Medical Specialties Commons^™

Pathogenic Variants In Kptn Gene Identified By Clinical Whole-Genome Sequencing, Isabelle Thiffault, Andrea Atherton, Bryce Heese, Ahmed Abdelmoity, Kailash Pawar, Emily G. Farrow, Lee Zellmer, Neil A. Miller, Sarah E. Soden, Carol J. Saunders

Manuscripts, Articles, Book Chapters and Other Papers

Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is often delayed or missed. The mortality for convulsive status epilepticus is dependent on the underlying aetiologies and the age of the patients and thus varies from study to study. In this context, effective molecular diagnosis in a pediatric patient with a genetically heterogeneous phenotype is essential. Homozygous or compound heterozygous variants in KPTN have been recently associated with a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. We describe a comprehensive investigation of a 9-yr-old male patient who was admitted to the intensive care …

Impact Of Conflict On Maternal And Child Health Service Delivery: A Country Case Study Of Afghanistan, Mohammed Shafiq Mirzazada, Zahra Ali Padhani, Sultana Jabeen, Malika Fatima, Arjumand Rizvi, Uzair Ansari, Jai K. Das, Zulfiqar Ahmed Bhutta

Woman and Child Health

Introduction: Since decades, the health system of Afghanistan has been in disarray due to ongoing conflict. We aimed to explore the direct effects of conflict on provision of reproductive, maternal, newborn, child and adolescent health and nutrition (RMNCAH&N) services and describe the contextual factors influencing these services.
Method: We conducted a quantitative analysis of secondary data on RMNCAH&N indicators and undertook a supportive qualitative study to help understand processes and contextual factors. For quantitative analysis, we stratified the various provinces of Afghanistan into minimal-, moderate- and severe conflict categories based on battle-related deaths from Uppsala Conflict Data Program (UCDP) and …

Idiopathic Pulmonary Hemosiderosis - A Rare Cause Of Chronic Anemia, Ayesha Butt, Rashida Ahmed, Muhammad Dawood Amir Sheikh, Omar Khan, Nousheen Iqbal, Arshalooz Rahman, Javaid Khan

Medical College Documents

Idiopathic pulmonary hemosiderosis (IPH) is a rare disease marked by alveolar bleeding and accumulation of hemosiderin in the lungs. Here we present three cases of IPH. The first case is of a 26-year-old male with anemia, hemoptysis and dyspnea. Bronchoscopy confirmed diffuse alveolar hemorrhage (DAH). A diagnosis of IPH was made after ruling out other causes of DAH and observing good response to steroids. The patient's condition improved with prednisolone and azathioprine. The second case is of 26-year-old female with severe anemia. Imaging suggested IPH and lung biopsy confirmed it. She died shortly afterwards. The third case is of a …

Facing Real-World Challenges Of Immunogenicity In Pediatric Inflammatory Bowel Disease., Kyle Gress, Julie A. Bass, Ryan S Funk, Ryan Morrow, Rachel Hasenkamp, Valentina Shakhnovich

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Psychometric Properties Of Segmental Assessment Of Trunk Control In Infants And Toddlers With Down Syndrome., Megan Flores, Katy Mitchell, Christina Bickley, Carolyn P. Da Silva

Physical Therapy Collection

Purpose: This study investigated infants and toddlers with Down syndrome (DS) to determine: reliability of the Segmental Assessment of Trunk Control (SATCo), concurrent validity of the SATCo with the Gross Motor Function Measure (GMFM), and whether age and SATCo score predict GMFM score.

Methods: Eighteen infants and toddlers with DS were tested on the SATCo by 2 physical therapist (PT) raters. One PT rater administered the GMFM. After 2 weeks, PT raters rescored their recorded SATCo sessions. A third PT rater also scored the SATCo videos.

