Medicine and Health Sciences Commons^™

Cleft Palate Repair Enhanced Recovery After Surgery, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Diabetic Ketoacidosis Continuous Glucose Monitors, Children's Mercy Kansas City

Clinical Critically Appraised Topics

No abstract provided.

Abdominal Pain For Community Providers, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Sleep Problems And Psychological Well-Being: Baseline Findings From The Canadian Longitudinal Study On Aging, Kelly Anderson, Rebecca Rodrigues, Kathryn Nicholson, Giuseppe Guaiana, Piotr Wilk, Saverio Stranges

Data and Test Instruments

No abstract provided.

Newly Diagnosed Solid Tumors (Diagnostic Management), Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Croup, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Clinical Practice Guidelines)

No abstract provided.

The Causes Of Preterm Neonatal Deaths In India And Pakistan (Purpose): A Prospective Cohort Study, Sangappa M. Dhaded, Sarah Saleem, Shivaprasad S. Goudar, Shiyam Sunder Tikmani, Kay Hwang, Gowdar Guruprasad, Gayathri H. Aradhya, Varun B. Kusagur, Sana Roujani, Sayyeda Reza

Community Health Sciences

Background: Preterm birth remains the major cause of neonatal death worldwide. South Asia contributes disproportionately to deaths among preterm births worldwide, yet few population-based studies have assessed the underlying causes of deaths. Novel evaluations, including histological and bacteriological assessments of placental and fetal tissues, facilitate more precise determination of the underlying causes of preterm deaths. We sought to assess underlying and contributing causes of preterm neonatal deaths in India and Pakistan.
Methods: The project to understand and research preterm pregnancy outcomes and stillbirths in South Asia (PURPOSe) was a prospective cohort study done in three hospitals in Davangere, India, and …

Nocturnal Dipping And Kidney Function Decline: Findings From The Ckd In Children Study, Christine Y Bakhoum, Manali Phadke, Yanhong Deng, Joshua A Samuels, Pranav S Garimella, Susan L Furth, F Perry Wilson, Joachim H Ix

Faculty, Staff and Student Publications

INTRODUCTION: Normally, blood pressure (BP) declines by at least 10% from daytime to nighttime. In adults, blunted nocturnal dipping has been associated with more rapid decline in kidney function. Nondipping is prevalent in children with chronic kidney disease (CKD). We sought to determine whether nondipping is associated with proteinuria and progression to kidney failure in children with CKD.

METHODS: In the prospective CKD in children (CKiD) cohort, Cox proportional hazards models were used to evaluate the relationship between baseline nondipping and progression to kidney failure. Linear mixed effects models were used to evaluate the relationship between nondipping and changes in …

Neurodevelopment And Recovery From Wasting, Harriet M. Babikako, Celine Bourdon, Emmie Mbale, Peace Aber, Annet Birabwa, Josephine Chimoyo, Wieger Voskuijl, Zaubina Kazi, John Mukisa, Ali Faisal Saleem

Department of Paediatrics and Child Health

Background and objectives: Acute illness with malnutrition is a common indication for hospitalization among children in low- and middle-income countries. We investigated the association between wasting recovery trajectories and neurodevelopmental outcomes in young children 6 months after hospitalization for an acute illness.
Methods: Children aged 2 to 23 months were enrolled in a prospective observational cohort of the Childhood Acute Illness & Nutrition Network, in Uganda, Malawi, and Pakistan between January 2017 and January 2019. We grouped children on the basis of their wasting recovery trajectories using change in mid-upper arm circumference for age z-score. Neurodevelopment was assessed with the …

Covid-19, Nutrition, And Gender: An Evidence-Informed Approach To Gender-Responsive Policies And Programs, Anna Kalbarczyk, Noora-Lisa Aberman, Bregje S M Van Asperen, Rosemary Morgan, Zulfiqar Ahmed Bhutta, Bianca Carducci, Rebecca Heidkamp, Saskia Osendarp, Neha Kumar, Anna Lartey

