Medicine and Health Sciences Commons^™

Exploring Pediatric Tele-Rheumatology Practices During Covid-19: A Survey Of The Prcoin Network., Y Ingrid Goh, Danielle R. Bullock, Janalee Taylor, Rajdeep Pooni, Tzielan C. Lee, Sheetal S. Vora, Cagri Yildirim-Toruner, Esi M. Morgan, Nancy Pan, Julia G. Harris, Andrew Warmin, Kendra Wiegand, Jon M. Burnham, Fatima Barbar-Smiley

Manuscripts, Articles, Book Chapters and Other Papers

Healthcare providers were rapidly forced to modify the way they practiced medicine during the coronavirus disease 2019 (COVID-19) pandemic. Many providers transitioned from seeing their patients in person to virtually using telemedicine platforms with limited training and experience using this medium. In pediatric rheumatology, this was further complicated as musculoskeletal exams typically require hands-on assessment of patients. The objective of this study was to examine the adoption of telemedicine into pediatric rheumatology practices, to assess its benefits and challenges, and to gather opinions on its continued use. A survey was sent to the lead representatives of each Pediatric Rheumatology Care …

Relationships Between Disaccharidase Deficiencies, Duodenal Inflammation And Symptom Profile In Children With Abdominal Pain., Jennifer Colombo, Chance S. Friesen, Uttam Garg, Craig A. Friesen, William San Pablo

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Abdominal pain has been associated with disaccharidase deficiencies. While relationships with individual symptoms have been assessed, relationships between disaccharidase deficiencies and symptom complexes or inflammation have not been evaluated in this group. The primary aims of the current study were to assess relationships between disaccharidase deficiency and symptoms or symptom complexes and duodenal inflammation, respectively. Patients with abdominal pain who underwent endoscopy with evaluation of disaccharidase activity levels were identified. After excluding all patients with inflammatory bowel disease, celiac disease, H. pylori, or gross endoscopic lesions, patients were evaluated for disaccharidase deficiency frequency. Disaccharidase were compared between patients with and …

Readiness To Change And Prospective Effects Of Weight Management Programs In Pediatric Nonalcoholic Fatty Liver Disease., Voytek Slowik, Heather Wasserkrug, Ryan T. Fischer, Mark Connelly, Amanda D. Deacy, Sarah Hampl, James F. Daniel

Manuscripts, Articles, Book Chapters and Other Papers

Non-alcoholic fatty liver disease (NAFLD) is an increasing problem in pediatrics with limited treatment options. We prospectively assessed outcomes in patients managed in a hepatology clinic (HC) alone vs. those managed in combination with a multidisciplinary weight management program (MWMP). We describe each group's readiness to change at the time of NAFLD diagnosis. Patients diagnosed with NAFLD were given a modified Stages of Change Readiness and Treatment Eagerness Scale (SOCRATES) at enrollment (T1) to assess readiness to change. They were then followed at 3-9 months (T2) and at 10-15 months (T3). Linear mixed models were used to evaluate changes in …

The Efficacy And Tolerability Of Auto-Stimulation-Vns In Children With Lennox-Gastaut Syndrome., Sherouk A. Abdelmoity, Ayman Abdelmoity, Sean M. Riordan, Christian Kaufman, Jean-Baptist Lepichon, Ahmed Abdelmoity

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: Lennox-Gastaut syndrome (LGS) is a severe drug-resistant epilepsy (DRE) of childhood. The Vagus Nerve Stimulator (VNS) is established as a safe and effective treatment for DRE. This study assesses efficacy and tolerability of the auto-stimulation VNS models in pediatric patients with LGS.

