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Full-Text Articles in Medical Specialties

Teenage Exercise Is Associated With Earlier Symptom Onset In Dysferlinopathy: A Retrospective Cohort Study., Ursula R Moore, Marni Jacobs, Roberto Fernandez-Torron, Jiji Jang, Meredith K James, Diana X Bharucha-Goebel, +Several Additional Authors Jan 2018

Teenage Exercise Is Associated With Earlier Symptom Onset In Dysferlinopathy: A Retrospective Cohort Study., Ursula R Moore, Marni Jacobs, Roberto Fernandez-Torron, Jiji Jang, Meredith K James, Diana X Bharucha-Goebel, +Several Additional Authors

Pediatrics Faculty Publications

No abstract provided.


Birth Weight And Body Mass Index Z-Score In Childhood Brain Tumors: A Cross-Sectional Study, Kuan-Wen Wang, Russell J De Souza, Adam Fleming, Donna L Johnston, Shayna M Zelcer, Shahrad Rod Rassekh, Sarah Burrow, Lehana Thabane, M Constantine Samaan Jan 2018

Birth Weight And Body Mass Index Z-Score In Childhood Brain Tumors: A Cross-Sectional Study, Kuan-Wen Wang, Russell J De Souza, Adam Fleming, Donna L Johnston, Shayna M Zelcer, Shahrad Rod Rassekh, Sarah Burrow, Lehana Thabane, M Constantine Samaan

Paediatrics Publications

Children with brain tumors (CBT) are at higher risk of cardiovascular disease and type 2 diabetes compared to the general population, in which birth weight is a risk factor for these diseases. However, this is not known in CBT. The primary aim of this study was to explore the association between birth weight and body mass measures in CBT, compared to non-cancer controls. This is a secondary data analysis using cross-sectional data from the CanDECIDE study (n = 78 CBT and n = 133 non-cancer controls). Age, sex, and birth weight (grams) were self-reported, and confirmed through examination of the …


Direct Detection Of Shigella In Stool Specimens By Use Of A Metagenomic Approach, Jie Liu, Mathieu Almeida, Furqan Kabir, Sadia Shakoor, Shahida Qureshi, Anita K. M. Zaidi, Shan Li, Boubou Tamboura, Samba O. Sow, Inacio Mandomando Jan 2018

Direct Detection Of Shigella In Stool Specimens By Use Of A Metagenomic Approach, Jie Liu, Mathieu Almeida, Furqan Kabir, Sadia Shakoor, Shahida Qureshi, Anita K. M. Zaidi, Shan Li, Boubou Tamboura, Samba O. Sow, Inacio Mandomando

Department of Paediatrics and Child Health

The underestimation of Shigella species as a cause of childhood diarrhea disease has become increasingly apparent with quantitative PCR (qPCR)-based diagnostic methods versus culture. We sought to confirm qPCR-based detection of Shigella via a metagenomics approach. Three groups of samples were selected from diarrheal cases from the Global Enteric Multicenter Study: nine Shigella culture-positive and qPCR-positive (culture+ qPCR+) samples, nine culture-negative but qPCR-positive (culture- qPCR+) samples, and nine culture-negative and qPCR-negative (culture- qPCR-) samples. Fecal DNA was sequenced using paired-end Illumina HiSeq, whereby 3.26 × 108 ± 5.6 × 10 …


Partnerships For Child Health: Capitalising On Links Between The Sustainable Development Goals, Yulia Blomstedt, Zulfiqar Ahmed Bhutta, Johan Dahlstrand, Peter Friberg, Lawrence O. Gostin, Måns Nilsson, Nelson K. Sewankambo, Göran Tomson, Tobias Alfvén Jan 2018

Partnerships For Child Health: Capitalising On Links Between The Sustainable Development Goals, Yulia Blomstedt, Zulfiqar Ahmed Bhutta, Johan Dahlstrand, Peter Friberg, Lawrence O. Gostin, Måns Nilsson, Nelson K. Sewankambo, Göran Tomson, Tobias Alfvén

Department of Paediatrics and Child Health

No abstract provided.


Emotion Regulation And Positive Affect In The Context Of Salivary Alpha-Amylase Response To Pain In Children With Cancer, Brooke N. Jenkins, Douglas A. Granger, Ryan J. Roemer, Ariana Martinez, Tara K. Torres, Michelle A. Fortier Jan 2018

Emotion Regulation And Positive Affect In The Context Of Salivary Alpha-Amylase Response To Pain In Children With Cancer, Brooke N. Jenkins, Douglas A. Granger, Ryan J. Roemer, Ariana Martinez, Tara K. Torres, Michelle A. Fortier

Psychology Faculty Articles and Research

Background

Children with cancer routinely undergo painful medical procedures invoking strong physiological stress responses. Resilience to this pain may be conferred through resources such as emotion regulation strategies and positive affect.

