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Learning Circles: Promoting Inclusive Care Starting In The Classroom, April Graham, Kindsey Gattman, Tobias Johnson Apr 2024

Learning Circles: Promoting Inclusive Care Starting In The Classroom, April Graham, Kindsey Gattman, Tobias Johnson

Articles, Abstracts, and Reports

No abstract provided.


Discrepancies In Age-Based Medication Dosing, Chad Ruger, Anne Keeling, Sera Jacob, Cassidy Macarthur Apr 2023

Discrepancies In Age-Based Medication Dosing, Chad Ruger, Anne Keeling, Sera Jacob, Cassidy Macarthur

Articles, Abstracts, and Reports

No abstract provided.


Implementing Team Birth To Improve Patient Satisfaction On An Ldrp (Team Birthsingleroom ) Unit, Deanna Higgins, Alyson Willard, Teresa Rangel Apr 2023

Implementing Team Birth To Improve Patient Satisfaction On An Ldrp (Team Birthsingleroom ) Unit, Deanna Higgins, Alyson Willard, Teresa Rangel

Articles, Abstracts, and Reports

No abstract provided.


Identifying And Improving System Barriers To Promote Successful Breastfeeding In Resident Physicians, Brigette Schuman, Michelle Drobny, Elizabeth Savage, Colleen Zimmermann Apr 2023

Identifying And Improving System Barriers To Promote Successful Breastfeeding In Resident Physicians, Brigette Schuman, Michelle Drobny, Elizabeth Savage, Colleen Zimmermann

Articles, Abstracts, and Reports

No abstract provided.


Screening For Adverse Childhood Experiences In Primary Care, Michelle Mckay, Logan Shetlar Jan 2022

Screening For Adverse Childhood Experiences In Primary Care, Michelle Mckay, Logan Shetlar

View All Washington/Montana GME

Presented at the 2022 Virtual Northwest Medical Research Symposium


Sars-Cov-2 Antibodies Detected In Human Breast Milk Postvaccination, Jill K. Baird, Shawn M. Jensen, Walter Urba, Bernard A Fox, Jason R Baird Mar 2021

Sars-Cov-2 Antibodies Detected In Human Breast Milk Postvaccination, Jill K. Baird, Shawn M. Jensen, Walter Urba, Bernard A Fox, Jason R Baird

Articles, Abstracts, and Reports

Importance The SARS-CoV-2 pandemic has infected over a hundred million people worldwide, with almost 2.5 million deaths at the date of this publication. In the United States, Pfizer-BioNTech and Moderna vaccines were first administered to the public starting in December 2020, and no lactating women were included in the initial trials of safety/efficacy. Research on SARS-CoV-2 vaccination in lactating women and the potential transmission of passive immunity to the infant through breast milk is needed to guide patients, clinicians and policy makers during the worldwide effort to curb the spread of this virus.

Objective To determine whether SARS-CoV-2 specific immunoglobins …


Feasibility Of Treating High Grade Gliomas In Children With Tumor-Treating Fields: A Case Series., John Crawford, Marlon G Saria, Girish Dhall, Ashley Margol, Santosh Kesari Oct 2020

Feasibility Of Treating High Grade Gliomas In Children With Tumor-Treating Fields: A Case Series., John Crawford, Marlon G Saria, Girish Dhall, Ashley Margol, Santosh Kesari

Articles, Abstracts, and Reports

Children diagnosed with high grade gliomas (HGG) have dismal prognoses and treatment options remain limited. Tumor treating fields (TTFields) in combination with temozolomide (TMZ) is approved for the treatment of newly diagnosed and recurrent glioblastoma (GBM) in adult patients. However, clinical experience with TTFields in the pediatric HGG population is lacking. This retrospective review of four clinical cases was undertaken to evaluate the feasibility of treating children diagnosed with HGG off-label with TTFields. Patients were evaluated for device compliance, safety, and outcome. Treatment with TTFields was delivered via four transducer arrays placed on the shaved scalp, which were connected to …


Correction To: Medical Neglect As A Contributor To Poorly Controlled Asthma In Childhood., Barbara L Knox, Francois M Luyet, Debra Esernio-Jenssen Sep 2020

Correction To: Medical Neglect As A Contributor To Poorly Controlled Asthma In Childhood., Barbara L Knox, Francois M Luyet, Debra Esernio-Jenssen

Articles, Abstracts, and Reports

[This corrects the article DOI: 10.1007/s40653-019-00290-0.].


