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https://www.readbyqxmd.com/read/27591990/familial-hematological-malignancies-new-idh2-mutation
#1
Walid-Sabri Hamadou, Violaine Bourdon, Sébastien Létard, Fabienne Brenet, Sofien Laarif, Sawsen Besbes, Angelo Paci, Muriel David, Virginie Penard-Lacronique, Yosra Ben Youssef, Mohamed-Adnène Laatiri, François Eisinger, Véronique Mari, Paul Gesta, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Testsuro Noguchi, Abderrahim Khélif, Chaker Ben Salem, Patrice Dubreuil, Hagay Sobol, Zohra Soua
Isocitrate dehydrogenase IDH 1 and IDH 2 mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.We targeted IDH1 and IDH2 genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.We report one IDH1 variant: c...
September 3, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/26825520/exercise-training-improves-vascular-mitochondrial-function
#2
Song-Young Park, Matthew J Rossman, Jayson R Gifford, Leena P Bharath, Johann Bauersachs, Russell S Richardson, E Dale Abel, J David Symons, Christian Riehle
Exercise training is recognized to improve cardiac and skeletal muscle mitochondrial respiratory capacity; however, the impact of chronic exercise on vascular mitochondrial respiratory function is unknown. We hypothesized that exercise training concomitantly increases both vascular mitochondrial respiratory capacity and vascular function. Arteries from both sedentary (SED) and swim-trained (EX, 5 wk) mice were compared in terms of mitochondrial respiratory function, mitochondrial content, markers of mitochondrial biogenesis, redox balance, nitric oxide (NO) signaling, and vessel function...
April 1, 2016: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/26261671/cerebellar-pleomorphic-xanthoastrocytoma-in-a-patient-with-neurofibromatosis-type-1-a-case-report-and-literature-review
#3
REVIEW
Hidehiro Takei, Emilie Rouah, Meenakshi B Bhattacharjee
Pleomorphic xanthoastrocytoma (PXA) is an uncommon tumor of young adults that typically occurs supratentorially. It is generally considered to be a low-grade, circumscribed tumor that when treated by surgical resection has a relatively favorable outcome. Cases of cerebellar PXA are rare, and those associated with neurofibromatosis type 1 (NF1) are even less common, with only 2 cases reported to date. We present herein a third case of PXA-NF1 with unusual features. A 33-year-old woman presented with a history of headache...
2015: International Journal of Clinical and Experimental Pathology
https://www.readbyqxmd.com/read/26260902/genome-wide-dna-copy-number-analysis-in-cholangiocarcinoma-using-high-resolution-molecular-inversion-probe-single-nucleotide-polymorphism-assay
#4
Alexander Arnold, Marcus Bahra, Dido Lenze, Maren Bradtmöller, Katrin Guse, Claire Gehlhaar, Hendrik Bläker, Frank L Heppner, Arend Koch
In order to study molecular similarities and differences of intrahepatic (IH-CCA) and extrahepatic (EH-CCA) cholangiocarcinoma, 24 FFPE tumor samples (13 IH-CCA, 11 EH-CCA) were analyzed for whole genome copy number variations (CNVs) using a new high-density Molecular Inversion Probe Single Nucleotide Polymorphism (MIP SNP) assay. Common in both tumor subtypes the most frequent losses were detected on chromosome 1p, 3p, 6q and 9 while gains were mostly seen in 1q, 8q as well as complete chromosome 17 and 20...
October 2015: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/24818737/which-variables-are-associated-with-patient-reported-outcomes-after-discectomy-review-of-sport-disc-herniation-studies
#5
REVIEW
John D Koerner, Jordan Glaser, Kristen Radcliff
BACKGROUND: The Spine Patient Outcomes Research Trial (SPORT) evaluated the effects of surgery versus nonoperative treatment for lumbar intervertebral disc herniation (IDH), among other pathologies. Multiple subgroup analyses have been completed since the initial publications, which have further defined which patient factors lead to better or worse patient-reported outcomes; however, the degree to which these factors influence patient-reported outcomes has not been explored. QUESTIONS/PURPOSES: We reviewed the subgroup analyses of the SPORT IDH studies to answer the following questions: (1) What factors predicted improvement in patient-reported outcomes after operative or nonoperative treatment of lumbar IDH? (2) What factors predicted worse patient-reported outcomes compared to baseline after operative or nonoperative treatment of lumbar IDH? And (3) what factors influenced patient-reported outcomes of surgery in patients with lumbar IDH? METHODS: We conducted a MEDLINE(®) search to identify the subgroup analyses of the SPORT IDH data that were responsive to our study questions...