Procedure

This study measured dispositional positive affect in children with cancer (N = 73) and randomly assigned participants to one of three emotion regulation strategy conditions (distraction, reappraisal, or reassurance). Children applied their assigned strategy during an experimental pain procedure (the cold pressor task [CPT]) and provided saliva samples before, immediately after, and 15 min after the CPT. Saliva samples were later assayed for salivary alpha amylase (sAA)—a surrogate …


Fasoracetam In Adolescents With Adhd And Glutamatergic Gene Network Variants Disrupting Mglur Neurotransmitter Signaling., Josephine Elia, Grace Ungal, Charlly Kao, Alexander Ambrosini, Nilsa De Jesus-Rosario, Lene Larsen, Rosetta Chiavacci, Tiancheng Wang, Christine Kurian, Kanani Titchen, Brian Sykes, Sharon Hwang, Bhumi Kumar, Jacqueline Potts, Joshua Davis, Jeffrey Malatack, Emma Slattery, Ganesh Moorthy, Athena Zuppa, Andrew Weller, Enda Byrne, Yun R. Li, Walter K. Kraft, Hakon Hakonarson Jan 2018

Fasoracetam In Adolescents With Adhd And Glutamatergic Gene Network Variants Disrupting Mglur Neurotransmitter Signaling., Josephine Elia, Grace Ungal, Charlly Kao, Alexander Ambrosini, Nilsa De Jesus-Rosario, Lene Larsen, Rosetta Chiavacci, Tiancheng Wang, Christine Kurian, Kanani Titchen, Brian Sykes, Sharon Hwang, Bhumi Kumar, Jacqueline Potts, Joshua Davis, Jeffrey Malatack, Emma Slattery, Ganesh Moorthy, Athena Zuppa, Andrew Weller, Enda Byrne, Yun R. Li, Walter K. Kraft, Hakon Hakonarson

Department of Pediatrics Faculty Papers

The glutamatergic neurotransmitter system may play an important role in attention-deficit hyperactivity disorder (ADHD). This 5-week, open-label, single-blind, placebo-controlled study reports the safety, pharmacokinetics and responsiveness of the metabotropic glutamate receptor (mGluR) activator fasoracetam (NFC-1), in 30 adolescents, age 12-17 years with ADHD, harboring mutations in mGluR network genes. Mutation status was double-blinded. A single-dose pharmacokinetic profiling from 50-800 mg was followed by a single-blind placebo at week 1 and subsequent symptom-driven dose advancement up to 400 mg BID for 4 weeks. NFC-1 treatment resulted in significant improvement. Mean Clinical Global Impressions-Improvement (CGI-I) and Severity (CGI-S) scores were, respectively, 3.79 …


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 …


Fgf23 And Left Ventricular Hypertrophy In Children With Ckd., Mark M. Mitsnefes, Aisha Betoko, Michael F. Schneider, Isidro B. Salusky, Myles Selig Wolf, Harald Jüppner, Bradley A. Warady, Susan L. Furth, Anthony A. Portale Jan 2018

Fgf23 And Left Ventricular Hypertrophy In Children With Ckd., Mark M. Mitsnefes, Aisha Betoko, Michael F. Schneider, Isidro B. Salusky, Myles Selig Wolf, Harald Jüppner, Bradley A. Warady, Susan L. Furth, Anthony A. Portale

Manuscripts, Articles, Book Chapters and Other Papers

Background and objectives: High plasma concentration of fibroblast growth factor 23 (FGF23) is a risk factor for left ventricular hypertrophy (LVH) in adults with CKD, and induces myocardial hypertrophy in experimental CKD. We hypothesized that high FGF23 levels associate with a higher prevalence of LVH in children with CKD.