Congenital Myasthenic Syndrome Caused By A Frameshift Insertion Mutation In, Szabolcs Szelinger, Jonida Krate, Keri Ramsey, Samuel P Strom, Perry B Shieh, Hane Lee, Newell Belnap, Chris Balak, Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ana M Claasen, Isabelle Schrauwen, Stanley F Nelson, Matthew J Huentelman, David W Craig, Samuel Yang, Steven A Moore, Kumaraswamy Sivakumar, Vinodh Narayanan, Sampathkumar Rangasamy, Ucla Clinical Genomics Center Aug 2020

Congenital Myasthenic Syndrome Caused By A Frameshift Insertion Mutation In, Szabolcs Szelinger, Jonida Krate, Keri Ramsey, Samuel P Strom, Perry B Shieh, Hane Lee, Newell Belnap, Chris Balak, Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ana M Claasen, Isabelle Schrauwen, Stanley F Nelson, Matthew J Huentelman, David W Craig, Samuel Yang, Steven A Moore, Kumaraswamy Sivakumar, Vinodh Narayanan, Sampathkumar Rangasamy, Ucla Clinical Genomics Center

Articles, Abstracts, and Reports

Objective: Description of a new variant of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) gene causing congenital myasthenic syndrome (CMS) in 3 children from 2 unrelated families.

Methods: Muscle biopsies, EMG, and whole-exome sequencing were performed.

Results: All 3 patients presented with congenital hypotonia, muscle weakness, respiratory insufficiency, head lag, areflexia, and gastrointestinal dysfunction. Genetic analysis identified a homozygous frameshift insertion in the GFPT1 gene (NM_001244710.1: c.686dupC; p.Arg230Ter) that was shared by all 3 patients. In one of the patients, inheritance of the variant was through uniparental disomy (UPD) with maternal origin. Repetitive nerve stimulation and single-fiber EMG was consistent …


Respiratory Failure Due To A Large Mediastinal Mass In A 4-Year-Old Female With Blast Cell Crisis: A Case Report., Christian I Wade, Cody J Couperus-Mashewske, Mia E Geurts, Nicholas Derfler, John Ngo, Kyle S Couperus Aug 2020

Respiratory Failure Due To A Large Mediastinal Mass In A 4-Year-Old Female With Blast Cell Crisis: A Case Report., Christian I Wade, Cody J Couperus-Mashewske, Mia E Geurts, Nicholas Derfler, John Ngo, Kyle S Couperus

Articles, Abstracts, and Reports

INTRODUCTION: Symptomatic leukostasis is an exceptionally atypical presentation of blast crisis; and when coupled with an enlarged neoplastic mediastinal mass in a four-year-old female, an extremely rare and challenging pediatric emergency arises.

CASE REPORT: We present a unique case of a four-year-old female who arrived via emergency medical services in cardiopulmonary arrest with clinical and radiographic evidence suggestive of bilateral pneumothoraces, prompting bilateral chest tube placement. Further evaluation revealed a large mediastinal mass and a concurrent white blood cell count of 428,400 per milliliter (/mL) (4,400-12,900/mL), with a 96% blast differential, consistent with complications of T-cell acute lymphoblastic leukemia.

CONCLUSION: …


Bilateral Pulmonary Metastases Of Papillary Thyroid Carcinoma In A 12-Year-Old Child-A Case Report And Review Of The Literature., V Thirumala, C O'Souji, S Thirumala Jun 2020

Bilateral Pulmonary Metastases Of Papillary Thyroid Carcinoma In A 12-Year-Old Child-A Case Report And Review Of The Literature., V Thirumala, C O'Souji, S Thirumala

Articles, Abstracts, and Reports

Metastatic disease of the lung has been extensively documented in the adult patient population. The most common primary sources for pulmonary metastases include breast, colon gastrointestinal including pancreas and urinary bladder. Malignant lung tumors in pediatric population is extremely rare. However, like in adult patient population, metastases are more common than primary tumors in lung in pediatric patients. Metastatic spread of tumors can occur both by way of hematogenous spread and lymphatic pathways. We present a rare case of biopsy proven metastatic thyroid carcinoma in the lung in a 12-year-old male child masquerading as bilateral miliary nodules on imaging studies. …


