Digital Commons Network^™

Prosthetic Temporomandibular Joint Reconstruction In A Cohort Of Adolescent Females With Juvenile Idiopathic Arthritis., Michael Lypka, Karina Shah, Jordan T. Jones

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Temporomandibular joint (TMJ) arthritis and involvement is commonly seen in Juvenile Idiopathic Arthritis (JIA). Therapy includes conservative measures, but also includes intraarticular corticosteroid injections (IASI) and systemic immunosuppressive therapy. Despite aggressive medical therapy, some patients develop arthritic changes and frank TMJ ankylosis that can result in persistent pain and limitation in range of motion (ROM). A surgical option is prosthetic TMJ replacement with concurrent correction of dentofacial deformities, which can be performed simultaneously. The objective of this study was to evaluate the outcomes of prosthetic TMJ replacement in a cohort of adolescent females with JIA and severe TMJ involvement. …

Cinacalcet Studies In Pediatric Subjects With Secondary Hyperparathyroidism Receiving Dialysis., Bradley A. Warady, Eric Ng, Laura Bloss, May Mo, Franz Schaefer, Justine Bacchetta

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Secondary hyperparathyroidism (sHPT), a complication of chronic kidney disease (CKD) characterized by persistently elevated parathyroid hormone (PTH), alterations in calcium-phosphorus homeostasis, and vitamin D metabolism, affects 50% of children receiving dialysis. A significant proportion of these children develop CKD-mineral and bone disorder (CKD-MBD), associated with an increased risk of fractures and vascular calcification. The standard of care for sHPT in children includes vitamin D sterols, calcium supplementation, and phosphate binders. Several agents are approved for sHPT treatment in adults undergoing dialysis, including vitamin D analogs and calcimimetics, with limited information on their safety and efficacy in children. The calcimimetic …

The Slc25a42 Transcript Is A Biomarker For Fetal Reprogramming In Response To Placental Insufficiency In Preterm Newborns Under 32 Weeks Gestation-A Pilot Study., Fu-Sheng Chou, Pei-Shan Wang

Manuscripts, Articles, Book Chapters and Other Papers

Introduction: Timing of medical delivery of preterm newborns exposed to placental insufficiency is largely determined by umbilical artery blood flow and maternal clinical manifestations. There is a lack of tools to properly assess fetal body response to placental insufficiency before or upon delivery. Yet, short- and long-term comorbidities associated with placental insufficiency and the consequential intrauterine growth restriction may be a result of fetal response following prolonged stress. This study aims to establish a procedure to investigate fetal/neonatal transcriptional response to placental insufficiency as part of an initiative to identify cost-effective biomarkers for assessing fetal response to placental insufficiency.

Methods: …

Interstage Home Monitoring For Infants With Single Ventricle Heart Disease: Education And Management: A Scientific Statement From The American Heart Association., Nancy A. Rudd, Nancy S. Ghanayem, Garick D. Hill, Linda M. Lambert, Kathleen A. Mussatto, Jo Ann Nieves, Sarah Robinson, Girish S. Shirali, Michelle M. Steltzer, Karen Uzark, Nancy A. Pike, American Heart Association Council On Cardiovascular And Stroke Nursing; Council On Lifelong Congenital Heart Disease And Heart Health In The Young; Council On Arteriosclerosis, Thrombosis And Vascular Biology; Council On Clinical Cardiology; And Council On Lifestyle And Cardiometabolic Health

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This scientific statement summarizes the current state of knowledge related to interstage home monitoring for infants with shunt-dependent single ventricle heart disease. Historically, the interstage period has been defined as the time of discharge from the initial palliative procedure to the time of second stage palliation. High mortality rates during the interstage period led to the implementation of in-home surveillance strategies to detect physiologic changes that may precede hemodynamic decompensation in interstage infants with single ventricle heart disease. Adoption of interstage home monitoring practices has been associated with significantly improved morbidity and mortality. This statement will review in-hospital readiness for …