June 2015: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/24193781/genetic-mapping-of-a-quantitative-trait-locus-qtl-that-enhances-the-shoot-differentiation-rate-in-hordeum-vulgare-l
#6
T Komatsuda, T Annaka, S Oka
A quantitative trait locus (QTL) controlling shoot differentiation from immature embryo callus was identified by linkage analysis with morphological and isozyme markers in barley, Hordeum vulgare L. Immature embryos were isolated from cvs 'Azumamugi' (difficult to differentiate), 'Kanto Nakate Gold' (easy to differentiate), their hybrids (F1) and a backcross population derived from a cross 'Azumamugi' x F1. The embryos were cultured in vitro for callus initiation and subsequent shoot differentiation. The shoot differentiation rate was closely associated with ear type (v locus), isocitrate dehydrogenase isozyme (Idh-2), and esterase isozyme (Est-11)...
July 1993: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/23701620/genetic-diversity-and-differentiation-between-palearctic-and-nearctic-populations-of-aedimorphus-aedes-vexans-meigen-1830-diptera-culicidae
#7
Bosiljka Krtinić, Ljubinka Francuski, Dušan Petrić, Vesna Milankov
Genetic diversity was studied at allozyme loci in two Palearctic and one Nearctic population of Aedimorphus (=Aedes) vexans, a species of public health and veterinary importance. The population from Serbia was the most polymorphic (P= 35%) with the highest observed heterozygosity (H(o) = 0.027). The lowest observed heterozygosity (H(o) = 0.010) was obtained for the Nearctic population. All analyses based on individual (STRUCTURE analysis) and population level (pairwise F(ST), Nm values, AMOVA, Nei's D value) revealed significant structuring between Nearctic and Palearctic populations, indicating a lack of gene flow and thus, the presence of independent gene pools...
June 2013: Journal of Vector Ecology: Journal of the Society for Vector Ecology
https://www.readbyqxmd.com/read/22547441/effects-of-prehypertension-and-hypertension-subtype-on-cardiovascular-disease-in-the-asia-pacific-region
#8
Hisatomi Arima, Yoshitaka Murakami, Tai Hing Lam, Hyeon Chang Kim, Hirotsugu Ueshima, Jean Woo, Il Suh, Xianghua Fang, Mark Woodward
The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation and Treatment of High Blood Pressure defined blood pressure (BP) levels of 120 to 139/80 to 89 mm Hg as prehypertension and those of ≥ 140/90 mm Hg as hypertension. Hypertension can be divided into 3 categories, isolated diastolic (IDH; systolic BP <140 mm Hg and diastolic BP ≥ 90 mmHg), isolated systolic (systolic BP ≥ 140 mm Hg and diastolic BP <90 mmHg), and systolic-diastolic hypertension (systolic BP ≥ 140 mm Hg and diastolic BP ≥ 90 mmHg)...
June 2012: Hypertension
https://www.readbyqxmd.com/read/22033685/-precursors-of-acute-leukemia-myelodysplastic-syndromes-and-myeloproliferative-neoplasms
#9
REVIEW
H H Kreipe
Myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) represent neoplastic proliferations of hematopoietic stem cells, which may progress to loss of differentiation and acute myeloid leukemia (AML). Transitions between MDSs and MPNs as well as combinations between both disorders occur and MPNs may acquire dysplastic features combined with cytopenia. Myelodysplastic/myeloproliferative neoplasms show dysplastic and myeloproliferative properties and have in common genetic aberrations at the stem cell level (TET2, ASXL 1, CBL, IDH 1, IDH 2, EZH2, p53, Runx1), which may be found in one cell or may affect different hematopoietic stem cells, expanding in parallel...
November 2011: Der Pathologe
https://www.readbyqxmd.com/read/22002076/isocitrate-dehydrogenase-mutations-in-gliomas-mechanisms-biomarkers-and-therapeutic-target
#10
REVIEW
Changcun Guo, Christopher J Pirozzi, Giselle Y Lopez, Hai Yan
PURPOSE OF REVIEW: Isocitrate dehydrogenases, IDH1 and IDH2, decarboxylate isocitrate to α-ketoglutarate (α-KG) and reduce NADP to NADPH. Point mutations of IDH1 and IDH2 have been discovered in gliomas. IDH mutations cause loss of native enzymatic activities and confer novel activity of converting α-KG to 2-hydroxyglutarate (2-HG). The mechanisms of IDH mutations in gliomagenesis, and their value as diagnostic, prognostic marker and therapeutic target have been extensively studied...
