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Articles 1 - 30 of 49
Full-Text Articles in Medicine and Health Sciences
Presurgical Ct Evaluation Of Congenital Aural Atresia, V. T. Nguyen, G. Paek, J. Hu, L. P. Smith
Presurgical Ct Evaluation Of Congenital Aural Atresia, V. T. Nguyen, G. Paek, J. Hu, L. P. Smith
Journal Articles
Congenital aural atresia occurs in approximately 1 in 10,000‐20,000 births and may be surgically repaired if the middle ear malformation is limited in character. External auditory canal atresia is difficult to repair surgically, with significant risks and complications. Surgical candidacy in congenital aural atresia is based on multiple factors, central to which are the anatomy of the temporal bone and audiometric findings. High-resolution multidetector CT is the imaging technique of choice for anatomy delineation, although there are some specific indications for MR imaging in presurgical assessment. Various CT grading systems have been developed to determine surgical candidacy and are described …
Poly(I:C) Induces Controlled Release Of Il-36gamma From Keratinocytes In The Absence Of Cell Death, A. A. Rana, A. V. Lucs, J. Devoti, L. Blanc, J. Papoin, R. Wu, C. J. Papayannakos, A. Abramson, V. R. Bonagura, B. M. Steinberg
Poly(I:C) Induces Controlled Release Of Il-36gamma From Keratinocytes In The Absence Of Cell Death, A. A. Rana, A. V. Lucs, J. Devoti, L. Blanc, J. Papoin, R. Wu, C. J. Papayannakos, A. Abramson, V. R. Bonagura, B. M. Steinberg
Journal Articles
The epithelium is part of an integrated immune system where cytokines, toll-like receptors and their ligands, and extracellular vesicles play a crucial role in initiating an innate immune response. IL-36gamma is a pro-inflammatory member of the IL-1 family that is mainly expressed by epithelial cells, but regulation of its expression and release are only beginning to be understood. Previous studies reported that IL-36gamma is abundant in recurrent respiratory papillomatosis, a rare but devastating disease caused by human papillomaviruses (HPV) types 6 and 11, in which papillomas recurrently grow in and block the airway. Despite the overexpression of IL-36gamma, papilloma tissues …
Neurologic Recovery After An Exam Consistent With Brain Death In An Adolescent With Severe Asthma, L. B. Glater-Welt, A. D. Kessel
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
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
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
Alemtuzumab Pharmacokinetics In Hematopoietic Stem Cell Transplants For Nonmalignant Genetic Diseases, A. Jain, I. Sahdev
Journal Articles
No abstract provided.
Assessing The Associations Of Sodium Intake With Long-Term All-Cause And Cardiovascular Mortality In A Hypertensive Cohort, P. Singer, H. Cohen, M. Alderman
Assessing The Associations Of Sodium Intake With Long-Term All-Cause And Cardiovascular Mortality In A Hypertensive Cohort, P. Singer, H. Cohen, M. Alderman
Journal Articles
BACKGROUND: Although higher sodium intake is known to increase blood pressure, its association with cardiovascular mortality is less established. We examined the association of baseline sodium intake in a hypertensive cohort with all-cause and cardiovascular mortality over a mean follow-up of 18.6 years. METHODS: Three thousand five hundred five subjects were participants in a worksite hypertension program. Sodium intake was estimated by 24-hour urine excretion. Mortality data were obtained from the U.S. National Death Index. Unadjusted and multivariable-adjusted associations between sodium quartiles (quartile I (QI) to quartile IV (QIV)) and mortality were assessed using Cox models. RESULTS: Estimated mean +/- …
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
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
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, …
Chronic Hiv Infection Is Associated With Upregulation Of Proinflammatory Cytokine And Chemokine And Alpha Defensin Gene Expression In Colorectal Mucosa, J. Mait-Kaufman, E. Fakioglu, P. M. Mesquita, J. Elliott, Y. Lo, R. P. Madan
Chronic Hiv Infection Is Associated With Upregulation Of Proinflammatory Cytokine And Chemokine And Alpha Defensin Gene Expression In Colorectal Mucosa, J. Mait-Kaufman, E. Fakioglu, P. M. Mesquita, J. Elliott, Y. Lo, R. P. Madan
Journal Articles
HIV may induce gastrointestinal (GI) mucosal immune dysregulation similar to inflammation observed in ulcerative colitis (UC). Colorectal biopsies from healthy controls (N=12) and from participants with HIV (N=20) or UC (N=9) were subjected to real time (RT)-PCR for selected cytokines, chemokines, antimicrobial peptides, Toll-like receptors, and inflammatory signaling and epithelial barrier proteins. HIV long terminal repeat relative copy number (RCN) in HIV participant biopsies was quantified by RT-PCR. Mean interleukin (IL)-6 mRNA levels did not differ significantly between HIV and UC participants (p=0.48) but were significantly higher relative to control mRNA levels only for HIV participants (p=0.03). Mean IL-8 and …
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
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 …
Congenital Adrenal Hyperplasia, P. W. Speiser
Congenital Adrenal Hyperplasia, P. W. Speiser
Journal Articles
Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management.
