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Pediatrics

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Full-Text Articles in Medicine and Health Sciences

Serum S100a8/A9 And S100a12 Levels In Children With Polyarticular Forms Of Juvenile Idiopathic Arthritis: Relationship To Maintenance Of Clinically Inactive Disease During Anti–Tumor Necrosis Factor Therapy And Occurrence Of Disease Flare After Discontinuation Of Therapy, C. H. Hinze, D. Foell, A. L. Johnson, S. J. Spalding, B. S. Gottlieb, P. W. Morris, Y. Kimura, K. Onel, S. C. Li, D. J. Lovell, +33 Additional Authors Jan 2019

Serum S100a8/A9 And S100a12 Levels In Children With Polyarticular Forms Of Juvenile Idiopathic Arthritis: Relationship To Maintenance Of Clinically Inactive Disease During Anti–Tumor Necrosis Factor Therapy And Occurrence Of Disease Flare After Discontinuation Of Therapy, C. H. Hinze, D. Foell, A. L. Johnson, S. J. Spalding, B. S. Gottlieb, P. W. Morris, Y. Kimura, K. Onel, S. C. Li, D. J. Lovell, +33 Additional Authors

Journal Articles

© 2018, American College of Rheumatology Objective: To determine the relationship between serum levels of S100A8/A9 and S100A12 and the maintenance of clinically inactive disease during anti–tumor necrosis factor (anti-TNF) therapy and the occurrence of disease flare following withdrawal of anti-TNF therapy in patients with polyarticular forms of juvenile idiopathic arthritis (JIA). Methods: In this prospective, multicenter study, 137 patients with polyarticular-course JIA whose disease was clinically inactive while receiving anti-TNF therapy were enrolled. Patients were observed for an initial 6-month phase during which anti-TNF treatment was continued. For those patients who maintained clinically inactive disease over the 6 ...


Persistent Cloaca And Caudal Duplication In A Monovular Twin, A Rare Case Report, N. Cohen, M. N. Ahmed, R. Goldfischer, N. Zaghloul Jan 2019

Persistent Cloaca And Caudal Duplication In A Monovular Twin, A Rare Case Report, N. Cohen, M. N. Ahmed, R. Goldfischer, N. Zaghloul

Journal Articles

© 2019 Introduction: A cloaca occurs when genitourinary tract and bowel converge into a common channel. We report a case of partial caudal duplication, persistent cloaca and vestigial appendage in a monovular female twin infant. Presentation of case: This is a monochorinonic-diamniotic twin born at 36 weeks with apgars of 9/9. She had a duplicated labia with two clitorises, and a partially formed accessory foot with 2 toes protruding from the right gluteal region. There was anal atresia and a punctate urethral opening in the right genitalia through which she voided spontaneously. X-ray of the accessory foot had rudimentary metatarsals ...


Ampa Receptor Glua2 Subunit Defects Are A Cause Of Neurodevelopmental Disorders, V. Salpietro, C. L. Dixon, H. Guo, O. D. Bello, J. Vandrovcova, S. Efthymiou, R. Maroofian, S. Chen, L. Pisani, F. Madia, +90 Additional Authors Jan 2019

Ampa Receptor Glua2 Subunit Defects Are A Cause Of Neurodevelopmental Disorders, V. Salpietro, C. L. Dixon, H. Guo, O. D. Bello, J. Vandrovcova, S. Efthymiou, R. Maroofian, S. Chen, L. Pisani, F. Madia, +90 Additional Authors

Journal Articles

© 2019, The Author(s). AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant ...


