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Full-Text Articles in Pediatrics

Microarray Analysis Of Human Keratinocytes From Different Anatomic Sites Reveals Site-Specific Immune Signaling And Responses To Human Papillomavirus Type 16 Transfection, M. Israr, D. Rosenthal, L. Frejo-Navarro, J. Devoti, C. Meyers, V. R. Bonagura Jan 2018

Microarray Analysis Of Human Keratinocytes From Different Anatomic Sites Reveals Site-Specific Immune Signaling And Responses To Human Papillomavirus Type 16 Transfection, M. Israr, D. Rosenthal, L. Frejo-Navarro, J. Devoti, C. Meyers, V. R. Bonagura

Journal Articles

No abstract provided.


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 …


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 …


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 …


Enhanced Contribution Of Hla In Pediatric Onset Ulcerative Colitis, S. Venkateswaran, J. Prince, D. J. Cutler, U. M. Marigorta, D. T. Okou, S. Prahalad, D. Mack, B. Boyle, J. Markowitz, S. Kugathasan, +20 Additional Authors Jan 2018

Enhanced Contribution Of Hla In Pediatric Onset Ulcerative Colitis, S. Venkateswaran, J. Prince, D. J. Cutler, U. M. Marigorta, D. T. Okou, S. Prahalad, D. Mack, B. Boyle, J. Markowitz, S. Kugathasan, +20 Additional Authors

Journal Articles

© 2018 Crohn's & Colitis Foundation. Published by Oxford University Press on behalf of Crohn's & Colitis Foundation. Background The genetic contributions to pediatric onset ulcerative colitis (UC), characterized by severe disease and extensive colonic involvement, are largely unknown. In adult onset UC, Genome Wide Association Study (GWAS) has identified numerous loci, most of which have a modest susceptibility risk (OR 0.84-1.14), with the exception of the human leukocyte antigen (HLA) region on Chromosome 6 (OR 3.59). Method To study the genetic contribution to exclusive pediatric onset UC, a GWAS was performed on 466 cases with 2099 healthy controls using …


Barriers To Adherence In Juvenile Idiopathic Arthritis: A Multicenter Collaborative Experience And Preliminary Results, L. A. Favier, J. Taylor, K. L. Rich, K. B. Jones, S. S. Vora, J. G. Harris, B. S. Gottlieb, L. Robbins, J. T. Lai, A. C. Modi, +7 Additional Authors Jan 2018

Barriers To Adherence In Juvenile Idiopathic Arthritis: A Multicenter Collaborative Experience And Preliminary Results, L. A. Favier, J. Taylor, K. L. Rich, K. B. Jones, S. S. Vora, J. G. Harris, B. S. Gottlieb, L. Robbins, J. T. Lai, A. C. Modi, +7 Additional Authors

Journal Articles

© 2018. All rights reserved. Objective. Nonadherence is currently an underrecognized and potentially modifiable obstacle to care in juvenile idiopathic arthritis (JIA). The purpose of our study was to design and implement a standardized approach to identifying adherence barriers for youth with JIA across 7 pediatric rheumatology clinics through the Pediatric Rheumatology Care and Outcomes Improvement Network (PR-COIN) and to assess the frequency of adherence barriers in patients and their caregivers across treatment modalities. Methods. An iterative process using coproduction among parents and providers of patients with JIA was used to design the Barriers Assessment Tool to screen for adherence …


Increased Prevalence Of Congenital Heart Disease In Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia As A Cause Of Congenital Heart Disease In The General Population: A Report Of The Diamond Blackfan Anemia Registry., A. Vlachos, D. S. Osorio, E. Atsidaftos, J. Kang, M. L. Lababidi, H. S. Seiden, D. Gruber, B. E. Glader, K. Onel, J. M. Lipton, +6 Additional Authors Jan 2018

Increased Prevalence Of Congenital Heart Disease In Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia As A Cause Of Congenital Heart Disease In The General Population: A Report Of The Diamond Blackfan Anemia Registry., A. Vlachos, D. S. Osorio, E. Atsidaftos, J. Kang, M. L. Lababidi, H. S. Seiden, D. Gruber, B. E. Glader, K. Onel, J. M. Lipton, +6 Additional Authors

Journal Articles

No abstract provided.