Comparing Segmented Asl Perfusion Of Vascular Territories Using Manual Versus Semiautomated Techniques In Children With Sickle Cell Anemia, K. J. Helton, J. O. Glass, W. E. Reddick, A. Paydar, A. R. Zandieh, R. Dave, M. P. Smeltzer, S. Wu, B. Aygun, R. J. Ogg, +1 Additional Author
Comparing Segmented Asl Perfusion Of Vascular Territories Using Manual Versus Semiautomated Techniques In Children With Sickle Cell Anemia, K. J. Helton, J. O. Glass, W. E. Reddick, A. Paydar, A. R. Zandieh, R. Dave, M. P. Smeltzer, S. Wu, B. Aygun, R. J. Ogg, +1 Additional Author
Journal Articles
PURPOSE: Elevated cerebral blood flow (CBF) in sickle cell anemia (SCA) is an adaptive pathophysiologic response associated with decreased vascular reserve and increased risk for ischemia. We compared manual (M) and semiautomated (SA) vascular territory delineation to facilitate standardized evaluation of CBF in children with SCA. MATERIALS AND METHODS: ASL perfusion values from 21 children were compared for gray matter and white matter (WM) in vascular territories defined by M and SA delineation. SA delineated CBF was compared with clinical and hematologic variables acquired within 4 weeks of the MRI. RESULTS: CBF measurements from M (MCA 82 left, 79 right) …
Dissecting Allele Architecture Of Early Onset Ibd Using High-Density Genotyping, D. J. Cutler, M. E. Zwick, D. T. Okou, S. Prahalad, T. Walters, S. L. Guthery, M. Dubinsky, R. Baldassano, J. Markowitz, S. Kugathasan, +24 Additional Authors
Dissecting Allele Architecture Of Early Onset Ibd Using High-Density Genotyping, D. J. Cutler, M. E. Zwick, D. T. Okou, S. Prahalad, T. Walters, S. L. Guthery, M. Dubinsky, R. Baldassano, J. Markowitz, S. Kugathasan, +24 Additional Authors
Journal Articles
BACKGROUND: The inflammatory bowel diseases (IBD) are common, complex disorders in which genetic and environmental factors are believed to interact leading to chronic inflammatory responses against the gut microbiota. Earlier genetic studies performed in mostly adult population of European descent identified 163 loci affecting IBD risk, but most have relatively modest effect sizes, and altogether explain only ~20% of the genetic susceptibility. Pediatric onset represents about 25% of overall incident cases in IBD, characterized by distinct disease physiology, course and risks. The goal of this study is to compare the allelic architecture of early onset IBD with adult onset in …
The Erythroblastic Island As An Emerging Paradigm In The Anemia Of Inflammation, J. Hom, B. M. Dulmovits, N. Mohandas, L. Blanc
The Erythroblastic Island As An Emerging Paradigm In The Anemia Of Inflammation, J. Hom, B. M. Dulmovits, N. Mohandas, L. Blanc
Journal Articles
Terminal erythroid differentiation occurs in the bone marrow, within specialized niches termed erythroblastic islands. These functional units consist of a macrophage surrounded by differentiating erythroblasts and have been described more than five decades ago, but their function in the pathophysiology of erythropoiesis has remained unclear until recently. Here we propose that the central macrophage in the erythroblastic island contributes to the pathophysiology of anemia of inflammation. After introducing erythropoiesis and the interactions between the erythroblasts and the central macrophage within the erythroblastic islands, we will discuss the immunophenotypic characterization of this specific subpopulation of macrophages. We will then integrate these …
