Medicine and Health Sciences Commons^™

Closed-Loop Cardiovascular Interactions And The Baroreflex Cardiac Arm: Modulations Over The 24 H And The Effect Of Hypertension, Gianfranco Parati, Paolo Castiglioni, Andrea Faini, Marco Di Rienzo, Giuseppe Mancia, Riccardo Barbieri, J. Philip Saul

Faculty & Staff Scholarship

Closed-loop models of the interactions between blood pressure (BP) and heart rate variations allow for estimation of baroreflex sensitivity (feedback effects of BP changes on heart rate) while also considering the feedforward effects of heart rate on BP. Our study is aimed at comparing modulations of feedback and feedforward couplings over 24 h in normotensive and hypertensive subjects, by assessing closed-loop baroreflex models in ambulatory conditions. Continuous intra-arterial BP recordings were performed for 24 h in eight normotensive and eight hypertensive subjects. Systolic BP (SBP) and pulse interval (PI) beat-by-beat series were analyzed by an autoregressive moving average model over …

Ampa Receptor Glua2 Subunit Defects Are A Cause Of Neurodevelopmental Disorders, V. Salpietro, C. L. Dixon, H. Guo, O. D. Bello, J. Vandrovcova, S. Efthymiou, R. Maroofian, S. Chen, L. Pisani, F. Madia, +90 Additional Authors

Journal Articles

© 2019, The Author(s). AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits …

Author Correction: Chd3 Helicase Domain Mutations Cause A Neurodevelopmental Syndrome With Macrocephaly And Impaired Speech And Language., L. S. Blok, J. Rousseau, J. Twist, S. Ehresmann, M. Takaku, H. Venselaar, L. H. Rodan, M. G. Bialer, C. Moore, M. Blyth, +90 Additional Authors

Journal Articles

© 2019, The Author(s). The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.

De Novo Interstitial Deletion Of 9q In A Pediatric Patient With Global Developmental Delay., D. Keselman, R. Singh, N. Cohen, Z. Fefer

Journal Articles

Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. The authors report on a child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33q22.31 detected by aCGH. The patient that the authors report here is noteworthy in that she presented with GDD and her interstitial deletion is not inclusive of the 9q22.32 locus that includes the PTCH1 gene, which is implicated in Gorlin syndrome, or basal cell nevus …

Persistent Cloaca And Caudal Duplication In A Monovular Twin, A Rare Case Report, N. Cohen, M. N. Ahmed, R. Goldfischer, N. Zaghloul

Journal Articles

© 2019 Introduction: A cloaca occurs when genitourinary tract and bowel converge into a common channel. We report a case of partial caudal duplication, persistent cloaca and vestigial appendage in a monovular female twin infant. Presentation of case: This is a monochorinonic-diamniotic twin born at 36 weeks with apgars of 9/9. She had a duplicated labia with two clitorises, and a partially formed accessory foot with 2 toes protruding from the right gluteal region. There was anal atresia and a punctate urethral opening in the right genitalia through which she voided spontaneously. X-ray of the accessory foot had rudimentary metatarsals …

Quantitative Human Immunodeficiency Virus (Hiv)-1 Antibodies Correlate With Plasma Hiv-1 Rna And Cell-Associated Dna Levels In Children On Antiretroviral Therapy, M. Mcmanus, J. Henderson, A. Gautam, R. Brody, E. R. Weiss, D. Persaud, E. Mick, K. Luzuriaga, V. Bonagura, I. Febo, +22 Additional Authors

Journal Articles

No abstract provided.

Ulcerative Colitis Mucosal Transcriptomes Reveal Mitochondriopathy And Personalized Mechanisms Underlying Disease Severity And Treatment Response, Y. Haberman, R. Karns, P. J. Dexheimer, M. Schirmer, J. Somekh, I. Jurickova, T. Braun, E. Novak, J. Markowitz, L. A. Denson, +32 Additional Authors

