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Articles 5101 - 5130 of 9034

Full-Text Articles in Medicine and Health Sciences

Callicore, Cole Miller, Galen Ogg, Jasmine Phun, Yajnesh Vedanaparti, Morgan Hutchinson, Md Feb 2021

Callicore, Cole Miller, Galen Ogg, Jasmine Phun, Yajnesh Vedanaparti, Morgan Hutchinson, Md

Phase 1

Transporting children in SPICA casts in a safe, comfortable, and convenient manner so that the parents can feel more at ease.


Constipation, Children's Mercy Kansas City Feb 2021

Constipation, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.


Defining The Genotypic And Phenotypic Spectrum Of X-Linked Msl3-Related Disorder, Theresa Brunet, Kirsty Mcwalter, Katharina Mayerhanser, Grace M Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, Amber Begtrup, Caleb P Bupp, Bert L Callewaert, Anna Cereda, Margot A Cousin, Juan C Del Rey Jimenez, Laurie Demmer, Nikita R Dsouza, Nicole Fleischer, Ralitza H Gavrilova, Sumedha Ghate, Elisabeth Graf, Andrew Green, Sarah R Green, Maria Iascone, Ameni Kdissa, Dirk Klee, Eric W Klee, Emily Lancaster, Kristin Lindstrom, Johannes A Mayr, Meriel Mcentagart, Naomi J L Meeks, Dana Mittag, Harrison Moore, Anne K Olsen, Damara Ortiz, Gretchen Parsons, Loren D M Pena, Richard E Person, Sumit Punj, Gonzalo Alonso Ramos-Rivera, Maria J Guillen Sacoto, G Bradley Schaefer, Rhonda E Schnur, Tiana M Scott, Daryl A Scott, Carolyn R Serbinski, Vandana Shashi, Victoria Mok Siu, Barbro Fossøy Stadheim, Jennifer A Sullivan, Jana Švantnerová, Lea Velsher, David S Wargowski, Ingrid M Wentzensen, Dagmar Wieczorek, Juliane Winkelmann, Patrick Yap, Michael Zech, Michael T Zimmermann, Thomas Meitinger, Felix Distelmaier, Matias Wagner Feb 2021

Defining The Genotypic And Phenotypic Spectrum Of X-Linked Msl3-Related Disorder, Theresa Brunet, Kirsty Mcwalter, Katharina Mayerhanser, Grace M Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, Amber Begtrup, Caleb P Bupp, Bert L Callewaert, Anna Cereda, Margot A Cousin, Juan C Del Rey Jimenez, Laurie Demmer, Nikita R Dsouza, Nicole Fleischer, Ralitza H Gavrilova, Sumedha Ghate, Elisabeth Graf, Andrew Green, Sarah R Green, Maria Iascone, Ameni Kdissa, Dirk Klee, Eric W Klee, Emily Lancaster, Kristin Lindstrom, Johannes A Mayr, Meriel Mcentagart, Naomi J L Meeks, Dana Mittag, Harrison Moore, Anne K Olsen, Damara Ortiz, Gretchen Parsons, Loren D M Pena, Richard E Person, Sumit Punj, Gonzalo Alonso Ramos-Rivera, Maria J Guillen Sacoto, G Bradley Schaefer, Rhonda E Schnur, Tiana M Scott, Daryl A Scott, Carolyn R Serbinski, Vandana Shashi, Victoria Mok Siu, Barbro Fossøy Stadheim, Jennifer A Sullivan, Jana Švantnerová, Lea Velsher, David S Wargowski, Ingrid M Wentzensen, Dagmar Wieczorek, Juliane Winkelmann, Patrick Yap, Michael Zech, Michael T Zimmermann, Thomas Meitinger, Felix Distelmaier, Matias Wagner

Paediatrics Publications

PURPOSE: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome).

METHODS: Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers.

RESULTS: We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exon deletion), most proven to be de novo, and clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of …


Intramedullary Spinal Cord Lesions In Children, Ummey Hani, Sameer Saleem Tebha, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim Feb 2021

Intramedullary Spinal Cord Lesions In Children, Ummey Hani, Sameer Saleem Tebha, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim

Section of Neurosurgery

Paediatric intramedullary spinal cord lesions are uncommon pathologies, prone to result in dismal prognosis if not managed promptly and aggressively. While children usually present in good functional grades compared to adults, early recognition and treatment is important to improve outcomes. In this review, we present tumour demographics, patient factors, and treatment modalities of intramedullary spinal cord lesions in paediatric patients.