High Incidence Of Noonan Syndrome Features Including Short Stature And Pulmonic Stenosis In Patients Carrying Nf1 Missense Mutations Affecting P.Arg1809: Genotype-Phenotype Correlation, K. Rojnueangnit, J. Xie, A. Gomes, A. Sharp, T. Callens, Y. Chen, Y. Liu, M. Cochran, M. G. Bialer, L. Messiaen, +63 Additional Authors
High Incidence Of Noonan Syndrome Features Including Short Stature And Pulmonic Stenosis In Patients Carrying Nf1 Missense Mutations Affecting P.Arg1809: Genotype-Phenotype Correlation, K. Rojnueangnit, J. Xie, A. Gomes, A. Sharp, T. Callens, Y. Chen, Y. Liu, M. Cochran, M. G. Bialer, L. Messiaen, +63 Additional Authors
Journal Articles
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple cafe-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly …
Growth And Tolerance Of Preterm Infants Fed A New Extensively Hydrolyzed Liquid Human Milk Fortifier, J. H. Kim, G. Chan, R. Schanler, S. Groh-Wargo, B. Bloom, R. Dimmit, L. Williams, G. Baggs, B. Barrett-Reis
Growth And Tolerance Of Preterm Infants Fed A New Extensively Hydrolyzed Liquid Human Milk Fortifier, J. H. Kim, G. Chan, R. Schanler, S. Groh-Wargo, B. Bloom, R. Dimmit, L. Williams, G. Baggs, B. Barrett-Reis
Journal Articles
No abstract provided.
The Impact Of Disease Duration On Quality Of Life In Children With Nephrotic Syndrome: A Midwest Pediatric Nephrology Consortium Study, D. T. Selewski, J. P. Troost, S. F. Massengill, R. A. Gbadegesin, L. A. Greenbaum, I. F. Shatat, Y. Cai, G. Kapur, C. B. Sethna, D. S. Gipson, +13 Additional Authors
The Impact Of Disease Duration On Quality Of Life In Children With Nephrotic Syndrome: A Midwest Pediatric Nephrology Consortium Study, D. T. Selewski, J. P. Troost, S. F. Massengill, R. A. Gbadegesin, L. A. Greenbaum, I. F. Shatat, Y. Cai, G. Kapur, C. B. Sethna, D. S. Gipson, +13 Additional Authors
Journal Articles
BACKGROUND: The Patient Reported Outcomes Measurement Information System (PROMIS) II is a prospective study that evaluates patient reported outcomes in pediatric chronic diseases as a measure of health-related quality of life (HRQOL). We have evaluated the influence of disease duration on HRQOL and, for the first time, compared the findings of the PROMIS measures to those of the PedsQL 4.0 Generic Scales (PedsQL) from the PROMIS II nephrotic syndrome (NS) longitudinal cohort. METHODS: This was a prospective study in which 127 children (age range 8-17 years) with active NS from 14 centers were enrolled. Children with active NS defined as …
[In Time: Human Milk Is The Feeding Strategy To Prevent Necrotizing Enterocolitis], R. J. Schanler
[In Time: Human Milk Is The Feeding Strategy To Prevent Necrotizing Enterocolitis], R. J. Schanler
Journal Articles
No abstract provided.
