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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 …
Immune Dysregulation In Patients Persistently Infected With Human Papillomaviruses 6 And 11, A. V. Lucs, J. A. Devoti, L. Hatam, A. Afzal, A. L. Abramson, B. M. Steinberg, V. R. Bonagura
Immune Dysregulation In Patients Persistently Infected With Human Papillomaviruses 6 And 11, A. V. Lucs, J. A. Devoti, L. Hatam, A. Afzal, A. L. Abramson, B. M. Steinberg, V. R. Bonagura
Journal Articles
Human Papillomaviruses (HPVs) 6 and 11 are part of a large family of small DNA viruses, some of which are commensal. Although much of the population can contain or clear infection with these viruses, there is a subset of individuals who develop persistent infection that can cause significant morbidity and on occasion mortality. Depending on the site of infection, patients chronically infected with these viruses develop either recurrent, and on occasion, severe genital warts or recurrent respiratory papillomas that can obstruct the upper airway. The HPV-induced diseases described are likely the result of a complex and localized immune suppressive milieu …
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.
Choledochal Cyst Mimicking Gallbladder With Stones In A Six-Year-Old With Right-Sided Abdominal Pain, R. Subramony, N. Kittisarapong, I. Barata, M. Nelson
Choledochal Cyst Mimicking Gallbladder With Stones In A Six-Year-Old With Right-Sided Abdominal Pain, R. Subramony, N. Kittisarapong, I. Barata, M. Nelson
Journal Articles
Choledochal cysts are rare but serious bile duct abnormalities are found in young children, usually during the first year of life.1 They require urgent surgical intervention due to the risk of developing cholangiocarcinoma.2 Clinicians should consider this diagnosis and perform a point-of-care ultrasound (POCUS) when a child presents to the emergency department (ED) with findings of jaundice, abdominal pain, and the presence of an abdominal mass. We present the case of a six-year-old child presenting only with abdominal pain upon arrival to our ED and was ultimately diagnosed by POCUS to have a choledochal cyst.
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 …
Effects Of Obesity On Health-Related Quality Of Life In Juvenile-Onset Systemic Lupus Erythematosus, R. Mina, M. S. Klein-Gitelman, S. Nelson, B. A. Eberhard, G. Higgins, N. G. Singer, K. Onel, L. Tucker, K. M. O'Neil, H. I. Brunner, +4 Additional Authors
Effects Of Obesity On Health-Related Quality Of Life In Juvenile-Onset Systemic Lupus Erythematosus, R. Mina, M. S. Klein-Gitelman, S. Nelson, B. A. Eberhard, G. Higgins, N. G. Singer, K. Onel, L. Tucker, K. M. O'Neil, H. I. Brunner, +4 Additional Authors
Journal Articles
OBJECTIVE: This study evaluated the effects of obesity on health-related quality of life (HRQOL) measures in juvenile-onset systemic lupus erythematosus (jSLE). METHODS: Obesity was defined as a body mass index (BMI) >/=95th percentile according to the Sex-specific Center for Disease Control BMI-For-Age Charts and determined in a multicenter cohort of jSLE patients. In this secondary analysis, the domain and summary scores of the Pediatric Quality of Life (PedsQL) Inventory and the Child Health Questionnaire (CHQ) of obese jSLE patients were compared to those of non-obese jSLE patients as well as historical obese and non-obese healthy controls. Mixed-effects modeling was performed …
Antigen-Based Immunotherapy For Autoimmune Disease: Current Status, D. L. Hirsch, P. Ponda
Antigen-Based Immunotherapy For Autoimmune Disease: Current Status, D. L. Hirsch, P. Ponda
Journal Articles
Autoimmune diseases are common chronic disorders that not only have a major impact on the quality of life but are also potentially life-threatening. Treatment modalities that are currently favored have conferred signifcant clinical benefts, but they may have considerable side effects. An optimal treatment strategy for autoimmune disease would specifcally target disease-associated antigens and limit systemic side effects. Similar to allergen-specifc immunotherapy for allergic rhinitis, antigen-specifc immunotherapy for autoimmune disease aims to induce immune deviation and promote tolerance to specifc antigens. In this review, we present the current status of studies and clinical trials in both human and animal hosts …
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 …
