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Sample records for t11 22q24 q12

  1. Type 1 (11; 22)(q24: q12) translocation is common in Ewing's ...

    Indian Academy of Sciences (India)

    Department of Molecular Oncology, Cancer Institute (WIA), Adyar, Chennai 600 020, India; Department of Pathology, Cancer Institute (WIA), Adyar, Chennai 600 020, India; Department of Biochemistry, Cancer Institute (WIA), Adyar, Chennai 600 020, India; Department of Immunology/Hematology, Cancer Institute (WIA), ...

  2. Coexpression of NUP98/TOP1 and TOP1/NUP98 in de novo Acute Myeloid Leukemia with t(11;20)(p15;q12) and t(2;5)(q33;q31).

    Science.gov (United States)

    Yamamoto, Katsuya; Minami, Yosuke; Yakushijin, Kimikazu; Mizutani, Yu; Inui, Yumiko; Kawamoto, Shinichiro; Matsui, Keiji; Nakamachi, Yuji; Kawano, Seiji; Matsuoka, Hiroshi; Minami, Hironobu

    2016-01-01

    The t(11;20)(p15;q11∼12) translocation is a very rare but recurrent cytogenetic aberration that occurs in myelodysplastic syndrome/acute myeloid leukemia (MDS/AML). This translocation was shown to form a fusion gene between NUP98 at 11p15 and TOP1 at 20q12. Here, we describe a new case of de novo AML M2 with t(11;20) which was associated with another balanced translocation. An 81-year-old man was admitted to undergo salvage therapy for relapsed AML. G-banding and spectral karyotyping showed 46,XY,t(2;5)(q33;q31),t(11;20)(p15;q12)[20]. Expression of the NUP98/TOP1 fusion transcript was confirmed: NUP98 exon 13 was in-frame fused with TOP1 exon 8. The reciprocal TOP1/NUP98 fusion transcript was also detected: TOP1 exon 7 was fused with NUP98 exon 14. After achieving hematological complete remission, the karyotype converted to 46,XY,t(2;5)(q33;q31)[19]/46,sl,t(11;20)(p15;q12)[1]. FISH analysis demonstrated that the 5q31 breakpoint of t(2;5) was centromeric to EGR1. In all 10 cases described in the literature, the NUP98 exon 13/TOP1 exon 8 fusion transcript was expressed, indicating that it may be responsible for the pathogenesis of MDS/AML with t(11;20). On the other hand, the TOP1/NUP98 transcript was coexpressed in 4 cases of de novo AML, but not in 3 cases of therapy-related MDS. Thus, this reciprocal fusion may be associated with progression to AML. © 2017 S. Karger AG, Basel.

  3. Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12)

    DEFF Research Database (Denmark)

    Panagopoulos, Ioannis; Kerndrup, Gitte; Carlsen, Niels

    2007-01-01

    Three NUP98 chimaeras have previously been reported in T cell acute lymphoblastic leukaemia (T-ALL): NUP98/ADD3, NUP98/CCDC28A, and NUP98/RAP1GDS1. We report a T-ALL with t(11;18)(p15;q12) resulting in a novel NUP98 fusion. Fluorescent in situ hybridisation showed NUP98 and SET binding protein 1......(SETBP1) fusion signals; other analyses showed that exon 12 of NUP98 was fused in-frame with exon 5 of SETBP1. Nested polymerase chain reaction did not amplify the reciprocal SETBP1/NUP98, suggesting that NUP98/SETBP1 transcript is pathogenetically important. SETBP1 has previously not been implicated...

  4. Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12).

    Science.gov (United States)

    Panagopoulos, Ioannis; Kerndrup, Gitte; Carlsen, Niels; Strömbeck, Bodil; Isaksson, Margareth; Johansson, Bertil

    2007-01-01

    Three NUP98 chimaeras have previously been reported in T cell acute lymphoblastic leukaemia (T-ALL): NUP98/ADD3, NUP98/CCDC28A, and NUP98/RAP1GDS1. We report a T-ALL with t(11;18)(p15;q12) resulting in a novel NUP98 fusion. Fluorescent in situ hybridisation showed NUP98 and SET binding protein 1(SETBP1) fusion signals; other analyses showed that exon 12 of NUP98 was fused in-frame with exon 5 of SETBP1. Nested polymerase chain reaction did not amplify the reciprocal SETBP1/NUP98, suggesting that NUP98/SETBP1 transcript is pathogenetically important. SETBP1 has previously not been implicated in leukaemias; however, it encodes a protein that specifically interacts with SET, fused to NUP214 in a case of acute undifferentiated leukaemia.

  5. A t (11; 22 (p13; q12 EWS-WT 1 positive desmoplastic small round cell tumor of the maxilla: An unusual case indicating the role of molecular diagnosis in round cell sarcomas

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    Rekhi B

    2010-01-01

    Full Text Available A desmoplastic small round cell tumor (DSRCT is an uncommon tumor characterized by polyphenotypic expression and a specific reciprocal translocation t (11; 22 (p13; q12. It has been rarely identified in the head and neck region. Herein, we describe a DSRCT in the maxilla of a young man, who was initially diagnosed with a primitive neuroectodermal tumor (PNET, based on histopathological appearance of a round cell tumor, with MIC2 and -FLI-1 positivity, on immunohistochemistry (IHC. Diagnosis of a DSRCT was confirmed on molecular analysis with positive -RT-PCR and sequencing results for EWS-WT1 transcript and negativity for EWS-FL1. The case is presented to highlight the value of molecular diagnosis in round cell sarcomas at uncommon sites, especially when similar IHC markers can be expressed in a PNET and a DSRCT. An exact diagnosis of a round cell sarcoma has a therapeutic relevance.

  6. De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation.

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    Cappellacci, S; Martinelli, S; Rinaldi, R; Martinelli, E; Parisi, P; Mancini, B; Pescosolido, R; Grammatico, P

    2006-06-01

    We present a patient with a de novo 12q nonmosaic pure duplication characterized by multiple minor anomalies and Dandy-Walker malformation. A neurological and behavioral assessment revealed psychomotor retardation and attention deficit/hyperactivity disorder (ADHD), with neurobehavioral abnormalities (auto- and heteroaggressive behavior). Fluoxetine therapy in this case markedly improved the neurobehavioral profile, with a decreased level of aggression. To define the extension of the duplicated region, we performed FISH analyses by using YAC probes. The analyses revealed a tandem duplication of the 12q22q24.33 region, with the proximal breakpoint located between 96.5 and 97.6 cM and the distal one between 154 and 161 cM. This is the first case of pure de novo duplication involving the 12q22q24.33 region. To better define the clinical phenotype associated with 12q partial duplication, we compared our case with the four patients with similar pure duplications previously described. Copyright 2006 Wiley-Liss, Inc.

  7. Genetics Home Reference: 17q12 duplication

    Science.gov (United States)

    ... of affected individuals have an unusually small head ( microcephaly ). Less commonly, 17q12 duplications have been associated with ... MedlinePlus (6 links) Encyclopedia: Autism Spectrum Disorder Encyclopedia: Microcephaly Encyclopedia: Schizophrenia Health Topic: Developmental Disabilities Health Topic: ...

  8. Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10].

    Science.gov (United States)

    Hu, Hua; Yao, Hong; Dong, Yanlin; Long, Yang; Xu, Liang; Hu, Bing; Xu, Gang; Liang, Zhiqing

    2014-08-01

    We examined a man and his daughter, who both had different jumping translocation karyotypes. The man's wife was pregnant and had been referred for prenatal diagnosis of the fetus. The karyotype of the husband's peripheral blood lymphocytes was 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10]. The karyotype of the daughter's peripheral blood lymphocytes was 45,XX,der(16)t(16;22)(q24;q11.2), -22 [45]/45,XX,der(9)t(9;22)(q34;q11.2), -22 [30]/45,XX,der(5)t(5;22)(q35;q11.2), -22 [25]. The wife and the fetus both had a normal karyotype. To the best of our knowledge, the present familial transmitted jumping translocation has not been previously described and the jumping translocation in the husband and daughter did not cause any phenotypic abnormalities. © 2014 Wiley Periodicals, Inc.

  9. Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality

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    Chih-Ping Chen

    2016-12-01

    Conclusion: The 17q12 microduplication may present with variable phenotypes including no apparent phenotypic abnormality in familial cases. However, neuropsychiatry assessment and monitoring should be warranted in childhood and through adulthood under such a circumstance.

  10. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].

    Science.gov (United States)

    Jiang, Y L; Qi, Q W; Zhou, X Y; Geng, F F; Bai, J J; Hao, N; Liu, J T

    2017-10-25

    Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys. These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation. Results: The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal. CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region. Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion: 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys. A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.

  11. 'Cut in two', Part 2: Reconsidering the redaction of Q 12:42−46

    African Journals Online (AJOL)

    2015-06-24

    Jun 24, 2015 ... In his influential 1987 monograph, Kloppenborg identified three layers in the Sayings Gospel. Q: the 'formative stratum' (or Q¹), the 'main redaction' (or Q²), and the 'final recension'. (or Q³). He ascribed the cluster of sayings in Q 12:39–59 to the main redaction. Within this cluster appears the parable of the ...

  12. Tetrasomy 15q12 in a patient with Angelman-like syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ringer, K. [Univ. of Missouri School of Medicine, Kansas City, MO (United States); Huang, B.; Christian, S. [National Center for Human Genome Research, Bethesda, MD (United States)] [and others

    1994-09-01

    Supernumerary psu dic(15;15) chromosomes make up approximately 40% of livebirths possessing marker chromosomes. Markers with various chromosomal contents as well as a spectrum of phenotypes have been described. A few individuals with Angelman syndrome (AS) who have paternal uniparental disomy (UPD) for chromosome 15 or a 15q12 deletion in addition to a supernumerary psu dic(15;15) have been reported. We studied a patient who had a clinical phenotype consistent with AS including ataxic gait, severe mental retardation, absent speech and inappropriate laughter. Cytogenetic and FISH analysis showed a 47,XX,+psu dic(15q12;15q12) karyotype in which the supernumerary chromosome was positive for DNA probes in the AS critical region. Additional molecular analyses confirmed the presence of four copies of the 15q11{r_arrow}13 segment and that the psu dic(15;15) was maternal in origin. Two distal chromosome 15 markers showed normal, biparental inheritance for the two normal 15 homologues. A patient similar to ours was outlined by Stupca et al., although results of DNA analyses and parental origin were not given. In both patients, tetrasomy 15q12 resulted in an AS phenotype. The significance of the ratio of maternally:paternally derived sequences, 3:1 in our case, is unknown at present.

  13. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

    DEFF Research Database (Denmark)

    Mefford, Heather C; Clauin, Severine; Sharp, Andrew J

    2007-01-01

    of the microdeletions, identified in a fetus with multicystic dysplastic kidneys, encompasses the TCF2 gene on 17q12, previously shown to be mutated in maturity-onset diabetes, as well as in a subset of pediatric renal abnormalities. Fine-scale mapping of the breakpoints in different patient cohorts revealed...

  14. Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.

    Science.gov (United States)

    Luo, Hong; Xie, Li; Wang, Shou-Zheng; Chen, Jin-Lan; Huang, Can; Wang, Jian; Yang, Jin-Fu; Zhang, Wei-Zhi; Yang, Yi-Feng; Tan, Zhi-Ping

    2012-11-01

    Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication on chromosome 8q12 with SNP-array in a patient with growth delay, congenital heart defects, ear anomalies and torticollis. To our knowledge, this is the smallest duplication reported to date. Our findings support the notion that increased copy number of CHD7 may underlie the phenotype of the 8q12 duplication. Our study together with previous studies suggest that the 8q12 duplication could be defined as a novel syndrome. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  15. Extra skeletal Soft Tissue Ewing’s Sarcoma with Variant Translocation of Chromosome t (4; 22 (q35; q12-A Case Report

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    Prashanth Nagaraj

    2013-10-01

    Full Text Available Introduction: Ewing’s sarcomas is a rare primitive neuroectodermal tumour (PNET which has an annual incidence of 2.9 /million population in USA 1Jeffery Toretsky et al (2008 They are very uncommon in African and Asian population .lt is commonly associated with reciprocal translocation between chromosome 11 and 12 t (11:12 or less frequently the t(21 ;22(q22;ql 2 translocation. It is highly aggressive tumor which is PAS- and CD99 (MIC2-positive relatively few variant translocations have been reported in primary Ewing’s sarcomas (ES. Case Report: We are hereby presenting a case of extra skeletal soft tissue Ewing’s sarcoma with unusual translocation of chromosome t (4, 22 (q35, q12.Patient presented to us in advanced stage with pulmonary metastasis and lower limb neurological deficit.Relatively few variant translocations have been reported in primary Ewing’s sarcomas (ES.To date, 13 variants of the EWS fusion gene have been described in literature. They are extremely rare, representing altogether < 1% of the cases’ 23we are reporting a case of a variant simple translocation of chromosome t (4; 22 (q35;1 2. In our exhaustive literature search we could find only one case of complex translocation which was identified in a dysmorphic 15-year-old girl, t (4:11; 22(q21; q24; q12 reported by Squire Jet al (1993. Conclusion: This type of translocation is extremely rare and has not been reported in the literature so far. Clinical presentation was initial indolent but later at the time patient presented to our institute he had developed pulmonary metastases and paraplegia due to involvement of spine. Our case report will provide new insight about rare translocation types in Ewing’s sarcoma and understand their clinical behavior of Ewing’s sarcoma with such type of translocation. Keywords: Ewings sarcoma, Translocation, Neuroectodermal tumours, Chromosome

  16. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy

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    Hinkes Bernward

    2012-05-01

    Full Text Available Abstract Background Microdeletions on chromosome 17q12 cause of diverse spectrum of disorders and have only recently been identified as a rare cause of Mayer-Rokitansky-Kuester-Hauser-Syndrome (MRKH, which is characterized by uterus aplasia ± partial/complete vaginal aplasia in females with a regular karyotype. For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder. Repeatedly she suffered from kidney transplant failure caused by consuming membranous nephropathy. Case presentation A 38-year-old female patient had been diagnosed with right kidney aplasia, left kidney dysplasia and significantly impaired renal function during infancy. Aged 16 she had to start hemodialysis. Three years later she received her first kidney transplant. Only then she was diagnosed with MRKH. The kidney transplant was lost due to consuming nephrotic syndrome caused by de novo membranous nephropathy, as was a second kidney transplant years later. In addition, a hyperelasticity syndrome affects the patient with congenital joint laxity, kyphoscoliosis, bilateral hip dysplasia, persistent hypermobility of both elbows, knees and hips. Her clinical picture resembles a combination of traits of a hypermobile and a vascular form of Ehlers-Danlos-Syndrome, but no mutations in the COL3A1 gene was underlying. Instead, array-based comparative genomic hybridisation (CGH detected a heterozygous 1.43 Mb deletion on chromosome 17q12 encompassing the two renal developmental genes HNF1β and LHX1. Conclusions Deletions of HNF1β have recently drawn significant attention in pediatric nephrology as an important cause of prenatally hyperechogenic kidneys, renal aplasia and renal hypodysplasia. In contrast, membranous nephropathy represents an often-unaccounted cause of nephrotic syndrome in the adult population. A causative connection between theses two conditions has never been postulated, but

  17. Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies.

    Science.gov (United States)

    Li, Ru; Fu, Fang; Zhang, Yong-Ling; Li, Dong-Zhi; Liao, Can

    2014-12-01

    The objective of this study was to characterize the genetic abnormalities in two fetuses with congenital anomalies in prenatal screening. The mother of Fetus 1 was 26 years old and had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound and magnetic resonance imaging (MRI) at 28 weeks of gestation showed mild ventriculomegaly, microcephaly, and agenesis of the corpus callosum. The mother of Fetus 2 was 25 years old and also had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 32 weeks of gestation showed the presence of hyperechogenic and enlarged kidneys with multicystic renal dysplasia bilaterally and a persistent left superior vena cava (PLSVC). Both pregnant women underwent cord blood samplings because of the abnormal imaging results. Karyotype analysis revealed normal results in the two fetuses. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the cord blood and parental blood samples. Ultimately, the pregnancies were both terminated. CMA detected a 1.56-Mb duplication at 17q12 in Fetus 1 and a 1.93-Mb deletion of 17q12 in Fetus 2. Both the duplicated and deleted regions included the HNF1B and LHX1 genes. Neither the duplication nor deletion was inherited from the parents. This study is the first to report the prenatal diagnosis of a 17q12 duplication syndrome. Our results further confirmed that genes in this region, including HNF1B and LHX1, are essential for normal brain and kidney development, and also indicated some genes that may be associated with the cardiovascular abnormality. Combined with imaging examination, the use of CMA will improve the diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital anomalies. Copyright © 2014. Published by Elsevier B.V.

  18. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13

    Energy Technology Data Exchange (ETDEWEB)

    Wooster, R.; Mangion, J.; Quirk, Y.; Collins, N.; Seal, S.; Ford, D.; Averill, D. (Institute of Cancer Research, Surrey (United Kingdom)); Neuhausen, S.L.; Nguyen, K.; Tran, T. (Univ. of Utah, Salt Lake City, UT (United States)) (and others)

    1994-09-30

    A small proportion of breast cancer, in particular those cases arising at a young age, is due to the inheritance of dominant susceptibility genes conferring a high risk of the disease. A genomic linkage search was performed with 15 high-risk breast cancer families that were unlinked to the BRCA1 locus on chromosome 17q21. This analysis localized a second breast cancer susceptibility locus, BRCA2, to a 6-centimorgan interval on chromosome 13q12-13. Preliminary, evidence suggests that BRCA2 confers a high risk of breast cancer but, unlike BRCA1, does not confer a substantially elevated risk of ovarian cancer.

  19. (q24: q12) translocation is common in Ewing's sarcoma/peripheral ...

    Indian Academy of Sciences (India)

    The Ewing's sarcoma family can present diagnostic difficulties. In the past the basis of diagnosis has been a exclusion. Identification of a specific translocation especially t(11; 22) (EWS-FLI 1 fusion gene), which is seen in nearly 85% of Ewing's sarcoma cases can help in precise diagnosis. We have carried out a study on ...

  20. The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11. 2-q12

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    Ramsay, M.; Colman, M.A.; Stevens, G.; Zwane, E.; Kromberg, J.; Jenkins, T. (South African Institute for Medical Research, Johannesburg (South Africa)); Garral, M.

    1992-10-01

    Tyrosinase-positive oculocutaneous albinism (ty-pos OCA), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common type of albinism occurring worldwide. In southern African Bantu-speaking negroids it has an overall prevalence of about 1/3,900. Since the basic biochemical defect is unknown, a linkage study with candidate loci, candidate chromosomal regions, and random loci was undertaken. The ty-pos OCA locus was found to be linked to two arbitrary loci, D15S10 and D15S13, in the Prader-Willi/Angelman chromosomal region on chromosome 15q11.2-q12. The pink-eyed dilute locus, p, on mouse chromosome 7, maps close to a region of homology on human chromosome 15q, and we postulate that the ty-pos OCA and p loci are homologous. 43 refs., 2 figs., 1 tab.

  1. The 19q12 bladder cancer GWAS signal: association with cyclin E function and aggressive disease

    Science.gov (United States)

    Fu, Yi-Ping; Kohaar, Indu; Moore, Lee E.; Lenz, Petra; Figueroa, Jonine D.; Tang, Wei; Porter-Gill, Patricia; Chatterjee, Nilanjan; Scott-Johnson, Alexandra; Garcia-Closas, Montserrat; Muchmore, Brian; Baris, Dalsu; Paquin, Ashley; Ylaya, Kris; Schwenn, Molly; Apolo, Andrea B.; Karagas, Margaret R.; Tarway, McAnthony; Johnson, Alison; Mumy, Adam; Schned, Alan; Guedez, Liliana; Jones, Michael A.; Kida, Masatoshi; Monawar Hosain, GM; Malats, Nuria; Kogevinas, Manolis; Tardon, Adonina; Serra, Consol; Carrato, Alfredo; Garcia-Closas, Reina; Lloreta, Josep; Wu, Xifeng; Purdue, Mark; Andriole, Gerald L.; Grubb, Robert L.; Black, Amanda; Landi, Maria T.; Caporaso, Neil E.; Vineis, Paolo; Siddiq, Afshan; Bueno-de-Mesquita, H. Bas; Trichopoulos, Dimitrios; Ljungberg, Börje; Severi, Gianluca; Weiderpass, Elisabete; Krogh, Vittorio; Dorronsoro, Miren; Travis, Ruth C.; Tjønneland, Anne; Brennan, Paul; Chang-Claude, Jenny; Riboli, Elio; Prescott, Jennifer; Chen, Constance; De Vivo, Immaculata; Govannucci, Edward; Hunter, David; Kraft, Peter; Lindstrom, Sara; Gapstur, Susan M.; Jacobs, Eric J.; Diver, W. Ryan; Albanes, Demetrius; Weinstein, Stephanie J.; Virtamo, Jarmo; Kooperberg, Charles; Hohensee, Chancellor; Rodabough, Rebecca J.; Cortessis, Victoria K.; Conti, David V.; Gago-Dominguez, Manuela; Stern, Mariana C.; Pike, Malcolm C.; Van Den Berg, David; Yuan, Jian-Min; Haiman, Christopher A.; Cussenot, Olivier; Cancel-Tassin, Geraldine; Roupret, Morgan; Comperat, Eva; Porru, Stefano; Carta, Angela; Pavanello, Sofia; Arici, Cecilia; Mastrangelo, Giuseppe; Grossman, H. Barton; Wang, Zhaoming; Deng, Xiang; Chung, Charles C.; Hutchinson, Amy; Burdette, Laurie; Wheeler, William; Fraumeni, Joseph; Chanock, Stephen J.; Hewitt, Stephen M.; Silverman, Debra T.; Rothman, Nathaniel; Prokunina-Olsson, Ludmila

    2014-01-01

    A genome-wide association study (GWAS) of bladder cancer identified a genetic marker rs8102137 within the 19q12 region as a novel susceptibility variant. This marker is located upstream of the CCNE1 gene, which encodes cyclin E, a cell cycle protein. We performed genetic fine mapping analysis of the CCNE1 region using data from two bladder cancer GWAS (5,942 cases and 10,857 controls). We found that the original GWAS marker rs8102137 represents a group of 47 linked SNPs (with r2≥0.7) associated with increased bladder cancer risk. From this group we selected a functional promoter variant rs7257330, which showed strong allele-specific binding of nuclear proteins in several cell lines. In both GWAS, rs7257330 was associated only with aggressive bladder cancer, with a combined per-allele odds ratio (OR) =1.18 (95%CI=1.09-1.27, p=4.67×10−5 vs. OR =1.01 (95%CI=0.93-1.10, p=0.79) for non-aggressive disease, with p=0.0015 for case-only analysis. Cyclin E protein expression analyzed in 265 bladder tumors was increased in aggressive tumors (p=0.013) and, independently, with each rs7257330-A risk allele (ptrend=0.024). Over-expression of recombinant cyclin E in cell lines caused significant acceleration of cell cycle. In conclusion, we defined the 19q12 signal as the first GWAS signal specific for aggressive bladder cancer. Molecular mechanisms of this genetic association may be related to cyclin E over-expression and alteration of cell cycle in carriers of CCNE1 risk variants. In combination with established bladder cancer risk factors and other somatic and germline genetic markers, the CCNE1 variants could be useful for inclusion into bladder cancer risk prediction models. PMID:25320178

  2. Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

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    Smigiel, Robert; Marcelis, Carlo; Patkowski, Dariusz; de Leeuw, Nicole; Bednarczyk, Damian; Barg, Ewa; Mascianica, Katarzyna; Maria Sasiadek, M; Brunner, Han

    2014-01-01

    Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no single specific chromosomal and monogenic defect has been confirmed as a main etiological factor. We described a patient with a 1.4 Mb duplication at 17q12 detected by SNP-array study and validated using qRT-PCR, who presented with an oesophageal atresia accompanied with tracheoesophageal fistula and anal atresia as well as other symptoms resembling VATER association (thumb hypoplasia, sacral bone defect, cryptorchidism). Genomic rearrangements of chromosome 17q12 are associated with a variety of clinical phenotypes. Only few cases with OA patients with the duplication in 17q12 have been reported. The 17q12 region comprised 15 genes. We propose to consider a role for selected genes such as AATF (cell proliferation and apoptosis) and TADA2L (Wnt pathway) at the 17q12 region as well as developmental and transcriptional pathways represented by these genes, in the development of OA/TOF and VATER association. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  3. 17q12 Deletion and Duplication Syndrome in Denmark-A Clinical Cohort of 38 Patients and Review of the Literature

    DEFF Research Database (Denmark)

    Rasmussen, Maria; Vestergaard, Else Marie; Graakjaer, Jesper

    2016-01-01

    , autism, schizophrenia, structural brain abnormalities, facial dysmorphism, and joint laxity are features seen in both the 17q12 deletion syndrome and the reciprocal 17q12 duplication syndrome; and we extend the list of features seen in both patient categories to include strabismus, esophageal defects......, and duodenal atresia. Delayed language development, learning disability, kidney involvement, and eye dysmorphism and strabismus were the most consistently shared features among patients with 17q12 deletion. Patients with 17q12 duplications were characterized by an extremely wide phenotypic spectrum, including...

  4. ‘Cut in two’, Part 2: Reconsidering the redaction of Q 12:42−46

    Directory of Open Access Journals (Sweden)

    Llewellyn Howes

    2015-06-01

    Full Text Available In his influential 1987 monograph, Kloppenborg identified three layers in the Sayings Gospel Q: the ‘formative stratum’ (or Q¹, the ‘main redaction’ (or Q², and the ‘final recension’ (or Q³. He ascribed the cluster of sayings in Q 12:39–59 to the main redaction. Within this cluster appears the parable of the loyal and wise slave (Q 12:42–46. In my view, some portions of this parable actually originate with the formative stratum. The aim of the current article is to reconsider the redactional make-up of this parable by appealing to Kloppenborg’s own criteria for distinguishing between Q1 and Q2, including those of ‘characteristic forms’, ‘characteristic motifs’ and ‘implied audience’.

  5. Mouse to human comparative genetics reveals a novel immunoglobulin E-controlling locus on Hsa8q12

    Czech Academy of Sciences Publication Activity Database

    Gusareva, Elena; Havelková, Helena; Blažková, Hana; Kosařová, Marcela; Kučera, P.; Král, V.; Salyakina, D.; Mulller-Myhsok, b.; Lipoldová, Marie

    2009-01-01

    Roč. 61, č. 1 (2009), s. 15-25 ISSN 0093-7711 R&D Projects: GA ČR GA310/06/1745; GA MŠk(CZ) LC06009 Institutional research plan: CEZ:AV0Z50520514 Keywords : atopy * specific IgE * genetic loci * mouse-human homology * Czech population * 8q12 Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.988, year: 2009

  6. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH syndrome: two case reports

    Directory of Open Access Journals (Sweden)

    Novelli Antonio

    2009-11-01

    Full Text Available Abstract Background Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of Müllerian ducts, either isolated or associated with other congenital malformations, including renal, skeletal, hearing and heart defects. This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. Methods and Results we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at chromosome 17q12. One patient was affected by complete absence of uterus and vagina, with bilaterally normal ovaries, while the other displayed agenesis of the upper part of vagina, right unicornuate uterus, non cavitating rudimentary left horn and bilaterally multicystic kidneys. The deletion encompassed two candidate genes, TCF2 and LHX1. Mutational screening of these genes in a selected group of 20 MRKH females without 17q12 deletion was negative. Conclusion Deletion 17q12 is a rare albeit recurrent anomaly mediated by segmental duplications, previously reported in subjects with developmental kidney abnormalities and diabetes. The present two patients expand the clinical spectrum associated with this imbalance and suggest that this region is a candidate locus for a subset of MRKH syndrome individuals, with or without renal defects.

  7. t(3;11)(q12;p15)/NUP98-LOC348801 fusion transcript in acute myeloid leukemia.

    Science.gov (United States)

    Gorello, Paolo; Brandimarte, Lucia; La Starza, Roberta; Pierini, Valentina; Bury, Loredana; Rosati, Roberto; Martelli, Massimo F; Vandenberghe, Peter; Wlodarska, Iwona; Mecucci, Cristina

    2008-09-01

    In a case of acute myeloid leukemia we report molecular cytogenetic findings of a t(3;11)(q12;p15), characterized as a new NUP98 translocation rearranging with LOC348801 at chromosome 3. NUP98 involvement was detected by fluorescence in situ hybridization. 3'-RACE-PCR showed nucleotide 1718 (exon 13) of NUP98 was fused in-frame with nucleotide 1248 (exon 2) of LOC348801. RT-PCR and cloning experiments detected two in-frame spliced NUP98-LOC348801 transcripts and the reciprocal LOC348801-NUP98. A highly specific double-color double-fusion FISH assay reliably detects NUP98-LOC348801.

  8. Assignment of the human genes for Desmocollin 3 (DSC3) and Desmocollin 4 (DSC4) to chromosome 18q12

    Energy Technology Data Exchange (ETDEWEB)

    Amagai, Masayuki; Nishikawa, Takeji; Wang, Yimin [Keio Univ. School of Medicine, Shinjuku-ku, Tokyo (Japan)] [and others

    1995-01-01

    Desmosomes are adhesive intercellular junctions that contain two transmembrane components, desmoglein and desmocollin. cDNA cloning has revealed that both components are members of the cadherin supergene family and consist of multiple isotypes. Desmogleins (Dsg) have three isotypes, Dsg1, Dsg2, and Dsg3. Dsg1 and Dsg3 are also the target antigens of autoimmune blistering diseases, pemphigus foliaceus and pemphigus vulgaris, respectively. Previously, we have demonstrated that the human genes for Dsg1 and Dsg3 are located on chromosome 18q12 by fluorescence in situ hybridization (FISH). Furthermore, both genes were localized on a 320-kb genomic fragment separated by pulsed-field gel electrophoresis. For desmocollins (Dsc for protein, DSC for gene), human cDNAs for Dsc1 and Dsc3 have been isolated from three currently known isotypes. In this study, we report that human genes for Dsc3 and a novel desmocollin, Dsc4, are located on chromosome 18q12 as determined by FISH, suggesting a cluster for desmosomal cadherins on chromosome 18. 14 refs., 1 fig.

  9. T11TS repress gliomagenic apoptosis of bone marrow hematopoietic stem cells.

    Science.gov (United States)

    Mondal, Somnath; Hazra, Iman; Datta, Ankur; Sk Md, Omar Faruk; Moitra, Saibal; Tripathi, Santanu Kumar; Chaudhuri, Swapna

    2018-01-01

    Combating gliomagenic global immunosuppression is one of the emerging key for improving prognosis in malignant glioma. Apoptosis plays a pivotal role within the adult hematopoietic system particularly in regulating the cells of immune system. Gliomagenic regulation of apoptotic mediators within bone marrow milieu has not been elucidated. We previously demonstrated that administration of membrane glycopeptides T11 target structure (T11TS) not only rejuvenate bone marrow hematopoietic stem cells (BMHSCs) from glioma mediated hibernation by inhibiting gliomagenic overexpression of Ang-1/Tie-2 but also stimulate glioma mediated diminution of expression CD34, c-kit, and Sca-1 markers. In the present study, we investigated the impact of glioma on apoptotic signaling cascades of BMHSCs and consequences following T11TS therapy. Bone marrow smear and Annexin V staining confirm gliomagenic acceleration of apoptotic fate of BMHSCs whereas T11TS treatment in glioma-bearing rats disrupted apoptosis of BMHSCs. Flowcytometry, immunoblotting, and immunofluorescence imagining results revealed multi potent T11TS not only significantly downregulates gliomagenic overexpression of Fas, Fas L, Bid, and caspase-8, the pro-apoptotic extrinsic mediators but also strongly inhibits cytosolic release of cytochrome-c, Apf-1, and Bax to deactivate gliomagenic caspase-9, 3 the key intrinsic apoptotic mediators followed by up modulation of anti-apoptotic Bcl-2 in glioma associated HSCs. T11TS is also able to diminish the perforin-granzyme B mediated apoptotic verdict of BMHSCs during gliomagenesis. The anti-apoptotic action of T11TS on glioma associated BMHSCs provide a crucial insight into how T11TS exerts its immunomodulatory action against glioma mediated immune devastation. © 2017 Wiley Periodicals, Inc.

  10. Extraction and retention of technetium-99m Q12, technetium-99m sestamibi, and thallium-201 in isolated rat heart during coronary acidemia.

    Science.gov (United States)

    McGoron, A J; Gerson, M C; Biniakiewicz, D S; Roszell, N J; Washburn, L C; Millard, R W

    1997-12-01

    Technetium-99m Q12 and 99mTc-sestamibi are cationic lipophilic myocardial perfusion imaging tracers. Because myocardium in areas of ischemia becomes acidotic, experiments were designed to differentiate the effects of myocardial perfusate pH on radiotracer extraction and retention independent of substrate availability. We hypothesized that 99mTc-Q12 and 99mTc-sestamibi single-pass uptake and retention would be unaffected by a modest reduction in coronary perfusate pH. Isolated rat hearts were perfused at constant flow with Krebs-Henseleit buffer enriched with bovine red blood cells (20%). The indicator dilution method was used to measure the maximum extraction (Emax) and net extraction (Enet) of thallium-201 and 99mTc-Q12 (n = 8) or 201Tl and 99mTc sestamibi (n = 7) during baseline perfusion (pH = 7.4), during acidemic (pH = 6.7) perfusion, and during a restitution period with normal perfusate (pH = 7.4). 201Tl Emax (0.71+/-0.03) was greater than either 99mTc-Q12 or 99mTc-sestamibi Emax (0.27+/-0.02 and 0.26+/-0.01 respectively, P<0.0001). Acidemia significantly reduced 201Tl Emax (0.65+/-0.03, P<0.02) but not 99mTc-Q12 or 99mTc-sestamibi Emax (0.25+/-0.02 and 0.24+/-0.02 respectively). During control perfusion Enet of 201Tl was greater than that of 99mTc-Q12 at 3 and 5 min and greater than that of 99mTc-sestamibi at 3 min. 99mTc-Q12 Enet was less than 99mTc-sestamibi Enet at 3, 5, and 10 min. Acidemia decreased 201Tl and 99mTc-sestamibi Enet at 3, 5, and 10 min but had no effect on 99mTc-Q12 Enet. It is concluded that Emax of 99mTc-Q12 is less than that of 201Tl but is not different from that of 99mTc-sestamibi. Enet of 99mTc-Q12 is less than that of 99mTc-sestamibi.

