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https://www.readbyqxmd.com/read/27914067/5q-syndrome-like-features-as-the-first-manifestation-of-myelodysplastic-syndrome-in-a-patient-with-an-unbalanced-whole-arm-translocation-der-5-19-p10-q10
#1
Hiroshi Ureshino, Haruna Kizuka, Kana Kusaba, Haruhiko Sano, Atsujiro Nishioka, Takero Shindo, Yasushi Kubota, Toshihiko Ando, Kensuke Kojima, Shinya Kimura
Derivative (5;19)(p10;q10) [der(5;19)(p10;q10)] is a rare chromosomal abnormality in myelodysplastic syndrome (MDS), and is genetically similar to deletion 5q [del(5q)]. However, MDS with der(5;19)(p10;q10) and 5q- syndrome are generally characterized as distinct subtypes. Here, we report a case of a patient with 5q- syndrome-like features as the first manifestation of MDS with der(5; 19)(p10;q10). A 59-year-old woman was admitted to our hospital for anemia without leukopenia and thrombocytopenia. She had received chemotherapy comprising carboplatin and docetaxel for endometrial cancer eight years before...
December 2, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27898738/receptor-type-protein-tyrosine-phosphatase-%C3%AE-and-colony-stimulating-factor-1-receptor-in-the-intestine-cellular-expression-and-cytokine-and-chemokine-responses-by-interleukin-34-and-colony-stimulating-factor-1
#2
Stephanie Zwicker, Daniela Bureik, Madeleen Bosma, Gisele Lago Martinez, Sven Almer, Elisabeth A Boström
Differential intestinal expression of the macrophage growth factors colony stimulating factor-1 (CSF-1), interleukin (IL)-34, and their shared CSF-1 receptor (CSF-1R) in inflammatory bowel disease (IBD) has been shown. Diverse expression between CSF-1 and IL-34, suggest that IL-34 may signal via an alternate receptor. Receptor-type protein-tyrosine phosphatase ζ (PTPRZ1, RPTP-ζ), an additional IL-34 receptor, was recently identified. Here, we aimed to assess PTPRZ1 expression in IBD and non-IBD intestinal biopsies...
2016: PloS One
https://www.readbyqxmd.com/read/27859676/microglia-and-brain-macrophages-an-update
#3
REVIEW
Atsushi Sasaki
Current immunohistochemical techniques have made the identification of microglia possible in routinely processed tissue sections from human brains. Previous studies have indicated that almost no neurological diseases exist without microglial activation. Activated microglia often secrete inflammatory cytokines in various diseases, including Alzheimer's disease, but microglial activation is not always associated with inflammation. The equation microglial activation means "neuroinflammation" is absurd and misleading...
November 18, 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27846891/cytokine-and-chemokine-alterations-in-tissue-csf-and-plasma-in-early-presymptomatic-phase-of-experimental-allergic-encephalomyelitis-eae-in-a-rat-model-of-multiple-sclerosis
#4
Nozha Borjini, Mercedes Fernández, Luciana Giardino, Laura Calzà
BACKGROUND: Experimental allergic encephalomyelitis (EAE) is the most commonly used experimental animal model for human multiple sclerosis (MS) that has been used so far to study the acute and remission-relapsing phases of the disease. Despite the vast literature on neuroinflammation onset and progression in EAE, important questions are still open regarding in particular the early asymptomatic phase between immunization and clinical onset. METHODS: In this study, we performed a time-course investigation of neuroinflammation and demyelination biomarkers in the spinal cord (SC), cerebrospinal fluid (CSF), and blood in EAE induced in dark agouti (DA) female rats compared to the controls and adjuvant-injected rats, using high-throughput technologies for gene expression and protein assays and focusing on the time-course between immunization, clinical onset (1, 5, 8 days post-immunization (DPI)), and progression (11 and 18 DPI)...
November 15, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27827431/evidence-for-a-dynamic-role-for-mononuclear-phagocytes-during-endometrial-repair-and-remodelling
#5
Fiona L Cousins, Phoebe M Kirkwood, Philippa T K Saunders, Douglas A Gibson
In women, endometrial breakdown, which is experienced as menstruation, is characterised by high concentrations of inflammatory mediators and immune cells which account for ~40% of the stromal compartment during tissue shedding. These inflammatory cells are known to play a pivotal role in tissue breakdown but their contribution to the rapid scarless repair of endometrium remains poorly understood. In the current study we used a mouse model of menstruation to investigate dynamic changes in mononuclear phagocytes during endometrial repair and remodelling...