A Functional Assay For The Clinical Annotation Of Genetic Variants Of Uncertain Significance In Diamond–Blackfan Anemia, A. Aspesi, M. Betti, M. Sculco, C. Actis, C. Olgasi, M. W. Wlodarski, A. Vlachos, J. M. Lipton, U. Ramenghi, I. Dianzani, +3 Additional Authors Jan 2018

A Functional Assay For The Clinical Annotation Of Genetic Variants Of Uncertain Significance In Diamond–Blackfan Anemia, A. Aspesi, M. Betti, M. Sculco, C. Actis, C. Olgasi, M. W. Wlodarski, A. Vlachos, J. M. Lipton, U. Ramenghi, I. Dianzani, +3 Additional Authors

Journal Articles

© 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc. Diamond–Blackfan anemia (DBA) is a rare genetic hypoplasia of erythroid progenitors characterized by mild to severe anemia and associated with congenital malformations. Clinical manifestations in DBA patients are quite variable and genetic testing has become a critical factor in establishing a diagnosis of DBA. The majority of DBA cases are due to heterozygous loss-of-function mutations in ribosomal protein (RP) genes. Causative mutations are fairly straightforward to identify in the case of large deletions and frameshift and nonsense mutations found early in a protein coding sequence, but diagnosis becomes more …


Minimum Quality Threshold In Pre-Clinical Sepsis Studies (Mqtipss): An International Expert Consensus Initiative For Improvement Of Animal Modeling In Sepsis, 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

Minimum Quality Threshold In Pre-Clinical Sepsis Studies (Mqtipss): An International Expert Consensus Initiative For Improvement Of Animal Modeling In Sepsis, 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). Purpose: Pre-clinical animal studies precede the majority of clinical trials. While the clinical sepsis definitions and recommended treatments are regularly updated, a systematic review of pre-clinical models of sepsis has not been done and clear modeling guidelines are lacking. To address this deficit, a Wiggers-Bernard Conference on pre-clinical sepsis modeling was held in Vienna in May, 2017. The conference goal was to identify limitations of pre-clinical sepsis models and to propose a set of guidelines, defined as the “Minimum Quality Threshold in Pre-Clinical Sepsis Studies” (MQTiPSS), to enhance translational value of these models. Methods: 31 experts …


Disparities In Utilization Of Social Determinants Of Health Referrals Among Children In Immigrant Families, O. T. Uwemedimo, H. May Jan 2018

Disparities In Utilization Of Social Determinants Of Health Referrals Among Children In Immigrant Families, O. T. Uwemedimo, H. May

Journal Articles

© 2018 Uwemedimo and May. Objective: Children in immigrant families (CIF) are at elevated risk of experiencing adverse social determinants of health (SDH), particularly material hardship, which contribute to disparate health outcomes. Previous studies have found that SDH screening programs integrated into pediatric practices have increased receipt of social service resources. Few studies have examined use of social services in these programs among ethnically-diverse patient populations and associations with caregiver immigrant status or limited English proficiency (LEP). Methods: Caregivers of children (<18 >years) were routinely screened in a practice-based, SDH screening program offering referral, assisted navigation and follow-up support. Information …


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

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

Journal Articles

Preclinical animal studies precede the majority of clinical trials. While the clinical definitions of sepsis and recommended treatments are regularly updated, a systematic review of preclinical models of sepsis has not been done and clear modeling guidelines are lacking. To address this deficit, a Wiggers-Bernard Conference on preclinical sepsis modeling was held in Vienna in May, 2017. The goal of the conference was to identify limitations of preclinical sepsis models and to propose a set of guidelines, defined as the "Minimum Quality Threshold in Preclinical Sepsis Studies" (MQTiPSS), to enhance translational value of these models. A total of 31 experts …


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

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

Journal Articles

BACKGROUND:Pre-clinical animal studies precede the majority of clinical trials. While the clinical definitions of sepsis and recommended treatments are regularly updated, a systematic review of pre-clinical models of sepsis has not been done and clear modeling guidelines are lacking. OBJECTIVE:To address this deficit, a Wiggers-Bernard Conference on pre-clinical sepsis modeling was held in Vienna in May 2017. The goal of the conference was to identify limitations of pre-clinical sepsis models and to propose a set of guidelines, defined as the "Minimum Quality Threshold in Pre-Clinical Sepsis Studies" (MQTiPSS), to enhance translational value of these models. METHODS:A total of 31 experts …