METHODS: This is a retrospective chart review of a cohort of pediatric patients (Age 1-18 years old) with LGS implanted with an auto-stimulation VNS model at a single level four pediatric epilepsy center. Patient responder's rate was measured as seizure reduction over baseline and improvements in five quality-of-life measures as reported by the patients and families. Efficacy …

Adolescent Access To Firearms-This Is Definitely Our Lane., Shayla Sullivant, M Denise Dowd

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Effect Of Crohn's Disease On Villous Length And Cyp3a4 Expression In The Pediatric Small Intestine., Carrie A. Vyhlidal, Brian D. Chapron, Atif Ahmed, Vivekanand Singh, Rebecca Casini, Valentina Shakhnovich

Manuscripts, Articles, Book Chapters and Other Papers

Changes in absorptive capacity and first-pass metabolism in the small intestine affect oral drug bioavailability. Characterization of such changes as a consequence of inflammation is important for developing physiologically-based pharmacokinetic (PBPK) models for inflammatory bowel disease. We sought to elucidate the impact of small intestinal Crohn's disease (CD) on villous length and CYP3A4 expression in children. Freshly frozen duodenal and terminal ileum (TI) biopsies from 107 children (1-19 years) with and without CD were evaluated for active inflammation. Villous length and CYP3A4 mRNA/protein expression were compared among regions of active and inactive inflammation in CD and controls. A twofold reduction …

Ikaneat: Protocol For A Randomized Controlled Trial Of Megestrol As A Component Of A Pediatric Tube Weaning Protocol., Sarah T. Edwards, Paul E. Hyman, Hayat Mousa, Amanda Bruce, Jose Cocjin, Kelsey Dean, Kandace Fleming, Rebecca Swinburne Romine, Ann M. Davis

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Although tube feeding routinely saves the lives of children who do not eat by mouth, chronic tube feeding can be a burden to patients, caregivers, and families. Very few randomized trials exist regarding the best methods for weaning children from their feeding tubes.

METHODS: The current paper describes a randomized controlled trial of an empirically supported outpatient treatment protocol for moving children from tube to oral eating called iKanEat. Specifically, we describe the methods of randomized double-blind, placebo-controlled trial which includes a 4-week course of megestrol, the only medication used in the iKanEat protocol, to determine whether the addition …

Sirolimus Therapy And Follow-Up In A Patient With Severe Congenital Hyperinsulinism Following Subtotal Pancreatectomy, Qiong Chen, Yongxing Chen, Xiaohong Wang, Haihua Yang, Yingxian Zhang, Xiaojing Liu, Yun Yan, Haiyan Wei

Manuscripts, Articles, Book Chapters and Other Papers

Congenital hyperinsulinism (CHI) is the most common cause of severe, persistent hypoglycemia in neonates and infants. If the patient does not respond to medical treatment the currently available treatment is subtotal pancreatectomy, but some patients still experience severe hypoglycemia after surgery. Sirolimus, a mammalian target of rapamycin inhibitor has recently been reported to be effective in the treatment of insulinoma and CHI patients. Here we report a patient with CHI who had prolonged hypoglycemia after subtotal pancreatectomy. The patient had a heterozygous mutation in ABCC8 but was unresponsive to an optimal dose of diazoxide (15 mg/ kg/day) and octreotide (30 …

Integrated Multidisciplinary Treatment For Pediatric Inflammatory Bowel Disease., Anava A. Wren, Michele H. Maddux

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Engaging Patients And Parents To Improve Mental Health Intervention For Youth With Rheumatological Disease., Oluwatunmise A. Fawole, Michelle V. Reed, Julia G. Harris, Aimee Hersh, Martha Rodriguez, Karen Onel, Erica Lawson, Tamar Rubinstein, Kaveh Ardalan, Esi Morgan, Anne Paul, Judy Barlin, R Paola Daly, Mitali Dave, Shannon Malloy, Shari Hume, Suzanne Schrandt, Laura Marrow, Angela Chapson, Donna Napoli, Michael Napoli, Miranda Moyer, Vincent Delgaizo, Ashley Danguecan, Emily Von Scheven, Andrea Knight, Carra Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Mental health disorders are common in youth with rheumatological disease yet optimal intervention strategies are understudied in this population. We examined patient and parent perspectives on mental health intervention for youth with rheumatological disease.

