Medicine and Health Sciences Commons^™

A Pilot Intervention Combining Assessment And Feedback With Communication Training And Behavioral Nudges To Increase Hpv Vaccine Uptake., Andrea Bradley-Ewing, Brian R. Lee, Jason N. Doctor, Georgann Meredith, Kathy Goggin, Angela Myers

Manuscripts, Articles, Book Chapters and Other Papers

Human papillomavirus (HPV) causes >40,000 cancer diagnoses each year, yet vaccination rates remain low because widespread implementation of strategies to increase vaccinations has not occurred. Behavioral nudges have demonstrated efficacy in improving uptake of desired behaviors in health care settings but have not been tested for increasing HPV vaccinations. We assessed the impact of an intervention combining behavioral nudges with other proven strategies (i.e., assessment and feedback, provider communication training) on HPV vaccination rates and parental satisfaction in four Midwestern pediatric, outpatient practices. Practices were randomly assigned to receive either assessment and feedback or assessment and feedback combined with vaccine …

Aa And Dha Are Decreased In Paediatric Ad/Hd And Inattention Is Ameliorated By Increased Plasma Dha, John J. Miklavcic, Ellen Ivity, Ian M. Macdonald, Liana Urichuk, Vera C. Mazurak, Christina Rinaldi, Michael T. Clandinin

Food Science Faculty Articles and Research

The purpose of this study was to assess long chain polyunsaturated fatty acid (LCPUFA) status in relation to socio-behavioral outcomes in children with Attention Deficit/Hyperactivity Disorder (AD/HD). In a case-control design, plasma phospholipid fatty acid content was assessed in children aged 5–12 years with AD/HD and in typically functioning children. Dietary intakes of LCPUFAs arachidonic acid (AA; 20:4n6) and docosahexaenoic acid (DHA; 22:6n3) were quantified using a four-day food record, polymorphisms were determined in FADS1 and FADS2, and socio-behavioral outcomes were assessed using the Conners 3 Parent Rating Scales in a cross section of children with AD/HD. Compared to …

Gender Dysphoria In Adolescents With Ehlers-Danlos Syndrome., Jordan T. Jones, William R. Black, Christine Moser, Eric T. Rush, Lindsey Malloy-Walton

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: Ehlers-Danlos Syndrome represents a family of heritable connective tissue disorders that include joint hypermobility, tissue fragility, and skin hyperextensibility. Ehlers-Danlos Syndrome presents with clinical sequela across multiple body systems that require multidisciplinary care. Little is known about adolescents with Ehlers-Danlos Syndrome who are transgender and gender diverse. To date, there have been no reports of transgender and gender diverse youth in pediatric patients with Ehlers-Danlos Syndrome. The objective of this study was to characterize transgender and gender diverse adolescents with Ehlers-Danlos Syndrome seen in a pediatric multidisciplinary specialty clinic.

METHODS: A retrospective chart review was performed and it was …

Screening For Maternal Postpartum Depression In The Pediatric Primary Care Setting: An Educational Project, Mischelle M. Young, Dr. Robert Cornette, Dr. Lisa Padgett

Graduate Publications and Other Selected Works - Doctor of Nursing Practice (DNP)

Abstract

The birth of a baby can bring about an array of powerful emotions that range from joy and excitement to feelings of anxiety, worry, and depression. A majority of mothers experience postpartum baby blues which normally begins 2-3 days after delivery and can last for up to 2-3 weeks, but some mothers experience a more severe form known as postpartum depression (PPD). PPD can be mistaken for baby blues at first, but the signs and symptoms do not diminish and can continue to worsen. Postpartum depression signs and symptoms include withdrawing from friends and family, severe mood swings, excessive …

Assessing Cerebral Blood Flow, Oxygenation And Cytochrome C Oxidase Stability In Preterm Infants During The First 3 Days After Birth, Ajay Rajaram, Daniel Milej, Marianne Suwalski, Lilian Kebaya, Matthew Kewin, Lawrence Yip, Sandrine De Ribaupierre, Victor Han, Mamadou Diop, Soume Bhattacharya, Keith St. Lawrence