  11. Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.

    Science.gov (United States)

    Jezela-Stanek, Aleksandra; Dobrzańska, Anna; Maksym-Gasiorek, Dorota; Trzeciakowski, Wojciech; Gutkowska, Anna; Olczak-Kowalczyk, Dorota; Gajdulewicz, Maria; Spodar, Krystyna; Czech-Kowalska, Justyna; Krajewska-Walasek, Małgorzata

    2009-01-01

    We describe the clinical characteristics of two patients with cat-eye syndrome (CES, MIM #115470) resulting from a supernumerary marker chromosome that includes 22pter-q12.3. They both presented a constellation of features typical of CES, including coloboma, auricular malformations, heart and renal anomalies, as well as hepatic dysfunction, which led to severe effects. In one case Pierre Robin sequence was diagnosed which has not been described earlier in this trisomy. Although CES is a well known, but infrequently diagnosed disorder, we draw attention both to its clinical overlaps with other disorders and, in view of the clinical variability being identified within the 22q11 region, to the importance of careful molecular examination of proximal 22q in patients with suggestive clinical signs.

  12. 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

    Science.gov (United States)

    Allou, Lila; Lambert, Laetitia; Amsallem, Daniel; Bieth, Eric; Edery, Patrick; Destrée, Anne; Rivier, François; Amor, David; Thompson, Elizabeth; Nicholl, Julian; Harbord, Michael; Nemos, Christophe; Saunier, Aline; Moustaïne, Aissa; Vigouroux, Adeline; Jonveaux, Philippe; Philippe, Christophe

    2012-01-01

    The Forkhead box G1 (FOXG1) gene has been implicated in severe Rett-like phenotypes. It encodes the Forkhead box protein G1, a winged-helix transcriptional repressor critical for forebrain development. Recently, the core FOXG1 syndrome was defined as postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and dysgenesis of the corpus callosum. We present seven additional patients with a severe Rett-like neurodevelopment disorder associated with de novo FOXG1 point mutations (two cases) or 14q12 deletions (five cases). We expand the mutational spectrum in patients with FOXG1-related encephalopathies and precise the core FOXG1 syndrome phenotype. Dysgenesis of the corpus callosum and dyskinesia are not always present in FOXG1-mutated patients. We believe that the FOXG1 gene should be considered in severely mentally retarded patients (no speech-language) with severe acquired microcephaly (−4 to−6 SD) and few clinical features suggestive of Rett syndrome. Interestingly enough, three 14q12 deletions that do not include the FOXG1 gene are associated with phenotypes very reminiscent to that of FOXG1-mutation-positive patients. We physically mapped a putative long-range FOXG1-regulatory element in a 0.43 Mb DNA segment encompassing the PRKD1 locus. In fibroblast cells, a cis-acting regulatory sequence located more than 0.6 Mb away from FOXG1 acts as a silencer at the transcriptional level. These data are important for clinicians and for molecular biologists involved in the management of patients with severe encephalopathies compatible with a FOXG1-related phenotype. PMID:22739344

  13. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

    Science.gov (United States)

    Ellaway, Carolyn J; Ho, Gladys; Bettella, Elisa; Knapman, Alisa; Collins, Felicity; Hackett, Anna; McKenzie, Fiona; Darmanian, Artur; Peters, Gregory B; Fagan, Kerry; Christodoulou, John

    2013-01-01

    Rett syndrome is a clinically defined neurodevelopmental disorder almost exclusively affecting females. Usually sporadic, Rett syndrome is caused by mutations in the X-linked MECP2 gene in ∼90–95% of classic cases and 40–60% of individuals with atypical Rett syndrome. Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant. We report the clinical features and array CGH findings of three atypical Rett syndrome patients who had severe intellectual impairment, early-onset developmental delay, postnatal microcephaly and hypotonia. In addition, the females had a seizure disorder, agenesis of the corpus callosum and subtle dysmorphism. All three were found to have an interstitial deletion of 14q12. The deleted region in common included the PRKD1 gene but not the FOXG1 gene. Gene expression analysis suggested a decrease in FOXG1 levels in two of the patients. Screening of 32 atypical Rett syndrome patients did not identify any pathogenic mutations in the PRKD1 gene, although a previously reported frameshift mutation affecting FOXG1 (c.256dupC, p.Gln86ProfsX35) was identified in a patient with the congenital Rett syndrome variant. There is phenotypic overlap between congenital Rett syndrome variants with FOXG1 mutations and the clinical presentation of our three patients with this 14q12 microdeletion, not encompassing the FOXG1 gene. We propose that the primary defect in these patients is misregulation of the FOXG1 gene rather than a primary abnormality of PRKD1. PMID:22968132

  14. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

    DEFF Research Database (Denmark)

    Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine

    2015-01-01

    Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities......), but a 1.6Mb deletion at chromosome region 11q12.3-11q13.1 was detected by chromosome microarray. The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum...

  15. Translocation (6;15(q12;q15: A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome

    Directory of Open Access Journals (Sweden)

    Saba F. Ali

    2015-01-01

    Full Text Available Most myelodysplastic syndromes (MDS present with loss or gain of chromosomal material and less commonly show translocations as a sole abnormality. In addition, certain translocations are more commonly seen in MDS than others, but to our knowledge, the presence of t(6;15 has not been reported in MDS, specifically therapy-related MDS (t-MDS cases. Patients with t-MDS, a group of heterogeneous stem cell related disorders resulting as a latent complication of cytotoxic and/or radiation therapy, generally tend to have a poorer prognosis than de novo MDS. We present a unique case of a patient who initially presented with acute myeloid leukemia (AML with a normal karyotype and FLT3-ITD and NPM1 mutations. The patient was successfully treated with chemotherapy and an autologous bone marrow transplant but subsequently developed a new FLT3-ITD negative t-MDS with a unique translocation, t(6;15(q12;q15, three years after transplant. To our knowledge, this unique sole translocation has never been reported in MDS or t-MDS and given her successful response to treatment and remission, presence of this translocation may have some prognostic value.

  16. Review of renal carcinoma with t(6;11)(p21;q12) with focus on clinical and pathobiological aspects.

    Science.gov (United States)

    Kuroda, Naoto; Tanaka, Azusa; Sasaki, Naomi; Ishihara, Akira; Matsuura, Keiko; Moriyama, Masatsugu; Nagashima, Yoji; Inoue, Keiji; Petersson, Fredrik; Martignoni, Guido; Michal, Michal; Hes, Ondrej

    2013-06-01

    Recently, a new category of MiTF/TFE family translocation carcinomas of the kidney has been proposed. This category includes Xp11.2 renal cell carcinoma (RCC) and the t(6;11) RCC. These tumors share clinical, morphological, immunohistochemical and molecular genetic features. In this article, we review t(6;11) RCC. This tumor predominantly affects children and young adults. Macroscopically, the tumor generally forms a well circumscribed mass. Satellite nodules may be observed. Histologically, the tumor comprises large cells and small cells surrounded by basement membrane material. Immunohistochemically, tumor cells show nuclear immunolabeling for TFEB and usually express Cathepsin-K in the cytoplasm. Karyotyping detects the rearrangement between chromosome 6p21 and chromosome 11q12. Alpha-TFEB fusion can be detected by reverse transcriptase polymerase chain reaction (RT-PCR) or fluorescence in situ hybridization (FISH). Most cases affecting children and young adults seem to be indolent, but some adult cases have presented with metastasis or caused death. As previously reported cases remain limited to date, further examination in a large scale study will be needed in order to elucidate clinical behavior and molecular characteristics.

  17. High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus

    Directory of Open Access Journals (Sweden)

    Bonavita Gina

    2002-08-01

    Full Text Available Abstract Background The Blau syndrome (MIM 186580, an autosomal dominant granulomatous disease, was previously mapped to chromosome 16p12-q21. However, inconsistent physical maps of the region and consequently an unknown order of microsatellite markers, hampered us from further refining the genetic locus for the Blau syndrome. To address this problem, we constructed our own high-resolution physical map for the Blau susceptibility region. Results We generated a high-resolution physical map that provides more than 90% coverage of a refined Blau susceptibility region. The map consists of four contigs of sequence tagged site-based bacterial artificial chromosomes with a total of 124 bacterial artificial chromosomes, and spans approximately 7.5 Mbp; however, three gaps still exist in this map with sizes of 425, 530 and 375 kbp, respectively, estimated from radiation hybrid mapping. Conclusions Our high-resolution map will assist genetic studies of loci in the interval from D16S3080, near D16S409, and D16S408 (16q12.1 to 16q13.

  18. The recurrent translocation t(5;8)(p13;q12) in pleomorphic adenomas results in upregulation of PLAG1 gene expression under control of the LIFR promoter.

    Science.gov (United States)

    Voz, M L; Aström, A K; Kas, K; Mark, J; Stenman, G; Van de Ven, W J

    1998-03-01

    We have previously shown that the PLAG1 gene on chromosome 8q12 is consistently rearranged in pleomorphic adenomas of the salivary glands with t(3;8)(p21;q12) translocations. The t(3;8) results in promoter swapping between the PLAG1 gene, which encodes a novel zinc finger protein, and the constitutively expressed gene for beta-catenin (CTNNB1), a protein with roles in cell-cell adhesion and the WG/WNT signalling pathway. In order to assess the importance of other translocation partner genes of PLAG1, and their possible relationship to CTNNB1, we have characterized a second recurrent translocation, i.e. the t(5;8)(p13;q12). This translocation leads to ectopic expression of a chimeric transcript consisting of sequences from the ubiquitously expressed gene for the leukemia inhibitory factor receptor (LIFR) and PLAG1. As for the t(3;8), the fusions occurred in the 5'-noncoding regions of both genes, exchanging regulatory control elements while preserving the coding sequences. The results of the current as well as previous studies indicate that ectopic expression of PLAG1 under the control of promoters of distinct translocation partner genes is a general pathogenetic mechanism for pleomorphic adenomas with 8q12 aberrations.

  19. NEUROD2 and NEUROD3 genes map to human chromosomes 17q12 and 5q23-q31 and mouse chromosomes 11 and 13, respectively

    Energy Technology Data Exchange (ETDEWEB)

    Tamimi, R.M.; Montgomery-Dyer, K.; Tapscott, S.J. [Fred Hutchinson Cancer Research Center, Seattle, WA (United States)] [and others

    1997-03-01

    NEUROD2 and NEUROD3 are transcription factors involved in neurogenesis that are related to the basic helix-loop-helix protein NEUROD. NEUROD2 maps to human chromosome 17q12 and mouse chromosome 11. NEUROD3 maps to human chromosome 5q23-q31 and mouse chromosome 13. 16 refs., 2 figs.

  20. 31 CFR 30.12 - Q-12: What actions are necessary for a TARP recipient to comply with section 111(d) of EESA (the...

    Science.gov (United States)

    2010-07-01

    ... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.12 Q-12: What actions are necessary for a TARP... primary regulatory agency, and post the text of this policy on its Internet Web site, if the TARP... primary regulatory agency and post the amended policy on its Internet Web site, if the TARP recipient...

  1. Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene

    NARCIS (Netherlands)

    Windelinckx, An; De Mars, Gunther; Huygens, Wim; Peeters, Maarten W.; Vincent, Barbara; Wijmenga, Cisca; Lambrechts, Diether; Delecluse, Christophe; Roth, Stephen M.; Metter, E. Jeffrey; Ferrucci, Luigi; Aerssens, Jeroen; Vlietinck, Robert; Beunen, Gaston P.; Thomis, Martine A.

    Muscle strength is important in functional activities of daily living and the prevention of common pathologies. We describe the two-staged fine mapping of a previously identified linkage peak for knee strength on chr12q12-14. First, 209 tagSNPs in/around 74 prioritized genes were genotyped in 500

  2. Fear of progression in patients 6 months after cancer rehabilitation-a- validation study of the fear of progression questionnaire FoP-Q-12.

    Science.gov (United States)

    Hinz, Andreas; Mehnert, Anja; Ernst, Jochen; Herschbach, Peter; Schulte, Thomas

    2015-06-01

    Many cancer patients experience fear of progression (FoP). The purpose of this study was to test psychometric properties of the questionnaire FoP-Q-12, to examine age and gender differences of FoP, and to explore prognostic factors of FoP. A sample of 2059 patients with a cancer diagnosis who had participated in a cancer rehabilitation program was examined 6 months after discharge from the rehabilitation clinic. Participants filled in the Fear of Progression questionnaire FoP-Q-12, the Hospital Anxiety and Depression Scale (anxiety subscale), and the Generalized Anxiety Disorder Questionnaire GAD-2 and answered a list of questions concerning their cancer disease. Reliability of the FoP-Q-12 (Cronbach's alpha = 0.90) was good. While exploratory factorial analysis supported the one-dimensional structure of the FoP-Q-12, confirmatory factorial analysis only partially supported the one-dimensional model. A proportion of 16.7 % of the sample scored above the FoP-Q-12 cutoff score. Females showed higher FoP scores than males (effect size d = 0.52), and older patients had slightly lower levels of FoP than younger patients (d = 0.17). There were substantial and significant correlations between FoP-Q-12 and Hospital Anxiety and Depression Scale (HADS) anxiety (r = 0.71) as well as GAD-2 anxiety (r = 0.57). The highest FoP mean scores were found for the following cancer locations: ovary (M = 29.5), thyroid gland (M = 28.8), and breast (M = 27.9), while the lowest scores were found for Hodgkin lymphoma (M = 23.6), testis (M = 21.8), and prostate (M = 21.7). The FoP-Q-12 proved to be a valid instrument for measuring fear of progression in cancer patients.

  3. HELICOBACTER PYLORI AND t(11;18(q21;q21 TRANSLOCATION IN GASTRIC MALT LYMPHOMA

    Directory of Open Access Journals (Sweden)

    Karine Sampaio LIMA

    2014-04-01

    Full Text Available Context Gastric mucosa-associated lymphoid tissue (MALT lymphoma is clearly associated with Helicobacter pylori gastritis and can be cured with anti- H pylori therapy alone. The presence of t(11;18(q21;q21 translocation is thought to predict a lower response rate to anti- H pylori treatment. Objectives To study the presence of t(11;18(q21;q21 genetic translocation and its clinical impact in low-grade gastric MALT lymphoma Brazilian patients. Methods A consecutive series of eight patients with gastric MALT lymphoma were submitted to gastroscopy, endoscopic ultrasound, histopathological examination, H pylori search and RT-PCR-based methodology. All patients received anti-H pylori treatment. Eradicated patients were followed-up every 3-6 months for 2 years. Results Eight patients were studied. All patients had tumor involvement restricted to the mucosa or submucosa and seven patients had low-grade gastric MALT lymphoma. All infected patients achieved H pylori eradication. Histological tumor regression was observed in 5/7 (71% of the low-grade gastric MALT lymphoma patients. The presence of t(11;18(q21;q21 translocation was found in 4 (57% of these patients; among them only two had histological tumor regression following H pylori eradication. Conclusions RT-PCR is a feasible and efficient method to detect t(11;18(q21;q21 translocation, being carried out in routine molecular biology laboratories. The early detection of such translocation can be very helpful for better targeting the therapy to be applied to gastric MALT lymphoma patients.

  4. Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis.

    Science.gov (United States)

    Mikelsaar, Ruth; Nelis, Mari; Kurg, Ants; Zilina, Olga; Korrovits, Paul; Rätsep, Ranno; Väli, Maie

    2012-02-01

    We describe the first case of two chromosomal abnormalities, balanced reciprocal translocation t(5;13)(q33;q12.1) and a microduplication in the region 9q31.1, in a man suffering from infertility and pollinosis. In the region 13q12.1 is located the TUBA3C (tubulin, alpha 3c) gene, which plays an important dynamic role in the motility of flagella. This case might support the opinion that haploinsufficiency of the TUBA3C gene could be the cause of sperm immotility and abnormal sperm morphology, resulting in infertility in the patient. Single-nucleotide polymorphism (SNP) array analysis revealed a novel 9q31.1 microduplication inherited from both parents, which contributes to the genomic instability.

  5. A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12

    Energy Technology Data Exchange (ETDEWEB)

    Spritz, R.A.; Strunk, K.M.; Lee, S.T. [Univ. of Wisconsin, Madison, WI (United States)] [and others

    1994-07-15

    The authors have mapped five genes encoding protein tyrosine kinases (PTKs) to the pericentromeric region of human chromosome 4. PTK4 and TYRO4, which encode nonreceptor intracellular PTKs, are located at 4p12 and 4q13, respectively. The other three genes, PDGFRA, KIT, and KDR, encode type III transmembrane receptor PTKs for known ligands. The authors have developed a contig of 29 yeast artificial chromosomes (YACs) spanning approximately 2 Mb of DNA at 4q12 that includes PDGFRA, KIT, and KDR, and have used this YAC contig to map 12 different sequence-tagged sites in this region. PDGFRA, KIT, and KDR thus constitute a cluster of genes at 4q12 encoding closely related type III receptor PTKs. Mutations of the human KIT gene result in piebaldism, an autosomal dominant disorder of melanocyte development. 42 refs., 3 figs., 2 tabs.

  6. Acanthamoeba T4, T5 and T11 isolated from mineral water bottles in southern Brazil.

    Science.gov (United States)

    Maschio, Vinicius José; Chies, Fernanda; Carlesso, Ana Maris; Carvalho, Amanda; Rosa, Sayonara Peixoto; Van Der Sand, Sueli Teresinha; Rott, Marilise Brittes

    2015-01-01

    Acanthamoeba is a protist potential pathogen, capable of causing a blinding keratitis in contact lens wearers and disseminated infection, leading to granulomatous amebic encephalitis in immunocompromised individuals. This amoeba is a ubiquitous organism that has been isolated from various domestic water systems, such as cooling towers and hospital water networks. The objective of this work was to investigate the presence of Acanthamoeba in mineral water bottles marketed in Porto Alegre, southern Brazil. Positive samples were further classified at the genotype level after sequencing the ASA.S1 region of 18S rDNA gene. Six of the eight isolates belonged to T5 genotype, one to T4 genotype, and one was T11. Several genotypes have been reported worldwide as causative of pathologies in humans, including genotypes T4, T5 and T11. Overall, the widespread distribution of potentially pathogenic Acanthamoeba strains in the studied source demands more awareness within the public and health professionals, because this pathogen is emerging as a risk for human health worldwide.

  7. The transiting exoplanet CoRoT-11b and its peculiar tidal evolution

    Directory of Open Access Journals (Sweden)

    Damiani C.

    2011-02-01

    Full Text Available CoRoT-11b is a fairly massive hot-Jupiter (Mp = 2.33 ± 0.34 MJup in a 3 days orbit around a F6 V star with an age of 2 ± 1 Gyr. The relatively high projected rotational velocity of the star (v sin i⋆ = 40 ± 5 km/s places CoRoT-11 among the most rapidly rotating planet hosting stars discovered so far. Assuming that the star is seen equator-on, the v sin i⋆ and the star radius (R∗ = 1.37±0.03 R⊙ translate into a stellar rotation period of 1.73±0.26 days. This peculiar planet/star configuration offers an unique opportunity to study the tidal evolution of the system. Owing to the strong tidal interaction, the planet would have moved outwards, from a starting semi-major axis corresponding to an orbital period almost synchronized with the stellar rotation. We found that the present value of the tidal quality factor Q′s could be measured by a timing of the mid-epoch of the transits to be observed with an accuracy of about 0.5 − 1 seconds over a time baseline of about 25 years.

  8. Time-of-flight measurements of the plasma density in the T-11M tokamak

    International Nuclear Information System (INIS)

    Petrov, V. G.; Petrov, A. A.; Malyshev, A. Yu.; Markov, V. K.; Babarykin, A. V.

    2006-01-01

    The average plasma density in the T-11M tokamak is determined by means of an O-mode time-of-flight refractometer measuring the propagation time τ of microwave pulses through the plasma. Since the front duration τ fr of these pulses is shorter than 2 ns, filtering the measured signal cannot reduce the signal-to-noise ratio below a certain level. This circumstance impedes the use of this diagnostics in larger devices, where the signals may be substantially attenuated because of the larger chamber size and larger waveguide losses. There are several ways to overcome these difficulties: to raise the microwave power, to increase the sensitivity of the receivers, etc. In this paper, a technique is described that is based on the differential method for determining the propagation time of a microwave signal through the plasma. In this method, the plasma is probed by two continuous microwaves with close frequencies and the phase difference between them Δφ 12 is measured. As long as the condition Δφ 12 < 2π is satisfied, the measurements are unambiguous, because there are no phase jumps by a value multiple of 2π, as is usually the case in conventional interferometers at an increased level of MHD activity, in regimes with a rapid density growth, etc. This method allows the signal to be filtered, thereby ensuring an appreciable improvement in the signal-to-noise ratio in comparison with the pulsed methods. The first measurements of the average density along the +3-cm chord were performed with the help of this new differential time-of-flight refractometer in the T-11M tokamak. The refractometry data agree well with the interferometric data and are used to recover the plasma-density profile

  9. An Analysis of the U.S. Army’s T-11 Advanced Tactical Parachute System and Potential Path Forward

    Science.gov (United States)

    2016-12-01

    Automatic Activation Device AAO Army Authorization Objective ABC Airborne Corps ABD Airborne Division ACAT Acquisition Category ADD Aerial...only one (1) non-steerable parachute in the U.S. Army’s inventory , the T-11 Advanced Tactical Parachute System (ATPS). The T-11’s modified cross...current parachutes in the U.S. inventory have come a long way since the inception of airborne operations. This section provides a discussion of the

  10. Compelling Evidence for a Prostate Cancer Gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics

    Science.gov (United States)

    Camp, Nicola J.; Cannon-Albright, Lisa A.; Farnham, James M.; Baffoe-Bonnie, Agnes B.; George, Asha; Powell, Isaac; Bailey-Wilson, Joan E.; Carpten, John D.; Giles, Graham G.; Hopper, John L.; Severi, Gianluca; English, Dallas R.; Foulkes, William D.; Maehle, Lovise; Moller, Pal; Eeles, Ros; Easton, Douglas; Badzioch, Michael D.; Whittemore, Alice S.; Oakley-Girvan, Ingrid; Hsieh, Chih-Lin; Dimitrov, Latchezar; Xu, Jianfeng; Stanford, Janet L.; Johanneson, Bo; Deutsch, Kerry; McIntosh, Laura; Ostrander, Elaine A.; Wiley, Kathleen E.; Isaacs, Sarah D.; Walsh, Patrick C.; Thibodeau, Stephen N.; McDonnell, Shannon K.; Hebbring, Scott; Schaid, Daniel J.; Lange, Ethan M.; Cooney, Kathleen A.; Tammela, Teuvo L.J.; Schleutker, Johanna; Paiss, Thomas; Maier, Christiane; Grönberg, Henrik; Wiklund, Fredrik; Emanuelsson, Monica; Isaacs, William B.

    2009-01-01

    Previously, an analysis of 14 extended, high-risk Utah pedigrees localized the chromosome 22q linkage region to 3.2 Mb at 22q12.3-13.1 (flanked on each side by three recombinants), which contained 31 annotated genes. In this large, multi-centered, collaborative study, we performed statistical recombinant mapping in fifty-four pedigrees selected to be informative for recombinant mapping from nine member groups of the International Consortium for Prostate Cancer Genetics (ICPCG). These 54 pedigrees included the 14 extended pedigrees from Utah and 40 pedigrees from eight other ICPCG member groups. The additional 40 pedigrees were selected from a total pool of 1,213 such that each pedigree was required to both contain at least four prostate cancer (PRCA) cases and exhibit evidence for linkage to the chromosome 22q region. The recombinant events in these 40 independent pedigrees confirmed the previously proposed region. Further, when all 54 pedigrees were considered, the three-recombinant consensus region was narrowed by more than a megabase to 2.2 Mb at chromosome 22q12.3 flanked by D22S281 and D22S683. This narrower region eliminated 20 annotated genes from that previously proposed, leaving only eleven genes. This region at 22q12.3 is the most consistently identified and smallest linkage region for PRCA. This collaborative study by the ICPCG illustrates the value of consortium efforts and the continued utility of linkage analysis using informative pedigrees to localize genes for complex diseases. PMID:17478474

  11. Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

    DEFF Research Database (Denmark)

    Hansen, Christina Halgren; Bache, Iben; Bak, Mads

    2012-01-01

    Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, and eye manifestations. Here, we report a male patient with a de novo translocation involving chromosomes......, and it adds to the growing evidence, including a transgenic mouse model, that CELF4 is important for human brain development.European Journal of Human Genetics advance online publication, 23 May 2012; doi:10.1038/ejhg.2012.92....

  12. A 3.2Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

    DEFF Research Database (Denmark)

    Gilling, M.; Henriksen, K.F.; Lauritsen, M.B.

    2008-01-01

    susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5; 18)(q34; q12.2). Further analyses revealed a 3.2Mb deletion encompassing 17 genes at the 18q break point and an additional...... deletion of 1.27Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient...

  13. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome.

    Science.gov (United States)

    Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine; Ravn, Kirstine; Brøndum-Nielsen, Karen; Bisgaard, Anne-Marie; Tümer, Zeynep

    2015-11-01

    Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities. Cornelia de Lange syndrome (CdLS, OMIM #122470; #300590; #610759; #300882; #614701) was suggested as a differential diagnosis in childhood although he lacked some of the features typical for this disorder. He does not have a mutation in any of the five known CdLS genes (NIPBL, SMC1A, SMC3, HDAC8, RAD21), but a 1.6Mb deletion at chromosome region 11q12.3-11q13.1 was detected by chromosome microarray. The deletion contains several genes including PPP2R5B, which has been associated with intellectual disability and overgrowth; NRXN2, which has been associated with intellectual disability and autism spectrum disorder; and CDCA5, which is part of the cohesin pathway, as are all the five known CdLS genes. It is therefore possible that deletion of CDCA5 may account for some of the CdLS like features of the present case. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. Coexistence of tetrasomy 8 and trisomy 8 in acute promyelocytic leukemia (AML-M3) with t(15;17)(q22;q12).

    Science.gov (United States)

    Wang, Hui-Ping; Li, Guo-Xia; Qiao, Zhen-Hua; Ren, Wen-Ying; Wang, Hong-Wei

    2004-08-01

    This study was purposed to characterize the first case of acute promyelocitic leukemia (AML-M(3a)) with t(15;17), trisomy 8 and tetrasomy 8, and explore its characteristics of morphology, cytogenetics, molecular biology, immunology and clinical features. Morphological changes of peripheral blood and bone marrow smears were observed under microscope. Chromosome specimen was prepared by 24 h short-term culture of bone marrow cell, RHG-banding technique was used for karyotypic analysis. PML-RARa fusion gene transcript was detected by nested-reverse transcription-polymerase chain reaction (nested RT-PCR). Interphase fluorescence in situ hybridization (FISH) using chromosome 8 centromere specific probe were carried out to detect abnormal numbers of chromosome 8. Immunophenotypic analysis was performed by flow cytometry. The results showed that peripheral blood smear revealed 65% promyelocyte, and bone marrow aspirate was hypercellular with 72.4% promyelocyte, moderately basophilic cytoplasm with numerous azurophilic granules. Karyotype analysis demonstrated 48, XY, +8, +8, t(15;17)(q22;q12) [16]/47, XY, +8, t(15;17)(q22;q12) [3]/46, XY, t(15;17)(q22;q12) [1]. RT-PCR assay revealed PML-RARa fusion gene transcript (+). FISH showed that the percentages of cells exhibiting 1, 2, 3, 4, 5, 6 green fluorescence signals were 0.5, 7, 19, 55, 18 and 0.5, respectively. This confirmed the presence of tetrasomy 8 and trisomy 8 and also revealed a low percentage of a pentasomy 8 clone. Immunophenotypes of the blasts displayed that CD13 (96.2%), CD33 (55.9%), CYMPO (93.5%) were positive. All the lymphoid markers tested were negative. The patient survival time was just 10 days. It is concluded that tetrasomy 8 is secondary cytogenetic event after t(15;17) in this case. It may be a consequence of clonal evolution of trisomy 8. t(15;17) AML-M(3) with tetrasomy 8 heralds a poor prognosis.

  15. Comparison of uptake of 99mTc-MIBI, 99mTc-tetrofosmin and 99mT-Q12 into human breast cancer cell lines

    International Nuclear Information System (INIS)

    Yong, M. de; Bernard, B.F.; Breeman, W.A.P.; Ensing, G.; Benjamins, H.; Bakker, W.H.; Visser, T.J.; Krenning, E.P.

    1996-01-01

    Technetium-99m hexakis-2-methoxyisobutyl-isonitrile (MIBI), 99m Tc-tetrofosmin and 99m Tc-Q12 were all introduced for myocardial imaging but found additional applications as they are taken up by different tumours, enabling imaging of these lesions in patients. The aim of this study was to compare the uptake characteristics of these compounds in vitro in the human adenocarcinoma breast cell lines MCF-7 and ZR-75. It was shown that 99m Tc-MIBI had the highest cellular uptake (15.9%±0.5% dose/mg protein after 60 min in MCF-7, and 14.2%±0.4% dose/mg protein in ZR-75), followed by 99m Tc-tetrofosmin (6.8%±0.6% dose/mg protein in MCF-7, and 8.2%±0.2% dose/mg protein in ZR-75) and 99m TC-Q12 (3.2%±0.1% dose/mg protein in MCF-7, and 3.5%±0.3% dose/mg protein in ZR-75 cells). For all three compounds tenfold differences in specific activity did not influence total cell-associated radioactivity. Uptake of 99m Tc-MIBI and 99m Tc-tetrofosmin was obviously lower at 4 C than at 37 C, whereas 99m Tc-Q12 uptake showed only slight temperature dependence. When uptake was compared in cells grown to different cell densities (1 mg/ml cellular protein versus 0.3 mg/ml), no differences in uptake were detected when uptake was corrected for the amount of cellular protein present in the dishes. Furthermore, for all compounds it was shown that cellular radioactivity decreased rapidly after washing. Apart from the differences in cellular uptake of the three compounds after 60 min, no differences in residual cellular radioactivity after washing were found between the different compounds when expressed as a percentage of their 60-min uptake, suggesting that the efflux process of the radiolabelled compounds was similar. The differences in cell-associated activity after 60 min were thus presumably caused by differences in uptake. (orig./MG)

  16. The human genes for desmogleins (DSG1 and DSG3) are located in a small region on chromosome 18q12

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Yimin; Amagai, Masayuki; Minoshima, Shinsei; Sakai, Kosuke; Nishikawa, Takeji; Shimizu, Nobuyoshi (Keio Univ. School of Medicine, Tokyo (Japan)); Green, K.J. (Northwestern Univ. Medical School, Chicago, IL (United States))

    1994-04-01

    Desmoglein is a transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Two of the three currently known desmogleins are the autoantigens of autoimmune skin blistering diseases, pemphigus vulgaris and pemphigus foliaceus, in which autoantibodies cause the loss of cell adhesion of keratinocytes with resultant blister formation. In this study, the genes for two autoantigens (DSG1 for pemphigus foliaceus and DSG3 for pemphigus vulgaris) were mapped on band q12 of human chromosome 18 by fluorescence in situ hybridization. Furthermore, both genes were localized on a 320-kb genomic fragment separated by pulsed-field gel electrophoresis. These results suggest the possibility of a cluster for the desmoglein gene family on chromosome 18. 29 refs., 2 figs.

  17. Identification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia Breast Cancer Consortium.

    Directory of Open Access Journals (Sweden)

    Jirong Long

    2010-06-01

    Full Text Available Genetic factors play an important role in the etiology of breast cancer. We carried out a multi-stage genome-wide association (GWA study in over 28,000 cases and controls recruited from 12 studies conducted in Asian and European American women to identify genetic susceptibility loci for breast cancer. After analyzing 684,457 SNPs in 2,073 cases and 2,084 controls in Chinese women, we evaluated 53 SNPs for fast-track replication in an independent set of 4,425 cases and 1,915 controls of Chinese origin. Four replicated SNPs were further investigated in an independent set of 6,173 cases and 6,340 controls from seven other studies conducted in Asian women. SNP rs4784227 was consistently associated with breast cancer risk across all studies with adjusted odds ratios (95% confidence intervals of 1.25 (1.20-1.31 per allele (P = 3.2 x 10(-25 in the pooled analysis of samples from all Asian samples. This SNP was also associated with breast cancer risk among European Americans (per allele OR = 1.19, 95% CI = 1.09-1.31, P = 1.3 x 10(-4, 2,797 cases and 2,662 controls. SNP rs4784227 is located at 16q12.1, a region identified previously for breast cancer risk among Europeans. The association of this SNP with breast cancer risk remained highly statistically significant in Asians after adjusting for previously-reported SNPs in this region. In vitro experiments using both luciferase reporter and electrophoretic mobility shift assays demonstrated functional significance of this SNP. These results provide strong evidence implicating rs4784227 as a functional causal variant for breast cancer in the locus 16q12.1 and demonstrate the utility of conducting genetic association studies in populations with different genetic architectures.