Reducing Emotional Distress For Childhood Hypoglycemia In Parents (Redchip): Protocol For A Randomized Clinical Trial To Test A Video-Based Telehealth Intervention., Susana R. Patton, Andrew Mcconville, Arwen M. Marker, Alexandra D. Monzon, Kimberly A A. Driscoll, Mark A. Clements

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Despite the introduction of new insulin analogs, insulin pumps, and continuous glucose monitoring (CGM), young children with type 1 diabetes mellitus (T1D) remain vulnerable to episodes of hypoglycemia because of their unpredictable eating and activity patterns and high degree of insulin sensitivity. Caregivers and young children living with T1D learn to fear hypoglycemia because it is uncomfortable, unpredictable, and dangerous. Up to 60% of caregivers of young children with T1D report moderate to severe levels of fear of hypoglycemia, and caregiver fear of hypoglycemia relates to lower quality of life for families and suboptimal child glycemic control. Yet, until …

Pediatric Sjs-Ten: Where Are We Now?, Michele Ramien, Jennifer Goldman

Manuscripts, Articles, Book Chapters and Other Papers

Stevens-Johnson syndrome and toxic epidermal necrolysis are rare severe blistering skin reactions triggered by medications or infections. Over the last 5 to 10 years, a number of important publications have advanced understanding of these diseases and their response to treatment. Importantly, a subset of patients with disease triggered by infection has been identified as having Mycoplasma pneumoniae-induced rash and mucositis, suggesting a reconsideration of the diagnostic paradigm. We present an update on pediatric Stevens-Johnson syndrome and toxic epidermal necrolysis in the broader context of cutaneous adverse drug reactions and focus on challenges and recent advances in diagnosis, management, and prevention.

Alport Syndrome Classification And Management., Bradley A. Warady, Rajiv Agarwal, Sripal Bangalore, Arlene Chapman, Adeera Levin, Peter Stenvinkel, Robert D. Toto, Glenn M. Chertow

Manuscripts, Articles, Book Chapters and Other Papers

Alport syndrome affects up to 60,000 people in the United States. The proposed reclassification of thin basement membrane nephropathy and some cases of focal segmental glomerulosclerosis as Alport syndrome could substantially increase the affected population. The reclassification scheme categorizes Alport syndrome as 3 distinct diseases of type IV collagen α3/4/5 based on a genetic evaluation: X-linked, autosomal, and digenic. This approach has the advantage of identifying patients at risk for progressive loss of kidney function. Furthermore, the shared molecular cause of Alport syndrome and thin basement membrane nephropathy arises from mutations in the COL4A3, COL4A4, and COL4A5 genes, …

Agreement Of Program Directors With Clinical Competency Committees For Fellow Entrustment., Richard Mink, Bruce E. Herman, Carol Carraccio, Tandy Aye, Jeanne M. Baffa, Patricia R. Chess, Jill J. Fussell, Cary G. Sauer, Diane E J Stafford, Pnina Weiss, Megan L. Curran, Christiane E L Dammann, Pamela C. High, Deborah Hsu, Jennifer C. Kesselheim, John D. Mahan, Kathleen A. Mcgann, Angela Myers, Sarah Pitts, David A. Turner, Alan Schwartz

Manuscripts, Articles, Book Chapters and Other Papers

Objectives: Fellowship program directors (FPD) and Clinical Competency Committees (CCCs) both assess fellow performance. We examined the association of entrustment levels determined by the FPD with those of the CCC for 6 common pediatric subspecialty entrustable professional activities (EPAs), hypothesizing there would be strong correlation and minimal bias between these raters.

Methods: The FPDs and CCCs separately assigned a level of supervision to each of their fellows for 6 common pediatric subspecialty EPAs. For each EPA, we determined the correlation between FPD and CCC assessments and calculated bias as CCC minus FPD values for when the FPD was or was …

Medium-Term Complications Associated With Coronary Artery Aneurysms After Kawasaki Disease: A Study From The International Kawasaki Disease Registry., Brian W. Mccrindle, Cedric Manlhiot, Jane W Newburger, Ashraf S. Harahsheh, Therese M. Giglia, Frederic Dallaire, Kevin Friedman, Tisiana Low, Kyle Runeckles, Mathew Mathew, Andrew S. Mackie, Nadine F. Choueiter, Pei-Ni Jone, Shelby Kutty, Anji T. Yetman, Geetha Raghuveer, Elfriede Pahl, Kambiz Norozi, Kimberly E Mchugh, Jennifer S. Li, Sarah D De Ferranti, Nagib Dahdah, International Kawasaki Disease Registry