Clinical And Genomic Heterogeneity Of Diamond Blackfan Anemia In The Russian Federation, N. S. Smetanina, I. V. Mersiyanova, M. A. Kurnikova, G. S. Ovsyannikova, L. A. Hachatryan, V. O. Bobrynina, M. A. Maschan, G. A. Novichkova, J. M. Lipton, A. A. Maschan
Clinical And Genomic Heterogeneity Of Diamond Blackfan Anemia In The Russian Federation, N. S. Smetanina, I. V. Mersiyanova, M. A. Kurnikova, G. S. Ovsyannikova, L. A. Hachatryan, V. O. Bobrynina, M. A. Maschan, G. A. Novichkova, J. M. Lipton, A. A. Maschan
Journal Articles
BackgroundDiamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopathy and inherited bone marrow failure syndrome characterized by anemia, reticulocytopenia, and decreased erythroid precursors in the bone marrow with an increased risk of malignancy and, in approximately 50%, physical abnormalities. MethodsWe retrospectively analyzed clinical data from 77 patients with DBA born in the Russian Federation from 1993 to 2014. In 74 families there was one clinically affected individual; in only three instances a multiplex family was identified. Genomic DNA from 57 DBA patients and their first-degree relatives was sequenced for mutations in RPS19, RPS10, RPS24, RPS26, RPS7, RPS17, RPL5, …
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) …
Exosomes In Cancer Research, S. R. Vaiselbuh
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 …
Effects Of Wharton's Jelly-Derived Mesenchymal Stem Cells On Neonatal Neutrophils, I. Khan, L. Zhang, M. Mohammed, F. E. Archer, J. Abukharmah, Z. Yuan, S. S. Rizvi, M. G. Melek, B. Weinberger, A. M. Vetrano, +2 Additional Authors
Effects Of Wharton's Jelly-Derived Mesenchymal Stem Cells On Neonatal Neutrophils, I. Khan, L. Zhang, M. Mohammed, F. E. Archer, J. Abukharmah, Z. Yuan, S. S. Rizvi, M. G. Melek, B. Weinberger, A. M. Vetrano, +2 Additional Authors
Journal Articles
BACKGROUND: Mesenchymal stem cells (MSCs) have been proposed as autologous therapy for inflammatory diseases in neonates. MSCs from umbilical cord Wharton's jelly (WJ-MSCs) are accessible, with high proliferative capacity. The effects of WJ-MSCs on neutrophil activity in neonates are not known. We compared the effects of WJ-MSCs on apoptosis and the expression of inflammatory, oxidant, and antioxidant mediators in adult and neonatal neutrophils. METHODS: WJ-MSCs were isolated, and their purity and function were confirmed by flow cytometry. Neutrophils were isolated from cord and adult blood by density centrifugation. The effects of neutrophil/WJ-MSC co-culture on apoptosis and gene and protein expression …
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.
Judging Quality Of Current Septic Shock Definitions And Criteria, M. Shankar-Hari, G. Bertolini, F. M. Brunkhorst, R. Bellomo, D. Annane, C. S. Deutschman, M. Singer
Judging Quality Of Current Septic Shock Definitions And Criteria, M. Shankar-Hari, G. Bertolini, F. M. Brunkhorst, R. Bellomo, D. Annane, C. S. Deutschman, M. Singer
Journal Articles
Septic shock definitions are being revisited. We assess the feasibility, reliability, and validity characteristics of the current definitions and criteria of septic shock. Septic shock is conceptualised as cardiovascular dysfunction, tissue perfusion and cellular abnormalities caused by infection. Currently, for feasibility, septic shock is identified at the bedside by using either hypotension or a proxy for tissue perfusion/cellular abnormalities (e.g., hyperlactatemia). We propose that concurrent presence of cardiovascular dysfunction and perfusion/cellular abnormalities could improve validity of septic shock diagnosis, as we are more likely to identify a patient population with all elements of the illness concept. This epidemiological refinement should …
Mutations In Ddx3x Are A Common Cause Of Unexplained Intellectual Disability With Gender-Specific Effects On Wnt Signaling, L. Snijders Blok, E. Madsen, J. Juusola, C. Gilissen, D. Baralle, M. R. Reijnders, H. Venselaar, J. Fox, J. Mclaughlin, T. Kleefstra, +73 Additional Authors
Mutations In Ddx3x Are A Common Cause Of Unexplained Intellectual Disability With Gender-Specific Effects On Wnt Signaling, L. Snijders Blok, E. Madsen, J. Juusola, C. Gilissen, D. Baralle, M. R. Reijnders, H. Venselaar, J. Fox, J. Mclaughlin, T. Kleefstra, +73 Additional Authors
Journal Articles
Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on the X chromosome causing ID in females. In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Based on our findings, mutations in DDX3X are one of the more common …
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 …