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2015

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Articles 7261 - 7290 of 11981

Full-Text Articles in Medicine and Health Sciences

Acute Myeloid Leukemia Ontogeny Is Defined By Distinct Somatic Mutations, R. C. Lindsley, B. G. Mar, E. Mazzola, P. V. Grauman, S. Shareef, S. L. Allen, A. Pigneux, M. Wetzler, R. K. Stuart, B. L. Ebert, +9 Additional Authors Jan 2015

Acute Myeloid Leukemia Ontogeny Is Defined By Distinct Somatic Mutations, R. C. Lindsley, B. G. Mar, E. Mazzola, P. V. Grauman, S. Shareef, S. L. Allen, A. Pigneux, M. Wetzler, R. K. Stuart, B. L. Ebert, +9 Additional Authors

Journal Articles

Acute myeloid leukemia (AML) can develop after an antecedent myeloid malignancy (secondary AML [s-AML]), after leukemogenic therapy (therapy-related AML [t-AML]), or without an identifiable prodrome or known exposure (de novo AML). The genetic basis of these distinct pathways of AML development has not been determined. We performed targeted mutational analysis of 194 patients with rigorously defined s-AML or t-AML and 105 unselected AML patients. The presence of a mutation in SRSF2, SF3B1, U2AF1, ZRSR2, ASXL1, EZH2, BCOR, or STAG2 was >95% specific for the diagnosis of s-AML. Analysis of serial samples from individual patients revealed that these mutations occur early …

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Cds, Ux, And System Redesign - Promising Techniques And Tools To Bridge The Evidence Gap, T. Mcginn Jan 2015

Cds, Ux, And System Redesign - Promising Techniques And Tools To Bridge The Evidence Gap, T. Mcginn

Journal Articles

INTRODUCTION: In this special issue of eGEMs, we explore the struggles related to bringing evidence into day-to-day practice, what I define as the "evidence gap." We are all aware of high quality evidence in the form of guidelines, randomized clinical trials for treatments and diagnostic tests, and clinical prediction rules, which are all readily available online. We also know that electronic health records (EHRs) are now ubiquitous in health care and in most practices across the country. How we marry this high quality evidence and the practice of medicine through effective decision support is a major challenge. ABOUT THE ISSUE: …

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Challenges And Opportunities In Late-Stage Chronic Kidney Disease, S. Fishbane, A. D. Hazzan, C. Halinski, A. T. Mathew Jan 2015

Challenges And Opportunities In Late-Stage Chronic Kidney Disease, S. Fishbane, A. D. Hazzan, C. Halinski, A. T. Mathew

Journal Articles

There is increasing recognition that chronic diseases are a major challenge for health delivery systems and treasuries. These are highly prevalent and costly diseases and frequency is expected to increase greatly as the population of many countries ages. Chronic kidney disease (CKD) has not received the same attention as other chronic diseases such as congestive heart failure; yet, the prevalence and costs of CKD are substantial. Greater recognition and support for CKD may require that the disease no longer be viewed as one continuous disease state. Early CKD stages require less complex care and generate lower costs. In contrast, late-stage …

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Clinical Features, And Gene- And Microrna-Expression Patterns In Adult Acute Leukemia Patients With T(11;19)(Q23;P13.1) And T(11;19)(Q23;P13.3), B. Bhatnagar, J. S. Blachly, J. Kohlschmidt, A. K. Eisfeld, S. Volinia, D. Nicolet, A. J. Carroll, A. M. Block, J. E. Kolitz, C. D. Bloomfield, +3 Additional Authors Jan 2015

Clinical Features, And Gene- And Microrna-Expression Patterns In Adult Acute Leukemia Patients With T(11;19)(Q23;P13.1) And T(11;19)(Q23;P13.3), B. Bhatnagar, J. S. Blachly, J. Kohlschmidt, A. K. Eisfeld, S. Volinia, D. Nicolet, A. J. Carroll, A. M. Block, J. E. Kolitz, C. D. Bloomfield, +3 Additional Authors

Journal Articles

No abstract provided.

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Use And Outcomes Associated With Bridging During Anticoagulation Interruptions In Patients With Atrial Fibrillation: Findings From The Outcomes Registry For Better Informed Treatment Of Atrial Fibrillation (Orbit-Af), B. A. Steinberg, E. D. Peterson, S. Kim, L. Thomas, B. J. Gersh, G. C. Fonarow, P. R. Kowey, K. W. Mahaffey, M. W. Sherwood, J. Ansell, +2 Additional Authors Jan 2015

Use And Outcomes Associated With Bridging During Anticoagulation Interruptions In Patients With Atrial Fibrillation: Findings From The Outcomes Registry For Better Informed Treatment Of Atrial Fibrillation (Orbit-Af), B. A. Steinberg, E. D. Peterson, S. Kim, L. Thomas, B. J. Gersh, G. C. Fonarow, P. R. Kowey, K. W. Mahaffey, M. W. Sherwood, J. Ansell, +2 Additional Authors

Journal Articles

BACKGROUND: Temporary interruption of oral anticoagulation for procedures is often required, and some propose using bridging anticoagulation. However, the use and outcomes of bridging during oral anticoagulation interruptions in clinical practice are unknown. METHODS AND RESULTS: The Outcomes Registry for Better Informed Treatment of Atrial Fibrillation (ORBIT-AF) registry is a prospective, observational registry study of US outpatients with atrial fibrillation. We recorded incident temporary interruptions of oral anticoagulation for a procedure, including the use and type of bridging therapy. Outcomes included multivariable-adjusted rates of myocardial infarction, stroke or systemic embolism, major bleeding, cause-specific hospitalization, and death within 30 days. Of …

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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 …

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Abnormal Erythroid Maturation Leads To Microcytic Anemia In The Tsap6/Steap3 Null Mouse Model, L. Blanc, J. Papoin, G. Debnath, M. Vidal, R. Amson, A. Telerman, X. L. An, N. Mohandas Jan 2015

Abnormal Erythroid Maturation Leads To Microcytic Anemia In The Tsap6/Steap3 Null Mouse Model, L. Blanc, J. Papoin, G. Debnath, M. Vidal, R. Amson, A. Telerman, X. L. An, N. Mohandas

Journal Articles

Genetic ablation of the ferrireductase STEAP3, also known as TSAP6, leads to severe microcytic and hypochromic red cells with moderate anemia in the mouse. However, the mechanism leading to anemia is poorly understood. Previous results indicate that TSAP6/Steap3 is a regulator of exosome secretion. Using TSAP6/Steap3 knockout mice, we first undertook a comprehensive hematologic characterization of the red cell compartment, and confirmed a dramatic decrease in the volume and hemoglobin content of these erythrocytes. We observed marked anisocytosis as well as the presence of fragmenting erythrocytes. Consistent with these observations, we found by ektacytometry decreased membrane mechanical stability of knockout …

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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.

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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), …

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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, …

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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 …

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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.

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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) …

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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 …

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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.

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[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.

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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.

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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 …

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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. …

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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 …

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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.

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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.

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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.

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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 …

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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 …

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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 …

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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 …

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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 …

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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.

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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.

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