  18. Prader-Willi syndrome due to an unbalanced de novo translocation [t(15;19)(q12;p13.3)

    Science.gov (United States)

    Dang, Vy; Surampalli, Abhilasha; Manzardo, Ann M; Youn, Stephanie; Butler, Merlin G; Gold, June-Anne; Kimonis, Virginia

    2018-01-01

    Background and Aims Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic and behavioral abnormalities. We report the first case of an unbalanced de-novo reciprocal translocation of chromosome 15 and 19: 45,XY,-15, der (19)t(15;19)(q12;p13.3) resulting in monosomy for the PWS chromosome critical region. We performed high resolution SNP microarray to characterize the breakpoints. Case report Our patient had several typical features for PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet and food seeking but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. Results High resolution SNP microarray analysis identified an atypical PWS Type I deletion of chromosome 15 involving proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11-q13 region and GABRA5, GABRG3 and OCA2 genes were intact. Conclusion We report a case with atypical features for PWS associated with an unbalanced de-novo reciprocal translocation resulting in monosomy for the 15q11.1–15q12 with intact GABRA5, GABRG3 and OCA2 genes. No deletion of 19p13.3 band was detected therefore the patient was not at an increased risk of tumors from Peutz-Jeghers syndrome associated with a deletion of the STK11 gene. PMID:27894106

  19. Genome-wide linkage scan for prostate cancer susceptibility genes in men with aggressive disease: significant evidence for linkage at chromosome 15q12.

    Science.gov (United States)

    Lange, Ethan M; Ho, Lindsey A; Beebe-Dimmer, Jennifer L; Wang, Yunfei; Gillanders, Elizabeth M; Trent, Jeffrey M; Lange, Leslie A; Wood, David P; Cooney, Kathleen A

    2006-05-01

    Epidemiological and twin studies have consistently demonstrated a strong genetic component to prostate cancer (PCa) susceptibility. To date, numerous linkage studies have been performed to identify chromosomal regions containing PCa susceptibility genes. Unfortunately, results from these studies have failed to form any obvious consensus regarding which regions are most likely to contain genes that may contribute to PCa predisposition. One plausible explanation for the difficulty in mapping susceptibility loci is the existence of considerable heterogeneity in the phenotype of PCa, with significant variation in clinical stage and grade of disease even among family members. To address this issue, we performed a genome-wide linkage scan on 71 informative families with two or more men with aggressive PCa. When only men with aggressive PCa were coded as affected, statistically significant evidence for linkage at chromosome 15q12 was detected (LOD=3.49; genome-wide p=0.005). Furthermore, the evidence for linkage increased when analyses were restricted to Caucasian-American pedigrees (n=65; LOD=4.05) and pedigrees with two confirmed aggressive cases (n=42, LOD=4.76). Interestingly, a 1-LOD support interval about our peak at 15q12 overlaps a region of suggestive linkage, 15q11, identified by a recent linkage study on 1,233 PCa families by the International Consortium for Prostate Cancer Genetics. Using a more rigid definition of PCa in linkage studies will result in a severe reduction in sample sizes available for study, but may ultimately prove to increase statistical power to detect susceptibility genes for this multigenic trait.

  20. 2017-11-18T11:50:57Z https://www.ajol.info/index.php/index/oai oai ...

    African Journals Online (AJOL)

    article/46536 2017-11-18T11:50:57Z lwati:ART Managerial Effectiveness: Impact of Emotional Intelligence and Work-Family Role Conflict in Work Organizations in Nigeria. Akintayo, DI This study investigated the impact of emotional ...

  1. 2017-10-30T11:50:39Z https://www.ajol.info/index.php/index/oai oai ...

    African Journals Online (AJOL)

    article/47583 2017-10-30T11:50:38Z afrrev:ART Study Habit, Self-Concept and Science Achievement of Public and Private Junior Secondary School Students in Ogun State, Nigeria Olatoye, RA This study compared study habit, self-concept ...

  2. A 4 Mb High Resolution BAC Contig on Bovine Chromosome 1q12 and Comparative Analysis With Human Chromosome 21q22

    Directory of Open Access Journals (Sweden)

    Ottmar Distl

    2006-04-01

    Full Text Available The bovine RPCI-42 BAC library was screened to construct a sequence-ready ~4 Mb single contig of 92 BAC clones on BTA 1q12. The contig covers the region between the genes KRTAP8P1 and CLIC6. This genomic segment in cattle is of special interest as it contains the dominant gene responsible for the hornless or polled phenotype in cattle. The construction of the BAC contig was initiated by screening the bovine BAC library with heterologous cDNA probes derived from 12 human genes of the syntenic region on HSA 21q22. Contig building was facilitated by BAC end sequencing and chromosome walking. During the construction of the contig, 165 BAC end sequences and 109 single-copy STS markers were generated. For comparative mapping of 25 HSA 21q22 genes, genomic PCR primers were designed from bovine EST sequences and the gene-associated STSs mapped on the contig. Furthermore, bovine BAC end sequence comparisons against the human genome sequence revealed significant matches to HSA 21q22 and allowed the in silico mapping of two new genes in cattle. In total, 31 orthologues of human genes located on HSA 21q22 were directly mapped within the bovine BAC contig, of which 16 genes have been cloned and mapped for the first time in cattle. In contrast to the existing comparative bovine–human RH maps of this region, these results provide a better alignment and reveal a completely conserved gene order in this 4 Mb segment between cattle, human and mouse. The mapping of known polled linked BTA 1q12 microsatellite markers allowed the integration of the physical contig map with existing linkage maps of this region and also determined the exact order of these markers for the first time. Our physical map and transcript map may be useful for positional cloning of the putative polled gene in cattle. The nucleotide sequence data reported in this paper have been submitted to EMBL and have been assigned Accession Numbers AJ698510–AJ698674.

  3. Acanthamoeba genotypes T2, T4, and T11 in soil sources from El Hierro island, Canary Islands, Spain.

    Science.gov (United States)

    Reyes-Batlle, María; Zamora-Herrera, Jonadab; Vargas-Mesa, Alejandro; Valerón-Tejera, Marco Antonio; Wagner, Carolina; Martín-Navarro, Carmen Ma; López-Arencibia, Atteneri; Sifaoui, Ines; Martínez-Carretero, Enrique; Valladares, Basilio; Piñero, José E; Lorenzo-Morales, Jacob

    2016-08-01

    The genus Acanthamoeba includes pathogenic strains which are causative agents of keratitis and encephalitis that often may end fatal in humans and other animals. In the present study, forty soil samples were collected in the island of El Hierro, Canary Islands, Spain, and checked for the presence of Acanthamoeba. Samples were cultivated onto 2 % non-nutrient agar plates seeded with a layer of heat killed Escherichia coli. Amplification by PCR and sequencing of the DF3 region of the 18S rDNA of Acanthamoeba was carried out in order to confirm morphological identification of the amoebae. Furthermore, Acanthamoeba spp. was isolated from 47.5 % of soil samples. Moreover, genotypes T2, T4, and T11 were identified in these samples. To the best of our knowledge, this is the first study to establish genotypes T2, T4, and T11 in soil sources from El Hierro island.

  4. Pulsed time-of-flight refractometry measurements of the electron density in the T-11M tokamak

    International Nuclear Information System (INIS)

    Petrov, A.A.; Petrov, V.G.; Malyshev, A.Yu.; Markov, V.K.; Babarykin, A.V.

    2002-01-01

    A new method for measuring the plasma density in magnetic confinement systems - pulsed time-of-flight refractometry - is developed and tested experimentally in the T-11M tokamak. The method is based on the measurements of the time delay of short (with a duration of several nanoseconds) microwave pulses propagating through the plasma. When the probing frequency is much higher than the plasma frequency, the measured delay in the propagation time is proportional to the line-averaged electron density regardless of the density profile. A key problem in such measurements is the short time delay of the pulse in the plasma (∼1 ns or less for small devices) and, consequently, low accuracy of the measurements of the average density. Various methods for improving the accuracy of such measurements are proposed and implemented in the T-11M experiments. The measurements of the line-averaged density in the T-11M tokamak in the low-density plasma regime are performed. The results obtained agree satisfactorily with interferometric data. The measurement errors are analyzed, and the possibility of using this technique to measure the electron density profile and the position of the plasma column is discussed

  5. 19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update

    Directory of Open Access Journals (Sweden)

    Nacinovich R

    2017-10-01

    Full Text Available Renata Nacinovich,1,2 Nicoletta Villa,3 Fiorenza Broggi,1,2 Cristina Tavaniello,1 Monica Bomba,1 Donatella Conconi,2 Serena Redaelli,2 Elena Sala,3 Marialuisa Lavitrano,2 Francesca Neri1,2 1Childhood and Adolescence Neuropsychiatric Unit, San Gerardo Hospital, 2School of Medicine and Surgery, University of Milano Bicocca, 3Medical Genetics Laboratory, Clinical Pathology Department, San Gerardo Hospital, Monza, Italy Abstract: Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients’ quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome. Keywords: 19q duplication, neuropsychiatric follow-up, array-CGH

  6. Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.

    Science.gov (United States)

    Jelena, Brezo; Christina, Lam; Eric, Vilain; Fabiola, Quintero-Rivera

    2014-06-01

    Waardenburg syndrome (WS) is a neurocristopathy characterized by pigmentation abnormalities of the skin, hair, and iris, as well as sensorineural hearing loss. Contiguous gene deletions encompassing SOX10 are rare, which limits conclusions about genotype-phenotype correlation regarding patient prognosis and management. This study adds to the existing body of knowledge by characterizing a 2.4 Mb deletion [arr[hg19] 22q12.3-q13.1 (36467502-38878207)x1] encompassing SOX10 and 53 additional RefSeq genes in a 15-year-old female with atypical WS. The patient presented with developmental delay, profound bilateral sensorineural hearing loss, heterochromia iridis, hypotonia, and bilateral finger contractures. Published genomic and phenotypic profiles of patients with SOX10-encompassing deletions point toward several plausible candidate gene that could account for the considerable clinical heterogeneity. These studies suggest the existence of modifiers among the co-deleted, dosage-sensitive genes (e.g., MYH9) and among genes whose effect may depend on the unmasking of recessive mutations (e.g., PLA2G6). Finally, we highlight evidence illustrating extensive interconnectivity of SOX10-hypothesizing that haploinsufficiency of SOX10 may "unmask" subtler effects on expression or epistasis associated with variants in SOX10 targets (e.g., DHH), in its partners (e.g., PAX3, EGR2), and in genes with functional overlap (e.g., SOX8, SOX9). © 2014 Wiley Periodicals, Inc.

  7. Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts.

    Science.gov (United States)

    Schmutz, S M; Simpson, N E

    1983-01-01

    A colorimetric assay using leucyl-beta-napthylamide hydrochloride as substrate and fast garnet GBC as the color reagent was developed for these regional mapping studies of peptidase S (PEPS). PEPS activity was measured in white blood cells from three patients with Wolf-Hirschhorn syndrome (4p-) and 50 controls. The enzyme activity of the three patients, mean 0.097 +/- 0.060 (SD) did not exhibit a significant dosage effect compared to the controls, mean 0.125 +/- 0.060 (SD) mIU/mg protein. Peptidase activity was compared among five fibroblast control lines and eight lines with chromosome 4 aberrations. There was no significant difference found among the 128 samples from aberrant lines, mean of partial monosomies = 0.095 +/- 0.049 (SD) and mean of partial trisomies = 0.084 +/- 0.046 (SD) and the 79 samples from control lines, mean = 0.092 +/- 0.043 (SD) mIU/mg protein. Degree of confluence, site of biopsy, and sex and age of donor did not affect PEPS activity in fibroblasts but generation number did (r = 0.367, P = 0.001). No gene dosage was found in the white blood cells or fibroblast lines studied. The locus for PEPS is therefore mapped to 4p11 leads to 4q13 by exclusion. Combining these data with those previously reported, the suggested assignment for the PEPS locus is the 4p11 leads to 4q12 segment of chromosome 4.

  8. Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).

    Science.gov (United States)

    Dang, Vy; Surampalli, Abhilasha; Manzardo, Ann M; Youn, Stephanie; Butler, Merlin G; Gold, June-Anne; Kimonis, Virginia E

    2016-01-01

    Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. High-resolution SNP microarray analysis identified an atypical PWS type I deletion in chromosome 15 involving the proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11q13 region, and GABRA5, GABRG3, and OCA2 genes were intact. No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene. © 2016 S. Karger AG, Basel.

  9. Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

    Science.gov (United States)

    Machida, Junichiro; Félix, Têmis M; Murray, Jeffrey C; Yoshiura, Koh-ichiro; Tanemura, Mitsuyo; Kamamoto, Munefumi; Shimozato, Kazuo; Sonta, Shin-ichi; Ono, Takao

    2009-09-01

    Identification of the breakpoints of disease-associated chromosome rearrangements can provide informative clues to a positional cloning approach for genes responsible for inherited diseases. Recently, we found a three-generation Japanese family segregating balanced chromosome translocation t(9;17)(q32;q12). One of the subjects had cleft lip and palate. We examined whether regions near the breakpoint could be associated with cleft lip and/or palate. We determined the breakpoints involved in the translocation by fluorescence in situ hybridization analysis and subsequent long-range polymerase chain reaction. In order to study the role of these disrupted regions in nonsyndromic cleft lip and/or palate, we performed mutation analysis and a haplotype-based transmission disequilibrium test using tagging single-nucleotide polymorphisms in the flanking regions of the breakpoints in white and Filipino nonsyndromic cleft lip and/or palate populations. Sequence analysis demonstrated that two genes, SLC31A1 (solute carrier family 31 member 1) on chromosome 9 and CCL2 (chemokine ligand 2) on chromosome 17, were rearranged with the breaks occurring within their introns. It is interesting that SLC31A1 lies closed to BSPRY (B-box and SPRY domain), which is a candidate for involvement with cleft lip and/or palate. Some of the variants in BSPRY and CCL2 showed significant p values in the cleft lip and/or palate population compared with the control population. There was also statistically significant evidence of transmission distortion for haplotypes on both chromosomes 9 and 17. The data support previous reports that genes on chromosomal regions of 9q and 17q play an important role in facial development.

  10. Acanthamoeba keratitis due to genotype T11 in a rigid gas permeable contact lens wearer in Spain.

    Science.gov (United States)

    Lorenzo-Morales, Jacob; Morcillo-Laiz, Rafael; Martín-Navarro, Carmen Ma; López-Vélez, Rogelio; López-Arencibia, Atteneri; Arnalich-Montiel, Francisco; Maciver, Sutherland K; Valladares, Basilio; Martínez-Carretero, Enrique

    2011-04-01

    A case of a 59-year-old Spanish patient who presented with severe ocular pain, blurred vision, eyelid swelling and foreign body sensation in the right eye is reported. She was a regular gas permeable contact lens [corrected] wearer who initially claimed to maintain standard lens care. After exploration, conjunctival injection, dendritiform corneal ulcers and stromal edema were observed. She was initially treated for a possible viral keratitis due to herpes simplex virus using 3% topical acyclovir and 0.1% dexamethasone eye drops 5 times a day. The patient did not respond to this treatment and six weeks later, corneal scrapings were positive for Acanthamoeba genotype T11. She was then treated with chlorhexidine 0.02%, propamidine 0.1% and 1% cycloplegic eye drops hourly which resulted in a significant improvement. After a month, ocular pain decreased and the clinical signs of keratitis ameliorated observed as a diminution of the size of the ulcer and also in the extension and opacity of the corneal infiltrates. The patient has been following this treatment for 3 months and it is possible that she will have to carry on with it for a whole year. To the best of our knowledge, this is the first case of severe keratitis due to Acanthamoeba genotype T11 in Spain . Copyright © 2010 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

  11. Development of fast video recording of plasma interaction with a lithium limiter on T-11M tokamak

    Energy Technology Data Exchange (ETDEWEB)

    Lazarev, V.B., E-mail: v_lazarev@triniti.ru [SSC RF TRINITI Troitsk, Moscow (Russian Federation); Dzhurik, A.S.; Shcherbak, A.N. [SSC RF TRINITI Troitsk, Moscow (Russian Federation); Belov, A.M. [NRC “Kurchatov Institute”, Moscow (Russian Federation)

    2016-11-15

    Highlights: • The paper presents the results of the study of tokamak plasma interaction with lithium capillary-porous system limiters and PFC by high-speed color camera. • Registration of emission near the target in SOL in neutral lithium light and e-folding length for neutral Lithium measurements. • Registration of effect of MHD instabilities on CPS Lithium limiter. • A sequence of frames shows evolution of lithium bubble on the surface of lithium limiter. • View of filament structure near the plasma edge in ohmic mode. - Abstract: A new high-speed color camera with interference filters was installed for fast video recording of plasma-surface interaction with a Lithium limiter on the base of capillary-porous system (CPS) in T-11M tokamak vessel. The paper presents the results of the study of tokamak plasma interaction (frame exposure time up to 4 μs) with CPS Lithium limiter in a stable stationary phase, unstable regimes with internal disruption and results of processing of the image of the light emission around the probe, i.e. e-folding length for neutral Lithium penetration and e-folding length for Lithium ion flux in SOL region.

  12. Isolation and genotyping of Acanthamoeba strains (T4, T9, and T11) from amoebic keratitis patients in Iran.

    Science.gov (United States)

    Hajialilo, Elham; Behnia, Massoud; Tarighi, Fatemeh; Niyyati, Maryam; Rezaeian, Mostafa

    2016-08-01

    The continuous increase in Acanthamoeba keratitis, a severe corneal infection, worldwide is mainly due to the increase in the number of soft contact lens users. In the present study, which involves a 5-year study, a total of 138 corneal scraps and contact lenses together with their paraphernalias were obtained from suspected amoebic keratitis patients. All samples were cultured using culture-enrichment method. Pathogenic assay, using thermotolerance and osmotolerance tests were also performed on the positive strains. Sequencing of the isolated strains was done by targeting the DF3 region of 18s rRNA gene. The results revealed that 18 (13 %) of patients were infected with Acanthamoeba spp. As expected, T4 genotype was the most common genotype among the clinical samples; however, in three cases, Acanthamoeba belonging to T11 and T9 were detected. Interestingly, T9 genotype, commonly classified as non-pathogenic amoebae, was identified as a causal agent of a patient with amoebic keratitis. From the pathogenic assay, four strains belonging to T4 genotypes were highly pathogenic. This is the first report of Acanthamoeba T9 genotypes isolated in Iran and the first report of T9 type occurring in amoebic keratitis patients worldwide. Due to the increasing trend of amoebic keratitis (AK) and the identification of new genotypes, such as T9 as the causative agent of AK, more researches in this field are necessary in the region and the world at large.

  13. Vector analyzing power iT11 in the π+d-->pp reaction in the energy region Tπ=350-450 MeV

    Science.gov (United States)

    Bazhanov, N. A.; Efimovykh, V. A.; Fedorov, O. Ya.; Kalentarova, S. I.; Kovalev, A. I.; Murzin, V. I.; Popov, V. E.; Prokofiev, A. N.; Polyakov, V. V.; Shvedchikov, A. V.; Shchedrov, V. A.; Trautman, V. Yu.; Vovchenko, V. G.; Zhdanov, A. A.; Bunyatova, E. I.; Kazarinov, Yu. M.; Usov, Yu. A.; Boschitz, E.; Brinkmöller, B.; Wessler, M.

    1993-01-01

    The vector analyzing power iT11 of the reaction πd-->pp was measured at Tπ=350, 400, and 450 MeV. The results obtained at Tπ=350 MeV are in agreement with earlier measurements of iT11 at 325 MeV. With increasing energies our results show a marked increase in the vector analyzing power up to a value close to its theoretical limit at Tπ=450 MeV (√s =2.40 GeV). In this energy region broad structure has been found in earlier measurements of dσ/dΩ and Ay0.

  14. A childhood acute lymphoblastic leukemia (ALL case with t(3;17(q23;p13,t(5;12(q31;p13,inv(11(p15q12

    Directory of Open Access Journals (Sweden)

    Ayse Cirakoglu

    2008-09-01

    Full Text Available It is known that clonal chromosomal changes in childhood ALL are nonrandom and important markers for diagnosis, prognosis and relaps. In this report we present 4 year-old boy with ALL-L1 who has complex chromosomal rearrangements. Chromosome analysis was performed on bone marrow aspiration sample in relaps after one year from diagnosis and induction chemotherapy. The karyotype was; 46,XY,t(3;17(q23;p13,t(5;12(q31;p13,inv(11(p15q12 [11]/46,XY[8

  15. 2018-02-27T11:45:12Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/48409 2018-02-27T11:45:12Z ajfand:ART Enhancement of the nutritive value of bagasse using chicken manure. Anakalo, S Abdul, F Anakalo, MG Fermentation, Bagasse, Chicken, Manure, Digestibility The study investigated the effects of ...

  16. 2018-03-30T11:39:22Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/1580 2018-03-30T11:39:21Z as:ART Community Strategies For The Conservation And Preservation Of Forest Resources In Nsukka Agricultural Zone Of Nigeria Ozor, N Odo, P The study identified the community strategies for conservation ...

  17. 2018-05-03T11:18:26Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/17882 2018-05-03T11:18:26Z jgsa:ART Isoforms of purified methyltransferase from human blood platelets Yeboah, F.A.; Department of Molecular Medicine, School of Medical Sciences, Kwame Nkrumah University of Science and ...

  18. 2018-02-21T11:00:31Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/21134 2018-02-21T11:00:31Z bcse:ART REMOVAL OF LEAD IONS FROM INDUSTRIAL WASTE WATER BY USING BIOMATERIALS – A NOVEL METHOD Singanan*, Malairajan; Departmentof Applied Chemistry, Ambo College – Jimma ...

  19. 2018-02-23T11:03:11Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/72141 2018-02-23T11:03:11Z majohe:ART Obstacles to the Internationalisation of Higher Education in Africa: the Case of Uganda Kasenene, ES Internationalisation; Curriculum innovation; Cross border education As the world turns into a ...

  20. 2018-02-23T11:03:24Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/90336 2018-02-23T11:03:24Z njtr:ART Design and construction of a microcontroller based single axis solar tracker Zubair, S Suleiman, A Abdulazzez, HT Salihu, BA Solar, Tracking, Microcontroller, photocells, drivers, single axis. Solar ...

  1. 2018-02-26T11:18:10Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/77283 2018-02-26T11:18:10Z janm:ART Strategizing Globalization for the Advancement of African Music Identity Idolor, E Globalization is the integration of the activities of various people irrespective of distance and national boundaries.

  2. 2018-02-26T11:14:03Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/44115 2018-02-26T11:14:03Z as:ART Chemical And Sensory Evaluation Of Soy-Fortified Cassavawheat Biscuit Ugwuona, FU Soy flour, cassava flour, quality evaluation, biscuits This study evaluated the effect of substituting 20% cassava ...

  3. 2018-04-26T11:40:22Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/91190 2018-04-26T11:40:22Z ifep:ART Memory and Digit Span Experiment among Psychology Students in Lagos State, Nigeria Adewuyi, TDO Ayenibiowo, KO Memory, Digit Span and Psychology Students. The study was an experimental ...

  4. 2018-03-30T11:42:59Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/84852 2018-03-30T11:42:59Z ajce:ART A diagnostic assessment of eighth grade students' and their teachers' misconceptions about basic chemical concepts Lemma, A Even though many students at all levels struggle to learn chemistry ...

  5. 2018-03-01T11:23:18Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/48427 2018-03-01T11:23:18Z wajm:ART Marfan Syndrome: A Study of a Nigerian ... MATERIALS: Detailed history, clinical and laboratory investigations including ophthalmologic assessment and echocardiography were carried out on all ...

  6. 2018-02-24T11:53:44Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/23789 2018-02-24T11:53:44Z ifep:ART Islamic Perspective To Xenophobia Hammed, A This paper attempts to look at the position of Islamic religion to a vexing and current issue called Xenophobia. We therefore made spirited effort at ...

  7. 2018-03-01T11:50:56Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/41093 2018-03-01T11:50:56Z jacar:ART The Study Of Corrosion Inhibition Of Mild Steel In Hydrochloric Acid Solutions By Methyl And Phenyl Derivatives Of Thiosemicarbazone Using Thermometric Method Ita, BI Ekpe, UJ Ibok, UJ The ...

  8. 2018-04-12T11:36:34Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/70135 2018-04-12T11:36:34Z sajaa:ART Difficult airways: a reliable “Plan B” Bishop, DG Farina, Z Wise, RD difficult airway, percutaneous jet ventilation, rescue ventilation Percutaneous transtracheal jet ventilation (PTJV) is an accepted ...

  9. 2018-03-17T11:04:39Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/85176 2018-03-17T11:04:39Z tjog:ART A critic of maternal mortality ... poor leadership of the health sector by the health ministries; poor coordination of maternal mortality reduction activities; poor development of human resources and ...

  10. 2018-03-15T11:31:30Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/81259 2018-03-15T11:31:30Z nhj:ART An HIV-1 infected patient with Neurofibromatosis type 1: A case report Isa, SE Silas, A Daniyam, C Iroezindu, M Agaba, A Agbaji, O Neurofibromatosis type 1, HIV Infection, cutaneous lesions, HAART ...

  11. 2018-02-26T11:40:27Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/91242 2018-02-26T11:40:27Z sajal:ART Talking nightclubs! ... This transdisciplinary ethnographic qualitative examination of a sample of the gathered 40 nightclub names submits that nightclub owners and administrators prefer names that ...

  12. 2018-03-17T11:01:17Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/94388 2018-03-17T11:01:17Z njcp:ART Pediatric HIV in Kano, Nigeria Obiagwu, PN Hassan-Hanga, ... The most frequent symptoms on presentation were fever in 95.4% of patients, cough and weight loss in 77.3% and diarrhoea in 59.1%.

  13. 2018-04-07T11:48:13Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/75073 2018-04-07T11:48:13Z cajtms:ART The Character and the Dramatic Action: A Playwright's Window on Ovonramwen in Ola Rotimi's Ovonramwen Noghbaisi Ukala, S Ola Rotimi’s characterisation of Ovonramwen in ...

  14. 2018-03-04T11:05:40Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/47649 2018-03-04T11:05:40Z njgc:ART Counselling needs of institutionalised African refugees in Ijebu-Oru refugee camp, Ogun State, Nigeria Dada, M Counselling Needs, African Refugees, Institutionalised, Ijebu-Oru, Nigeria. The study ...

  15. A NUP98-positive acute myeloid leukemia with a t(11;12)(p15;q13) without HOXC cluster gene involvement.

    Science.gov (United States)

    La Starza, Roberta; Brandimarte, Lucia; Pierini, Valentina; Nofrini, Valeria; Gorello, Paolo; Crescenzi, Barbara; Berchicci, Laura; Matteucci, Caterina; Romoli, Silvia; Beacci, Donatella; Rosati, Roberto; Martelli, Massimo F; Mecucci, Cristina

    2009-09-01

    We report a case of adult acute myeloid leukemia with a new t(11;12)(p15;q13) underlying a NUP98 rearrangement without HOXC cluster gene involvement. We designed a specific double-color double-fusion FISH assay to discriminate between this t(11;12)(p15;q13) and those producing NUP98-HOXC11 or NUP98-HOXC13. Our fluorescence in situ hybridization (FISH) showed that putative candidate partners mapping 600 kilobases centromeric to HOXC were RARG (retinoic acid receptor gamma), MFSD5 (major facilitator superfamily domain containing 5), and ESPL1 (extra spindle pole bodies homolog 1). It is noteworthy that so far only ESPL1 has been implicated in human cancers. This FISH assay is useful for diagnostic screening of NUP98-positive leukemias.

  16. Both NUP98/TOP1 and TOP1/NUP98 transcripts are detected in a de novo AML with t(11;20)(p15;q11).

    Science.gov (United States)

    Iwase, Satsuki; Akiyama, Nobutake; Sekikawa, Tetsuaki; Saito, Shinobu; Arakawa, Yasuhiro; Horiguchi-Yamada, Junko; Yamada, Hisashi

    2003-09-01

    The NUP98 gene is involved in several chromosomal abnormalities associated with acute leukemia. The recurrent t(11;20)(p15;q11) chromosomal translocation results in generation of the NUP98/TOP1 chimeric gene. This abnormality has been observed primarily in therapy-related leukemias, and TOP1/NUP98 transcripts have not been demonstrated. We describe a case of de novo acute myeloid leukemia with t(11;20)(p15;q11), with no known history of exposure to chemicals. The translocation occurred in intron 13 of NUP98 and intron 7 of TOP1, as in the three previously reported cases. The breakpoint in NUP98 was exactly the same as that found in a previously reported case. In addition, a reciprocal TOP1/NUP98 transcript was detected for the first time in our patient. Copyright 2003 Wiley-Liss, Inc.

  17. Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13).

    Science.gov (United States)

    Panagopoulos, Ioannis; Isaksson, Margareth; Billström, Rolf; Strömbeck, Bodil; Mitelman, Felix; Johansson, Bertil

    2003-01-01

    The NUP98 gene at 11p15 is known to be fused to DDX10, HOXA9, HOXA11, HOXA13, HOXD11, HOXD13, LEDGF, NSD1, NSD3, PMX1, RAP1GDS1, and TOP1 in various hematologic malignancies. The common theme in all NUP98 chimeras is a transcript consisting of the 5' part of NUP98 and the 3' portion of the partner gene; however, apart from the frequent fusion to different homeobox genes, there is no apparent similarity among the other partners. We here report a de novo acute myeloid leukemia with a t(11;12)(p15;q13), resulting in a novel NUP98/HOXC13 fusion. Fluorescence in situ hybridization analyses, by the use of probes covering NUP98 and the HOXC gene cluster at 12q13, revealed a fusion signal at the der(11)t(11;12), indicating a NUP98/HOXC chimera, whereas no fusion was found on the der(12)t(11;12), suggesting that the translocation was accompanied by a deletion of the reciprocal fusion gene. Reverse transcription-PCR and sequence analyses showed that exon 16 (nucleotide 2290) of NUP98 was fused in-frame with exon 2 (nucleotide 852) of HOXC13. Neither the HOXC13/NUP98 transcript nor the normal HOXC13 was expressed. The present results, together with previous studies of NUP98/homeobox gene fusions, strongly indicate that NUP98/HOXC13 is of pathogenetic importance in t(11;12)-positive acute myeloid leukemia. Copyright 2002 Wiley-Liss, Inc.

  18. 2018-02-21T11:31:51Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/32665 2018-02-21T11:31:51Z bahpa:ART Adoption d\\'une nouvelle technique de contrôle de la mouche tsésé par des éleveurs du nord du Togo: considérations socio-économiques Bastiaensen, P; Projet régional FAO de lutte contre la ...

  19. T(11;18) is a marker for all stage gastric MALT lymphomas that will not respond to H. pylori eradication.

    Science.gov (United States)

    Liu, Hongxiang; Ye, Hongtao; Ruskone-Fourmestraux, Agnes; De Jong, Daphne; Pileri, Stefano; Thiede, Christian; Lavergne, Anne; Boot, Henk; Caletti, Giancarlo; Wündisch, Thomas; Molina, Thierry; Taal, Babs G; Elena, Sabattini; Thomas, Togliani; Zinzani, Pier Luigi; Neubauer, Andreas; Stolte, Manfred; Hamoudi, Rifat A; Dogan, Ahmet; Isaacson, Peter G; Du, Ming-Qing

    2002-05-01

    Eradication of Helicobacter pylori leads to cure of gastric mucosa-associated lymphoid tissue (MALT) lymphoma in 75% of localized cases. However, prolonged follow-up is necessary to determine whether a lymphoma responds to therapy. In a small series of cases, we showed that t(11;18)(q21;q21)-positive MALT lymphomas failed to respond to H. pylori eradication. The present study aimed to verify this finding in a large cohort and confirm whether the translocation predicts the response of stage I(E) tumors, for which clinical staging has little prognostic value. A total of 111 patients with H. pylori-positive gastric MALT lymphoma treated with antibiotics were studied. Clinical staging was undertaken before therapy. The response of lymphoma to H. pylori eradication was determined by histologic examination of gastric biopsy specimens. Diagnostic biopsy specimens were analyzed for t(11;18)(q21;q21) by reverse-transcription polymerase chain reaction of the API2-MALT1 transcript. Forty-seven of the 48 patients who showed complete regression had lymphoma at stage I(E), whereas 43 of the 63 nonresponsive cases were at stage I(E) and the remaining cases at stage II(E) or above. t(11;18)(q21;q21) was detected in 2 of 48 complete-regression cases, and these positive cases showed relapse of lymphoma in the absence of H. pylori reinfection. In contrast, the translocation was present in 42 of the 63 nonresponsive cases, including 26 of 43 (60%) at stage I(E). t(11;18)(q21;q21)-positive gastric MALT lymphomas, including those at stage I(E), do not respond to H. pylori eradication. Detection of the translocation should help the clinical management of patients with gastric MALT lymphoma.

  20. 2018-02-21T11:01:43Z https://www.ajol.info/index.php/all/oai oai:ojs ...

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    article/61280 2018-02-21T11:01:43Z afsci:ART Modélisation numérique des structures à non linéarité de contact local Selka, G Habi, M Kerdal, DE Modelising, ... Dans ce but un modèle 2D de calcul des contraintes de contact été développé.