Department of Paediatrics and Child Health

In addition to the direct health impacts of COVID-19, government and household mitigation measures have triggered negative indirect economic, educational, and food and health system impacts, hitting low-and middle-income countries the hardest and disproportionately affecting women and girls. We conducted a gender focused analysis on five critical and interwoven crises that have emerged because of the COVID-19 crisis and exacerbated malnutrition and food insecurity. These include restricted mobility and isolation; reduced income; food insecurity; reduced access to essential health and nutrition services; and school closures. Our approach included a theoretical gender analysis, targeted review of the literature, and a visual …

Risk Factors For Community-Acquired Bacterial Infection Among Young Infants In South Asia: A Longitudinal Cohort Study With Nested Case–Control Analysis, Nicholas E. Connor, Mohammad Shahidul Islam, Luke C. Mullany, Nong Shang, Zulfiqar Ahmed Bhutta, Anita K. M. Zaidi, Sajid Bashir Soofi, Muhammad Imran Nisar, Pinaki Panigrahi, Kalpana Panigrahi

Department of Paediatrics and Child Health

Objective: Risk factors predisposing infants to community-acquired bacterial infections during the first 2 months of life are poorly understood in South Asia. Identifying risk factors for infection could lead to improved preventive measures and antibiotic stewardship.
Methods: Five sites in Bangladesh, India and Pakistan enrolled mother-child pairs via population-based pregnancy surveillance by community health workers. Medical, sociodemographic and epidemiological risk factor data were collected. Young infants aged 0-59 days with signs of possible serious bacterial infection (pSBI) and age-matched controls provided blood and respiratory specimens that were analysed by blood culture and real-time PCR. These tests were used to build …

Measurement Of Sound Levels In A Neonatal Intensive Care Unit Of A Tertiary Care Hospital, Karachi, Pakistan, Saleema Khowaja, Shabina Ariff, Laila Ladak, Zainab Manan, Tazeen S. Ali

Department of Paediatrics and Child Health

Background: High sound levels in the neonatal intensive care unit (NICU) can alter preterm newborn hemodynamics and cause long-term neuro-developmental delays and hearing loss. The study aims to collate data on sound levels in a level IV NICU of a tertiary care hospital, identify the factors associated with them, and compare them with the international standards set by the World Health Organization (WHO), Environmental Protection Agency (EPA), and American Academy of Pediatrics (AAP).
Methods: We carried out a cross-sectional study in NICU from 8th April 2019 to 30th June 2019. Sound levels were recorded for 480 h, using a portable …

Improving Fluid Management Of Extreme Premature Infants By Providing A Restrictive Fluid Management Algorithm In The Icn, Jacob S. Ward, Dena Hubbard, Nicholas Clark

Posters

Intro: Excessive fluid intake in extremely premature infants during the first week of life is known to increase risk of adverse events such as necrotizing enterocolitis (NEC), patent ductus arteriosus (PDA), and overall mortality. There also is some correlation with the need for mechanical ventilation and development bronchopulmonary dysplasia (BPD). While fluid restriction is recommended to decrease the likelihood of adverse outcomes, at our institution we found there was a wide variability in and lack of evidence-based standards on fluid management in this vulnerable population. We aimed to improve the fluid management of the extremely premature infants by standardizing a …

A Review Of Ferric Citrate Clinical Studies, And The Rationale And Design Of The Ferric Citrate And Chronic Kidney Disease In Children (Fit4kid) Trial., Mark R. Hanudel, Marciana L. Laster, Anthony A. Portale, Aditi Dokras, Raymond P. Quigley, German A Lozano Guzman, Joshua J. Zaritsky, Nicole A. Hayde, Frederick J. Kaskel, Mark M. Mitsnefes, Jorge A. Ramirez, Peace D. Imani, Poyyapakkam R. Srivaths, Amy J. Kogon, Michelle R. Denburg, Tom D. Blydt-Hansen, Loretta Z. Reyes, Larry A. Greenbaum, Darcy K. Weidemann, Bradley A. Warady, David A. Elashoff, Susan R. Mendley, Tamara Isakova, Isidro B. Salusky