Urinary Epidermal Growth Factor As A Marker Of Disease Progression In Children With Nephrotic Syndrome., Debbie S Gipson, Howard Trachtman, Anne Waldo, Keisha L Gibson, Sean Eddy, Katherine M Dell, Tarak Srivastava, Kevin V Lemley, Larry A Greenbaum, Sangeeta Hingorani, Kevin E Meyers, Frederick J Kaskel, Kimberly J Reidy, Christine B Sethna, Cheryl L Tran, Chia-Shi Wang, Katherine Tuttle, Gia Oh, Alicia M Neu, Elizabeth Brown, Jen-Jar Lin, Jennifer Lai Yee, Therese M Roth, Jonathan P Troost, Brenda W Gillespie, Matthew G Sampson, Matthias Kretzler, Wenjun Ju Apr 2020

Urinary Epidermal Growth Factor As A Marker Of Disease Progression In Children With Nephrotic Syndrome., Debbie S Gipson, Howard Trachtman, Anne Waldo, Keisha L Gibson, Sean Eddy, Katherine M Dell, Tarak Srivastava, Kevin V Lemley, Larry A Greenbaum, Sangeeta Hingorani, Kevin E Meyers, Frederick J Kaskel, Kimberly J Reidy, Christine B Sethna, Cheryl L Tran, Chia-Shi Wang, Katherine Tuttle, Gia Oh, Alicia M Neu, Elizabeth Brown, Jen-Jar Lin, Jennifer Lai Yee, Therese M Roth, Jonathan P Troost, Brenda W Gillespie, Matthew G Sampson, Matthias Kretzler, Wenjun Ju

Articles, Abstracts, and Reports

Introduction: Childhood-onset nephrotic syndrome has a variable clinical course. Improved predictive markers of long-term outcomes in children with nephrotic syndrome are needed. This study tests the association between baseline urinary epidermal growth factor (uEGF) excretion and longitudinal kidney function in children with nephrotic syndrome.

Methods: The study evaluated 191 participants younger than 18 years enrolled in the Nephrotic Syndrome Study Network, including 118 with their first clinically indicated kidney biopsy (68 minimal change disease; 50 focal segmental glomerulosclerosis) and 73 with incident nephrotic syndrome without a biopsy. uEGF was measured at baseline for all participants and normalized by the urine …


Impact Of Prevnar (Pcv13) Vaccine Recommendations In Pediatric And Immunocompetent Adults 65 Years And Older: What Are The Benefits And Risks?, James E. Watkins, Anne Marie Thibodeaux, John C. Darnell Dec 2019

Impact Of Prevnar (Pcv13) Vaccine Recommendations In Pediatric And Immunocompetent Adults 65 Years And Older: What Are The Benefits And Risks?, James E. Watkins, Anne Marie Thibodeaux, John C. Darnell

Articles, Abstracts, and Reports

Background:

2000: PCV7 becomes the first FDA approved pneumococcal vaccine for pediatrics
2010: PCV13 recommended in pediatrics
2014: PCV13 recommended in immunocompetent adults 65+
2018: CDC looked at data since 2014 recommendation
2019: PCV13 now shared clinical decision-making


Impact Of Integrating A Neonatal Early-Onset Sepsis Risk Calculator Into The Electronic Health Record., Nyles T Fowler, Michael Garcia, Cynthia Hankins Nov 2019

Impact Of Integrating A Neonatal Early-Onset Sepsis Risk Calculator Into The Electronic Health Record., Nyles T Fowler, Michael Garcia, Cynthia Hankins

Articles, Abstracts, and Reports

Investigators from Kaiser Permanente developed a risk-assessment calculator as a tool for evaluation of early-onset sepsis (EOS) to narrow antibiotic use for the treatment of EOS. The integration of the EOS risk calculator into an electronic health record will minimize manual calculations and data entry and improve compliance and accuracy through automation.