Magnetic Resonance Imaging Findings In Childhood Epilepsy At A Tertiary Hospital In Kenya, Pauline Samia, Nicholas Odero, Maureen Njoroge, Shem Ochieng, Jacqueline Mavuti, Sheila Waa, Samson Gwer Feb 2021

Magnetic Resonance Imaging Findings In Childhood Epilepsy At A Tertiary Hospital In Kenya, Pauline Samia, Nicholas Odero, Maureen Njoroge, Shem Ochieng, Jacqueline Mavuti, Sheila Waa, Samson Gwer

Paediatrics and Child Health, East Africa

Background: Neuroimaging is important for determining etiology and guiding care in early childhood epilepsy. However, access to appropriate imaging in sub-Saharan Africa is modest, and as a consequence, etiological descriptions of childhood epilepsy in the region have been limited. We sought to describe MRI findings in children with epilepsy presenting to a tertiary hospital in Nairobi, Kenya, over a 6-year period of routine care.

Materials and Methods: We undertook a retrospective review of MRI findings of children aged between 0 and 18 years with a diagnosis of epilepsy presenting to the pediatric neurology department of Aga Khan University Hospital in …


Acute Depression And Anxiety Symptoms Following Concussion In An Adolescent Outpatient Population, Ari M. Fish, Julia Vanni, Kristy Arbogast, Phd, Catherine C. Mcdonald, Phd, Rn, Christina Master, Md, Caqsm Feb 2021

Acute Depression And Anxiety Symptoms Following Concussion In An Adolescent Outpatient Population, Ari M. Fish, Julia Vanni, Kristy Arbogast, Phd, Catherine C. Mcdonald, Phd, Rn, Christina Master, Md, Caqsm

Phase 1

Introduction: Research has shown that concussed youth are at increased risk of developing psychiatric symptoms as compared to non-concussed youth. Few studies, however, have detailed the presence and severity of acute depression and anxiety symptoms following a concussion in adolescents, specifically. Thus, the current study aims to describe depression and anxiety symptoms in concussed and non-concussed adolescents using validated measures of depression and anxiety.

Methods: The current study includes 284 adolescents (114 cases, 170 controls), 13-18 years of age. Cases included concussed patients at the Children’s Hospital of Philadelphia, and controls were recruited from a local, Philadelphia high school. …


“Ecmo In A Bag”: Successful Adaptation And Implementation Of A Novel Conference Idea, Johanna I. Orrick, Debra E. Newton, Kari L. Davidson, Jenna Miller, Alyssa Stoner Feb 2021

“Ecmo In A Bag”: Successful Adaptation And Implementation Of A Novel Conference Idea, Johanna I. Orrick, Debra E. Newton, Kari L. Davidson, Jenna Miller, Alyssa Stoner

Posters

INTRODUCTION: Extracorporeal Membrane Oxygenation (ECMO) is an ever-evolving technical landscape that requires an advanced level of education. At our institution, a 367-bed pediatric teaching and research facility, learners include registered nurses, registered respiratory therapists, advanced practice registered nurses, resident physicians, pediatric and neonatal intensive care physicians. A certification class followed by an advanced course covers ECMO diagnoses, complications, equipment, and management prior to providing care for ECMO patients in our institution. Educational strategies include high and low fidelity simulations, didactic learning, and clinical hours at the bedside. A desire to increase the experiential learning opportunities was identified as an ECMO …


Identifying The Roadblocks To Successful Pediatric Imaging Without Sedation Or Anesthesia, Iman Soliman, Ammie M. White, Md, J. Christopher Edgar, Phd, Laura Cadge, Ccls, Margaret Hamel-Daymon, Crnp, Sandra Saade-Lemus, Md, Rochelle Bagatell, Md, Elizabeth T. Drum, Md, Lisa States, Md Feb 2021

Identifying The Roadblocks To Successful Pediatric Imaging Without Sedation Or Anesthesia, Iman Soliman, Ammie M. White, Md, J. Christopher Edgar, Phd, Laura Cadge, Ccls, Margaret Hamel-Daymon, Crnp, Sandra Saade-Lemus, Md, Rochelle Bagatell, Md, Elizabeth T. Drum, Md, Lisa States, Md

Phase 1

Background: Modern imaging modalities allow for assessment of a wide array of medical conditions. Because it is difficult for young children to remain still during lengthy imaging studies, there is a need for sedation and general anesthesia (GA). A growing literature, however, suggests that there may be deleterious neurocognitive effects of sedation/GA in young children. As such, it is in our patients’ best interest to critically evaluate the use of sedation/GA.