November 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27824051/genomic-analyses-identify-recurrent-mef2d-fusions-in-acute-lymphoblastic-leukaemia
#6
Zhaohui Gu, Michelle Churchman, Kathryn Roberts, Yongjin Li, Yu Liu, Richard C Harvey, Kelly McCastlain, Shalini C Reshmi, Debbie Payne-Turner, Ilaria Iacobucci, Ying Shao, I-Ming Chen, Marcus Valentine, Deqing Pei, Karen L Mungall, Andrew J Mungall, Yussanne Ma, Richard Moore, Marco Marra, Eileen Stonerock, Julie M Gastier-Foster, Meenakshi Devidas, Yunfeng Dai, Brent Wood, Michael Borowitz, Eric E Larsen, Kelly Maloney, Leonard A Mattano, Anne Angiolillo, Wanda L Salzer, Michael J Burke, Francesca Gianni, Orietta Spinelli, Jerald P Radich, Mark D Minden, Anthony V Moorman, Bella Patel, Adele K Fielding, Jacob M Rowe, Selina M Luger, Ravi Bhatia, Ibrahim Aldoss, Stephen J Forman, Jessica Kohlschmidt, Krzysztof Mrózek, Guido Marcucci, Clara D Bloomfield, Wendy Stock, Steven Kornblau, Hagop M Kantarjian, Marina Konopleva, Elisabeth Paietta, Cheryl L Willman, Mignon L Loh, Stephen P Hunger, Charles G Mullighan
Chromosomal rearrangements are initiating events in acute lymphoblastic leukaemia (ALL). Here using RNA sequencing of 560 ALL cases, we identify rearrangements between MEF2D (myocyte enhancer factor 2D) and five genes (BCL9, CSF1R, DAZAP1, HNRNPUL1 and SS18) in 22 B progenitor ALL (B-ALL) cases with a distinct gene expression profile, the most common of which is MEF2D-BCL9. Examination of an extended cohort of 1,164 B-ALL cases identified 30 cases with MEF2D rearrangements, which include an additional fusion partner, FOXJ2; thus, MEF2D-rearranged cases comprise 5...
November 8, 2016: Nature Communications
https://www.readbyqxmd.com/read/27818336/vegetable-oil-induced-inflammatory-response-by-altering-tlr-nf-%C3%AE%C2%BAb-signalling-macrophages-infiltration-and-polarization-in-adipose-tissue-of-large-yellow-croaker-larimichthys-crocea
#7
Peng Tan, Xiaojing Dong, Kangsen Mai, Wei Xu, Qinghui Ai
High level of vegetable oil (VO) in diets could induce strong inflammatory response, and thus decrease nonspecific immunity and disease resistance in most marine fish species. The present study was conducted to investigate whether dietary VO could exert these anti-immunological effects by altering TLR-NF-κB signalling, macrophages infiltration and polarization in adipose tissue of large yellow croaker (Larimichthys crocea). Three iso-nitrogenous and iso-lipid diets with 0% (FO, fish oil, the control), 50% (FV, fish oil and vegetable oil mixed) and 100% (VO, vegetable oil) vegetable oil were fed to fish with three replicates for ten weeks...
December 2016: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/27795356/mk2-signaling-shapes-macrophage-plasticity-in-aggregatibacter-actinomycetemcomitans-induced-bone-loss
#8
Bethany A Herbert, Heidi M Steinkamp, Matthias Gaestel, Keith L Kirkwood
Aggregatibacter actinomycetemcomitans is associated with aggressive periodontal disease, which is characterized by inflammation-driven alveolar bone loss. A. actinomycetemcomitans activates the p38 mitogen activated protein kinase (MAPK) and MAPK-activated protein kinase-2 (MK2) stress pathways in macrophages that are involved in host responses. During the inflammatory process in periodontal disease, chemokines are upregulated to promote recruitment of inflammatory cells. The objective of this study was to determine the role of MK2 signaling in chemokine regulation during A...
October 17, 2016: Infection and Immunity
https://www.readbyqxmd.com/read/27780189/changes-in-the-expression-of-mir-34a-and-its-target-genes-following-spinal-cord-injury-in-rats
#9
Ying Chen, Shuyan Cao, Pingping Xu, Wei Han, Tiankai Shan, Jingying Pan, Weiwei Lin, Xue Chen, Xiaodong Wang
BACKGROUND Results from DNA microarray experiments have shown that the expression of miR-34s undergoes significant changes following spinal cord injury (SCI). The present study was designed to detect changes in the expression of miR-34s and its target genes during the acute and sub-acute stages of SCI. MATERIAL AND METHODS Luxol fast blue (LFB) staining for myelin was used to observe the differences in the general morphology of the spinal cord after SCI in a contusion model in rats. qPCR was carried out to determine the expression variation of miR-34s and its target genes during the acute and sub-acute stages of SCI...