METHODS: We conducted a mixed methods cross-sectional study, via anonymous online survey, developed by researchers together with patient/parent partners, to quantitatively and qualitatively examine youth experiences with mental health services and resources in North America. Patients ages 14-24 years with juvenile idiopathic arthritis, juvenile dermatomyositis, or systemic lupus erythematous, and parents of patients ages 8-24 with these diseases were eligible (not required to participate in …

Racial Disparities In Necrotizing Enterocolitis., Alain Cuna, Venkatesh Sampath, Minesh Khashu

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Necrotizing enterocolitis (NEC) is a serious disease of the intestinal tract affecting 5-10% of pre-term infants with up to 50% mortality in those that require surgery. There is wide variation in the rates and outcomes of NEC by race and ethnicity, and the reasons for this disparity are poorly understood. In this article, we review the epidemiology and discuss possible explanations for racial and ethnic differences in NEC. Most of the current evidence investigating the role of race in NEC comes from North America and suggests that Hispanic ethnicity and non-Hispanic Black race are associated with higher risk of NEC …

Intestinal Stem Cell Development In The Neonatal Gut: Pathways Regulating Development And Relevance To Necrotizing Enterocolitis., Aparna Venkatraman, Wei Yu, Christopher R. Nitkin, Venkatesh Sampath

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The intestine is extremely dynamic and the epithelial cells that line the intestine get replaced every 3-5 days by highly proliferative intestinal stem cells (ISCs). The instructions for ISCs to self-renew or to differentiate come as cues from their surrounding microenvironment or their niche. A small number of evolutionarily conserved signaling pathways act as a critical regulator of the stem cells in the adult intestine, and these pathways are well characterized. However, the mechanisms, nutritional, and environmental signals that help establish the stem cell niche in the neonatal intestine are less studied. Deciphering the key signaling pathways that regulate the …

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 …

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 …

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

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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. …

Colostomy Takedown: Ischemic Complication Following Anorectal Malformation Surgery., Wendy Jo Svetanoff, Justin A. Sobrino Md, Grace S. Mitchell, Rebecca M. Rentea

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Introduction: Anorectal malformations (ARM) are complex disorders that often require staged reconstructions. We present a case and imaging findings of a child who developed issues following colostomy closure due to segmental colonic ischemia. Case Presentation. A 3-year-old female with Currarino syndrome presented with abdominal distention, blood-flecked stools, and prolonged cecostomy flush time. For her anorectal malformation, a colostomy was initially placed. A new colostomy was created at posterior sagittal anorectoplasty (PSARP) to allow the distal rectum to reach the anus without tension. Differentials for her presenting symptoms included a mislocation of the anus, stenosis at the anoplasty site, stricture …

Shear Stress Associated With Cardiopulmonary Bypass Induces Expression Of Inflammatory Cytokines And Necroptosis In Monocytes., Lan N. Tu, Lance Hsieh, Masaki Kajimoto, Kevin Charette, Nataliya Kibiryeva, Adriana Forero, Sarah Hampson, Jennifer A. Marshall, James O'Brien, Marta Scatena, Michael A. Portman, Ram Savan, Chris Benner, Alberto Aliseda, Muhammad Nuri, Douglas Bittel, Peter Pastuzsko, Vishal Nigam

Manuscripts, Articles, Book Chapters and Other Papers

Cardiopulmonary bypass (CPB) is required during most cardiac surgeries. CBP drives systemic inflammation and multiorgan dysfunction that is especially severe in neonatal patients. Limited understanding of molecular mechanisms underlying CPB-associated inflammation presents a significant barrier to improve clinical outcomes. To better understand these clinical issues, we performed mRNA sequencing on total circulating leukocytes from neonatal patients undergoing CPB. Our data identify myeloid cells, particularly monocytes, as the major cell type driving transcriptional responses to CPB. Furthermore, IL-8 and TNF-α were inflammatory cytokines robustly upregulated in leukocytes from both patients and piglets exposed to CPB. To delineate the molecular mechanism, we …

Thyrotoxic Periodic Paralysis In An Adolescent Male: A Case Report And Literature Review., Luke He, Veronica Lawrence, Wayne V. Moore, Yun Yan

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Thyrotoxic periodic paralysis (TPP) is rarely seen in children and adolescents. Clinical manifestations in children and adolescents may vary. It is important for clinicians to be aware of this rare and life-threatening condition.