Objective: To identify the roadblocks to obtaining clinical pediatric magnetic resonance imaging (MRI) exams without sedation/GA.

Materials and Methods: Participants included 63 parents/guardians of 5- to 9-year-old patients who …


Adverse Events Following Screening Eye Examinations For Retinopathy Of Prematurity In Premature Infants, Aditi Kale, Pedro Urday, Zubair H. Aghai Feb 2021

Adverse Events Following Screening Eye Examinations For Retinopathy Of Prematurity In Premature Infants, Aditi Kale, Pedro Urday, Zubair H. Aghai

Phase 1

Introduction: The retinopathy of prematurity (ROP) examination is recommended for high-risk preterm infants to prevent its complications but may be associated with adverse events. The goal of this study is to determine whether the ROP examination increases the incidence of adverse events in premature infants.

Design/Methods: This was a retrospective study on all preterm infants (32 weeks gestation) born between 03/2017 and 12/2019 who survived until the first eye examination. The number of episodes of apnea (A), bradycardia (B), desaturation (D), number of infants on mechanical ventilation, and number of infants requiring sepsis evaluation were compared before and …


Fructan-Sensitive Children With Irritable Bowel Syndrome Have Distinct Gut Microbiome Signatures, Bruno P Chumpitazi, Kristi L Hoffman, Daniel P Smith, Ann R Mcmeans, Salma Musaad, James Versalovic, Joseph F Petrosino, Robert J Shulman Feb 2021

Fructan-Sensitive Children With Irritable Bowel Syndrome Have Distinct Gut Microbiome Signatures, Bruno P Chumpitazi, Kristi L Hoffman, Daniel P Smith, Ann R Mcmeans, Salma Musaad, James Versalovic, Joseph F Petrosino, Robert J Shulman

Children’s Nutrition Research Center Staff Publications

Background: Dietary fructans may worsen gastrointestinal symptoms in children with irritable bowel syndrome (IBS).

Aim: To determine whether gut microbiome composition and function are associated with childhood IBS fructan-induced symptoms.

Methods: Faecal samples were collected from 38 children aged 7-17 years with paediatric Rome III IBS, who previously completied a double-blind, randomised, placebo-controlled crossover (fructan vs maltodextrin) trial. Fructan sensitivity was defined as an increase of ≥30% in abdominal pain frequency during the fructan diet. Gut microbial composition was determined via 16Sv4 rDNA sequencing. LEfSe evaluated taxonomic composition differences. Tax4Fun2 predicted microbial fructan metabolic pathways.

Results: At baseline, 17 fructan-sensitive …


Overview Of Breath Testing In Clinical Practice In North America, Buford L Nichols, Robert D Baker, Susan S Baker Feb 2021

Overview Of Breath Testing In Clinical Practice In North America, Buford L Nichols, Robert D Baker, Susan S Baker

Children’s Nutrition Research Center Staff Publications

Human breath is an easily, noninvasively obtained substance. It offers insight into metabolism and is used to diagnose disaccharide malabsorption, infection, small bowel bacterial over growth, and transit times. Herein, we discuss the readily available clinical breath tests, how they function, how they are administered and interpreted and some pitfalls in their use.


Lung Ultrasound Patterns In Paediatric Pneumonia In Mozambique And Pakistan, Amy Sarah Ginsburg, Pio Vitorino, Zunera Qasim, Jennifer L. Lenahan, Jun Hwang Jun Hwang, Alessandro Lamorte, Marta Valente, Benazir Baloch, Muhammad Imran Nisar, Fyezah Jehan Feb 2021

Lung Ultrasound Patterns In Paediatric Pneumonia In Mozambique And Pakistan, Amy Sarah Ginsburg, Pio Vitorino, Zunera Qasim, Jennifer L. Lenahan, Jun Hwang Jun Hwang, Alessandro Lamorte, Marta Valente, Benazir Baloch, Muhammad Imran Nisar, Fyezah Jehan

Department of Paediatrics and Child Health

Objective: Improved pneumonia diagnostics are needed, particularly in resource-constrained settings. Lung ultrasound (LUS) is a promising point-of-care imaging technology for diagnosing pneumonia. The objective was to explore LUS patterns associated with paediatric pneumonia.
Methods: We conducted a prospective, observational study among children aged 2 to 23 months with World Health Organization Integrated Management of Childhood Illness chest-indrawing pneumonia and among children without fast breathing, chest indrawing or fever (no pneumonia cohort) at two district hospitals in Mozambique and Pakistan. We assessed LUS and chest radiograph (CXR) examinations, and viral and bacterial nasopharyngeal carriage, and performed a secondary analysis of LUS …