Results: Interrater reliability of the SATCo was moderate to good and …

Intergrowth-21st Project International Inter-Nda Standards For Child Development At 2 Years Of Age: An International Prospective Population-Based Study, Michelle Fernandes, José Villar, Alan Stein, Eleonora Staines Urias, Cutberto Garza, Cesar G. Victora, Fernando C. Barros, Enrico Bertino, Manorama Purwar, Maria Carvalho, Zulfiqar Ahmed Bhutta

Woman and Child Health

Objectives: To describe the construction of the international INTERGROWTH-21st Neurodevelopment Assessment (INTER-NDA) standards for child development at 2 years by reporting the cognitive, language, motor and behaviour outcomes in optimally healthy and nourished children in the INTERGROWTH-21st Project.
Design: Population-based cohort study, the INTERGROWTH-21st Project.
Setting: Brazil, India, Italy, Kenya and the UK.
Participants: 1181 children prospectively recruited from early fetal life according to the prescriptive WHO approach, and confirmed to be at low risk of adverse perinatal and postnatal outcomes.
Primary measures: Scaled INTER-NDA domain scores for cognition, language, fine and gross motor skills and behaviour; vision outcomes measured …

Fri0547 The Effect Of Corrected Inflammation, Oxidative Stress And Endothelial Dysfunction On Fmd Levels In Patients With Selected Chronic Diseases: A Quasi-Experimental Study., Mahmut Ilker Yilmaz, Micol Romano, Mustafa Kemal Basarali, Abdelbaset Elzagallaai, Murat Karaman, Zeynep Demir, Muhammet Fatih Demir, Fatih Akcay, Melik Seyrek, Nuri Haksever, David Piskin, Rolando Cimaz, Michael Rieder, Erkan Demirkaya

Paediatrics Publications

While the pathophysiology of chronic disorders varies there are three basic mechanisms - inflammation, oxidative stress and endothelial dysfunction - that are common in many chronic diseases. However, the failure of these mechanisms to work synchronously can lead to morbidity complicating the course of many chronic diseases. We analyzed data of 178 patients from cohorts with selected chronic diseases in this quasi-experimental study. Endothelial dysfunction was determined by flow-mediated dilatation (FMD) and asymmetric dimethylarginine (ADMA) levels. Serum ADMA, high sensitive C-reactive protein (hs-CRP), serum PTX3, malondialdehyde (MDA), Cu/Zn-superoxide dismutase (Cu/Zn-SOD), glutathione peroxidase (GSH-Px) levels and FMD were studied in baseline …

Teachers’ Perceptions And Understanding Of Children’S Fluid Intake, Kristy Howells, Tara Coppinger

Publications

No public health data exists on elementary teachers’ perceptions of both their own fluid intake and of their elementary school aged children’s fluid intake. A total of 271 (20 males, 251 females) teachers in developed areas of Australia, Belgium, England, Ireland, United Arab Emirates, and the United States of America completed an online questionnaire (Feb–Mar 2019) on: (i) their fluid intake, (ii) their perception and understanding of children’s fluid intake and (iii) barriers in the school day that they felt prevented school children consuming fluids. Overall, the data indicated that teachers consume considerably lower amounts than recommended themselves, but have …

Progressive Stridor: Extraintestinal Airway Manifestations In A Pediatric Patient With Inflammatory Bowel Disease, Kaitlyn Kuntzman Do, Sri Kiran Chennupati Md, Catherine April Bingham Md, Naser Tolaymat Md, Lauren Greenawald Do

Department of Pediatrics

No abstract provided.

Evaluation Of Pediatric Patients Diagnosed With Lyme Disease In The Lehigh Valley, Katiemarie Vottero Do, Jessica Phan, Kris Rooney Md, Tibisay Villalobos Md, Kristin M. Held Wheatley Pharmd, Bcop

Department of Pediatrics

No abstract provided.