A Prospective Investigation Of Interleukin-8 Levels In Pediatric Acute Respiratory Failure And Acute Respiratory Distress Syndrome, H. Flori, A. Sapru, M. W. Quasney, G. Gildengorin, M. A. Curley, M. A. Matthay, M. K. Dahmer, S. T. Bateman, J. B. Schneider, D. Wypij, +20 Additional Authors Jan 2019

A Prospective Investigation Of Interleukin-8 Levels In Pediatric Acute Respiratory Failure And Acute Respiratory Distress Syndrome, H. Flori, A. Sapru, M. W. Quasney, G. Gildengorin, M. A. Curley, M. A. Matthay, M. K. Dahmer, S. T. Bateman, J. B. Schneider, D. Wypij, +20 Additional Authors

Journal Articles

© 2019 The Author(s). Background: The association of plasma interleukin-8 (IL-8), or IL-8 genetic variants, with pediatric acute respiratory distress syndrome (PARDS) in children with acute respiratory failure at risk for PARDS has not been examined. The purpose of this study was to examine the association of early and sequential measurement of plasma IL-8 and/or its genetic variants with development of PARDS and other clinical outcomes in mechanically ventilated children with acute respiratory failure. Methods: This was a prospective cohort study of children 2 weeks to 17 years of age with acute airways and/or parenchymal lung disease done ...


Plasma Zonulin Levels In Childhood Nephrotic Syndrome, H. Trachtman, D. S. Gipson, K. V. Lemley, J. P. Troost, C. Faul, D. J. Morrison, S. M. Vento, D. H. Ahn, C. Sethna, C. Avila-Casado, +90 Additional Authors Jan 2019

Plasma Zonulin Levels In Childhood Nephrotic Syndrome, H. Trachtman, D. S. Gipson, K. V. Lemley, J. P. Troost, C. Faul, D. J. Morrison, S. M. Vento, D. H. Ahn, C. Sethna, C. Avila-Casado, +90 Additional Authors

Journal Articles

© 2019 Trachtman, Gipson, Lemley, Troost, Faul, Morrison, Vento, Ahn and Goldberg. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. Objective: We conducted this study to test the hypothesis that plasma zonulin levels are elevated in pediatric patients with nephrotic ...


Correlates Of Genetic Attributions Among Parents Of Children In The Usa With Developmental Disabilities, B. Kiely, S. Vettam, A. Adesman Jan 2019

Correlates Of Genetic Attributions Among Parents Of Children In The Usa With Developmental Disabilities, B. Kiely, S. Vettam, A. Adesman

Journal Articles

© 2019 Kiely et al. php and incorporate. Introduction: As technologies for identifying causal genetic variants in children with autism spectrum disorders (ASD) and other developmental conditions continue to advance, there is a need to understand the factors that influence parental beliefs about the causes of their child’s disabilities. This study assessed the correlates of etiologic attributions among US parents of children with ASD, intellectual disability (ID), and/or developmental delay (DD). Methods: Data were obtained from the Centers for Disease Control and Prevention’s nationally representative Survey of Pathways to Diagnosis and Services. Respondents were classified according to whether ...


Homozygous Nlrp1 Gain-Of-Function Mutation In Siblings With A Syndromic Form Of Recurrent Respiratory Papillomatosis, S. B. Drutman, F. Haerynck, F. L. Zhong, D. Hum, N. J. Hernandez, S. Belkaya, F. Rapaport, S. J. De Jong, V. R. Bonagura, J. Laurent-Casanova, +13 Additional Authors Jan 2019

Homozygous Nlrp1 Gain-Of-Function Mutation In Siblings With A Syndromic Form Of Recurrent Respiratory Papillomatosis, S. B. Drutman, F. Haerynck, F. L. Zhong, D. Hum, N. J. Hernandez, S. Belkaya, F. Rapaport, S. J. De Jong, V. R. Bonagura, J. Laurent-Casanova, +13 Additional Authors

Journal Articles

© 2019 National Academy of Sciences. All rights reserved. Juvenile-onset recurrent respiratory papillomatosis (JRRP) is a rare and debilitating childhood disease that presents with recurrent growth of papillomas in the upper airway. Two common human papillomaviruses (HPVs), HPV-6 and -11, are implicated in most cases, but it is still not understood why only a small proportion of children develop JRRP following exposure to these common viruses. We report 2 siblings with a syndromic form of JRRP associated with mild dermatologic abnormalities. Whole-exome sequencing of the patients revealed a private homozygous mutation in NLRP1, encoding Nucleotide-Binding Domain Leucine-Rich Repeat Family Pyrin Domain-Containing ...