Population Pharmacokinetics Of Olanzapine In Children, Anil R. Maharaj, Huali Wu, Kanecia O. Zimmerman, Julie Autmizguine, Rohit Kalra, Amira Al‐Uzri, Catherine M.T. Sherwin, Stuart L. Goldstein, Kevin Watt, Jinson Erinjeri, Elizabeth H. Payne, Michael Cohen‐Wolkowiez, Christoph P. Hornik Jan 2021

Population Pharmacokinetics Of Olanzapine In Children, Anil R. Maharaj, Huali Wu, Kanecia O. Zimmerman, Julie Autmizguine, Rohit Kalra, Amira Al‐Uzri, Catherine M.T. Sherwin, Stuart L. Goldstein, Kevin Watt, Jinson Erinjeri, Elizabeth H. Payne, Michael Cohen‐Wolkowiez, Christoph P. Hornik

Pediatrics Faculty Publications

Aims The aim of this study was to evaluate the population pharmacokinetics (PopPK) of olanzapine in children and devise a model-informed paediatric dosing scheme. Methods The PopPK of olanzapine was characterized using opportunistically collected plasma samples from children receiving olanzapine per standard of care for any indication. A nonlinear mixed effect modelling approach was employed for model development using the software NONMEM (v7.4). Simulations from the developed PopPK model were used to devise a paediatric dosing scheme that targeted comparable plasma exposures to adolescents and adults. Results Forty-five participants contributed 83 plasma samples towards the analysis. The median (range) postnatal …


Prevalence Of Functional Limitation In Covid-19 Recovered Patients Using The Post Covid-19 Functional Status Scale, Pankaj Pant, Aishana Joshi, Babin Basnet, Bibek Man Shrestha, Navindra Raj Bista, Niraj Bam, Santa Kumar Das Jan 2021

Prevalence Of Functional Limitation In Covid-19 Recovered Patients Using The Post Covid-19 Functional Status Scale, Pankaj Pant, Aishana Joshi, Babin Basnet, Bibek Man Shrestha, Navindra Raj Bista, Niraj Bam, Santa Kumar Das

Faculty, Staff and Student Publications

INTRODUCTION: COVID-19 is an emerging global health pandemic causing tremendous morbidity and mortality worldwide. Chronic symptoms progressing to poor functional status have been reported in a substantial proportion of COVID-19 patients worldwide. This study aimed to determine the prevalence of functional limitation in COVID-19 recovered patients using the post-COVID-19 functional status scale.

METHODS: A descriptive cross-sectional study was conducted at Tribhuvan University Teaching Hospital. COVID-19 recovered patients with reverse transcription-polymerase chain reaction negative status were included and assessed using the post-COVID-19 functional status scale. Data entry and analysis was done in Statistical Package for the Social Sciences version 20.0. Descriptive …


Accuracy Of Procalcitonin Levels For Diagnosis Of Culture-Positive Sepsis In Critically Ill Trauma Patients: A Retrospective Analysis, Aisha Bakhtiar, Syed Jawad Haider Kazmi, Muhammad Sohaib Asghar, Muhammad Nadeem Khurshaidi, Salman Mazhar, Noman A. Khan, Nisar Ahmed, Farah Yasmin, Rabail Yaseen, Maira Hassan Jan 2021

Accuracy Of Procalcitonin Levels For Diagnosis Of Culture-Positive Sepsis In Critically Ill Trauma Patients: A Retrospective Analysis, Aisha Bakhtiar, Syed Jawad Haider Kazmi, Muhammad Sohaib Asghar, Muhammad Nadeem Khurshaidi, Salman Mazhar, Noman A. Khan, Nisar Ahmed, Farah Yasmin, Rabail Yaseen, Maira Hassan

Section of Cardiothoracic Surgery

Background: Abdominal trauma and intra-abdominal sepsis are associated with significant morbidity and mortality. Microcirculation in the gut is disrupted in hemorrhagic and septic shock leading to tissue hypoxia, and the damaged gut acts as a reservoir rich in inflammatory mediators and provides a continual source of inflammation to the systemic circulation leading to sepsis. Sepsis is defined as the presence (probable or documented) of infection together with a systemic inflammatory response to infection. Blood culture is commonly considered to be the preferred approach for diagnosing sepsis, although it is time-consuming, that is, reports are normally available only after 12-48 hours. …


Meropenem-Induced Pancytopenia In A Preterm Neonate: A Case Report, Kashif Hussain, Muhammad Sohail Salat, Naureen Mohammad, Ambreen Mughal, Sidra Idrees, Javaid Iqbal, Gul Ambreen Jan 2021

