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https://www.readbyqxmd.com/read/27914109/bcor-upregulation-in-a-poorly-differentiated-synovial-sarcoma-with-ss18l1-ssx1-fusion-a-pathologic-and-molecular-pitfall
#1
Yu-Chien Kao, Yun-Shao Sung, Lei Zhang, Samuel Kenan, Samuel Singer, William D Tap, David Swanson, Brendan C Dickson, Cristina R Antonescu
The diagnosis of poorly differentiated synovial sarcoma (PD-SS) may be challenging due to overlapping morphologic features with other undifferentiated round cell sarcomas (URCS). Particularly relevant is the histologic overlap and shared BCOR overexpression between a subset of SS and URCS with various BCOR genetic abnormalities. Here we report a case of PD-SS lacking the canonical SS18-SSX gene fusion, but showing strong BCOR immunoreactivity and BCOR gene abnormalities by FISH which were misinterpreted as a URCS with BCOR gene rearrangements...
December 3, 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27913997/mega-cecum-an-unrecognized-cause-of-symptoms-in-some-female-patients-with-uro-gynecological-symptoms-and-severe-slow-transit-constipation
#2
William Y Chey, Vincent Chang, Cameron M Hoellrich, Kae Yol Lee, Maxine Lubkin, Deborah Corcoran, Ta-Min Chang, William D Chey
BACKGROUND: A subset of female patients with severe constipation report overlapping uro-gynecological symptoms which have been attributed to visceral hypersensitivity. AIMS: To study colon morphology and motor function in female patients with medically refractory chronic constipation with or without uro-gynecological symptoms and to assess clinical outcomes following laparoscopic ileo-proctostomy. METHODS: Colon anatomy and cecal emptying time were assessed with plain films and fluoroscopy following a standardized test meal mixed with barium...
December 2, 2016: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/27913833/tight-repulsion-linkage-between-sr36-and-sr39-was-revealed-by-genetic-cytogenetic-and-molecular-analyses
#3
Bosco Chemayek, Urmil K Bansal, Naeela Qureshi, Peng Zhang, William W Wagoire, Harbans S Bariana
The shortening of Aegilops speltoides segment did not facilitate recombination between stem rust resistance genes Sr36 and Sr39 . Robustness of marker rwgs28 for marker-assisted selection of Sr39 was demonstrated. Stem rust resistance genes Sr39 and Sr36 were transferred from Aegilops speltoides and Triticum timopheevii, respectively, to chromosome 2B of wheat. Genetic stocks RL6082 and RWG1 carrying Sr39 on a large and a shortened Ae. speltoides segments, respectively, and the Sr36-carrying Australian wheat cultivar Cook were used in this study...
December 2, 2016: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/27913827/intra-lesional-spatial-correlation-of-static-and-dynamic-fet-pet-parameters-with-mri-based-cerebral-blood-volume-in-patients-with-untreated-glioma
#4
Jens Göttler, Mathias Lukas, Anne Kluge, Stephan Kaczmarz, Jens Gempt, Florian Ringel, Mona Mustafa, Bernhard Meyer, Claus Zimmer, Markus Schwaiger, Stefan Förster, Christine Preibisch, Thomas Pyka
PURPOSE: (18)F-fluorethyltyrosine-(FET)-PET and MRI-based relative cerebral blood volume (rCBV) have both been used to characterize gliomas. Recently, inter-individual correlations between peak static FET-uptake and rCBV have been reported. Herein, we assess the local intra-lesional relation between FET-PET parameters and rCBV. METHODS: Thirty untreated glioma patients (27 high-grade) underwent simultaneous PET/MRI on a 3 T hybrid scanner obtaining structural and dynamic susceptibility contrast sequences...