The Effect Of Corrected Inflammation, Oxidative Stress And Endothelial Dysfunction On Fmd Levels In Patients With Selected Chronic Diseases: A Quasi-Experimental Study., Mahmut Ilker Yilmaz, Micol Romano, Mustafa Kemal Basarali, Abdelbaset Elzagallaai, Murat Karaman, Zeynep Demir, Muhammet Fatih Demir, Fatih Akcay, Melik Seyrek, Nuri Haksever, David Piskin, Rolando Cimaz, Michael Rieder, Erkan Demirkaya

Paediatrics Publications

While the pathophysiology of chronic disorders varies there are three basic mechanisms - inflammation, oxidative stress and endothelial dysfunction - that are common in many chronic diseases. However, the failure of these mechanisms to work synchronously can lead to morbidity complicating the course of many chronic diseases. We analyzed data of 178 patients from cohorts with selected chronic diseases in this quasi-experimental study. Endothelial dysfunction was determined by flow-mediated dilatation (FMD) and asymmetric dimethylarginine (ADMA) levels. Serum ADMA, high sensitive C-reactive protein (hs-CRP), serum PTX3, malondialdehyde (MDA), Cu/Zn-superoxide dismutase (Cu/Zn-SOD), glutathione peroxidase (GSH-Px) levels and FMD were studied in baseline …

Initial Acute Otitis Media Antibiotic Treatment, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Children’S Mercy Covid-19 Venous Thromboembolism (Vte) Prophylactic Guidelines, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Prevalence And Clinical Features Of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified By Whole-Exome Sequencing In 1000 Children At A Single Center, Eileen Crowley, Neil Warner, Jie Pan, Sam Khalouei, Abdul Elkadri, Karoline Fiedler, Justin Foong, Andrei L Turinsky, Dana Bronte-Tinkew, Shiqi Zhang

Paediatrics Publications

BACKGROUND & AIMS: A proportion of infants and young children with inflammatory bowel diseases (IBDs) have subtypes associated with a single gene variant (monogenic IBD). We aimed to determine the prevalence of monogenic disease in a cohort of pediatric patients with IBD.

METHODS: We performed whole-exome sequencing analyses of blood samples from an unselected cohort of 1005 children with IBD, aged 0-18 years (median age at diagnosis, 11.96 years) at a single center in Canada and their family members (2305 samples total). Variants believed to cause IBD were validated using Sanger sequencing. Biopsies from patients were analyzed by immunofluorescence and …

Randomized Phase 2 Trial And Open-Label Extension Of Domagrozumab In Duchenne Muscular Dystrophy., Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Jean K. Mah, Craig Campbell, Michela Guglieri, Francesco Muntoni, Yasuhiro Takeshima, Craig M. Mcdonald, Anna Kostera-Pruszczyk, Peter Karachunski, Russell J. Butterfield, Eugenio Mercuri, Chiara Fiorillo, Enrico S. Bertini, Cuixia Tian, Jeffery Statland, Alesia B. Sadosky, Vivek S. Purohit, Sarah P. Sherlock, Jeffrey P. Palmer, Michael Binks, Lawrence Charnas, Shannon Marraffino, Brenda L. Wong

Paediatrics Publications

We report results from a phase 2, randomized, double-blind, 2-period trial (48 weeks each) of domagrozumab and its open-label extension in patients with Duchenne muscular dystrophy (DMD). Of 120 ambulatory boys (aged 6 to <16 >years) with DMD, 80 were treated with multiple ascending doses (5, 20, and 40 mg/kg) of domagrozumab and 40 treated with placebo. The primary endpoints were safety and mean change in 4-stair climb (4SC) time at week 49. Secondary endpoints included other functional tests, pharmacokinetics, and pharmacodynamics. Mean (SD) age was 8.4 (1.7) and 9.3 (2.3) years in domagrozumab- and placebo-treated patients, respectively. Difference in mean …

Authorizing Medical Cannabis For Children., Michael Rieder

Paediatrics Publications

No abstract provided.

