Last data update: May 13, 2024. (Total: 46773 publications since 2009)
Records 1-9 (of 9 Records) |
Query Trace: Chester T[original query] |
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Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Camp KM , Parisi MA , Acosta PB , Berry GT , Bilder DA , Blau N , Bodamer OA , Brosco JP , Brown CS , Burlina AB , Burton BK , Chang CS , Coates PM , Cunningham AC , Dobrowolski SF , Ferguson JH , Franklin TD , Frazier DM , Grange DK , Greene CL , Groft SC , Harding CO , Howell RR , Huntington KL , Hyatt-Knorr HD , Jevaji IP , Levy HL , Lichter-Konecki U , Lindegren ML , Lloyd-Puryear MA , Matalon K , MacDonald A , McPheeters ML , Mitchell JJ , Mofidi S , Moseley KD , Mueller CM , Mulberg AE , Nerurkar LS , Ogata BN , Pariser AR , Prasad S , Pridjian G , Rasmussen SA , Reddy UM , Rohr FJ , Singh RH , Sirrs SM , Stremer SE , Tagle DA , Thompson SM , Urv TK , Utz JR , van Spronsen F , Vockley J , Waisbren SE , Weglicki LS , White DA , Whitley CB , Wilfond BS , Yannicelli S , Young JM . Mol Genet Metab 2014 112 (2) 87-122 New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference was convened in 2012 to address new findings, particularly the use of the medication sapropterin to treat some individuals with PKU, and to develop a research agenda. Prior to the 2012 conference, five working groups of experts and public members met over a 1-year period. The working groups addressed the following: long-term outcomes and management across the lifespan; PKU and pregnancy; diet control and management; pharmacologic interventions; and molecular testing, new technologies, and epidemiologic considerations. In a parallel and independent activity, an Evidence-based Practice Center supported by the Agency for Healthcare Research and Quality conducted a systematic review of adjuvant treatments for PKU; its conclusions were presented at the conference. The conference included the findings of the working groups, panel discussions from industry and international perspectives, and presentations on topics such as emerging treatments for PKU, transitioning to adult care, and the U.S. Food and Drug Administration regulatory perspective. Over 85 experts participated in the conference through information gathering and/or as presenters during the conference, and they reached several important conclusions. The most serious neurological impairments in PKU are preventable with current dietary treatment approaches. However, a variety of more subtle physical, cognitive, and behavioral consequences of even well-controlled PKU are now recognized. The best outcomes in maternal PKU occur when blood phenylalanine (Phe) concentrations are maintained between 120 and 360 μmol/L before and during pregnancy. The dietary management treatment goal for individuals with PKU is a blood Phe concentration between 120 and 360 μmol/L. The use of genotype information in the newborn period may yield valuable insights about the severity of the condition for infants diagnosed before maximal Phe levels are achieved. While emerging and established genotype-phenotype correlations may transform our understanding of PKU, establishing correlations with intellectual outcomes is more challenging. Regarding the use of sapropterin in PKU, there are significant gaps in predicting response to treatment; at least half of those with PKU will have either minimal or no response. A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment. New drugs that are safe, efficacious, and impact a larger proportion of individuals with PKU are needed. However, it is imperative that treatment guidelines and the decision processes for determining access to treatments be tied to a solid evidence base with rigorous standards for robust and consistent data collection. The process that preceded the PKU State-of-the-Science Conference, the conference itself, and the identification of a research agenda have facilitated the development of clinical practice guidelines by professional organizations and serve as a model for other inborn errors of metabolism. |
Limited Genetic Diversity Detected in Middle East Respiratory Syndrome-Related Coronavirus Variants Circulating in Dromedary Camels in Jordan.