December 2, 2016: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/27913726/competitive-binding-between-seryl-trna-synthetase-yy1-complex-and-nfkb1-at-the-distal-segment-results-in-differential-regulation-of-human-vegfa-promoter-activity-during-angiogenesis
#5
Chuan-Yang Fu, Po-Chun Wang, Huai-Jen Tsai
Vascular endothelial growth factor (VEGF) plays a pivotal role in angiogenesis. Previous studies focused on transcriptional regulation modulated by proximal upstream cis-regulatory elements (CREs) of the human vegfa promoter. However, we hypothesized that distal upstream CREs may also be involved in controlling vegfa transcription. In this study, we found that the catalytic domain of Seryl-tRNA synthetase (SerRS) interacted with transcription factor Yin Yang 1 (YY1) to form a SerRS/YY1 complex that negatively controls vegfa promoter activity through binding distal CREs at -4654 to -4623 of vegfa Particularly, we demonstrated that the -4654 to -4623 segment, which predominantly controls vegfa promoter activity, is involved in competitive binding between SerRS/YY1 complex and NFKB1...
December 1, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27913577/metabolite-profiling-of-lada-challenges-the-view-of-a-metabolically-distinct-subtype
#6
Mahmoud Al-Majdoub, Arslan Ali, Petter Storm, Anders Rosengren, Leif Groop, Peter Spégel
Latent autoimmune diabetes in adults (LADA) usually refers to GADAb positive diabetes with onset after 35 years of age and no insulin treatment within the first 6 months after diagnosis. However, it is not always easy to distinguish LADA from type 1 or type 2 diabetes.In this study we examined whether metabolite profiling could help to distinguish LADA (N=50) from type 1 (N=50) and type 2 diabetes (N=50).Out of 123 identified metabolites, 99 differed between the diabetes types. However, no unique metabolite profile could be identified for any of the types...
December 2, 2016: Diabetes
https://www.readbyqxmd.com/read/27913570/revisiting-the-human-polypeptide-galnac-t1-and-t13-paralogs
#7
María Florencia Festari, Felipe Trajtenberg, Nora Berois, Sergio Pantano, Leslie Revoredo, Yun Kong, Patricia Solari-Saquieres, Yoshiki Narimatsu, Teresa Freire, Sylvie Bay, Carlos Robello, Jean Bénard, Thomas A Gerken, Henrik Clausen, Eduardo Osinaga
Polypeptide GalNAc-transferases (GalNAc-Ts) constitute a family of 20 human glycosyltransferases (comprising 9 subfamilies), which initiate mucin-type O-glycosylation. The O-glycoproteome is thought to be differentially regulated via the different substrate specificities and expression patterns of each GalNAc-T isoforms. Here, we present a comprehensive in vitro analysis of the peptide substrate specificity of GalNAc-T13, showing that it essentially overlaps with the ubiquitous expressed GalNAc-T1 isoform found in the same subfamily as T13...
November 22, 2016: Glycobiology
https://www.readbyqxmd.com/read/27913487/venous-thromboembolism-and-stroke-in-pregnancy
#8
Kelley McLean, Mary Cushman
Pregnancy and the postpartum period substantially increase the risk for thrombotic events. Although the absolute risk for thrombosis is low, these events comprise a significant portion of maternal morbidity and mortality. The vast majority of such events are venous, although the risk for ischemic stroke also appears to be increased in pregnancy. This review will explore the overlapping and unique risk factors for venous and arterial thrombosis in pregnancy. Diagnosis and prevention will be discussed, and treatment will be briefly touched on...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913460/autoimmune-and-other-acquired-neutropenias
#9
Peter E Newburger
This educational review addresses the diagnostic evaluation of patients for autoimmune and other forms of acquired neutropenia, including the futility of deconstructing the overlap of chronic "autoimmune," "benign," and "idiopathic" categories. Isolated neutropenias caused by infection, drugs, and immunologic disorders are also addressed. Discussion of management options emphasizes a conservative approach, with largely supportive care for these mostly benign and self-limited disorders.
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913454/the-anti-bat-strategy-of-ultrasound-absorption-the-wings-of-nocturnal-moths-bombycoidea-saturniidae-absorb-more-ultrasound-than-the-wings-of-diurnal-moths-chalcosiinae-zygaenoidea-zygaenidae
#10
Athanasios Ntelezos, Francesco Guarato, James F C Windmill
The selection pressure from echolocating bats has driven the development of a diverse range of anti-bat strategies in insects. For instance, several studies have proposed that the wings of some moths absorb a large portion of the sound energy contained in a bat's ultrasonic cry; as a result, the bat receives a dampened echo, and the moth becomes invisible to the bat. To test the hypothesis that greater exposure to bat predation drives the development of higher ultrasound absorbance, we used a small reverberation chamber to measure the ultrasound absorbance of the wings of nocturnal (Bombycoidea: Saturniidae) and diurnal moths (Chalcosiinae: Zygaenoidea: Zygaenidae)...