Design, setting, participants, & measurements: We performed echocardiograms and measured plasma C-terminal FGF23 concentrations in 587 children with mild-to-moderate CKD enrolled in the Chronic Kidney Disease in Children (CKiD) study. We used linear and logistic regression to analyze the association of plasma FGF23 with left ventricular mass index (LVMI) and LVH …


Mental Disorder In Children With Physical Conditions: A Pilot Study, Alexandra Butler, Ryan J Van Lieshout, Ellen Louise Lipman, Harriet L Macmillan, Andrea Gonzalez, Jan Willem Gorter, Kathy Georgiades, Kathy N Speechley, Michael H Boyle, Mark A Ferro Jan 2018

Mental Disorder In Children With Physical Conditions: A Pilot Study, Alexandra Butler, Ryan J Van Lieshout, Ellen Louise Lipman, Harriet L Macmillan, Andrea Gonzalez, Jan Willem Gorter, Kathy Georgiades, Kathy N Speechley, Michael H Boyle, Mark A Ferro

Paediatrics Publications

Objectives

Methodologically, to assess the feasibility of participant recruitment and retention, as well as missing data in studying mental disorder among children newly diagnosed with chronic physical conditions (ie, multimorbidity). Substantively, to examine the prevalence of multimorbidity, identify sociodemographic correlates and model the influence of multimorbidity on changes in child quality of life and parental psychosocial outcomes over a 6-month follow-up.

Design

Prospective pilot study.

Setting

Two children's tertiary-care hospitals.

Participants

Children aged 6-16 years diagnosed in the past 6 months with one of the following: asthma, diabetes, epilepsy, food allergy or juvenile arthritis, and their parents.

Outcome Measures

Response, …


Somatic Mutations And Clonal Hematopoiesis In Congenital Neutropenia, J. Xia, C. A. Miller, J. Baty, A. Ramesh, M. R. Jotte, R. S. Fulton, T. P. Vogel, M. A. Cooper, A. Vlachos, D. C. Link, +11 Additional Authors Jan 2018

Somatic Mutations And Clonal Hematopoiesis In Congenital Neutropenia, J. Xia, C. A. Miller, J. Baty, A. Ramesh, M. R. Jotte, R. S. Fulton, T. P. Vogel, M. A. Cooper, A. Vlachos, D. C. Link, +11 Additional Authors

Journal Articles

© 2018 by The American Society of Hematology. Severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leukemic transformation. Hematopoietic stressors may contribute to leukemic transformation by increasing the mutation rate in hematopoietic stem/progenitor cells (HSPCs) and/or by promoting clonal hematopoiesis. We sequenced the exome of individual hematopoietic colonies derived from 13 patients with congenital neutropenia to measure total mutation burden and performed error-corrected sequencing on a panel of 46 genes on 80 patients with congenital neutropenia to assess for clonal hematopoiesis. An average of 3.6 ± 1.2 somatic mutations per exome …


High Levels Of Dek Autoantibodies In Sera Of Patients With Polyarticular Juvenile Idiopathic Arthritis And With Early Disease Flares Following Cessation Of Anti–Tumor Necrosis Factor Therapy, N. Mor-Vaknin, M. Rivas, M. Legendre, S. Mohan, Y. Yuanfan, T. Mau, A. Johnson, B. Huang, B. S. Gottlieb, D. M. Markovitz, +17 Additional Authors Jan 2018

High Levels Of Dek Autoantibodies In Sera Of Patients With Polyarticular Juvenile Idiopathic Arthritis And With Early Disease Flares Following Cessation Of Anti–Tumor Necrosis Factor Therapy, N. Mor-Vaknin, M. Rivas, M. Legendre, S. Mohan, Y. Yuanfan, T. Mau, A. Johnson, B. Huang, B. S. Gottlieb, D. M. Markovitz, +17 Additional Authors

Journal Articles

© 2017 The Authors. Arthritis & Rheumatology published by Wiley Periodicals, Inc. on behalf of American College of Rheumatology. Objective: The nuclear oncoprotein DEK is an autoantigen associated with juvenile idiopathic arthritis (JIA), especially the oligoarticular subtype. DEK is a secreted chemotactic factor. Abundant levels of DEK and DEK autoantibodies are found in inflamed synovium in JIA. We undertook this study to further characterize the nature of DEK autoantibodies in screening serum samples from 2 different cohorts that consisted mostly of patients with JIA. Methods: DEK autoantibody levels were analyzed in sera from 33 JIA patients, 13 patients with other …


Long Ncrna Landscape In The Ileum Of Treatment-Naive Early-Onset Crohn Disease., Y. Haberman, M. Benshoshan, A. Di Segni, P. J. Dexheimer, T. Braun, B. Weiss, T. D. Walters, R. N. Baldassano, J. Markowitz, L. A. Denson, +27 Additional Authors Jan 2018

Long Ncrna Landscape In The Ileum Of Treatment-Naive Early-Onset Crohn Disease., Y. Haberman, M. Benshoshan, A. Di Segni, P. J. Dexheimer, T. Braun, B. Weiss, T. D. Walters, R. N. Baldassano, J. Markowitz, L. A. Denson, +27 Additional Authors