Advisory Committee On Immunization Practices Recommended Immunization Schedule For Children And Adolescents Aged 18 Years Or Younger - United States, 2019, C. L. Robinson, H. Bernstein, J. R. Romero, P. Szilagyi Jan 2019

Advisory Committee On Immunization Practices Recommended Immunization Schedule For Children And Adolescents Aged 18 Years Or Younger - United States, 2019, C. L. Robinson, H. Bernstein, J. R. Romero, P. Szilagyi

Journal Articles

No abstract provided.


Emerging Medical Therapies For Congenital Adrenal Hyperplasia, P. W. Speiser Jan 2019

Emerging Medical Therapies For Congenital Adrenal Hyperplasia, P. W. Speiser

Journal Articles

© 2019 Speiser PW. Congenital adrenal hyperplasia has traditionally been treated with daily oral doses of glucocorticoids and mineralocorticoid supplements. Such therapy does not precisely replicate the adrenal cortex's circadian pattern. As a consequence, patients are intermittently overtreated or undertreated leading to growth suppression in children, excess weight gain and altered metabolism. Several new treatments are on the horizon. This article will summarize some new potential therapies as adjuncts to, or replacement for, standard therapy.


Immunosuppressive Therapy For Pediatric Aplastic Anemia: A North American Pediatric Aplastic Anemia Consortium Study., Z. R. Rogers, T. A. Nakano, T. S. Olson, A. A. Bertuch, W. Wang, A. Gillio, T. D. Coates, A. Chawla, A. Vlachos, A. Shimamura, +19 Additional Authors Jan 2019

Immunosuppressive Therapy For Pediatric Aplastic Anemia: A North American Pediatric Aplastic Anemia Consortium Study., Z. R. Rogers, T. A. Nakano, T. S. Olson, A. A. Bertuch, W. Wang, A. Gillio, T. D. Coates, A. Chawla, A. Vlachos, A. Shimamura, +19 Additional Authors

Journal Articles

Quality of response to immunosuppressive therapy and long-term outcomes for pediatric severe aplastic anemia remain incompletely characterized. Contemporary evidence to inform treatment of relapsed or refractory severe aplastic anemia for pediatric patients is also limited. The clinical features and outcomes for 314 children treated from 2002 to 2014 with immunosuppressive therapy for acquired severe aplastic anemia were analyzed retrospectively from 25 institutions in the North American Pediatric Aplastic Anemia Consortium. The majority of subjects (n=264) received horse anti-thymocyte globulin (hATG) plus cyclosporine (CyA) with a median 61 months follow up. Following hATG/CyA, 71.2% (95%CI: 65.3 ...


Sr-B1 Drives Endothelial Cell Ldl Transcytosis Via Dock4 To Promote Atherosclerosis, L. Huang, K. L. Chambliss, X. Gao, I. S. Yuhanna, E. Behling-Kelly, S. Bergaya, M. Ahmed, P. Michaely, K. Luby-Phelps, P. W. Shaul, +5 Additional Authors Jan 2019

Sr-B1 Drives Endothelial Cell Ldl Transcytosis Via Dock4 To Promote Atherosclerosis, L. Huang, K. L. Chambliss, X. Gao, I. S. Yuhanna, E. Behling-Kelly, S. Bergaya, M. Ahmed, P. Michaely, K. Luby-Phelps, P. W. Shaul, +5 Additional Authors

Journal Articles

© 2019, The Author(s), under exclusive licence to Springer Nature Limited. Atherosclerosis, which underlies life-threatening cardiovascular disorders such as myocardial infarction and stroke1, is initiated by passage of low-density lipoprotein (LDL) cholesterol into the artery wall and its engulfment by macrophages, which leads to foam cell formation and lesion development2,3. It is unclear how circulating LDL enters the artery wall to instigate atherosclerosis. Here we show in mice that scavenger receptor class B type 1 (SR-B1) in endothelial cells mediates the delivery of LDL into arteries and its accumulation by artery wall macrophages, thereby promoting atherosclerosis. LDL particles are ...


