Open Access. Powered by Scholars. Published by Universities.®

Medical Specialties Commons

Open Access. Powered by Scholars. Published by Universities.®

Manuscripts, Articles, Book Chapters and Other Papers

Discipline
Keyword
Publication Year

Articles 661 - 690 of 1314

Full-Text Articles in Medical Specialties

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 Feb 2021

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 …


Integrated Multidisciplinary Treatment For Pediatric Inflammatory Bowel Disease., Anava A. Wren, Michele H. Maddux Feb 2021

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

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.


Racial Disparities In Necrotizing Enterocolitis., Alain Cuna, Venkatesh Sampath, Minesh Khashu Feb 2021

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

Manuscripts, Articles, Book Chapters and Other Papers

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 …


Unilateral Nephrectomy Stimulates Erk And Is Associated With Enhanced Na Transport., Robert Repetti, Nomrota Majumder, Karin Carneiro De Oliveira, Jennifer Meth, Tenzin Yangchen, Mukut Sharma, Tarak Srivastava, Rajeev Rohatgi Feb 2021

Unilateral Nephrectomy Stimulates Erk And Is Associated With Enhanced Na Transport., Robert Repetti, Nomrota Majumder, Karin Carneiro De Oliveira, Jennifer Meth, Tenzin Yangchen, Mukut Sharma, Tarak Srivastava, Rajeev Rohatgi

Manuscripts, Articles, Book Chapters and Other Papers

Nephron loss initiates compensatory hemodynamic and cellular effects on the remaining nephrons. Increases in single nephron glomerular filtration rate and tubular flow rate exert higher fluid shear stress (FSS) on tubules. In principal cell (PC) culture models FSS induces ERK, and ERK is implicated in the regulation of transepithelial sodium (Na) transport, as well as, proliferation. Thus, we hypothesize that high tubular flow and FSS mediate ERK activation in the cortical collecting duct (CCD) of solitary kidney which regulates amiloride sensitive Na transport and affects CCD cell number. Immunoblotting of whole kidney protein lysate was performed to determine phospho-ERK (pERK) …


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 Feb 2021

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

Manuscripts, Articles, Book Chapters and Other Papers

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 Jan 2021

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 …


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 Jan 2021

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

Manuscripts, Articles, Book Chapters and Other Papers

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. …


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 Jan 2021

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 …


Colostomy Takedown: Ischemic Complication Following Anorectal Malformation Surgery., Wendy Jo Svetanoff, Justin A. Sobrino Md, Grace S. Mitchell, Rebecca M. Rentea Jan 2021

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

Manuscripts, Articles, Book Chapters and Other Papers

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 Jan 2021

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 …


Thymectomy, Bryan Bennett, Rebecca M. Rentea Jan 2021

Thymectomy, Bryan Bennett, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Excerpt

Thymectomy is the resection of the thymus gland. This anterior mediastinal organ can enlarge as in myasthenia gravis and thymoma and harbor malignant cells such as in thymic carcinoma or neuroendocrine tumors. The first thymectomies were performed incidentally in conjunction with thyroidectomies for Grave disease by Garre and Sauerbruch, but it was not until Blalock and colleagues that multiple series were performed with adequate results.

This also included patients with myasthenia gravis but without thymomas. The gold standard approach for thymectomy is a median sternotomy or transsternal approach, but this has evolved to less invasive techniques such as upper …


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 Jan 2021

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

Manuscripts, Articles, Book Chapters and Other Papers

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 …


Melanotic Neuroectodermal Tumor Of Infancy, Mohammad H. Almomani, Rebecca M. Rentea Jan 2021

Melanotic Neuroectodermal Tumor Of Infancy, Mohammad H. Almomani, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Melanotic neuroectodermal tumor of infancy (MNTI) is a rapidly growing benign tumor that arises from the neural crest. It typically occurs in infants in the head and neck region. It was described for the first time in 1918 by Krompecher, and since the origin was unknown, it was described as congenital melanocarcinoma. Until 1966, this tumor was characterized by variable names (e.g., retinal anlage tumor, pigmented congenital epulis, melanotic progonoma, pigmented teratoma, atypical melanoblastoma, etc.). However, Borello and Gorlin found that the tumor produces vanillylmandelic acid (VMA), which is produced by other types of tumors that arise from the neural …