December 2011: Current Opinion in Neurology
https://www.readbyqxmd.com/read/21730007/the-relative-importance-of-systolic-versus-diastolic-blood-pressure-control-and-incident-symptomatic-peripheral-artery-disease-in-women
#11
RANDOMIZED CONTROLLED TRIAL
Tiffany M Powell, Robert J Glynn, Julie E Buring, Mark A Creager, Paul M Ridker, Aruna D Pradhan
Prospective data regarding risk factors for peripheral artery disease (PAD) are sparse, especially among women; the relative contribution of systolic versus diastolic blood pressure control for incident PAD has not been well studied. We evaluated the association of self-reported blood pressure control with incident symptomatic PAD in middle-aged and older women. We examined the relationship between reported hypertension and incident confirmed symptomatic PAD (n = 178) in 39,260 female health professionals aged ≥ 45 years without known vascular disease at baseline...
August 2011: Vascular Medicine
https://www.readbyqxmd.com/read/21684938/allozyme-variation-and-genetic-relationships-among-species-in-the-carex-willdenowii-complex-cyperaceae
#12
B Ford, D McQueen, R Naczi, A Reznicek
A taxonomic study by Naczi, Reznicek, and Ford (American Journal of Botany, 85, 434-447, 1998) has determined that three species (Carex willdenowii, C. basiantha, and C. superata) can be recognized within the C. willdenowii complex. To determine the amount of genetic divergence within and between these species, allozyme analyses were conducted on 14 populations distributed from Pennsylvania to eastern Texas. Seventeen loci were surveyed, 13 of which were polymorphic, with all populations being polymorphic at one or more loci...
April 1998: American Journal of Botany
https://www.readbyqxmd.com/read/21254617/-monomorphism-of-isoenzyme-loci-in-natural-and-cultivated-amaranth-amaranthus-l-populations
#13
R S Iudina, A V Zheleznov, V K Shumnyĭ
Starch gel electrophoresis was used for isozyme analysis of ADH, GDH, MDH, IDH, and ME in populations of amaranth. Experiments were performed with 93 populations and 4 cultivars. Some populations proved to be polymorphic, and this fact allowed analysis of the genetic control of the enzymes listed. The populations examined showed poor allozyme variability. Monomorphism for all loci studied was observed in 73 populations and 4 varieties. Starch gel electrophoresis was used for isozyme analysis ofADH, GDH, MDH, IDH, and ME in populations of amaranth...
November 2010: T︠S︡itologii︠a︡ i Genetika
https://www.readbyqxmd.com/read/20572933/genetic-structure-and-population-dynamics-of-the-biting-midges-culicoides-obsoletus-and-culicoides-scoticus-implications-for-the-transmission-and-maintenance-of-bluetongue
#14
E Pili, L Carcangiu, M Oppo, A Marchi
Culicoides species belonging to the Obsoletus complex (Diptera: Ceratopogonidae) have been indicated as primary bluetongue (BT) vectors in many European countries and their possible involvement in the maintenance and overwintering of BT viruses has been suggested, even in regions where Culicoides imicola Keiffer is the main vector. The Obsoletus complex includes two predominant taxa, Culicoides obsoletus (Meigen) and Culicoides scoticus Downes & Kettle. However, the role played by each species in the epidemiology of BT is still unknown...
December 2010: Medical and Veterinary Entomology
https://www.readbyqxmd.com/read/19713323/unilateral-hemispheric-proliferation-of-ivy-sign-on-fluid-attenuated-inversion-recovery-images-in-moyamoya-disease-correlates-highly-with-ipsilateral-hemispheric-decrease-of-cerebrovascular-reserve
#15
M Kawashima, T Noguchi, Y Takase, T Ootsuka, N Kido, T Matsushima
BACKGROUND AND PURPOSE: An ivy sign is considered to represent diffuse leptomeningeal collaterals found on fluid-attenuated inversion recovery (FLAIR) images of patients with Moyamoya disease. We evaluated the correlation between unilateral ivy proliferation in a hemisphere and cerebrovascular hemodynamic status to learn the clinical significance of the ivy sign. MATERIALS AND METHODS: A total of 35 patients with Moyamoya disease were included. Correlation between ivy dominance on FLAIR images and hemodynamic status with use of iodine 123 N-isopropyl-p-iodoamphetamine ((123)I-IMP) single-photon emission CT (SPECT) was evaluated...