Manuscripts, Articles, Book Chapters and Other Papers

Pediatric chronic kidney disease (CKD) is characterized by many co-morbidities, including impaired growth and development, CKD-mineral and bone disorder, anemia, dysregulated iron metabolism, and cardiovascular disease. In pediatric CKD cohorts, higher circulating concentrations of fibroblast growth factor 23 (FGF23) are associated with some of these adverse clinical outcomes, including CKD progression and left ventricular hypertrophy. It is hypothesized that lowering FGF23 levels will reduce the risk of these events and improve clinical outcomes. Reducing FGF23 levels in CKD may be accomplished by targeting two key stimuli of FGF23 production-dietary phosphate absorption and iron deficiency. Ferric citrate is approved for use …

Cardiac Biomarkers In Differentiating Kawasaki Disease And Multisystem Inflammatory Syndrome In Children Associated With Covid-19, Mollie Walton, Geetha Raghuveer, K Kamakoti, N Dahdah, L Garrido, S Tierney, T Harris, M Khoury, M Hicar, E Braunlin, D Thacker, M Khare, F Dallaire, R Lowndes, I Glassmeyer, J Ballweg, G Goldenberg, S Merves, C Manlhiot, P Farid, Bw Mccrindle

Posters

Introduction – Kawasaki disease (KD) and Multisystem Inflammatory Syndrome in Children (MIS-C) associated with COVID-19 show considerable clinical overlap making differentiation challenging, particularly in the absence of evidence of evidence of prior COVID-19. Hypothesis – Cardiac biomarkers can differentiate KD from MIS-C. Methods – The International KD Registry enrolled n=2903 contemporaneous KD, MIS-C and acute COVID-19 pediatric patients from 42 sites in 8 countries from January 2020 through July 2022. The study population was confined to 1489 MIS-C patients meeting CDC criteria with confirmed evidence of prior COVID-19 infection and 387 KD patients meeting AHA guideline criteria with confirmed evidence …

Speech-Language Disorder Severity, Academic Success, And Socioemotional Functioning Among Multilingual And English Children In The United States: The National Survey Of Children’S Health, Martin L Blakely, Matthew A Rysavy, Kevin P Lally, Barry Eggleston, Claudia Pedroza, Jon E Tyson

Faculty, Staff and Student Publications

Randomized controlled trials (RCTs) are challenging, but are the studies most likely to change practice and benefit patients. RCTs investigating neonatal surgical therapies are rare. The Necrotizing Enterocolitis Surgery Trial (NEST) was the first surgical RCT conducted by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Neonatal Research Network (NRN), and multiple lessons were learned. NEST was conducted over a 7.25-year enrollment period and the primary outcome was death or neurodevelopmental impairment (NDI) at 18-22 months corrected age. Surgical investigators designing clinical trials involving neonatal surgical treatments have many considerations to include, including how to …

Outcome Prediction In Newborn Infants: Past, Present, And Future, Vivek V Shukla, Matthew A Rysavy, Abhik Das, Jon E Tyson, Edward F Bell, Namasivayam Ambalavanan, Waldemar A Carlo

Faculty, Staff and Student Publications

The perinatal and neonatal periods are the periods of considerable organ development and maturation. Perinatal and neonatal illnesses can result in mortality and morbidities that burden families and the healthcare system. Outcome prediction is essential for informing perinatal and intensive care management, prognosis, and post-discharge interventions. The Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network (NRN) research databases include hospital and neurodevelopment follow-up outcomes of infants with various underlying diseases and conditions receiving intensive care, providing a unique opportunity to assess outcome risk prediction. The NRN has developed outcome risk prediction tools for use …

Evaluating The Clinical Impact Of A Novel Pediatric Emergency Medicine Curriculum On Asthma Outcomes In Belize, Adeola A Kosoko, Amelia A Khoei, Swapnil Khose, Alicia E Genisca, Joy M Mackey

Faculty, Staff and Student Publications

BACKGROUND: Respiratory-related complaints prompt most pediatric visits to Karl Heusner Memorial Hospital Authority's (KHMHA) Emergency Department (ED) in Belize. We developed and taught a novel pediatric respiratory emergencies module for generalist practitioners there. We assessed the curriculum's clinical impact on pediatric asthma emergency management.