Posterior Urethral Valve, George Bingham, Rebecca M. Rentea Jan 2021

Posterior Urethral Valve, George Bingham, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Posterior urethral valves are one of the most common causes of urinary tract obstruction in the pediatric population. They are obstructing membranous folds in the lumen of the posterior part of the urethra and are exclusive to male patients. Posterior urethral valves were first described by Morgagni in 1717 and then by Langenbeck in 1802, who reported valve-like folds in dissected cadavers. Posterior urethral valves can lead to a spectrum of pathology both inside and outside the urinary system. This includes acute retention, chronic kidney disease, and in severe cases, pulmonary hypoplasia secondary to low amniotic fluid levels.

Posterior urethral …


Simulation Training And Skill Assessment In Obstetrics And Gynecology, Thomas G. Weiss, Rebecca M. Rentea Jan 2021

Simulation Training And Skill Assessment In Obstetrics And Gynecology, Thomas G. Weiss, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Simulation is a valuable teaching tool that increases skill and knowledge acquisition in obstetric and gynecologic clinical scenarios. There are increasing options for simulation from animal and human cadaver, low-fidelity (inanimate simulator), and virtual reality simulation. The role of obstetric and gynecologic simulation also plays a key role in both outcomes-based as well as competency-based medical education.

Simulators were initially created for flight training for pilots in the 1920s, and the ability to reproduce clinical situations has been utilized in obstetric and gynecologic education. Simulations used in medical training were used in the 1960s with standardized patients and mannequins. Simulation …


Temporary Abdominal Closure Techniques, Laura R. Brown, Rebecca M. Rentea Jan 2021

Temporary Abdominal Closure Techniques, Laura R. Brown, Rebecca M. Rentea

Manuscripts, Articles, Book Chapters and Other Papers

Critically ill patients with underlying intraabdominal hypertension due to sepsis or injury are often managed with a damage control laparotomy (DCL), which involves the minimum intervention necessary to save the patient’s life. In order to save time, the abdomen may be left open to facilitate a second look to confirm the control of bleeding or sepsis before fascial closure. In the interim, some patients will develop bowel and abdominal wall edema with a high-volume resuscitation, especially if the crystalloid fluid is used primarily.

The many causes and management of intraabdominal hypertension as well as the indications for a damage control …


Study Design And Baseline Characteristics Of The Cardinal Trial: A Phase 3 Study Of Bardoxolone Methyl In Patients With Alport Syndrome., Glenn M. Chertow, Gerald B. Appel, Sharon Andreoli, Sripal Bangalore, Geoffrey A. Block, Arlene B. Chapman, Melanie P. Chin, Keisha L. Gibson, Angie Goldsberry, Kazumoto Iijima, Lesley A. Inker, Bertrand Knebelmann, Laura H. Mariani, Colin J. Meyer, Kandai Nozu, Megan O'Grady, Arnold L. Silva, Peter Stenvinkel, Roser Torra, Bradley A. Warady, Pablo E. Pergola Jan 2021

Study Design And Baseline Characteristics Of The Cardinal Trial: A Phase 3 Study Of Bardoxolone Methyl In Patients With Alport Syndrome., Glenn M. Chertow, Gerald B. Appel, Sharon Andreoli, Sripal Bangalore, Geoffrey A. Block, Arlene B. Chapman, Melanie P. Chin, Keisha L. Gibson, Angie Goldsberry, Kazumoto Iijima, Lesley A. Inker, Bertrand Knebelmann, Laura H. Mariani, Colin J. Meyer, Kandai Nozu, Megan O'Grady, Arnold L. Silva, Peter Stenvinkel, Roser Torra, Bradley A. Warady, Pablo E. Pergola

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Alport syndrome is a rare genetic disorder that affects as many as 60,000 persons in the USA and a total of 103,000 persons (10,000) in the European Union [1, 2]. It is the second most common inherited cause of kidney failure and is characterized by progressive loss of kidney function that often leads to end-stage kidney disease. Currently, there are no approved disease-specific agents for therapeutic use. We designed a phase 3 study (CARDINAL; NCT03019185) to evaluate the safety, tolerability, and efficacy of bardoxolone methyl in patients with Alport syndrome.

