Open Access. Powered by Scholars. Published by Universities.®

Medicine and Health Sciences Commons™

Open Access. Powered by Scholars. Published by Universities.®

Journal Articles

Discipline
Institution
Keyword
Publication Year
File Type

Articles 1501 - 1530 of 2396

Full-Text Articles in Medicine and Health Sciences

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, …

Go to article

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 …

Go to article

Congenital Adrenal Hyperplasia, P. W. Speiser Jan 2015

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.

Go to article

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 Jan 2015

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) …

Go to article

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 Jan 2015

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 …

Go to article

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 Jan 2015

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.

Go to article

[In Time: Human Milk Is The Feeding Strategy To Prevent Necrotizing Enterocolitis], R. J. Schanler Jan 2015

[In Time: Human Milk Is The Feeding Strategy To Prevent Necrotizing Enterocolitis], R. J. Schanler

Journal Articles

No abstract provided.

Go to article

Inherited Disorders Of Bilirubin Clearance, N. Memon, B. I. Weinberger, T. Hegyi, L. M. Aleksunes Jan 2015

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.

Go to article

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 Jan 2015

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 …

Go to article

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 Jan 2015

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. …

Go to article

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 Jan 2015

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 …

Go to article

Prkag2 Mutation: An Easily Missed Cardiac Specific Non-Lysosomal Glycogenosis, V. Aggarwal, N. Dobrolet, S. Fishberger, J. Zablah, P. Jayakar, Z. Ammous Jan 2015

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.

Go to article

Proton-Pump Inhibitor Treatment In Eosinophilic Esophagitis Is Associated With Decreased Eosinophil Degranulation, J. Levine, Y. Lu, C. Carreon, M. Edelman Jan 2015

Proton-Pump Inhibitor Treatment In Eosinophilic Esophagitis Is Associated With Decreased Eosinophil Degranulation, J. Levine, Y. Lu, C. Carreon, M. Edelman

Journal Articles

No abstract provided.

Go to article

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 Jan 2015

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.

Go to article

Recurrent Gain Of Function Mutation In Calcium Channel Cacna1h Causes Early-Onset Hypertension With Primary Aldosteronism, U. I. Scholl, G. Stolting, C. Nelson-Williams, A. A. Vichot, M. Choi, E. Loring, M. L. Prasad, G. Goh, C. B. Sethna, R. P. Lifton, +11 Additional Authors Jan 2015

Recurrent Gain Of Function Mutation In Calcium Channel Cacna1h Causes Early-Onset Hypertension With Primary Aldosteronism, U. I. Scholl, G. Stolting, C. Nelson-Williams, A. A. Vichot, M. Choi, E. Loring, M. L. Prasad, G. Goh, C. B. Sethna, R. P. Lifton, +11 Additional Authors

Journal Articles

Many Mendelian traits are likely unrecognized owing to absence of traditional segregation patterns in families due to causation by de novo mutations, incomplete penetrance, and/or variable expressivity. Genome-level sequencing can overcome these complications. Extreme childhood phenotypes are promising candidates for new Mendelian traits. One example is early onset hypertension, a rare form of a global cause of morbidity and mortality. We performed exome sequencing of 40 unrelated subjects with hypertension due to primary aldosteronism by age 10. Five subjects (12.5%) shared the identical, previously unidentified, heterozygous CACNA1H(M1549V) mutation. Two mutations were demonstrated to be de novo events, and all mutations …

Go to article

Safety And Clinical Activity Of Elosulfase Alfa In Pediatric Patients With Morquio A Syndrome (Mucopolysaccharidosis Iva) Less Than 5 Years, S. A. Jones, M. Bialer, R. Parini, K. Martin, H. Wang, K. Yang, A. J. Shaywitz, P. Harmatz Jan 2015

Safety And Clinical Activity Of Elosulfase Alfa In Pediatric Patients With Morquio A Syndrome (Mucopolysaccharidosis Iva) Less Than 5 Years, S. A. Jones, M. Bialer, R. Parini, K. Martin, H. Wang, K. Yang, A. J. Shaywitz, P. Harmatz

Journal Articles

BACKGROUND: Previous studies have shown that elosulfase alfa has a favorable efficacy/safety profile in Morquio A patients aged >/=5 years. This study evaluated safety and impact on urine keratan sulfate (uKS) levels and growth velocity in younger patients. METHODS: Fifteen Morquio A patients aged/kg/week for 52 weeks during the primary treatment phase of a phase II, open-label, multinational study. Primary endpoint was safety and tolerability, secondary endpoints were change in uKS and growth velocity over 52 weeks. RESULTS: All 15 patients completed the primary treatment phase. Six of 743 infusions (0.8%) administered led to adverse events (AEs) requiring infusion interruption …