OBJECTIVE: This study assesses the clinical impact of a pediatric emergency medicine curriculum on management of pediatric asthma emergencies at KHMHA in Belize City, Belize.

METHODS: We conducted a randomized chart review of pediatric (aged 2-16 y) visits for asthma-related diagnosis at the KHMHA ED between 2015 and 2018 to assess the training module's clinical impact. …

Does Attention-Deficit/Hyperactivity Disorder Increase The Risk Of Minor Blunt Head Trauma In Children?, Murat Pakyurek, Mohamed Badawy, Irma T Ugalde, Paul Ishimine, Pradip P Chaudhari, Kevan Mccarten-Gibbs, Ozra Nobari, Nathan Kuppermann, James F Holmes

Faculty, Staff and Student Publications

PROBLEM: It is unclear if attention-deficit hyperactivity disorder (ADHD) increases the risk of head trauma in children.

METHODS: We conducted a multicenter prospective observational study of children with minor blunt head trauma. Guardians were queried, and medical records were reviewed as to whether the patient had previously been diagnosed with ADHD. Enrolled patients were categorized based on their mechanism of injury, with a comparison of those with motor vehicle collision (MVC) versus non-MVC mechanisms.

FINDINGS: A total of 3410 (84%) enrolled children had ADHD status available, and 274 (8.0%; 95% confidence interval, CI: 7.1, 9.0%) had been diagnosed with ADHD. …

The Impact Of Vitamin A Deficiency On Tuberculosis Progression, Antonio F Corno, Jorge D Salazar

Faculty, Staff and Student Publications

No abstract provided.

Investigation Of Murine Host Sex As A Biological Variable In Epithelial Barrier Function And Muscle Contractility In Human Intestinal Organoids, Brooke T Beanland, Eoin P Mcneill, David J Sequeira, Hasen Xue, Noah F Shroyer, Allison L Speer

Faculty, Staff and Student Publications

Intestinal failure (IF) occurs when intestinal surface area or function is not sufficient to support digestion and nutrient absorption. Human intestinal organoid (HIO)-derived tissue-engineered intestine is a potential cure for IF. Research to date has demonstrated successful HIO transplantation (tHIO) into mice with significant in vivo maturation. An area lacking in the literature is exploration of murine host sex as a biological variable (SABV) in tHIO function. In this study, we investigate murine host SABV in tHIO epithelial barrier function and muscle contractility. HIOs were generated in vitro and transplanted into nonobese diabetic, severe combined immunodeficiency gamma chain deficient male …

Exploration Of The Minimum Necessary Fviii Level At Different Physical Activity Levels In Pediatric Patients With Hemophilia A, Di Ai, Kun Huang, Gang Li, Yingzi Zhen, Xinyi Wu, Ningning Zhang, Aihua Huo, Zhenping Chen, Runhui Wu

Faculty, Staff and Student Publications

BACKGROUND: Physical activity can increase joint stability and reduce the risk of injury in hemophilia patients. There is limited clinical data on target trough FVIII levels during physical activity in hemophilia A patients. Hence, this study aimed to explore the target trough FVIII level required to avoid bleeding during different physical activities in hemophilia A patients.

METHODS: Patients with severe or moderate hemophilia A, who underwent pharmacokinetics (PK) tests at our center were enrolled in this study. Physical activities and clinical information such as bleeding were recorded. The FVIII level during physical activity was calculated by the WAPPS-Hemo.