METHODS: The CARDINAL phase 3 study is an international, …


Thyrotoxic Periodic Paralysis In An Adolescent Male: A Case Report And Literature Review., Luke He, Veronica Lawrence, Wayne V. Moore, Yun Yan Jan 2021

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

Manuscripts, Articles, Book Chapters and Other Papers

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.


Recent Advances Of Integrative Bio-Omics Technologies To Improve Type 1 Diabetes (T1d) Care, Nisha Karwal, Megan Rodrigues, David D. Williams, Ryan Mcdonough, Diana Ferro Jan 2021

Recent Advances Of Integrative Bio-Omics Technologies To Improve Type 1 Diabetes (T1d) Care, Nisha Karwal, Megan Rodrigues, David D. Williams, Ryan Mcdonough, Diana Ferro

Manuscripts, Articles, Book Chapters and Other Papers

Type 1 diabetes (T1D) is a complex autoimmune disease that currently cannot be cured, only managed. Optimal treatment the of T1D symptoms, requires a multidisciplinary care team, including endocrinologists, educators, primary care providers, health care specialists, genetic counselors, and data scientists. This review summarizes how an integrative approach to T1D drives innovation and quality improvements in health care. Specifically, we highlight how “-omics” technologies facilitate the understanding of different aspects of the disease, including prevention, pathogenesis, diagnostics, and treatment. Furthermore, we explore how biological data can be combined with personal and electronic health records to tailor medical interventions to the …


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 Jan 2021

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 …


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 Jan 2021

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 …


A Quality Improvement Learning Collaborative For Human Papillomavirus Vaccination., Kristin Oliver, Kera Beskin, Laura Noonan, Amy Shah, Rebecca Perkins, Sharon Humiston Dec 2020

A Quality Improvement Learning Collaborative For Human Papillomavirus Vaccination., Kristin Oliver, Kera Beskin, Laura Noonan, Amy Shah, Rebecca Perkins, Sharon Humiston

Manuscripts, Articles, Book Chapters and Other Papers

Many published accounts have shown that quality improvement (QI) initiatives within medical practice settings can increase vaccination rates. Project ECHO is a telementoring platform that uses video conferencing technology to educate and support healthcare professionals through case-based learning and brief lectures. This manuscript explores the results of a learning collaborative focused on combining QI and Project ECHO to increase human papillomavirus (HPV) vaccination rates within pediatric practices.

Methods: The American Academy of Pediatrics (AAP) recruited 3 AAP chapters that then recruited individual pediatricians and their practices for participation. Participants responded to surveys regarding chapter and pediatrician experience and satisfaction. Impact …


Delayed Diagnosis Of Congenital Hypothyroidism In A Child With Trisomy 21 And Biotinidase Deficiency And Successful Use Of Levothyroxine Sodium Oral Solution., Matthew M. Feldt Dec 2020

Delayed Diagnosis Of Congenital Hypothyroidism In A Child With Trisomy 21 And Biotinidase Deficiency And Successful Use Of Levothyroxine Sodium Oral Solution., Matthew M. Feldt