Seifert SN , Schulz JE , Ricklefs S , Letko M , Yabba E , Hijazeen ZS , Holloway P , Al-Omari B , Talafha HA , Tibbo M , Adney DR , Guitian J , Amarin N , Richt JA , McDowell C , Steel J , Abu-Basha EA , Al-Majali AM , van Doremalen N , Munster VJ . Viruses 2021 13 (4) Middle East respiratory syndrome-related coronavirus (MERS-CoV) is a persistent zoonotic pathogen with frequent spillover from dromedary camels to humans in the Arabian Peninsula, resulting in limited outbreaks of MERS with a high case-fatality rate. Full genome sequence data from camel-derived MERS-CoV variants show diverse lineages circulating in domestic camels with frequent recombination. More than 90% of the available full MERS-CoV genome sequences derived from camels are from just two countries, the Kingdom of Saudi Arabia (KSA) and United Arab Emirates (UAE). In this study, we employ a novel method to amplify and sequence the partial MERS-CoV genome with high sensitivity from nasal swabs of infected camels. We recovered more than 99% of the MERS-CoV genome from field-collected samples with greater than 500 TCID(50) equivalent per nasal swab from camel herds sampled in Jordan in May 2016. Our subsequent analyses of 14 camel-derived MERS-CoV genomes show a striking lack of genetic diversity circulating in Jordan camels relative to MERS-CoV genome sequences derived from large camel markets in KSA and UAE. The low genetic diversity detected in Jordan camels during our study is consistent with a lack of endemic circulation in these camel herds and reflective of data from MERS outbreaks in humans dominated by nosocomial transmission following a single introduction as reported during the 2015 MERS outbreak in South Korea. Our data suggest transmission of MERS-CoV among two camel herds in Jordan in 2016 following a single introduction event. |
Distinct amino acid and lipid perturbations characterize acute versus chronic malaria.
Cordy RJ , Patrapuvich R , Lili LN , Cabrera-Mora M , Chien JT , Tharp GK , Khadka M , Meyer EV , Lapp SA , Joyner CJ , Garcia A , Banton S , Tran V , Luvira V , Rungin S , Saeseu T , Rachaphaew N , Pakala SB , DeBarry JD , Kissinger JC , Ortlund EA , Bosinger SE , Barnwell JW , Jones DP , Uppal K , Li S , Sattabongkot J , Moreno A , Galinski MR . JCI Insight 2019 4 (9) Chronic malaria is a major public health problem and significant challenge for disease eradication efforts. Despite its importance, the biological factors underpinning chronic malaria are not fully understood. Recent studies have shown that host metabolic state can influence malaria pathogenesis and transmission, but its role in chronicity is not known. Here, with the goal of identifying distinct modifications in the metabolite profiles of acute versus chronic malaria, metabolomics was performed on plasma from Plasmodium-infected humans and nonhuman primates with a range of parasitemias and clinical signs. In rhesus macaques infected with Plasmodium coatneyi, significant alterations in amines, carnitines, and lipids were detected during a high parasitemic acute phase and many of these reverted to baseline levels once a low parasitemic chronic phase was established. Plasmodium gene expression, studied in parallel in the macaques, revealed transcriptional changes in amine, fatty acid, lipid and energy metabolism genes, as well as variant antigen genes. Furthermore, a common set of amines, carnitines, and lipids distinguished acute from chronic malaria in plasma from human Plasmodium falciparum cases. In summary, distinct host-parasite metabolic environments have been uncovered that characterize acute versus chronic malaria, providing insights into the underlying host-parasite biology of malaria disease progression. |
Can mentorship improve laboratory quality A case study from influenza diagnostic laboratories in Southeast Europe
Polansky L , Chester S , Warren M , Aden T , Kennedy P , Spivey-Blackford S , Moen A . BMC Health Serv Res 2019 19 (1) 49 BACKGROUND: Strengthening the quality of laboratory diagnostics is a key part of building global health capacity. In 2015, the Centers for Disease Control and Prevention (CDC), the Southeast European Center for Surveillance and Control of Infectious Diseases (SECID), WHO European Regional Office (WHO EURO) and American Public Health Laboratories (APHL) collaborated to address laboratory quality training needs in Southeast Europe. Together, they developed a quality assurance (QA) mentorship program for six national laboratories (Laboratories A-E) in five countries utilizing APHL international consultants. The primary goal of the mentorship program was to help laboratories become recognized by WHO as National Influenza Centers (NICs). The program aimed to do this by strengthening influenza laboratory capacity by implementing quality management systems (QMS) action steps. After 1 year, we evaluated participants' progress by the proportion of QMS action steps they had successfully implemented, as well as the value of mentorship as perceived by laboratory mentees, mentors, and primary program stakeholders from SECID and WHO EURO. METHODS: To understand perceived value we used the qualitative method of semi-structured interviews, applying grounded theory to the thematic analysis. RESULTS: Mentees showed clear progress, having completed 32 to 68% [median: 62%] of planned QMS action steps in their laboratories. In regards to the perceived value of the program, we found strong evidence that laboratory mentorship enhances laboratory quality improvement by promoting accountability to QMS implementation, raising awareness of the importance of QMS, and fostering collaborative problem solving. CONCLUSION: In conclusion, we found that significant accomplishments can be achieved when QA programs provide dedicated technical mentorship for QMS implementation. Since the start of the mentoring, Laboratory "B" has achieved NIC recognition by WHO, while two other labs made substantial progress and are scheduled for recognition in 2018. In the future, we recommend that mentorship is more inclusive of laboratory directors, and that programs evaluate the amount of staff time needed for mentorship activities, including lab-based assessments and mentoring. |
A Pyrosequencing-Based Approach to High-Throughput Identification of Influenza A(H3N2) Virus Clades Harboring Antigenic Drift Variants.