RESULTS: A …

Active Vs Traditional Methods Of Recruiting Children For A Clinical Trial In Rural Primary Care Clinics: A Cluster-Randomized Clinical Trial, Paul M Darden, Ann M Davis, Jeannette Y Lee, Milan Bimali, Alan E Simon, Andrew M Atz, Crystal S Lim, Thao-Ly Phan, James R Roberts, Russell J Mcculloh, Lee Pyles, Michelle Shaffer, Jessica N Snowden

Department of Pediatrics Faculty Papers

Importance: To our knowledge, there are no published randomized clinical trials of recruitment strategies. Rigorously evaluated successful recruitment strategies for children are needed.

Objective: To evaluate the feasibility of 2 recruitment methods for enrolling rural children through primary care clinics to assess whether either or both methods are sufficiently effective for enrolling participants into a clinical trial of a behavioral telehealth intervention for children with overweight or obesity.

Design, setting, and participants: This cluster-randomized clinical trial of 2 recruitment methods was conducted at 4 primary care clinics in 4 separate states. Each clinic used both recruitment methods in random order. …

Alleviating Hidden Hunger: An Infallible Bridge To Improved Health And Nutrition, Jai K. Das, Zahra Ali Padhani

Department of Paediatrics and Child Health

No abstract provided.

Clinical And Molecular Features Of Pediatric Cancer Patients With Lynch Syndrome, Sarah Scollon, Mohammad K Eldomery, Jacquelyn Reuther, Frank Y Lin, Samara L Potter, Lauren Desrosiers, Kenneth L Mcclain, Valeria Smith, Jack Meng-Fen Su, Rajkumar Venkatramani, Jianhong Hu, Viktoriya Korchina, Neda Zarrin-Khameh, Richard A Gibbs, Donna M Muzny, Christine Eng, Angshumoy Roy, D Williams Parsons, Sharon E Plon

Faculty, Staff and Students Publications

BACKGROUND: The association of childhood cancer with Lynch syndrome is not established compared with the significant pediatric cancer risk in recessive constitutional mismatch repair deficiency syndrome (CMMRD).

PROCEDURE: We describe the clinical features, germline analysis, and tumor genomic profiling of patients with Lynch syndrome among patients enrolled in pediatric cancer genomic studies.

RESULTS: There were six of 773 (0.8%) pediatric patients with solid tumors identified with Lynch syndrome, defined as a germline heterozygous pathogenic variant in one of the mismatch repair (MMR) genes (three with MSH6, two with MLH1, and one with MSH2). Tumor analysis demonstrated evidence for somatic second …

Nurturing Children’S Development Through Healthy Eating And Active Living: Time For Policies To Support Effective Interventions In The Context Of Responsive Emotional Support And Early Learning, Helen Skouteris, Rachael Green, Alexandra Chung, Heidi Bergmeier, Lisa H Amir, Sukhpreet Kaur Baidwan, Angel Marie Chater, Catherine Chamberlain, Ruth Emond, Kay Gibbons, Michelle Gooey, Kostas Hatzikiriakidis, Emma Haycraft, Andrew P Hills, Daryl J Higgins, Oliver Hooper, Sue-Anne Hunter, Pam Kappelides, Sue Kleve, Jacynta Krakouer, Julie C Lumeng, Yannis Manios, Athar Mansoor, Michael Marmot, Louise C Mâsse, Karen Matvienko-Sikar, Zandile June-Rose Mchiza, Caroline Meyer, George Moschonis, Emily R Munro, Teresia Margareta O'Connor, Adrienne O'Neil, Thomas Quarmby, Rachel Sandford, Janet U Schneiderman, Simone Sherriff, Doug Simkiss, Alison Spence, Elizabeth Sturgiss, Dave Vicary, Rebecca Wickes, Luke Wolfenden, Mary Story, Maureen M Black

Faculty, Staff and Students Publications

Fostering the growth, development, health, and wellbeing of children is a global priority. The early childhood period presents a critical window to influence lifelong trajectories, however urgent multisectoral action is needed to ensure that families are adequately supported to nurture their children's growth and development. With a shared vision to give every child the best start in life, thus helping them reach their full developmental potential, we have formed the International Healthy Eating Active Living Matters (HEALing Matters) Alliance. Together, we form a global network of academics and practitioners working across child health and development, and who are dedicated to …