Paediatrics Publications

A major concern with preterm birth is the risk of neurodevelopmental disability. Poor cerebral circulation leading to periods of hypoxia is believed to play a significant role in the etiology of preterm brain injury, with the first three days of life considered the period when the brain is most vulnerable. This study focused on monitoring cerebral perfusion and metabolism during the first 72 h after birth in preterm infants weighing less than 1500 g. Brain monitoring was performed by combining hyperspectral near-infrared spectroscopy to assess oxygen saturation and the oxidation state of cytochrome c oxidase (oxCCO), with diffuse correlation spectroscopy …

Principles Of Dormancy Evident In High-Grade Serous Ovarian Cancer, Trevor G. Shepherd, Frederick A. Dick

Paediatrics Publications

In cancer, dormancy refers to a clinical state in which microscopic residual disease becomes non-proliferative and is largely refractory to chemotherapy. Dormancy was first described in breast cancer where disease can remain undetected for decades, ultimately leading to relapse and clinical presentation of the original malignancy. A long latency period can be explained by withdrawal from cell proliferation (cellular dormancy), or a balance between proliferation and cell death that retains low levels of residual disease (tumor mass dormancy). Research into cellular dormancy has revealed features that define this state. They include arrest of cell proliferation, altered cellular metabolism, and unique …

Neonate, Infant, And Child Mortality In North Africa And Middle East By Cause: An Analysis For The Global Burden Of Disease Study 2019, Sadaf G. Sepanlou, Hossein Rezaei Aliabadi, Reza Malekzadeh, Ali. A. Asadi-Pooya

Global Health Articles

Background: During the past three decades, neonate, infant, and child mortality declined in North Africa and Middle East. However, there is substantial heterogeneity in mortality rates across countries.

Methods: This study is part of the Global Burden of Diseases study (GBD) 2019. We report the number as well as mortality rates for neonates, infants, and children by cause across 21 countries in the region since 1990.

Results: Between 1990 and 2019, the neonate mortality rate in the region declined from 31.9 (29.8, 34.0) to 12.2 (11.1, 13.3) per 1000 live births. Respective figures for under 5 mortality rates (U5MRs) were …

Characteristics Of Antifungal Utilization For Hospitalized Children In The United States., Lourdes Eguiguren, Brian R. Lee, Jason G. Newland, Matthew P. Kronman, Adam L. Hersh, Jeffrey S. Gerber, Grace M. Lee, Hayden T. Schwenk

Manuscripts, Articles, Book Chapters and Other Papers

Objective: To characterize antifungal prescribing patterns, including the indication for antifungal use, in hospitalized children across the United States.

Design: We analyzed antifungal prescribing data from 32 hospitals that participated in the SHARPS Antibiotic Resistance, Prescribing, and Efficacy among Children (SHARPEC) study, a cross-sectional point-prevalence survey conducted between June 2016 and December 2017.

Methods: Inpatients aged < 18 years with an active systemic antifungal order were included in the analysis. We classified antifungal prescribing by indication (ie, prophylaxis, empiric, targeted), and we compared the proportion of patients in each category based on patient and antifungal characteristics.

Results: Among 34,927 surveyed patients, 2,095 (6%) received at least 1 systemic antifungal and there were 2,207 antifungal prescriptions. Most patients had an underlying oncology or bone marrow transplant diagnosis (57%) or were premature (13%). The most prescribed antifungal was fluconazole (48%) and the …

Ispad Clinical Practice Consensus Guidelines 2022: Assessment And Management Of Hypoglycemia In Children And Adolescents With Diabetes, Mary B. Abraham, Beate Karges, Klemen Dovc, Diana Naranjo, Ana Maria Arbelaez, Joyce Mbogo, Ganesh Javelikar, Timothy W. Jones, Farid H. Mahmud

Paediatrics and Child Health, East Africa

No abstract provided.