Mishin VP , Baranovich T , Garten R , Chesnokov A , Abd Elal AI , Adamczyk M , LaPlante J , George KS , Fry AM , Barnes J , Chester SC , Xu X , Katz JM , Wentworth DE , Gubareva LV . J Clin Microbiol 2016 55 (1) 145-154 Rapid evolution of influenza A(H3N2) viruses necessitates close monitoring of their antigenic properties so emergence and spread of antigenic drift variants can be rapidly identified. Changes in hemagglutinin (HA) acquired by contemporary A(H3N2) viruses hinder antigenic characterization by traditional methods, thus complicating vaccine strain selection. Sequence-based approaches have been used to infer virus antigenicity; however, they are time-consuming and mid-throughput. To facilitate virological surveillance and epidemiological studies, we have developed and validated a pyrosequencing approach that enables identification of six HA clades of contemporary A(H3N2) viruses. The identification scheme of H3 clade 3C.2, 3C.2a, 3C.2b, 3C.3, 3C.3a and 3C.3b viruses is based on the interrogation of five SNPs within three neighboring HA regions: 412-431; 465-481; and 559-571. Two bioinformatics tools, IdentiFire (Qiagen) and FireComb (developed in-house) were utilized to expedite pyrosequencing data analysis. The assay's analytical sensitivity was 10 focus forming units; and respiratory specimens with CT value < 34 typically produced good quality pyrograms. When applied to 120 A(H3N2) virus isolates and 27 respiratory specimens, the assay displayed 100% agreement with clades determined by HA sequencing coupled with phylogenetics. The multi-SNP analysis described here was readily adopted by another laboratory with pyrosequencing capabilities. Implementation of this approach enhanced virological surveillance and epidemiological studies from 2013-2016 when over 3000 A(H3N2) viruses were examined. |
Standardizing the influenza neuraminidase inhibition assay among United States public health laboratories conducting virological surveillance
Okomo-Adhiambo M , Mishin VP , Sleeman K , Saguar E , Guevara H , Reisdorf E , Griesser RH , Spackman KJ , Mendenhall M , Carlos MP , Healey B , St George K , Laplante J , Aden T , Chester S , Xu X , Gubareva LV . Antiviral Res 2016 128 28-35 BACKGROUND: Monitoring influenza virus susceptibility to neuraminidase (NA) inhibitors (NAIs) is vital for detecting drug-resistant variants, and is primarily assessed using NA inhibition (NI) assays, supplemented by NA sequence analysis. However, differences in NI testing methodologies between surveillance laboratories results in variability of 50% inhibitory concentration (IC50) values, which impacts data sharing, reporting and interpretation. In 2011, the Centers for Disease Control and Prevention (CDC), in collaboration with the Association for Public Health Laboratories (APHL) spearheaded efforts to standardize fluorescence-based NI assay testing in the United States (U.S.), with the goal of achieving consistency of IC50 data. METHODS: For the standardization process, three participating state public health laboratories (PHLs), designated as National Surveillance Reference Centers for Influenza (NSRC-Is), assessed the NAI susceptibility of the 2011-12 CDC reference virus panel using stepwise procedures with support from the CDC reference laboratory. Next, the NSRC-Is assessed the NAI susceptibility of season 2011-12 U.S. influenza surveillance isolates (n=940), with a large subset (n=742) tested in parallel by CDC. Subsequently, U.S. influenza surveillance isolates (n=9629) circulating during the next three influenza seasons (2012-15), were independently tested by the three NSRC-Is (n=7331) and CDC (n=2298). RESULTS: The NI assay IC50s generated by respective NSRC-Is using viruses and drugs prepared by CDC were similar to those obtained with viruses and drugs prepared in-house, and were uniform between laboratories. IC50s for U.S. surveillance isolates tested during four consecutive influenza seasons (2011-15) were consistent from season to season, within and between laboratories. CONCLUSION: These results show that the NI assay is robust enough to be standardized, marking the first time IC50 data have been normalized across multiple laboratories, and used for U.S. national NAI susceptibility surveillance. |
Comparative Analytical Evaluation of the Respiratory TaqMan Array Card with Real-Time PCR and Commercial Multi-Pathogen Assays.