Journal Articles

Long noncoding RNAs (lncRNA) are key regulators of gene transcription and many show tissue-specific expression. We previously defined a novel inflammatory and metabolic ileal gene signature in treatment-naive pediatric Crohn disease (CD). We now extend our analyses to include potential regulatory lncRNA.Using RNAseq, we systematically profiled lncRNAs and protein-coding gene expression in 177 ileal biopsies. Co-expression analysis was used to identify functions and tissue-specific expression. RNA in situ hybridization was used to validate expression. Real-time polymerase chain reaction was used to test lncRNA regulation by IL-1β in Caco-2 enterocytes.We characterize widespread dysregulation of 459 lncRNAs in the ileum of CD …


Association Of Early Postresuscitation Hypotension With Survival To Discharge After Targeted Temperature Management For Pediatric Out-Of-Hospital Cardiac Arrest Secondary Analysis Of A Randomized Clinical Trial, A. A. Topjian, F. W. Moler, R. Telford, R. Holubkov, V. M. Nadkarni, R. A. Berg, J. M. Dean, K. L. Meert, C. L. Schleien, B. Browning, +34 Additional Authors Jan 2018

Association Of Early Postresuscitation Hypotension With Survival To Discharge After Targeted Temperature Management For Pediatric Out-Of-Hospital Cardiac Arrest Secondary Analysis Of A Randomized Clinical Trial, A. A. Topjian, F. W. Moler, R. Telford, R. Holubkov, V. M. Nadkarni, R. A. Berg, J. M. Dean, K. L. Meert, C. L. Schleien, B. Browning, +34 Additional Authors

Journal Articles

© 2017 American Medical Association. All rights reserved. IMPORTANCE Out-of-hospital cardiac arrest (OHCA) occurs in more than 6000 children each year in the United States, with survival rates of less than 10% and severe neurologic morbidity in many survivors. Post-cardiac arrest hypotension can occur, but its frequency and association with survival have not been well described duringtargeted temperature management. OBJECTIVE To determine whether hypotension is associated with survival to discharge in children and adolescents after resuscitation from OHCA. DESIGN, SETTING, AND PARTICIPANTS This post hoc secondary analysis of the Therapeutic Hypothermia After Pediatric Cardiac Arrest (THAPCA) trial included 292 pediatric …


The New Mobile Universal Lexicon Evaluation System (Mules): A Test Of Rapid Picture Naming For Concussion Sized For The Sidelines, O. Akhand, M. S. Galetta, L. Cobbs, L. Hasanaj, N. Webb, J. Drattell, P. Amorapanth, J. R. Rizzo, A. Silverio, L. J. Balcer, +6 Additional Authors Jan 2018

The New Mobile Universal Lexicon Evaluation System (Mules): A Test Of Rapid Picture Naming For Concussion Sized For The Sidelines, O. Akhand, M. S. Galetta, L. Cobbs, L. Hasanaj, N. Webb, J. Drattell, P. Amorapanth, J. R. Rizzo, A. Silverio, L. J. Balcer, +6 Additional Authors

Journal Articles

© 2018 Objective: Measures of rapid automatized naming (RAN) have been used for over 50 years to capture vision-based aspects of cognition. The Mobile Universal Lexicon Evaluation System (MULES) is a test of rapid picture naming under investigation for detection of concussion and other neurological disorders. MULES was designed as a series of 54 grouped color photographs (fruits, random objects, animals) that integrates saccades, color perception and contextual object identification. Recent changes to the MULES test have been made to improve ease of use on the athletic sidelines. Originally an 11 × 17-inch single-sided paper, the test has been reduced …


Effects Of Soybean Lipid Infusion On Triglyceride And Unbound Free Fatty Acid Levels In Preterm Infants, T. Hegyi, A. Kleinfeld, A. Huber, B. Weinberger, N. Memon, W. Joe Shih, M. Carayannopoulos, W. Oh Jan 2018

Effects Of Soybean Lipid Infusion On Triglyceride And Unbound Free Fatty Acid Levels In Preterm Infants, T. Hegyi, A. Kleinfeld, A. Huber, B. Weinberger, N. Memon, W. Joe Shih, M. Carayannopoulos, W. Oh