The Ward Round: Friend Or Foe In Postgraduate Training? A Grounded Theory Study Of Residents’ Perspectives, Mariam Noorani

Paediatrics and Child Health, East Africa

The ward round has traditionally been a learning activity in medical education. Apart from education, ward rounds have multiple roles including patient care and communication. Some studies have described the ward round as an ideal place to learn patient management while others reported that little learning happens on rounds due to lack of time and patient volume. This study aimed to develop a deeper understanding of ward round learning from the perspec-tive of postgraduate trainees. A constructivist grounded theory approach was used and data was collected during focus group discussions. Data were analyzed by initial coding, then grouped into focused …

Management Of Multisystem Inflammatory Syndrome In Children (Mis-C) In Resource Limited Settings: The Kenyan Experience, Angela Migowa, Pauline Samia, Del-Rossi Sean, Oliver Ombeva Malande, Jasmit Shah, Chemutai Kenei, Joy Ayaya, Daisy Jeruto, Laura Oyiengo, Laura Lewandowski

Paediatrics and Child Health, East Africa

Background: Since the onset of the recent COVID-19 pandemic, there have been growing concerns regarding multisystem inflammatory syndrome in children (MIS-C). This study aims to describe the clinico-epidemiological profile and challenges in management of MIS-C in low-middle income countries by highlighting the Kenyan experience.

Methods: A retrospective study at the Aga Khan University Hospital Nairobi, Avenue Hospital Kisumu and Kapsabet County Referral Hospital was undertaken to identify cases of MIS-C. A detailed chart review using the World Health Organization (WHO) data collection tool was adapted to incorporate information on socio-demographic details and treatment regimens.

Findings: Twenty children with MIS-C were …

Blackwater Fever And Acute Kidney Injury In Children Hospitalized With An Acute Febrile Illness: Pathophysiology And Prognostic Significance, Andrea Conroy, Michael Hawkes, Aleksandra Leligdowicz, Ivan Mufumba, Michelle Starr, Kathleen Zhong, Sophie Namasopo, Robert Opoka, Chandy John, Kevin C. Kain

Paediatrics and Child Health, East Africa

Background: Acute kidney injury (AKI) and blackwater fever (BWF) are related but distinct renal complications of acute febrile illness in East Africa. The pathogenesis and prognostic signifcance of BWF and AKI are not well understood.

Methods: A prospective observational cohort study was conducted to evaluate the association between BWF and AKI in children hospitalized with an acute febrile illness. Secondary objectives were to examine the association of AKI and BWF with (i) host response biomarkers and (ii) mortality. AKI was defned using the Kidney Disease: Improving Global Outcomes criteria and BWF was based on parental report of tea-colored urine. Host …

Knowledge, Attitudes, And Practices (Kap) Towards Covid-19 Pandemic Among Pregnant Women In A Tertiary Hospital In Karachi, Pakistan, Sumaira Naz, Syeda Dur E Shawar, Shamila Saleem, Ayesha Malik, Amir Raza

Department of Obstetrics & Gynaecology

Background: The aim of this study was to evaluate the knowledge, attitude, and practices (KAP) of the pregnant population during the COVID-19 pandemic in a tertiary care hospital.
Methods: This cross-sectional study was conducted at Aga Khan University Hospital, Karachi, Pakistan. KAP towards COVID-19 was assessed using 21-item questionnaires. A score for each category was calculated and points were summed. The outcome variables of KAP were compared with demographic characteristics. Data were analyzed by using SPSS 19.
Results: A total of 377 patients participated in the study. The majority of the patients were multiparous (36.8%) in the age group of …

Tip-Over Injuries Among Children: Data From An Urban Emergency Department Of Karachi, Pakistan, Rubaba Naeem, Asrar Ali, Ahmed Raheem Buksh, Ayesha Quddusi, Uzma Rahim Khan