Harvey JJ , Chester S , Burke SA , Ansbro M , Aden T , Gose R , Sciulli R , Bai J , DesJardin L , Benfer JL , Hall J , Smole S , Doan K , Popowich MD , St George K , Quinlan T , Halse TA , Li Z , Perez-Osorio AC , Glover WA , Russell D , Reisdorf E , Whyte T Jr , Whitaker B , Hatcher C , Srinivasan V , Tatti K , Tondella ML , Wang X , Winchell JM , Mayer LW , Jernigan D , Mawle AC . J Virol Methods 2015 228 151-7 In this study, a multicenter evaluation of the Life Technologies TaqMan(R) Array Card (TAC) with 21 custom viral and bacterial respiratory assays was performed on the Applied Biosystems ViiA 7 Real-Time PCR System. The goal of the study was to demonstrate the analytical performance of this platform when compared to identical individual pathogen specific laboratory developed tests (LDTs) designed at the Centers for Disease Control and Prevention (CDC), equivalent LDTs provided by state public health laboratories, or to three different commercial multi-respiratory panels. CDC and Association of Public Health Laboratories (APHL) LDTs had similar analytical sensitivities for viral pathogens, while several of the bacterial pathogen APHL LDTs demonstrated sensitivities one log higher than the corresponding CDC LDT. When compared to CDC LDTs, TAC assays were generally one to two logs less sensitive depending on the site performing the analysis. Finally, TAC assays were generally more sensitive than their counterparts in three different commercial multi-respiratory panels. TAC technology allows users to spot customized assays and design TAC layout, simplify assay setup, conserve specimen, dramatically reduce contamination potential, and as demonstrated in this study, analyze multiple samples in parallel with good reproducibility between instruments and operators. |
Molecular signatures associated with Mx1-mediated resistance to highly pathogenic influenza virus infection: mechanisms of survival.
Cilloniz C , Pantin-Jackwood MJ , Ni C , Carter VS , Korth MJ , Swayne DE , Tumpey TM , Katze MG . J Virol 2012 86 (5) 2437-46 Understanding the role of host factors during lethal influenza virus infection is critical to deciphering the events that determine the fate of the host. One such factor is encoded by the Mx1 gene, which confers resistance to influenza virus infection. Here, we compared pathology and global gene expression profiles in lung tissue from BALB/c (Mx1(-)) and BALB . A2G-Mx1 mice (Mx1(+/+)) infected with the fully reconstructed 1918 pandemic influenza virus. Mx1(+/+) mice showed less tissue damage than Mx(-) animals, and pathology and mortality were further reduced by treating the mice with interferon prior to infection. Using global transcriptional profiling, we identified distinct molecular signatures associated with partial protection, complete protection, and the contribution of interferon to the host response. In the absence of interferon treatment, partial protection was characterized by the generation of an acute response with the upregulation of genes associated with apoptosis, reactive oxygen species, and cell migration. Complete protection was characterized by the downregulation of cytokine and chemokine genes previously associated with influenza virus pathogenesis. The contribution of interferon treatment to total protection in virus-infected Mx1(+/+) mice was characterized by the altered regulation of cell cycle genes. These genes were upregulated in Mx1(+/+) mice treated with interferon but downregulated in the absence of interferon treatment. Our results suggest that Mx1(+/+) mice generate a protective antiviral response by controlling the expression of key modulator molecules associated with influenza virus lethality. |
A clustering of immune-mediated polyradiculoneuropathy among swine abattoir workers exposed to aerosolized porcine brains, Indiana, United States
Adjemian JZ , Howell J , Holzbauer S , Harris J , Recuenco S , McQuiston J , Chester T , Lynfield R , Devries A , Belay E , Sejvar J . Int J Occup Environ Health 2009 15 (4) 331-8 In November 2007 a novel neuropathy, immune-mediated polyradiculoneuropathy (IP), was identified among workers at a Minnesota swine abattoir where a unique compressed air technique was used to remove porcine brains. An epidemiologic investigation at another abattoir in Indiana that also uses this process was launched to evaluate workers self-reporting neurologic illness compatible with IP. A nested case-control study was performed to identify cases and risk factors. Six confirmed, one probable, and three possible IP cases were detected. IP cases were 28-52 years old, of Latino origin, and 62.5% female. Onset dates ranged from April 2005-December 2007; 60% were hospitalized. IP cases at this plant were similar in clinical presentation and exposure risks to those detected in Minnesota. Swine abattoirs using similar brain extraction methods should discontinue this process. |
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