Inherited Disorders Of Bilirubin Clearance, N. Memon, B. I. Weinberger, T. Hegyi, L. M. Aleksunes
Inherited Disorders Of Bilirubin Clearance, N. Memon, B. I. Weinberger, T. Hegyi, L. M. Aleksunes
Journal Articles
Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. Reduced hepatic bilirubin clearance can be due to defective (i) unconjugated bilirubin uptake and intrahepatic storage, (ii) conjugation of glucuronic acid to bilirubin (e.g., Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, breast milk jaundice), (iii) bilirubin excretion into bile (Dubin-Johnson syndrome), or (iv) conjugated bilirubin re-uptake (Rotor syndrome). In this review, the molecular mechanisms and clinical manifestations of these conditions are described, as well as current approaches to diagnosis and therapy.Pediatric Research (2015); doi:10.1038/pr.2015.247.
Interactions Between Plasmodium Falciparum Skeleton-Binding Protein 1 And The Membrane Skeleton Of Malaria-Infected Red Blood Cells, L. M. Kats, N. I. Proellocks, D. W. Buckingham, L. Blanc, J. Hale, X. Guo, X. Pei, S. Herrmann, E. G. Hanssen, B. M. Cooke, +3 Additional Authors
Interactions Between Plasmodium Falciparum Skeleton-Binding Protein 1 And The Membrane Skeleton Of Malaria-Infected Red Blood Cells, L. M. Kats, N. I. Proellocks, D. W. Buckingham, L. Blanc, J. Hale, X. Guo, X. Pei, S. Herrmann, E. G. Hanssen, B. M. Cooke, +3 Additional Authors
Journal Articles
During development inside red blood cells (RBCs), Plasmodium falciparum malaria parasites export proteins that associate with the RBC membrane skeleton. These interactions cause profound changes to the biophysical properties of RBCs that underpin the often severe and fatal clinical manifestations of falciparum malaria. P. falciparum erythrocyte membrane protein 1 (PfEMP1) is one such exported parasite protein that plays a major role in malaria pathogenesis since its exposure on the parasitised RBC surface mediates their adhesion to vascular endothelium and placental syncytioblasts. En route to the RBC membrane skeleton, PfEMP1 transiently associates with Maurer's clefts (MCs), parasite-derived membranous structures in the …
Non Alcoholic Fatty Liver Disease In A Case Of Kabuki Syndrome, A. Jain, M. See
Non Alcoholic Fatty Liver Disease In A Case Of Kabuki Syndrome, A. Jain, M. See
Journal Articles
No abstract provided.
Obtaining Research Biopsies During Pediatric Colonoscopy: Safety And Adverse Events, J. Mait-Kaufman, S. Kahn, G. Tomer
Obtaining Research Biopsies During Pediatric Colonoscopy: Safety And Adverse Events, J. Mait-Kaufman, S. Kahn, G. Tomer
Journal Articles
AIM: To investigate the safety profile of acquiring additional intestinal biopsies for research purposes in children undergoing a medically indicated colonoscopy. METHODS: A retrospective review of 122 pediatric patients who underwent colonoscopy over a 9 mo time period was completed. 38/122 participants consented to a research study in which 4 additional biopsies were obtained, in addition to routine biopsies. The outcomes after colonoscopy were measured in the research participants, and compared to 84 control participants who did not consent for the study. Groups were compared with regard to number of biopsies obtained, underlying diagnosis, and both serious and minor adverse …
Oral Feeding Assessment Predicts Length Of Hospital Stay In Late Preterm Infants, C. Lau, K. Bhat, D. Potak, R. J. Schanler
Oral Feeding Assessment Predicts Length Of Hospital Stay In Late Preterm Infants, C. Lau, K. Bhat, D. Potak, R. J. Schanler
Journal Articles
BACKGROUND: When compared with term infants, late preterm (LP) infants have greater morbidity and mortality, longer hospital stay, and greater rate of hospital readmission. Oral feeding difficulty is one of the prominent reasons for delayed discharge in LP infants. OBJECTIVE: To identify the maturity levels of LP infants' oral feeding skills (OFS) at the time of their first oral feeding and to determine the relationship between OFS maturity levels and length of hospital stay. METHODS: OFS was assessed in 48 LP infants born between 340/7 and 356/7 weeks gestational age at the time of their first oral feeding within 24 …