Analysis Of Insppire-2 Cohort: Risk Factors And Disease Burden In Children With Acute Recurrent Or Chronic Pancreatitis, Aliye Uc, Gretchen A Cress, Fuchenchu Wang, Maisam Abu-El-Haija, Kate M Ellery, Douglas S Fishman, Cheryl E Gariepy, Tanja Gonska, Tom K Lin, Quin Y Liu, Megha Mehta, Asim Maqbool, Brian A Mcferron, Veronique D Morinville, Chee Y Ooi, Emily R Perito, Sarah Jane Schwarzenberg, Zachary M Sellers, Jose Serrano, Uzma Shah, David M Troendle, Michael Wilschanski, Yuhua Zheng, Ying Yuan, Mark E Lowe, Consortium For The Study Of Chronic Pancreatitis, Diabetes And Pancreatic Cancer

Faculty, Staff and Students Publications

OBJECTIVES: The objective of this study is to investigate risk factors and disease burden in pediatric acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP).

METHODS: Data were obtained from INternational Study group of Pediatric Pancreatitis: In search for a cuRE-2 (INSPPIRE-2), the largest multi-center prospective cohort study in pediatric patients with ARP or CP.

RESULTS: Of 689 children, 365 had ARP (53%), 324 had CP (47%). CP was more commonly associated with female sex, younger age at first acute pancreatitis (AP) attack, Asian race, family history of CP, lower BMI%, genetic and obstructive factors, PRSS1 mutations and pancreas divisum. CFTR …

Safety Analysis Of High-Dose Methotrexate In Pediatric Non-Hodgkin Lymphomas, M Brooke Bernhardt, Austin L Brown, Austyn T Grim, Michael E Scheurer, Nader Kim El-Mallawany, Nmazuo W Ozuah

Center for Medical Ethics and Health Policy Staff Publications

High-dose methotrexate (HD-MTX) with rigorous supportive care is essential to the treatment of pediatric non-Hodgkin lymphomas (NHL). We describe the safety and tolerability of HD-MTX in patients with NHL treated at our center. In our cohort of 46 patients, the majority had at least one course of delayed clearance and/or creatinine elevation. Additionally, more than one-third of patients experienced an episode of grade ≥3 mucositis. Creatinine elevations and delayed clearance were independently associated with subsequent grade ≥3 mucositis. We advocate for greater availability of methotrexate monitoring to allow dose escalation of this essential modality around the world.

Disease Progression Of Whim Syndrome In An International Cohort Of 66 Pediatric And Adult Patients, Christoph B Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M Mcnulty, Melis Yilmaz, Martin Oman Evans, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A Connelly, David C Dale, Ekaterina Deordieva, Morna J Dorsey, Simon B Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A Naoum, Suzie A Noronha, Monia Ouederni, Shuichi Ozono, G Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O Sharapova, Katja Sockel, Alla Volokha, Malte Von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E Walter

Faculty, Staff and Students Publications

Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct CXCR4 genetic variants within our cohort, 11 were novel pathogenic variants affecting 15 individuals (23%). All variants affect the same CXCR4 region and impair CXCR4 internalization resulting in hyperactive signaling. The median age of diagnosis in our cohort (5.5 years) indicates WHIM syndrome can commonly present in childhood, although some patients are not …

Clinical Exome Sequencing Uncovers A High Frequency Of Mendelian Disorders In Infants With Stroke: A Retrospective Analysis, Runjun D Kumar, Linyan Meng, Pengfei Liu, Christina Y Miyake, Kim C Worley, Weimin Bi, Seema R Lalani

Faculty, Staff and Students Publications

Background:

Stroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1-5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES) in the evaluation of stroke.

Methods:

We retrospectively analyzed 124 individuals who received ES at the Baylor Genetics reference lab between 2012 and 2021 who had stroke as a major part of their reported phenotype.

Results:

Ages ranged from 10 days to 69 years. 8.9% of the cohort received a diagnosis, including 25% of infants less than 1 year old; an additional …