Department of Emergency Medicine

Introduction: Most unintentional injuries among children occur in the home environment. Tip-overs, defined as incidents where heavy objects fall on children due to some type of interaction, are one of the reasons for injuries inside the home. This study aims to determine injury patterns and outcomes for child injuries resulting from tip-overs in the home environment as reported in the emergency department.
Methods: We performed a retrospective chart review of pediatric (under 18 years) tip-overs injuries occurred in years 2010 to 2015 at the Aga Khan University Hospital. Furthermore, parents of injured children participated in phone interviews to provide information …

Routine Immunization Coverage And Immunization Card Retention In Pakistan: Results From A Cross-Sectional National Survey, Imtiaz Hussain, Ahmad Khan, Dale A. Rhoda, Imran Ahmed, Muhammad Umer, Uzair Ansari, Muhammad Akram Shah, Soofia Yunus, Sajid Bashir Soofi, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: Immunization is one of the most successful public health interventions available, saving millions of lives from death and disability each year. Therefore, improving immunization coverage is a high priority for the Government of Pakistan and essential to progress toward universal health coverage. This survey reports the national and provincial/regional coverage and determinants of fully, partially, and not-vaccinated children aged 12–23 months, antigen-wise coverage, percentage of home-based vaccination records (HBR) retention, and reasons for nonretention; dropout, timeliness, and prevalence of missed opportunities for simultaneous vaccination (MOSV).
Methods: The survey was a descriptive cross-sectional national household survey carried out across Pakistan. …

Immunity To Poliovirus In Afghanistan: A Household Sampling Method For Serological Assessment Based On Geographical Information Systems, Amalia Mendes, Ari Whiteman, Benjamin Nygren, Brian Kaplan, Imtiaz Hussain, Sajid Bashir Soofi, Maureen Martinez, Noha H. Farag

Department of Paediatrics and Child Health

Afghanistan continues to experience challenges affecting polio eradication. Mass polio vaccination campaigns, which aim to protect children under the age of 5, are a key eradication strategy. To date, the polio program in Afghanistan has only employed facility-based seroprevalence surveys, which can be subject to sampling bias. We describe the feasibility in implementing a cross-sectional household poliovirus seroprevalence survey based on geographical information systems (GIS) in three districts. Digital maps with randomly selected predetermined starting points were provided to teams, with a total target of 1,632 households. Teams were instructed to navigate to predetermined starting points and enrol the closest …

The Diagnosis Of Severe Combined Immunodeficiency: Implementation Of The Pidtc 2022 Definitions, Christopher C. Dvorak, Elie Haddad, Jennifer Heimall, Elizabeth Dunn, Morton J. Cowan, Sung-Yun Pai, Neena Kapoor, Lisa Forbes Satter, Rebecca H. Buckley, Richard J. O'Reilly, Sharat Chandra, Jeffrey J. Bednarski, Olatundun Williams, Ahmad Rayes, Theodore B. Moore, Christen L. Ebens, Blachy J. Davila Saldana, Aleksandra Petrovic, Deepak Chellapandian, Geoffrey D. E. Cuvelier, Mark T. Vander Lugt, Emi H. Caywood, Shanmuganathan Chandrakasan, Hesham Eissa, Frederick D. Goldman, Evan Shereck, Victor M. Aquino, Kenneth B. Desantes, Lolie Yu, Et Al

School of Medicine Faculty Publications

Background: Shearer et al in 2014 articulated well-defined criteria for the diagnosis and classification of severe combined immunodeficiency (SCID) as part of the Primary Immune Deficiency Treatment Consortium's (PIDTC's) prospective and retrospective studies of SCID. Objective: Because of the advent of newborn screening for SCID and expanded availability of genetic sequencing, revision of the PIDTC 2014 Criteria was needed. Methods: We developed and tested updated PIDTC 2022 SCID Definitions by analyzing 379 patients proposed for prospective enrollment into Protocol 6901, focusing on the ability to distinguish patients with various SCID subtypes. Results: According to PIDTC 2022 Definitions, 18 of 353 …