Predictors Of Resolution And Persistence Of Renal Laboratory Abnormalities In Pediatric Hiv Infection, C. D. Mitchell, M. C. Chernoff, G. R., 3rd Seage, M. U. Purswani, H. M. Spiegel, G. Zilleruelo, C. Abitbol, B. Heckman, J. M. Oleske, V. Bonagura, Impaact 219/219c Study Team
Predictors Of Resolution And Persistence Of Renal Laboratory Abnormalities In Pediatric Hiv Infection, C. D. Mitchell, M. C. Chernoff, G. R., 3rd Seage, M. U. Purswani, H. M. Spiegel, G. Zilleruelo, C. Abitbol, B. Heckman, J. M. Oleske, V. Bonagura, Impaact 219/219c Study Team
Journal Articles
BACKGROUND: Among human immunodeficiency virus (HIV)-infected youth, the role of renal disease (RD) and its management has become increasingly important as these children/adolescents mature into young adults. The identification of predictors of abnormal renal laboratory events (RLE) may be helpful in the management of their HIV infection and its associated renal complications. METHODS: Data collected from HIV-infected youth followed for >/= 48 months were analyzed to identify predictors of resolution versus persistence of RLE and determine the utility of RLE to predict the onset of RD. Analysis included descriptive and inferential methods using a multivariable extended Cox proportional hazards model. …
Prevention Of Conversion To Abnormal Tcd With Hydroxyurea In Sickle Cell Anemia: A Phase Iii International Randomized Clinical Trial, J. S. Hankins, M. B. Mccarville, A. Rankine-Mullings, M. E. Reid, C. L. Lobo, P. G. Moura, S. Ali, D. Soares, B. Aygun, R. E. Ware, +7 Additional Authors
Prevention Of Conversion To Abnormal Tcd With Hydroxyurea In Sickle Cell Anemia: A Phase Iii International Randomized Clinical Trial, J. S. Hankins, M. B. Mccarville, A. Rankine-Mullings, M. E. Reid, C. L. Lobo, P. G. Moura, S. Ali, D. Soares, B. Aygun, R. E. Ware, +7 Additional Authors
Journal Articles
Children with sickle cell anemia (SCA) and conditional transcranial Doppler (TCD) ultrasound velocities (170-199 cm/sec) may develop stroke. However, with limited available clinical data, the current standard of care for conditional TCD velocities is observation. The efficacy of hydroxyurea in preventing conversion from conditional to abnormal TCD (>/=200 cm/sec), which confers a higher stroke risk, has not been studied prospectively in a randomized trial. Sparing Conversion to Abnormal TCD Elevation (SCATE #NCT01531387) was an NHLBI-funded Phase III multicenter international clinical trial comparing alternative therapy (hydroxyurea) to standard care (observation) to prevent conversion from conditional to abnormal TCD velocity in …
Prkag2 Mutation: An Easily Missed Cardiac Specific Non-Lysosomal Glycogenosis, V. Aggarwal, N. Dobrolet, S. Fishberger, J. Zablah, P. Jayakar, Z. Ammous
Prkag2 Mutation: An Easily Missed Cardiac Specific Non-Lysosomal Glycogenosis, V. Aggarwal, N. Dobrolet, S. Fishberger, J. Zablah, P. Jayakar, Z. Ammous
Journal Articles
Mutations in PRKAG2 gene that regulates the gamma2 subunit of the adenosine monophosphate (AMP) dependent protein kinase have been associated with the development of atrioventricular (AV) accessory pathways, cardiac hypertrophy, and conduction system abnormalities. These patients can potentially be misdiagnosed as hypertrophic cardiomyopathy (HOCM) and/or Wolf-Parkinson White (WPW) syndrome due to similar clinical phenotype. Early recognition of this disease entity is very important as ablation of suspected accessory pathways is not effective and the natural history of the disease is very different from HOCM and WPW syndrome.