October 2009: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/18470081/comparison-of-somatic-and-sexual-brassica-napus-sinapis-alba-hybrids-and-their-progeny-by-cytogenetic-studies-and-molecular-characterization
#16
A M Chevre, F Eber, E Margale, M C Kerlan, C Primard, F Vedel, M Delseny, G Pelletier
Reciprocal crosses were performed between Brassica napus (AACC, 2n = 38) cv. Brutor and Sinapis alba (SalSal, 2n = 24) cv. Carine. Using fertilized ovary culture, 2.2 and 1.9% of interspecific hybrids were produced when white mustard was the female and the male parent, respectively. On S. alba cytoplasm, three plants with a BC1-like structure (SalSalAC, 2n = 43) were obtained and ACSal (2n = 31) and AACCSal (2n = 50) hybrids on reciprocal crosses. At the same ploidy level, no differences in meiotic behavior were observed...
June 1994: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/17584221/genetic-differentiation-and-natural-hybridization-between-the-sardinian-endemic-maniola-nurag-and-the-european-maniola-jurtina
#17
A Grill, L E L Raijmann, W VAN Ginkel, E Gkioka, S B J Menken
The Mediterranean island of Sardinia is known for its multitude of unique genetic lineages. We view one of them in a larger phylogeographic context. The endemic Sardinian Meadow Brown butterfly, Maniola nurag, is restricted to the mountainous areas of the island, whereas its widespread close relative, Maniola jurtina, also occurs on the coast. At intermediate altitudes the species' distributions overlap. There, a number of individuals exhibit phenotypic characteristics intermediate between the two species. We examined patterns of intra- and interpopulation variation in 10 M...
July 2007: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/16028164/infective-dermatitis-and-human-t-cell-lymphotropic-virus-type-1-associated-myelopathy-tropical-spastic-paraparesis-in-childhood-and-adolescence
#18
Janeusa Rita L Primo, Carlos Brites, Maria de Fátima S P de Oliveira, Otávio Moreno-Carvalho, Marcos Machado, Achiléa L Bittencourt
BACKGROUND: Human T cell lymphotropic virus type 1 (HTLV-1)-associated infective dermatitis (IDH) is a chronic and recurrent eczema occurring during childhood and adolescence. HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic myelopathy of adulthood, presenting with slowly progressive spastic paraparesis and sphincter dysfunction with mild sensory involvement. There are few reports describing an association between IDH and HAM/TSP. The objective of this study was to evaluate the occurrence of HAM/TSP in patients with IDH and in seropositive members of their families and to determine the blood levels of antibodies against HTLV-1 in patients with HAM/TSP...
August 15, 2005: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/15174283/-high-level-of-polymorphism-and-autotetraploid-origin-of-rare-endemic-species-of-fabaceae-oxytropis-chankaensis-jurtz-inferred-from-allozyme-data
#19
A B Kholina, O G Koren', Iu N Zhuravlev
Using starch electrophoresis, we examined 19 enzyme systems presumably controlled by 35 loci in the rare endemic tetraploid species Oxytropis chankaensis Jurtz. (Fabaceae). Electrophoretic patterns and their genetic interpretation are presented. The isozyme data suggest tetrasomic inheritance in O. chankaensis. Three or four alleles at a particular locus were found in a number of individual plants, which indicate the autotetraploid origin of this species. Seventeen loci were shown to be polymorphic. As reliable gene markers for population systems, we recommend highly active polymorphic systems showing good allozyme separation (Ce-2, Gpi-2, Gpt-2, Idh-2, Lap, Mdh-2, and Mdh-3)...
April 2004: Genetika
https://www.readbyqxmd.com/read/12776599/genetic-studies-on-eight-populations-of-eight-locust-species-from-shanxi-province-china
#20
Chun-Xuan Li, Yi-Hao Duan, Xian-Yun Zheng, En-Bo Ma
The genetic structure of eight locust species in three families (Catantopidae, Oedipodidae and Arcypteridae) from Shanxi Province in China was compared using allozyme analysis with horizontal starch gel electrophoresis. Among 17 loci identified in zymograms, Ao-1, Est-3, G3pd-1, Idh-2 and Mdh-2 had low variability with a few alleles. High polymorphism was observed at Ldh-1, Me-1 and Gpi-1. Each of the eight species demonstrated high percentage of polymorphic loci (P = 64.7%-94.1%) but low observed heterozygosity (H0 = 0...
February 2003: Yi Chuan Xue Bao, Acta Genetica Sinica
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