327 research outputs found
A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report
<p>Abstract</p> <p>Introduction</p> <p>Glycogen storage disease type Ib is an autosomal recessive transmitted disorder of glycogen metabolism caused by mutations in the glucose-6-phosphate translocase gene on chromosome 11q23 and leads to disturbed glycogenolysis as well as gluconeogenesis. Besides hepatomegaly, growth retardation, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia, patients suffer from neutropenia associated with functional defects predisposing for severe infections. In order to attenuate these complications, long-term treatment with granulocyte colony-stimulating factor is common but this is associated with an increased risk for acute myeloid leukemia or myelodysplastic syndromes in patients with inherited bone marrow failures such as severe congenital neutropenia. Onset of these myeloid malignancies is linked to cytogenetic aberrations involving chromosome 7. In addition, granulocyte colony-stimulating factor is known to stimulate proliferation of monosomy 7 cells <it>in vitro</it>. To our knowledge, we report for the first time a case report of a patient with glycogen storage disease type Ib, who developed acute myeloid leukemia with a classical monosomy 7 and acute myeloid leukemia-associated translocation t(3;8)(q26;q24) after 14 years of continuous treatment with granulocyte colony-stimulating factor.</p> <p>Case presentation</p> <p>A 28-year-old Turkish man with glycogen storage disease type Ib was admitted to our department because of dyspnea and increasing fatigue. He also presented with gum bleeding, bone pain in his legs, night sweats, recurrent episodes of fever with temperatures up to 39°C and hepatosplenomegaly.</p> <p>A blood count taken on the day of admission showed pancytopenia and a differential count displayed 30% blasts. A bone marrow biopsy was taken which showed a hypercellular marrow with dysplastic features of all three cell lines, while blast count was 20%. Classical cytogenetic analyses as well as fluorescence in situ hybridization showed a monosomy 7 with a translocation t(3;8)(q26;q24). Based on these findings, the diagnosis of acute myeloid leukemia was made.</p> <p>Conclusion</p> <p>Our observations suggest that bone marrow examinations including cytogenetic analysis should be carried out on a regular basis in patients with glycogen storage disease type Ib who are on long-term treatment with granulocyte colony-stimulating factor for severe neutropenia, since this treatment might also contribute to an increased risk for acute myeloid leukemia or myelodysplastic syndromes.</p
Sedentary time in older men and women: an international consensus statement and research priorities
Sedentary time is a modifiable determinant of poor health, and in older adults, reducing sedentary time may be an important first step in adopting and maintaining a more active lifestyle. The primary purpose of this consensus statement is to provide an integrated perspective on current knowledge and expert opinion pertaining to sedentary behaviour in older adults on the topics of measurement, associations with health outcomes, and interventions. A secondary yet equally important purpose is to suggest priorities for future research and knowledge translation based on gaps identified. A five-step Delphi consensus process was used. Experts in the area of sedentary behaviour and older adults (n=15) participated in three surveys, an in-person consensus meeting, and a validation process. The surveys specifically probed measurement, health outcomes, interventions, and research priorities. The meeting was informed by a literature review and conference symposium, and it was used to create statements on each of the areas addressed in this document. Knowledge users (n=3) also participated in the consensus meeting. Statements were then sent to the experts for validation. It was agreed that self-report tools need to be developed for understanding the context in which sedentary time is accumulated. For health outcomes, it was agreed that the focus of sedentary time research in older adults needs to include geriatric-relevant health outcomes, that there is insufficient evidence to quantify the dose-response relationship, that there is a lack of evidence on sedentary time from older adults in assisted facilities, and that evidence on the association between sedentary time and sleep is lacking. For interventions, research is needed to assess the impact that reducing sedentary time, or breaking up prolonged bouts of sedentary time has on geriatric-relevant health outcomes. Research priorities listed for each of these areas should be considered by researchers and funding agencies
Judge Jack B. Weinstein, Tort Litigation, and the Public Good: A Roundtable Discussion to Honor One of America\u27s Great Trial Judges on the Occasion of his 80th Birthday
Identified particles in Au+Au collisions at sqrt{s_NN} = 200 GeV