Methods: We performed a retrospective chart review for neonates ≥34 weeks and 0 days gestational age. We collected data pre-integration and post-integration of the EOS risk calculator. The primary outcome measure is the accuracy of user input into the calculator. Secondary outcomes include compliance with using the EOS …


Difficult Conversations., Alison Christy Jan 2019

Difficult Conversations., Alison Christy

Articles, Abstracts, and Reports

No abstract provided.


Standardized Outcome Measures For Pregnancy And Childbirth, An Ichom Proposal., Malini Anand Nijagal, Stephanie Wissig, Caleb Stowell, Elizabeth Olson, Isis Amer-Wahlin, Gouke Bonsel, Allyson Brooks, Matthew Coleman, Shamala Devi Karalasingam, James M N Duffy, Tracy Flanagan, Stefan Gebhardt, Meridith E Greene, Floris Groenendaal, J Ravichandran R Jeganathan, Tessa Kowaliw, Marije Lamain-De-Ruiter, Elliott Main, Michelle Owens, Rod Petersen, Irwin Reiss, Carol Sakala, Anna Maria Speciale, Rachel Thompson, Oluwakemi Okunade, Arie Franx Dec 2018

Standardized Outcome Measures For Pregnancy And Childbirth, An Ichom Proposal., Malini Anand Nijagal, Stephanie Wissig, Caleb Stowell, Elizabeth Olson, Isis Amer-Wahlin, Gouke Bonsel, Allyson Brooks, Matthew Coleman, Shamala Devi Karalasingam, James M N Duffy, Tracy Flanagan, Stefan Gebhardt, Meridith E Greene, Floris Groenendaal, J Ravichandran R Jeganathan, Tessa Kowaliw, Marije Lamain-De-Ruiter, Elliott Main, Michelle Owens, Rod Petersen, Irwin Reiss, Carol Sakala, Anna Maria Speciale, Rachel Thompson, Oluwakemi Okunade, Arie Franx

Articles, Abstracts, and Reports

BACKGROUND: Value-based health care aims to optimize the balance of patient outcomes and health care costs. To improve value in perinatal care using this strategy, standard outcomes must first be defined. The objective of this work was to define a minimum, internationally appropriate set of outcome measures for evaluating and improving perinatal care with a focus on outcomes that matter to women and their families.

METHODS: An interdisciplinary and international Working Group was assembled. Existing literature and current measurement initiatives were reviewed. Serial guided discussions and validation surveys provided consumer input. A series of nine teleconferences, incorporating a modified Delphi …


Emerging Themes In Food Security: Environmental Justice, Extended Families And The Multiple Roles Of Grandmothers., Ethel Alderete, Lauren Sonderegger, Eliseo J Pérez-Stable Sep 2018

Emerging Themes In Food Security: Environmental Justice, Extended Families And The Multiple Roles Of Grandmothers., Ethel Alderete, Lauren Sonderegger, Eliseo J Pérez-Stable

Articles, Abstracts, and Reports

BACKGROUND: Pre- and perinatal nutritional status defines the development of adult metabolism and energy balance in humans. Young children in poor households are disproportionately more vulnerable to food insecurity given the cumulative impact of chronic stress on susceptibility to chronic diseases as an adult. Qualitative studies focusing on the experience of food insecurity in Latin America are scarce. In Argentina, although socioeconomic indicators improved in the aftermath of the 2001ecomomic crisis, the disadvantaged provinces in the north continue to bear the burden of historical inequities. The study was conducted among Primary Health Care patients in the city of San Salvador …


The Antepartum Stillbirth Syndrome: Risk Factors And Pregnancy Conditions Identified From The Intergrowth-21, J E Hirst, J Villar, C G Victora, A T Papageorghiou, D Finkton, F C Barros, M G Gravett, F Giuliani, M Purwar, I O Frederick, R Pang, L Cheikh Ismail, A Lambert, W Stones, Y A Jaffer, D G Altman, J A Noble, E O Ohuma, S H Kennedy, Z A Bhutta Aug 2018

The Antepartum Stillbirth Syndrome: Risk Factors And Pregnancy Conditions Identified From The Intergrowth-21, J E Hirst, J Villar, C G Victora, A T Papageorghiou, D Finkton, F C Barros, M G Gravett, F Giuliani, M Purwar, I O Frederick, R Pang, L Cheikh Ismail, A Lambert, W Stones, Y A Jaffer, D G Altman, J A Noble, E O Ohuma, S H Kennedy, Z A Bhutta

Articles, Abstracts, and Reports

OBJECTIVES: To identify risk factors for antepartum stillbirth, including fetal growth restriction, among women with well-dated pregnancies and access to antenatal care.