Journal Articles

© 2019, The Author(s). Molecular mechanisms driving disease course and response to therapy in ulcerative colitis (UC) are not well understood. Here, we use RNAseq to define pre-treatment rectal gene expression, and fecal microbiota profiles, in 206 pediatric UC patients receiving standardised therapy. We validate our key findings in adult and paediatric UC cohorts of 408 participants. We observe a marked suppression of mitochondrial genes and function across cohorts in active UC, and that increasing disease severity is notable for enrichment of adenoma/adenocarcinoma and innate immune genes. A subset of severity genes improves prediction of corticosteroid-induced remission in the discovery …

Homozygous Nlrp1 Gain-Of-Function Mutation In Siblings With A Syndromic Form Of Recurrent Respiratory Papillomatosis, S. B. Drutman, F. Haerynck, F. L. Zhong, D. Hum, N. J. Hernandez, S. Belkaya, F. Rapaport, S. J. De Jong, V. R. Bonagura, J. Laurent-Casanova, +13 Additional Authors

Journal Articles

© 2019 National Academy of Sciences. All rights reserved. Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. Two common human papillomaviruses (HPVs), HPV-6 and -11, are implicated in most cases, but it is still not understood why only a small proportion of children develop JRRP following exposure to these common viruses. We report 2 siblings with a syndromic form of JRRP associated with mild dermatologic abnormalities. Whole-exome sequencing of the patients revealed a private homozygous mutation in NLRP1, encoding Nucleotide-Binding Domain Leucine-Rich Repeat Family Pyrin …

Advisory Committee On Immunization Practices Recommended Immunization Schedule For Children And Adolescents Aged 18 Years Or Younger - United States, 2019, C. L. Robinson, H. Bernstein, J. R. Romero, P. Szilagyi

Journal Articles

No abstract provided.

Cancer Care Annual Report 2018-2019, Children's Mercy Hospital

Cancer Center Annual Reports

Annual report of cancer care and oncology services at the Children's Mercy Hospital, Kansas City MO, a pediatric medical center.

Implementing The Summer Food Service Program Within The Healthcare Setting, Laura M. Plencner, Margo Quiriconi, Sarah Sentmore, Molly Krager

Posters

The Summer Food Service Program was established to ensure that children continue to receive adequate nutrition while school is out. This poster describes how the program was implemented in the Children's Mercy Kansas City healthcare system from 2016-2018.

Liquid Mosquito Repellent Ingestion In Children, Saptharishi Lalgudi Ganesan, Mounika V. Reddy, Karthik Narayanan Ramalingam, Muralidharan Jayashree, Sunit C. Singhi, Karthi Nallasamy, Arun Bansal, Arun K. Baranwal

Data and Test Instruments

No abstract provided.

Electrographic Seizure Burden And Outcomes Following Pediatric Status Epilepticus, Saptharishi Lalgudi Ganesan, Cecil Hahn

Data and Test Instruments

No abstract provided.

Community-Acquired Methicillin-Resistant Staphylococcus Aureus Infections In Acutely Ill Children: A Retrospective Case-Control Study, Saptharishi Lalgudi Ganesan, Ankita Mehta, Md, Keshavmurthy Lakshmikantha, Muralidharan Jayashree, Vikas Gautam, Pallab Ray

Data and Test Instruments

No abstract provided.

Rigid Nail Fixation For Treatment Of Femur Fractures In Children Aged 6 To 12 Years: A Review, Brielle Payne Plost, David M. Bennett, Andrew W. Parsons, Matthew G. Wharton

UNM Orthopaedic Research Journal

Although femoral shaft fractures are common in children, treatment using rigid intramedullary nail fixation remains controversial owing to concerns of avascular necrosis (AVN) and disruption of growth of the proximal femur. We examined studies on AVN complications and proximal femur deformity after rigid nail fixation in children aged 6 to 12 years. Of the 13 studies included, nine had no incidents of AVN or clinically significant proximal femur deformity using a greater trochanter entry point. Four studies showed cases of AVN or proximal femoral deformity in patients treated with intramedullary nails through a starting point at or near the piriformis …

Graduate Medical Education Annual Report 2018-2019, Children's Mercy Hospital

GME Annual Reports

Annual report of the Children's Mercy Hospital Graduate Medical Education department, including pediatric residency, internal medicine/pediatrics residency, fellowship programs, medical students, continuing medical education, and library services.