Manuscripts, Articles, Book Chapters and Other Papers

Endocrine disorders are more common and appear earlier in people with trisomy 21 (T21) than in the general population, with thyroid dysfunction being the most common, including both congenital and acquired hypothyroidism. The treatment for biotinidase deficiency, a condition that occurs in approximately 1 : 110,000 people, is with biotin (vitamin B7) supplementation. However, biotin can interfere with endocrine laboratory assays and cause falsely low thyroid-stimulating hormone (TSH) and elevated free thyroxine (FT4) levels. This can interfere with the timely diagnosis and subsequent treatment of congenital hypothyroidism (CH). This case report describes an infant with partial biotinidase deficiency that was …


Effect Of Intrauterine Smoke Exposure On Microrna-15a Expression In Human Lung Development And Subsequent Asthma Risk., Sunita Sharma, Alvin T. Kho, Divya Chhabra, Kathleen Haley, Carrie A. Vyhlidal, R Gaedigk, J Steven Leeder, Kelan G. Tantisira, Benjamin Raby, Scott T. Weiss Dec 2020

Effect Of Intrauterine Smoke Exposure On Microrna-15a Expression In Human Lung Development And Subsequent Asthma Risk., Sunita Sharma, Alvin T. Kho, Divya Chhabra, Kathleen Haley, Carrie A. Vyhlidal, R Gaedigk, J Steven Leeder, Kelan G. Tantisira, Benjamin Raby, Scott T. Weiss

Manuscripts, Articles, Book Chapters and Other Papers

Background: In utero smoke (IUS) exposure is associated with asthma susceptibility.

Objective: We sought to test the hypothesis that changes in miRNA expression by IUS exposure during human lung development is associated with asthma susceptibility.

Methods: Gene expression was profiled from 53 IUS unexposed and 51 IUS exposed human fetal lung tissues. We tested for the differential expression of miRNAs across post-conception age and by IUS using linear models with covariate adjustment. We tested the IUS-associated miRNAs for association with their gene expression targets using pair-wise inverse correlation. Using our mouse model, we investigated the persistence of the IUS-associated miRNA …


Treatment-Induced Neuropathy Of Diabetes In Youth: Case Series Of A Heterogeneous And Challenging Complication., Eirene G. Alexandrou, Sarah D. Corathers, Amit Lahoti, Jacob M. Redel, Siobhan Tellez, Nana-Hawa Yayah Jones, Ahlee Kim Dec 2020

Treatment-Induced Neuropathy Of Diabetes In Youth: Case Series Of A Heterogeneous And Challenging Complication., Eirene G. Alexandrou, Sarah D. Corathers, Amit Lahoti, Jacob M. Redel, Siobhan Tellez, Nana-Hawa Yayah Jones, Ahlee Kim

Manuscripts, Articles, Book Chapters and Other Papers

Treatment-induced neuropathy of diabetes (TIND) is a small fiber neuropathy precipitated by rapid correction of hyperglycemia. Literature on TIND in pediatric diabetes is scarce. We present 7 cases of TIND in children and young adults, increasing awareness of this condition in pediatric diabetes and broadening the scope of published knowledge.


Pre-Transplant Marital Status And Hematopoietic Cell Transplantation Outcomes., J Tay, S Beattie, C Bredeson, R Brazauskas, N He, Ibrahim A. Ahmed, M Aljurf, M Askar, Y Atsuta, S Badawy, A Barata, A M Beitinjaneh, N S Bhatt, D Buchbinder, J Cerny, S Ciurea, A D'Souza, J Dalal, N Farhadfar, C O Freytes, S Ganguly, U Gergis, S Gerull, H M Lazarus, T Hahn, S Hong, Y Inamoto, N Khera, T Kindwall-Keller, R T Kamble, J M Knight, Y N Koleva, A Kumar, J Kwok, H S Murthy, R F Olsson, M Angel Diaz-Perez, D Rizzieri, S Seo, S Chhabra, H Schoemans, H C Schouten, A Steinberg, K M Sullivan, J Szer, D Szwajcer, M L Ulrickson, L F Verdonck, B Wirk, W A Wood, J A Yared, W Saber Dec 2020