DESIGN: Population-based, prospective, observational study.

SETTING: Eight international urban populations.

POPULATION: Pregnant women and their babies enrolled in the Newborn Cross-Sectional Study of the INTERGROWTH-21

METHODS: Cox proportional hazard models were used to compare risks among antepartum stillborn and liveborn babies.

MAIN OUTCOME MEASURES: Antepartum stillbirth was defined as any fetal death after 16 weeks' gestation before the onset of labour.

RESULTS: Of 60 121 babies, 553 were stillborn (9.2 per 1000 births), of which 445 were antepartum …


Digital Health Practices, Social Media Use, And Mental Well-Being Among Teens And Young Adults In The U.S., Victoria Rideout, Susannah Fox, Well Being Trust Jul 2018

Digital Health Practices, Social Media Use, And Mental Well-Being Among Teens And Young Adults In The U.S., Victoria Rideout, Susannah Fox, Well Being Trust

Articles, Abstracts, and Reports

A national survey of 14- to 22-year-olds provides new evidence on the growing mental health crisis affecting young people. The survey, sponsored by Hopelab and Well Being Trust (WBT), finds that large numbers of teens and young adults experiencing moderate to severe symptoms of depression are turning to the internet for help, including researching mental health issues online (90 percent), accessing other people’s health stories through blogs, podcasts, and videos (75 percent), using mobile apps related to well-being (38 percent), and connecting with health providers through digital tools such as texting and video chat (32 percent).

“This survey suggests that …


Macrophage-Derived Il-1Β/Nf-Κb Signaling Mediates Parenteral Nutrition-Associated Cholestasis., Karim C El Kasmi, Padade M Vue, Aimee L Anderson, Michael W Devereaux, Swati Ghosh, Natarajan Balasubramaniyan, Sophie A Fillon, Carola Dahrenmoeller, Ayed Allawzi, Crystal Woods, Sarah Mckenna, Clyde J Wright, Linda Johnson, Angelo D'Alessandro, Julie A Reisz, Eva Nozik-Grayck, Frederick J Suchy, Ronald J Sokol Apr 2018

Macrophage-Derived Il-1Β/Nf-Κb Signaling Mediates Parenteral Nutrition-Associated Cholestasis., Karim C El Kasmi, Padade M Vue, Aimee L Anderson, Michael W Devereaux, Swati Ghosh, Natarajan Balasubramaniyan, Sophie A Fillon, Carola Dahrenmoeller, Ayed Allawzi, Crystal Woods, Sarah Mckenna, Clyde J Wright, Linda Johnson, Angelo D'Alessandro, Julie A Reisz, Eva Nozik-Grayck, Frederick J Suchy, Ronald J Sokol

Articles, Abstracts, and Reports

In infants intolerant of enteral feeding because of intestinal disease, parenteral nutrition may be associated with cholestasis, which can progress to end-stage liver disease. Here we show the function of hepatic macrophages and phytosterols in parenteral nutrition-associated cholestasis (PNAC) pathogenesis using a mouse model that recapitulates the human pathophysiology and combines intestinal injury with parenteral nutrition. We combine genetic, molecular, and pharmacological approaches to identify an essential function of hepatic macrophages and IL-1β in PNAC. Pharmacological antagonism of IL-1 signaling or genetic deficiency in CCR2, caspase-1 and caspase-11, or IL-1 receptor (which binds both IL-1α and IL-1β) prevents PNAC in …


Immediate Versus Delayed Insertion Of The Levonorgestrel Intrauterine Device In Postpartum Adolescents: A Randomized Pilot Study., Reni Soon, Katie Mcguire, Jennifer Salcedo, Bliss Kaneshiro Mar 2018

Immediate Versus Delayed Insertion Of The Levonorgestrel Intrauterine Device In Postpartum Adolescents: A Randomized Pilot Study., Reni Soon, Katie Mcguire, Jennifer Salcedo, Bliss Kaneshiro