Go to article

Tat-Hsp70 Attenuates Experimental Lung Injury, M. M. Lyons, N. N. Raj, J. L. Chittams, L. Kilpatrick, C. S. Deutschman Jan 2015

Tat-Hsp70 Attenuates Experimental Lung Injury, M. M. Lyons, N. N. Raj, J. L. Chittams, L. Kilpatrick, C. S. Deutschman

Journal Articles

Sepsis, a poorly understood syndrome of disordered inflammation, is the leading cause of death in critically ill patients. Lung injury, in the form of acute respiratory distress syndrome (ARDS), is the most common form of organ injury in sepsis. The heat shock response, during which heat shock proteins (HSPs) are expressed, is an endogenous mechanism to protect cells from injury. We have found that the abundance of pulmonary HSP70 is not increased after cecal ligation and double puncture (CLP) in a rat model of sepsis-induced ARDS. Using the HIV-1 trans-activator of transcription (TAT) cell-penetrating protein, we enhanced HSP70 protein abundance …

Go to article

A Self-Paced Oral Feeding System That Enhances Preterm Infants' Oral Feeding Skills, C. Lau, S. Fucile, R. J. Schanler Jan 2015

A Self-Paced Oral Feeding System That Enhances Preterm Infants' Oral Feeding Skills, C. Lau, S. Fucile, R. J. Schanler

Journal Articles

AIM: Very low birth weight (VLBW) infants have difficulty transitioning to independent oral feeding, be they breast- or bottle-feeding. We developed a 'self-paced' feeding system that eliminates the natural presence of the positive hydrostatic pressure and internal vacuum build-up within a bottle during feeding. Such system enhanced these infants' oral feeding performance as monitored by overall transfer (OT; % ml taken/ml prescribed), rate of transfer (RT; ml/min over an entire feeding). This study hypothesizes that the improvements observed in these infants resulted from their ability to use more mature oral feeding skills (OFS). METHODS: 'Feeders and growers' born between 26-29 …

Go to article

Therapeutic Hypothermia After Out-Of-Hospital Cardiac Arrest In Children, F. W. Moler, F. S. Silverstein, R. Holubkov, B. S. Slomine, J. R. Christensen, V. M. Nadkarni, K. L. Meert, C. L. Schleien, J. M. Dean, +35 Additional Authors Jan 2015

Therapeutic Hypothermia After Out-Of-Hospital Cardiac Arrest In Children, F. W. Moler, F. S. Silverstein, R. Holubkov, B. S. Slomine, J. R. Christensen, V. M. Nadkarni, K. L. Meert, C. L. Schleien, J. M. Dean, +35 Additional Authors

Journal Articles

BACKGROUND: Therapeutic hypothermia is recommended for comatose adults after witnessed out-of-hospital cardiac arrest, but data about this intervention in children are limited. METHODS: We conducted this trial of two targeted temperature interventions at 38 children's hospitals involving children who remained unconscious after out-of-hospital cardiac arrest. Within 6 hours after the return of circulation, comatose patients who were older than 2 days and younger than 18 years of age were randomly assigned to therapeutic hypothermia (target temperature, 33.0 degrees C) or therapeutic normothermia (target temperature, 36.8 degrees C). The primary efficacy outcome, survival at 12 months after cardiac arrest with a …

Go to article

Use Of Serogroup B Meningococcal Vaccines In Persons Aged >= 10 Years At Increased Risk For Serogroup B Meningococcal Disease: Recommendations Of The Advisory Committee On Immunization Practices, 2015, T. Folaranmi, L. Rubin, S. W. Martin, M. Patel, J. R. Macneil Jan 2015

Use Of Serogroup B Meningococcal Vaccines In Persons Aged >= 10 Years At Increased Risk For Serogroup B Meningococcal Disease: Recommendations Of The Advisory Committee On Immunization Practices, 2015, T. Folaranmi, L. Rubin, S. W. Martin, M. Patel, J. R. Macneil

Journal Articles

No abstract provided.

Go to article

Yellow Fever Vaccine Booster Doses: Recommendations Of The Advisory Committee On Immunization Practices, 2015, J. E. Staples, J. A. Bocchini, L. Rubin, M. Fischer Jan 2015

Yellow Fever Vaccine Booster Doses: Recommendations Of The Advisory Committee On Immunization Practices, 2015, J. E. Staples, J. A. Bocchini, L. Rubin, M. Fischer

Journal Articles

No abstract provided.