Meropenem-Induced Pancytopenia In A Preterm Neonate: A Case Report, Kashif Hussain, Muhammad Sohail Salat, Naureen Mohammad, Ambreen Mughal, Sidra Idrees, Javaid Iqbal, Gul Ambreen

Department of Biological & Biomedical Sciences

Background: A post-marketing surveillance study has reported an association between meropenem use and the incidence of hematologic abnormalities, including leukopenia, thrombocytopenia, hemolysis, and neutropenia, but the precise incidence in neonates is unknown. Here, we report meropenem-induced pancytopenia in a preterm neonate.
Case presentation: A preterm newborn Pakistani received intravenous meropenem 40 mg/kg every 8 hours to treat Klebsiella pneumoniae in blood cultures and suspected meningitis. The baby developed severe thrombocytopenia, with a platelet count of 22 × 103 cells/mm3, low hemoglobin level of 9.7 g/dl, and low absolute neutrophil count (ANC) of 816 cells/mm3 on days …


Mucosal Genomics Implicate Lymphocyte Activation And Lipid Metabolism In Refractory Environmental Enteric Dysfunction, Najeeha Talat Iqbal, Najeeb Rahman, Kamran Sadiq, Zubair Ahmad, Romana Idress, Junaid Iqbal, Sheraz Ahmed, Aneeta Hotwani, Fayyaz Umrani, Sana Syed, Syed Asad Ali Jan 2021

Mucosal Genomics Implicate Lymphocyte Activation And Lipid Metabolism In Refractory Environmental Enteric Dysfunction, Najeeha Talat Iqbal, Najeeb Rahman, Kamran Sadiq, Zubair Ahmad, Romana Idress, Junaid Iqbal, Sheraz Ahmed, Aneeta Hotwani, Fayyaz Umrani, Sana Syed, Syed Asad Ali

Department of Paediatrics and Child Health

Background & aims: Environmental enteric dysfunction (EED) limits the Sustainable Development Goals of improved childhood growth and survival. We applied mucosal genomics to advance our understanding of EED.
Methods: The Study of Environmental Enteropathy and Malnutrition (SEEM) followed 416 children from birth to 24 months in a rural district in Pakistan. Biomarkers were measured at 9 months and tested for association with growth at 24 months. The duodenal methylome and transcriptome was determined in 52 undernourished SEEM participants and 42 North American controls and celiac disease patients.
Results: After accounting for growth at study entry, circulating IGF-1 and ferritin predicted …


Characteristics Of Salmonella Recovered From Stools Of Children Enrolled In The Global Enteric Multicenter Study, Irene N. Kasumba, Caisey V. Pulford, Blanca M. Perez-Sepulveda, Sunil Sen, Nurulla Sayed, Jasnehta Permala-Booth, Sofie Livio Sofie Livio, Darren Heavens Darren Heavens, Ross Low Ross Low, Shahida Qureshi, Anita K. M. Zaidi Jan 2021

Characteristics Of Salmonella Recovered From Stools Of Children Enrolled In The Global Enteric Multicenter Study, Irene N. Kasumba, Caisey V. Pulford, Blanca M. Perez-Sepulveda, Sunil Sen, Nurulla Sayed, Jasnehta Permala-Booth, Sofie Livio Sofie Livio, Darren Heavens Darren Heavens, Ross Low Ross Low, Shahida Qureshi, Anita K. M. Zaidi

Department of Paediatrics and Child Health

Background: The Global Enteric Multicenter Study (GEMS) determined the etiologic agents of moderate-to-severe diarrhea (MSD) in children under 5 years old in Africa and Asia. Here, we describe the prevalence and antimicrobial susceptibility of non-typhoidal Salmonella (NTS) serovars in GEMS and examine the phylogenetics of Salmonella Typhimurium ST313 isolates.
Methods: Salmonella isolated from children with MSD or diarrhea-free controls were identified by classical clinical microbiology and serotyped using antisera and/or whole genome sequence data. We evaluated antimicrobial susceptibility using the Kirby-Bauer disk diffusion method. Salmonella Typhimurium sequence types were determined using multi-locus sequence typing and whole genome sequencing was performed …


Post-Partum Skin-To-Skin Care And Infant Safety: Results Of A State-Wide Hospital Survey, Eileen Tyrala, Md, Michael H. Goodstein, Md, Erich Batra, Md, Barbara Kelly, Md, Judy Bannon, Mba, Ted Bell, Ms Jan 2021

Post-Partum Skin-To-Skin Care And Infant Safety: Results Of A State-Wide Hospital Survey, Eileen Tyrala, Md, Michael H. Goodstein, Md, Erich Batra, Md, Barbara Kelly, Md, Judy Bannon, Mba, Ted Bell, Ms

Department of Medicine Faculty Papers

Objectives: Survey current experience with Skin to Skin care (SSC) in Pennsylvania Maternity Centers.