Determining A Bayesian Predictive Power Stopping Rule For Futility In A Non-Inferiority Trial With Binary Outcomes., Anna Heath, Martin Offringa, Petros Pechlivanoglou, Juan David Rios, Terry P Klassen, Naveen Poonai, Eleanor Pullenayegum

Paediatrics Publications

Background/Aims: Non-inferiority trials investigate whether a novel intervention, which typically has other benefits (i.e., cheaper or safer), has similar clinical effectiveness to currently available treatments. In situations where interim evidence in a non-inferiority trial suggests that the novel treatment is truly inferior, ethical concerns with continuing randomisation to the "inferior" intervention are raised. Thus, if interim data indicate that concluding non-inferiority at the end of the trial is unlikely, stopping for futility should be considered. To date, limited examples are available to guide the development of stopping rules for non-inferiority trials.

Methods: We used a Bayesian predictive power approach to …

A Systematic Review For The Management Of The Genetically Defined Il-1-Mediated Autoinflammatory Diseases, Caps, Traps, Mkd And Dira, R. Berard, M. Romano, Zs Arici, D. Piskin, O. Jones, K. Durrant, R. Goldbach-Mansky, M. Gattorno, E. Demirkaya

Paediatrics Publications

No abstract provided.

The Impact Of Covid-19 On Canadian Urology Residents, Ernest Pang Chan, Leandra Stringer, Peter Z.T. Wang, Sumit Dave, Jeffrey D. Campbell

Paediatrics Publications

No abstract provided.

Feminizing Genitoplasty In A Young Girl With Glanzmann's Thrombasthenia-Management Of Haemostasis, Kashaf Khalid Turk, Zafar Nazir

Section of Paediatric Surgery

We report peri- and post-operative management of haemostasis in a 11-year old girl with Glanzmann Thrombasthenia (GT) who had feminizing genitoplasty for genital ambiguity due to Congenital Adrenal Hyperplasia (CAH-21 Hydroxylase deficiency). A blend of Glanzmann Thrombasthenia (GT) and DSD 46XX due to CAH is not reported in literature. Surgery particularly genitourinary reconstruction in patients with GT is challenging due to risk of intra and post-operative bleeding. Haemostasis can successfully be achieved with platelet transfusions, antifibrinolytic (Tranexamic acid) and judicious use of recombinant factor VIIa (rFVIIa) even in a resource limited setting.

Bilateral Pulmonary Metastases Of Papillary Thyroid Carcinoma In A 12-Year-Old Child-A Case Report And Review Of The Literature., V Thirumala, C O'Souji, S Thirumala

Articles, Abstracts, and Reports

Metastatic disease of the lung has been extensively documented in the adult patient population. The most common primary sources for pulmonary metastases include breast, colon gastrointestinal including pancreas and urinary bladder. Malignant lung tumors in pediatric population is extremely rare. However, like in adult patient population, metastases are more common than primary tumors in lung in pediatric patients. Metastatic spread of tumors can occur both by way of hematogenous spread and lymphatic pathways. We present a rare case of biopsy proven metastatic thyroid carcinoma in the lung in a 12-year-old male child masquerading as bilateral miliary nodules on imaging studies. …

Prevalence Of Vitamin D Deficiency In Exclusively Breastfed Infants At A Tertiary Healthcare Facility In Nairobi, Kenya, Nusrat Abubakar, Rose Kamenwa, Mary Limbe, Mitchel Otieno Okumu, William Macharia

Paediatrics and Child Health, East Africa

Objective: To determine the prevalence of vitamin D deficiency (VDD) in exclusively breastfed infants at the Aga Khan University Hospital Nairobi, Kenya (AKUHN). The relationships between 25-hydroxyvitamin D; 25OHD, parathyroid hormone (PTH), maternal vitamin D supplementation, and sunlight exposure were also determined.