Hydroxyurea For Children With Sickle Cell Anemia In Sub-Saharan Africa, L. Tshilolo, G. Tomlinson, T. N. Williams, B. Santos, P. Olupot-Olupot, A. Lane, B. Aygun, S. E. Stuber, K. Mcelhinney, +59 Additional Authors Jan 2019

Hydroxyurea For Children With Sickle Cell Anemia In Sub-Saharan Africa, L. Tshilolo, G. Tomlinson, T. N. Williams, B. Santos, P. Olupot-Olupot, A. Lane, B. Aygun, S. E. Stuber, K. Mcelhinney, +59 Additional Authors

Journal Articles

No abstract provided.


Ulcerative Colitis Mucosal Transcriptomes Reveal Mitochondriopathy And Personalized Mechanisms Underlying Disease Severity And Treatment Response, Y. Haberman, R. Karns, P. J. Dexheimer, M. Schirmer, J. Somekh, I. Jurickova, T. Braun, E. Novak, J. Markowitz, L. A. Denson, +32 Additional Authors Jan 2019

Ulcerative Colitis Mucosal Transcriptomes Reveal Mitochondriopathy And Personalized Mechanisms Underlying Disease Severity And Treatment Response, Y. Haberman, R. Karns, P. J. Dexheimer, M. Schirmer, J. Somekh, I. Jurickova, T. Braun, E. Novak, J. Markowitz, L. A. Denson, +32 Additional Authors

Journal Articles

© 2019, The Author(s). Molecular mechanisms driving disease course and response to therapy in ulcerative colitis (UC) are not well understood. Here, we use RNAseq to define pre-treatment rectal gene expression, and fecal microbiota profiles, in 206 pediatric UC patients receiving standardised therapy. We validate our key findings in adult and paediatric UC cohorts of 408 participants. We observe a marked suppression of mitochondrial genes and function across cohorts in active UC, and that increasing disease severity is notable for enrichment of adenoma/adenocarcinoma and innate immune genes. A subset of severity genes improves prediction of corticosteroid-induced remission in the ...


Author Correction: Chd3 Helicase Domain Mutations Cause A Neurodevelopmental Syndrome With Macrocephaly And Impaired Speech And Language., L. S. Blok, J. Rousseau, J. Twist, S. Ehresmann, M. Takaku, H. Venselaar, L. H. Rodan, M. G. Bialer, C. Moore, M. Blyth, +90 Additional Authors Jan 2019

Author Correction: Chd3 Helicase Domain Mutations Cause A Neurodevelopmental Syndrome With Macrocephaly And Impaired Speech And Language., L. S. Blok, J. Rousseau, J. Twist, S. Ehresmann, M. Takaku, H. Venselaar, L. H. Rodan, M. G. Bialer, C. Moore, M. Blyth, +90 Additional Authors

Journal Articles

© 2019, The Author(s). The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.


Psychosocial Screening In Disorders/Differences Of Sex Development: Psychometric Evaluation Of The Psychosocial Assessment Tool, M. M. Ernst, M. Gardner, C. A. Mara, E. C. Délot, P. Y. Fechner, M. Fox, M. M. Rutter, P. W. Speiser, C. Foley, B. Yashar, +24 Additional Authors Jan 2019

Psychosocial Screening In Disorders/Differences Of Sex Development: Psychometric Evaluation Of The Psychosocial Assessment Tool, M. M. Ernst, M. Gardner, C. A. Mara, E. C. Délot, P. Y. Fechner, M. Fox, M. M. Rutter, P. W. Speiser, C. Foley, B. Yashar, +24 Additional Authors

Journal Articles

© 2019 S. Karger AG, Basel. Background/Aims: Utilization of a psychosocial screener to identify families affected by a disorder/difference of sex development (DSD) and at risk for adjustment challenges may facilitate efficient use of team resources to optimize care. The Psychosocial Assessment Tool (PAT) has been used in other pediatric conditions. The current study explored the reliability and validity of the PAT (modified for use within the DSD population; PAT-DSD). Methods: Participants were 197 families enrolled in the DSD-Translational Research Network (DSD-TRN) who completed a PAT-DSD during a DSD clinic visit. Psychosocial data were extracted from the DSD-TRN clinical ...