Identification, Management, And Transition Of Care For Patients With Opioid Use Disorder In The Emergency Department, H. C. Duber, I. A. Barata, E. Cioe-Pena, S. Y. Liang, E. Ketcham, W. Macias-Konstantopoulos, S. A. Ryan, M. Stavros, L. K. Whiteside Jan 2018

Identification, Management, And Transition Of Care For Patients With Opioid Use Disorder In The Emergency Department, H. C. Duber, I. A. Barata, E. Cioe-Pena, S. Y. Liang, E. Ketcham, W. Macias-Konstantopoulos, S. A. Ryan, M. Stavros, L. K. Whiteside

Journal Articles

No abstract provided.


Hyposialylated Igg Activates Endothelial Igg Receptor Fcγriib To Promote Obesity-Induced Insulin Resistance, K. Tanigaki, A. Sacharidou, J. Peng, K. L. Chambliss, I. S. Yuhanna, D. Ghosh, M. Ahmed, A. J. Szalai, W. Vongpatanasin, C. Mineo, +10 Additional Authors Jan 2018

Hyposialylated Igg Activates Endothelial Igg Receptor Fcγriib To Promote Obesity-Induced Insulin Resistance, K. Tanigaki, A. Sacharidou, J. Peng, K. L. Chambliss, I. S. Yuhanna, D. Ghosh, M. Ahmed, A. J. Szalai, W. Vongpatanasin, C. Mineo, +10 Additional Authors

Journal Articles

Type 2 diabetes mellitus (T2DM) is a common complication of obesity. Here, we have shown that activation of the IgG receptor FcγRIIB in endothelium by hyposialylated IgG plays an important role in obesity-induced insulin resistance. Despite becoming obese on a high-fat diet (HFD), mice lacking FcγRIIB globally or selectively in endothelium were protected from insulin resistance as a result of the preservation of insulin delivery to skeletal muscle and resulting maintenance of muscle glucose disposal. IgG transfer in IgG-deficient mice implicated IgG as the pathogenetic ligand for endothelial FcγRIIB in obesity-induced insulin resistance. Moreover, IgG transferred from patients with T2DM …


Impact Of The 2008 Beijing Olympics On The Risk Of Pregnancy Complications, V. Assibey-Mensah, K. Liu, S. W. Thurston, T. P. Stevens, J. Zhang, C. Kane, Y. Pan, B. Weinberger, D. Q. Rich, +2 Additional Authors Jan 2016

Impact Of The 2008 Beijing Olympics On The Risk Of Pregnancy Complications, V. Assibey-Mensah, K. Liu, S. W. Thurston, T. P. Stevens, J. Zhang, C. Kane, Y. Pan, B. Weinberger, D. Q. Rich, +2 Additional Authors

Journal Articles

Taking advantage of the natural experiment of the 2008 Beijing Olympics (August 8 to September 24), when air pollution levels decreased by 13% to 60%, the authors assessed whether having >/=1 pregnancy month during the Olympics was associated with decreased risks of hypertensive disorders (HDs) and/or fetal-placental conditions (FPCs). Singleton births to mothers with >/=1 pregnancy month in 2008 or 2009 (N = 56,155) were included. Using generalized additive models, the authors estimated the risk of HDs and FPCs associated with (1) the 2008 Olympics compared with the same dates in 2009, and (2) increased mean ambient PM10 (particulate matter …


Hydroxyurea Therapy For Children With Sickle Cell Anemia In Sub-Saharan Africa: Rationale And Design Of The Reach Trial, P. T. Mcgann, L. Tshilolo, B. Santos, G. A. Tomlinson, S. Stuber, T. Latham, B. Aygun, S. K. Obaro, P. Olupot-Olupot, R. E. Ware, +2 Additional Authors Jan 2016

Hydroxyurea Therapy For Children With Sickle Cell Anemia In Sub-Saharan Africa: Rationale And Design Of The Reach Trial, P. T. Mcgann, L. Tshilolo, B. Santos, G. A. Tomlinson, S. Stuber, T. Latham, B. Aygun, S. K. Obaro, P. Olupot-Olupot, R. E. Ware, +2 Additional Authors