  1. The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22(q24.13;q11.21 in a young girl with dysgerminoma

    Directory of Open Access Journals (Sweden)

    Fiorio Patrizia

    2009-07-01

    Full Text Available Abstract Background RNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas. TRC8 has the potential to act in a novel regulatory relationship linking the cholesterol/lipid biosynthetic pathway with cellular growth control and has been identified in families with hereditary renal (RCC and thyroid cancers. Haploinsufficiency of TRC8 may facilitate development of clear cell-RCC in association with VHL mutations, and may increase risk for other tumor types. We report a paternally inherited balanced translocation t(8;22 in a proposita with dysgerminoma. Methods The translocation was characterized by FISH and the breakpoints cloned, sequenced, and compared. DNA isolated from normal and tumor cells was checked for abnormalities by array-CGH. Expression of genes TRC8 and TSN was tested both on dysgerminoma and in the proposita and her father. Results The breakpoints of the translocation are located within the LCR-B low copy repeat on chromosome 22q11.21, containing the palindromic AT-rich repeat (PATRR involved in recurrent and non-recurrent translocations, and in an AT-rich sequence inside intron 1 of the TRC8 tumor-suppressor gene at 8q24.13. TRC8 was strongly underexpressed in the dysgerminoma. Translin is underexpressed in the dysgerminoma compared to normal ovary. TRC8 is a target of Translin (TSN, a posttranscriptional regulator of genes transcribed by the transcription factor CREM-tau in postmeiotic male germ cells. Conclusion A role for TRC8 in dysgerminoma may relate to its interaction with Translin. We propose a model in which one copy of TRC8 is disrupted by a palindrome-mediated translocation followed by complete loss of expression through suppression, possibly mediated by miRNA.

  2. Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.

    Science.gov (United States)

    Goh, Elaine Suk-Ying; Banwell, Brenda; Stavropoulos, Dimitri James; Shago, Mary; Yoon, Grace

    2014-03-01

    We report on a girl with a de novo mosaic derivative chromosome 17 involving a 7.4 Mb deletion of chromosome region 17p11.2 to 17p12 and a duplication of a 12.35 Mb region at 17q22 to 17q24. She was ascertained because of developmental delay, peripheral neuropathy, brachydactyly and minor anomalies. The derivative chromosome was present in approximately 12% of lymphocytes based on FISH studies, and was detected by array comparative genomic hybridization. To our knowledge, this is the third case of mosaicism involving deletion of the 17p11.2 region and the lowest level of mosaicism reported in a patient with Smith-Magenis syndrome (SMS). © 2013 Wiley Periodicals, Inc.

  3. Efficient Recreation of t(11;22 EWSR1-FLI1+ in Human Stem Cells Using CRISPR/Cas9

    Directory of Open Access Journals (Sweden)

    Raul Torres-Ruiz

    2017-05-01

    Full Text Available Efficient methodologies for recreating cancer-associated chromosome translocations are in high demand as tools for investigating how such events initiate cancer. The CRISPR/Cas9 system has been used to reconstruct the genetics of these complex rearrangements at native loci while maintaining the architecture and regulatory elements. However, the CRISPR system remains inefficient in human stem cells. Here, we compared three strategies aimed at enhancing the efficiency of the CRISPR-mediated t(11;22 translocation in human stem cells, including mesenchymal and induced pluripotent stem cells: (1 using end-joining DNA processing factors involved in repair mechanisms, or (2 ssODNs to guide the ligation of the double-strand break ends generated by CRISPR/Cas9; and (3 all-in-one plasmid or ribonucleoprotein complex-based approaches. We report that the generation of targeted t(11;22 is significantly increased by using a combination of ribonucleoprotein complexes and ssODNs. The CRISPR/Cas9-mediated generation of targeted t(11;22 in human stem cells opens up new avenues in modeling Ewing sarcoma.

  4. Improved molecular diagnosis of unparental disomy 15 in Prader-Willi and Angelman syndromes utilizing new short tandem repeats (STRs) mapped to chromosome 15q11.2-q12

    Energy Technology Data Exchange (ETDEWEB)

    Christian, S.L.; Kubota, T.; Ledbetter, D.H. [National Institutes of Health, Bethesda, MD (United States)] [and others

    1994-09-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation disorders caused by paternal (PWS) or maternal (AS) deficiencies of chromosome 15q11.2-q12. Three STRs (D15S11, GABRB3, and D15S113) were previously developed utilizing YACs from this region as a molecular diagnostic test for PWS/AS. Since then twenty-three new STRs have been developed by several groups which map to 15q11.2-q12. Fine mapping of some of these markers was accomplished utilizing a 3.5 Mb YAC contig of this region. Three new CEPH-Genethon markers, D15S122, D15S128, and D15S210 were mapped within the smallest PWS/AS critical regions. D15S122 mapped to YACs 230H12 and 132D4, D15S128 mapped to YACs 457B4, 11H11, and B58C7, and D15S210 mapped to 132D4 and B230E3. To improve molecular diagnosis of uniparental disomy in PWS/AS, D15S122 and D15S128 with >70% hetrozygosities were placed in a new multiplex PCR reaction with D15S11. Additionally, three CEPH-Genethon markers with high heterozygosities from distal 15q, D15S123, D15S125, and D15S131, were used establish a second multiplex to increase the total number of markers analyzed to six. Twenty-three patients with uniparental disomy 15 were compared using the original multiplex and the two new multiplexes. The results indicated that 16/23 had at least one fully informative marker with the original multiplex and 23/23 using the two new multiplexes. Using a more rigorous diagnostic criterion of two fully informative markers, only 8/23 were informative with the original multiplex and 21/23 with the two new multiplexes. These results demonstrate that these two new multiplexes composed of a total of six polymorphic STRs provide an improved diagnostic test for uniparental disomy 15.

  5. Comparative analysis of vertebrate EIF2AK2 (PKR genes and assignment of the equine gene to ECA15q24–q25 and the bovine gene to BTA11q12–q15

    Directory of Open Access Journals (Sweden)

    Zharkikh Andrey A

    2006-09-01

    Full Text Available Abstract The structures of the canine, rabbit, bovine and equine EIF2AK2 genes were determined. Each of these genes has a 5' non-coding exon as well as 15 coding exons. All of the canine, bovine and equine EIF2AK2 introns have consensus donor and acceptor splice sites. In the equine EIF2AK2 gene, a unique single nucleotide polymorphism that encoded a Tyr329Cys substitution was detected. Regulatory elements predicted in the promoter region were conserved in ungulates, primates, rodents, Afrotheria (elephant and Insectifora (shrew. Western clawed frog and fugu EIF2AK2 gene sequences were detected in the USCS Genome Browser and compared to those of other vertebrate EIF2AK2 genes. A comparison of EIF2AK2 protein domains in vertebrates indicates that the kinase catalytic domains were evolutionarily more conserved than the nucleic acid-binding motifs. Nucleotide substitution rates were uniform among the vertebrate sequences with the exception of the zebrafish and goldfish EIF2AK2 genes, which showed substitution rates about 20% higher than those of other vertebrates. FISH was used to physically assign the horse and cattle genes to chromosome locations, ECA15q24–q25 and BTA11q12–15, respectively. Comparative mapping data confirmed conservation of synteny between ungulates, humans and rodents.

  6. Assignment of the human pro-melanin-concentrating hormone gene (PMCH) to chromosome 12q23-q24 and two variant genes (PMCHL1 and PMCHL2) to chromosome 5p14 and 5q12-q13

    Energy Technology Data Exchange (ETDEWEB)

    Pedeutour, F. (Laboratoire de Genetique Moleculaire des Cancers Humans, Nice (France)); Szpirer, C. (Universite Libre de Bruxelles, Rhode-St-Genese (Belgium)); Nahon, J.L. (Institut de Pharmacologie Moleculaire et Cellulaire, Valbonne (France))

    1994-01-01

    Melanin-concentrating hormone (MCH) is a peptide that has been isolated from salmon pituitary and rat hypothalamus. In mammals, pro-MCH (PMCH) encodes two putative peptides, named NEI and NGE, in addition to MCH. Those peptides are expressed predominantly in hypothalamus and display a broad array of functions in rat brain. The authors have previously mapped the PMCH locus on human chromosome 12q and rat chromosome 7. Genomic cloning has revealed the existence of two distinct MCH genes in human: one authentic and one variant. In this report, they describe Southern blotting analysis with DNA from a panel of somatic cell hybrids and demonstrate that the authentic human MCH (hMCH) gene is located as expected on chromosome 12, while the variant form of hMCH gene is located on chromosome 5. Direct chromosomal assignment of the authentic and variant hMCH genes was obtained by using fluorescence in situ hybridization on metaphase chromosomes. A strong signal was observed in 12q23-q24 with the authentic HMCH genomic DNA probe. Surprisingly, two signals were conspicuously found in 5p14 and 5q12-q13 with different variant hMCH genomic DNA probes. These loci were designated PMCHL1 and PMCHL2. Evidence of physiological and pathological data in rodents together with locus linkage analyses in human suggests that hMCH authentic and variant genes may be involved in human brain disorders. 44 refs., 3 figs., 1 tab.

  7. Constitutional translocation t(1;17)(p36.31-p36.13;q11.2-q12.1) in a neuroblastoma patient. Establishment of somatic cell hybrids and identification of PND/A12M2 on chromosome 1 and NF1/SCYA7 on chromosome 17 as breakpoint flanking single copy markers

    NARCIS (Netherlands)

    Laureys, G.; Speleman, F.; Versteeg, R.; van der Drift, P.; Chan, A.; Leroy, J.; Francke, U.; Opdenakker, G.; van Roy, N.

    1995-01-01

    Cytogenetic and molecular studies in neuroblastoma suggest the presence of a tumor suppressor gene at the distal band p36 of human chromosome 1. We described a constitutional translocation t(1;17)(p36;q12-q21), involving the critical region 1p36, in a patient with neuroblastoma, and hypothesized

  8. Human homeobox gene HOXC13 is the partner of NUP98 in adult acute myeloid leukemia with t(11;12)(p15;q13).

    Science.gov (United States)

    La Starza, Roberta; Trubia, Maurizio; Crescenzi, Barbara; Matteucci, Caterina; Negrini, Massimo; Martelli, Massimo F; Pelicci, Pier Giuseppe; Mecucci, Cristina

    2003-04-01

    The chimeric gene NUP98/HOXC13 was detected in a patient with a de novo acute myeloid leukemia and a t(11;12)(p15;q13). Fluorescence in situ hybridization with PAC1173K1 identified the breakpoint on 11p15, indicating that the NUP98 gene was involved in the translocation. At 12q13, the breakpoint fell within BAC 578A18, selected for the homeobox C (HOXC) cluster genes. RACE-PCR showed that HOXC13 was the partner gene of NUP98. To date, HOXC13 is the eighth homeobox gene that, as the result of a reciprocal translocation, fuses with NUP98 in myeloid malignancies. Copyright 2003 Wiley-Liss, Inc.

  9. MICROBIOLOGICAL MONITORING PLAN OF VENUS GALLINA PRODUCTION ZONES: THE EXPERIENCE OF Z.T. 11 OF FERMO IN THE PERIOD 2009/2010

    Directory of Open Access Journals (Sweden)

    S. Fichera

    2011-08-01

    Full Text Available Shellfish may pose a risk in food safety, which is why the monitoring of the waters must be classified before the collection of live bivalve molluscs. These animals are filter feeders that accumulate microorganisms and chemicals present in water. Regulation (EC 854/04 provides that Member States ensure the classification of production areas of bivalve molluscs and establish a surveillance system on the areas of classification and the production facilities that allows continuous monitoring of the healthiness of these products and health quality of water. This paper reports the results of the microbiological production areas of Venus gallina pertaining to the Z.T. 11 Fermo for the years 2009-2010. From our experience, it is the important to have an adequate monitoring regional system and the involvement of professionals in this sector for an effective prevention. So it is of great importance to involve all the different workers in this field.

  10. Examination of Deposited Layers Composition on the Discharge Chamber Constructional Elements Tokamak T-11M after Two-Year Operation with Lithium Limiter

    International Nuclear Information System (INIS)

    Buzhinskij, O.; Barsuk, V.

    2006-01-01

    In this work the results of the research of internal structural elements state of the T11-M tokamak discharge chamber after two-year operation with lithium limiter are given [V.B. Lazarev, E.A. Azizov et al., Compatibility of the Lithium Capillary Limiter with Plasma in T-11M, 26 th EPS Conf. on Contr. Fusion Plasma Physics, ECA, vol. 231, pp. 845-848, 1999, V.A. Evtikhin, I.E. Lyublinski, A.V. Vertkov et al., Technology Aspects of Lithium Capillary pore Systems Application in Tokamak Device, SOFT-21 (Madrid), A-37, 2000]. The condition of molybdenic wall surface of the discharge chamber and internal steel surface of diagnostic ports has been investigated. X-ray microanalysis of deposited surface of the first wall has shown, that in deposited layer are contained in the main Mo and small amount Cu. In a composition of deposited layer on the ports surface, except the above-named elements, in a small amount is Fe. Because of the instrumental restrictions of this method of analysis, detection opportunity of lithium traces was missing. X-ray diffractometer analysis of deposited layer on the first wall surface has detected a mixture of several phases. The main phase is Li 2 CO 3 , one third from all deposited substance is Li 2 MoO 4 , there is also LiOH-HO phase. The deposited layer on diagnostic ports in the main consists of LiOH-H 2 O phase, there is also Li 2 CO 3 phase. The results of X-ray analysis of a dust probe from the B 4 C coated graphite limiter surface have not detected whatever extra phases, except a crystalline boron carbide phase. (author)

  11. Human circulating ribosomal DNA content significantly increases while circulating satellite III (1q12) content decreases under chronic occupational exposure to low-dose gamma- neutron and tritium beta-radiation.

    Science.gov (United States)

    Korzeneva, Inna B; Kostuyk, Svetlana V; Ershova, Elizaveta S; Skorodumova, Elena N; Zhuravleva, Veronika F; Pankratova, Galina V; Volkova, Irina V; Stepanova, Elena V; Porokhovnik, Lev N; Veiko, Natalia N

    A single exposure to ionizing radiation (IR) results in an elevated cell-free DNA (cfDNA) content in the blood plasma. In this case, the cfDNA concentration can be a marker of the cell death in the organism. However, a chronic exposure to a low-dose IR enhances both the endonuclease activity and titer of antibodies to DNA in blood plasma, resulting in a decrease of the total concentration of circulating cfDNA in exposed people. In this case, the total cfDNA concentration should not be considered as a marker of the cell death in an exposed body. We assumed that a pool of the cfDNA circulating in the exposed people contains DNA fragments, which are resistant to a double-strand break formation in the environment of the elevated plasma endonuclease activity, and can be accumulated in the blood plasma. In order to test this hypothesis, we studied the content of GC-rich sequences (69%GC) of the transcribed region of human ribosomal repeat (rDNA), as well as the content of AT-rich repeat (63%AT) of satellite III (1q12) in the cfDNA samples obtained from 285 individuals. We have found that a chronic exposure to gamma-neutron radiation (N=88) and tritium β-radiation (N=88) evokes an increase of the rDNA content (RrDNA index) and a decrease of the satellite III content (RsatIII index) in the circulating cfDNA as compared with the cfDNA of non-exposed people (N=109). Such index that simultaneously displays both the increase of rDNA content and decrease of satellite III content in the cfDNA (RrDNA/RsatIII) can be recommended as a marker of chronic processes in the body that involve the elevated cell death rate and/or increased blood plasma endonuclease activity. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. Zingiber officinale cDNA cloning and characterization of a mannose ...

    Indian Academy of Sciences (India)

    Unknown

    algal order Ectocarpales: The “codon impact parameter”. 699 t(11;22) translocation. Type 1 (11; 22)(q24: ... Detergent-resistant membranes in human erythrocytes and their connection to the membrane-skeleton. 317 ..... Will transgenic plants adversely affect the environment? 515. Verma Dilip. Enhanced analgesic effect of ...

  13. Is the T9, T11, or L1 the more reliable proximal level after adult lumbar or lumbosacral instrumented fusion to L5 or S1?

    Science.gov (United States)

    Kim, Yongjung J; Bridwell, Keith H; Lenke, Lawrence G; Rhim, Seungchul; Kim, Young-Woo

    2007-11-15

    A retrospective comparison study. To compare the postoperative proximal junctional change and revision prevalence as influenced by 3 different proximal levels after adult lumbar deformity instrumented fusion from the distal thoracic/upper lumbar spine (T9-L2) to L5 or S1. Few comparative studies on postoperative sagittal plane change and revision prevalence as influenced by 3 different proximal levels after adult lumbar deformity instrumented fusion from the distal thoracic/upper lumbar spine (T9-L2) to L5 or S1 have been published. Many surgeons have hypothesized that stopping proximally in the upper lumbar spine (L1 or L2) or the thoracolumbar junction (T11 or T12) would lead to a high percentage of rapid proximal degeneration, kyphosis, and decompensation because of the concentration of stress on these relatively mobile segments. Therein, many surgeons have felt it is unsafe to stop at these regions of the spine and it is better to always stop proximally at T9 or T10. A clinical and radiographic assessment in addition to revision prevalence of 125 adult lumbar deformity patients (average age 57.1 year) who underwent long (average 7.1 vertebrae) segmental posterior spinal instrumented fusion from the distal thoracic/upper lumbar spine (T9-L2) to L5 or S1 with a minimum 2-year follow-up (2-19.8 year follow-up) were compared as influenced by T9-T10 (group 1, n = 37), T11-T12 (group 2, n = 49), and L1-L2 (group 3, n = 39) proximal fusion levels. The revision prevalence and sagittal Cobb angle change at the proximal junction after surgery were compared. Three groups demonstrated nonsignificant differences in the prevalence of proximal junctional kyphosis (group 1 51% vs. group 2 55% vs. group 3 36%, P = 0.20) and revision (group 1 24% vs. group 2 24% vs. group 3 26%, P = 0.99) at the ultimate follow-up. Subsequent proximal junctional angle and sagittal vertical axis changes between the ultimate follow-up and preoperative (P = 0.10 and 0.46 respectively) were not

  14. Genomic EWS-FLI1 fusion sequences in Ewing sarcoma resemble breakpoint characteristics of immature lymphoid malignancies.

    Directory of Open Access Journals (Sweden)

    Manfred Berger

    Full Text Available Chromosomal translocations between the EWS gene and members of the ETS gene family are characteristic molecular features of the Ewing sarcoma. The most common translocation t(11;22(q24;q12 fuses the EWS gene to FLI1, and is present in 85-90% of Ewing sarcomas. In the present study, a specifically designed multiplex long-range PCR assay was applied to amplify genomic EWS-FLI1 fusion sites from as little as 100 ng template DNA. Characterization of the EWS-FLI1 fusion sites of 42 pediatric and young adult Ewing sarcoma patients and seven cell lines revealed a clustering in the 5' region of the EWS-breakpoint cluster region (BCR, in contrast to random distribution of breakpoints in the FLI1-BCR. No association of breakpoints with various recombination-inducing sequence motifs was identified. The occurrence of small deletions and duplications at the genomic junction is characteristic of involvement of the non-homologous end-joining (NHEJ repair system, similar to findings at chromosomal breakpoints in pediatric leukemia and lymphoma.

  15. PI3K/AKT signaling modulates transcriptional expression of EWS/FLI1 through specificity protein 1.

    Science.gov (United States)

    Giorgi, Chiara; Boro, Aleksandar; Rechfeld, Florian; Lopez-Garcia, Laura A; Gierisch, Maria E; Schäfer, Beat W; Niggli, Felix K

    2015-10-06

    Ewing sarcoma (ES) is the second most frequent bone cancer in childhood and is characterized by the presence of the balanced translocation t(11;22)(q24;q12) in more than 85% of cases, generating a dysregulated transcription factor EWS/FLI1. This fusion protein is an essential oncogenic component of ES development which is necessary for tumor cell maintenance and represents an attractive therapeutic target. To search for modulators of EWS/FLI1 activity we screened a library of 153 targeted compounds and identified inhibitors of the PI3K pathway to directly modulate EWS/FLI1 transcription. Surprisingly, treatment of four different ES cell lines with BEZ235 resulted in down regulation of EWS/FLI1 mRNA and protein by ~50% with subsequent modulation of target gene expression. Analysis of the EWS/FLI1 promoter region (-2239/+67) using various deletion constructs identified two 14 bp minimal elements as being important for EWS/FLI1 transcription. We identified SP1 as modulator of EWS/FLI1 gene expression and demonstrated direct binding to one of these regions in the EWS/FLI1 promoter by EMSA and ChIP experiments. These results provide the first insights on the transcriptional regulation of EWS/FLI1, an area that has not been investigated so far, and offer an additional molecular explanation for the known sensitivity of ES cell lines to PI3K inhibition.

  16. Upregulation of NKX2.2, a target of EWSR1/FLI1 fusion transcript, in primary renal Ewing sarcoma

    Directory of Open Access Journals (Sweden)

    Yoshinari Yamamoto

    2015-01-01

    Full Text Available Renal Ewing sarcoma (ES is a rare malignant tumor characterized by fusion of the EWSR1 gene with a member of the ETS family of oncogenes, arising at a specific chromosomal translocation. Diagnosis of ES can be problematic, especially from cytological or small bioptical specimens because the differential diagnoses comprising a diverse group of small round blue cell tumors (SRBCTs. We report a case of primary renal ES in a young male, which had a t(11;22 (q24;q12 chromosome translocation encoding a type2 EWSR1/FLI1 fusion transcript. The tumor cells showed diffuse cytoplasmic immunoreactivity for CD99 and diffuse nuclear immunoreactivity for NKX2.2, an important oncogenic transcriptional target of EWSR1/FLI1, not only in the histological, but also in the cytological specimens. From the results of this case, we speculate that NKX2.2, in combination with CD99, may be a useful immunocytochemical marker to distinguish renal ES from other SRBCTs of kidney.

  17. Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22t(11;22 (síndrome de Emanuel Phenotypical variability in supernumerary chromosome der(22t(11;22 syndrome (Emanuel syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2010-09-01

    Full Text Available OBJETIVO: Relatar dois pacientes com a síndrome de Emanuel (SE ou cromossomo supernumerário der(22t(11;22, secundária a translocações balanceadas familiares, apresentando fenótipos distintos. DESCRIÇÃO DE CASO: O primeiro paciente é uma menina branca de cinco anos de idade, apresentando hipotonia, atraso no desenvolvimento neuropsicomotor, movimentos estereotipados, microcefalia, ptose palpebral, orelhas proeminentes, fossetas e apêndices pré-auriculares, e imperfuração anal. As avaliações adicionais identificaram hipoplasia cerebral e estenose da válvula pulmonar. Possuía história também de laringotraqueomalácia e fenda palatina. O segundo paciente é um menino branco de seis meses de idade com hipotonia, movimentos coreoatetóticos, déficit de crescimento, microcefalia, microssomia hemifacial, fenda palatina, microtia, apêndices pré-auriculares e polegares proximalmente implantados. A ecocardiografia demonstrou estenose da válvula pulmonar, comunicação interatrial e interventricular, persistência do canal arterial e da veia cava superior esquerda. A radiografia de tórax identificou uma costela cervical. O cariótipo por bandas GTG mostrou a presença, em ambos os pacientes, de um cromossomo adicional der(22t(11;22, secundário a uma translocação balanceada materna no primeiro caso e paterna no segundo caso. COMENTÁRIOS: Apesar de a primeira paciente apresentar achados frequentes da SE, o caso adicional representa a segunda descrição da literatura com um fenótipo de espectro óculo-aurículo-vertebral (EOAV. Assim, ambos salientam a variabilidade clínica observada na SE e a importância da avaliação cariotípica em indivíduos com fenótipo de EOAV.OBEJECTIVE: To report two patients with Emanuel syndrome (ES or supernumerary chromosome der(22t(11;22, secondary to familial balanced translocations, presenting distinct phenotypes. CASES DESCRIPTION: The first patient was a five-year-old white girl presenting

  18. Microdeletion del(22(q12.2 encompassing the facial development-associated gene, MN1 (meningioma 1 in a child with Pierre-Robin sequence (including cleft palate and neurofibromatosis 2 (NF2: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Davidson Tom B

    2012-03-01

    Full Text Available Abstract Background Pierre-Robin sequence (PRS is defined by micro- and/or retrognathia, glossoptosis and cleft soft palate, either caused by deformational defect or part of a malformation syndrome. Neurofibromatosis type 2 (NF2 is an autosomal dominant syndrome caused by mutations in the NF2 gene on chromosome 22q12.2. NF2 is characterized by bilateral vestibular schwannomas, spinal cord schwannomas, meningiomas and ependymomas, and juvenile cataracts. To date, NF2 and PRS have not been described together in the same patient. Case presentation We report a female with PRS (micrognathia, cleft palate, microcephaly, ocular hypertelorism, mental retardation and bilateral hearing loss, who at age 15 was also diagnosed with severe NF2 (bilateral cerebellopontine schwannomas and multiple extramedullary/intradural spine tumors. This is the first published report of an individual with both diagnosed PRS and NF2. High resolution karyotype revealed 46, XX, del(22(q12.1q12.3, FISH confirmed a deletion encompassing NF2, and chromosomal microarray identified a 3,693 kb deletion encompassing multiple genes including NF2 and MN1 (meningioma 1. Five additional patients with craniofacial dysmorphism and deletion in chromosome 22-adjacent-to or containing NF2 were identified in PubMed and the DECIPHER clinical chromosomal database. Their shared chromosomal deletion encompassed MN1, PITPNB and TTC28. MN1, initially cloned from a patient with meningioma, is an oncogene in murine hematopoiesis and participates as a fusion gene (TEL/MN1 in human myeloid leukemias. Interestingly, Mn1-haploinsufficient mice have abnormal skull development and secondary cleft palate. Additionally, Mn1 regulates maturation and function of calvarial osteoblasts and is an upstream regulator of Tbx22, a gene associated with murine and human cleft palate. This suggests that deletion of MN1 in the six patients we describe may be causally linked to their cleft palates and/or craniofacial

  19. The B-cell-activating factor signalling pathway is associated with Helicobacter pylori independence in gastric mucosa-associated lymphoid tissue lymphoma without t(11;18)(q21;q21).

    Science.gov (United States)

    Kuo, Sung-Hsin; Tsai, Hui-Jen; Lin, Chung-Wu; Yeh, Kun-Huei; Lee, Hsiao-Wei; Wei, Ming-Feng; Shun, Chia-Tung; Wu, Ming-Shiang; Hsu, Ping-Ning; Chen, Li-Tzong; Cheng, Ann-Lii

    2017-02-01

    We previously reported that activation of the B-cell-activating factor (BAFF) pathway upregulates nuclear factor-κB (NF-κB) and induces BCL3 and BCL10 nuclear translocation in Helicobacter pylori (HP)-independent gastric diffuse large B-cell lymphoma (DLBCL) tumours with evidence of mucosa-associated lymphoid tissue (MALT). However, the significance of BAFF expression in HP independence of gastric low-grade MALT lymphomas without t(11;18)(q21;q21) remains unexplored. Sixty-four patients who underwent successful HP eradication for localized HP-positive gastric MALT lymphomas without t(11;18)(q21;q21) were studied. BAFF expression was significantly higher in the HP-independent group than in the HP-dependent group [22/26 (84.6%) versus 8/38 (21.1%); p t(11;18)(q21;q21). The biological significance of BAFF signalling in t(11;18)(q21;q21)-negative lymphoma cells was further studied in two types of lymphoma B cell: OCI-Ly3 [non-germinal centre B-cell origin DLBCL without t(11;18)(q21;q21) cell line] and MA-1 [t(14;18)(q32;q21)/IGH-MALT1-positive DLBCL cell line]. In both cell lines, we found that BAFF activated the canonical NF-κB and AKT pathways, and induced the formation of BCL10-BCL3 complexes, which translocated to the nucleus. BCL10 and BCL3 nuclear translocation and NF-κB (p65) transactivation were inhibited by either LY294002 or by silencing BCL3 or BCL10 with small interfering RNA. BAFF also activated non-canonical NF-κB pathways (p52) through tumour necrosis factor receptor-associated factor 3 degradation, NF-κB-inducing kinase accumulation, inhibitor of κB kinase (IKK) α/β phosphorylation and NF-κB p100 processing in both cell lines. Our data indicate that the autocrine BAFF signal transduction pathway contributes to HP independence in gastric MALT lymphomas without the t(11;18)(q21;q21) translocation. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. Copyright © 2016 Pathological Society of

  20. (q24: q12) translocation is common in Ewing's sarcoma

    Indian Academy of Sciences (India)

    Unknown

    2005-06-09

    Jun 9, 2005 ... was used to detect the hybridization of probe (Levy and. Herrington 1995). 2.5 Sequencing of PCR ... FLI 1 transcript; lane 9, absence of EWS-FLI 1 transcript. Figure 2. Sequence electropherogram of type 1 ... assay for detecting the fusion transcript and the types in. Ewing's sarcoma/PNET. The results ...

  1. Genetics Home Reference: 17q12 deletion syndrome

    Science.gov (United States)

    ... systems. Some females with this chromosomal change have Mayer-Rokitansky-Küster-Hauser syndrome , which is characterized by ... to intellectual disability, behavioral and psychiatric conditions, and Mayer-Rokitansky-Küster-Hauser syndrome . The loss of other ...

  2. Recurrent duplications of 17q12 associated with variable phenotypes

    DEFF Research Database (Denmark)

    Mitchell, Elyse; Douglas, Andrew; Kjaegaard, Susanne

    2015-01-01

    , tracheomalacia, cutaneous mosaicism, pectus excavatum, scoliosis, hypermobility, hypospadias, diverticulum of Kommerell, pyloric stenosis, and pseudohypoparathryoidism. The majority of duplications were inherited with some carrier parents reporting learning disabilities or microcephaly. We identified additional...

  3. (q24: q12) translocation is common in Ewing's sarcoma

    Indian Academy of Sciences (India)

    Unknown

    2005-06-09

    Jun 9, 2005 ... Ewing's sarcoma/PNET. The results demonstrated a strong concordance between molecular diagnostic methods and standard histopathologic diagnosis in all Ewing's sar- coma cases. Two cases showed discordance with a histo- pathologic diagnosis of Ewing's sarcoma but a negative. RT-PCR based ...

  4. Cutaneous hidradenocarcinoma: a clinicopathological, immunohistochemical, and molecular biologic study of 14 cases, including Her2/neu gene expression/amplification, TP53 gene mutation analysis, and t(11;19) translocation.

    Science.gov (United States)

    Kazakov, Dmitry V; Ivan, Doina; Kutzner, Heinz; Spagnolo, Dominic V; Grossmann, Petr; Vanecek, Tomas; Sima, Radek; Kacerovska, Denisa; Shelekhova, Ksenia V; Denisjuk, Natalja; Hillen, Uwe; Kuroda, Naoto; Mukensnabl, Petr; Danis, Dusan; Michal, Michal

    2009-05-01

    , in 2 cases, a minority of the neoplastic cells (10%-20%) demonstrated nuclear staining, whereas the remaining 4 cases were negative. Of 9 specimens of hidradenocarcinoma studied for TP53 mutations, 2 harbored mutations, whereas the remaining 7 specimens showed the wild-type sequence. Of 11 specimens studied for translocation t(11;19), 2 cases harbored the translocation. It is concluded that cutaneous hidradenocarcinomas show some microscopic heterogeneity and comprise both low- and high-grade lesions that cytologically are similar to their benign counterpart, the hidradenoma. Within the spectrum of low-grade lesions, there seem to exist tumors almost indistinguishable from hidradenomas but still being capable of regional or distant metastasis. Similar to hidradenomas, hidradenocarcinomas show a t(11;19) translocation, but it is a significantly rarer event. Even rarer is the amplification of the Her2/neu gene. Of note is the relatively low frequency of TP53 mutations despite a high rate of p53 protein expression at the immunohistochemical level.

  5. Assignment of human protein phosphatase 2A regulatory subunit genes B56{alpha}, B56{beta}, B56{gamma}, B56{delta}, and B56{epsilon} (PPP2R5A-PPP2R5E), highly expressed in muscle and brain, to chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.1 {r_arrow} p12

    Energy Technology Data Exchange (ETDEWEB)

    McCright, B.; Virshup, D.M.; Brothman, A.R. [Univ. of Utah School of Medicine, Salt Lake City, UT (United States)

    1996-08-15

    The activity of the major intracellular protein phosphatase, protein phosphatase 2A WPM, is determined by the nature of the associated regulatory subunit. A new family of human PP2A regulatory subunits has recently been identified. Three of these subunits, B56{beta}, B56{delta}, and B56{epsilon}, are most highly expressed in brain, while the B56{alpha} and B56{gamma} isoforms are highly expressed in cardiac and skeletal muscle. Genes PPP2R5A-PPP2R5E encoding the phosphatase regulatory proteins B56{alpha}, B56{beta}, B56{gamma}, B56{delta}, and B56{epsilon} have now been mapped by fluorescence in situ hybridization to chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2-p12, respectively. 16 refs., 1 fig.

  6. Transverse water relaxation in whole blood and erythrocytes at 3T, 7T, 9.4T, 11.7T and 16.4T; determination of intracellular hemoglobin and extracellular albumin relaxivities.