Manuscripts, Articles, Book Chapters and Other Papers

Background Coronary artery aneurysms (CAAs) may occur after Kawasaki disease (KD) and lead to important morbidity and mortality. As CAA in patients with KD are rare and heterogeneous lesions, prognostication and risk stratification are difficult. We sought to derive the cumulative risk and associated factors for cardiovascular complications in patients with CAAs after KD. Methods and Results A 34-institution international registry of 1651 patients with KD who had CAAs (maximum CAA Z score ≥2.5) was used. Time-to-event analyses were performed using the Kaplan-Meier method and Cox proportional hazard models for risk factor analysis. In patients with CAA Z scores ≥10, …

Fosl1 Is A Novel Mediator Of Endotoxin/Lipopolysaccharide-Induced Pulmonary Angiogenic Signaling., Christopher R. Nitkin, Sheng Xia, Heather Menden, Wei Yu, Min Xiong, Daniel P. Heruth, Shui Qing Ye, Venkatesh Sampath

Manuscripts, Articles, Book Chapters and Other Papers

Systemic sepsis is a known risk factor for bronchopulmonary dysplasia (BPD) in premature infants, a disease characterized by dysregulated angiogenesis and impaired vascular and alveolar development. We have previoulsy reported that systemic endotoxin dysregulates pulmonary angiogenesis resulting in alveolar simplification mimicking BPD in neonatal mice, but the underlying mechanisms remain unclear. We undertook an unbiased discovery approach to identify novel signaling pathways programming sepsis-induced deviant lung angiogenesis. Pulmonary endothelial cells (EC) were isolated for RNA-Seq from newborn C57BL/6 mice treated with intraperitoneal lipopolysaccharide (LPS) to mimic systemic sepsis. LPS significantly differentially-regulated 269 genes after 6 h, and 1,934 genes after …

Ewing Sarcoma Family Of Tumors-Derived Small Extracellular Vesicle Proteomics Identify Potential Clinical Biomarkers., Glenson Samuel, Jennifer Crow, Jon B. Klein, Michael L. Merchant, Emily Nissen, Devin C. Koestler, Kris Laurence, Xiaobo Liang, Kathleen Neville, Vincent S. Staggs, Atif Ahmed, Safinur Atay, Andrew K. Godwin

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: Ewing Sarcoma Family of Tumors (ESFT), the second most common pediatric osseous malignancy, are characterized by the pathognomonic chromosomal EWS-ETS translocation. Outside of tumor biopsy, no clinically relevant ESFT biomarkers exist. Additionally, tumor burden assessment at diagnosis, monitoring of disease responsiveness to therapy, and detection of disease recurrence are limited to radiographic imaging. To identify new, clinically relevant biomarkers we evaluated the proteome of a subset of ESFT-derived small extracellular vesicles (sEVs).

Materials and methods: We performed the first high quality proteomic study of ESFT-derived sEVs from 5 ESFT cell lines representing the most common EWS-ETS fusion types and …

De Novo Variants Of Nr4a2 Are Associated With Neurodevelopmental Disorder And Epilepsy., Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah Green, Koen Van Gassen, Tracy Brandt, Rhonda E. Schnur, Francisca Millan, Yue Si, Volker Mall, Juliane Winkelmann, Ralitza H. Gavrilova, Eric W. Klee, Kendra Engleman, Nicole P. Safina, Rachel Slaugh, Emily M. Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N. Misra, G Bradley Schaefer, Shelley Towner, Eva H. Brilstra, Bobby P C Koeleman

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene.

METHODS: Variants were identified and de novo origins were confirmed through trio exome sequencing in all but one patient. Targeted RNA sequencing was performed for one variant to confirm its splicing effect. Independent discoveries were shared through GeneMatcher.