Mapping Abnormal Subcortical Neurodevelopment In A Cohort Of Thai Children With Hiv, Benjamin Wade, Benjamin Wade, Benjamin Wade, Victor Valcour, Thanyawee Puthanakit, Arvin Saremi, Boris Gutman, Talia Nir, Christa Watson, Linda Aurpibul, Kosalaraksa, Pradthana Ounchanum, Stephen Kerr, Netsiri Dumrongpisutikul, Pannee Visrutaratna, Jiraporn Srinakarin, Monthana Pothisri, Katherine Narr, Paul Thompson, Jintanat Ananworanich, Robert Paul, Neda Jahanshad

Psychology Faculty Works

Alterations in subcortical brain structures have been reported in adults with HIV and, to a lesser extent, pediatric cohorts. The extent of longitudinal structural abnormalities in children with perinatal HIV infection (PaHIV) remains unclear. We modeled subcortical morphometry from whole brain structural magnetic resonance imaging (1.5 T) scans of 43 Thai children with PaHIV (baseline age = 11.09±2.36 years) and 50 HIV− children (11.26±2.80 years) using volumetric and surface-based shape analyses. The PaHIV sample were randomized to initiate combination antiretroviral treatment (cART) when CD4 counts were 15–24% (immediate: n = 22) or when CD4 < 15% (deferred: n = 21). Follow-up scans were acquired approximately 52 weeks after baseline. Volumetric and shape descriptors capturing local thickness and surface area dilation were defined for the bilateral accumbens, amygdala, putamen, pallidum, thalamus, caudate, and hippocampus. Regression models adjusting for clinical and demographic variables examined between and within group differences in morphometry associated with HIV. We assessed whether baseline CD4 count and cART status or timing associated with brain maturation within the PaHIV group. All models were adjusted for multiple comparisons using the false discovery rate. A pallidal subregion was significantly thinner in children with PaHIV. Regional thickness, surface area, and volume of the pallidum was associated with CD4 count in children with PaHIV. Longitudinal morphometry was not associated with HIV or cART status or timing, however, the trajectory of the left pallidum volume was positively associated with baseline CD4 count. Our findings corroborate reports in adult cohorts demonstrating a high predilection for HIV-mediated abnormalities in the basal ganglia, but suggest the effect of stable PaHIV infection on morphological aspects of brain development may be subtle.

Lights, Camera, Path Splitter: A New Approach For Truly Simultaneous Dual Optical Mapping Of The Heart With A Single Camera., Rafael Jaimes, Damon Mccullough, Bryan Siegel, Luther Swift, James Hiebert, Daniel Mclnerney, Nikki Gillum Posnack

Pediatrics Faculty Publications

Background: Optical mapping of transmembrane voltage and intracellular calcium is a powerful tool for investigating cardiac physiology and pathophysiology. However, simultaneous dual mapping of two fluorescent probes remains technically challenging. We introduce a novel, easy-to-use approach that requires a path splitter, single camera and excitation light to simultaneously acquire voltage and calcium signals from whole heart preparations, which can be applied to other physiological models - including neurons and isolated cardiomyocytes.

Results: Complementary probes were selected that could be excited with a single wavelength light source. Langendorff-perfused hearts (rat, swine) were stained and imaged using a sCMOS camera outfitted with …

Examining The Benefits Of Educating Caregivers About Tummy Time In The Acute Care Setting, Alexandra L. Turner

Occupational Therapy Doctorate Capstone Projects

Background: This project addressed providing parents with education on tummy time in the acute care setting. This is based on a gap in the literature on occupational therapy (OT) services in the acute care setting.

Purpose: The purpose of this research project was to conduct a pilot study to examine the benefit of educating parents of infants in the acute care setting on providing tummy time as a developmental education measure.

Theoretical Framework: The occupational therapy practice theory, of the Model of Human Occupation (MOHO) supports the holistic supporting of families, in their role as a parent, to meet the …

Twinkle-Associated Mitochondrial Dna Depletion., Salma Remtulla, Cam-Tu Emilie Nguyen, Chitra Prasad, Craig Campbell

Paediatrics Publications

BACKGROUND: Autosomal recessive mutations in the nuclear Twinkle (C10orf2) gene cause a mitochondrial DNA depletion syndrome (MDS) characterized by early onset hepatoencephalopathy.