    Science.gov (United States)

    Grgac, Ksenija; Li, Wenbo; Huang, Alan; Qin, Qin; van Zijl, Peter C M

    2017-05-01

    Blood is a physiological substance with multiple water compartments, which contain water-binding proteins such as hemoglobin in erythrocytes and albumin in plasma. Knowing the water transverse (R 2 ) relaxation rates from these different blood compartments is a prerequisite for quantifying the blood oxygenation level-dependent (BOLD) effect. Here, we report the Carr-Purcell-Meiboom-Gill (CPMG) based transverse (R 2CPMG ) relaxation rates of water in bovine blood samples circulated in a perfusion system at physiological temperature in order to mimic blood perfusion in humans. R 2CPMG values of blood plasma, lysed packed erythrocytes, lysed plasma/erythrocyte mixtures, and whole blood at 3 T, 7 T, 9.4 T, 11.7 T and 16.4 T were measured as a function of hematocrit or hemoglobin concentration, oxygenation, and CPMG inter-echo spacing (τ cp ). R 2CPMG in lysed cells showed a small τ cp dependence, attributed to the water exchange rate between free and hemoglobin-bound water to be much faster than τ cp . This was contrary to the tangential dependence in whole blood, where a much slower exchange between cells and blood plasma applies. Whole blood data were fitted as a function of τ cp using a general tangential correlation time model applicable for exchange as well as diffusion contributions to R 2CPMG , and the intercept R 20blood at infinitely short τ cp was determined. The R 20blood values at different hematocrit and the R 2CPMG values of lysed erythrocyte/plasma mixtures at different hemoglobin concentration were used to determine the relaxivity of hemoglobin inside the erythrocyte (r 2Hb ) and albumin (r 2Alb ) in plasma. The r 2Hb values obtained from lysed erythrocytes and whole blood were comparable at full oxygenation. However, while r 2Hb determined from lysed cells showed a linear dependence on oxygenation, this dependence became quadratic in whole blood. This possibly suggests an additional relaxation effect inside intact cells, perhaps due to hemoglobin

  7. Scientific Opinion on the substantiation of a health claim related to an equimolar mixture of the CLA isomers c9,t11 and t10,c12 (marketed as Clarinol® and Tonalin®) and “contributes to a reduction in body fat mass” pursuant to Article 13(5) of Regulation

    DEFF Research Database (Denmark)

    Tetens, Inge

    2015-01-01

    Following an application from BASF SE and Stepan Lipid Nutrition, submitted for the authorisation of a health claim pursuant to Article 13(5) of Regulation (EC) No 1924/2006 via the Competent Authority of the Netherlands, the EFSA Panel on Dietetic Products, Nutrition and Allergies (NDA) was asked...... to deliver an opinion on the scientific substantiation of a health claim related to an equimolar mixture (marketed under the trade names Clarinol® and Tonalin®) of the two conjugated linoleic acid (CLA) isomers c9,t11 and t10,c12. The Panel considers that the food is sufficiently characterised. The claimed...

  8. Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-12-01

    Conclusion: aCGH analysis and polymorphic DNA marker analysis at amniocentesis are useful for determination of the deleted genes and the parental origin of the de novo deletion, and the acquired information is helpful for genetic counseling.

  9. Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants

    DEFF Research Database (Denmark)

    van der Valk, Ralf J P; Duijts, Liesbeth; Timpson, Nicolas J

    2014-01-01

    BACKGROUND: The fraction of exhaled nitric oxide (Feno) value is a biomarker of eosinophilic airway inflammation and is associated with childhood asthma. Identification of common genetic variants associated with childhood Feno values might help to define biological mechanisms related to specific...... asthma phenotypes. OBJECTIVE: We sought to identify the genetic variants associated with childhood Feno values and their relation with asthma. METHODS: Feno values were measured in children age 5 to 15 years. In 14 genome-wide association studies (N = 8,858), we examined the associations of approximately...... 2.5 million single nucleotide polymorphisms (SNPs) with Feno values. Subsequently, we assessed whether significant SNPs were expression quantitative trait loci in genome-wide expression data sets of lymphoblastoid cell lines (n = 1,830) and were related to asthma in a previously published genome...

  10. Pressurized wet digestion in open vessels (T11)

    International Nuclear Information System (INIS)

    Kettisch, P.; Maichin, P.; Zischka, M.; Knapp, G.

    2002-01-01

    Full text: Pressurized wet digestion in closed vessels, microwave assisted or with conventional conductive heating, is the most important sample preparation technique for digestion or leaching procedures in element analysis. In comparison to open vessel digestion closed vessel digestion methods have many advantages, but there is one disadvantage - complex and expensive vessel designs. A new technique - pressurized wet digestion in open vessels - combine the advantages of closed vessel sample digestion with the application of simple and cheap open vessels made of quartz or PFA. The vessels are placed in a high pressure Asher HPA, which is adapted with a Teflon liner and filled partly with water. The analytical results with 30 ml quartz vessels, 22 ml PFA vessels and 1.5 ml PIA auto sampler cups will be shown. In principle every dimensions of vessels can be used. The vessels are loaded with sample material (max. 1.5 g with quartz vessels, max. 0.5 g with PFA vessels and 50 mg with auto sampler cups) and digestion reagent. Afterwards the vessels are simply covered with PTFE stoppers and not sealed. The vessels are transferred into a special adapted HPA and digested at temperatures up to 270 o C. The digestion time is 90 min. and cooling down to room temperature 30 min. The analytical results of CRM's are within the certified values and no cross contamination and losses of volatile elements could be observed. (author)

  11. 'Cut in two', Part 1: Exposing the Seam in Q 12:42−46

    African Journals Online (AJOL)

    2015-06-22

    Jun 22, 2015 ... The parable of the loyal and wise slave, as I prefer to call it, appears in both Matthew (24:45–51) and Luke (12:42–46) ... slave will come on a day he does not expect and at an hour he does not know, and will cut him to pieces and give him an .... Matthew), but also modern scholars (like Jacobson 1992:197;.

  12. Isolation of anonymous, polymorphic DNA fragments from human chromosome 22q12-qter

    NARCIS (Netherlands)

    J.P. Dumanski (Jan); A.H.M. Geurts van Kessel (Ad); M. Ruttledge (Martin); A. Wladis (Andreas); N. Sugawa (Noriaki); V.P. Collins (Peter); M. Nordenskjöld

    1990-01-01

    textabstractA series of 195 random chromosome 22-specific probes, equivalent to approximately 1% of the size of this chromosome, have been isolated from a chromosome 22-specific bacteriophage lambda genomic library. These probes were mapped to four different regions of chromosome 22 on a panel of

  13. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.

    NARCIS (Netherlands)

    Stacey, S.N.; Manolescu, A.; Sulem, P.; Rafnar, T.; Gudmundsson, J.; Gudjonsson, S.A.; Masson, G.; Jakobsdottir, M.; Thorlacius, S.; Helgason, A.; Aben, K.K.H.; Strobbe, L.J.; Albers-Akkers, M.T.; Swinkels, D.W.; Henderson, B.E.; Kolonel, L.N.; Marchand, L. le; Millastre, E.; Andres, R.; Godino, J.; Garcia-Prats, M.D.; Polo, E.; Tres, A.; Mouy, M.; Saemundsdottir, J.; Backman, V.M.; Gudmundsson, L.; Kristjansson, K.; Bergthorsson, J.T.; Kostic, J.; Frigge, M.L.; Geller, F.; Gudbjartsson, D.F.; Sigurdsson, H.; Jonsdottir, T.; Hrafnkelsson, J.; Johannsson, J.; Sveinsson, T.; Myrdal, G.; Grimsson, H.N.; Jonsson, T.; Holst, S. von; Werelius, B.; Margolin, S.; Lindblom, A.; Mayordomo, J.I.; Haiman, C.A.; Kiemeney, L.A.L.M.; Johannsson, O.T.; Gulcher, J.R.; Thorsteinsdottir, U.; Kong, A.; Stefansson, K.

    2007-01-01

    Familial clustering studies indicate that breast cancer risk has a substantial genetic component. To identify new breast cancer risk variants, we genotyped approximately 300,000 SNPs in 1,600 Icelandic individuals with breast cancer and 11,563 controls using the Illumina Hap300 platform. We then

  14. SU-E-T-11: A Cloud Based CT and LINAC QA Data Management System

    International Nuclear Information System (INIS)

    Wiersma, R; Grelewicz, Z; Belcher, A; Liu, X

    2015-01-01

    Purpose: The current status quo of QA data management consists of a mixture of paper-based forms and spreadsheets for recording the results of daily, monthly, and yearly QA tests for both CT scanners and LINACs. Unfortunately, such systems suffer from a host of problems as, (1) records can be easily lost or destroyed, (2) data is difficult to access — one must physically hunt down records, (3) poor or no means of historical data analysis, and (4) no remote monitoring of machine performance off-site. To address these issues, a cloud based QA data management system was developed and implemented. Methods: A responsive tablet interface that optimizes clinic workflow with an easy-to-navigate interface accessible from any web browser was implemented in HTML/javascript/CSS to allow user mobility when entering QA data. Automated image QA was performed using a phantom QA kit developed in Python that is applicable to any phantom and is currently being used with the Gammex ACR, Las Vegas, Leeds, and Catphan phantoms for performing automated CT, MV, kV, and CBCT QAs, respectively. A Python based resource management system was used to distribute and manage intensive CPU tasks such as QA phantom image analysis or LaTeX-to-PDF QA report generation to independent process threads or different servers such that website performance is not affected. Results: To date the cloud QA system has performed approximately 185 QA procedures. Approximately 200 QA parameters are being actively tracked by the system on a monthly basis. Electronic access to historical QA parameter information was successful in proactively identifying a Linac CBCT scanner’s performance degradation. Conclusion: A fully comprehensive cloud based QA data management system was successfully implemented for the first time. Potential machine performance issues were proactively identified that would have been otherwise missed by a paper or spreadsheet based QA system

  15. SU-F-T-11: Scintillator Based Quality Assurance Device for HDR Brachytherapy

    Energy Technology Data Exchange (ETDEWEB)

    Jozsef, G [New York University Medical Center, New York, NY (United States)

    2016-06-15

    Purpose: To build a test device for HDR afterloaders capable of checking source positions, times at positions and estimate the activity of the source. Methods: A catheter is taped on a plastic scintillation sheet. When a source travels through the catheter, the scintillator sheet lights up around the source. The sheet is monitored with a video camera, and records the movement of the light spot. The center of the spot on each image on the video provides the source location, and the time stamps of the images can provide the dwell time the source spend in each location. Finally, the brightness of the light spot is related to the activity of the source. A code was developed for noise removal, calibrate the scale of the image to centimeters, eliminate the distortion caused by the oblique view angle, identifying the boundaries of the light spot, transforming the image into binary and detect and calculate the source motion, positions and times. The images are much less noisy if the camera is shielded. That requires that the light spot is monitored in a mirror, rather than directly. The whole assembly is covered from external light and has a size of approximately 17×35×25cm (H×L×W) Results: A cheap camera in BW mode proved to be sufficient with a plastic scintillator sheet. The best images were resulted by a 3mm thick sheet with ZnS:Ag surface coating. The shielding of the camera decreased the noise, but could not eliminate it. A test run even in noisy condition resulted in approximately 1 mm and 1 sec difference from the planned positions and dwell times. Activity tests are in progress. Conclusion: The proposed method is feasible. It might simplify the monthly QA process of HDR Brachytherapy units.

  16. Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

    Czech Academy of Sciences Publication Activity Database

    Winkelmann, J.; Czamara, D.; Schormair, B.; Knauf, F.; Schulte, E. C.; Vodička, Pavel

    2011-01-01

    Roč. 7, č. 7 (2011), e1002171 ISSN 1553-7390 R&D Projects: GA MZd NR8563 Grant - others:GA MŠk(CZ) MSM0021620849; GA MŠk(CZ) MSM0021620816 Institutional research plan: CEZ:AV0Z50390512 Keywords : TOX3 * transcription * common genetic-variants Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 8.694, year: 2011

  17. A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy.

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Egger, J.I.; Feenstra, I.; Leeuw, N. de

    2012-01-01

    A female patient, nine years of age, is reported with a history characterized by delay of psychomotor and speech development, mild to moderate intellectual disability and persistent sleep disturbances since the age of two. The patient showed facial dysmorphisms, a pectus excavatum and a sandal gap.

  18. A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Egger, J.I.M.; Feenstra, I.; Leeuw, N. de

    2012-01-01

    A female patient, nine years of age, is reported with a history characterized by delay of psychomotor and speech development, mild to moderate intellectual disability and persistent sleep disturbances since the age of two. The patient showed facial dysmorphisms, a pectus excavatum and a sandal gap.

  19. A de novo microdeletion in chromosome 8q12.3q13.2: Association with mild intellectual disability and epilepsy?

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Egger, J.I.M.; Feenstra, I.; Leeuw, N. de

    2012-01-01

    Introduction: Whole genome microarray techniques are a primary tool for the etiological assessment in patients with intellectual disabilities. As a result, several novel microdeletions have been demonstrated that could be causatively related to the disorder. Interpretation of array results is

  20. Localization of the gene for sclerosteosis to the van Buchem Disease-gene region on chromosome 17q12-q21

    NARCIS (Netherlands)

    Balemans, W; Van Den Ende, J; Paes-Alves, AF; Dikkers, FG; Willems, PJ; Vanhoenacker, F; de Almeida-Melo, N; Alves, CF; Stratakis, CA; Hill, SC; Van Hul, W

    Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are

  1. A Newly Recognized 13q12.3 Microdeletion Syndrome Characterized by Intellectual Disability, Microcephaly, and Eczema/Atopic Dermatitis Encompassing the HMGB1 and KATNAL1 Genes

    DEFF Research Database (Denmark)

    Bartholdi, D.; Stray-Pedersen, A.; Azzarello-Burri, S.

    2014-01-01

    microcephaly, and eczema/atopic dermatitis as the predominant symptoms. In addition, they had pronounced feeding difficulties in early infancy. They displayed similar facial features such as malar flattening, a prominent nose with underdeveloped alae nasi, a smooth philtrum, and a thin vermillion of the upper...

  2. Neuropsychological endophenotype approach to genome-wide linkage analysis identifies susceptibility loci for ADHD on 2q21.1 and 13q12.11.

    NARCIS (Netherlands)

    Lambregts-Rommelse, N.N.J.; Arias Vasquez, A.; Altink, M.E.; Buschgens, C.J.M.; Fliers, E.A.; Asherson, P.; Faraone, S.V.; Buitelaar, J.K.; Sergeant, J.A.; Oosterlaan, J.; Franke, B.

    2008-01-01

    ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were

  3. Neuropsychological endophenotype approach to genome-wide linkage analysis identifies susceptibility loci for ADHD on 2q21.1 and 13q12.11

    NARCIS (Netherlands)

    Rommelse, N.N.J.; Vasquez, A.A.; Altink, M.E.; Buschgens, C.; Fliers, E.; Asherson, P.; Faraone, S.V.; Buitelaar, J.K.; Sergeant, J.A.; Oosterlaan, J.; Franke, B.

    2008-01-01

    ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were

  4. Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13

    NARCIS (Netherlands)

    Deen, P M; Weghuis, D O; Sinke, R J; Geurts van Kessel, A; Wieringa, B; van Os, C H

    1994-01-01

    The chromosomal localization of the gene encoding Aquaporin 2 (previously called WCH-CD), which acts as a water channel in the collecting tubules of the kidney, was determined. Southern blot hybridizations of chromosomal DNA from a panel of 25 different human-rodent hybrid cell lines assigned AQP2

  5. 2017-10-30T11:49:55Z https://www.ajol.info/index.php/index/oai oai ...

    African Journals Online (AJOL)

    modernity‟ was used and interpreted on a day-to-day level during the decolonisation era. The sources used for the paper include local Nigerian and Ghanaian newspapers; oral history interviews with consumers in Ghana and Nigeria; as well ...

  6. A Biphasic Pleural Tumor with Features of an Epithelioid and Small Cell Mesothelioma: Morphologic and Molecular Findings

    Directory of Open Access Journals (Sweden)

    Sarah Hackman

    2016-01-01

    Full Text Available Malignant mesotheliomas are generally classified into epithelioid, sarcomatoid, desmoplastic, and biphasic types with rare reports of a small cell form. These small cell variants display some morphologic overlap with desmoplastic small round cell tumors (DSRCTs which generally occur within the abdominal cavity of young males and are defined by a characteristic t(11;22(p13;q12 translocation. However, there are rare reports of DSRCTs lacking this translocation. We present a 78-year-old man with a pleura-based biphasic neoplasm with features of both epithelioid mesothelioma and a small cell blastema-like neoplasm. The epithelioid portion showed IHC reactivity for pan cytokeratin, CK5/6, D2-40, and calretinin and the small cell portion marked with CD99, pan cytokeratin, WT1, FLI1, S100, CD200, MyoD1, and CD15. Fluorescence in situ hybridization testing for the t(11;22(p13;q12 translocation disclosed loss of the EWSR1 gene in 94% of tumor cell nuclei, but there was no evidence of the classic translocation. Array based-comparative genomic hybridization (a-CGH confirmed the tumor had numerous chromosome copy number losses, including 11p15.5-p11.12 and 22q12.1-q13.33, with loss of the EWSR1 and WT1 gene regions. Herein, we report novel complex CGH findings in a biphasic tumor and review the molecular genetic alterations in both mesothelioma and DSRCTs.

  7. A rare prenatal case with two de novo inversions and a translocation: 48, XX,t(9;12)(q32;p24.3), inv(11)(p15.1q25), inv(13)(q12.q22)

    Energy Technology Data Exchange (ETDEWEB)

    Harrison, B.; Balaban, L.; Eldred, C. [Albany Medical College, Albany, NY (United States)] [and others

    1994-09-01

    Ultrasound examination of a para 1, gravida 2, 26 y.o. showed severe hydrocephalus and polyhydramnios. Amniocentesis was performed at 27 weeks. High resolution chromosome analysis revealed a karyotype with a 9;12 translocation, a pericentric inversion of chromosome 11, and a paracentric inversion of chromosome 13. Parental chromosome studies were normal. The mother was not on medication prior to her pregnancy and there was no known exposure to radiation. Delivery was at 34 weeks gestation. The phenotype consisted of micrognathia, low set ears, hypertelorism, and hydrodcephaly. Review of the literature revealed a single report with multiple de novo aberrations consisting of a 6;14 translocation and a deleted 7. This was diagnosed in the child of a woman with systemic lupus erythematous treated with azathioprine. These types of abnormalities have been known to be induced by chemical and radiation exposure. High resolution banding combined with molecular studies presently improve our ability to detect subtle structural aberrations.

  8. Impaired executive function, weak motor skills, and a rare form of epilepsy in an intellectually disabled girl with a 8q12.3q13.2 microdeletion

    NARCIS (Netherlands)

    Egger, J.I.M.; Verhoeven, W.M.A.; Feenstra, I.; Walvoort, S.J.W.; Leeuw, N. de

    2013-01-01

    Objective: Whole genome microarray techniques are the primary tool for the etiological assessment in intellectually disabled patients and have led to the discovery of several causative novel microdeletions. Participants and Methods: Extensive neuropsychological, neurological, psychiatric and genetic

  9. 2017-10-30T11:01:52Z https://www.ajol.info/index.php/all/oai oai:ojs ...

    African Journals Online (AJOL)

    ... Ahmadu Bello University Teaching Hospital, Zaria, Nigeria Atrial fibrillation, treatment Quite a number of dramatic interventional advances in the treatment of cardiac arrhythmias such as catheter ablation and implantable cardiac defibrillators for serious ventricular arrhythmias have held the limelight over the last few years.

  10. 2018-03-30T11:19:08Z https://www.ajol.info/index.php/all/oai oai:ojs ...

    African Journals Online (AJOL)

    Lymphatic filariasis is a tropical disease caused by filarial parasites Wuchereria bancrofti and Brugia malayi that are transmitted to human beings by mosquitoes. It is evident from previous researches that GP 15 / 400 polyprotein is an important protein found in Wuchereria bancrofti which can be used as good target for ...

  11. Comparison of Injury Incidence Between the T-11 Advanced Tactical Parachute System and the T-10D Parachute, Fort Bragg, North Carolina, June 2010-November 2013

    Science.gov (United States)

    2014-02-01

    rank, entanglements, jump order). 5 BACKGROUND 5.1 Early History of Military Airborne Operations Benjamin Franklin may have been the first...the Army, Technical Report No. 40-5, 2007. 3. Hodge , J.G. An enhanced approach to distinguishing public health practice and human subjects research

  12. 2018-02-16T11:09:36Z https://www.ajol.info/index.php/all/oai oai:ojs ...

    African Journals Online (AJOL)

    The result showed that the ginger-blended pineapple drink `Pinegy' was richer than `Pinenaco' in nutrient content. Also, the result of the sensory tests showed that in overall acceptability, sample DD was most acceptable followed by the control (sampled DA), although the whole samples were acceptable in various degrees.

  13. A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation

    NARCIS (Netherlands)

    van den Boogaard, M. J.; de Pater, J.; Hennekam, R. C.

    1991-01-01

    A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The pertinent literature on both partial trisomy 9 and

  14. CASE REPORT Radiographic diagnosis of a rare case of ...

    African Journals Online (AJOL)

    ODDD is a rare autosomal dominant congenital disorder mainly affecting the development of the face, eyes, skeletal system, heart and dentition. ODDD has been mapped to chromosome 6q22-q24 and germline mutations have been identified in the connexin 43 gene, GJA1. To date, over 70 reports in the literature describe ...

  15. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

    DEFF Research Database (Denmark)

    Becker, Kerstin; Di Donato, Nataliya; Holder-Espinasse, Muriel

    2012-01-01

    Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion. 6q14 deletions have been associated with intellectual disability and a distinct pattern of minor anomalies, including upslanted palpebral fissures with epicanthal folds, a short nose...... for intellectual disability might be FILIP1, MYO6, HTR1B, and SNX14....

  16. Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18(q10;q10del(18(q11.1q12.1del(18(q22.1q22.3 presenting as apparent isochromosome 18q in a fetus with holoprosencephaly

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2011-06-01

    Conclusion: Concomitant monosomy 18p and trisomy 18q can be associated with holoprosencephaly and abnormal maternal serum screening results. Array-comparative genomic hybridization, fluorescence in situ hybridization, and quantitative fluorescent polymerase chain reaction are useful in genetic counseling of prenatally detected isochromosomes by providing information on the origin and genetic components of the isochromosome.

  17. Disease: H01238 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H01238 Phelan-McDermid syndrome; Chromosome 22q13.3 deletion syndrome Phelan-McDer...mid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe...t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. ... JOURNAL ... Am J Hum Genet 69:261-8 (2001) DOI:10.1086/321293

  18. L’île de Bilāq dans le Kitāb Nuzhat al-Muštāq d’al-Idrīsī (XIIe siècle. Généalogie d’une confusion The island of Bilāq in al-Idrīsī’s Kitāb Nuzhat al-Muštāq (12th cent.. Genealogy of a confusion

    Directory of Open Access Journals (Sweden)

    Robin Seignobos

    2011-02-01

    Full Text Available La description de l’île de Bilāq chez le géographe al-Idrīsī, au xiie siècle, tranche nettement avec les récits de ses prédécesseurs et ne correspond que très partiellement à l’îlot de Philae auquel Bilāq est d’ordinaire identifiée. Alors qu’elle est normalement située légèrement en amont de la première cataracte, Bilāq devient chez Idrīsī une immense île localisée bien en amont de la Vallée, en plein pays nubien, au confluent du Nil et d’un fleuve provenant d’Éthiopie. Les commentateurs modernes s’accordent à reconnaître qu’il y a là un amalgame probable avec la région de l’interfluve Nil-Atbara, sans parvenir pour autant à en comprendre les raisons. Cet article s’efforce précisément d’examiner les sources et les méthodes mises en œuvre par le géographe de Sicile afin d’éclairer la généalogie de cette confusion. Celle-ci repose en dernier lieu sur la difficulté à adapter des informations hétérogènes, dont une partie au moins est issue d’entretiens oraux avec des voyageurs, au cadre ptoléméen dans lequel Idrīsī entend les fondre. L’île de Bilaq se superpose alors au souvenir rémanent de l’île de Méroé, figure majeure de la géographie ptoléméenne du Haut Nil.The 12th-century description of Bilāq Island by al-Idrisi contrasts with his predecessors’ accounts and only partly fits the small island of Philae with which Bilāq was usually identified. Bilāq, normally placed a little above the first cataract, became, for al-Idrīsī, a big island located much farther upstream in the land of Nubia, at a place where a river coming from Ethiopia flowed into the Nile. Modern commentators agree that this description probably came out of a confusion with the Nile-Atbara area but are unable to explain the reasons for this. This article inquires into al-Idrisi’s description, into both the sources and methods used by this geographer. It intends to shed light on the origins of this confusion, which ultimately has to do with the difficulty that al-Idrīsī had adapting heterogeneous sources of information (including interviews with travelers to his Ptolemaic conception. The island of Bilāq thus came to be mixed up with lingering recollections of the island of Meroe, a major figure in the Ptolemaic geography of the upper Nile Valley.

  19. Fine-needle aspiration in desmoplastic small round cell tumor: a report of 10 new tumors in 8 patients with clinicopathological and molecular correlations with review of the literature.

    Science.gov (United States)

    Klijanienko, Jerzy; Colin, Pierre; Couturier, Jérôme; Lagacé, Réal; Fréneaux, Paul; Pierron, Gaëlle; Laé, Marick; Klijanienko, Alice; Brisse, Hervé; Orbach, Daniel; Theocharis, Stamatios

    2014-05-01

    Desmoplastic small round cell tumor (DSRCT) is a rare round cell sarcoma entity characterized by a specific t(11;22)(p13;q12) translocation, usually intra-abdominal localization and an aggressive clinical outcome. To date, only 35 DSRCT cases diagnosed by fine-needle aspiration have been described. This study reports the cytological diagnosis of DSRCT. Ten tumors from 8 patients were sampled for diagnosis and analyzed to search the characteristic translocation using fluorescence in situ hybridization or reverse transcription polymerase chain reaction methods. Smears were always hypercellular and consisted of nonspecific round cell sarcoma. Nuclei were polymorphic round, kidney-, or heart-shaped. Nuclear molding was usually present. Paranuclear cytoplasmic densities were obvious and noted in 7 cases. Cytonuclear atypia, mitotic figures, numerous crushed nuclei, and apoptosis were frequently seen. Purple-stained stroma was present in 8 cases (ranging from few connective tissue fragments to large hyalinized deposits). Molecular studies based on cytological aspirates were performed in 8 patients. The presence of the fusion gene EWSR1-WT 1 transcript was identified in all, which confirmed the diagnosis of DSRCT. Smears showing poorly differentiated round cells associated with cytoplasmic densities and connective stoma, in a specific clinical context, young adult age, intra-abdominal localization, suggestive immunocytochemical profile, and a unique cytogenetic abnormality are highly specific and allow an accurate diagnosis of DSRCT. © 2014 American Cancer Society.

  20. Desmoplastic Small Round Cell Tumor of Stomach

    Directory of Open Access Journals (Sweden)

    Ahmed Abu-Zaid

    2013-01-01

    Full Text Available Desmoplastic small round cell tumor (DSRCT is an extremely uncommon, highly aggressive, and malignant mesenchymal neoplasm of undetermined histogenesis. Less than 200 case reports have been documented in literature so far. Herein, we report a 26-year-old otherwise healthy female patient who presented with a 1-month history of epigastric pain. On physical examination, a palpable, slightly mobile, and tender epigastric mass was detected. All laboratory tests were normal. A chest, abdominal, and pelvic contrast-enhanced computed tomography (CT scans showed a 3.8 × 7.2 × 8.7 cm ill-defined mass, involving gastric fundus and extending into gastric cardia and lower gastroesophageal junction. It was associated with multiple enlarged gastrohepatic lymph nodes; the largest measured 1.2 cm. There was no evidence of ascites or retroperitoneal or mesenteric lymphatic metastases. Patient underwent total gastrectomy with D2 lymphadenectomy, splenectomy, and antecolic Roux-en-Y esophagojejunal anastomosis. Histopathological examination revealed coexpression of mesenchymal, epithelial, and neural markers. The characteristic chromosomal translocation (t(11; 22(p13; q12 was demonstrated on fluorescence in situ hybridization (FISH technique. Diagnosis of DSRCT of stomach was confirmed. Patient received no postoperative radiotherapy or chemotherapy. A postoperative 3-month followup failed to show any recurrence. In addition, a literature review on DSRCT is included.

  1. Novel recurrent chromosomal aberrations detected in clonal plasma cells of light chain amyloidosis patients show potential adverse prognostic effect: first results from a genome-wide copy number array analysis.

    Science.gov (United States)

    Granzow, Martin; Hegenbart, Ute; Hinderhofer, Katrin; Hose, Dirk; Seckinger, Anja; Bochtler, Tilmann; Hemminki, Kari; Goldschmidt, Hartmut; Schönland, Stefan O; Jauch, Anna

    2017-07-01

    Immunoglobulin light chain (AL) amyloidosis is a rare plasma cell dyscrasia characterized by the deposition of abnormal amyloid fibrils in multiple organs, thus impairing their function. In the largest cohort studied up to now of 118 CD138-purified plasma cell samples from previously untreated immunoglobulin light chain amyloidosis patients, we assessed in parallel copy number alterations using high-density copy number arrays and interphase fluorescence in situ hybridization (iFISH). We used fluorescence in situ hybridization probes for the IgH translocations t(11;14), t(4;14), and t(14;16) or any other IgH rearrangement as well as numerical aberrations of the chromosome loci 1q21, 8p21, 5p15/5q35, 11q22.3 or 11q23, 13q14, 15q22, 17p13, and 19q13. Recurrent gains included chromosomes 1q (36%), 9 (24%), 11q (24%), as well as 19 (15%). Recurrent losses affected chromosome 13 (29% monosomy) and partial losses of 14q (19%), 16q (14%) and 13q (12%), respectively. In 88% of patients with translocation t(11;14), the hallmark chromosomal aberration in AL amyloidosis, a concomitant gain of 11q22.3/11q23 detected by iFISH was part of the unbalanced translocation der(14)t(11;14)(q13;q32) with the breakpoint in the CCND1/MYEOV gene region. Partial loss of chromosome regions 14q and 16q were significantly associated to gain 1q. Gain 1q21 detected by iFISH almost always resulted from a gain of the long arm of chromosome 1 and not from trisomy 1, whereas deletions on chromosome 1p were rarely found. Overall and event-free survival analysis found a potential adverse prognostic effect of concomitant gain 1q and deletion 14q as well as of deletion 1p. In conclusion, in the first whole genome report of clonal plasma cells in AL amyloidosis, novel aberrations and hitherto unknown potential adverse prognostic effects were uncovered. Copyright© 2017 Ferrata Storti Foundation.

  2. Amplification of HER2 is a marker for global genomic instability

    International Nuclear Information System (INIS)

    Ellsworth, Rachel E; Ellsworth, Darrell L; Patney, Heather L; Deyarmin, Brenda; Love, Brad; Hooke, Jeffrey A; Shriver, Craig D

    2008-01-01

    Genomic alterations of the proto-oncogene c-erbB-2 (HER-2/neu) are associated with aggressive behavior and poor prognosis in patients with breast cancer. The variable clinical outcomes seen in patients with similar HER2 status, given similar treatments, suggests that the effects of amplification of HER2 can be influenced by other genetic changes. To assess the broader genomic implications of structural changes at the HER2 locus, we investigated relationships between genomic instability and HER2 status in patients with invasive breast cancer. HER2 status was determined using the PathVysion ® assay. DNA was extracted after laser microdissection from the 181 paraffin-embedded HER2 amplified (n = 39) or HER2 negative (n = 142) tumor specimens with sufficient tumor available to perform molecular analysis. Allelic imbalance (AI) was assessed using a panel of microsatellite markers representing 26 chromosomal regions commonly altered in breast cancer. Student t-tests and partial correlations were used to investigate relationships between genomic instability and HER2 status. The frequency of AI was significantly higher (P < 0.005) in HER2 amplified (27%) compared to HER2 negative tumors (19%). Samples with HER2 amplification showed significantly higher levels of AI (P < 0.05) at chromosomes 11q23, 16q22-q24 and 18q21. Partial correlations including ER status and tumor grade supported associations between HER2 status and alterations at 11q13.1, 16q22-q24 and 18q21. The poor prognosis associated with HER2 amplification may be attributed to global genomic instability as cells with high frequencies of chromosomal alterations have been associated with increased cellular proliferation and aggressive behavior. In addition, high levels of DNA damage may render tumor cells refractory to treatment. In addition, specific alterations at chromosomes 11q13, 16q22-q24, and 18q21, all of which have been associated with aggressive tumor behavior, may serve as genetic modifiers to HER2

  3. Screening for NUP98 rearrangements in hematopoietic malignancies by fluorescence in situ hybridization.

    Science.gov (United States)

    Nebral, Karin; König, Margit; Schmidt, Helmut H; Lutz, Dieter; Sperr, Wolfgang R; Kalwak, Krzysztof; Brugger, Stefan; Dworzak, Michael N; Haas, Oskar A; Strehl, Sabine

    2005-06-01

    The aim of this study was to determine the incidence of rearrangements of NUP98 (the gene coding for nucleoporin 98kDa protein) in childhood acute myeloid leukemia (AML) and selected patients with 11p13-15 rearrangements. This aim was achieved using a fluorescence in situ hybridization (FISH) assay that allows the detection of NUP98 aberrations independently of the partner gene involved. Screening of 59 consecutive patients enrolled in the Austrian AML-BFM93 clinical trial was performed by dual-color FISH. In addition, 14 selected cases with various hematologic malignancies and 11p13-15 aberrations were analyzed. NUP98-positive cases were further investigated by fusion gene-specific FISH and reverse transcription polymerase chain reaction assays. Among the 59 AML patients, one NUP98-NSD1 positive case (1.7%) was detected. Among the 14 selected patients, five new NUP98 positive cases were determined. Two cases showed an inv(11)(p15q22)/NUP98-DDX10 fusion, one each displayed a t(5;11)(q35;p15)/NUP98-NSD1 and a t(11;20)(p15;q12)/NUP98-TOP1 fusion, and one case with a putative new fusion partner gene at 3p24 was identified. The observed frequency of 1.7% confirmed the low incidence of NUP98 rearrangements in childhood AML. The low occurrence of NUP98 rearrangements in selected samples with 11p13-15 alterations suggests the existence of variable chromosomal breakpoints and affected genes in this region. The identification of a new NUP98 fusion partner region confirms the evident promiscuity of NUP98. Thus, analysis of NUP98 aberrations by FISH seems to be the method of choice for determining the presence of these genetic lesions in unselected patients, and to confirm the involvement of NUP98 in cases with 11p15 aberrations.