Journal Articles

BACKGROUND: Sickle cell anemia (SCA) is an inherited hematological disorder that causes a large but neglected global health burden, particularly in Africa. Hydroxyurea represents the only available disease-modifying therapy for SCA, and has proven safety and efficacy in high-resource countries. In sub-Saharan Africa, there is minimal use of hydroxyurea, due to lack of data, absence of evidence-based guidelines, and inexperience among healthcare providers. PROCEDURE: A partnership was established between investigators in North America and sub-Saharan Africa, to develop a prospective multicenter research protocol designed to provide data on the safety, feasibility, and benefits of hydroxyurea for children with SCA. RESULTS: …


Hydroxycarbamide Versus Chronic Transfusion For Maintenance Of Transcranial Doppler Flow Velocities In Children With Sickle Cell Anaemia-Tcd With Transfusions Changing To Hydroxyurea (Twitch): A Multicentre, Open-Label, Phase 3, Non-Inferiority Trial, R. E. Ware, B. R. Davis, W. H. Schultz, R. C. Brown, B. Aygun, S. Sarnaik, I. Odame, B. Fuh, R. J. Adams, +36 Additional Authors Jan 2016

Hydroxycarbamide Versus Chronic Transfusion For Maintenance Of Transcranial Doppler Flow Velocities In Children With Sickle Cell Anaemia-Tcd With Transfusions Changing To Hydroxyurea (Twitch): A Multicentre, Open-Label, Phase 3, Non-Inferiority Trial, R. E. Ware, B. R. Davis, W. H. Schultz, R. C. Brown, B. Aygun, S. Sarnaik, I. Odame, B. Fuh, R. J. Adams, +36 Additional Authors

Journal Articles

BACKGROUND: For children with sickle cell anaemia and high transcranial doppler (TCD) flow velocities, regular blood transfusions can effectively prevent primary stroke, but must be continued indefinitely. The efficacy of hydroxycarbamide (hydroxyurea) in this setting is unknown; we performed the TWiTCH trial to compare hydroxyurea with standard transfusions. METHODS: TWiTCH was a multicentre, phase 3, randomised, open-label, non-inferiority trial done at 26 paediatric hospitals and health centres in the USA and Canada. We enrolled children with sickle cell anaemia who were aged 4-16 years and had abnormal TCD flow velocities (>/=200 cm/s) but no severe vasculopathy. After screening, eligible …


Non-Invasive Assessment Of Endothelial Function In Children With Obesity And Lipid Disorders, L. C. Hudgins, V. Annavajjhala, A. Kovanlikaya, M. D. Frank, A. Solomon, T. S. Parker, R. S. Cooper Jan 2016

Non-Invasive Assessment Of Endothelial Function In Children With Obesity And Lipid Disorders, L. C. Hudgins, V. Annavajjhala, A. Kovanlikaya, M. D. Frank, A. Solomon, T. S. Parker, R. S. Cooper

Journal Articles

BACKGROUND: Digital tonometry is designed to non-invasively screen for endothelial dysfunction by the detection of impaired flow-induced reactive hyperaemia in the fingertip. We determined whether digital reactive hyperaemia correlated with risk factors for atherosclerosis in two groups of children at increased risk for endothelial dysfunction. METHODS: A total of 15 obese children and 23 non-obese, dyslipidaemic children, 8-21 years of age, were enrolled, and their medical histories, anthropometric measurements, carotid wall thickness by means of ultrasonography, and fasting blood samples for cardiovascular risk factors were obtained. The standard endoPAT index of digital reactive hyperaemia was modified to reflect the true …


Organ Iron Accumulation In Chronically Transfused Children With Sickle Cell Anaemia: Baseline Results From The Twitch Trial, J. C. Wood, A. R. Cohen, S. L. Pressel, B. Aygun, H. Imran, L. Luchtman-Jones, A. A. Thompson, B. Fuh, W. H. Schultz, R. E. Ware, +1 Additional Author Jan 2016

Organ Iron Accumulation In Chronically Transfused Children With Sickle Cell Anaemia: Baseline Results From The Twitch Trial, J. C. Wood, A. R. Cohen, S. L. Pressel, B. Aygun, H. Imran, L. Luchtman-Jones, A. A. Thompson, B. Fuh, W. H. Schultz, R. E. Ware, +1 Additional Author