METHODS: We report a severe, early onset encephalopathy and multisystem failure case caused by novel recessive Twinkle gene mutations. Patient clinical, laboratory, and pathological features are reported and Twinkle-associated MDS literature reviewed.

RESULTS: Typical presentation includes symptom onset before age six months, failure to thrive, psychomotor regression, epileptic encephalopathy, sensory axonal neuropathy, cholestatic liver dysfunction, and occasionally, renal tubulopathy, movement disorders, and ophthalmoplegia. Death is typical before age four years.

CONCLUSIONS: In the differential diagnosis of early onset …

The Loss Of Atrx Increases Susceptibility To Pancreatic Injury And Oncogenic Kras In Female But Not Male Mice., Claire C Young, Ryan M Baker, Christopher J Howlett, Todd Hryciw, Joshua E Herman, Douglas Higgs, Richard Gibbons, Howard Crawford, Arthur Brown, Christopher L Pin

Paediatrics Publications

Background

Pancreatic ductal adenocarcinoma (PDAC) is the third leading cause of cancer death in North America, accounting for >30,000 deaths annually. Although somatic activating mutations in KRAS appear in 97% of PDAC patients, additional factors are required to initiate PDAC. Because mutations in genes encoding chromatin remodelling proteins have been implicated in KRAS-mediated PDAC, we investigated whether loss of chromatin remodeler ɑ-thalassemia, mental-retardation, X-linked (ATRX) affects oncogenic KRAS’s ability to promote PDAC. ATRX affects DNA replication, repair, and gene expression and is implicated in other cancers including glioblastomas and pancreatic neuroendocrine tumors. The hypothesis was that deletion of Atrx …

Linked Mri Signatures Of The Brain's Acute And Persistent Response To Concussion In Female Varsity Rugby Players., Kathryn Y Manning, Alberto Llera, Gregory A Dekaban, Robert Bartha, Christy Barreira, Arthur Brown, Lisa Fischer, Tatiana Jevremovic, Kevin Blackney, Timothy J Doherty, Douglas D Fraser, Jeff Holmes, Christian F Beckmann, Ravi S Menon

Paediatrics Publications

Acute brain changes are expected after concussion, yet there is growing evidence of persistent abnormalities well beyond clinical recovery and clearance to return to play. Multiparametric MRI is a powerful approach to non-invasively study structure-function relationships in the brain, however it remains challenging to interpret the complex and heterogeneous cascade of brain changes that manifest after concussion. Emerging conjunctive, data-driven analysis approaches like linked independent component analysis can integrate structural and functional imaging data to produce linked components that describe the shared inter-subject variance across images. These linked components not only offer the potential of a more comprehensive understanding of …

Comprehensive Evaluation Of Right Heart Performance And Pulmonary Hemodynamics In Neonatal Pulmonary Hypertension: Evaluation Of Cardiopulmonary Performance In Neonatal Pulmonary Hypertension, Soume Bhattacharya, Shawn Sen, Philip T. Levy, Danielle R. Rios

Paediatrics Publications

Purpose of review: Pulmonary hypertension is characterized by an elevation of pulmonary artery pressures and prolonged exposure of the right ventricle to high afterload that collectively contribute to morbidity and mortality in both the term and preterm infants. This review summarizes the pathogenesis, etiologies, and hemodynamic profiles of the conditions that result in pulmonary hypertension in neonates. We explore the application of echocardiographic techniques for the assessment of right ventricular performance and pulmonary hemodynamics that enhance and guide the diagnosis and management strategies in neonates. Recent findings: Clinical assessments based on the determinants of mean pulmonary artery pressures (pulmonary vascular …

Surgical Technique For Developing A Rabbit Model Of Congenital Diaphragmatic Hernia And Tracheal Occlusion, M. Mudri, S. A. Smith, C. Vander Tuin, J. Davidson, T. R.H. Regnault, A. Bütter

Paediatrics Publications

The surgical model of congenital diaphragmatic hernia (CDH) has been utilized in exploring treatments and innovative therapies, such as tracheal occlusion (TO). The rabbit is an excellent surgical model compared to others due to lower cost, ease of care, short gestational period, and large litter size. This model is also ideal in studying lung hypoplasia of CDH because rabbit lung development is most similar to humans as alveolarization begins prior to birth and continues post-natally. However, the surgical technique in creating a rabbit model of CDH is quite difficult and information is lacking on how to establish this model. Therefore, …