  4. Desmoplastic small round cell tumor: a clinicopathologic, immunohistochemical, and molecular study of 32 tumors.

    Science.gov (United States)

    Lae, Marick E; Roche, Patrick C; Jin, Long; Lloyd, Ricardo V; Nascimento, Antonio G

    2002-07-01

    Desmoplastic small round cell tumor is a rare, aggressive neoplasm that mainly affects young male patients and is characterized by a reciprocal translocation t(11;22)(p13;q12) associated with the EWS-WT1 gene fusion transcript. Clinical, histopathologic, immunohistochemical, and molecular genetics features were reviewed for 32 tumors. There were 29 male and three female patients, with ages from 6 to 54 years (mean, 25 years). The main clinical signs and symptoms included abdominal pain (eight patients), weight loss (five patients), and presence of umbilical hernia (four patients). Two tumors primarily involved the ethmoid sinus and the soft tissues of the scalp; the other tumors (mean size, 10 cm) involved the abdominal cavity (88%). One patient presented initially with an axillary lymph node metastasis. Generally, all tumors showed the typical histologic findings of variably sized clusters of small, round, or spindled cells lying in a desmoplastic stroma. The neoplastic cells in formalin-fixed, paraffin-embedded tissue sections were positive for desmin (dot pattern) (81% of the cases), WT1 (91%), keratin (87%), neuron-specific enolase (84%), CD99 (23%), and actin (3%). The EWS-WT1 gene fusion transcript was detected in 29 of 30 tumors. One tumor with typical clinicopathologic and immunohistochemical features did not show the gene fusion. Follow-up for 27 patients showed that 19 patients (70%) died of uncontrolled, local, or widespread metastatic disease 3-46 months (mean, 20 months) after diagnosis, and eight patients were alive with known evidence of disease. Occasionally, desmoplastic small round cell tumor lacks the classic clinical, histologic, and immunohistochemical features. This study emphasizes the utility of analysis of the EWS-WT1 gene fusion transcript, which was performed on paraffin-embedded tissues, to confirm the diagnosis.

  5. 5.9 Mb microdeletion in chromosome band 17q22-q23.2 associated with tracheo-esophageal fistula and conductive hearing loss.

    Science.gov (United States)

    Puusepp, Helen; Zilina, Olga; Teek, Rita; Männik, Katrin; Parkel, Sven; Kruustük, Katrin; Kuuse, Kati; Kurg, Ants; Ounap, Katrin

    2009-01-01

    Only eight cases involving deletions of chromosome 17 in the region q22-q24 have been reported previously. We describe an additional case, a 7-year-old boy with profound mental retardation, severe microcephaly, facial dysmorphism, symphalangism, contractures of large joints, hyperopia, strabismus, bilateral conductive hearing loss, genital abnormality, psoriasis vulgaris and tracheo-esophageal fistula. Analysis with whole-genome SNP genotyping assay detected a 5.9 Mb deletion in chromosome band 17q22-q23.2 with breakpoints between 48,200,000-48,300,000 bp and 54,200,000-54,300,000 bp (according to NCBI 36). The aberration was confirmed by real-time quantitative PCR analysis. Haploinsufficiency of NOG gene has been implicated in the development of conductive hearing loss, skeletal anomalies including symphalangism, contractures of joints, and hyperopia in our patient and may also contribute to the development of tracheo-esophageal fistula and/or esophageal atresia.

  6. [Changes of teaching in the interdisciplinary subject "rehabilitation, physical medicine, naturopathic treatment" in the German medical faculties 2004 to 2006/07].

    Science.gov (United States)

    Kusak, G; Gülich, M; Lay, W; Morfeld, M; Schwarzkopf, S R; Mau, W

    2008-02-01

    Rehabilitation, Physical Medicine, Naturopathic Treatment (Querschnittsbereich Q-12) was introduced as a compulsory interdisciplinary subject in the revised Federal Medical Licensing Regulations (Approbationsordnung für Arzte) in October 2003. This offered the opportunity to increase the students' interest in rehabilitation-related issues and to integrate current evidence of rehabilitation research. The implementation of the Q-12 in the German medical faculties was investigated by yearly questionnaires during a three-year-period. In 2004, 2005, and 2006/07 anonymous postal questionnaires concerning the teaching in Q-12 were sent to the 36 medical faculties in Germany. Non-responders were reminded at least once by a repeat postal questionnaire. The response rates were 67% in 2004, 72% in 2005, 50% in 2006/07, respectively. Of the 36 faculties 34 responded at least once. Ten faculties responded to all questionnaires. In a considerable number of faculties, Q-12 is being coordinated by university institutions which are not denominated as one of the subjects designated in the Q-12 title. Major differences regarding the implementation of Q-12 were found between the faculties. Further development of Q-12 faces several limitations of resources. Almost all faculties provide curricula for teaching Q 12, some of which are still incomplete. During all three examinations lecturer-centered teaching methods (lectures, seminars, other presentations) were used most frequently. POL-cases and other structured patient oriented teaching were also reported less frequently. E-learning was very rarely offered to the students. Musculoskeletal and neurological disorders were the most frequent specific indications for practice-related integration of Q-12 issues. Compulsory election subjects (Wahlpflichtfächer) related to Q-12 issues before and during the final year of the medical students, are not being offered by all faculties. The vast majority of the faculties advocate an exchange of

  7. [Effects of ammonium sulfate on the metabolism and K-feldspar weathering of two potassium-bearing mineral-solubilizing bacteria].

    Science.gov (United States)

    Huang, Zhi; Ma, Guangyou; He, Linyan; Sheng, Xiafang

    2012-02-04

    To determine the best conditions for Bacillus globisporus Q12 and Rhizobium sp. Q32 to produce organic acids and extracellular polysaccharides, respectively, and further elucidate the weathering mechanism of the two potassium-bearing mineral-solubilizing bacteria. Different contents (0-1.2 g/L) of (NH4)2SO4 were added to media to analyze the ability of the strains to produce organic acids and extracellular polysaccharides, and assess the ability of Q12, Q32 and their mixture to dissolve potassium feldspar. Scanning electron microscope (SEM) was also used to observe the distribution of the bacterial cells on the surfaces of the feldspar and the mineral weathering. Results show that Bacillus globisporus Q12 produced more organic acids, when the contents of (NH4)2SO4 were 0.6 g/L; Rhizobium sp. Q32 produced more extracellular polysaccharides, when there was no (NH4)2SO4 in the media; and the mixture of two strains produced more organic acids and extracellular polysaccharides, when the contents of (NH4)2SO4 were 0.3 g/L. Mineral dissolution experiment showed that Bacillus globisporus Q12, Rhizobium sp. Q32 and the mixture (Q12 + Q32) significantly dissolved the feldspar and released the elements from the mineral, of which the mixture of Q12 and Q32 had the best weathering ability than strain Q12 or Q32; SEM also indicated that the mixture of Q12 and Q32 had more ability to weather feldspar than each tested strain. The contents of (NH4)2SO4 in the media could affect the growth and metabolites of the strains Q12 and Q32 and the mineral bioweathering, the mixture of strains Q12 and Q32 had the more potential of feldspar weathering through the combined action of organic acids and extracellular polysaccharides produced by strains Q12 and Q32.

  8. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8(::p12→q13.1:: associated with phenotypic abnormalities

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2016-12-01

    Conclusion: Mosaic sSMC(8 derived from r(8(::p12→q13.1:: can present phenotypic abnormalities. Chromosome 8q12 duplication syndrome should be included in differential diagnosis when an sSMC(8 contains 8q12.2 and CHD7.

  9. Tretinoin and Arsenic Trioxide in Treating Patients With Untreated Acute Promyelocytic Leukemia

    Science.gov (United States)

    2017-07-18

    Adult Acute Promyelocytic Leukemia With t(15;17)(q22;q12); PML-RARA; Childhood Acute Promyelocytic Leukemia With t(15;17)(q22;q12); PML-RARA; Untreated Adult Acute Myeloid Leukemia; Untreated Childhood Myeloid Neoplasm

  10. The oncogenic properties of EWS/WT1 of desmoplastic small round cell tumors are unmasked by loss of p53 in murine embryonic fibroblasts

    International Nuclear Information System (INIS)

    Bandopadhayay, Pratiti; Thomas, David M; Algar, Elizabeth; Ekert, Paul G; Jabbour, Anissa M; Riffkin, Christopher; Salmanidis, Marika; Gordon, Lavinia; Popovski, Dean; Rigby, Lin; Ashley, David M; Watkins, David N

    2013-01-01

    Desmoplastic small round cell tumor (DSRCT) is characterized by the presence of a fusion protein EWS/WT1, arising from the t (11;22) (p13;q12) translocation. Here we examine the oncogenic properties of two splice variants of EWS/WT1, EWS/WT1-KTS and EWS/WT1 + KTS. We over-expressed both EWS/WT1 variants in murine embryonic fibroblasts (MEFs) of wild-type, p53 +/- and p53 -/- backgrounds and measured effects on cell-proliferation, anchorage-independent growth, clonogenicity after serum withdrawal, and sensitivity to cytotoxic drugs and gamma irradiation in comparison to control cells. We examined gene expression profiles in cells expressing EWS/WT1. Finally we validated our key findings in a small series of DSRCT. Neither isoform of EWS/WT1 was sufficient to transform wild-type MEFs however the oncogenic potential of both was unmasked by p53 loss. Expression of EWS/WT1 in MEFs lacking at least one allele of p53 enhanced cell-proliferation, clonogenic survival and anchorage-independent growth. EWS/WT1 expression in wild-type MEFs conferred resistance to cell-cycle arrest after irradiation and daunorubicin induced apoptosis. We show DSRCT commonly have nuclear localization of p53, and copy-number amplification of MDM2/MDMX. Expression of either isoform of EWS/WT1 induced characteristic mRNA expression profiles. Gene-set enrichment analysis demonstrated enrichment of WNT pathway signatures in MEFs expressing EWS/WT1 + KTS. Wnt-activation was validated in cell lines with over-expression of EWS/WT1 and in DSRCT. In conclusion, we show both isoforms of EWS/WT1 have oncogenic potential in MEFs with loss of p53. In addition we provide the first link between EWS/WT1 and Wnt-pathway signaling. These data provide novel insights into the function of the EWS/WT1 fusion protein which characterize DSRCT

  11. Food for thought: interpreting the parable of the loyal and wise slave ...

    African Journals Online (AJOL)

    The parable of the loyal and wise slave appears in Q 12:42-46 (Matt. 24:45-51; Luke 12:42-46). I have argued elsewhere that verses 45-46 were added to verses 42-44 by Q's main redactor. If so, only Q 12:42-44 originally appeared in Kloppenborg's formative stratum, or Q1. The purpose of the present article is to ascertain ...

  12. Non-Polluting Composites Repair and Remanufacturing for Military Applications

    Science.gov (United States)

    2002-12-16

    airframe Boeing Phantom Works, Seattle, WA EB Processing of tail sections, rudders, and composite skins Science Research Laboratory, Somerset, MA EB...5680 0.431 T-11-Z10 6985 0.422 T-11-Z01 6540 6810 0.383 0.389 T-11-Z03 6885 (355) 0.384 (0.019) T-11-Z07 7270 0.379 B T-11-Z02 6380 0.375...part adhesive resins is designed by controlling the extent of reaction of the epoxy matrix. The issue of gelation in condensation-type reactions where

  13. Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

    Science.gov (United States)

    Hamilton, V; Santa María, L; Fuenzalida, K; Morales, P; Desviat, L R; Ugarte, M; Pérez, B; Cabello, J F; Cornejo, V

    2017-12-30

    Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive disease, caused by mutations in the Phenylalanine Hydroxylase (PAH) gene situated in chromosome 12q22-q24.2. This gene has 13 exons. To date, 991 mutations have been described. The genotype is one of the main factors that determine the phenotype of this disease. Characterize PKU genotype and phenotype seen in Chilean PKU patients. We studied the PAH gene by restriction fragment length polymorphism (RFLP) and/or sequencing techniques to identify pathogenic mutations in 71 PKU subjects. We classified the phenotype according to Guldberg predicted value. We identified 26 different mutations in 134 of the 142 alleles studied (94.4%), 88.7% of the subjects had biallelic pathogenic mutations while 11.3% had only one pathogenic mutation identified. Compound heterozygous represented 85.9% of the cases. Exon 7 included the majority of mutations (26.9%) and 50% of mutations were missense. The most frequent mutations were c.1066-11G > A, c.442-?_509+?del and p.Val388Met. The majority of subjects (52.3%) had the classic phenotype. The most frequent mutations in our Chilean PKU population were p.Val388Met, c.442?_509+?del and c.1066-11G > A. It is possible to predict phenotype by detecting the genotype, and use this information to determine disease prognosis and adjust patient's medical and nutritional management accordingly.

  14. The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

    Science.gov (United States)

    Gerber, S; Rozet, J M; Takezawa, S I; dos Santos, L C; Lopes, L; Gribouval, O; Penet, C; Perrault, I; Ducroq, D; Souied, E; Jeanpierre, M; Romana, S; Frézal, J; Ferraz, F; Yu-Umesono, R; Munnich, A; Kaplan, J

    2000-09-01

    The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic study of a highly consanguineous endogamic population of Crypto-Jews of Belmonte affected with autosomal recessive retinitis pigmentosa (RP). A genome-wide search for homozygosity allowed us to localize the disease gene to chromosome 15q22-q24 (Zmax=2.95 at theta=0 at the D15S131 locus). Interestingly, the photoreceptor cell-specific nuclear receptor (PNR) gene, the expression of which is restricted to the outer nuclear layer of retinal photoreceptor cells, was found to map to the YAC contig encompassing the disease locus. A search for mutations allowed us to ascribe the RP of Crypto-Jews of Belmonte to a homozygous missense mutation in the PNR gene. Preliminary haplotype studies support the view that this mutation is relatively ancient but probably occurred after the population settled in Belmonte.

  15. MODY3, renal cysts, and Dandy-Walker variants with a microdeletion spanning the HNF1A gene.

    Science.gov (United States)

    Matsukura, Hiro; Nagamori, Mariko; Miya, Kazushi; Yorifuji, Tohru

    2017-09-01

    Heterozygous hepatocyte nuclear factor-1-α gene (HNF1A) mutations are the most common cause of maturity-onset diabetes of the young (MODY), but they rarely involve extrahepatic manifestations. Renal cysts and diabetes syndrome can be caused by HNF1B mutations. No association between MODY3 and Dandy-Walker variants (DWV) has been reported. HNF1A mutations might be responsible for renal malformations. In a Japanese girl with glycosuria, developmental delay, mental retardation, renal cysts, and DWV, the HNF1B gene had no mutations. Array comparative genomic hybridization analysis identified a de-novo interstitial 12q24.22-q24.31 deletion of 5.6 Mb encompassing the HNF1A gene, which is compatible with a diagnosis of MODY3. The variety of phenotypes suggests a novel microdeletion syndrome spanning the HNF1A gene. Because HNF1B functions as an HNF1A/HNF1B heterodimer, haploinsufficient HNF1A interacts with a certain HNF1B haplotype. The resulting truncated heterodimer might engender renal cysts. More patients with well-defined deletion within 12q.24.31 must be evaluated to produce a detailed genotype-phenotype correlation and to elucidate this emerging microdeletion syndrome.
.

  16. The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3

    Energy Technology Data Exchange (ETDEWEB)

    Kapfhamer, D.; Sufalko, D.; Warren, S. [Univ. of Michigan, Ann Arbor, MI (United States)] [and others

    1996-08-01

    Jittery (ji) is a recessive mouse mutation on Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, and death by dehydration/starvation before fertility. Recently, a viable neurological recessive mutation, hesitant, was discovered. It is characterized by hesitant, uncoordinated movements, exaggerated stepping of the hind limbs, and reduced fertility in males. In a complementation test and by genetic mapping we have shown here that hesitant and jittery are allelic. Using several large intersubspecific backcrosses and intercrosses we have genetically mapped ji near the marker Amh and microsatellite markers D10Mit7, D10Mit21, and D10Mit23. The linked region of mouse Chromosome 10 is homologous to human 19p13.3, to which several human ataxia loci have recently been mapped. By excluding genes that map to human 21q22.3 (Pfkl) and 12q23 (Nfyb), we conclude that jittery is not likely to be a genetic mouse model for human Unverricht-Lundborg progressive myoclonus epilepsy (EPM1) on 21q22.3 nor for spinocerebellar ataxia II (SCA2) on 12q22-q24. The closely linked markers presented here will facilitate positional cloning of the ji gene. 31 refs., 2 figs.

  17. Comparison of Pharmacokinetics and Safety of Voriconazole Intravenous-to-Oral Switch in Immunocompromised Children and Healthy Adults ▿

    Science.gov (United States)

    Driscoll, Timothy A.; Yu, Lolie C.; Frangoul, Haydar; Krance, Robert A.; Nemecek, Eneida; Blumer, Jeffrey; Arrieta, Antonio; Graham, Michael L.; Bradfield, Scott M.; Baruch, Alice; Liu, Ping

    2011-01-01

    Voriconazole pharmacokinetics are not well characterized in children despite prior studies. To assess the appropriate pediatric dosing, a study was conducted in 40 immunocompromised children aged 2 to voriconazole following intravenous (IV)-to-oral (PO) switch regimens based on a previous population pharmacokinetic modeling: 7 mg/kg IV every 12 h (q12h) and 200 mg PO q12h. Area under the curve over the 12-h dosing interval (AUC0–12) was calculated using the noncompartmental method and compared to that for adults receiving approved dosing regimens (6→4 mg/kg IV q12h, 200 mg PO q12h). On average, the AUC0–12 in children receiving 7 mg/kg IV q12h on day 1 and at IV steady state were 7.85 and 21.4 μg·h/ml, respectively, and approximately 44% and 40% lower, respectively, than those for adults at 6→4 mg/kg IV q12h. Large intersubject variability was observed. At steady state during oral treatment (200 mg q12h), children had higher average exposure than adults, with much larger intersubject variability. The exposure achieved with oral dosing in children tended to decrease as weight and age increased. The most common treatment-related adverse events were transient elevated liver function tests. No clear threshold of voriconazole exposure was identified that would predict the occurrence of treatment-related hepatic events. Overall, voriconazole IV doses higher than 7 mg/kg are needed in children to closely match adult exposures, and a weight-based oral dose may be more appropriate for children than a fixed dose. Safety of voriconazole in children was consistent with the known safety profile of voriconazole. PMID:21968355

  18. Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13.

    Science.gov (United States)

    Chang, Chia-Wei; Hsu, Hui-Kuo; Kao, Chiu-Ching; Huang, Jyun-Yuan; Kuo, Pao-Lin

    2014-04-01

    To identify Prader-Willi syndrome (PWS) and Angelman syndrome (AS) among fetuses with suspicious deletion of the chromosomal region 15q11-q13. In a retrospective study, data were assessed from fetuses missing chromosomal band 15q12 that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2012. Amniocytes were subjected to molecular testing, including fluorescence in situ hybridization (FISH) analysis, methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation-dependent probe amplification (MS-MLPA). During the 12-year study period, 26 041 amniocyte samples were analyzed at the study center and 27 (0.1%) were found to have a missing 15q12 band. A further 16 samples with a missing 15q12 band were received from other cytogenetic laboratories; as a result, 43 amniocyte samples lacking chromosomal band 15q12 underwent further molecular testing. Among these samples, 3 fetuses (7.0%) were found to have PWS (n=1) or AS (n=2). A minority of cases with missing 15q12 had deletion of the PWS/AS critical region. This finding draws attention to the subtle structural rearrangements that occur on 15q11-q13 and provides useful information for prenatal diagnosis of PWS and AS. Copyright © 2013 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  19. Fatty acid distribution of cord and maternal blood in human pregnancy: special focus on individual trans fatty acids and conjugated linoleic acids

    Directory of Open Access Journals (Sweden)

    Enke Uta

    2011-12-01

    Full Text Available Abstract Background Maternal nutrition in pregnancy has a crucial impact on the development of the fetus. Dietary trans fatty acids (tFA are known to have adverse health effects, especially during pregnancy. However, the distribution of tFA produced via partial hydrogenation of vegetable oils (mainly elaidic acid; t9 differs compared to ruminant-derived tFA (mainly vaccenic acid; t11. Recent findings indicate that they may have different impact on human health. Therefore, in this study, plasma and erythrocytes of mother-child pairs (n = 55 were sampled to investigate the distribution of tFA, including individual trans C18:1 fatty acids and conjugated linoleic acids (CLA in fetal related to maternal lipids; with additional consideration of maternal dairy fat intake. Results Portion of t9 and t11, but also of c9,t11 CLA was higher in maternal than in fetal blood lipids. The portion of t9 in maternal and fetal lipids differed only slightly. In contrast, the portion of fetal t11 was only half of that in maternal blood. This led to a fetal t9/t11-index in plasma and erythrocytes being twice as high compared to the maternal values. A high dairy fat intake resulted in elevated portions of t11 and its Δ9-desaturation product c9,t11 CLA in maternal blood. In contrast, in the respective fetal blood lipids only c9,t11 CLA, but not t11 was increased. Nevertheless, a positive association between maternal and fetal plasma exists for both t11 and c9,t11 CLA. Furthermore, in contrast to t9, t11 was not negatively associated with n-3 LC-PUFA in fetal blood lipids. Conclusions Fetal blood fatty acid composition essentially depends on and is altered by the maternal fatty acid supply. However, in addition to dietary factors, other aspects also contribute to the individual fatty acid distribution (oxidation, conversion, incorporation. The lower portion of fetal t11 compared to maternal t11, possibly results from Δ9-desaturation to c9,t11 CLA and/or oxidation

  20. Form of 15q proximal duplication appears to be a normal euchromatic variant

    Energy Technology Data Exchange (ETDEWEB)

    Jalal, S.M.; Persons, D.L.; DeWald, G.W.; Lindor, N.M.

    1994-10-01

    Deletions involving often leads to either Prader-Willi or Angelman syndrome, depending on the hereditary path of the deletion (paternal or maternal). A number of cases have been reported in which duplications involving 15q11.2-q13 have not been associated with any detectable phenotypic abnormalities. Ludowese et al. (1991) have summarized 25 such cases that include 10 of their own cases from 5 unrelated families. They conclude that duplication of 15q12-13 does not have an adverse phenotypic effect, though they do not completely rule out the possibility that, instead of 15q12-13 duplication, the extra material could be an insertion from another chromosome. Thus, the dilemma is when duplication of 15q11.2-q13 is clinically significant. We suggest that certain kinds of amplification or duplication involving distal 15q12 and 15q13 may represent a normal variant. 14 refs., 1 fig., 1 tab.

  1. Suspected hypothyroid-associated neuropathy in a female rottweiler dog

    OpenAIRE

    Rushton, James Oliver; Leschnik, Michael; Nell, Barbara

    2013-01-01

    A 7-year-old, 46-kg spayed female rottweiler dog was presented with sudden onset of disorientation, bilateral convergent strabismus, and enophthalmos. Diagnostic workup revealed hypothyroid-associated cranial neuropathy. Symptoms abated considerably upon treatment with levothyroxine-sodium (T4) at an initial dose of 800 μg/kg body weight (BW), PO, q12h, which was reduced 3 days later to 600 μg/kg BW, q12h due to severe agitation and panting. Two weeks later the dosage of the levothyroxine-sod...

  2. Neutrality of miniSTR D22S1045 marker by Ewing's sarcoma phenotype.

    Science.gov (United States)

    Silva, Deborah S B S; Raimann, Paulo E; Moro, Tatiane; Picanço, Juliane B; Abujamra, Ana L; de Farias, Caroline B; Roesler, Rafael; Brunetto, Algemir L; Alho, Clarice S

    2013-11-01

    Neutrality investigations of markers with forensic use are important to see if a phenotypic trait is being expressed in relation to the alleles of the marker. MiniSTR marker D22S1045 (locus 22q12.3) is localized near the breakpoint region of the EWS gene (22q12.2), which leads to the development of Ewing's Sarcoma. Analyzing allele frequencies and linkage disequilibrium in Ewing's sarcoma patients and non-affected populations, we found that the marker mD22S1045 was neutral when related to Ewing's Sarcoma. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  3. Amplification of HER2 is a marker for global genomic instability

    Directory of Open Access Journals (Sweden)

    Love Brad

    2008-10-01

    Full Text Available Abstract Background Genomic alterations of the proto-oncogene c-erbB-2 (HER-2/neu are associated with aggressive behavior and poor prognosis in patients with breast cancer. The variable clinical outcomes seen in patients with similar HER2 status, given similar treatments, suggests that the effects of amplification of HER2 can be influenced by other genetic changes. To assess the broader genomic implications of structural changes at the HER2 locus, we investigated relationships between genomic instability and HER2 status in patients with invasive breast cancer. Methods HER2 status was determined using the PathVysion® assay. DNA was extracted after laser microdissection from the 181 paraffin-embedded HER2 amplified (n = 39 or HER2 negative (n = 142 tumor specimens with sufficient tumor available to perform molecular analysis. Allelic imbalance (AI was assessed using a panel of microsatellite markers representing 26 chromosomal regions commonly altered in breast cancer. Student t-tests and partial correlations were used to investigate relationships between genomic instability and HER2 status. Results The frequency of AI was significantly higher (P P Conclusion The poor prognosis associated with HER2 amplification may be attributed to global genomic instability as cells with high frequencies of chromosomal alterations have been associated with increased cellular proliferation and aggressive behavior. In addition, high levels of DNA damage may render tumor cells refractory to treatment. In addition, specific alterations at chromosomes 11q13, 16q22-q24, and 18q21, all of which have been associated with aggressive tumor behavior, may serve as genetic modifiers to HER2 amplification. These data not only improve our understanding of HER in breast pathogenesis but may allow more accurate risk profiles and better treatment options to be developed.

  4. Physical mapping of a commonly deleted region, the site of a candidate tumor suppressor gene, at 12q22 in human male germ cell tumors

    Energy Technology Data Exchange (ETDEWEB)

    Murty, V.V.V.S.; Bosl, G.J.; Chaganti, R.S.K. [Memorial Sloan-Kettering Cancer Center, New York, NY (United States)] [and others

    1996-08-01

    A candidate tumor suppressor gene (TSG) site at 12q22 characterized by a high frequency of loss of heterozygosity (LOH) and a homozygous deletion has previously (LOH) and a homozygous deletion has previously been reported in human male germ cell tumors (GCTs). In a detailed deletion mapping analysis of 67 normal-tumor DNAs utilizing 20 polymorphic markers mapped to 12q22-q24, we identified the limits of the minimal region of deletion at 12q22 between D12S377 (priximal) and D12S296 (distal). We have constructed a YAC contig map of a 3-cM region of this band between the proximal marker D12S101 and the distal marker D12S346, which contained the minimal region of deletion in GCTs. The map is composed of 53 overlapping YACs and 3 cosmids onto which 25 polymorphic and nonpolymorphic sequence-tagged sites (STSs) were placed in a unique order. The size of the minimal region of deletion was approximately 2 Mb from overlapping, nonchimeric YACs that spanned the region. We also developed a radiation hybrid (RH) map of the region between D12S101 and D12S346 containing 17 loci. The consensus order developed by RH mapping is in good agreement with the YAC STS-content map order. The RH map estimated the distance between D12S101 and D12S346 to be 246 cR{sub 8000} and the minimal region of deletion to be 141 cR{sub 8000}. In addition, four genes that were previously mapped to 12q22 have been excluded as candidate genes. The leads gained from the deletion mapping and physical maps should expedite the isolation and characterization of the TSG at 12q22. 35 refs., 4 figs., 2 tabs.

  5. Formulation and Optimization of Gastric Bioadhesive Tablets of ...

    African Journals Online (AJOL)

    interpolation option of the Graph 2.0 software. (M/s Micromath Inc, St Louis, USA). Optimization data analysis and .... quadratic and interaction terms. Figs 2 to 4 show the various three dimensional response surface ... variation in Q12 is a function of polymer levels, the effect of HPMC being less significant. Fig 3: Response ...

  6. Observations on root disease of container whitebark pine seedlings treated with biological controls

    Science.gov (United States)

    R. Kasten Dumroese

    2008-01-01

    I observed that whitebark pine (Pinus albicaulis Engelm. [Pinaceae]) germinants treated with biological controls, one commercially available (Trichoderma harzianum strain T-22), and the other being studied for potential efficacy (Fusarium oxysporum isolate Q12), experienced less seedling mortality caused by root disease than did a...

  7. Evaluation of chromosomal abnormalities and common trombophilic ...

    African Journals Online (AJOL)

    2014-03-01

    ps+. 1. 46,XY,15ps+. 1. 46,XX,t(13;16) (q34,q12). 3. 46,XY,9qh+. 4. 46,XX. 128. 46,XYqh+, 9qh+. 1. 46,XY,21pss. 1. 46,XY,21cenh+. 1. 46,XY. 123. Total ... 84 normal results, 8 polymorphisms, 2 trisomy X and. 2 translocations ...

  8. Serious life threatening upper airway obstruction in congenital ...

    African Journals Online (AJOL)

    Reda A. Abolila

    2012-07-15

    Jul 15, 2012 ... some cases including: del (6)(q12q15); monosomy 9 q; trisomy. 16 q [6,7]. For the surviving babies spontaneous regression is usual (within one to two years) ... of Turner syndrome and showed regression of the lesions [13]. 2. Case presentation. Our patient was a girl the product of full term (38 weeks ges-.

  9. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

    DEFF Research Database (Denmark)

    Shoichet, Sarah A; Kunde, Stella-Amrei; Viertel, Petra

    2005-01-01

    We have investigated the chromosome abnormalities in a female patient exhibiting a severe cognitive disability associated with complete agenesis of the corpus callosum and microcephaly. The patient carries a balanced de novo translocation t(2;14)(p22;q12), together with a neighbouring 720 kb...

  10. Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.

    NARCIS (Netherlands)

    Feenstra, I.; Koolen, D.A.; Pas, J. van der; Hamel, B.C.J.; Mieloo, H.; Smeets, D.F.C.M.; Ravenswaaij-Arts, C.M.A. van

    2006-01-01

    Duplications of the proximal segment of chromosome 22q are not uncommon, like Cat-eye syndrome and duplications due to familial (11;22) translocations. However, duplications of the distal long arm of chromosome 22 (22qter) seem to be exceedingly rare. So far, duplications of 22q12 or 22q13 to 22qter

  11. Pharmacokinetics and Safety of Voriconazole Intravenous-to-Oral Switch Regimens in Immunocompromised Japanese Pediatric Patients

    Science.gov (United States)

    Kobayashi, Ryoji; Kato, Koji; Maeda, Naoko; Fukushima, Keitaro; Goto, Hiroaki; Inoue, Masami; Muto, Chieko; Okayama, Akifumi; Watanabe, Kenichi; Liu, Ping

    2014-01-01

    The aim of this study was to investigate the pharmacokinetics, safety, and tolerability of voriconazole following intravenous-to-oral switch regimens used with immunocompromised Japanese pediatric subjects (age 2 to voriconazole every 12 h (q12h), and 9 mg/kg (maximum, 350 mg) of oral voriconazole q12h (for patients age 2 to voriconazole q12h and 200 mg of oral voriconazole q12h (for patients age 12 to voriconazole exposures were comparable between these two groups due to large interindividual variability. The exposures in the 2 cytochrome P450 2C19 poor metabolizers were among the highest. Voriconazole was well tolerated. The most common treatment-related adverse events were photophobia and abnormal hepatic function. These recommended doses derived from the modeling appear to be appropriate for Japanese pediatric patients, showing no additional safety risks compared to those with adult patients. (This study has been registered at ClinicalTrials.gov under registration no. NCT01383993.) PMID:25451051

  12. Formulation Optimization and In-vitro Evaluation of Oral Floating ...

    African Journals Online (AJOL)

    The concentrations of HPMC K100M (X1) and xanthan gum (X2) were chosen as control variables. Conversely, the response variables selected were timed to release 50 % of the drug (t50%) at 6 h (Q6) and 12 h (Q12). Fourier transform infrared (FTIR) spectroscopy and differential scanning calorimetry (DSC) were used to ...

  13. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    Science.gov (United States)

    Wallis, C E; Beighton, P H

    1989-01-01

    A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene. Images PMID:2732995

  14. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    OpenAIRE

    Wallis, C E; Beighton, P H

    1989-01-01

    A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.

  15. Mechanisms of topoisomerase I (TOP1) gene copy number increase in a stage III colorectal cancer patient cohort

    DEFF Research Database (Denmark)

    Smith, David Hersi; Christensen, Ib Jarle; Jensen, Niels Frank

    2013-01-01

    Topoisomerase I (Top1) is the target of Top1 inhibitor chemotherapy. The TOP1 gene, located at 20q12-q13.1, is frequently detected at elevated copy numbers in colorectal cancer (CRC). The present study explores the mechanism, frequency and prognostic impact of TOP1 gene aberrations in stage III C...

  16. A PROVISIONAL TRANSCRIPT MAP OF THE SPINAL MUSCULAR-ATROPHY (SMA) CRITICAL REGION

    NARCIS (Netherlands)

    VANDERSTEEGE, G; DRAAIJERS, TG; GROOTSCHOLTEN, PM; OSINGA, J; ANZEVINO, R; VELONA, [No Value; DENDUNNEN, JT; SCHEFFER, H; BRAHE, C; VANOMMEN, GJB; BUYS, CHCM

    1995-01-01

    YACs from the region containing the spinal muscular atrophy (SMA) locus at 5q12 have been used as probes in a direct screening of cDNA libraries to isolate 8 cDNAs, mapped to different YAC fragments. Three clones showed complete identity to the genes for cyclin B1 (CCNB1), the p44 subunit of the

  17. Journal of Special Operation Medicine: A Peer Reviewed Journal for SOF Medical Professionals. Training Supplement, Winter 10

    Science.gov (United States)

    2010-01-01

    9 Anaphylactic Reaction 11 Asthma (Reactive Airway Disease )--------------------------------------- 12 Back Pain 13...cholecystitis, pancreatitis, perforated ulcer, and diverticulitis . 2. Consider constipation/ fecal impaction as a potential cause of abdominal pain...tadalifil (Cialis) 10mg q 12h. B. Do not use in HACE; the drop in blood pressure will worsen the symptoms of this disease . C. Administer

  18. Are TMEM genes potential candidate genes for panic disorder?

    DEFF Research Database (Denmark)

    NO, Gregersen; Buttenschøn, Henriette Nørmølle; Hedemand, Anne

    2014-01-01

    We analysed single nucleotide polymorphisms in two transmembrane genes (TMEM98 and TMEM132E) in panic disorder (PD) patients and control individuals from the Faroe Islands, Denmark and Germany. The genes encode single-pass membrane proteins and are located within chromosome 17q11.2-q12...