Journal Articles

Transcranial Doppler (TCD) With Transfusions Changing to Hydroxyurea (TWiTCH) trial is a randomized, open-label comparison of hydroxycarbamide (also termed hydroxyurea) versus continued chronic transfusion therapy for primary stroke prevention in patients with sickle cell anaemia (SCA) and abnormal TCD. Severity and location of iron overload is an important secondary outcome measure. We report the baseline findings of abdominal organ iron burden in 121 participants. At enrollment, patients were young (9.8 +/- 2.9 years), predominantly female (60:40), and previously treated with transfusions (4.1 +/- 2.4 years) and iron chelation (3.1 +/- 2.1 years). Liver iron concentration (LIC; 9.0 +/- 6.6 mg/g …


Validation Of The Lupus Nephritis Clinical Indices In Childhood-Onset Systemic Lupus Erythematosus, R. Mina, K. Abulaban, M. Klein-Gitelman, A. Eberhard, S. Ardoin, N. Singer, K. Onel, L. Tucker, K. O'Neil, H. I. Brunner, +8 Additional Authors Jan 2016

Validation Of The Lupus Nephritis Clinical Indices In Childhood-Onset Systemic Lupus Erythematosus, R. Mina, K. Abulaban, M. Klein-Gitelman, A. Eberhard, S. Ardoin, N. Singer, K. Onel, L. Tucker, K. O'Neil, H. I. Brunner, +8 Additional Authors

Journal Articles

OBJECTIVE: To validate clinical indices of lupus nephritis (LN) activity and damage when used in children against the criterion standard of kidney biopsy findings. METHODS: In 83 children requiring kidney biopsy the SLE Disease Activity Index Renal Domain (SLEDAI-R); British Isles Lupus Assessment Group index Renal Domain (BILAG-R), Systemic Lupus International Collaborating Clinics Renal Activity (SLICC-RAS) and Damage Index Renal Domain (SDI-R) were measured. Fixed effect and logistic models were done to predict International Society of Nephrology/Renal Pathology Society (ISN/RPS) class; low/moderate vs. high LN-activity [NIH Activity Index (NIH-AI) score:10; Tubulointerstitial Activity Index (TIAI) score:5) or the absence vs. presence …


Endocrine Dysfunction In Diamond-Blackfan Anemia (Dba): A Report From The Dba Registry (Dbar), A. Lahoti, Y. T. Harris, P. W. Speiser, E. Atsidaftos, J. M. Lipton, A. Vlachos Jan 2016

Endocrine Dysfunction In Diamond-Blackfan Anemia (Dba): A Report From The Dba Registry (Dbar), A. Lahoti, Y. T. Harris, P. W. Speiser, E. Atsidaftos, J. M. Lipton, A. Vlachos

Journal Articles

BACKGROUND: Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome. The mainstays of treatment involve chronic red cell transfusions, long-term glucocorticoid therapy, and stem cell transplantation. Systematic data concerning endocrine function in DBA are limited. We studied patients in the DBA Registry (DBAR) of North America to assess the prevalence of various endocrinopathies. PROCEDURE: In a pilot study, retrospective data were collected for 12 patients with DBA. Subsequently, patients with DBA aged 1-39 years were recruited prospectively. Combined, 57 patients were studied; 38 chronically transfused, 12 glucocorticoid-dependent, and seven in remission. Data were collected on anthropometric measurements, systematic …


Development Of A Novel Renal Activity Index Of Lupus Nephritis In Children & Young Adults, H. I. Brunner, M. Bennett, K. Abulaban, M. Klein-Gitelman, K. O'Neil, L. Tucker, S. Ardoin, K. Rouster-Stevens, B. A. Eberhard, P. Devarajan, +8 Additional Authors Jan 2016

Development Of A Novel Renal Activity Index Of Lupus Nephritis In Children & Young Adults, H. I. Brunner, M. Bennett, K. Abulaban, M. Klein-Gitelman, K. O'Neil, L. Tucker, S. Ardoin, K. Rouster-Stevens, B. A. Eberhard, P. Devarajan, +8 Additional Authors