Journal Articles

© 2018 Informa UK Limited, trading as Taylor & Francis Group Objective: To determine the plasma triglyceride (TG) and unbound free fatty acid (FFAu) levels in infants treated with increasing dosages of soybean lipid, intralipid (IL), infusion. Study design: TG and FFAu levels were measured in 78 preterm infants (BW 500–2000 g; GA 23–34 weeks) using the fluorescent probe ADIFAB2 and enzymatic method. Results: The infants’ BW was 1266.2 ± 440.7 g and GA 28.8 ± 3.1 weeks. TG levels were 77.4 ± 50 mg/dL, 140.2 ± 188 mg/dL (p < .04 compared to levels during low dose IL infusion) and 135.6 ± 118 mg/dL (p < .004), respectively during increased IL rates. FFAu levels were 17.7 ± 13 nM, 47.3 ± 102.8 nM (p = .07) and 98 ± 234 nM (p = .03). TG levels correlated with IL dose, the rate of IL administration, and FFAu levels. TG and FFAu levels were higher in infants below 28 weeks’ gestation Conclusions: Increasing dosage of IL is associated with increasing levels of TG and FFAu, especially in infants below 29 weeks of gestation. The increased level of FFAu suggests inefficient cellular utilization.


New-Onset Isolated Asymptomatic Papilledema In Two Patients Treated With Recombinant Growth Hormone, L. A. Kanner, J. Klein, M. Gaffar, H. Pomeranz, G. Frank Jan 2018

New-Onset Isolated Asymptomatic Papilledema In Two Patients Treated With Recombinant Growth Hormone, L. A. Kanner, J. Klein, M. Gaffar, H. Pomeranz, G. Frank

Journal Articles

No abstract provided.


Interindividual Regulation Of The Breast Cancer Resistance Protein/Abcg2 Transporter In Term Human Placentas, K. M. Bircsak, J. E. Moscovitz, X. Wen, F. Archer, P. Y. Yuen, M. Mohammed, N. Memon, B. I. Weinberger, L. M. Saba, L. M. Aleksunes, +1 Additional Author Jan 2018

Interindividual Regulation Of The Breast Cancer Resistance Protein/Abcg2 Transporter In Term Human Placentas, K. M. Bircsak, J. E. Moscovitz, X. Wen, F. Archer, P. Y. Yuen, M. Mohammed, N. Memon, B. I. Weinberger, L. M. Saba, L. M. Aleksunes, +1 Additional Author

Journal Articles

© 2018 by The American Society for Pharmacology and Experimental Therapeutics The breast cancer resistance protein (BCRP/ABCG2) is a maternally-facing efflux transporter that regulates the placental disposition of chemicals. Transcription factors and gene variants are important regulatory factors that influence transporter expression. In this study, we sought to identify the genetic and transcriptional mechanisms underlying the interindividual expression of BCRP mRNA and protein across 137 term placentas from uncomplicated pregnancies. Placental expression of BCRP and regulatory transcription factor mRNAs was measured using multiplex-branched DNA analysis. BCRP expression and ABCG2 genotypes were determined using Western blot and Fluidigm Biomark genetic analysis, …


Serologic Reactivity Reflects Clinical Expression Of Ulcerative Colitis In Children, E. A. Spencer, S. M. Davis, D. R. Mack, B. M. Boyle, A. M. Griffiths, N. S. Leleiko, C. G. Sauer, D. J. Keljo, J. F. Markowitz, M. C. Dubinsky, +26 Additional Authors Jan 2018

Serologic Reactivity Reflects Clinical Expression Of Ulcerative Colitis In Children, E. A. Spencer, S. M. Davis, D. R. Mack, B. M. Boyle, A. M. Griffiths, N. S. Leleiko, C. G. Sauer, D. J. Keljo, J. F. Markowitz, M. C. Dubinsky, +26 Additional Authors

Journal Articles

© 2018 Crohn's & Colitis Foundation. Published by Oxford University Press. All rights reserved. Background In contrast to pediatric Crohn's disease (CD), little is known in pediatric ulcerative colitis (UC) about the relationship between disease phenotype and serologic reactivity to microbial and other antigens. Aim The aim of this study was to examine disease phenotype and serology in a well-characterized inception cohort of children newly diagnosed with UC during the PROTECT Study (Predicting Response to Standardized Pediatric Colitis Therapy). Methods Patients were recruited from 29 participating centers. Demographic, clinical, laboratory, and serologic (pANCA, ASCA IgA/IgG, Anti-CBir1, and Anti-OmpC) data were …


Vaginal Discharge In A Pre-Pubertal Girl Posing A Diagnostic Challenge., S. Ganguli, Q. Liu, A. Tsoumpariotis, S. Rapaport, E. Fakioglu Jan 2018