December 2, 2016: Biology Open
https://www.readbyqxmd.com/read/27913441/size-and-vitreomacular-attachment-of-primary-full-thickness-macular-holes
#11
Elise Philippakis, Franck Amouyal, Aude Couturier, Elise Boulanger-Scemama, Alain Gaudric, Ramin Tadayoni
PURPOSE: To study the relationship between the size of primary full-thickness macular hole (MH) and the vitreomacular attachment status. DESIGN: Single-centre retrospective observational case series. METHODS: The records of 100 consecutive eyes operated for primary full-thickness MH were retrospectively reviewed. The vitreous status and MH diameter were assessed on the preoperative optical coherence tomography scans. MH were classified depending on the presence or absence of vitreomacular traction (VMT) and their size as small (<250 µm), medium (250-400 µm) and large (>400 µm), as suggested in the International VMT Study Group Classification...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27913359/network-unfolding-map-by-vertex-edge-dynamics-modeling
#12
Filipe Alves Neto Verri, Paulo Roberto Urio, Liang Zhao
The emergence of collective dynamics in neural networks is a mechanism of the animal and human brain for information processing. In this paper, we develop a computational technique using distributed processing elements in a complex network, which are called particles, to solve semisupervised learning problems. Three actions govern the particles' dynamics: generation, walking, and absorption. Labeled vertices generate new particles that compete against rival particles for edge domination. Active particles randomly walk in the network until they are absorbed by either a rival vertex or an edge currently dominated by rival particles...
November 29, 2016: IEEE Transactions on Neural Networks and Learning Systems
https://www.readbyqxmd.com/read/27913282/proteomics-provides-insights-into-biological-pathways-altered-by-plant-growth-promoting-bacteria-and-arbuscular-mycorrhiza-in-sorghum-grown-in-marginal-soil
#13
Faten Dhawi, Rupali Datta, Wusirika Ramakrishna
Sorghum is an economically important crop, a model system for gene discovery and a biofuel source. Sorghum seedlings were subjected to three microbial treatments, plant growth promoting bacteria (B), arbuscular mycorrhizal (AM) fungi mix with two Glomus species (G. aggregatum and G. etunicatum), Funelliformis mosseae and Rhizophagus irregularis (My), and B and My combined (My+B). Proteomic analysis was conducted followed by integration with metabolite, plant biomass and nutrient data. Out of 366 differentially expressed proteins in sorghum roots, 44 upregulated proteins overlapping among three treatment groups showed positive correlation with sorghum biomass or element uptake or both...
November 29, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27913246/measuring-content-overlap-during-handoff-communication-using-distributional-semantics-an-exploratory-study
#14
Joanna Abraham, Thomas Kannampallil, Vignesh Srinivasan, William Galanter, Gail Tagney, Trevor Cohen
OBJECTIVE: We develop and evaluate a methodological approach to measure the degree and nature of overlap in handoff communication content within and across clinical professions. This extensible, exploratory approach relies on combining techniques from conversational analysis and distributional semantics. MATERIALS AND METHODS: We audio-recorded handoff communication of residents and nurses on the General Medicine floor of a large academic hospital (n=120 resident and n=120 nurse handoffs)...
November 29, 2016: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/27912793/antibodies-against-carbamylated-proteins-and-cyclic-citrullinated-peptides-in-systemic-lupus-erythematosus-results-from-two-well-defined-european-cohorts
#15
Michael Ziegelasch, Myrthe A M van Delft, Philip Wallin, Thomas Skogh, César Magro-Checa, Gerda M Steup-Beekman, Leendert A Trouw, Alf Kastbom, Christopher Sjöwall
BACKGROUND: Articular manifestations are common in systemic lupus erythematosus (SLE) whereas erosive disease is not. Antibodies to cyclic citrullinated peptide (anti-CCP) are citrulline-dependent in rheumatoid arthritis (RA), whereas the opposite is suggested in SLE, as reactivity with cyclic arginine peptide (CAP) is typically present. Antibodies targeting carbamylated proteins (anti-CarP) may occur in anti-CCP/rheumatoid factor (RF)-negative cases long before clinical onset of RA. We analysed these antibody specificities in sera from European patients with SLE in relation to phenotypes, smoking habits and imaging data...