Study Design: The nursing director of each Maternity Center in PA (n = 95) was sent an on-line confidential survey querying SSC practices. Responses were compared by delivery size, location, and nature of affiliation. Statistics analyzed by chi-square and student t-test.

Results: Of these 64/95 MCs (67%) responded. All allowed SSC after vaginal deliveries, 55% after C-section, 73% mother’s room. Monitoring included delivery room nurse (94%) with support from other providers (61%), family members (37%), and electronic monitoring (5%). If SSC occurred in mother’s …


X-Linked Hypophosphatemic Osteomalacia With Phex Mutation Presenting Late In Pakistan, Nawazish Zehra, Lena Jafri, Salman Kirmani, Aysha Habib Khan Jan 2021

X-Linked Hypophosphatemic Osteomalacia With Phex Mutation Presenting Late In Pakistan, Nawazish Zehra, Lena Jafri, Salman Kirmani, Aysha Habib Khan

Department of Pathology and Laboratory Medicine

Abstract.introduction.and.importance: Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons.
Case presentation: We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth.
Clinical discussion: A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the …


A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson Jan 2021

A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson

Department of Paediatrics and Child Health

Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant occurred in eight children from four South Asian families with neurodevelopmental delay and epilepsy. We describe the clinical consequences of this variant and its effect on UFMylation.
Methods: Exome sequencing was used to detect potentially pathogenic variants and identify shared regions of homozygosity. Immunoblotting assessed protein expression and post-translational modifications in patient-derived fibroblasts. …


Influence Of A One-Time Web-Based Provider Intervention On Patient-Reported Outcomes After The Well-Child Visit: A Feasibility Study, Chad M. Coleman, Gwen L. Alexander, Charles Barone, Andrew S. Bossick, Zeinab Kassem, Mei Lu, Yueren Zhou, Andrea E. Cassidy-Bushrow Jan 2021

Influence Of A One-Time Web-Based Provider Intervention On Patient-Reported Outcomes After The Well-Child Visit: A Feasibility Study, Chad M. Coleman, Gwen L. Alexander, Charles Barone, Andrew S. Bossick, Zeinab Kassem, Mei Lu, Yueren Zhou, Andrea E. Cassidy-Bushrow

Journal of Patient-Centered Research and Reviews

Purpose: Patient-centered care promotes positive health outcomes in pediatrics. We created a provider-focused intervention and implemented it in a pragmatic clustered randomized controlled trial to improve health-related quality of life (HRQOL) among pediatric patients.

Methods: A one-time (1–1.5-hour) webinar focusing on patient-centered care and motivational interviewing, using obesity screening as an example, was developed. Pediatric providers were recruited and randomized to either intervention (webinar) or control (usual care) arms. All well-child visits to these providers for a period of up to 5 months following webinar completion (or study enrollment for controls) were identified, and these family/patients were invited to complete …


Assessment Of Stakeholder Engagement In A Down Syndrome Research Study, Jeanhee Chung, Ashwini Sarathy, Yichuan Grace Hsieh, Greg Estey, Amy Torres, Vasiliki Patsiogiannis, Karen Donelan, Brian G. Skotko Jan 2021

Assessment Of Stakeholder Engagement In A Down Syndrome Research Study, Jeanhee Chung, Ashwini Sarathy, Yichuan Grace Hsieh, Greg Estey, Amy Torres, Vasiliki Patsiogiannis, Karen Donelan, Brian G. Skotko

Journal of Patient-Centered Research and Reviews

There is growing recognition of the importance of engaging patients early in the design of research studies. For studies involving patients with intellectual and cognitive disabilities, researchers may consider engaging with family caregivers, health professionals, community advocates, and/or subject matter experts to provide a more multifaceted, surrogate perspective. Evaluating the engagement of these stakeholder groups in research is nascent, and tools are limited. Research studies involving these individuals provide the opportunity to test new methods of measurement of stakeholder engagement in research. We conducted a 3-year research study implementing and evaluating Down Syndrome Clinic to You, an online platform for …


The Silence Of Food Insecurity: Disconnections Between Primary Care And Community Organizations, Nicole K. Runkle, David A. Nelson Jan 2021