Go to article

High-Density Genotyping Of Immune Loci In Koreans And Europeans Identifies Eight New Rheumatoid Arthritis Risk Loci, K. Kim, S. Y. Bang, H. S. Lee, S. K. Cho, C. B. Choi, Y. K. Sung, T. H. Kim, P. K. Gregersen, S. C. Bae, +32 Additional Authors Jan 2015

High-Density Genotyping Of Immune Loci In Koreans And Europeans Identifies Eight New Rheumatoid Arthritis Risk Loci, K. Kim, S. Y. Bang, H. S. Lee, S. K. Cho, C. B. Choi, Y. K. Sung, T. H. Kim, P. K. Gregersen, S. C. Bae, +32 Additional Authors

Journal Articles

OBJECTIVE: A highly polygenic aetiology and high degree of allele-sharing between ancestries have been well elucidated in genetic studies of rheumatoid arthritis. Recently, the high-density genotyping array Immunochip for immune disease loci identified 14 new rheumatoid arthritis risk loci among individuals of European ancestry. Here, we aimed to identify new rheumatoid arthritis risk loci using Korean-specific Immunochip data. METHODS: We analysed Korean rheumatoid arthritis case-control samples using the Immunochip and genome-wide association studies (GWAS) array to search for new risk alleles of rheumatoid arthritis with anticitrullinated peptide antibodies. To increase power, we performed a meta-analysis of Korean data with previously …

Go to article

Impact Of Early Disease Factors On Metabolic Syndrome In Systemic Lupus Erythematosus: Data From An International Inception Cohort, B. Parker, M. B. Urowitz, D. D. Gladman, M. Lunt, R. Donn, S. C. Bae, J. Sanchez-Guerrero, C. Aranow, M. Mackay, I. N. Bruce, +30 Additional Authors Jan 2015

Impact Of Early Disease Factors On Metabolic Syndrome In Systemic Lupus Erythematosus: Data From An International Inception Cohort, B. Parker, M. B. Urowitz, D. D. Gladman, M. Lunt, R. Donn, S. C. Bae, J. Sanchez-Guerrero, C. Aranow, M. Mackay, I. N. Bruce, +30 Additional Authors

Journal Articles

BACKGROUND: The metabolic syndrome (MetS) may contribute to the increased cardiovascular risk in systemic lupus erythematosus (SLE). We examined the association between MetS and disease activity, disease phenotype and corticosteroid exposure over time in patients with SLE. METHODS: Recently diagnosed (<15 >months) patients with SLE from 30 centres across 11 countries were enrolled into the Systemic Lupus International Collaborating Clinics (SLICC) Inception Cohort from 2000 onwards. Baseline and annual assessments recorded clinical, laboratory and therapeutic data. A longitudinal analysis of factors associated with MetS in the first 2 years of follow-up was performed using random effects logistic regression. RESULTS: We …

Go to article

Association Of Valine And Leucine At Hla-Drb1 Position 11 With Radiographic Progression In Rheumatoid Arthritis, Independent Of The Shared Epitope Alleles But Not Independent Of Anti-Citrullinated Protein Antibodies, H. W. Van Steenbergen, S. Raychaudhuri, L. Rodriguez-Rodriguez, S. Rantapaa-Dahlqvist, E. Berglin, R. E. M. Toes, T. W. J. Huizinga, B. Fernandez-Gutierrez, P. K. Gregersen, A. H. M. Van Der Helm-Van Mil Jan 2015

Association Of Valine And Leucine At Hla-Drb1 Position 11 With Radiographic Progression In Rheumatoid Arthritis, Independent Of The Shared Epitope Alleles But Not Independent Of Anti-Citrullinated Protein Antibodies, H. W. Van Steenbergen, S. Raychaudhuri, L. Rodriguez-Rodriguez, S. Rantapaa-Dahlqvist, E. Berglin, R. E. M. Toes, T. W. J. Huizinga, B. Fernandez-Gutierrez, P. K. Gregersen, A. H. M. Van Der Helm-Van Mil