RESULTS: Missense and loss-of-function variants in NR4A2 were identified in patients from eight unrelated families. One patient carried a larger deletion including adjacent genes. The cases presented with developmental delay, hypotonia (six cases), and epilepsy (six cases). De novo status was …

Capturing Functional Epigenomes For Insight Into Metabolic Diseases., Fiona Allum, Elin Grundberg

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Metabolic diseases such as obesity are known to be driven by both environmental and genetic factors. Although genome-wide association studies of common variants and their impact on complex traits have provided some biological insight into disease etiology, identified genetic variants have been found to contribute only a small proportion to disease heritability, and to map mainly to non-coding regions of the genome. To link variants to function, association studies of cellular traits, such as epigenetic marks, in disease-relevant tissues are commonly applied.

SCOPE OF THE REVIEW: We review large-scale efforts to generate genome-wide maps of coordinated epigenetic marks and …

Consensus Guidelines For Management Of Hyperammonaemia In Paediatric Patients Receiving Continuous Kidney Replacement Therapy., Rupesh Raina, Jirair K. Bedoyan, Uta Lichter-Konecki, Philippe Jouvet, Stefano Picca, Nicholas Ah Mew, Marcel C. Machado, Ronith Chakraborty, Meghana Vemuganti, Manpreet K. Grewal, Timothy Bunchman, Sidharth Kumar Sethi, Vinod Krishnappa, Mignon Mcculloch, Khalid Alhasan, Arvind Bagga, Rajit K. Basu, Franz Schaefer, Guido Filler, Bradley A. Warady

Manuscripts, Articles, Book Chapters and Other Papers

Hyperammonaemia in children can lead to grave consequences in the form of cerebral oedema, severe neurological impairment and even death. In infants and children, common causes of hyperammonaemia include urea cycle disorders or organic acidaemias. Few studies have assessed the role of extracorporeal therapies in the management of hyperammonaemia in neonates and children. Moreover, consensus guidelines are lacking for the use of non-kidney replacement therapy (NKRT) and kidney replacement therapies (KRTs, including peritoneal dialysis, continuous KRT, haemodialysis and hybrid therapy) to manage hyperammonaemia in neonates and children. Prompt treatment with KRT and/or NKRT, the choice of which depends on the …

Dual X-Ray Absorptiometry Has Limited Utility In Detecting Bone Pathology In Children With Hypophosphatasia: A Pooled Post Hoc Analysis Of Asfotase Alfa Clinical Trial Data., Jill H. Simmons, Eric T. Rush, Anna Petryk, Shanggen Zhou, Gabriel Á. Martos-Moreno

Manuscripts, Articles, Book Chapters and Other Papers

Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset hypophosphatasia (HPP), a rare, inherited, systemic disease causing impaired skeletal mineralization, short stature, and reduced physical function in children. The role of dual X-ray absorptiometry (DXA) in the assessment of children with HPP has been insufficiently explored. This post hoc analysis included pooled DXA data from 2 open-label, multicenter studies in 19 children with HPP. The study population was aged ≥5 to≤6.6 years at enrollment (male: 79%; median age at enrollment: 10.4 y [range: 5.9-16.7]; treatment duration: 6.3 y [range: 0.1-6.6]. Baseline height Z-scores indicated short …

The Relationship Between Mucosal Inflammatory Cells, Specific Symptoms, And Psychological Functioning In Youth With Irritable Bowel Syndrome., Meenal Singh, Vivekanand Singh, Jennifer Verrill Schurman, Jennifer Colombo, Craig A. Friesen

Manuscripts, Articles, Book Chapters and Other Papers

Both mucosal inflammation and psychologic dysfunction have been implicated in irritable bowel syndrome (IBS). While some relationships between inflammation (mast cells and eosinophils) and depression have been reported in adults with IBS, relationships between inflammation and psychologic function have not been studied in children and adolescents. The aims of the current study were to: (1) assess densities of colonic mast cells, eosinophils, and TH17 cells in youth with IBS; and, (2) explore relationships between these cells and specific IBS symptoms and psychologic functioning. Utilizing previously obtained biopsies from the descending and rectosigmoid colons, densities were determined for mast cells, eosinophils, …

Barriers To Maternal Retention In Hiv Care In Ghana: Key Differences During Pregnancy And The Postpartum Period., Kwame S. Sakyi, Margaret Y. Lartey, Caitlin E. Kennedy, Julie A. Dension, Luke C. Mullany, Prince G. Owusu, Emma Sacks, Emily A. Hurley, Pamela J. Surkan

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Maternal retention in HIV care is lower for women in the postpartum period than during pregnancy, but the reasons are poorly understood. We examined key differences in barriers to retention in HIV care during and after pregnancy.