Prevalence Of Cardiovascular Disease Risk Factors In Childhood Glomerular Diseases, I. F. Ashoor, S. A. Mansfield, M. M. O'Shaughnessy, R. S. Parekh, J. Zee, T. L. Vasylyeva, A. J. Kogon, C. B. Sethna, L. M. Guay-Woodford, +170 Additional Authors Jan 2019

Prevalence Of Cardiovascular Disease Risk Factors In Childhood Glomerular Diseases, I. F. Ashoor, S. A. Mansfield, M. M. O'Shaughnessy, R. S. Parekh, J. Zee, T. L. Vasylyeva, A. J. Kogon, C. B. Sethna, L. M. Guay-Woodford, +170 Additional Authors

Journal Articles

No abstract provided.


Quantitative Human Immunodeficiency Virus (Hiv)-1 Antibodies Correlate With Plasma Hiv-1 Rna And Cell-Associated Dna Levels In Children On Antiretroviral Therapy, M. Mcmanus, J. Henderson, A. Gautam, R. Brody, E. R. Weiss, D. Persaud, E. Mick, K. Luzuriaga, V. Bonagura, I. Febo, +22 Additional Authors Jan 2019

Quantitative Human Immunodeficiency Virus (Hiv)-1 Antibodies Correlate With Plasma Hiv-1 Rna And Cell-Associated Dna Levels In Children On Antiretroviral Therapy, M. Mcmanus, J. Henderson, A. Gautam, R. Brody, E. R. Weiss, D. Persaud, E. Mick, K. Luzuriaga, V. Bonagura, I. Febo, +22 Additional Authors

Journal Articles

No abstract provided.


Text Messaging For Disease Monitoring In Childhood Nephrotic Syndrome, C. S. Wang, J. P. Troost, L. A. Greenbaum, T. Srivastava, K. Reidy, K. Gibson, H. Trachtman, J. D. Piette, C. B. Sethna, D. S. Gipson, +12 Additional Authors Jan 2019

Text Messaging For Disease Monitoring In Childhood Nephrotic Syndrome, C. S. Wang, J. P. Troost, L. A. Greenbaum, T. Srivastava, K. Reidy, K. Gibson, H. Trachtman, J. D. Piette, C. B. Sethna, D. S. Gipson, +12 Additional Authors

Journal Articles

© 2019 International Society of Nephrology Introduction: There is limited information on effective disease monitoring for prompt interventions in childhood nephrotic syndrome. We examined the feasibility and effectiveness of a novel text messaging system (SMS) for disease monitoring in a multicenter, prospective study. Methods: A total of 127 patients results, symptoms, and medication adherence were sent to a designated caregiver (n = 116) or adolescent patient (n = 3). Participants responded by texting. Feasibility of SMS was assessed by SMS adoption, retention, and engagement, and concordance between participant-reported results and laboratory/clinician assessments. The number of disease relapses and time-to-remission data captured by ...


De Novo Interstitial Deletion Of 9q In A Pediatric Patient With Global Developmental Delay., D. Keselman, R. Singh, N. Cohen, Z. Fefer Jan 2019

De Novo Interstitial Deletion Of 9q In A Pediatric Patient With Global Developmental Delay., D. Keselman, R. Singh, N. Cohen, Z. Fefer

Journal Articles

Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. The authors report on a child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33q22.31 detected by aCGH. The patient that the authors report here is noteworthy in that she presented with GDD and her interstitial deletion is not inclusive of the 9q22.32 locus that includes the PTCH1 gene, which is implicated in Gorlin syndrome ...