Subjects and methods: Blood from 98 infants was assayed for 25OHD, calcium, phosphate, and PTH. Socio-demographic and clinical characteristics were analyzed using descriptive statistics and inferential analysis (p < 0.05).

Results: The prevalence of VDD (25OHD <12 ng/mL), vitamin D insufficiency (VDI, 25OHD 12-20 ng/mL) and vitamin D sufficiency (VDS, 25OHD >20 ng/mL) was 11.2% (95% CI 8.0%-14.4%), 12.2% (95% CI 8.9%-15.5%), and 76.5% (95% CI 72.3%-80.8%) respectively. There was no difference in the …

The Perception Of Prosody In English-Speaking Children With Cochlear Implants: A Systematic Review, Grace R. Smith

Dissertations, Theses, and Capstone Projects

Objective: The goal of this paper was to systematically review literature in order to investigate the perception of prosody in English-speaking children with cochlear implants.

Methods: A comprehensive search utilizing various peer-reviewed databases accessible through the City University of New York (CUNY) Graduate Center Library was conducted to identify relevant studies. Inclusion criteria included studies that examined prosody perception in pre-and post-lingually deafened children with cochlear implants. Children who utilized unilateral, bilateral, and bimodal configurations of cochlear implants were therefore included in this search.

Results: 9 studies met the inclusion criteria for this systematic review. The findings …

Brain Abscess And The Nonfenestrated Fontan Circulation, Bethany Runkel, William B. Drake, Geetha Raghuveer

Manuscripts, Articles, Book Chapters and Other Papers

Brain abscess is a rare but life-threatening condition. Intracardiac or extracardiac right-to-left shunting in patients with unrepaired cyanotic congenital heart disease, pulmonary arteriovenous malformations, or venovenous collaterals allows microbes unfiltered access to the brain. Brain abscess must be considered when cyanotic patients present with headache.

Postnatal Loss Of The Insulin Receptor In Osteoprogenitor Cells Does Not Impart A Metabolic Phenotype, John L. Fowlkes, R. Clay Bunn, Evangelia Kalaitzoglou, Phil Ray, Iuliana Popescu, Kathryn M. Thrailkill

Barnstable Brown Diabetes Center Faculty Publications

The relationship between osteoblast-specific insulin signaling, osteocalcin activation and gluco-metabolic homeostasis has proven to be complex and potentially inconsistent across animal-model systems and in humans. Moreover, the impact of postnatally acquired, osteoblast-specific insulin deficiency on the pancreas-to-skeleton-to-pancreas circuit has not been studied. To explore this relationship, we created a model of postnatal elimination of insulin signaling in osteoprogenitors. Osteoprogenitor-selective ablation of the insulin receptor was induced after ~10 weeks of age in IR^l°^x/lox/Osx-Cre^+/− genotypic male and female mice (designated postnatal-OIRKO). At ~21 weeks of age, mice were then phenotypically and metabolically characterized. Postnatal-OIRKO mice demonstrated …

Multicenter Clinical Evaluation Of The Revogene Strep A Molecular Assay For Detection Of Streptococcus Pyogenes From Throat Swab Specimens, Dithi Banerjee, Jeff Michael, B. Schmitt, H. Salimnia, N. Mhaissen, D. M. Goldfarb, P. Lachance, M. L. Faron, T. Aufderheide, N. Ledeboer, A. Weissfeld, Rangaraj Selvarangan

Manuscripts, Articles, Book Chapters and Other Papers

Copyright © 2020 Banerjee et al. This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International license Group A streptococcus (GAS) species cause bacterial pharyngitis in both adults and children. Early and accurate diagnosis of GAS is important for appropriate antibiotic therapy to prevent GAS sequalae. The Revogene Strep A molecular assay (Meridian Bioscience Canada Inc, Quebec City, QC, Canada) is an automated real-time PCR assay for GAS detection from throat swab specimens within approximately 70 min. This multicenter prospective study evaluated the performance of the Revogene Strep A molecular assay compared to that …