METHODS: We conducted semi-structured, in-depth interviews with 30 postpartum women living with HIV. Participants were recruited from two tertiary facilities implementing Option B+ for prevention of mother-to-child HIV transmission in Accra, Ghana. We collected data from mothers who had disengaged from HIV care and those who were still engaged in care. The interviews were analyzed using principles adapted from grounded theory.

RESULTS: …

The Spectrum And Severity Of Bleeding In Adolescents With Low Von Willebrand Factor-Associated Heavy Menstrual Bleeding., Lakshmi Srivaths, Charles G. Minard, Sarah H. O'Brien, Allison P Wheeler, Eric Mullins, Mukta Sharma, Robert Sidonio, Shilpa Jain, Ayesha Zia, Margaret V. Ragni, Roshni Kulkarni, Jennifer E. Dietrich, Peter A. Kouides

Manuscripts, Articles, Book Chapters and Other Papers

Low von Willebrand factor (VWF) in adults is associated with significant bleeding, most notably heavy menstrual bleeding (HMB) and postpartum hemorrhage, although this has not been characterized in adolescents. The objectives of this analysis of a multicenter single arm observational cohort study in adolescents with low VWF-associated HMB were to describe the bleeding phenotype, HMB severity, and related complications. Eligibility criteria included postmenarchal females(Pictorial Blood Assessment Chart [PBAC] score >100) and low VWF (2 values of VWF activity ≥30 and ≤50 IU/dL). Patients diagnosed with other bleeding disorders were ineligible. Clinical phenotype data, including PBAC and Bleeding Assessment Tool (BAT) …

Assessment And Treatment Of Down Syndrome-Associated Arthritis: A Survey Of Pediatric Rheumatologists., Anna Nicek, Nasreen Talib, Daniel Lovell, Chelsey Smith, Mara L. Becker, Jordan T. Jones

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Background: Inflammatory arthritis in children with Down syndrome (DS) was first described in 1984 and is now termed Down syndrome-associated arthritis (DA). Studies have shown that DA is under-recognized with a 19-month average delay in diagnosis. Additionally, most patients present with polyarticular, rheumatoid factor (RF) and anti-nuclear antibody (ANA) negative disease. Current therapies for juvenile idiopathic arthritis (JIA) have been used, but appear to be poorly tolerated, more toxic and less effective in patients with DA. There is currently no standardized approach to the assessment or management of DA. The objective of this study was to describe provider perspectives toward …

Polyspike Ictal-Onset Absence Seizures In A Pediatric Patient With Down Syndrome., Sherouk A. Abdelmoity, Mohammed Ilyas

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Polyspike ictal-onset absence seizure has been reported in adult patients with genetic generalized epilepsy but is a novel pattern in the pediatric population. Absence seizures are usually associated with generalized spike-and-wave on EEG. However, we present the case of a 10-year-old girl with Down syndrome and developmental delays who presented with atypical absence seizure associated with an unusual electroencephalographic (EEG) pattern of polyspike ictal-onset. Recognition of this ictal pattern in the pediatric population, as previously reported in adult populations, is important as it can have therapeutic and prognostic implications.

Medicine And Media: The Ranitidine Debate., Jennifer A. Wagner, Jennifer Colombo

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Ranitidine has been the topic of recent media reports. Current findings, confirmed by the US Food and Drug Administration, indicate that some ranitidine products contain a substance that may be carcinogenic. Providers and patients require additional information on the risks of continuing therapy vs. the benefits of the medication. This article comments on what is currently known about the evolving situation of elevated N-nitrosodimethylamine levels in ranitidine and the limits of the existing information to assess best practices.