Pre-Transplant Marital Status And Hematopoietic Cell Transplantation Outcomes., J Tay, S Beattie, C Bredeson, R Brazauskas, N He, Ibrahim A. Ahmed, M Aljurf, M Askar, Y Atsuta, S Badawy, A Barata, A M Beitinjaneh, N S Bhatt, D Buchbinder, J Cerny, S Ciurea, A D'Souza, J Dalal, N Farhadfar, C O Freytes, S Ganguly, U Gergis, S Gerull, H M Lazarus, T Hahn, S Hong, Y Inamoto, N Khera, T Kindwall-Keller, R T Kamble, J M Knight, Y N Koleva, A Kumar, J Kwok, H S Murthy, R F Olsson, M Angel Diaz-Perez, D Rizzieri, S Seo, S Chhabra, H Schoemans, H C Schouten, A Steinberg, K M Sullivan, J Szer, D Szwajcer, M L Ulrickson, L F Verdonck, B Wirk, W A Wood, J A Yared, W Saber

Manuscripts, Articles, Book Chapters and Other Papers

Background: Evidence about the impact of marital status before hematopoietic cell transplantation (hct) on outcomes after hct is conflicting.

Methods: We identified patients 40 years of age and older within the Center for International Blood and Marrow Transplant Research registry who underwent hct between January 2008 and December 2015. Marital status before hct was declared as one of: married or living with a partner, single (never married), separated or divorced, and widowed. We performed a multivariable analysis to determine the association of marital status with outcomes after hct.

Results: We identified 10,226 allogeneic and 5714 autologous hct cases with, respectively, …


Near Haploidization Is A Genomic Hallmark Which Defines A Molecular Subgroup Of Giant Cell Glioblastoma., Tiffany G. Baker, Jay Alden, Adrian M. Dubuc, Cynthia T. Welsh, Iya Znoyko, Linda D. Cooley, Midhat S. Farooqi, Stuart Schwartz, Yvonne Y. Li, Andrew D. Cherniack, Scott M. Lindhorst, Melissa Gener, Daynna J. Wolff, David M. Meredith Nov 2020

Near Haploidization Is A Genomic Hallmark Which Defines A Molecular Subgroup Of Giant Cell Glioblastoma., Tiffany G. Baker, Jay Alden, Adrian M. Dubuc, Cynthia T. Welsh, Iya Znoyko, Linda D. Cooley, Midhat S. Farooqi, Stuart Schwartz, Yvonne Y. Li, Andrew D. Cherniack, Scott M. Lindhorst, Melissa Gener, Daynna J. Wolff, David M. Meredith

Manuscripts, Articles, Book Chapters and Other Papers

Background: Giant cell glioblastoma (gcGBM) is a rare histologic subtype of glioblastoma characterized by numerous bizarre multinucleate giant cells and increased reticulin deposition. Compared with conventional isocitrate dehydrogenase (IDH)-wildtype glioblastomas, gcGBMs typically occur in younger patients and are generally associated with an improved prognosis. Although prior studies of gcGBMs have shown enrichment of genetic events, such as

Methods: Through a multi-institutional collaborative effort, we characterized 10 gcGBMs by chromosome studies, single nucleotide polymorphism microarray analysis, and targeted next-generation sequencing. These tumors were subsequently compared to the genomic and epigenomic profile of glioblastomas described in The Cancer Genome Atlas (TCGA) dataset. …


Severe Acute Respiratory Syndrome Coronavirus 2 Infections In Children: Multicenter Surveillance, United States, January-March 2020., Brian Rha, Joana Y. Lively, Janet A. Englund, Mary A. Staat, Geoffrey A. Weinberg, Rangaraj Selvarangan, Natasha B. Halasa, John V. Williams, Julie A. Boom, Leila C. Sahni, Marian G. Michaels, Laura S. Stewart, Christopher J. Harrison, Peter G. Szilagyi, Monica M. Mcneal, Eileen J. Klein, Bonnie Strelitz, Kirsten Lacombe, Elizabeth Schlaudecker, Mary Moffatt, Jennifer E. Schuster, Barbara A. Pahud, Gina Weddle, Robert W. Hickey, Vasanthi Avadhanula, Mary E. Wikswo, Aron J. Hall, Aaron T. Curns, Susan I. Gerber, Gayle Langley Nov 2020