Journal Articles

Objective. For decades it has been known that the HLA-DRB1 shared epitope (SE) alleles are associated with an increased risk of development and progression of rheumatoid arthritis (RA). Recently, the following variations in the peptide-binding grooves of HLA molecules that predispose to RA development have been identified: Val and Leu at HLA-DRB1 position 11, Asp at HLA-B position 9, and Phe at HLA-DPB1 position 9. This study was undertaken to investigate whether these variants are also associated with radiographic progression in RA, independent of SE and anti-citrullinated protein antibody (ACPA) status. Methods. A total of 4,911 radiograph sets from 1,878 …

Go to article

Crossing The Atlantic: The Euro-Lupus Nephritis Regimen In North America, D. Wofsy, B. Diamond, F. A. Houssiau Jan 2015

Crossing The Atlantic: The Euro-Lupus Nephritis Regimen In North America, D. Wofsy, B. Diamond, F. A. Houssiau

Journal Articles

No abstract provided.

Go to article

Dna-Containing Immunocomplexes Promote Inflammasome Assembly And Release Of Pyrogenic Cytokines By Cd14+ Cd16+ Cd64high Cd32low Inflammatory Monocytes From Malaria Patients, I. C. Hirako, C. Gallego-Marin, M. A. Ataide, W. A. Andrade, H. Gravina, B. C. Rocha, R. B. De Oliveira, D. B. Pereira, B. Diamond, R. T. Gazzinelli, +3 Additional Authors Jan 2015

Dna-Containing Immunocomplexes Promote Inflammasome Assembly And Release Of Pyrogenic Cytokines By Cd14+ Cd16+ Cd64high Cd32low Inflammatory Monocytes From Malaria Patients, I. C. Hirako, C. Gallego-Marin, M. A. Ataide, W. A. Andrade, H. Gravina, B. C. Rocha, R. B. De Oliveira, D. B. Pereira, B. Diamond, R. T. Gazzinelli, +3 Additional Authors

Journal Articles

High levels of circulating immunocomplexes (ICs) are found in patients with either infectious or sterile inflammation. We report that patients with either Plasmodium falciparum or Plasmodium vivax malaria have increased levels of circulating anti-DNA antibodies and ICs containing parasite DNA. Upon stimulation with malaria-induced ICs, monocytes express an NF-kappaB transcriptional signature. The main source of IC-induced proinflammatory cytokines (i.e., tumor necrosis factor alpha [TNF-alpha] and interleukin-1beta [IL-1beta])in peripheral blood mononuclear cells from acute malaria patients was found to be a CD14(+) CD16 (FcgammaRIIIA)(+) CD64 (FcgammaRI)(high) CD32 (FcgammaRIIB)(low) monocyte subset. Monocytes from convalescent patients were predominantly of the classical phenotype (CD14(+) …

Go to article

Genome-Wide Association Study Identifies Hla 8.1 Ancestral Haplotype Alleles As Major Genetic Risk Factors For Myositis Phenotypes, F. W. Miller, W. Chen, T. P. O'Hanlon, R. G. Cooper, J. Vencovsky, L. G. Rider, K. Danko, A. Lee, P. K. Gregersen, C. I. Amos, +17 Additional Authors Jan 2015

Genome-Wide Association Study Identifies Hla 8.1 Ancestral Haplotype Alleles As Major Genetic Risk Factors For Myositis Phenotypes, F. W. Miller, W. Chen, T. P. O'Hanlon, R. G. Cooper, J. Vencovsky, L. G. Rider, K. Danko, A. Lee, P. K. Gregersen, C. I. Amos, +17 Additional Authors

Journal Articles

Autoimmune muscle diseases (myositis) comprise a group of complex phenotypes influenced by genetic and environmental factors. To identify genetic risk factors in patients of European ancestry, we conducted a genome-wide association study (GWAS) of the major myositis phenotypes in a total of 1710 cases, which included 705 adult dermatomyositis, 473 juvenile dermatomyositis, 532 polymyositis and 202 adult dermatomyositis, juvenile dermatomyositis or polymyositis patients with anti-histidyl-tRNA synthetase (anti-Jo-1) autoantibodies, and compared them with 4724 controls. Single-nucleotide polymorphisms showing strong associations (P10-8) in GWAS were identified in the major histocompatibility complex (MHC) region for all myositis phenotypes together, as well as for …

Go to article

A Genetic Study On C5-Traf1 And Progression Of Joint Damage In Rheumatoid Arthritis, H. W. Van Steenbergen, L. Rodriguez-Rodriguez, E. Berglin, A. Zhernakova, R. Knevel, J. Ivorra-Cortes, T. W. J. Huizinga, B. Fernandez-Gutierrez, P. K. Gregersen, A. H. M. Van Der Helm-Van Mil, +1 Additional Author Jan 2015