Demographics And Anthropometrics Impact Benefits Of Health Intervention: Data From The Reduce Obesity And Diabetes Project., L. Ostrowski, P. W. Speiser, S. Accacha, L. Altshuler, I. Fennoy, B. Lowell, R. Rapaport, W. Rosenfeld, S. P. Shelov, Road Group, +2 Additional Authors Jan 2019

Demographics And Anthropometrics Impact Benefits Of Health Intervention: Data From The Reduce Obesity And Diabetes Project., L. Ostrowski, P. W. Speiser, S. Accacha, L. Altshuler, I. Fennoy, B. Lowell, R. Rapaport, W. Rosenfeld, S. P. Shelov, Road Group, +2 Additional Authors

Journal Articles

Objective:To determine the efficacy of a 4-month school-based health, nutrition and exercise intervention on body fatness and examine possible effects of demographic and anthropometric covariates. Methods:Height, weight, waist circumference and body composition were measured in a diverse population of 644 NYC middle school students (mean ± SD age 12.7 ± 0.9 years; 46% male; 38% Hispanic, 17% East Asian, 15% South Asian, 13.5% African American, 8.5% Caucasian, 8% other) during the fall and spring semesters. Year 1 participants (n = 322) were controls. Experimental participants (year 2, n = 469) received a 12-session classroom-based health and nutrition educational ...


Caffeine Inhibits Hypoxia-Induced Nuclear Accumulation In Hif-1Α And Promotes Neonatal Neuronal Survival, H. L. Li, N. Zaghloul, I. Ahmed, A. Omelchenko, B. L. Firestein, H. Huang, L. Collins Jan 2019

Caffeine Inhibits Hypoxia-Induced Nuclear Accumulation In Hif-1Α And Promotes Neonatal Neuronal Survival, H. L. Li, N. Zaghloul, I. Ahmed, A. Omelchenko, B. L. Firestein, H. Huang, L. Collins

Journal Articles

© 2019 The Authors Apnea of prematurity (AOP) defined as cessation of breathing for 15–20 s, is commonly seen in preterm infants. Caffeine is widely used to treat AOP due to its safety and effectiveness. Caffeine releases respiratory arrest by competing with adenosine for binding to adenosine A 1 and A 2A receptors (A 1 R and A 2A R). Long before its use in treating AOP, caffeine has been used as a psychostimulant in adult brains. However, the effect of caffeine on developing brains remains unclear. We found that A 1 R proteins for caffeine binding were expressed in ...


Delays To Care In Pediatric Lupus Patients: Data From The Childhood Arthritis And Rheumatology Research Alliance Legacy Registry., Tamar B Rubinstein, Wenzhu B Mowrey, Norman T Ilowite, Dawn M Wahezi, L. Abramson, E. Anderson, M. Andrew, N. Battle, J. Chang, B. Gottlieb, +90 Additional Authors Jan 2018

Delays To Care In Pediatric Lupus Patients: Data From The Childhood Arthritis And Rheumatology Research Alliance Legacy Registry., Tamar B Rubinstein, Wenzhu B Mowrey, Norman T Ilowite, Dawn M Wahezi, L. Abramson, E. Anderson, M. Andrew, N. Battle, J. Chang, B. Gottlieb, +90 Additional Authors

Journal Articles

OBJECTIVE: Prompt treatment for lupus is important to prevent morbidity. A potential barrier to early treatment of pediatric lupus is delayed presentation to a pediatric rheumatologist. To better understand factors contributing to delayed presentation among pediatric lupus patients, we examined differences in demographic and clinical characteristics of lupus patients within the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Legacy Registry with regard to time between symptom onset and presentation to a pediatric rheumatologist.

METHODS: We analyzed data from 598 CARRA Legacy Registry participants for differences between those who presented early (withinonset), between 1-3 months (typical presentation), with moderate delays (3-12 ...