Articles, Abstracts, and Reports

This pilot study assessed the feasibility of conducting a larger randomized controlled trial comparing the proportion of adolescents using a levonorgestrel intrauterine device (LNG IUD) at six months postpartum when it is inserted immediately after vaginal delivery (within 10 minutes after placental expulsion) compared to insertion four to six weeks postpartum. Pregnant adolescents (14 to 19 years) who desired a LNG IUD for postpartum contraception were randomized to insertion of the LNG IUD either within 10 minutes of delivery of the placenta or at 4-6 weeks postpartum. Study follow-up visits were conducted at 4-6 weeks postpartum, 10 weeks postpartum, and …


Surgical Interventions For Advanced Parameningeal Rhabdomyosarcoma Of Children And Adolescents., Paul J Choi, Joe Iwanaga, R Shane Tubbs, Emre Yilmaz Jan 2018

Surgical Interventions For Advanced Parameningeal Rhabdomyosarcoma Of Children And Adolescents., Paul J Choi, Joe Iwanaga, R Shane Tubbs, Emre Yilmaz

Articles, Abstracts, and Reports

Owing to its rarity, rhabdomyosarcoma of the head and neck (HNRMS) has seldom been discussed in the literature. As most of the data is based only on the retrospective experiences of tertiary healthcare centers, there are difficulties in formulating a standard treatment protocol. Moreover, the disease is poorly understood at its pathological, genetic, and molecular levels. For instance, 20% of all histological assessment is inaccurate; even an experienced pathologist can confuse rhabdomyosarcoma (RMS) with neuroblastoma, Ewing's sarcoma, and lymphoma. RMS can occur sporadically or in association with genetic syndromes associated with predisposition to other cancers such as Li-Fraumeni syndrome and …


Catecholaminergic Polymorphic Ventricular Tachycardia Patients With Multiple Genetic Variants In The Paces Cpvt Registry., Thomas M Roston, Omid Haji-Ghassemi, Martin J Lapage, Anjan S Batra, Yaniv Bar-Cohen, Chris Anderson, Yung R Lau, Kathleen Maginot, Roman A Gebauer, Susan P Etheridge, James E Potts, Filip Van Petegem, Shubhayan Sanatani Jan 2018

Catecholaminergic Polymorphic Ventricular Tachycardia Patients With Multiple Genetic Variants In The Paces Cpvt Registry., Thomas M Roston, Omid Haji-Ghassemi, Martin J Lapage, Anjan S Batra, Yaniv Bar-Cohen, Chris Anderson, Yung R Lau, Kathleen Maginot, Roman A Gebauer, Susan P Etheridge, James E Potts, Filip Van Petegem, Shubhayan Sanatani

Articles, Abstracts, and Reports

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is often a life-threatening arrhythmia disorder with variable penetrance and expressivity. Little is known about the incidence or outcomes of CPVT patients with ≥2 variants.

METHODS: The phenotypes, genotypes and outcomes of patients in the Pediatric and Congenital Electrophysiology Society CPVT Registry with ≥2 variants in genes linked to CPVT were ascertained. The American College of Medical Genetics & Genomics (ACMG) criteria and structural mapping were used to predict the pathogenicity of variants (3D model of pig RyR2 in open-state).

RESULTS: Among 237 CPVT subjects, 193 (81%) had genetic testing. Fifteen patients (8%) with …


Congenital Ventricular Diverticulum Or Aneurysm: A Difficult Diagnosis To Make., Lloyd Halpern, Carl Garabedian, Neil K Worrall Jan 2018

Congenital Ventricular Diverticulum Or Aneurysm: A Difficult Diagnosis To Make., Lloyd Halpern, Carl Garabedian, Neil K Worrall

Articles, Abstracts, and Reports

A pouch protruding from the free wall of the left ventricle may be either a congenital ventricular diverticulum (CVD) or aneurysm (CVA). Being aware of these rare congenital anomalies is critical in making the diagnosis. Differentiating the two is important for treatment decisions. We describe a patient with dextrocardia, Tetralogy of Fallot, and a congenital left ventricular apical diverticulum diagnosed following the induction of anesthesia. CVD and CVA may present in the antenatal period through late adulthood with differing morphology, location, and symptoms. Echocardiography is paramount in the diagnosis and characterization of these lesions. If this anomaly is encountered after …