Journal Articles

BACKGROUND: Noninvasive estimation of the degree of inflammation seen on kidney biopsy with lupus nephritis (LN) remains difficult. The objective of this study was to develop a Renal Activity Index for Lupus (RAIL) that, based solely on laboratory measures, accurately reflects histological LN activity. METHODS: We assayed traditional LN laboratory tests and 16 urine biomarkers (UBMs) in children (n=47) at the time of kidney biopsy. Histological LN activity was measured by the NIH Activity Index (NIH-AI) and the Tubulointerstitial Activity Index (TIAI). High LN-activity status (vs. moderate/low) was defined as NIH-AI scores > 10 (vs.5 (vs.92% accuracy and LN-activityTIAI status with …


Increased Hepcidin In Transferrin-Treated Thalassemic Mice Correlates With Increased Liver Bmp2 Expression And Decreased Hepatocyte Erk Activation, H. Chen, T. Choesang, H. Li, S. Sun, P. Pham, W. Bao, M. Feola, M. Westerman, L. Blanc, Y. Z. Ginzburg, +4 Additional Authors Jan 2016

Increased Hepcidin In Transferrin-Treated Thalassemic Mice Correlates With Increased Liver Bmp2 Expression And Decreased Hepatocyte Erk Activation, H. Chen, T. Choesang, H. Li, S. Sun, P. Pham, W. Bao, M. Feola, M. Westerman, L. Blanc, Y. Z. Ginzburg, +4 Additional Authors

Journal Articles

Iron overload results in significant morbidity and mortality in beta-thalassemic patients. Insufficient hepcidin is implicated in parenchymal iron overload in beta-thalassemia and approaches to increase hepcidin have therapeutic potential. We have previously shown that exogenous apo-transferrin markedly ameliorates ineffective erythropoiesis and increases hepcidin expression in Hbb(th1/th1) (thalassemic) mice. We utilize in vivo and in vitro systems to investigate effects of exogenous apo-transferrin on Smad and ERK1/2 signaling, pathways that participate in hepcidin regulation. Our results demonstrate that apo-transferrin increases hepcidin expression in vivo despite decreased circulating and parenchymal iron concentrations and unchanged liver Bmp6 mRNA expression in thalassemic mice. Hepatocytes …


Neurologic Recovery After An Exam Consistent With Brain Death In An Adolescent With Severe Asthma, L. B. Glater-Welt, A. D. Kessel Jan 2015

Neurologic Recovery After An Exam Consistent With Brain Death In An Adolescent With Severe Asthma, L. B. Glater-Welt, A. D. Kessel

Journal Articles

No abstract provided.


Not Just Painless Bleeding: Meckel's Diverticulum As A Cause Of Small Bowel Obstruction In Children-Two Cases And A Review Of The Literature, K. Itriyeva, M. Harris, J. Rocker, R. Gochman Jan 2015

Not Just Painless Bleeding: Meckel's Diverticulum As A Cause Of Small Bowel Obstruction In Children-Two Cases And A Review Of The Literature, K. Itriyeva, M. Harris, J. Rocker, R. Gochman

Journal Articles

Physicians are educated with the classical teaching that symptomatic patients with Meckel's diverticulum (MD) most often present with painless rectal bleeding. However, a review of the literature reveals that young patients with MD will most commonly present with signs of intestinal obstruction, an etiology not frequency considered in patients presenting to the emergency department with obstruction. We present two cases of intestinal obstruction diagnosed in our emergency department, with Meckel's diverticulum being the etiology.


First Human Treatment With Investigational Rhgus Enzyme Replacement Therapy In An Advanced Stage Mps Vii Patient, J. E. Fox, L. Volpe, J. Bullaro, E. D. Kakkis, W. S. Sly Jan 2015

First Human Treatment With Investigational Rhgus Enzyme Replacement Therapy In An Advanced Stage Mps Vii Patient, J. E. Fox, L. Volpe, J. Bullaro, E. D. Kakkis, W. S. Sly

Journal Articles

Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is a very rare lysosomal storage disease caused by a deficiency of the enzyme beta-glucuronidase (GUS), which is required for the degradation of three glycosaminoglycans (GAGs): dermatan sulfate, heparan sulfate, and chondroitin sulfate. Progressive accumulation of these GAGs in lysosomes leads to increasing dysfunction in numerous tissues and organs. Enzyme replacement therapy (ERT) has been used successfully for other MPS disorders, but there is no approved treatment for MPS VII. Here we describe the first human treatment with recombinant human GUS (rhGUS), an investigational therapy for MPS VII, in a 12-year old boy …