Mealtime Insulin Bolus Score Increases Prior To Clinic Visits In Youth With Type 1 Diabetes., Andrew Mcconville, Amy E. Noser, Mark A. Clements, Susana R. Patton

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INTRODUCTION: Multiple studies confirm the occurrence of 'white coat adherence' (WCA), a term describing an increase in engagement with self-care tasks just prior to a scheduled clinic appointment, across cohorts with multiple chronic conditions. In youth with type 1 diabetes (T1D), research also shows an increase in self-monitoring blood glucose frequency ahead of youths' clinic visits. While studies show preliminary evidence for the occurrence of WCA in youth with T1D, no study has examined the effect of WCA and mealtime insulin dosing behaviors in youth with T1D. The frequency of mealtime insulin bolusing score (BOLUS) is an objective measure of …

Igf1r Immunohistochemistry In Ewing's Sarcoma As Predictor Of Response To Targeted Therapy., Elizabeth Gonzalez, Marilyn Bui, Atif Ahmed

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Objectives: Ewing's sarcoma is an aggressive malignancy of bone and soft tissue in children and young adults. Despite advances in modern therapy, metastasis can occur and results in high mortality. The objective of this study was to identify whether the signaling transduction proteins, insulin growth factor receptor (IGF1R) and S6 kinase (S6K), can predict poor prognosis in Ewing's sarcoma.

Methods: After the Institutional Research Board approval, immunohistochemical experiments on tissue microarray slides containing 32 archived Ewing's sarcoma tumor samples were performed with antibodies against IGF1Rb and p-S6K. Immunohistochemical staining results were correlated with patients' clinical data including clinical stage and …

Building A Contextually-Relevant Understanding Of Resilience Among African American Youth Exposed To Community Violence., Briana Woods-Jaeger, Emily Siedlik, Amber Adams, Kaitlin Piper, Paige O'Connor, Jannette Berkley-Patton

Manuscripts, Articles, Book Chapters and Other Papers

Studies consistently demonstrate that African American youth experience disproportionate levels of community violence, which is associated with negative health and well-being outcomes among these youth. The frequency and severity of community violence exposure is a unique challenge for these youth and requires tailored approaches to promote resilience after community violence exposure. However, limited research exists that operationalizes resilience after community violence based on the unique context and lived experience of African American youth. Developing a more contextually relevant understanding of resilience is critical to reducing health inequities experienced by African American youth and promoting their well-being. Five focus groups were …

Igf1r Immunohistochemistry In Ewing's Sarcoma As Predictor Of Response To Targeted Therapy., Elizabeth Gonzalez, Marilyn Bui, Atif Ahmed

Manuscripts, Articles, Book Chapters and Other Papers

Objectives: Ewing's sarcoma is an aggressive malignancy of bone and soft tissue in children and young adults. Despite advances in modern therapy, metastasis can occur and results in high mortality. The objective of this study was to identify whether the signaling transduction proteins, insulin growth factor receptor (IGF1R) and S6 kinase (S6K), can predict poor prognosis in Ewing's sarcoma.

Methods: After the Institutional Research Board approval, immunohistochemical experiments on tissue microarray slides containing 32 archived Ewing's sarcoma tumor samples were performed with antibodies against IGF1Rb and p-S6K. Immunohistochemical staining results were correlated with patients' clinical data including clinical stage and …

Bortezomib With Standard Chemotherapy For Children With Acute Myeloid Leukemia Does Not Improve Treatment Outcomes: A Report From The Children's Oncology Group., Richard Aplenc, Soheil Meshinchi, Lillian Sung, Todd Alonzo, John Choi, Brian Fisher, Robert Gerbing, Betsy Hirsch, Terzah Horton, Samir Kahwash, John Levine, Michael Loken, Lisa Brodersen, Jessica Pollard, Susana Raimondi, Edward Anders Kolb, A S. Gamis