Vaginal Discharge In A Pre-Pubertal Girl Posing A Diagnostic Challenge., S. Ganguli, Q. Liu, A. Tsoumpariotis, S. Rapaport, E. Fakioglu

Journal Articles

Vaginal discharge in prepubescent girls is not an uncommon problem in pediatric outpatient practice. Among its various etiologies, foreign body lodgement is quite frequent in this age group. Diagnosis is sometimes forthcoming after history and physical exam, and the removal of the foreign object is followed by a prompt resolution of symptoms. However, in rare circumstances, an intravaginal foreign body may mimic other pathologies, including infections and neoplasms, as well as raising suspicion for child abuse. In such cases, diagnosis may remain unclear even after laboratory tests and imaging studies. We describe a seven-year-old girl with vaginal discharge, who needed …


Exome Chip Analyses Identify Genes Affecting Mortality After Hla-Matched Unrelated-Donor Blood And Marrow Transplantation, Q. Zhu, L. Yan, Q. Liu, C. Zhang, L. Wei, Q. Hu, L. Preus, A. I. Clay-Gilmour, K. Onel, L. E. Sucheston-Campbell, +10 Additional Authors Jan 2018

Exome Chip Analyses Identify Genes Affecting Mortality After Hla-Matched Unrelated-Donor Blood And Marrow Transplantation, Q. Zhu, L. Yan, Q. Liu, C. Zhang, L. Wei, Q. Hu, L. Preus, A. I. Clay-Gilmour, K. Onel, L. E. Sucheston-Campbell, +10 Additional Authors

Journal Articles

© 2018 by The American Society of Hematology Although survival outcomes have significantly improved, up to 40% of patients die within 1 year of HLA-matched unrelated-donor blood and marrow transplantation (BMT). To identify non-HLA genetic contributors to mortality after BMT, we performed the first exome-wide association study in the DISCOVeRY-BMT cohorts using the Illumina HumanExome BeadChip. This study includes 2473 patients with acute myeloid leukemia, acute lymphoblastic leukemia, or myelodysplastic syndrome and 2221 10/10 HLA-matched donors treated from 2000 to 2011. Single-variant and gene-level analyses were performed on overall survival (OS), transplantation-related mortality (TRM), and disease-related mortality (DRM). Genotype mismatches …


A 6-Month, Multicenter, Open-Label Study Of Fixed Dose Naproxen/Esomeprazole In Adolescent Patients With Juvenile Idiopathic Arthritis, D. J. Lovell, J. A. Dare, M. Francis-Sedlak, J. Ball, B. D. Lamoreaux, E. Von Scheven, A. Reinhardt, R. Jerath, B. Gottlieb, R. J. Holt, +6 Additional Authors Jan 2018

A 6-Month, Multicenter, Open-Label Study Of Fixed Dose Naproxen/Esomeprazole In Adolescent Patients With Juvenile Idiopathic Arthritis, D. J. Lovell, J. A. Dare, M. Francis-Sedlak, J. Ball, B. D. Lamoreaux, E. Von Scheven, A. Reinhardt, R. Jerath, B. Gottlieb, R. J. Holt, +6 Additional Authors

Journal Articles

© 2018 The Author(s). Background: Juvenile idiopathic arthritis (JIA) is an inflammatory arthritis of unknown etiology, which lasts for greater than 6 weeks with onset before 16 years of age. JIA is the most common chronic rheumatic disease in children. NSAIDs have been the mainstay of initial management with naproxen (NAP) being commonly used, but they may cause serious side effects such as gastric ulcers which can be reduced by concomitant administration of proton pump inhibitors, such as esomeprazole (ESO). Methods: Primary objective was to evaluate the safety and tolerability of 3 fixed doses of NAP/ESO in JIA patients aged …


Design And Preliminary Validation Of A Mobile Application-Based Expert System To Facilitate Repair Of Medical Equipment In Resource-Limited Health Settings, A. L. Wong, K. M. Lacob, M. G. Wilson, S. M. Zwolski, S. Acharya Jan 2018

Design And Preliminary Validation Of A Mobile Application-Based Expert System To Facilitate Repair Of Medical Equipment In Resource-Limited Health Settings, A. L. Wong, K. M. Lacob, M. G. Wilson, S. M. Zwolski, S. Acharya

Journal Articles

© 2018 Wong et al. Background: One of the greatest barriers to safe surgery is the availability of functional biomedical equipment. Biomedical technicians play a major role in ensuring that equipment is functional. Following in-field observations and an online survey, a mobile application was developed to aid technicians in troubleshooting biomedical equipment. It was hypothesized that this application could be used to aid technicians in equipment repair, as modeled by repair of a pulse oximeter. Methods: To identify specific barriers to equipment repair and maintenance for biomedical technicians, an online survey was conducted to determine current practices and challenges. These …