  19. Pharmacokinetic interactions between topiramate and diltiazem, hydrochlorothiazide, or propranolol.

    Science.gov (United States)

    Manitpisitkul, Prasarn; Curtin, Christopher R; Shalayda, Kevin; Wang, Shean-Sheng; Ford, Lisa; Heald, Donald

    2014-09-01

    Drug-drug interactions between topiramate and diltiazem, hydrochlorothiazide, or propranolol were evaluated along with safety/tolerability in three open-label studies. Healthy participants (aged 18-45 years) received topiramate 75 mg every 12 hours (q12h) and diltiazem 240 mg/day (study 1); topiramate 96 mg q12h and hydrochlorothiazide 25 mg/day (study 2); topiramate 100 mg q12h and propranolol 40-80 mg q12h (study 3). The pharmacokinetic parameters for topiramate, diltiazem (and active metabolites, desacetyldiltiazem [DEA], N-demethyl diltiazem [DEM]), hydrochlorothiazide, and propranolol (and its active metabolite) were assessed at steady state. Results showed no effect of diltiazem on topiramate pharmacokinetics. However, a modest reduction in systemic exposures of diltiazem and DEA (10-27%) occurred during coadministration with topiramate. Systemic exposure of DEM was unaffected. Furthermore, oral and renal clearance of topiramate decreased (22-30%) significantly (P hydrochlorothiazide, while systemic exposure increased by 27-29%. Topiramate had no effect on hydrochlorothiazide pharmacokinetics. The results demonstrated lack of pharmacokinetic interaction between topiramate and propranolol. Overall, no new safety concerns emerged when topiramate was coadministered with diltiazem, hydrochlorothiazide, or propranolol. © 2014, The American College of Clinical Pharmacology.

  20. Electrical control of spontaneous emission and strong coupling for a single quantum dot

    DEFF Research Database (Denmark)

    Laucht, A.; Hofbauer, F.; Hauke, N.

    2009-01-01

    coupling regime, and electrical control of zerodimensional polaritons is demonstrated for the highest-Q cavities (Q > 12 000). Vacuum Rabi splittings up to 120μeV are observed, larger than the linewidths of either the decoupled exciton ( 6 40μeV) or cavity mode. These observations represent a voltage...

  1. ISSN 2073 ISSN 2073 9990 East Cent. Afr. J. 9990 East Cent. Afr. J ...

    African Journals Online (AJOL)

    Hp 630 Dual Core

    Myxoid morphology in lipoblastoma is extremely uncommon 16, 17 and in such cases where histopathology is inconclusive, genetic rearrangement of the PLAG1 (pleomorphic adenoma gene 1) oncogene on chromosome 8q12 confirms the diagnosis of lipoblastoma. PLAG1 gene rearrangement has been detected in 70 % ...

  2. Association study of the IL18RAP locus in three European populations with coeliac disease

    NARCIS (Netherlands)

    Koskinen, Lotta L. E.; Einarsdottir, Elisabet; Dukes, Emma; Heap, Graham A. R.; Dubois, Patrick; Korponay-Szabo, Ilma R.; Kaukinen, Katri; Kurppa, Kalle; Ziberna, Fabiana; Vatta, Serena; Not, Tarcisio; Ventura, Alessandro; Sistonen, Pertti; Adany, Roza; Pocsai, Zsuzsa; Szeles, Gyoergy; Maki, Markku; Kere, Juha; Wijmenga, Cisca; van Heel, David A.; Saavalainen, Paivi

    2009-01-01

    Coeliac disease is caused by dietary gluten, triggering a chronic inflammation of the small intestine in genetically predisposed individuals. Recently, a risk locus on chromosome 2q11-q12, harbouring interleukin 18 receptor accessory protein (IL18RAP) and three other genes, was suggested for coeliac

  3. Variation near the hepatocyte nuclear factor (HNF)-4alpha gene associates with type 2 diabetes in the Danish population

    DEFF Research Database (Denmark)

    Hansen, S K; Rose, C S; Glümer, C

    2005-01-01

    The hepatocyte nuclear factor (HNF)-4alpha is an orphan nuclear receptor, which plays crucial roles in regulating hepatic gluconeogenesis and insulin secretion. The gene encoding HNF-4alpha (HNF4A) is located on chromosome 20q12-q13 in a region that in several studies has shown linkage with type 2...

  4. A Phase II Randomized, Double-blind, Multicenter Study to Evaluate Efficacy and Safety of Intravenous Iclaprim Versus Vancomycin for the Treatment of Nosocomial Pneumonia Suspected or Confirmed to be Due to Gram-positive Pathogens.

    Science.gov (United States)

    Huang, David B; File, Thomas M; Torres, Antoni; Shorr, Andrew F; Wilcox, Mark H; Hadvary, Paul; Dryden, Matthew; Corey, G Ralph

    2017-08-01

    The primary objective of this Phase II study was to compare the clinical cure rates of 2 iclaprim dosages versus vancomycin in the treatment of patients with nosocomial pneumonia suspected or confirmed to be caused by gram-positive pathogens. This study was a double-blind, randomized, multicenter trial. A total of 70 patients were randomized 1:1:1 to receive iclaprim 0.8 mg/kg IV q12h (iclaprim q12h; n = 23), iclaprim 1.2 mg/kg IV q8h (iclaprim q8h; n = 24), or vancomycin 1 g IV q12h (vancomycin; n = 23) for 7 to 14 days. The primary end point was clinical cure in the intention-to-treat population at test of cure (TOC; 7 [1] days' posttreatment) visit. The baseline and demographic characteristics of patients treated with either iclaprim or vancomycin were comparable. Cure rates in the intention-to-treat population were 73.9% (17 of 23), 62.5% (15 of 24), and 52.2% (12 of 23) at the TOC visit in the iclaprim q12h, iclaprim q8h, and vancomycin groups, respectively (iclaprim q12h vs vancomycin, P = 0.13; iclaprim q8h vs vancomycin, P = 0.47). The death rates within 28 days of the start of treatment were 8.7% (2 of 23), 12.5% (3 of 24), and 21.7% (5 of 23) for the iclaprim q12h, iclaprim q8h, and vancomycin groups (no statistically significant differences). The adverse event profile of both iclaprim dosing regimens was similar to that of vancomycin. Iclaprim had clinical cure rates and a safety profile comparable with vancomycin among patients with nosocomial pneumonia. Iclaprim could be an important new therapeutic option for the treatment of nosocomial pneumonia, and a pivotal clinical trial is warranted to evaluate its safety and efficacy in this indication. Copyright © 2017 Elsevier HS Journals, Inc. All rights reserved.

  5. The club-shaped cord terminus in siblings with caudal agenesis: MRI

    International Nuclear Information System (INIS)

    Uenal, Oe.; Sakarya, M.E.; Arslan, H.

    1999-01-01

    We report a rare instance of caudal agenesis occurring in siblings, with MRI. Both our patients had a club-shaped spinal cord, ending at T11. Radiological and urological findings are presented. (orig.)

  6. 75 FR 26098 - Safety Zone; Under Water Clean Up of Copper Canyon, Lake Havasu, AZ

    Science.gov (United States)

    2010-05-11

    ... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Safety Zone; Under Water Clean Up of Copper Canyon, Lake....T11-179 to read as follows: Sec. 165.T11-179 Safety zone; Copper Canyon Clean Up, Lake Havasu, AZ. (a... establishing a temporary safety zone on the navigable waters of Lake Havasu in the Copper Canyon in support of...

  7. Effect of lipid supplementation on milk fatty acid focus on rumenic acid.

    Directory of Open Access Journals (Sweden)

    Esperanza Prieto-Manrique

    2016-06-01

    Full Text Available The aim of this study was to review the effect of the lipid supplementation on the concentration of conjugated linoleic acid (CLA-c9t11 or rumenic acid and other unsaturated fatty acids in bovine milk. The study addressed the concept and origin of the CLA-c9t11 in ruminants. There is an international trend to improve nutrition quality , which implies an increase in consumption of animal protein, including the healthy and rich in CLA-c9t11 dairy products. CLA-c9t11 has proved to have anticancer effects in animal models. CLA-c9t11 in the bovine milk results from the consumption of unsaturated fatty acids and from the extent of rumen biohydrogenation. Supplementation with unsaturated fatty acids of vegetable origin allows to increase the concentration of CLA-c9t11 and to decrease the proportion of saturated fatty acids in milk, but the response varies depending on the source of fat used, its level, and its interaction with basal diet

  8. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    DEFF Research Database (Denmark)

    Phelan, Catherine M; Kuchenbaecker, Karoline B; Tyrer, Jonathan P

    2017-01-01

    To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC...... histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers...

  9. Pharmacokinetic-pharmacodynamic analyses for efficacy of ceftaroline fosamil in patients with community-acquired bacterial pneumonia.

    Science.gov (United States)

    Bhavnani, Sujata M; Hammel, Jeffrey P; Van Wart, Scott A; Rubino, Christopher M; Reynolds, Daniel K; Forrest, Alan; Khariton, Tatiana; Friedland, H David; Riccobene, Todd A; Ambrose, Paul G

    2013-12-01

    Pharmacokinetic-pharmacodynamic (PK-PD) analyses for efficacy using phase III trial data from patients treated with a ceftaroline fosamil dosing regimen of 600 mg intravenously (i.v.) every 12 h (q12h) for 5 to 7 days for community-acquired bacterial pneumonia (CABP) were conducted. High clinical and microbiological success rates (84.7 and 86.3%, respectively) and percentages of time during the dosing interval that free-drug steady-state concentrations remained above the MIC (f%T>MIC) (98.4% had f%T>MIC values of ≥63.3) were observed among 124 microbiologically evaluable patients. As a result, significant PK-PD relationships could not be identified. These data provide support for the use of a ceftaroline fosamil dosing regimen of 600 mg i.v. q12h to treat patients with CABP.

  10. Comparative In Vivo Efficacies of Epithelial Lining Fluid Exposures of Tedizolid, Linezolid, and Vancomycin for Methicillin-Resistant Staphylococcus aureus in a Mouse Pneumonia Model

    Science.gov (United States)

    Tessier, Pamela R.; Keel, Rebecca A.; Hagihara, Mao; Crandon, Jared L.

    2012-01-01

    The antibacterial efficacies of tedizolid phosphate (TZD), linezolid, and vancomycin regimens simulating human exposures at the infection site against methicillin-resistant Staphylococcus aureus (MRSA) were compared in an in vivo mouse pneumonia model. Immunocompetent BALB/c mice were orally inoculated with one of three strains of MRSA and subsequently administered 20 mg/kg TZD every 24 hours (q24h), 120 mg/kg linezolid q12h, or 25 mg/kg vancomycin q12h over 24 h. These regimens produced epithelial lining fluid exposures comparable to human exposures observed following intravenous regimens of 200 mg TZD q24h, 600 mg linezolid q12h, and 1 g vancomycin q12h. The differences in CFU after 24 h of treatment were compared between control and treatment groups. Vehicle-dosed control groups increased in bacterial density an average of 1.1 logs. All treatments reduced the bacterial density at 24 h with an average of 1.2, 1.6, and 0.1 logs for TZD, linezolid, and vancomycin, respectively. The efficacy of TZD versus linezolid regimens against the three MRSA isolates was not statistically different (P > 0.05), although both treatments were significantly different from controls. In contrast, the vancomycin regimen was significantly different from TZD against one MRSA isolate and from linezolid against all isolates. The vancomycin regimen was less protective than either the TZD or linezolid regimens, with overall survival of 61.1% versus 94.7% or 89.5%, respectively. At human simulated exposures to epithelial lining fluid, vancomycin resulted in minimal reductions in bacterial counts and higher mortality compared to those of either TZD or linezolid. TZD and linezolid showed similar efficacies in this MRSA pneumonia model. PMID:22354302

  11. C syndrome with skeletal anomalies, mental retardation, eyelid ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2016-02-18

    Feb 18, 2016 ... trisomy [19], 3q trisomy [16], distal 3q trisomy with deletion of distal 3p [20], and inversion in chromosome 3 [21]. Chinen et al. [22] described a patient with a severe Opitz trigono- cephaly C syndrome phenotype and balanced reciprocal translocation t(3; 18) (q13.13; q12.1). C syndrome is inherited in an ...

  12. The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition

    Science.gov (United States)

    Tomson, Steffie N.; Avidan, Nili; Lee, Kwanghyuk; Sarma, Anand K.; Tushe, Rejnal; Milewicz, Dianna M.; Bray, Molly; Leal, Suzanne M.; Eagleman, David M.

    2014-01-01

    Synesthesia is a perceptual condition in which sensory stimulation triggers anomalous sensory experiences. In colored sequence synesthesia (CSS), color experiences are triggered by sequences such as letters or numbers. We performed a family based linkage analysis to identify genetic loci responsible for the increased neural crosstalk underlying CSS. Our results implicate a 23 MB region at 16q12.2-23.1, providing the first step in understanding the molecular basis of CSS. PMID:21504763

  13. Low-Speed Wind Tunnel Testing of the NPS/NASA Ames Mach 6 Optimized Waverider

    Science.gov (United States)

    1994-06-16

    ntwof * 5000! VEX A - axialf * 5000! / VEX S1 - sonel * 50001 / VEX S? - stwol * 5000! / VEX R - rmf * 416.67f / VEX 600 IF nonel >- 0 THEN GOTO 1000...0.637985 0.034399 0.000264 90 -3.109447 0.185533 -0.160018 -0.575876 0.031314 -0.000202 81 JET.r RUN ISO , 2: TUNNEL PARAMETERS Ap = 5.50 cm H20 q = 12.1

  14. Graft versus host disease prophylaxis

    Indian Academy of Sciences (India)

    First page Back Continue Last page Overview Graphics. Graft versus host disease prophylaxis. Cyclosporine -2.5mg/KG IV over 4 hrs q12h. - 5mg/Kg BD orally for 6 months - taper- stop at one year if no GVHD. Methotrexate :INITIAL. day +1- 15mg/m2; day + 3, 6, 11- 10 mg/m2; :CURRENT; day +1-10mg/m2; day + 3,6,11 ...

  15. Identification of four new translocations involving FGFR1 in myeloid disorders

    NARCIS (Netherlands)

    Sohal, J.; Chase, A.; Mould, S.; Corcoran, M.; Oscier, D.; Iqbal, S.; Parker, S.; Welborn, J.; Harris, R. I.; Martinelli, G.; Montefusco, V.; Sinclair, P.; Wilkins, B. S.; van den Berg, H.; Vanstraelen, D.; Goldman, J. M.; Cross, N. C.

    2001-01-01

    The 8p11 myeloproliferative syndrome (EMS) is associated with three translocations, t(8;13)(p11;q12), t(8;9)(p11;q33), and t(6;8)(q27;p11), that fuse unrelated genes (ZNF198, CEP110, and FOP, respectively) to the entire tyrosine kinase domain of FGFR1. In all cases thus far examined (n = 10), the

  16. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

    DEFF Research Database (Denmark)

    Pharoah, Paul D P; Tsai, Ya-Yu; Ramus, Susan J

    2013-01-01

    associations close to genome-wide significance and identified three loci newly associated with risk: two loci associated with all EOC subtypes at 8q21 (rs11782652, P = 5.5 × 10−9) and 10p12 (rs1243180, P = 1.8 × 10−8) and another locus specific to the serous subtype at 17q12 (rs757210, P = 8.1 × 10...

  17. Pharmacokinetic/pharmacodynamic analysis to evaluate ceftaroline fosamil dosing regimens for the treatment of community-acquired bacterial pneumonia and complicated skin and skin-structure infections in patients with normal and impaired renal function.

    Science.gov (United States)

    Canut, A; Isla, A; Rodríguez-Gascón, A

    2015-04-01

    In this study, the probability of pharmacokinetic/pharmacodynamic target attainment (PTA) of ceftaroline against clinical isolates causing community-acquired bacterial pneumonia (CABP) and complicated skin and skin-structure infection (cSSSI) in Europe was evaluated. Three dosing regimens were assessed: 600 mg every 12 h (q12 h) as a 1-h infusion (standard dose) or 600 mg every 8 h (q8 h) as a 2-h infusion in virtual patients with normal renal function; and 400 mg q12 h as a 1-h infusion in patients with moderate renal impairment. Pharmacokinetic and microbiological data were obtained from the literature. The PTA and the cumulative fraction of response (CFR) were calculated by Monte Carlo simulation. In patients with normal renal function, the ceftaroline standard dose (600 mg q12 h as a 1-h infusion) can be sufficient to treat CABP due to ceftazidime-susceptible (CAZ-S) Escherichia coli, CAZ-S Klebsiella pneumoniae, meticillin-susceptible Staphylococcus aureus, Streptococcus pneumoniae, Haemophilus influenzae and Moraxella catarrhalis (CFR>90%). However, against meticillin-resistant S. aureus (MRSA), the CFR was 72%. In cSSSI, the CFR was also ceftaroline 600 mg q8 h as a 2-h infusion or 400 mg q12 h as a 1-h infusion in patients with moderate renal insufficiency provided a high probability of treatment success (CFR ca. 100%) for most micro-organisms causing CABP and cSSSI, including MRSA and penicillin-non-susceptible S. pneumoniae. These results suggest that in patients with normal renal function, ceftaroline 600 mg q8 h as a 2-h infusion may be a better option than the standard dose, especially if the MRSA rate is high. Copyright © 2015 Elsevier B.V. and the International Society of Chemotherapy. All rights reserved.

  18. Pharmacokinetic-Pharmacodynamic Target Attainment Analyses To Evaluate In Vitro Susceptibility Test Interpretive Criteria for Ceftaroline against Staphylococcus aureus and Streptococcus pneumoniae

    Science.gov (United States)

    Van Wart, Scott A.; Ambrose, Paul G.; Rubino, Christopher M.; Khariton, Tatiana; Riccobene, Todd A.; Friedland, H. David; Critchley, Ian A.

    2014-01-01

    To provide support for in vitro susceptibility test interpretive criteria decisions for ceftaroline against Staphylococcus aureus and Streptococcus pneumoniae, as well as dose adjustment recommendations for renal impairment, pharmacokinetic-pharmacodynamic (PK-PD) target attainment was evaluated for simulated patients administered intravenous (i.v.) ceftaroline fosamil at 600 mg twice daily (q12h) and simulated patients with renal impairment administered various dosing regimens. Using a previously developed population PK model, Monte Carlo simulation was used to generate ceftaroline plasma concentration profiles for simulated patients with normal renal function or mild, moderate, or severe renal impairment. Using these profiles, the percentage of time during the dosing interval that free-drug concentrations remained above the MIC (f%T>MIC) for ceftaroline at steady state was calculated. Percentages of simulated patients achieving f %T>MIC targets for S. aureus and S. pneumoniae based on murine infection models were calculated by MIC. At MICs of 2 mg/liter for S. aureus and 1 mg/liter for S. pneumoniae, the percentages of simulated patients with normal renal function and mild renal impairment following administration of ceftaroline fosamil at 600 mg q12h, moderate renal impairment following administration of ceftaroline fosamil at 400 mg q12h, and severe renal impairment following administration of ceftaroline fosamil at 300 mg q12h achieving f %T>MIC targets (≥26 for S. aureus and ≥44 for S. pneumoniae) exceeded 90%. The results of these analyses, which suggested that in vitro susceptibility test interpretive criteria defining susceptible could be as high as MICs of ≤2 and ≤1 mg/liter for ceftaroline against S. aureus and S. pneumoniae, respectively, provide support for current FDA and CLSI criteria, which define susceptible as MICs of 1 and 0.5 mg/liter, respectively. Recommendations for dose adjustments for patients with renal impairment were also

  19. Sequential Evolution of Vancomycin-Intermediate Resistance Alters Virulence in Staphylococcus aureus: Pharmacokinetic/Pharmacodynamic Targets for Vancomycin Exposure

    Science.gov (United States)

    Lenhard, Justin R.; Brown, Tanya; Rybak, Michael J.; Meaney, Calvin J.; Norgard, Nicholas B.; Bulman, Zackery P.; Brazeau, Daniel A.; Gill, Steven R.

    2015-01-01

    Staphylococcus aureus possesses exceptional virulence and a remarkable ability to adapt in the face of antibiotic therapy. We examined the in vitro evolution of S. aureus in response to escalating vancomycin exposure by evaluating bacterial killing and the progression of resistance. A hollow-fiber infection model was utilized to simulate human doses of vancomycin increasing from 0.5 to 4 g every 12 h (q12h) versus a high inoculum (108 CFU/ml) of methicillin-resistant S. aureus (MRSA) USA300 and USA400. Host-pathogen interactions using Galleria mellonella and accessory gene regulator (agr) expression were studied in serially obtained isolates. In both USA300 and USA400 MRSA isolates, vancomycin exposure up to 2 g q12h resulted in persistence and regrowth, whereas 4 g administered q12h achieved sustained killing against both strains. As vancomycin exposure increased from 0.5 to 2 g q12h, the bacterial population shifted toward vancomycin-intermediate resistance, and collateral increases in the MICs of daptomycin and televancin were observed over 10 days. Guideline-recommended exposure of a ratio of the area under the concentration-time curve for the free, unbound fraction of the drug to the MIC (fAUC/MIC ratio) of 200 displayed a 0.344-log bacterial reduction in area, whereas fAUC/MICs of 371 and 554 were needed to achieve 1.00- and 2.00-log reductions in area, respectively. The stepwise increase in resistance paralleled a decrease in G. mellonella mortality (P = 0.021) and a gradual decline of RNAIII expression over 10 days. Currently recommended doses of vancomycin resulted in amplification of resistance and collateral damage to other antibiotics. Decreases in agr expression and virulence during therapy may be an adaptive mechanism of S. aureus persistence. PMID:26711763

  20. Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

    DEFF Research Database (Denmark)

    Jones, Gregory T; Tromp, Gerard; Kuivaniemi, Helena

    2017-01-01

    studies (GWAS). Through a meta-analysis of 6 GWAS datasets and a validation study totalling 10,204 cases and 107,766 controls we identified 4 new AAA risk loci: 1q32.3 (SMYD2), 13q12.11 (LINC00540), 20q13.12 (near PCIF1/MMP9/ZNF335), and 21q22.2 (ERG). In various database searches we observed no new...

  1. Use of Monte Carlo simulation to evaluate the efficacy of tigecycline and minocycline for the treatment of pneumonia due to carbapenemase-producing Klebsiella pneumoniae.

    Science.gov (United States)

    Ni, Wentao; Li, Guobao; Zhao, Jin; Cui, Junchang; Wang, Rui; Gao, Zhancheng; Liu, Youning

    2018-01-09

    Pneumonia caused by carbapenemase-producing Klebsiella pneumoniae (CP-KP) are increasingly encountered in hospitals worldwide, causing high mortality due to lack of treatment options. The goal of this study was to assess the efficacy of tigecycline and minocycline for CP-KP hospital-acquired pneumonia (HAP) by using Monte Carlo simulation. A total of 164 non-duplicated CP-KP strains were collected from sputum or blood in patients with HAP. The MICs for antimicrobials were determined by the agar dilution method. A 10,000-patient Monte Carlo Simulation based on a PK/PD model incorporating the MICs and population pharmacokinetic parameters were conducted to calculate probability of target attainment (PTA) at each MIC value and total cumulative fraction of response (CFR). The susceptibility rate of tigecycline and minocycline were 79.9% and 41.5%, respectively. At recommended doses, an optimal PTA of 90% was obtained for treating HAP caused by CP-KP with MICs of tigecycline ≤0.5 mg/L or minocycline ≤4 mg/L. The CFR of tigecycline at the recommended dose and double dose (100 mg q12h) were 71.2% and 90.2%, respectively. The CFR of minocycline at recommended dose and double dose (200 mg q12h) was 53.4% and 77.2%, respectively. The findings of this study suggest that the recommended dose of tigecycline was not effective in HAP caused by CP-KP, and a higher CFR indicating a better clinical efficacy can be gained by doubling the dose (100 mg q12h). minocycline (200 mg q12h) might be a potential alternative of tigecycline to against strains with MICs ≤ 8 mg/L.

  2. AcEST: BP916694 [AcEST

    Lifescience Database Archive (English)

    Full Text Available MAN HERV-K_1q22 provirus ancestral Gag polypro... 33 0.53 sp|P63145|GAK11_HUMAN HERV-K_22q11.2...AK8_HUMAN HERV-K_3q12.3 provirus ancestral Gag polypr... 33 0.90 sp|P62690|GAK18_HUMAN HERV-K_22q11.23 provi

  3. Daunorubicin Hydrochloride, Cytarabine and Oblimersen Sodium in Treating Patients With Previously Untreated Acute Myeloid Leukemia

    Science.gov (United States)

    2013-06-04

    Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Secondary Acute Myeloid Leukemia; Untreated Adult Acute Myeloid Leukemia

  4. The Siblings With Ischemic Stroke Study (SWISS): A Progress Report

    OpenAIRE

    Meschia, James F.; Kissela, Brett M.; Brott, Thomas G.; Brown, Robert D.; Worrall, Bradford B.; Beck, Jeanne; Skarp, Alexa N.

    2006-01-01

    There is increasing evidence that genetic factors are associated with ischemic stroke, including multiple recent reports of association with the gene PDE4D, encoding phosphodiesterase 4D, on chromosome 5q12. Genetic studies of stroke are important but can be logistically difficult to perform. This article reviews the design of the Siblings With Ischemic Stroke Study (SWISS) and discusses problems in performing a sibling-based pedigree study where proband-initiated consent is used to enroll pe...

  5. Designing a treatment protocol with voriconazole to eliminate Aspergillus fumigatus from experimentally inoculated pigeons.

    Science.gov (United States)

    Beernaert, Lies A; Pasmans, Frank; Baert, Kris; Van Waeyenberghe, Lieven; Chiers, Koen; Haesebrouck, Freddy; Martel, An

    2009-11-18

    To investigate the efficacy of voriconazole for the treatment of aspergillosis, three groups of six racing pigeons (Columba livia domestica) were inoculated in the apical part of the right lung with 2x10(7) conidia of an avian derived Aspergillus fumigatus strain. The minimal inhibitory concentration of voriconazole for this strain was 0.25 microg/ml. In two groups, voriconazole treatment was started upon appearance of the first clinical signs and continued for fourteen days. The third group was sham treated. The voriconazole-treated pigeons received voriconazole orally at a dose of 10 mg/kg body weight (BW) q12h (group 1) or 20 mg/kg BW q24h (group 2). Sixteen days post-inoculation all surviving pigeons were euthanized. Weight loss, clinical scores, daily mortality, lesions at necropsy and isolation of A. fumigatus were compared between all groups. In both voriconazole-treated groups, a significant reduction in clinical signs and lesions was observed. Administering voriconazole at 10 mg/kg BW q12h eliminated A. fumigatus and administering voriconazole at 20 mg/kg BW q24h reduced A. fumigatus isolation rates. Mild histological liver abnormalities were found in group 1 (10 mg/kg BW q12h), while mild histological as well as macroscopic liver abnormalities were found in group 2 (20 mg/kg BW q24h). In conclusion, voriconazole at 10 mg/kg BW q12h in pigeons reduces clinical signs and eliminates A. fumigatus in racing pigeons experimentally infected with A. fumigatus.

  6. Comparative in vivo efficacies of epithelial lining fluid exposures of tedizolid, linezolid, and vancomycin for methicillin-resistant Staphylococcus aureus in a mouse pneumonia model.

    Science.gov (United States)

    Tessier, Pamela R; Keel, Rebecca A; Hagihara, Mao; Crandon, Jared L; Nicolau, David P

    2012-05-01

    The antibacterial efficacies of tedizolid phosphate (TZD), linezolid, and vancomycin regimens simulating human exposures at the infection site against methicillin-resistant Staphylococcus aureus (MRSA) were compared in an in vivo mouse pneumonia model. Immunocompetent BALB/c mice were orally inoculated with one of three strains of MRSA and subsequently administered 20 mg/kg TZD every 24 hours (q24h), 120 mg/kg linezolid q12h, or 25 mg/kg vancomycin q12h over 24 h. These regimens produced epithelial lining fluid exposures comparable to human exposures observed following intravenous regimens of 200 mg TZD q24h, 600 mg linezolid q12h, and 1 g vancomycin q12h. The differences in CFU after 24 h of treatment were compared between control and treatment groups. Vehicle-dosed control groups increased in bacterial density an average of 1.1 logs. All treatments reduced the bacterial density at 24 h with an average of 1.2, 1.6, and 0.1 logs for TZD, linezolid, and vancomycin, respectively. The efficacy of TZD versus linezolid regimens against the three MRSA isolates was not statistically different (P > 0.05), although both treatments were significantly different from controls. In contrast, the vancomycin regimen was significantly different from TZD against one MRSA isolate and from linezolid against all isolates. The vancomycin regimen was less protective than either the TZD or linezolid regimens, with overall survival of 61.1% versus 94.7% or 89.5%, respectively. At human simulated exposures to epithelial lining fluid, vancomycin resulted in minimal reductions in bacterial counts and higher mortality compared to those of either TZD or linezolid. TZD and linezolid showed similar efficacies in this MRSA pneumonia model.

  7. Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

    Science.gov (United States)

    Kuroda, Yukiko; Ohashi, Ikuko; Saito, Toshiyuki; Nagai, Jun-Ichi; Ida, Kazumi; Naruto, Takuya; Wada, Takahito; Kurosawa, Kenji

    2014-11-01

    Angelman syndrome (AS) is characterized by severe intellectual disability with ataxia, epilepsy, and behavioral uniqueness. The underlining molecular deficit is the absence of the maternal copy of the imprinted UBE3A gene due to maternal deletions, which is observed in 70-75% of cases, and can be detected using fluorescent in situ hybridization (FISH) of the UBE3A region. Only a few familial AS cases have been reported with a complete deletion of UBE3A. Here, we report on siblings with AS caused by a microdeletion of 15q11.2-q12 encompassing UBE3A at the breakpoint of an inversion at 15q11.2 and 15q26.1. Karyotyping revealed an inversion of 15q, and FISH revealed the deletion of the UBE3A region. Array comparative genomic hybridization (CGH) demonstrated a 467 kb deletion at 15q11.2-q12, encompassing only UBE3A, SNORD115, and PAR1, and a 53 kb deletion at 15q26.1, encompassing a part of SLCO3A1. Their mother had a normal karyotype and array CGH detected no deletion of 15q11.2-q12, so we assumed gonadal mosaicism. This report describes a rare type of familial AS detected using the D15S10 FISH test. © 2014 Wiley Periodicals, Inc.

  8. Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry.

    Science.gov (United States)

    Conti, David V; Wang, Kan; Sheng, Xin; Bensen, Jeannette T; Hazelett, Dennis J; Cook, Michael B; Ingles, Sue A; Kittles, Rick A; Strom, Sara S; Rybicki, Benjamin A; Nemesure, Barbara; Isaacs, William B; Stanford, Janet L; Zheng, Wei; Sanderson, Maureen; John, Esther M; Park, Jong Y; Xu, Jianfeng; Stevens, Victoria L; Berndt, Sonja I; Huff, Chad D; Wang, Zhaoming; Yeboah, Edward D; Tettey, Yao; Biritwum, Richard B; Adjei, Andrew A; Tay, Evelyn; Truelove, Ann; Niwa, Shelley; Sellers, Thomas A; Yamoah, Kosj; Murphy, Adam B; Crawford, Dana C; Gapstur, Susan M; Bush, William S; Aldrich, Melinda C; Cussenot, Olivier; Petrovics, Gyorgy; Cullen, Jennifer; Neslund-Dudas, Christine; Stern, Mariana C; Jarai, Zsofia-Kote; Govindasami, Koveela; Chokkalingam, Anand P; Hsing, Ann W; Goodman, Phyllis J; Hoffmann, Thomas; Drake, Bettina F; Hu, Jennifer J; Clark, Peter E; Van Den Eeden, Stephen K; Blanchet, Pascal; Fowke, Jay H; Casey, Graham; Hennis, Anselm J M; Han, Ying; Lubwama, Alexander; Thompson, Ian M; Leach, Robin; Easton, Douglas F; Schumacher, Fredrick; Van den Berg, David J; Gundell, Susan M; Stram, Alex; Wan, Peggy; Xia, Lucy; Pooler, Loreall C; Mohler, James L; Fontham, Elizabeth T H; Smith, Gary J; Taylor, Jack A; Srivastava, Shiv; Eeles, Rosalind A; Carpten, John; Kibel, Adam S; Multigner, Luc; Parent, Marie-Elise; Menegaux, Florence; Cancel-Tassin, Geraldine; Klein, Eric A; Brureau, Laurent; Stram, Daniel O; Watya, Stephen; Chanock, Stephen J; Witte, John S; Blot, William J; Henderson, Brian E; Haiman, Christopher A

    2017-08-01

    Prostate cancer incidence is 1.6-fold higher in African Americans than in other populations. The risk factors that drive this disparity are unknown and potentially consist of social, environmental, and genetic influences. To investigate the genetic basis of prostate cancer in men of African ancestry, we performed a genome-wide association meta-analysis using two-sided statistical tests in 10 202 case subjects and 10 810 control subjects. We identified novel signals on chromosomes 13q34 and 22q12, with the risk-associated alleles found only in men of African ancestry (13q34: rs75823044, risk allele frequency = 2.2%, odds ratio [OR] = 1.55, 95% confidence interval [CI] = 1.37 to 1.76, P = 6.10 × 10-12; 22q12.1: rs78554043, risk allele frequency = 1.5%, OR = 1.62, 95% CI = 1.39 to 1.89, P = 7.50 × 10-10). At 13q34, the signal is located 5' of the gene IRS2 and 3' of a long noncoding RNA, while at 22q12 the candidate functional allele is a missense variant in the CHEK2 gene. These findings provide further support for the role of ancestry-specific germline variation in contributing to population differences in prostate cancer risk. © The Author 2017. Published by Oxford University Press.