A Genetic Study On C5-Traf1 And Progression Of Joint Damage In Rheumatoid Arthritis, H. W. Van Steenbergen, L. Rodriguez-Rodriguez, E. Berglin, A. Zhernakova, R. Knevel, J. Ivorra-Cortes, T. W. J. Huizinga, B. Fernandez-Gutierrez, P. K. Gregersen, A. H. M. Van Der Helm-Van Mil, +1 Additional Author

Journal Articles

Introduction: The severity of joint damage progression in rheumatoid arthritis (RA) is heritable. Several genetic variants have been identified, but together explain only part of the total genetic effect. Variants in Interleukin-6 (IL-6), Interleukin-10 (IL-10), C5-TRAF1, and Fc-receptor-like-3 (FCRL3) have been described to associate with radiographic progression, but results of different studies were incongruent. We aimed to clarify associations of these variants with radiographic progression by evaluating six independent cohorts. Methods: In total 5,895 sets of radiographs of 2,493 RA-patients included in six different independent datasets from the Netherlands, Sweden, Spain and North-America were studied in relation to rs1800795 (IL-6), …

Go to article

Genome-Wide Association Analysis Of Psoriatic Arthritis And Cutaneous Psoriasis Reveals Differences In Their Genetic Architecture, P. E. Stuart, R. P. Nair, L. C. Tsoi, T. Tejasvi, S. Das, H. M. Kang, E. Ellinghaus, V. Chandran, K. Callis-Duffin, R. Ike, Y. Li, X. Wen, C. Enerback, J. E. Gudjonsson, S. Koks, K. Kingo, J. Winkelmann, P. K. Gregersen, J. T. Elder, +30 Additional Authors Jan 2015

Genome-Wide Association Analysis Of Psoriatic Arthritis And Cutaneous Psoriasis Reveals Differences In Their Genetic Architecture, P. E. Stuart, R. P. Nair, L. C. Tsoi, T. Tejasvi, S. Das, H. M. Kang, E. Ellinghaus, V. Chandran, K. Callis-Duffin, R. Ike, Y. Li, X. Wen, C. Enerback, J. E. Gudjonsson, S. Koks, K. Kingo, J. Winkelmann, P. K. Gregersen, J. T. Elder, +30 Additional Authors

Journal Articles

Psoriasis vulgaris (PsV) is a common inflammatory and hyperproliferative skin disease. Up to 30% of people with PsV eventually develop psoriatic arthritis (PsA), an inflammatory musculoskeletal condition. To discern differences in genetic risk factors for PsA and cutaneous-only psoriasis (PsC), we carried out a genome-wide association study (GWAS) of 1,430 PsA case subjects and 1,417 unaffected control subjects. Meta-analysis of this study with three other GWASs and two targeted genotyping studies, encompassing a total of 9,293 PsV case subjects, 3,061 PsA case subjects, 3,110 PsC case subjects, and 13,670 unaffected control subjects of European descent, detected 10 regions associated with …

Go to article

A Large-Scale Genetic Analysis Reveals A Strong Contribution Of The Hla Class Ii Region To Giant Cell Arteritis Susceptibility, F. D. Carmona, S. L. Mackie, J. E. Martin, J. C. Taylor, A. Vaglio, S. Eyre, L. Bossini-Castillo, S. Castaneda, P. K. Gregersen, G. C. A. Grp Spanish, +64 Additional Authors Jan 2015

A Large-Scale Genetic Analysis Reveals A Strong Contribution Of The Hla Class Ii Region To Giant Cell Arteritis Susceptibility, F. D. Carmona, S. L. Mackie, J. E. Martin, J. C. Taylor, A. Vaglio, S. Eyre, L. Bossini-Castillo, S. Castaneda, P. K. Gregersen, G. C. A. Grp Spanish, +64 Additional Authors

Journal Articles

We conducted a large-scale genetic analysis on giant cell arteritis (GCA), a polygenic immune-mediated vasculitis. A case-control cohort, comprising 1,651 case subjects with GCA and 15,306 unrelated control subjects from six different countries of European ancestry, was genotyped by the Immunochip array. We also imputed HLA data with a previously validated imputation method to perform a more comprehensive analysis of this genomic region. The strongest association signals were observed in the HLA region, with rs477515 representing the highest peak (p = 4.05 x 10(-40), OR = 1.73). A multivariate model including class II amino acids of HLA-DR beta 1 and …

Go to article

First Prev Next Last