Free And Bioavailable 25-Hydroxyvitamin D Concentrations Are Associated With Disease Activity In Pediatric Patients With Newly Diagnosed Treatment Naive Ulcerative Colitis, C. G. Sauer, M. S. Loop, S. Venkateswaran, V. Tangpricha, T. R. Ziegler, A. Dhawan, C. Mccall, E. Bonkowski, J. Markowitz, L. A. Denson, +16 Additional Authors Jan 2018

Free And Bioavailable 25-Hydroxyvitamin D Concentrations Are Associated With Disease Activity In Pediatric Patients With Newly Diagnosed Treatment Naive Ulcerative Colitis, C. G. Sauer, M. S. Loop, S. Venkateswaran, V. Tangpricha, T. R. Ziegler, A. Dhawan, C. Mccall, E. Bonkowski, J. Markowitz, L. A. Denson, +16 Additional Authors

Journal Articles

© 2018 Crohn's & Colitis Foundation. Published by Oxford University Press. All rights reserved. Background Vitamin D regulates intestinal epithelial and immune functions, and vitamin D receptor deficiency increases the severity of murine colitis. Bioavailable 25-hydroxyvitamin D (25(OH)D) is available to target tissues and may be a driver of immune function. The aim is to evaluate the relationship of bioavailable 25(OH)D to the clinical expression of treatment naive pediatric ulcerative colitis (UC). Methods The PROTECT (Predicting Response to Standardized Pediatric Colitis Therapy) study enrolled children ≤17 years newly diagnosed with UC. Free and total 25(OH)D were directly measured and 25(OH)D …


Risk, Timing, And Predictors Of Disease Flare After Discontinuation Of Anti–Tumor Necrosis Factor Therapy In Children With Polyarticular Forms Of Juvenile Idiopathic Arthritis With Clinically Inactive Disease, D. J. Lovell, A. L. Johnson, B. Huang, B. S. Gottlieb, P. W. Morris, Y. Kimura, K. Onel, S. C. Li, B. A. Eberhard, E. H. Giannini, +34 Additional Authors Jan 2018

Risk, Timing, And Predictors Of Disease Flare After Discontinuation Of Anti–Tumor Necrosis Factor Therapy In Children With Polyarticular Forms Of Juvenile Idiopathic Arthritis With Clinically Inactive Disease, D. J. Lovell, A. L. Johnson, B. Huang, B. S. Gottlieb, P. W. Morris, Y. Kimura, K. Onel, S. C. Li, B. A. Eberhard, E. H. Giannini, +34 Additional Authors

Journal Articles

© 2018, American College of Rheumatology Objective: To determine the frequency, time to flare, and predictors of disease flare upon withdrawal of anti–tumor necrosis factor (anti-TNF) therapy in children with polyarticular forms of juvenile idiopathic arthritis (JIA) who demonstrated ≥6 months of continuous clinically inactive disease. Methods: In 16 centers 137 patients with clinically inactive JIA who were receiving anti-TNF therapy (42% of whom were also receiving methotrexate [MTX]) were prospectively followed up. If the disease remained clinically inactive for the initial 6 months of the study, anti-TNF was stopped and patients were assessed for flare at 1, 2, 3, …


Blood-Induced Bone Loss In Murine Hemophilic Arthropathy Is Prevented By Blocking The Irhom2/Adam17/Tnf-A Pathway, C. Haxaire, N. Hakobyan, T. Pannellini, C. Carballo, D. Mcilwain, T. W. Mak, S. Rodeo, S. Acharya, D. Li, C. P. Blobel, +5 Additional Authors Jan 2018

Blood-Induced Bone Loss In Murine Hemophilic Arthropathy Is Prevented By Blocking The Irhom2/Adam17/Tnf-A Pathway, C. Haxaire, N. Hakobyan, T. Pannellini, C. Carballo, D. Mcilwain, T. W. Mak, S. Rodeo, S. Acharya, D. Li, C. P. Blobel, +5 Additional Authors

Journal Articles

© 2018 by The American Society of Hematology. Hemophilic arthropathy (HA) is a debilitating degenerative joint disease that is a major manifestation of the bleeding disorder hemophilia A. HA typically begins with hemophilic synovitis that resembles inflammatory arthritides, such as rheumatoid arthritis, and frequently results in bone loss in patients. A major cause of rheumatoid arthritis is inappropriate release of the proinflammatory cytokine tumor necrosis factor-a (TNF-a) by the TNF-a convertase (TACE; also referred to as ADAM17) and its regulator, iRhom2. Therefore, we hypothesized that iRhom2/ADAM17-dependent shedding of TNF-a also has a pivotal role in mediating HA. Here, we show …