Manuscripts, Articles, Book Chapters and Other Papers

New therapeutic strategies are needed for pediatric acute myeloid leukemia (AML) to reduce disease recurrence and treatment-related morbidity. The Children's Oncology Group Phase III AAML1031 trial tested whether the addition of bortezomib to standard chemotherapy improves survival in pediatric patients with newly diagnosed AML. AAML1031 randomized patients younger than 30 years of age with de novo AML to standard treatment with or without bortezomib. All patients received the identical chemotherapy backbone with either four intensive chemotherapy courses or three courses followed by allogeneic hematopoietic stem cell transplantation for high-risk patients. For those randomized to the intervention arm, bortezomib 1.3 mg/m2 …

Feasibility And Acceptability Of A Culturally- And Linguistically-Adapted Smoking Cessation Text Messaging Intervention For Latino Smokers., Francisco Cartujano-Barrera, Lisa Sanderson Cox, Evelyn Arana-Chicas, Mariana Ramírez, Jaime Perales-Puchalt, Pamela Valera, Francisco J. Díaz, Delwyn Catley, Edward F. Ellerbeck, Ana Paula Cupertino

Manuscripts, Articles, Book Chapters and Other Papers

Objective: Assess the feasibility and acceptability of a culturally- and linguistically-adapted smoking cessation text messaging intervention for Latino smokers. Methods: Using a community-based strategy, 50 Latino smokers were recruited to participate in a smoking cessation pilot study. Participants received a 12-week text messaging intervention and were offered Nicotine Replacement Therapy (NRT) at no cost. We assessed biochemically verified abstinence at 12 weeks, text messaging interactivity with the program, NRT utilization, self-efficacy, therapeutic alliance, and satisfaction. Results: Participants were 44.8 years old on average (SD 9.80), and they were primarily male (66%) and had no health insurance (78%). Most of the …

Host Immune Response To Enterovirus And Parechovirus Systemic Infections In Children., Anjana Sasidharan, Wail M. Hassan, Christopher J. Harrison, Ferdaus Hassan, Rangaraj Selvarangan

Manuscripts, Articles, Book Chapters and Other Papers

Background: Enterovirus (EV) and parechovirus type A3 (PeV-A3) cause infections ranging from asymptomatic to life-threatening. Host immune responses in children, particularly innate responses to PeV-A3, remain largely unknown. The aim of this study was to determine aspects of the cytokine/chemokine responses to EV and PeV-A3 in cerebrospinal fluid (CSF) and plasma obtained from children with systemic/central nervous system infection.

Methods: A total of 74 salvaged CSF samples (27 with EV, 23 with PeV-A3, and 24 with neither EV nor PeV-A3) and 35 paired blood samples (10 with EV, 14 with PeV-A3, and 11 with neither) were studied. Concentrations of cytokines …

The Promotion Of Physical Activity For The Prevention Of Alzheimer's Disease In Adults With Down Syndrome: Rationale And Design For A 12 Month Randomized Trial., Lauren T. Ptomey, Amanda N. Szabo-Reed, Laura E. Martin, Matthew S. Mayo, Richard A. Washburn, Anna M. Gorczyca, Rebecca J. Lepping, Phill Lee, Daniel Forsha, Joseph R. Sherman, Jessica C. Danon, Joseph E. Donnelly

Manuscripts, Articles, Book Chapters and Other Papers

Nearly all individuals with Down Syndrome (DS) display pathology associated with Alzheimer's disease (AD) beginning as early as age 30. Previous research in typically developed adults suggests that increased moderate-to-vigorous physical activity (MVPA) may improve cognitive function and protect against age-related structural and functional changes in the brain; however, the potential impact of increased MVPA on the development of AD in adults with DS has not been evaluated. Despite the potential positive impact of MVPA on cognition and AD risk, participation in MVPA among young adults with DS is low. The limited research evaluating strategies for increasing MVPA in adults …

Failure To Thrive - An Overlooked Manifestation Of Kmt2b-Related Dystonia: A Case Presentation., Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose N. Gelineau-Morel, Shimul Chowdhury, Rady Children’S Institute For Genomic Medicine Investigators, Jennifer Friedman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene.

CASE PRESENTATION: We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the …