Population Pharmacokinetics Of Darbepoetin Alfa In Conjunction With Hypothermia For The Treatment Of Neonatal Hypoxic-Ischemic Encephalopathy, J. K. Roberts, C. Stockmann, R. M. Ward, J. Beachy, M. C. Baserga, M. G. Spigarelli, C. M. Sherwin
Population Pharmacokinetics Of Darbepoetin Alfa In Conjunction With Hypothermia For The Treatment Of Neonatal Hypoxic-Ischemic Encephalopathy, J. K. Roberts, C. Stockmann, R. M. Ward, J. Beachy, M. C. Baserga, M. G. Spigarelli, C. M. Sherwin
Journal Articles
AIM: The aim of this study was to determine the population pharmacokinetics of darbepoetin alfa in hypothermic neonates with hypoxic-ischemic encephalopathy treated with hypothermia. METHODS: Neonates >/=36 weeks gestation andrandomized, multicenter, investigational, new drug pharmacokinetic study. Two intravenous darbepoetin alfa treatment groups were evaluated: 2 and 10 microg/kg. Serum erythropoietin concentrations were measured using an enzyme-linked immunosorbent assay. Monolix 4.3.1 was used to estimate darbepoetin alfa clearance and volume of distribution. Covariates tested included: birthweight, gestational age, postnatal age, postmenstrual age, sex, Sarnat score, and study site. RESULTS: Darbepoetin alfa pharmacokinetics were well described by a one-compartment model with exponential …
Protocolized Sedation Vs Usual Care In Pediatric Patients Mechanically Ventilated For Acute Respiratory Failure: A Randomized Clinical Trial, M. A. Curley, D. Wypij, R. S. Watson, M. J. Grant, L. A. Asaro, I. M. Cheifetz, B. L. Dodson, L. S. Franck, R. G. Gedeit, J. Schneider, +2 Additional Authors
Protocolized Sedation Vs Usual Care In Pediatric Patients Mechanically Ventilated For Acute Respiratory Failure: A Randomized Clinical Trial, M. A. Curley, D. Wypij, R. S. Watson, M. J. Grant, L. A. Asaro, I. M. Cheifetz, B. L. Dodson, L. S. Franck, R. G. Gedeit, J. Schneider, +2 Additional Authors
Journal Articles
IMPORTANCE: Protocolized sedation improves clinical outcomes in critically ill adults, but its effect in children is unknown. OBJECTIVE: To determine whether critically ill children managed with a nurse-implemented, goal-directed sedation protocol experience fewer days of mechanical ventilation than patients receiving usual care. DESIGN, SETTING, AND PARTICIPANTS: Cluster randomized trial conducted in 31 US pediatric intensive care units (PICUs). A total of 2449 children (mean age, 4.7 years; range, 2 weeks to 17 years) mechanically ventilated for acute respiratory failure were enrolled in 2009-2013 and followed up until 72 hours after opioids were discontinued, 28 days, or hospital discharge. INTERVENTION: Intervention …
Therapeutic Phlebotomy Is Safe In Children With Sickle Cell Anaemia And Can Be Effective Treatment For Transfusional Iron Overload, B. Aygun, N. A. Mortier, K. Kesler, A. Lockhart, W. H. Schultz, A. R. Cohen, O. Alvarez, Z. R. Rogers, J. L. Kwiatkowski, R. E. Ware, +4 Additional Authors
Therapeutic Phlebotomy Is Safe In Children With Sickle Cell Anaemia And Can Be Effective Treatment For Transfusional Iron Overload, B. Aygun, N. A. Mortier, K. Kesler, A. Lockhart, W. H. Schultz, A. R. Cohen, O. Alvarez, Z. R. Rogers, J. L. Kwiatkowski, R. E. Ware, +4 Additional Authors
Journal Articles
Serial phlebotomy was performed on sixty children with sickle cell anaemia, stroke and transfusional iron overload randomized to hydroxycarbamide in the Stroke With Transfusions Changing to Hydroxyurea trial. There were 927 phlebotomy procedures with only 33 adverse events, all of which were grade 2. Among 23 children completing 30 months of study treatment, the net iron balance was favourable (-8.7 mg Fe/kg) with significant decrease in ferritin, although liver iron concentration remained unchanged. Therapeutic phlebotomy was safe and well-tolerated, with net iron removal in most children who completed 30 months of protocol-directed treatment.