Macrophage Migration Inhibitory Factor (Mif) In The Development And Progression Of Pulmonary Arterial Hypertension., M. Ahmed, E. Miller Jan 2018

Macrophage Migration Inhibitory Factor (Mif) In The Development And Progression Of Pulmonary Arterial Hypertension., M. Ahmed, E. Miller

Journal Articles

Macrophage migration inhibitory factor (MIF) has been described as a pro-inflammatory cytokine and regulator of neuro-endocrine function. It plays an important upstream role in the inflammatory cascade by promoting the release of other inflammatory cytokines such as TNF-alpha and IL-6, ultimately triggering a chronic inflammatory immune response. As lungs can synthesize and release MIF, many studies have investigated the potential role of MIF as a biomarker in assessment of patients with pulmonary arterial hypertension (PAH) and using anti-MIFs as a new therapeutic modality for PAH.


Microbiota-Sensitive Epigenetic Signature Predicts Inflammation In Crohn's Disease., D. Kelly, M. Kotliar, V. Woo, S. Jagannathan, J. Whitt, J. Moncivaiz, B. J. Aronow, M. C. Dubinsky, J. F. Markowitz, T. Alenghat, +12 Additional Authors Jan 2018

Microbiota-Sensitive Epigenetic Signature Predicts Inflammation In Crohn's Disease., D. Kelly, M. Kotliar, V. Woo, S. Jagannathan, J. Whitt, J. Moncivaiz, B. J. Aronow, M. C. Dubinsky, J. F. Markowitz, T. Alenghat, +12 Additional Authors

Journal Articles

Altered response to the intestinal microbiota strongly associates with inflammatory bowel disease (IBD); however, how commensal microbial cues are integrated by the host during the pathogenesis of IBD is not understood. Epigenetics represents a potential mechanism that could enable intestinal microbes to modulate transcriptional output during the development of IBD. Here, we reveal a histone methylation signature of intestinal epithelial cells isolated from the terminal ilea of newly diagnosed pediatric IBD patients. Genes characterized by significant alterations in histone H3-lysine 4 trimethylation (H3K4me3) showed differential enrichment in pathways involving immunoregulation, cell survival and signaling, and metabolism. Interestingly, a large subset …


Expanding The Clinical And Molecular Findings In Rasa1 Capillary Malformation-Arteriovenous Malformation, W. L. Wooderchak-Donahue, P. Johnson, J. Mcdonald, F. Blei, A. Berenstein, M. Sorscher, J. Mayer, A. E. Scheuerle, T. Lewis, P. Bayrak-Toydemir, +5 Additional Authors Jan 2018

Expanding The Clinical And Molecular Findings In Rasa1 Capillary Malformation-Arteriovenous Malformation, W. L. Wooderchak-Donahue, P. Johnson, J. Mcdonald, F. Blei, A. Berenstein, M. Sorscher, J. Mayer, A. E. Scheuerle, T. Lewis, P. Bayrak-Toydemir, +5 Additional Authors

Journal Articles

No abstract provided.


Correction To: Minimum Quality Threshold In Pre-Clinical Sepsis Studies (Mqtipss): An International Expert Consensus Initiative For Improvement Of Animal Modeling In Sepsis (Infection, (2018), 10.1007/S15010-018-1183-8), M. F. Osuchowski, A. Ayala, S. Bahrami, M. Bauer, M. Boros, J. M. Cavaillon, I. H. Chaudry, C. Deutschman, P. Wang, B. Zingarelli, +21 Additional Authors Jan 2018

Correction To: Minimum Quality Threshold In Pre-Clinical Sepsis Studies (Mqtipss): An International Expert Consensus Initiative For Improvement Of Animal Modeling In Sepsis (Infection, (2018), 10.1007/S15010-018-1183-8), M. F. Osuchowski, A. Ayala, S. Bahrami, M. Bauer, M. Boros, J. M. Cavaillon, I. H. Chaudry, C. Deutschman, P. Wang, B. Zingarelli, +21 Additional Authors

Journal Articles

© 2018, The Author(s). The original version of this article unfortunately contained mistakes.


Translational Research: The Model Matters, C. S. Deutschman Jan 2018

Translational Research: The Model Matters, C. S. Deutschman

Journal Articles

No abstract provided.