Second Primary Malignant Neoplasms And Survival In Adolescent And Young Adult Cancer Survivors., Theresa H M Keegan, Archie Bleyer, Aaron S Rosenberg, Qian Li, Melanie Goldfarb Nov 2017

Second Primary Malignant Neoplasms And Survival In Adolescent And Young Adult Cancer Survivors., Theresa H M Keegan, Archie Bleyer, Aaron S Rosenberg, Qian Li, Melanie Goldfarb

Articles, Abstracts, and Reports

Importance: Although the increased incidence of second primary malignant neoplasms (SPMs) is a well-known late effect after cancer, few studies have compared survival after an SPM to survival of the same cancer occurring as first primary malignant neoplasm (PM) by age.

Objective: To assess the survival impact of SPMs in adolescents and young adults (AYAs) (15-39 years) compared with that of pediatric (<15 >years) and older adult (≥40 years) patients with the same SPMs.

Design, Setting, and Participants: This was a population-based, retrospective cohort study of patients with cancer in 13 Surveillance, Epidemiology and End Results regions in the United …


Effects Of Socioeconomic Status On Children With Well-Differentiated Thyroid Cancer., Evan F Garner, Ilan I Maizlin, Matthew B Dellinger, Kenneth W Gow, Melanie Goldfarb, Adam B Goldin, John J Doski, Monica Langer, Jed G Nuchtern, Sanjeev A Vasudevan, Mehul V Raval, Elizabeth A Beierle Sep 2017

Effects Of Socioeconomic Status On Children With Well-Differentiated Thyroid Cancer., Evan F Garner, Ilan I Maizlin, Matthew B Dellinger, Kenneth W Gow, Melanie Goldfarb, Adam B Goldin, John J Doski, Monica Langer, Jed G Nuchtern, Sanjeev A Vasudevan, Mehul V Raval, Elizabeth A Beierle

Articles, Abstracts, and Reports

BACKGROUND: Well-differentiated thyroid cancer is the most common endocrine malignancy in children. Adult literature has demonstrated socioeconomic disparities in patients undergoing thyroidectomy, but the effects of socioeconomic status on the management of pediatric well-differentiated thyroid cancer remains poorly understood.

METHODS: Patients ≤21 years of age with well-differentiated thyroid cancer remains were reviewed from the National Cancer Data Base. Three socioeconomic surrogate variables were identified: insurance type, median income, and educational quartile. Tumor characteristics, diagnostic intervals, and clinical outcomes were compared within each socioeconomic surrogate variable.

RESULTS: A total of 9,585 children with well-differentiated thyroid cancer remains were reviewed. In multivariate …


The Quest For Sustained Multiple Morbidity Reduction In Very Low-Birth-Weight Infants: The Antifragility Project., Joseph Kaempf, N M Schmidt, S Rogers, C Novack, M Friant, L Wang, N Tipping Jun 2017

The Quest For Sustained Multiple Morbidity Reduction In Very Low-Birth-Weight Infants: The Antifragility Project., Joseph Kaempf, N M Schmidt, S Rogers, C Novack, M Friant, L Wang, N Tipping

Articles, Abstracts, and Reports

OBJECTIVE: Can a comprehensive, explicitly directive evidence-based guideline for all therapies that might affect the major morbidities of very low-birth-weight (VLBW) infants help a neonatal intensive care unit (NICU) further improve generally favorable morbidity rates? Can Antifragility principles of provider adaptive growth from stressors, enhanced infant risk assessment and adherence to effective therapies minimize unproven treatments and reduce all morbidities?

STUDY DESIGN: Prospectively planned observational trial in VLBW infants: control group born October 2011 to September 2013 and study group October 2013 to September 2015. Multi-disciplinary evidence-based review assigned all NICU treatments into one of four distinct categories: (1) always …


Placental Genetic Variations In Vitamin D Metabolism And Birthweight., Tsegaselassie Workalemahu, Sylvia E Badon, Michal Dishi-Galitzky, Chunfang Qiu, Michelle A Williams, Tanya Sorensen, Daniel A Enquobahrie Feb 2017

Placental Genetic Variations In Vitamin D Metabolism And Birthweight., Tsegaselassie Workalemahu, Sylvia E Badon, Michal Dishi-Galitzky, Chunfang Qiu, Michelle A Williams, Tanya Sorensen, Daniel A Enquobahrie

Articles, Abstracts, and Reports

INTRODUCTION: Vitamin D has pleiotropic functions that regulate fetal growth and development. We investigated associations of common placental genetic variations in vitamin D metabolism with birthweight.