Severe Acute Respiratory Syndrome Coronavirus 2 Infections In Children: Multicenter Surveillance, United States, January-March 2020., Brian Rha, Joana Y. Lively, Janet A. Englund, Mary A. Staat, Geoffrey A. Weinberg, Rangaraj Selvarangan, Natasha B. Halasa, John V. Williams, Julie A. Boom, Leila C. Sahni, Marian G. Michaels, Laura S. Stewart, Christopher J. Harrison, Peter G. Szilagyi, Monica M. Mcneal, Eileen J. Klein, Bonnie Strelitz, Kirsten Lacombe, Elizabeth Schlaudecker, Mary Moffatt, Jennifer E. Schuster, Barbara A. Pahud, Gina Weddle, Robert W. Hickey, Vasanthi Avadhanula, Mary E. Wikswo, Aron J. Hall, Aaron T. Curns, Susan I. Gerber, Gayle Langley

Manuscripts, Articles, Book Chapters and Other Papers

Previous reports of coronavirus disease 2019 among children in the United States have been based on health jurisdiction reporting. We performed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) testing on children enrolled in active, prospective, multicenter surveillance during January-March 2020. Among 3187 children, only 4 (0.1%) SARS-CoV-2-positive cases were identified March 20-31 despite evidence of rising community circulation.


Intravenous Immune Globulin Uses In The Fetus And Neonate: A Review., Mahdi Alsaleem Nov 2020

Intravenous Immune Globulin Uses In The Fetus And Neonate: A Review., Mahdi Alsaleem

Manuscripts, Articles, Book Chapters and Other Papers

Intravenous immune globulin (IVIG) is made after processing plasma from healthy donors. It is composed mainly of pooled immunoglobulin and has clinical evidence-based applications in adult and pediatric populations. Recently, several clinical applications have been proposed for managing conditions in the neonatal population, such as hemolytic disease of the newborn, treatment, and prophylaxis for sepsis in high-risk neonates, enterovirus parvovirus and COVID-19 related neonatal infections, fetal and neonatal immune-induced thrombocytopenia, neonatal hemochromatosis, neonatal Kawasaki disease, and some types of immunodeficiency. The dosing, mechanism of action, effectiveness, side effects, and adverse reactions of IVIG have been relatively well studied in adults …


Active Music Engagement And Cortisol As An Acute Stress Biomarker In Young Hematopoietic Stem Cell Transplant Patients And Caregivers: Results Of A Single Case Design Pilot Study., Steven J. Holochwost, Sheri L. Robb, Amanda K. Henley, Kristin Stegenga, Susan M. Perkins, Kristen A. Russ, Seethal A. Jacob, David Delgado, Joan E. Haase, Caitlin M. Krater Nov 2020

Active Music Engagement And Cortisol As An Acute Stress Biomarker In Young Hematopoietic Stem Cell Transplant Patients And Caregivers: Results Of A Single Case Design Pilot Study., Steven J. Holochwost, Sheri L. Robb, Amanda K. Henley, Kristin Stegenga, Susan M. Perkins, Kristen A. Russ, Seethal A. Jacob, David Delgado, Joan E. Haase, Caitlin M. Krater

Manuscripts, Articles, Book Chapters and Other Papers

This paper reports the results of a single case design pilot study of a music therapy intervention [the Active Music Engagement (AME)] for young children (age 3.51 to 4.53 years) undergoing hematopoietic stem cell transplantation (HCST) and their caregivers. The primary aims of the study were to determine feasibility/acceptability of the AME intervention protocol and data collection in the context of HCST. Secondary aims were to examine caregivers' perceptions of the benefit of AME and whether there were changes in child and caregiver cortisol levels relative to the AME intervention. Results indicated that the AME could be implemented in this …