October 25, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27776109/sall1-is-a-transcriptional-regulator-defining-microglia-identity-and-function
#10
Anne Buttgereit, Iva Lelios, Xueyang Yu, Melissa Vrohlings, Natalie R Krakoski, Emmanuel L Gautier, Ryuichi Nishinakamura, Burkhard Becher, Melanie Greter
Microglia are the resident macrophages of the central nervous system (CNS). Gene expression profiling has identified Sall1, which encodes a transcriptional regulator, as a microglial signature gene. We found that Sall1 was expressed by microglia but not by other members of the mononuclear phagocyte system or by other CNS-resident cells. Using Sall1 for microglia-specific gene targeting, we found that the cytokine receptor CSF1R was involved in the maintenance of adult microglia and that the receptor for the cytokine TGF-β suppressed activation of microglia...
December 2016: Nature Immunology
https://www.readbyqxmd.com/read/27749956/analysis-of-mutations-in-aars2-in-a-series-of-csf1r-negative-patients-with-adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia
#11
David S Lynch, Wei Jia Zhang, Rahul Lakshmanan, Justin A Kinsella, Günes Altiokka Uzun, Merih Karbay, Zeynep Tüfekçioglu, Hasmet Hanagasi, Georgina Burke, Nicola Foulds, Simon R Hammans, Anupam Bhattacharjee, Heather Wilson, Matthew Adams, Mark Walker, James A R Nicoll, Jeremy Chataway, Nick Fox, Indran Davagnanam, Rahul Phadke, Henry Houlden
Importance: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimulating factor 1) gene. The discovery that CSF1R mutations cause ALSP led to more accurate prognosis and genetic counseling for these patients in addition to increased interest in microglia as a target in neurodegeneration. However, it has been known since the discovery of the CSF1R gene that there are patients with typical clinical and radiologic evidence of ALSP who do not carry pathogenic CSF1R mutations...
October 17, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27680516/clinical-and-genetic-characterization-of-adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia-associated-with-csf1r-mutation
#12
T Konno, K Yoshida, T Mizuno, T Kawarai, M Tada, H Nozaki, S-I Ikeda, M Nishizawa, O Onodera, Z K Wszolek, T Ikeuchi
BACKGROUND AND PURPOSE: The clinical characteristics of colony stimulating factor 1 receptor (CSF1R) related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) have been only partially elucidated. METHODS: Clinical data from CSF1R mutation carriers who had been seen at our institutions or reported elsewhere were collected and analysed using a specific investigation sheet to standardize the data. RESULTS: In all, 122 cases from 90 families with CSF1R mutations were identified...
September 29, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27677742/b-cells-and-macrophages-pursue-a-common-path-toward-the-development-and-progression-of-chronic-lymphocytic-leukemia
#13
REVIEW
G Galletti, F Caligaris-Cappio, M T S Bertilaccio
The development and progression of chronic B-cell tumors depend on a complex microenvironmental network of cells that include monocyte-derived macrophages. In chronic lymphocytic leukemia (CLL) the survival of malignant cells is supported in vitro by nurse-like cells, which differentiate from CD14(+) monocytes and have been identified as tumor-associated macrophages (TAMs). The role of the monocyte/macrophage lineage in CLL has been extensively studied in vitro, but only recently has been investigated in in vivo models...
October 14, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27619214/involvement-of-the-optic-nerve-in-mutated-csf1r-induced-hereditary-diffuse-leukoencephalopathy-with-axonal-spheroids
#14
Yaqing Shu, Ling Long, Siyuan Liao, Jiezheng Yang, Jianfang Li, Wei Qiu, Yu Yang, Jian Bao, Aiming Wu, Xueqiang Hu, Zhengqi Lu
BACKGROUND: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder characterized by cerebral white matter degeneration and caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. Involvement of the optic nerves in hereditary diffuse leukoencephalopathy is rare. CASE PRESENTATION: We report the case of a 30-year-old Chinese woman with HDLS, who carried a heterozygous c.2345 G > A (p...
September 13, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27610941/genome-wide-association-study-for-semen-traits-of-the-bulls-in-chinese-holstein
#15
Chunhua Qin, Hongwei Yin, Xu Zhang, Dongxiao Sun, Qin Zhang, Jianfeng Liu, Xiangdong Ding, Yi Zhang, Shengli Zhang
A genome-wide association study (GWAS) was performed to identify markers and candidate genes for five semen traits in the Holstein bull population in China. The analyzed dataset consisted of records from 692 bulls from eight bull stations; each bull was genotyped using the Illumina BovineSNP50 BeadChip. Association tests between each trait and the 41 188 informative high-quality SNPs were achieved with gapit software. In total, 19 suggestive significant SNPs, partly located within the reported QTL regions or within or close to the reported candidate genes, associated with five semen traits were detected...