Alemtuzumab Pharmacokinetics In Hematopoietic Stem Cell Transplants For Nonmalignant Genetic Diseases, A. Jain, I. Sahdev Jan 2015

Alemtuzumab Pharmacokinetics In Hematopoietic Stem Cell Transplants For Nonmalignant Genetic Diseases, A. Jain, I. Sahdev

Journal Articles

No abstract provided.


Association Of Prenatal Perchlorate, Thiocyanate, And Nitrate Exposure With Neonatal Size And Gestational Age, K. A. Evans, D. Q. Rich, B. Weinberger, A. M. Vetrano, L. Valentin-Blasini, P. O. Strickland, B. C. Blount Jan 2015

Association Of Prenatal Perchlorate, Thiocyanate, And Nitrate Exposure With Neonatal Size And Gestational Age, K. A. Evans, D. Q. Rich, B. Weinberger, A. M. Vetrano, L. Valentin-Blasini, P. O. Strickland, B. C. Blount

Journal Articles

BACKGROUND: Perchlorate and similar anions compete with iodine for uptake into the thyroid by the sodium iodide symporter (NIS). This may restrict fetal growth via impaired thyroid hormone production. METHODS: We collected urine samples from 107 pregnant women and used linear regression to estimate differences in newborn size and gestational age associated with increases in perchlorate, thiocyanate, nitrate, and perchlorate equivalence concentrations (PEC; measure of total NIS inhibitor exposure). RESULTS: NIS inhibitor concentrations were not associated with newborn weight, length, or gestational age. Each 2.62ng/mug creatinine increase in perchlorate was associated with smaller head circumference (0.32cm; 95% CI: -0.66, 0.01), …


De Novo Mutations In Congenital Heart Disease With Neurodevelopmental And Other Congenital Anomalies, J. Homsy, S. Zaidi, Y. Shen, J. S. Ware, K. E. Samocha, K. J. Karczewski, S. R. Depalma, D. Mckean, A. Romano-Adesman, W. K. Chung, +31 Additional Authors Jan 2015

De Novo Mutations In Congenital Heart Disease With Neurodevelopmental And Other Congenital Anomalies, J. Homsy, S. Zaidi, Y. Shen, J. S. Ware, K. E. Samocha, K. J. Karczewski, S. R. Depalma, D. Mckean, A. Romano-Adesman, W. K. Chung, +31 Additional Authors

Journal Articles

Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD, and CA but only 2% of patients with isolated CHD. Mutations altered genes involved in morphogenesis, chromatin modification, and transcriptional regulation, including multiple mutations in RBFOX2, a regulator of mRNA splicing. Genes mutated in other cohorts examined for NDD were enriched in CHD cases, …


Differences In Birth Weight Associated With The 2008 Beijing Olympics Air Pollution Reduction: Results From A Natural Experiment, D. Q. Rich, K. Liu, J. Zhang, S. W. Thurston, T. P. Stevens, Y. Pan, C. Kane, B. Weinberger, P. Ohman-Strickland, +3 Additional Authors Jan 2015

Differences In Birth Weight Associated With The 2008 Beijing Olympics Air Pollution Reduction: Results From A Natural Experiment, D. Q. Rich, K. Liu, J. Zhang, S. W. Thurston, T. P. Stevens, Y. Pan, C. Kane, B. Weinberger, P. Ohman-Strickland, +3 Additional Authors

Journal Articles

BACKGROUND: Previous studies have reported decreased birth weight associated with increased air pollutant concentrations during pregnancy. However, it is not clear when during pregnancy increases in air pollution are associated with the largest differences in birth weight. OBJECTIVES: Using the natural experiment of air pollution declines during the 2008 Beijing Olympics, we evaluated whether having specific months of pregnancy (i.e., 1st...8th) during the 2008 Olympics period was associated with larger birth weights, compared with pregnancies during the same dates in 2007 or 2009. METHODS: Using n = 83,672 term births to mothers residing in four urban districts of Beijing, we …