The yields of identified particles have been measured at RHIC for Au+Au
collisions at sqrt{s_NN} = 200 GeV using the PHOBOS spectrometer. The ratios of
antiparticle to particle yields near mid-rapidity are presented. The first
measurements of the invariant yields of charged pions, kaons and protons at
very low transverse momenta are also shown.Comment: 4 pages, 4 figures, Contribution to Quark Matter 2002, Nantes,
France, July 200
The Arecibo Legacy Fast ALFA Survey: III. HI Source Catalog of the Northern Virgo Cluster Region
We present the first installment of HI sources extracted from the Arecibo
Legacy Fast ALFA (ALFALFA) extragalactic survey, initiated in 2005. Sources
have been extracted from 3-D spectral data cubes and then examined
interactively to yield global HI parameters. A total of 730 HI detections are
catalogued within the solid angle 11h44m < R.A.(J2000) < 14h00m and +12deg <
Dec.(J2000) < +16deg, and redshift range -1600 \kms < cz < 18000 \kms. In
comparison, the HI Parkes All-Sky Survey (HIPASS) detected 40 HI signals in the
same region. Optical counterparts are assigned via examination of digital
optical imaging databases. ALFALFA HI detections are reported for three
distinct classes of signals: (a) detections, typically with S/N > 6.5; (b) high
velocity clouds in the Milky Way or its periphery; and (c) signals of lower S/N
(to ~ 4.5) which coincide spatially with an optical object of known similar
redshift. Although this region of the sky has been heavily surveyed by previous
targeted observations based on optical flux-- or size-- limited samples, 69% of
the extracted sources are newly reported HI detections. The resultant
positional accuracy of HI sources is 20" (median). The median redshift of the
sample is ~7000 \kms and its distribution reflects the known local large scale
structure including the Virgo cluster. Several extended HI features are found
in the vicinity of the Virgo cluster. A small percentage (6%) of HI detections
have no identifiable optical counterpart, more than half of which are high
velocity clouds in the Milky Way vicinity; the remaining 17 objects do not
appear connected to or associated with any known galaxy.Comment: Astronomical Journal, in pres
Residents' perceptions of a night float system
Background. A Night Float (NF) system has been implemented by many institutions to address increasing concerns about residents' work hours. The purpose of our study was to examine the perceptions of residents towards a NF system. Methods. A 115-item questionnaire was developed to assess residents' perceptions of the NF rotation as compared with a regular call month. The categories included patient care, education, medical errors, and overall satisfaction. Internal Medicine housestaff (post-graduate years 1-3) from three hospital settings at the University of Pittsburgh completed the questionnaire. Results. The response rate was 90% (n = 149). Of these, 74 had completed the NF rotation. The housestaff felt that the quality of patient care was improved because of NF (41% agreed and 18% disagreed). A majority also felt that better care was provided by a rested physician in spite of being less familiar with the patient (46% agreed and 21% disagreed). Most felt that there was less emphasis on education (65%) and more emphasis on service (52%) during NF. Overall, the residents felt more rested during their call months (83%) and strongly supported the 80-hour workweek requirement (77%). Conclusion. Housestaff felt that the overall quality of patient care was improved by a NF system. The perceived improved quality of care by a rested physician coupled with a perceived decrease in the emphasis on education may have significant implications in housestaff training. © 2009 Jasti et al; licensee BioMed Central Ltd
Analysis of Population Structure: A Unifying Framework and Novel Methods Based on Sparse Factor Analysis
We consider the statistical analysis of population structure using genetic data. We show how the two most widely used approaches to modeling population structure, admixture-based models and principal components analysis (PCA), can be viewed within a single unifying framework of matrix factorization. Specifically, they can both be interpreted as approximating an observed genotype matrix by a product of two lower-rank matrices, but with different constraints or prior distributions on these lower-rank matrices. This opens the door to a large range of possible approaches to analyzing population structure, by considering other constraints or priors. In this paper, we introduce one such novel approach, based on sparse factor analysis (SFA). We investigate the effects of the different types of constraint in several real and simulated data sets. We find that SFA produces similar results to admixture-based models when the samples are descended from a few well-differentiated ancestral populations and can recapitulate the results of PCA when the population structure is more “continuous,” as in isolation-by-distance models