Opportunities, Barriers, And Recommendations In Down Syndrome Research., James A. Hendrix, Angelika Amon, Leonard Abbeduto, Stamatis Agiovlasitis, Tarek Alsaied, Heather A. Anderson, Lisa J. Bain, Nicole Baumer, Anita Bhattacharyya, Dusan Bogunovic, Kelly N. Botteron, George Capone, Priya Chandan, Isabelle Chase, Brian Chicoine, Cécile Cieuta-Walti, Lara R. Deruisseau, Sophie Durand, Anna Esbensen, Juan Fortea, Sandra Giménez, Ann-Charlotte Granholm, Laura J. Hahn, Elizabeth Head, Hampus Hillerstrom, Lisa M. Jacola, Matthew P. Janicki, Joan M. Jasien, Angela R. Kamer, Raymond D. Kent, Bernard Khor, Jeanne B. Lawrence, Catherine Lemonnier, Amy Feldman Lewanda, William Mobley, Paul E. Moore, Linda Pollak Nelson, Nicolas M. Oreskovic, Ricardo S. Osorio, David Patterson, Sonja A. Rasmussen, Roger H. Reeves, Nancy Roizen, Stephanie Santoro, Stephanie L. Sherman, Nasreen Talib, Ignacio E. Tapia, Kyle M. Walsh, Steven F. Warren, A Nicole White, Guang William Wong, John S. Yi

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community.

OBJECTIVE: The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan.

METHODS: NDSS and LuMind IDSC assembled over 50 experts across …

Tisagenlecleucel Infusion In Patients With Relapsed/Refractory All And Concurrent Serious Infection., Erin Hall, Dwight E. Yin, Rakesh K. Goyal, Atif Ahmed, Grace S. Mitchell, Shawn D. St Peter, Terrie Flatt, Ibrahim A. Ahmed, Weijie Li, Richard J. Hendrickson, Keith August, Douglas Myers

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BACKGROUND: Tisagenlecleucel, an anti-CD19 chimeric antigen receptor T (CAR-T) cell therapy, has demonstrated durable efficacy and a manageable safety profile in pediatric and young adult patients with relapsed/refractory B-cell acute lymphoblastic leukemia (B-ALL) in the ELIANA pivotal trial and real-world experience. Experience from investigator-led studies prior to ELIANA suggests that infections and inflammatory conditions may exacerbate the severity of cytokine release syndrome (CRS) associated with CAR-T cell therapy, leading to extreme caution and strong restrictions for on-study and commercial infusion of tisagenlecleucel in patients with active infection. CRS intervention with interleukin (IL)-6 blockade and/or steroid therapy was introduced late in …

Retrospective Review Of Pharmacogenetic Testing At An Academic Children's Hospital., Timothy A. Roberts, Jennifer A. Wagner, Tracy L. Sandritter, Benjamin T. Black, Andrea Gaedigk, Stephani L. Stancil

Manuscripts, Articles, Book Chapters and Other Papers

There is limited evidence to support pharmacogenetic (PGx) testing in children. We conducted a retrospective review of PGx testing among 452 patients at an academic children's hospital to determine the potential utility of PGx in diseases of childhood and to identify targets for future pediatric pharmacogenetic research. An actionable gene-drug pair associated with the 28 genes tested (Clinical Pharmacogenetics Implementation Consortium (CPIC) level A or B, Pharmacogenomics Knowledge Base (PharmGKB) level 1A or B, or US Food and Drug Administration (FDA) recommendation and a PharmGKB level) was present in 98.7% of patients. We identified 203 actionable gene-drug-diagnosis groups based on …