September 9, 2016: Animal Genetics
https://www.readbyqxmd.com/read/27601030/irhom2-regulates-csf1r-cell-surface-expression-and-non-steady-state-myelopoiesis-in-mice
#16
Xiaoping Qing, Lindsay D Rogers, Arthur Mortha, Yonit Lavin, Patricia Redecha, Priya D Issuree, Thorsten Maretzky, Miriam Merad, David R McIlwain, Tak W Mak, Christopher M Overall, Carl P Blobel, Jane E Salmon
CSF1R (colony stimulating factor 1 receptor) is the main receptor for CSF1 and has crucial roles in regulating myelopoeisis. CSF1R can be proteolytically released from the cell surface by ADAM17 (A disintegrin and metalloprotease 17). Here, we identified CSF1R as a major substrate of ADAM17 in an unbiased degradomics screen. We explored the impact of CSF1R shedding by ADAM17 and its upstream regulator, inactive rhomboid protein 2 (iRhom2, gene name Rhbdf2), on homeostatic development of mouse myeloid cells...
December 2016: European Journal of Immunology
https://www.readbyqxmd.com/read/27582524/macrophage-susceptibility-to-emactuzumab-rg7155-treatment
#17
Leon P Pradel, Chia-Huey Ooi, Solange Romagnoli, Michael A Cannarile, Hadassah Sade, Dominik Rüttinger, Carola H Ries
Blockade of colony-stimulating factor-1 receptor (CSF-1R) enables the therapeutic targeting of tumor-associated macrophages (TAM) in cancer patients. Various CSF-1R inhibitors, mAbs, and tyrosine kinase inhibitors are currently evaluated in early clinical trials. Presence of an alternative survival signal, such as GM-CSF, rescues human monocyte-derived macrophages from CSF-1R inhibitor-induced apoptosis. In this study, we sought to identify additional factors that mediate resistance to CSF-1R-blocking antibody RG7155 (emactuzumab)...
December 2016: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/27568332/targeted-molecular-profiling-of-rare-genetic-alterations-in-colorectal-cancer-using-next-generation-sequencing
#18
Mayank Jauhri, Akanksha Bhatnagar, Satish Gupta, Yogender Shokeen, Sachin Minhas, Shyam Aggarwal
Mutation frequencies of common genetic alterations in colorectal cancer have been in the spotlight for many years. This study highlights few rare somatic mutations, which possess the attributes of a potential CRC biomarker yet are often neglected. Next-generation sequencing was performed over 112 tumor samples to detect genetic alterations in 31 rare genes in colorectal cancer. Mutations were detected in 26/31 (83.9 %) uncommon genes, which together contributed toward 149 gene mutations in 67/112 (59.8 %) colorectal cancer patients...
October 2016: Medical Oncology
https://www.readbyqxmd.com/read/27562848/extracellular-mitochondria-and-mitochondrial-components-act-as-damage-associated-molecular-pattern-molecules-in-the-mouse-brain
#19
Heather M Wilkins, Scott J Koppel, Ian W Weidling, Nairita Roy, Lauren N Ryan, John A Stanford, Russell H Swerdlow
Mitochondria and mitochondrial debris are found in the brain's extracellular space, and extracellular mitochondrial components can act as damage associated molecular pattern (DAMP) molecules. To characterize the effects of potential mitochondrial DAMP molecules on neuroinflammation, we injected either isolated mitochondria or mitochondrial DNA (mtDNA) into hippocampi of C57BL/6 mice and seven days later measured markers of inflammation. Brains injected with whole mitochondria showed increased Tnfα and decreased Trem2 mRNA, increased GFAP protein, and increased NFκB phosphorylation...
December 2016: Journal of Neuroimmune Pharmacology: the Official Journal of the Society on NeuroImmune Pharmacology
https://www.readbyqxmd.com/read/27521343/a-csf1r-egfp-transgene-provides-a-novel-marker-for-monocyte-subsets-in-sheep
#20
Clare Pridans, Gemma M Davis, Kristin A Sauter, Zofia M Lisowski, Yolanda Corripio-Miyar, Anna Raper, Lucas Lefevre, Rachel Young, Mary E McCulloch, Simon Lillico, Elspeth Milne, Bruce Whitelaw, David A Hume
Expression of Csf1r in adults is restricted to cells of the macrophage lineage. Transgenic reporters based upon the Csf1r locus require inclusion of the highly conserved Fms-intronic regulatory element for expression. We have created Csf1r-EGFP transgenic sheep via lentiviral transgenesis of a construct containing elements of the mouse Fms-intronic regulatory element and Csf1r promoter. Committed bone marrow macrophage precursors and blood monocytes express EGFP in these animals. Sheep monocytes were divided into three populations, similar to classical, intermediate, and nonclassical monocytes in humans, based upon CD14 and CD16 expression...
September 15, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
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