Perceptions On Competence By Design In Urology, Peter Wang, Ernest Chan, Adam Forster, Jennifer Vergel De Dios, Alp Sener, Sumit Dave, Saad Chahine

Paediatrics Publications

Introduction: The Royal College of Physicians and Surgeons of Canada has begun implementing Competence by Design (CBD). However, it is unclear how much urology trainees and faculty know about CBD, their attitudes towards this change, and their willingness to embrace and participate in this new model of training. Methods: This cross-sectional study was conducted through an online survey, which was administered to all trainees and faculty at Canadian urology programs prior to the implementation of CBD. The final survey consisted of eight demographic questions, 17 five-point Likert items, one visual analog scale question, 11 multiple-choice questions, and two open-ended questions. …

Reply To: Calcium/Citrate Ratio And Risk Of Kidney Stone, Misan Lee, Carmen Inés Rodriguez Cuellar, Ravneet Nagra, Peter Zhan Tao Wang, Vipin Bhayana, Guido Filler

Paediatrics Publications

No abstract provided.

Does The Urinary Calcium/Citrate Ratio Add To The Diagnostic Workup Of Children At Risk Of Kidney Stones? A Cross-Sectional Study, Misan Lee, Carmen Inés Rodriguez Cuellar, Ravneet Nagra, Zhan Tao Peter Wang, Vipin Bhayana, Guido Filler

Paediatrics Publications

The purpose of the study was to evaluate urinary citrate/creatinine (U Ci /U Cr ) and urinary calcium/citrate (U Ca /U Ci ) ratios for distinguishing stone formers (SF) from non-stone formers (NSF) in an at-risk population. This was a retrospective study that included all pediatric patients who underwent urinary citrate testing from April 2017 to March 2018. The urinary levels of citrate, calcium, sodium, potassium, creatinine, oxalate, urate, pH, and specific gravity (SG) were measured in our clinical laboratory. Diagnosis of kidney stones was obtained through chart review. A total of 97 patients were included (46 NSF and 51 …

Maternal Undernourishment In Guinea Pigs Leads To Fetal Growth Restriction With Increased Hypoxic Cells And Oxidative Stress In The Brain., Yohei Maki, Karen Nygard, Robert R Hammond, Timothy Regnault, Bryan S Richardson

Paediatrics Publications

BACKGROUND: We determined whether maternal nutrient restriction (MNR) in guinea pigs leading to fetal growth restriction (FGR) impacts markers for brain hypoxia and oxidative stress.

METHODS: Guinea pigs were fed ad libitum (control) or 70% of the control diet before pregnancy, switching to 90% at mid-pregnancy (MNR). Near term, hypoxyprobe-1 (HP-1) was injected into pregnant sows. Fetuses were then necropsied and brain tissues were processed for HP-1 (hypoxia marker) and 4HNE, 8-OHdG, and 3-nitrotyrosine (oxidative stress markers) immunoreactivity (IR).

RESULTS: FGR-MNR fetal and brain weights were decreased 38 and 12%, respectively, with brain/fetal weights thereby increased 45% as a measure …

Children's Mercy Annual Report 2019, Children's Mercy Hospital

Children's Mercy Annual Reports

Annual report for The Children's Mercy Hospital in Kansas City MO, a pediatric medical center.

Opioid Agonist Therapy And Detoxification: Improving Outcomes For Fetuses Born To Addicted Mothers, Kao Lee

Theses and Graduate Projects

The use of opioids has increased significantly in the last decade. Concern for the undertreatment of pain emerged in the mid-1990s, prompting providers to treat pain as a fifth vital sign. The pharmaceutical industry marketed their products as having significantly less abuse potential than reality. Prescriptions for pain medications soared with prescription opioids leading the way. Prescription opioids became ubiquitous in medicine cabinets and reports of abuse rose. Casually administered, illicit sale, theft, and doctor shopping became more common as reports of overdose also rose. By 2010, the United States government was issuing strategies to combat the opioid crisis.

People …