METHODS: The study was conducted among participants (506 maternal-infant pairs) of a pregnancy cohort study. Data were collected using interviewer-administered questionnaires and post-delivery medical record abstraction. DNA, extracted from placental samples collected at delivery, was genotyped for eight single nucleotide polymorphisms (SNPs) in five vitamin D metabolism genes (CUBN, LRP2, VDR, GC, and CYP2R1). Linear and logistic regression models were used to evaluate associations of SNPs with birthweight and risk of low birthweight, respectively. …


Unresectable Hepatoblastoma: Current Perspectives., Angela D Trobaugh-Lotrario, Rebecka L Meyers, Allison F O'Neill, James H Feusner Jan 2017

Unresectable Hepatoblastoma: Current Perspectives., Angela D Trobaugh-Lotrario, Rebecka L Meyers, Allison F O'Neill, James H Feusner

Articles, Abstracts, and Reports

Although rare, hepatoblastoma is the most common pediatric liver tumor. Complete resection is a critical component for cure; however, most patients will have tumors that are not resected at diagnosis. For these patients, administration of neoadjuvant chemotherapy renders tumors resectable in most patients. For patients whose tumors remain unresectable after chemotherapy, liver transplantation is indicated (in the absence of active unresectable metastatic disease). In patients whose tumors remain unresectable after conventional chemotherapy, interventional techniques may serve as a promising option to reduce tumor size, decrease systemic toxicity, decrease need for liver transplantation, and increase feasibility of tumor resection.


Pik3ca-Associated Developmental Disorders Exhibit Distinct Classes Of Mutations With Variable Expression And Tissue Distribution, Ghayda Mirzaa, Andrew E Timms, Valerio Conti, Evan August Boyle, Katta M Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Stephen Braddock, Leah Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna Saitta, Rachel Straussberg, Michael Gabbett, Bridget C O'Connor, Catherine E Keegan, Lim Jiin Yin, Angeline Hwei Meeng Lai, Nicole Martin, Margaret Mckinnon, Marie-Claude Addor, Luigi Boccuto, Charles E Schwartz, Agustina Lanoel, Robert L Conway, Koenraad Devriendt, Katrina Tatton-Brown, Mary Ella Pierpont, Michael Painter, Lisa Worgan, James Reggin, Raoul Hennekam, Karen Tsuchiya, Colin C Pritchard, Mariana Aracena, Karen W Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia Curry, Anne Goriely, Hulya Kayserilli, Jay Shendure, John Graham, Renzo Guerrini, William B Dobyns Jun 2016

Pik3ca-Associated Developmental Disorders Exhibit Distinct Classes Of Mutations With Variable Expression And Tissue Distribution, Ghayda Mirzaa, Andrew E Timms, Valerio Conti, Evan August Boyle, Katta M Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Stephen Braddock, Leah Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna Saitta, Rachel Straussberg, Michael Gabbett, Bridget C O'Connor, Catherine E Keegan, Lim Jiin Yin, Angeline Hwei Meeng Lai, Nicole Martin, Margaret Mckinnon, Marie-Claude Addor, Luigi Boccuto, Charles E Schwartz, Agustina Lanoel, Robert L Conway, Koenraad Devriendt, Katrina Tatton-Brown, Mary Ella Pierpont, Michael Painter, Lisa Worgan, James Reggin, Raoul Hennekam, Karen Tsuchiya, Colin C Pritchard, Mariana Aracena, Karen W Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia Curry, Anne Goriely, Hulya Kayserilli, Jay Shendure, John Graham, Renzo Guerrini, William B Dobyns

Articles, Abstracts, and Reports

Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequencing in a cohort of 241 samples from 181 individuals with brain and/or body overgrowth. We identified PIK3CA mutations in 60 individuals. Several other individuals (n = 12) were identified separately to have mutations in PIK3CA by clinical targeted-panel testing (n = 6), whole-exome sequencing ( …