December 3, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27912737/hcv-prevalence-can-predict-hiv-epidemic-potential-among-people-who-inject-drugs-mathematical-modeling-analysis
#16
Vajiheh Akbarzadeh, Ghina R Mumtaz, Susanne F Awad, Helen A Weiss, Laith J Abu-Raddad
BACKGROUND: Hepatitis C virus (HCV) and HIV are both transmitted through percutaneous exposures among people who inject drugs (PWID). Ecological analyses on global epidemiological data have identified a positive association between HCV and HIV prevalence among PWID. Our objective was to demonstrate how HCV prevalence can be used to predict HIV epidemic potential among PWID. METHODS: Two population-level models were constructed to simulate the evolution of HCV and HIV epidemics among PWID...
December 3, 2016: BMC Public Health
https://www.readbyqxmd.com/read/27912315/genetics-of-infectious-and-inflammatory-diseases-overlapping-discoveries-from-association-and-exome-sequencing-studies
#17
David Langlais, Nassima Fodil, Philippe Gros
Genome technologies have defined a complex genetic architecture in major infectious, inflammatory, and autoimmune disorders. High density marker arrays and Immunochips have powered genome-wide association studies (GWAS) that have mapped nearly 450 genetic risk loci in 22 major inflammatory diseases, including a core of common genes that play a central role in pathological inflammation. Whole-exome and whole-genome sequencing have identified more than 265 genes in which mutations cause primary immunodeficiencies and rare forms of severe inflammatory bowel disease...
December 1, 2016: Annual Review of Immunology
https://www.readbyqxmd.com/read/27912214/common-cold-an-umbrella-term-for-acute-infections-of-nose-throat-larynx-and-bronchi
#18
P Kardos, F A Malek
Acute respiratory tract infections, i. e. rhinitis, sinusitis, pharyngitis, laryngitis, bronchitis, belong to the most common medical conditions with a high economic burden. Nonetheless, there is little agreement concerning their differential diagnosis.This paper will discuss to what extent different anatomical sites of acute respiratory tract infections can be uniquely identified or whether the overlap and consecutive development in signs and symptoms renders these distinctions meaningless.Acute respiratory tract infections are variable but definition of diagnostic categories based on the anatomical sites of the dominant complaints shows that signs and symptoms both overlap to a great extent and/or emerge successively...
December 2, 2016: Pneumologie
https://www.readbyqxmd.com/read/27912104/structured-skill-practice-during-intensive-bimanual-training-leads-to-better-trunk-and-arm-control-than-unstructured-practice-in-children-with-unilateral-spastic-cerebral-palsy
#19
Ya-Ching Hung, Marina B Brandão, Andrew M Gordon
BACKGROUND: Recently, intensive practice showed good efficacy in improving upper extremity function for children with unilateral spastic cerebral palsy (USCP). However, little is known about the significance of skill progression frequently used during intensive practice. AIMS: We evaluate the importance of skill progression during intensive bimanual practice on movement coordination. METHODS AND PROCEDURES: Twenty children with USCP (average age: 8...
November 29, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27912058/impaired-amino-acid-transport-at-the-blood-brain-barrier-is-a-cause-of-autism-spectrum-disorder
#20
Dora C Tărlungeanu, Elena Deliu, Christoph P Dotter, Majdi Kara, Philipp Christoph Janiesch, Mariafrancesca Scalise, Michele Galluccio, Mateja Tesulov, Emanuela Morelli, Fatma Mujgan Sonmez, Kaya Bilguvar, Ryuichi Ohgaki, Yoshikatsu Kanai, Anide Johansen, Seham Esharif, Tawfeg Ben-Omran, Meral Topcu, Avner Schlessinger, Cesare Indiveri, Kent E Duncan, Ahmet Okay Caglayan, Murat Gunel, Joseph G Gleeson, Gaia Novarino
Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter localized at the blood brain barrier (BBB), has an essential role in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation, and severe neurological abnormalities...
December 1, 2016: Cell
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