Amplification Of The Plag-Family Genes-Plagl1 And Plagl2-Is A Key Feature Of The Novel Tumor Type Cns Embryonal Tumor With Plagl Amplification, Michaela-Kristina Keck, Martin Sill, Andrea Wittmann, Piyush Joshi, Damian Stichel, Pengbo Beck, Konstantin Okonechnikow, Philipp Sievers, Annika K. Wefers, Nasir Uddin

Department of Pathology and Laboratory Medicine

Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0-14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. Here, we use DNA methylation-based CNS tumor classification in combination with copy number, RNA-seq, and ChIP-seq analysis to characterize a newly identified CNS tumor type. In addition, we report histology, patient characteristics, and survival data in this tumor type. We describe a biologically distinct pediatric CNS tumor type (n = 31 cases) that is characterized by focal …

Tonsillectomy In Children With 22q11.2 Deletion Syndrome., Jill M. Arganbright, Paul Bryan Hankey, Meghan Tracy, Srivats Narayanan, Janelle R. Noel-Macdonnell Phd, David G. Ingram Md

Manuscripts, Articles, Book Chapters and Other Papers

Tonsillectomy is one of the most common procedures performed in children, however there are currently no published studies evaluating tonsillectomy in children with 22q11.2 deletion syndrome (22q11DS). With this study, our goal was to investigate the indications, efficacy, and complications of tonsillectomy in a pediatric cohort of patients with 22q11DS. This is a retrospective chart review of patients in our 22q Center's repository. Inclusion criteria were a diagnosis of 22q11DS and a history of tonsillectomy or adenotonsillectomy. Data collected included: indications for tonsillectomy, preoperative and postoperative polysomnography (PSG) results, and surgical complications. In total, 33 patients were included. Most common …

Mechanisms Of Recovery: Community Perceptions Of Change And Growth Following Multiple Disasters, Howard Osofsky, Joy Osofsky, Leia Y. Saltzman, Estilla Lightfoot, Jule De King, Tonya C. Hansel

School of Medicine Faculty Publications

Introduction and purpose: The geographic location of the Gulf South leaves communities in continuous threat, response, and recovery disaster cycles. Hurricane Katrina in 2005 provided an opportunity to study disaster mental health. Less than 5 years after the storm, many Hurricane Katrina survivors were impacted again by the Deepwater Horizon Gulf oil spill. Despite adversities impacting Gulf communities, over 90% of participants reported they were resilient. The purpose of this study was to improve the understanding of the mechanisms that contribute to strengths following adversity in communities affected by repeated disasters. Specifically, we focused on survivor perceptions of personal, spiritual, …

Psychometric Properties Of The Sindhi Version Of The Mood And Feelings Questionnaire (Mfq) In A Sample Of Early Adolescents Living In Rural Pakistan, Janavi Shetty, Florence Perquier, Susan C. Campisi, Yaqub Wasan, Madison Aitken, Daphne J. Korczak, Suneeta Monga, Sajid Bashir Soofi, Peter Szatmari, Zulfiqar Ahmed Bhutta

Centre of Excellence in Women and Child Health

There is a need for reliable and valid screening tools that assess depressive symptoms in adolescents in Pakistan. To address this need, the present study examined the psychometric properties and factor structure of a Sindhi-translated and adapted version of the child-report Mood and Feelings Questionnaire (MFQ-C) and the Short Mood and Feelings Questionnaire (SMFQ-C) in a community sample of adolescents living in Matiari, Pakistan. Questionnaires were translated into Sindhi and administered by study psychologists to 1350 participants (52.3% female) 9.0 to 15.9 years old. Measurement structure was examined using confirmatory factor analysis. Internal consistency was estimated, and convergent and divergent …

Pregnancy Outcomes Of Patients With Ultrasound-Indicated And History-Indicated Mcdonald Cervical Cerclage, Zaibunnisa Memon, Naureen Anjum, Zahra Hoodbhoy