Antimicrobial resistance among migrants in Europe: a systematic review and meta-analysis
BACKGROUND: Rates of antimicrobial resistance (AMR) are rising globally and there is concern that increased migration is contributing to the burden of antibiotic resistance in Europe. However, the effect of migration on the burden of AMR in Europe has not yet been comprehensively examined. Therefore, we did a systematic review and meta-analysis to identify and synthesise data for AMR carriage or infection in migrants to Europe to examine differences in patterns of AMR across migrant groups and in different settings. METHODS: For this systematic review and meta-analysis, we searched MEDLINE, Embase, PubMed, and Scopus with no language restrictions from Jan 1, 2000, to Jan 18, 2017, for primary data from observational studies reporting antibacterial resistance in common bacterial pathogens among migrants to 21 European Union-15 and European Economic Area countries. To be eligible for inclusion, studies had to report data on carriage or infection with laboratory-confirmed antibiotic-resistant organisms in migrant populations. We extracted data from eligible studies and assessed quality using piloted, standardised forms. We did not examine drug resistance in tuberculosis and excluded articles solely reporting on this parameter. We also excluded articles in which migrant status was determined by ethnicity, country of birth of participants' parents, or was not defined, and articles in which data were not disaggregated by migrant status. Outcomes were carriage of or infection with antibiotic-resistant organisms. We used random-effects models to calculate the pooled prevalence of each outcome. The study protocol is registered with PROSPERO, number CRD42016043681. FINDINGS: We identified 2274 articles, of which 23 observational studies reporting on antibiotic resistance in 2319 migrants were included. The pooled prevalence of any AMR carriage or AMR infection in migrants was 25·4% (95% CI 19·1-31·8; I2 =98%), including meticillin-resistant Staphylococcus aureus (7·8%, 4·8-10·7; I2 =92%) and antibiotic-resistant Gram-negative bacteria (27·2%, 17·6-36·8; I2 =94%). The pooled prevalence of any AMR carriage or infection was higher in refugees and asylum seekers (33·0%, 18·3-47·6; I2 =98%) than in other migrant groups (6·6%, 1·8-11·3; I2 =92%). The pooled prevalence of antibiotic-resistant organisms was slightly higher in high-migrant community settings (33·1%, 11·1-55·1; I2 =96%) than in migrants in hospitals (24·3%, 16·1-32·6; I2 =98%). We did not find evidence of high rates of transmission of AMR from migrant to host populations. INTERPRETATION: Migrants are exposed to conditions favouring the emergence of drug resistance during transit and in host countries in Europe. Increased antibiotic resistance among refugees and asylum seekers and in high-migrant community settings (such as refugee camps and detention facilities) highlights the need for improved living conditions, access to health care, and initiatives to facilitate detection of and appropriate high-quality treatment for antibiotic-resistant infections during transit and in host countries. Protocols for the prevention and control of infection and for antibiotic surveillance need to be integrated in all aspects of health care, which should be accessible for all migrant groups, and should target determinants of AMR before, during, and after migration. FUNDING: UK National Institute for Health Research Imperial Biomedical Research Centre, Imperial College Healthcare Charity, the Wellcome Trust, and UK National Institute for Health Research Health Protection Research Unit in Healthcare-associated Infections and Antimictobial Resistance at Imperial College London
T Cell Cancer Therapy Requires CD40-CD40L Activation of Tumor Necrosis Factor and Inducible Nitric-Oxide-Synthase-Producing Dendritic Cells
Effective cancer immunotherapy requires overcoming immunosuppressive tumor microenvironments. We\ua0found that local nitric oxide (NO) production by tumor-infiltrating myeloid cells is important for adoptively transferred CD8(+) cytotoxic T\ua0cells to destroy tumors. These myeloid cells are phenotypically similar to inducible nitric oxide synthase (NOS2)- and tumor necrosis factor (TNF)-producing dendritic cells (DC), or Tip-DCs. Depletion of immunosuppressive, colony stimulating factor 1 receptor (CSF-1R)-dependent arginase 1(+) myeloid cells enhanced NO-dependent tumor killing. Tumor elimination via NOS2 required the CD40-CD40L pathway. We also uncovered a strong correlation between survival of colorectal cancer patients and NOS2, CD40, and TNF expression in their tumors. Our results identify a network of pro-tumor factors that can be targeted to boost cancer immunotherapies
Evaluation of the biomarker candidate MFAP4 for non-invasive assessment of hepatic fibrosis in hepatitis C patients
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