An Eqtl Landscape Of Kidney Tissue In Human Nephrotic Syndrome, C. E. Gillies, R. Putler, R. Menon, E. Otto, K. Yasutake, V. Nair, P. Hoover, D. Lieb, C. Sethna, K. Abbott, +89 Additional Authors Jan 2018

An Eqtl Landscape Of Kidney Tissue In Human Nephrotic Syndrome, C. E. Gillies, R. Putler, R. Menon, E. Otto, K. Yasutake, V. Nair, P. Hoover, D. Lieb, C. Sethna, K. Abbott, +89 Additional Authors

Journal Articles

© 2018 American Society of Human Genetics Expression quantitative trait loci (eQTL) studies illuminate the genetics of gene expression and, in disease research, can be particularly illuminating when using the tissues directly impacted by the condition. In nephrology, there is a paucity of eQTL studies of human kidney. Here, we used whole-genome sequencing (WGS) and microdissected glomerular (GLOM) and tubulointerstitial (TI) transcriptomes from 187 individuals with nephrotic syndrome (NS) to describe the eQTL landscape in these functionally distinct kidney structures. Using MatrixEQTL, we performed cis-eQTL analysis on GLOM (n = 136) and TI (n = 166). We used the Bayesian “Deterministic Approximation of ...


Somatic Mosaicism Of An Intragenic Fancb Duplication In Both Fibroblast And Peripheral Blood Cells Observed In A Fanconi Anemia Patient Leads To Milder Phenotype, R. S. Asur, D. C. Kimble, F. P. Lach, M. Jung, F. X. Donovan, A. Kamat, R. J. Noonan, J. W. Thomas, A. Vlachos, S. C. Chandrasekharappa, +4 Additional Authors Jan 2018

Somatic Mosaicism Of An Intragenic Fancb Duplication In Both Fibroblast And Peripheral Blood Cells Observed In A Fanconi Anemia Patient Leads To Milder Phenotype, R. S. Asur, D. C. Kimble, F. P. Lach, M. Jung, F. X. Donovan, A. Kamat, R. J. Noonan, J. W. Thomas, A. Vlachos, S. C. Chandrasekharappa, +4 Additional Authors

Journal Articles

© 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Background: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. Methods: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB- cells ...


Business Travel-Associated Illness: A Geosentinel Analysis, L. H. Chen, K. Leder, K. A. Barbre, P. Schlagenhauf, M. Libman, J. Keystone, M. Mendelson, P. Gautret, S. Hagmann, S. Kuhn, +81 Additional Authors Jan 2018

Business Travel-Associated Illness: A Geosentinel Analysis, L. H. Chen, K. Leder, K. A. Barbre, P. Schlagenhauf, M. Libman, J. Keystone, M. Mendelson, P. Gautret, S. Hagmann, S. Kuhn, +81 Additional Authors

Journal Articles

© International Society of Travel Medicine, 2017. Published by Oxford University Press. All rights reserved. Background: Analysis of a large cohort of business travelers will help clinicians focus on frequent and serious illnesses. We aimed to describe travel-related health problems in business travelers. Methods: GeoSentinel Surveillance Network consists of 64 travel and tropical medicine clinics in 29 countries; descriptive analysis was performed on ill business travelers, defined as persons traveling for work, evaluated after international travel 1 January 1997 through 31 December 2014. Results: Among 12 203 business travelers seen 1997-2014 (14 045 eligible diagnoses), the majority (97%) were adults aged ...


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 ...


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 ...


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 ...


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 ...


Management Of Acute Pancreatitis In The Pediatric Population: A Clinical Report From The North American Society For Pediatric Gastroenterology, Hepatology And Nutrition Pancreas Committee, M. Abu-El-Haija, S. Kumar, J. A. Quiros, K. Balakrishnan, B. Barth, S. Bitton, J. F. Eisses, E. J. Foglio, V. Fox, V. D. Morinville, +14 Additional Authors Jan 2018

Management Of Acute Pancreatitis In The Pediatric Population: A Clinical Report From The North American Society For Pediatric Gastroenterology, Hepatology And Nutrition Pancreas Committee, M. Abu-El-Haija, S. Kumar, J. A. Quiros, K. Balakrishnan, B. Barth, S. Bitton, J. F. Eisses, E. J. Foglio, V. Fox, V. D. Morinville, +14 Additional Authors

Journal Articles

No abstract provided.