Department of Obstetrics & Gynaecology

Objective: To assess pregnancy outcomes of patients with ultrasound-indicated and history-indicated McDonald cervical cerclage.
Materials and methods: This was a cross-sectional study of pregnant women who had cervical cerclage performed at Aga Khan University Hospital, Karimabad campus. We obtained Institutional Review Board approval and reviewed the medical records of patients. A purposive continuous sampling technique was used. A total of 88 patients were included. There were no exclusion criteria. Outcome data were collected from the medical record of patients from January 2010 to December 2016.
Results: Analysis reported a statistically significant lower gravidity and parity in the scan-indicated group as …

Screening For Social Determinants Of Health To Improve Care In Pediatric Patients With Recurrent Urinary Tract Infections: A Scoping Review, Emily Gray Msn, Fnp-C, Michelle Rickard Dnp, Cpnp-Ac

Doctor of Nursing Practice Projects

Purpose: To describe what is known about how SDoH screening impacts adherence to treatment in pediatric patients with recurrent UTIs.

A Roadmap For Potential Improvement Of Newborn Screening For Inherited Metabolic Diseases Following Recent Developments And Successful Applications Of Bivariate Normal Limits For Pre-Symptomatic Detection Of Mps I, Pompe Disease, And Krabbe Disease, Kabir Jalal, Randy L Carter, Amy Barczykowski, Shunji Tomatsu, Thomas J Langan

Department of Pediatrics Faculty Papers

The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services' Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases. Glycosaminoglycans (GAGs) offer potential as a confirmatory test. KD NBS programs utilize galactocerebrosidase (GaLC) …

Ventilation Strategies During Extracorporeal Membrane Oxygenation For Neonatal Respiratory Failure: Current Approaches Among Level Iv Neonatal Icus, John Ibrahim, Burhan Mahmood, Robert Digeronimo, Natalie E Rintoul, Shannon E Hamrick, Rachel Chapman, Sarah Keene, Ruth B Seabrook, Zeenia Billimoria, Rakesh Rao, John Daniel, John Cleary, Kevin Sullivan, Brian Gray, Mark Weems, Daniel R Dirnberger

Department of Pediatrics Faculty Papers

To describe ventilation strategies used during extracorporeal membrane oxygenation (ECMO) for neonatal respiratory failure among level IV neonatal ICUs (NICUs).

Design: Cross-sectional electronic survey.

Setting: Email-based Research Electronic Data Capture survey.

Patients: Neonates undergoing ECMO for respiratory failure at level IV NICUs.

Interventions: A 40-question survey was sent to site sponsors of regional referral neonatal ECMO centers participating in the Children's Hospitals Neonatal Consortium. Reminder emails were sent at 2- and 4-week intervals.

Measurements and main results: Twenty ECMO centers responded to the survey. Most primarily use venoarterial ECMO (65%); this percentage is higher (90%) for congenital diaphragmatic hernia. Sixty-five …

Effect Of Dexamethasone On Newborn Survival At Different Administration-To-Birth Intervals: A Secondary Analysis Of The Who Action (Antenatal Corticosteroids For Improving Outcomes In Preterm Newborn)-I Trial, Who Action Trials Collaborators, Olufemi T. Oladapo, Joshua P. Vogel, Gilda Piaggio, My Huong Nguyen, Fernando Althabe, Rajiv Bahl, Suman P. N. Rao, Shabina Ariff, Sajid Bashir Soofi, Lumaan Sheikh

Department of Paediatrics and Child Health

Background: The WHO ACTION-I trial demonstrated that dexamethasone significantly reduced neonatal mortality when administered to women at risk of early preterm birth in low-resource countries. We conducted a secondary analysis to determine how these benefits can be optimised, by evaluating the effect of dexamethasone compared to placebo on newborn mortality and severe respiratory distress outcomes at different administration-to-birth intervals, and identifying the interval with the greatest benefits.
Methods: The WHO ACTION-I trial was a multi-country, individually-randomised, parallel-group, double-blind, placebo-controlled trial. It was conducted in 29 hospitals across Bangladesh, India, Kenya, Nigeria, and Pakistan. Women with a viable singleton or multiple …