The Silence Of Food Insecurity: Disconnections Between Primary Care And Community Organizations, Nicole K. Runkle, David A. Nelson

Journal of Patient-Centered Research and Reviews

Purpose: Food insecurity is a prominent issue in the United States, and it is well established that food insecurity is linked to health and chronic illnesses. Studies show that screening for food insecurity is not yet part of standardized practice among all primary care physicians, nor are care providers comfortable with how to proceed with a patient who presents with this issue. Food insecurity is often handled by community-based organizations (CBOs) such as food pantries. Family medicine and pediatric clinics (FMPC) and CBOs hold unique relationships with their clients and can benefit from partnerships with each other to improve health …


Hajdu Cheney Syndrome Due To Notch2 Defect - First Case Report From Pakistan And Review Of Literature, Sibtain Ahmed, Aahan Arif, Saadia Abbas, Muhammad Osama Khan, Salman Kirmani, Aysha Habib Khan Jan 2021

Hajdu Cheney Syndrome Due To Notch2 Defect - First Case Report From Pakistan And Review Of Literature, Sibtain Ahmed, Aahan Arif, Saadia Abbas, Muhammad Osama Khan, Salman Kirmani, Aysha Habib Khan

Department of Pathology and Laboratory Medicine

Introduction and importance: Hajdu Cheney Syndrome (HCS) is a rare skeletal disease characterized by severe, progressive focal bone loss with osteoporosis, variable craniofacial, vertebral anomalies and distinctive facial features. It is inherited as an autosomal dominant disease although sporadic cases have been described in literature. Identifying these cases in clinical practice is important for proper diagnosis and management.
Case presentation: We report a case of a 36-year-old male patient presented at metabolic bone disease clinic at the Aga Khan University Hospital with history of multiple fragility fractures and juvenile osteoporosis since childhood. DNA sequence analysis of the NOTCH2 coding sequence …


Low-Dose Antithymocyte Globulin Has No Disadvantages To Standard Higher Dose In Pediatric Kidney Transplant Recipients: Report From The Pediatric Nephrology Research Consortium, Isa F. Ashoor, Robbie A. Beyl, Charu Gupta, Amrish Jain, Stefan G. Kiessling, Asha Moudgil, Hiren P. Patel, Joseph Sherbotie, Donald J. Weaver Jr., Rima S. Zahr, Vikas R. Dharnidharka Jan 2021

Low-Dose Antithymocyte Globulin Has No Disadvantages To Standard Higher Dose In Pediatric Kidney Transplant Recipients: Report From The Pediatric Nephrology Research Consortium, Isa F. Ashoor, Robbie A. Beyl, Charu Gupta, Amrish Jain, Stefan G. Kiessling, Asha Moudgil, Hiren P. Patel, Joseph Sherbotie, Donald J. Weaver Jr., Rima S. Zahr, Vikas R. Dharnidharka

Pediatrics Faculty Publications

Introduction
Rabbit antithymocyte globulin (rATG) dosing strategies for induction in pediatric kidney transplantation vary between centers. It is not known whether a lower rATG induction dose provides safe and effective immunosuppression compared with a “standard” higher dose.

Methods
We performed a retrospective multicenter study of all isolated first-time kidney transplant recipients < 21 years old who received rATG induction between 1 January 2010 and 31 December 2014 at 9 pediatric centers. An a priori cutoff of a 4.5-mg/kg cumulative rATG dose was used to identify low (≤ 4.5 mg/kg) and standard (> 4.5 mg/kg) exposure groups. Outcomes examined included 12 months posttransplant graft function (estimated glomerular filtration rate [eGFR]); the occurrence of acute rejection, donor-specific antibody (DSA), neutropenia, and viral infection …


Combined Use Of The Ketogenic Diet And Vagus Nerve Stimulation In Pediatric Drug-Resistant Epilepsy., Ayman Abdelmoity, Jean-Baptist Lepichon, Sherouk A. Abdelmoity, Ashley K. Sherman, Ara Hall, Ahmed Abdelmoity Jan 2021

Combined Use Of The Ketogenic Diet And Vagus Nerve Stimulation In Pediatric Drug-Resistant Epilepsy., Ayman Abdelmoity, Jean-Baptist Lepichon, Sherouk A. Abdelmoity, Ashley K. Sherman, Ara Hall, Ahmed Abdelmoity

Manuscripts, Articles, Book Chapters and Other Papers

Objective: Patients with drug-resistant epilepsy (DRE) pose considerable management challenges for patients, their families, and providers. Both the vagus nerve stimulator (VNS) and the ketogenic diet (KD) have been shown to be safe and effective in treating DRE. Nevertheless, information is lacking regarding treatment with combination of both modalities. This study reports the efficacy and tolerability of combining VNS and KD in a pediatric cohort with intractable epilepsy.

