy Conditions Identified From The Intergrowth-21, J E Hirst, J Villar, C G Victora, A T Papageorghiou, D Finkton, F C Barros, M G Gravett, F Giuliani, M Purwar, I O Frederick, R Pang, L Cheikh Ismail, A Lambert, W Stones, Y A Jaffer, D G Altman, J A Noble, E O Ohuma, S H Kennedy, Z A Bhutta

Articles, Abstracts, and Reports

OBJECTIVES: To identify risk factors for antepartum stillbirth, including fetal growth restriction, among women with well-dated pregnancies and access to antenatal care.

DESIGN: Population-based, prospective, observational study.

SETTING: Eight international urban populations.

POPULATION: Pregnant women and their babies enrolled in the Newborn Cross-Sectional Study of the INTERGROWTH-21

METHODS: Cox proportional hazard models were used to compare risks among antepartum stillborn and liveborn babies.

MAIN OUTCOME MEASURES: Antepartum stillbirth was defined as any fetal death after 16 weeks' gestation before the onset of labour.

RESULTS: Of 60 121 babies, 553 were stillborn (9.2 per 1000 births), of which 445 were antepartum …

2018-2019 Pediatric Subspecialty Trainees, Children's Mercy Hospital

Residents and Fellows Portraits

Photo composites of the graduate pediatric trainees in allergy/immunology, child abuse pediatrics, child neurology, clinical child psychology, coagulation, developmental-behavioral pediatrics, epilepsy, hospice & palliative care, neonatal-perinatal medicine, pediatric adolescent gynecology, pediatric anesthesiology, pediatric bioethics, pediatric cardiology, pediatric clinical pharmacology, pediatric critical care medicine, pediatric dentistry, pediatric emergency medicine, pediatric endocrinology, pediatric gastroenterology, pediatric hematology/oncology, pediatric hospital medicine, pediatric infectious diseases, pediatric nephrology, pediatric ophthalmology, pediatric optometry, pediatric otolaryngology, pediatric pathology, pediatric pulmonology, pediatric radiology, pediatric rehabilitation, pediatric sleep medicine, pediatric sports medicine, pediatric surgery, pediatric residency and med/peds residency

Comparison Of Neonatal Outcomes Between Category-1 And Non-Category-1 Primary Emergency Cesarean Section: A Retrospective Record Review In A Tertiary Care Hospital, Dureshahwar Kanwar, Iffat Ahmed, Azra Amerjee, Zahra Hoodbhoy

Department of Obstetrics & Gynaecology

Objective: To compare neonatal outcomes between Category-1 and Non-Category-1 Primary Emergency Cesarean Section.
Methods: This was a retrospective analysis, conducted at Aga Khan University Hospital Karachi from January 1st 2016 till December 31st 2016. Non-probability purposive sampling technique was used. A sample size of 375 patients who had primary Emergency Caesarean Section (Em-CS) was identified by keeping CS rate of 41.5% and 5% bond on error. Data was collected from labor ward, operating theatre and neonatal ward records by using structured questionnaire.
Results: In the current study, out of 375 participants who underwent primary Em-CS; majority (89.3%) were booked cases. …

Review Of Karyotypic Data From Low Grade Glial Brain Tumors, Specifically Pilocytic Astrocytomas, And Correlation Of Genetic Aberrations With Tumor Recurrence., Linda D. Cooley, Scott C. Smith, Lisa Warren, Melissa Gener, Kevin Ginn, John Herriges

Posters

Abstract: Brain tumors are the most common solid tumor of childhood. Approximately 50% of pediatric CNS tumors are low grade gliomas (WHO grade I or II) and Pilocytic astrocytoma (PA) is the most common accounting for 33% of all gliomas in children 0-14 years and ~18% of all childhood brain tumors. Prognosis with this slow-growing tumor is excellent; 10 year overall survival of ~95%. However, event free survival averages ~50%. Patient age and extent of tumor resection are key prognostic factors; tumor location and size impact resection and outcome. Histopathological features indicate PA is a benign tumor and rarely are …