The Gain Of Function Scn1a Disorder Spectrum: Novel Epilepsy Phenotypes And Therapeutic Implications, Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart Macleod, Dragan Marjanovic, Amy Mctague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M. Scott Perry, Karen Pysden, Sophie J. Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham

School of Medicine Faculty Publications

Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated with familial hemiplegic migraine type 3. Novel SCN1A-related phenotypes have been described including early infantile developmental and epileptic encephalopathy with movement disorder, and more recently neonatal presentations with arthrogryposis. Here we describe the clinical, genetic and functional evaluation of affected individuals. Thirty-five patients were ascertained via an international collaborative network using a structured clinical questionnaire and from the literature. We performed whole-cell voltage-clamp electrophysiological recordings comparing …

Frosted Branch Angiitis Presenting After A Sars-Cov-2 Infection., Akhila Alapati, Nathaniel Cameron, Sean Gratton, Erin Stahl, Mary Champion

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: To report a case of frosted branch angiitis presenting in a pediatric patient with unremarkable laboratory work-up apart from SARS-CoV-2 IgG antibodies.

OBSERVATIONS: Less than four weeks after a SARS-CoV-2 infection, a 10 year-old female presented to the emergency department with severe headache and intermittent fevers. During her hospital admission, the ophthalmology service was consulted for blurry vision. Subsequent eye examination revealed frosted branch angiitis. The patient initially received intravenous corticosteroids but was escalated to plasmapheresis to achieve resolution of her symptoms. Outpatient maintenance therapy consisted of an oral Prednisone taper and Infliximab infusion.

CONCLUSION AND IMPORTANCE: This case …

Evaluation Of Pharmaceutically Compounded Oral Caffeine On The Impact Of Medication Adherence And Risk Of Readmission Among Preterm Neonates: A Single-Center Quasi-Experimental Study, Gul Ambreen, Manoj Kumar, Amin Ali, Syed Akbar Ali Shah, Syed Muzaffar Saleem, Ayesha Tahir, Muhammad Sohail Salat, Muhammad Shahzad Aslam, Kashif Hussain

Department of Biological & Biomedical Sciences

Background: Caffeine is available in an ampoule, used via parenteral and enteral routes in preterm neonates to treat apnea of prematurity (AOP) in neonates of gestational age ≥ 35-40 weeks. A longer duration of therapy has a higher risk of medication non-adherence due to higher costs and inappropriate dosage forms. Pharmaceutically compounded oral caffeine (PCC) could be an appropriate alternate dosage form. The researchers aimed to determine the impact of PCC on medication-related factors influencing medication adherence (MA) and the frequency of hospital readmission with apnea (HRA) in preterm neonates.
Methods: We conducted a single-center quasi-experimental study for this quality …

Changes In Prenatal Testing During The Covid-19 Pandemic, Sara C Handley, Rachel Ledyard, Lisbet S Lundsberg, Molly Passarella, Nancy Yang, Moeun Son, Kathryn Mckenney, Jay S. Greenspan, Kevin Dysart, Jennifer F Culhane, Heather H Burris

Department of Pediatrics Faculty Papers

Objective: The coronavirus disease 2019 (COVID-19) pandemic disrupted healthcare delivery, including prenatal care. The study objective was to assess if timing of routine prenatal testing changed during the COVID-19 pandemic.

Methods: Retrospective observational cohort study using claims data from a regional insurer (Highmark) and electronic health record data from two academic health systems (Penn Medicine and Yale New Haven) to compare prenatal testing timing in the pre-pandemic (03/10/2018-12/31/2018 and 03/10/2019-12/31/2019) and early COVID-19 pandemic (03/10/2020-12/31/2020) periods. Primary outcomes were second trimester fetal anatomy ultrasounds and gestational diabetes (GDM) testing. A secondary analysis examined first trimester ultrasounds.

Results: The three datasets …