Intergrowth-21st Project International Inter-Nda Standards For Child Development At 2 Years Of Age: An International Prospective Population-Based Study, Michelle Fernandes, José Villar, Alan Stein, Eleonora Staines Urias, Cutberto Garza, Cesar G. Victora, Fernando C. Barros, Enrico Bertino, Maria Carvalho, Amina Abubakar, Roseline Ochieng

Obstetrics and Gynaecology, East Africa

Objectives To describe the construction of the international INTERGROWTH-21st Neurodevelopment Assessment (INTER-NDA) standards for child development at 2 years by reporting the cognitive, language, motor and behaviour outcomes in optimally healthy and nourished children in the INTERGROWTH-21st Project.

Design Population-based cohort study, the INTERGROWTH-21st Project.

Setting Brazil, India, Italy, Kenya and the UK.

Participants 1181 children prospectively recruited from early fetal life according to the prescriptive WHO approach, and confirmed to be at low risk of adverse perinatal and postnatal outcomes.

Primary measures Scaled INTER-NDA domain scores for cognition, language, fine and gross motor skills and behaviour; vision outcomes measured …

Sleep Patterns And Problems Among Children With 22q11 Deletion Syndrome., Jill M. Arganbright, Meghan Tracy, Susan Starling Hughes, David G. Ingram Md

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: To delineate sleep habits and problems in children with 22q11.2 deletion syndrome (22q11DS).

METHODS: Thirty children, age 1-15 (mean 6.8) years, participated in the study, which was an internet-based anonymous survey of parents of children with 22q11DS administered via the 22q11.2 Foundation. The main outcome was the Childhood Sleep Habits Questionnaire (CSHQ).

RESULTS: Scores on the CSHQ demonstrated clinically significant sleep problems in 29 of the 30 children. When compared with previously reported normative values for typically developing children of the same age, children with 22q11DS had significantly greater sleep problems. Only 30% of children had previously undergone sleep …

Mild Traumatic Brain Injury: Parental Education For An Active Child, Elizabeth W. Roth

Theses and Graduate Projects

Mild traumatic brain injuries in the pediatric population are prevalent and pervasive. Identification and recognition of concussion symptoms is complicated by variable symptom manifestation and duration. The purpose of this evidence-based DNP project was to implement a concussion education intervention to increase parental recognition and knowledge regarding pediatric concussions. Individualized, in-person education, evidence-based injury prevention, symptom recognition, and collaboration encouraged lifestyle modification to reduce childhood injuries. Evaluation of parental concerns concluded a desire for future health promotion education resulting in bimonthly meetings to further improve personal, familial, and professional health.

Multi-Dose Oral Ondansetron For Pediatric Gastroenteritis: Study Protocol For The Multi-Dose Oral Ondansetron For Pediatric Acute Gastroenteritis (Dose-Age) Pragmatic Randomized Controlled Trial, Stephen B Freedman, Sarah Williamson-Urquhart, Anna Heath, Petros Pechlivanoglou, Gareth Hopkin, Serge Gouin, Amy C Plint, Andrew Dixon, Darcy Beer, Gary Joubert, Christopher Mccabe, Yaron Finkelstein, Terry P Klassen

Paediatrics Publications

BACKGROUND: There are limited treatment options that clinicians can provide to children presenting to emergency departments with vomiting secondary to acute gastroenteritis. Based on evidence of effectiveness and safety, clinicians now routinely administer ondansetron in the emergency department to promote oral rehydration therapy success. However, clinicians are also increasingly providing multiple doses of ondansetron for home use, creating unquantified cost and health system resource use implications without any evidence to support this expanding practice.

METHODS/DESIGN: DOSE-AGE is a randomized, placebo-controlled, double-blinded, six-center, pragmatic clinical trial being conducted in six Canadian pediatric emergency departments (EDs). In September 2019 the study began …