Methods: This is a retrospective review of 33 patients (0-17 years) with DRE treated with VNS and KD at a single pediatric level IV epilepsy center. We compared seizure reduction rates for …


A Multidisciplinary Approach To Triage Patients With Breast Disease During The Covid-19 Pandemic: Experience From A Tertiary Care Center In The Developing World, Abida K. Sattar, Hania Shahzad, Adnan Abdul Jabbar, Azmina Tajdin Valimohammad, Sadaf Khan, Yasmin Vellani, Romana Idrees, Nasir Ali, Imrana Masroor, Humera Saeed, Gulzar S. Lakhani, Nadia Ayoub, Atif Waqar, Muhammad Zia-Ul Islam, Salman Kirmani, Asad Latif, Ather Enam Jan 2021

A Multidisciplinary Approach To Triage Patients With Breast Disease During The Covid-19 Pandemic: Experience From A Tertiary Care Center In The Developing World, Abida K. Sattar, Hania Shahzad, Adnan Abdul Jabbar, Azmina Tajdin Valimohammad, Sadaf Khan, Yasmin Vellani, Romana Idrees, Nasir Ali, Imrana Masroor, Humera Saeed, Gulzar S. Lakhani, Nadia Ayoub, Atif Waqar, Muhammad Zia-Ul Islam, Salman Kirmani, Asad Latif, Ather Enam

Section of General Surgery

Background: The COVID-19 pandemic has created a need to prioritize care because of limitation of resources. Owing to the heterogeneity and high prevalence of breast cancers, the need to prioritize care in this vulnerable population is essential. While various medical societies have published recommendations to manage breast disease during the COVID-19 pandemic, most are focused on the Western world and do not necessarily address the challenges of a resource-limited setting.
Aim: In this article, we describe our institutional approach for prioritizing care for patients presenting with breast disease.
Methods and results: The breast disease management guidelines were developed and approved …


Utilization Of The Naranjo Scale To Evaluate Adverse Drug Reactions At A Free-Standing Children's Hospital., Madhavi Murali, Sarah Suppes, Keith Feldman, Jennifer Goldman Jan 2021

Utilization Of The Naranjo Scale To Evaluate Adverse Drug Reactions At A Free-Standing Children's Hospital., Madhavi Murali, Sarah Suppes, Keith Feldman, Jennifer Goldman

Manuscripts, Articles, Book Chapters and Other Papers

The relationship between the Naranjo scaling system and pediatric adverse drug reactions (ADR) is poorly understood. We performed a retrospective review of 1,676 pediatric ADRs documented at our hospital from 2014-2018. We evaluated patient demographics, implicated medication, ADR severity, calculated Naranjo score, associated symptoms, and location within the hospital in which the ADR was documented. ADR severity was poorly correlated with Naranjo interpretation. Out of the 10 Naranjo scale questions, 4 had a response of "unknown" greater than 85% of the time. Cardiovascular and oncological/immunologic agents were more likely to have a probable or definite Naranjo interpretation compared to antimicrobials. …


Functional Constipation Induces Bladder Overactivity Associated With Upregulations Of Htr2 And Trpv2 Pathways., Nao Iguchi, Alonso Carrasco, Alison X. Xie, Ricardo H. Pineda, Anna P. Malykhina, Duncan T. Wilcox Jan 2021

Functional Constipation Induces Bladder Overactivity Associated With Upregulations Of Htr2 And Trpv2 Pathways., Nao Iguchi, Alonso Carrasco, Alison X. Xie, Ricardo H. Pineda, Anna P. Malykhina, Duncan T. Wilcox

Manuscripts, Articles, Book Chapters and Other Papers

Bladder and bowel dysfunction (BBD) is a common yet underdiagnosed paediatric entity that describes lower urinary tract symptoms (LUTS) accompanied by abnormal bowel patterns manifested as constipation and/or encopresis. LUTS usually manifest as urgency, urinary frequency, incontinence, and urinary tract infections (UTI). Despite increasing recognition of BBD as a risk factor for long-term urinary tract problems including recurrent UTI, vesicoureteral reflux, and renal scarring, the mechanisms underlying BBD have been unclear, and treatment remains empirical. We investigated how constipation affects the lower urinary tract function using a juvenile murine model of functional constipation. Following four days of functional constipation, animals …