  9. Blastomatoid pulmonary carcinosarcoma: report of a case with a review of the literature

    Science.gov (United States)

    2012-01-01

    Background Pulmonary carcinosarcoma is a biphasic tumour with an unfavourable prognosis. The differential diagnosis includes pulmonary blastoma and is often challenging. Case presentation We here describe a case of blastomatoid pulmonary carcinosarcoma in a 58-year-old patient, who underwent surgical resection. Histopathological examination revealed immature glandular epithelium resembling high-grade fetal adenocarcinoma expressing epithelial markers and membranous beta-catenin, and blastomatoid spindle cells with partial rhabdomyosarcoma-like differentiation. Both elements expressed p53, MDM2, and cyclin-dependent kinase 4 (CDK4), but not thyroid-transcription factor 1 (TTF-1). Mutation analysis of KRAS, EGFR, and beta-catenin revealed no mutations. Comparative genomic hybridization detected +1q, +6p, +6q24qter, +8q, +11q12q14, +11q23qter, +12q12q21, +12q24qter, +17q, +20q, -5q14q23, -9p13pter, -13q21q21, and amplifications at 12q14q21, 15q24qter, 20q11q12. Conclusion The observed molecular and cytogenetic findings may provide additional tools for the differential diagnosis of biphasic pulmonary neoplasms. Furthermore, TP53, MDM2, CDK4, and PTPN1 may be involved in tumourigenesis. PMID:23006472

  10. Intraventricular administration of tigecycline for the treatment of multidrug-resistant bacterial meningitis after craniotomy: a case report.

    Science.gov (United States)

    Wu, Yuanxing; Chen, Kai; Zhao, Jingwei; Wang, Qiang; Zhou, Jianxin

    2018-02-01

    Intracranial infections, especially multidrug-resistant (MDR) bacterial meningitis, are one of the most severe complications after craniotomy and may greatly impact patient outcomes. We report a case of severe MDR Klebsiella pneumonia meningitis after craniotomy that was treated with three different dosages of tigecycline (Pfizer, New York, NY, U.S.A.)via a combined intravenous (IV) and intracerebroventricular (ICV) administration. Here, we discuss the pharmacokinetics (PK) of a combined IV and ICV tigecycline administration for a patient with an intracranial infection after craniotomy. In the present case, three different dosages of tigecycline were administered: 49 mg IV plus 1 mg ICV q12 h, 45 mg IV plus 5 mg ICV q12 h, 40 mg IV plus 10 mg ICV q12 h. The combined IV and ICV administration might improve CSF tigecycline concentrations, and in this case, the methods of administration were safe and effective.

  11. The conjugated linoleic acid isomer trans-9,trans-11 is a dietary occurring agonist of liver X receptor {alpha}

    Energy Technology Data Exchange (ETDEWEB)

    Ecker, Josef; Liebisch, Gerhard [Institute of Clinical Chemistry, University of Regensburg (Germany); Patsch, Wolfgang [Department of Laboratory Medicine, Hospital of Salzburg (Austria); Schmitz, Gerd, E-mail: gerd.schmitz@klinik.uni-regensburg.de [Institute of Clinical Chemistry, University of Regensburg (Germany)

    2009-10-30

    Conjugated linoleic acid (CLA) isomers are dietary fatty acids that modulate gene expression in many cell types. We have previously reported that specifically trans-9,trans-11 (t9,t11)-CLA induces expression of genes involved in lipid metabolism of human macrophages. To elucidate the molecular mechanism underlying this transcriptional activation, we asked whether t9,t11-CLA affects activity of liver X receptor (LXR) {alpha}, a major regulator of macrophage lipid metabolism. Here we show that t9,t11-CLA is a regulator of LXR{alpha}. We further demonstrate that the CLA isomer induces expression of direct LXR{alpha} target genes in human primary macrophages. Knockdown of LXR{alpha} with RNA interference in THP-1 cells inhibited t9,t11-CLA mediated activation of LXR{alpha} including its target genes. To evaluate the effective concentration range of t9,t11-CLA, human primary macrophages were treated with various doses of CLA and well known natural and synthetic LXR agonists and mRNA expression of ABCA1 and ABCG1 was analyzed. Incubation of human macrophages with 10 {mu}M t9,t11-CLA led to a significant modulation of ABCA1 and ABCG1 transcription and caused enhanced cholesterol efflux to high density lipoproteins and apolipoprotein AI. In summary, these data show that t9,t11-CLA is an agonist of LXR{alpha} in human macrophages and that its effects on macrophage lipid metabolism can be attributed to transcriptional regulations associated with this nuclear receptor.

  12. Improvement in performance of affinity gels containing Gly-D-Phe as a ligand to thermolysin due to increasing the spacer chain length.

    Science.gov (United States)

    Inouye, Kuniyo; Nakamura, Koji; Kusano, Masayuki; Yasukawa, Kiyoshi

    2007-08-01

    The aim of this study was to improve the performance of affinity gels containing glycyl-D-phenylalanine (Gly-D-Phe) as a ligand to thermolysin. Gly-D-Phe was immobilized to the resin through spacers of varying chain lengths. The resulting affinity gels had spacer chain lengths of 2 carbon atoms and 11 and 13 carbon-and-oxygen atoms (designated T2, T11, and T13), and were characterized for their binding abilities to thermolysin. Measurement of adsorption isotherms showed that the association constants to thermolysin were in the order T13 > T11 > T2. In affinity column chromatography, in which 5 mg thermolysin was applied onto 1-ml volumes of the gels, the adsorption ratios of thermolysin were also in the order T13 > T11 > T2. These results indicate that the performance of affinity gels is improved by increasing the spacer chain length to 13 carbon-and-oxygen atoms.

  13. Evaluation of the Impact of Ruminant Trans Fatty Acids on Human Health: Important Aspects to Consider.

    Science.gov (United States)

    Kuhnt, Katrin; Degen, Christian; Jahreis, Gerhard

    2016-09-09

    The definition and evaluation of trans fatty acids (TFA) with regard to foodstuffs and health hazard are not consistent. Based on the current situation, the term should be restricted only to TFA with isolated double bonds in trans-configuration. Conjugated linoleic acids (CLA) should be separately assessed. Ideally, the origin of the consumed fat should be declared, i.e., ruminant TFA (R-TFA) and industrial TFA (non-ruminant; I-TFA). In ruminant fat, more than 50% of R-TFA consists of vaccenic acid (C18:1 t11). In addition, natural CLA, i.e., c9,t11 CLA is also present. Both are elevated in products from organic farming. In contrast to elaidic acid (t9) and t10, which occur mainly in partially hydrogenated industrial fat, t11 is partially metabolized into c9,t11 CLA via Δ9-desaturation. This is the major metabolic criterion used to differentiate between t11 and other trans C18:1. t11 indicates health beneficial effects in several studies. Moreover, CLA in milk fat is associated with the prevention of allergy and asthma. An analysis of the few studies relating to R-TFA alone makes clear that no convincing adverse physiological effect can be attributed to R-TFA. Only extremely high R-TFA intakes cause negative change in blood lipids. In conclusion, in most European countries, the intake of R-TFA is assessed as being low to moderate. Restriction of R-TFA would unjustifiably represent a disadvantage for organic farming of milk.

  14. Pedobacter ureilyticus sp. nov., isolated from tomato rhizosphere soil.

    Science.gov (United States)

    Ngo, Hien T T; Kook, MooChang; Yi, Tae-Hoo

    2015-03-01

    A Gram-stain-negative, strictly aerobic, rod-shaped and pinkish-yellow bacterium, which was motile by gliding and designated strain THG-T11(T), was isolated from tomato rhizosphere soil in Gyeonggi province, Republic of Korea. Based on 16S rRNA gene sequence comparisons, strain THG-T11(T) was found to be most closely related to 'Pedobacter zeaxanthinifaciens' TDMA-5 (95.9 % sequence similarity), Pedobacter agri PB92(T) (94.9 %), Pedobacter rhizosphaerae 01-96(T) (94.6 %) and Pedobacter alluvionis NWER-II11(T) (94.5 %). The DNA G+C content was 38.4 mol%. The only isoprenoid quinone detected in strain THG-T11(T) was menaquinone-7 (MK-7). The major component in the polyamine pattern was sym-homospermidine. The major polar lipids were phosphatidylethanolamine, an unidentified phosphoglycolipid, an unidentified glycolipid, an unidentified lipid, unidentified aminophospholipids and unidentified aminolipids. The major ceramide was found to be ceramide phosphorylethanolamine. The major fatty acids were identified as iso-C15 : 0, summed feature 3 (C16 : 1ω7c and/or C16 : 1ω6c) and C16 : 0. These data support the affiliation of strain THG-T11(T) to the genus Pedobacter. Based on phenotypic, chemotaxonomic and phylogenetic analysis, it is proposed that strain THG-T11(T) represents a novel species of the genus Pedobacter for which the name Pedobacter ureilyticus sp. nov. is proposed, with THG-T11(T) as the type strain ( = KACC 17660(T) = JCM 19461(T)). © 2015 IUMS.

  15. Effects of butter naturally enriched with conjugated linoleic acid and vaccenic acid on blood lipids and LDL particle size in growing pigs

    Directory of Open Access Journals (Sweden)

    Haug Anna

    2008-08-01

    Full Text Available Abstract Background Cow milk is a natural source of the cis 9, trans 11 isomer of conjugated linoleic acid (c9,t11-CLA and trans vaccenic acid (VA. These fatty acids may be considered as functional foods, and the concentration in milk can be increased by e.g. sunflower oil supplementation to the dairy cow feed. The objective of this study was to compare the effects of regular butter with a special butter naturally enriched in c9,t11-CLA and VA on plasma lipids in female growing pigs. The experimental period lasted for three weeks and the two diets provided daily either 5.0 g c9,t11-CLA plus 15.1 g VA or 1.3 g c9,t11-CLA plus 3.6 g VA. Results The serum concentrations of c9,t11-CLA, VA and alpha-linolenic acid were increased and myristic (14:0 and palmitic acid (16:0 were reduced in the pigs fed the CLA+VA-rich butter-diet compared to regular butter, but no differences in plasma concentrations of triacylglycerol, cholesterol, HDL-cholesterol, LDL-cholesterol, LDL particle size distribution or total cholesterol/HDL cholesterol were observed among the two dietary treatment groups. Conclusion Growing pigs fed diets containing butter naturally enriched in about 20 g c9,t11-CLA plus VA daily for three weeks, had increased serum concentrations of alpha-linolenic acid and decreased myristic and palmitic acid compared to pigs fed regular butter, implying a potential benefit of the CLA+VA butter on serum fatty acid composition. Butter enriched in CLA+VA does not appear to have significant effect on the plasma lipoprotein profile in pigs.

  16. Effects of butter naturally enriched with conjugated linoleic acid and vaccenic acid on blood lipids and LDL particle size in growing pigs.

    Science.gov (United States)

    Haug, Anna; Sjøgren, Per; Hølland, Nina; Müller, Hanne; Kjos, Nils P; Taugbøl, Ole; Fjerdingby, Nina; Biong, Anne S; Selmer-Olsen, Eirik; Harstad, Odd M

    2008-08-29

    Cow milk is a natural source of the cis 9, trans 11 isomer of conjugated linoleic acid (c9,t11-CLA) and trans vaccenic acid (VA). These fatty acids may be considered as functional foods, and the concentration in milk can be increased by e.g. sunflower oil supplementation to the dairy cow feed. The objective of this study was to compare the effects of regular butter with a special butter naturally enriched in c9,t11-CLA and VA on plasma lipids in female growing pigs. The experimental period lasted for three weeks and the two diets provided daily either 5.0 g c9,t11-CLA plus 15.1 g VA or 1.3 g c9,t11-CLA plus 3.6 g VA. The serum concentrations of c9,t11-CLA, VA and alpha-linolenic acid were increased and myristic (14:0) and palmitic acid (16:0) were reduced in the pigs fed the CLA+VA-rich butter-diet compared to regular butter, but no differences in plasma concentrations of triacylglycerol, cholesterol, HDL-cholesterol, LDL-cholesterol, LDL particle size distribution or total cholesterol/HDL cholesterol were observed among the two dietary treatment groups. Growing pigs fed diets containing butter naturally enriched in about 20 g c9,t11-CLA plus VA daily for three weeks, had increased serum concentrations of alpha-linolenic acid and decreased myristic and palmitic acid compared to pigs fed regular butter, implying a potential benefit of the CLA+VA butter on serum fatty acid composition. Butter enriched in CLA+VA does not appear to have significant effect on the plasma lipoprotein profile in pigs.

  17. Foetal cord blood contains higher portions of n-3 and n-6 long-chain PUFA but lower portions of trans C18:1 isomers than maternal blood.

    Science.gov (United States)

    Schlörmann, Wiebke; Kramer, Ronny; Lochner, Alfred; Rohrer, Carsten; Schleussner, Ekkehard; Jahreis, Gerhard; Kuhnt, Katrin

    2015-01-01

    An adequate supply of long-chain polyunsaturated fatty acids (LC PUFA) promotes foetal health and development, whereas generally, trans fatty acids (tFA) are considered to negatively interfere with LC PUFA metabolism. Nevertheless, to date, limited data concerning separate trans C18:1, such as t9 and t11, are available for maternal and foetal blood. Therefore, in this study the portions of individual trans C18:1, LC n-6, and n-3 PUFA in lipids of maternal and foetal plasma and erythrocyte membranes of German mother and child pairs (n=40) were analysed. Portions of linoleic acid and α-linolenic acid as LC precursors were lower (~0.4-fold); whereas the metabolites arachidonic acid (AA, n-6) and docosahexaenoic acid (DHA, n-3) were significantly higher (~2-fold) in foetal than in maternal plasma and erythrocytes. The main tFA in maternal and foetal blood were elaidic acid (C18:1t9; t9) and vaccenic acid (C18:1t11; t11). Portions of t9, t10, t11, and t12 in foetal blood lipids were lower (~0.5-fold) compared with maternal blood. In foetal lipids, t9 was higher than t11. The t9 correlated negatively with eicosapentaenoic acid (n-3) and AA in maternal and foetal lipids; whereas t11 correlated negatively only with foetal total LC n-6 (plasma and erythrocytes) and n-3 PUFA (erythrocytes). No correlation between maternal tFA and foetal PUFA was observed. 'Biomagnification' of LC n-6 and n-3 PUFA AA and DHA in foetal blood was confirmed, whereas single trans isomers were lower compared with maternal blood. Nevertheless, tFA intake, especially from industrial sources, should be as low as possible.

  18. The reaction d-vector p→3Heπ0 near threshold

    International Nuclear Information System (INIS)

    Nikulin, V.N.; Boudard, A.; Fabbro, B.; Garcon, M.; Mayer, B.; Clajus, M.; Kessler, R.S.; Nefkens, B.M.K.; Plouin, F.

    1996-06-01

    Angular distributions for the differential cross section and three deuteron analyzing powers iT 11 , T 20 and T 22 of the reaction d-vector p → 3 Heπ 0 have been measured over the whole angular domain at 20 energies close to threshold (0.03 π cm 20 both show strong variation in energy and angle due to interference between S and P-wave pion production, whereas iT 11 and T 22 remain consistent with zero over the whole experimental range. (author)

  19. The pharmacokinetics and safety of twice daily i.v. BU during conditioning in pediatric allo-SCT recipients.

    Science.gov (United States)

    Le Gall, J B; Milone, M C; Waxman, I M; Shaw, L M; Harrison, L; Duffy, D; van de Ven, C; Militano, O; Geyer, M B; Morris, E; Bhatia, M; Satwani, P; George, D; Garvin, J H; Bradley, M B; Schwartz, J; Baxter-Lowe, L A; Cairo, M S

    2013-01-01

    Intravenous BU divided four times daily (q6 h) has been shown to be safe and effective in pediatric allo-SCT recipients. Though less frequent dosing is desirable, pharmacokinetic (PK) data on twice daily (q12 h) i.v. BU administration in pediatric allo-SCT recipients is limited. We prospectively examined the PK results in a cohort of pediatric allo-SCT recipients receiving i.v. BU q12 h as part of conditioning before allo-SCT. BU levels were obtained after the first dose of conditioning. PK parameter analysis (n=49) yielded the following 95% confidence intervals (CI₉₅): weight-normalized volume of distribution: 0.65-0.73 L/kg; t(1/2): 122-147 min; weight-normalized clearance (CL(n)): 3.4-4.3 mL/min/kg; and area under the curve: 1835-2180 mmol × min/L. From these results, a steady state concentration was calculated with CI₉₅ between 628-746 ng/mL. Comparison between recipients ≤4 vs >4 years old revealed significant differences in t(1/2) (mean: 115 vs 146 min, P=0.008) and CL(n) (mean: 4.4 vs 3.5 mL/min/kg, P=0.038). Intravenous BU q12 h had a comparable PK to i.v. BU q6 h PK seen in the literature, and in pediatric allo-SCT recipients, is a feasible, attractive alternative to i.v. q6h dosing.

  20. Population Pharmacokinetic Analysis of Voriconazole and Anidulafungin in Adult Patients with Invasive Aspergillosis

    Science.gov (United States)

    Mould, Diane R.

    2014-01-01

    To assess the pharmacokinetics (PK) of voriconazole and anidulafungin in patients with invasive aspergillosis (IA) in comparison with other populations, sparse PK data were obtained for 305 adults from a prospective phase 3 study comparing voriconazole and anidulafungin in combination versus voriconazole monotherapy (voriconazole, 6 mg/kg intravenously [IV] every 12 h [q12h] for 24 h followed by 4 mg/kg IV q12h, switched to 300 mg orally q12h as appropriate; with placebo or anidulafungin IV, a 200-mg loading dose followed by 100 mg q24h). Voriconazole PK was described by a two-compartment model with first-order absorption and mixed linear and time-dependent nonlinear (Michaelis-Menten) elimination; anidulafungin PK was described by a two-compartment model with first-order elimination. For voriconazole, the normal inverse Wishart prior approach was implemented to stabilize the model. Compared to previous models, no new covariates were identified for voriconazole or anidulafungin. PK parameter estimates of voriconazole and anidulafungin are in agreement with those reported previously except for voriconazole clearance (the nonlinear clearance component became minimal). At a 4-mg/kg IV dose, voriconazole exposure tended to increase slightly as age, weight, or body mass index increased, but the difference was not considered clinically relevant. Estimated voriconazole exposures in IA patients at 4 mg/kg IV were higher than those reported for healthy adults (e.g., the average area under the curve over a 12-hour dosing interval [AUC0–12] at steady state was 46% higher); while it is not definitive, age and concomitant medications may impact this difference. Estimated anidulafungin exposures in IA patients were comparable to those reported for the general patient population. This study was approved by the appropriate institutional review boards or ethics committees and registered on ClinicalTrials.gov (NCT00531479). PMID:24913161

  1. Comparison of Pharmacokinetics and Safety of Voriconazole Intravenous-to-Oral Switch in Immunocompromised Adolescents and Healthy Adults ▿

    Science.gov (United States)

    Driscoll, Timothy A.; Frangoul, Haydar; Nemecek, Eneida R.; Murphey, Donald K.; Yu, Lolie C.; Blumer, Jeffrey; Krance, Robert A.; Baruch, Alice; Liu, Ping

    2011-01-01

    The current voriconazole dosing recommendation in adolescents is based on limited efficacy and pharmacokinetic data. To confirm the appropriateness of dosing adolescents like adults, a pharmacokinetic study was conducted in 26 immunocompromised adolescents aged 12 to voriconazole to oral switch regimens: 6 mg/kg IV every 12 h (q12h) on day 1 followed by 4 mg/kg IV q12h, then switched to 300 mg orally q12h. Area under the curve over a 12-hour dosing interval (AUC0–12) was calculated using a noncompartmental method and compared to the value for adults receiving the same dosing regimens. On average, the AUC0–12 in adolescents after the first loading dose on day 1 and at steady state during IV treatment were 9.14 and 22.4 μg·h/ml, respectively (approximately 34% and 36% lower, respectively, than values for adults). At steady state during oral treatment, adolescents also had lower average exposure than adults (16.7 versus 34.0 μg·h/ml). Larger intersubject variability was observed in adolescents than in adults. There was a slight trend for some young adolescents with low body weight to have lower voriconazole exposure. It is likely that these young adolescents may metabolize voriconazole more similarly to children than to adults. Overall, with the same dosing regimens, voriconazole exposures in the majority of adolescents were comparable to those in adults. The young adolescents with low body weight during the transitioning period from childhood to adolescence (e.g., 12 to 14 years old) may need to receive higher doses to match the adult exposures. Safety of voriconazole in adolescents was consistent with the known safety profile of voriconazole. PMID:21911570

  2. Penetration of Ceftaroline into the Epithelial Lining Fluid of Healthy Adult Subjects.

    Science.gov (United States)

    Riccobene, Todd A; Pushkin, Richard; Jandourek, Alena; Knebel, William; Khariton, Tatiana

    2016-10-01

    Ceftaroline, the active metabolite of the prodrug ceftaroline fosamil, is a cephalosporin with bactericidal activity against Gram-positive organisms, including methicillin-resistant Staphylococcus aureus (MRSA). This study aimed to (i) evaluate ceftaroline concentrations in human plasma and epithelial lining fluid (ELF) and (ii) develop a population pharmacokinetic (PK) model for plasma and ELF to be used in PK/pharmacodynamic (PD) target attainment simulations. Ceftaroline concentrations in ELF and plasma at steady state (day 4) were measured in healthy adult subjects for two dosages: 600 mg every 12 h (q12h) and 600 mg every 8 h (q8h). Both were well tolerated with no serious adverse events. The penetration of free ceftaroline into ELF, assuming 20% protein binding in plasma and no protein binding in ELF, was ≈23%. The population PK model utilized a two-compartment model for both ceftaroline fosamil and ceftaroline. Goodness-of-fit criteria revealed the model was consistent with observed data and no systematic bias remained. At 600 mg q12h and a MIC of 1 mg/liter, 98.1% of simulated patients would be expected to achieve a target free drug concentration above the MIC (fT>MIC) in plasma of 42%, and in ELF 81.7% would be expected to achieve a target fT>MIC of 17%; at 600 mg q8h, 100% were predicted to achieve an fT>MIC in plasma of 42% and 94.7% to achieve an fT>MIC of 17% in ELF. The literature and data suggest the 600 mg q12h dose is adequate for MICs of ≤1 mg/liter. There is a need for clinical data in patients with MRSA pneumonia and data to correlate PK/PD relationships in ELF with clinical outcomes. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

  3. An open-label, non-randomised, phase 1, single-dose study to assess the pharmacokinetics of ceftaroline in patients with end-stage renal disease requiring intermittent haemodialysis.

    Science.gov (United States)

    Sunzel, Maria; Learoyd, Maria; Li, Jianguo; Li, Yan; Ngo, Ngoc; Edeki, Timi

    2015-12-01

    For patients with normal renal function, the recommended ceftaroline fosamil dose is a 600 mg 1-h intravenous (i.v.) infusion every 12 h (q12h). In patients with a creatinine clearance of ≤30 mL/min, including those with end-stage renal disease (ESRD), the recommended dose is a 200 mg 1-h i.v. infusion q12h. This phase 1 study (NCT01664065) evaluated the pharmacokinetics, safety and tolerability of ceftaroline fosamil 200 mg 1-h i.v. infusion in patients with ESRD. Patients with ESRD (n=8) participated in two treatment periods (ceftaroline fosamil 200 mg administered pre- and post-haemodialysis) separated by >1 week. Healthy volunteers (n=7) received a single 600 mg dose of ceftaroline fosamil. Blood (pre- and post-haemodialysis) and dialysate samples were obtained for pharmacokinetic analysis. In patients with ESRD, the geometric mean [coefficient of variation (%CV)] plasma ceftaroline area under the plasma concentration-time curve from zero to infinity (AUC0-∞) following post-haemodialysis ceftaroline fosamil 200 mg infusion was 64.8 (38.9)μg·h/mL, similar to that in volunteers following a 600 mg infusion [62.7 (9.4)μg·h/mL]. Ceftaroline AUC0-∞ decreased by ca. 50% when infusion was initiated pre-haemodialysis. In the pre-haemodialysis treatment period, 80% of the ceftaroline fosamil dose was recovered in dialysate as ceftaroline (73%) and ceftaroline M-1 (7%). The frequency of adverse events was similar across patients with ESRD (pre- and post-haemodialysis) and volunteers (43%, 50% and 43% of subjects, respectively). Ceftaroline fosamil 200 mg 1-h i.v. infusion q12h, administered post-haemodialysis on dialysis days, is an appropriate dosage regimen for ESRD patients. Copyright © 2015 Elsevier B.V. and the International Society of Chemotherapy. All rights reserved.

  4. Evaluation of the pharmacokinetics and safety of single and multiple ceftaroline fosamil infusions in healthy Chinese and Western subjects.

    Science.gov (United States)

    Yang, Li; Sunzel, Maria; Xu, Peng; Edeki, Timi; Wilson, David; Li, Jianguo; Li, Haiyan

    2015-08-01

    Two phase I studies in healthy Chinese (NCT01458743) and Western (NCT01612507) subjects evaluated the pharmacokinetics (PK) and safety of single and multiple ceftaroline fosamil 600 mg infusions administered every 8 or 12 hours (q8h or q12h). Each study enrolled subjects sequentially into 1 of 2 cohorts (cohort 1: 60-minute infusions; cohort 2: 120-minute infusions). All subjects in the Chinese (n = 26) study received open label ceftaroline fosamil; in the Western study, subjects (n = 41) in each cohort were randomized 3 : 1 to ceftaroline fosamil or placebo infusions. Single infusions were administered on days 1 and 8. On days 2 - 7 (3 - 7 for Chinese study, cohort 1) subjects received q12h or q8h infusions. Plasma and urine were collected on days 1 and 8 for PK analysis. Ceftaroline PK was linear and time-independent following single and multiple doses of ceftaroline fosamil. The magnitude and timing of peak plasma concentrations of ceftaroline (active metabolite), ceftaroline fosamil (prodrug), and ceftaroline M-1 (inactive metabolite) varied according to the ceftaroline fosamil dosing schedule (q12h or q8h) and infusion duration (60 minutes or 120 minutes), but overall plasma ceftaroline exposures within the respective dosing intervals were broadly similar across cohorts. The most frequent adverse events were rash/drug eruption, most of which were of mild-moderate intensity and considered related to treatment. Ceftaroline PK was broadly similar in healthy Chinese and Western subjects receiving equivalent dose regimens. The tolerability profile of ceftaroline fosamil in Chinese and Western subjects was consistent with previous clinical trials.

  5. Effects of meloxicam on hematologic and plasma biochemical analysis variables and results of histologic examination of tissue specimens of Japanese quail (Coturnix japonica).

    Science.gov (United States)

    Sinclair, Kristin M; Church, Molly E; Farver, Thomas B; Lowenstine, Linda J; Owens, Sean D; Paul-Murphy, Joanne

    2012-11-01

    To determine the effects of meloxicam on values of hematologic and plasma biochemical analysis variables and results of histologic examination of tissue specimens of Japanese quail (Coturnix japonica). 30 adult Japanese quail. 15 quail underwent laparoscopic examination of the left kidneys, and 15 quail underwent laparoscopic examination and biopsy of the left kidneys. Quail in each of these groups received meloxicam (2.0 mg/kg, IM, q 12 h; n = 10) or a saline (0.9% NaCl) solution (0.05 mL, IM, q 12 h; control birds; 5) for 14 days. A CBC and plasma biochemical analyses were performed at the start of the study and within 3 hours after the last treatment. Birds were euthanized and necropsies were performed. No adverse effects of treatments were observed, and no significant changes in values of hematologic variables were detected during the study. Plasma uric acid concentrations and creatine kinase or aspartate aminotransferase activities were significantly different before versus after treatment for some groups of birds. Gross lesions identified during necropsy included lesions at renal biopsy sites and adjacent air sacs (attributed to the biopsy procedure) and pectoral muscle hemorrhage and discoloration (at sites of injection). Substantial histopathologic lesions were limited to pectoral muscle necrosis, and severity was greater for meloxicam-treated versus control birds. Meloxicam (2.0 mg/kg, IM, q 12 h for 14 days) did not cause substantial alterations in function of or histopathologic findings for the kidneys of Japanese quail but did induce muscle necrosis; repeated IM administration of meloxicam to quail may be contraindicated.

  6. Characterization for elastic constants of fused deposition modelling-fabricated materials based on the virtual fields method and digital image correlation

    Science.gov (United States)

    Cao, Quankun; Xie, Huimin

    2017-12-01

    Fused deposition modelling (FDM), a widely used rapid prototyping process, is a promising technique in manufacturing engineering. In this work, a method for characterizing elastic constants of FDM-fabricated materials is proposed. First of all, according to the manufacturing process of FDM, orthotropic constitutive model is used to describe the mechanical behavior. Then the virtual fields method (VFM) is applied to characterize all the mechanical parameters (Q_{11}, Q_{22}, Q_{12}, Q_{66}) using the full-field strain, which is measured by digital image correlation (DIC). Since the principal axis of the FDM-fabricated structure is sometimes unknown due to the complexity of the manufacturing process, a disk in diametrical compression is used as the load configuration so that the loading angle can be changed conveniently. To verify the feasibility of the proposed method, finite element method (FEM) simulation is conducted to obtain the strain field of the disk. The simulation results show that higher accuracy can be achieved when the loading angle is close to 30°. Finally, a disk fabricated by FDM was used for the experiment. By rotating the disk, several tests with different loading angles were conducted. To determine the position of the principal axis in each test, two groups of parameters (Q_{11}, Q_{22}, Q_{12}, Q_{66}) are calculated by two different groups of virtual fields. Then the corresponding loading angle can be determined by minimizing the deviation between two groups of the parameters. After that, the four constants (Q_{11}, Q_{22}, Q_{12}, Q_{66}) were determined from the test with an angle of 27°.

  7. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

    OpenAIRE

    Lin, Zhimiao; Chen, Quan; Shi, Lei; Lee, Mingyang; Giehl, Kathrin A.; Tang, Zhanli; Wang, Huijun; Zhang, Jie; Yin, Jinghua; Wu, Lingshen; Xiao, Ruo; Liu, Xuanzhu; Dai, Lanlan; Zhu, Xuejun; Li, Ruoyu

    2012-01-01

    Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonse...

  8. Efficacy of tylosin tablets for the treatment of pyoderma due to Staphylococcus intermedius infection in dogs.

    Science.gov (United States)

    Scott, D W; Miller, W H; Cayatte, S M; Bagladi, M S

    1994-01-01

    Tylosin tablets (20 mg/kg, q12h) were administered orally to 21 dogs with superficial or deep staphylococcal pyodermas. Response to therapy was excellent in 90.5% of the dogs, and in vitro susceptibility testing correlated perfectly with therapeutic response. Duration of therapy varied from 17 to 91 days, with an average of 33 days. Relapses occurred in 28.6% of the dogs within a three-month period. No side effects were reported. Under the conditions of the study, tylosin was an effective and safe antibiotic for the treatment of staphylococcal pyoderma in dogs. PMID:7994702

  9. Interleukin 18 receptor 1 gene polymorphisms are associated with asthma

    DEFF Research Database (Denmark)

    Zhu, Guohua; Whyte, Moira K B; Vestbo, Jørgen

    2008-01-01

    by genotyping seven SNPs in 294, 342 and 100 families from Denmark, United Kingdom and Norway and conducting family-based association analyses for asthma, atopic asthma and bronchial hyper-reactivity (BHR) phenotypes. Three SNPs in IL18R1 were associated with asthma (0.01131 ...The interleukin 18 receptor (IL18R1) gene is a strong candidate gene for asthma. It has been implicated in the pathophysiology of asthma and maps to an asthma susceptibility locus on chromosome 2q12. The possibility of association between polymorphisms in IL18R1 and asthma was examined...... with atopic asthma (0.00066 asthma (0.00397

  10. Genome-wide association studies identify four ER negative-specific breast cancer risk loci

    DEFF Research Database (Denmark)

    Garcia-Closas, Montserrat; Couch, Fergus J; Lindstrom, Sara

    2013-01-01

    ), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER...

  11. Absent endometrium due to balanced translocation [t(4;20] presenting as primary amenorrhea

    Directory of Open Access Journals (Sweden)

    Aruna Nigam

    2014-01-01

    Full Text Available Primary amenorrhea is defined as the absence of menarche by 16-18 years of age in the presence of well-developed secondary sexual characters. An incidence of 1-3% has been reported in women of reproductive age group. The etiology varies with anatomical, genetic and hormonal factors implicated in the causation of primary amenorrhea. We present a case of absent endometrium due to balanced reciprocal translocation (RCPTR, 46 XX t (4;20(q12;q13.1 as primary amenorrhea.

  12. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

    Science.gov (United States)

    Meilleur, K.G.; Traoré, M.; Sangaré, M.; Britton, A.; Landouré, G.; Coulibaly, S.; Niaré, B.; Mochel, F.; La Pean, A.; Rafferty, I.; Watts, C.; Littleton-Kearney, M. T.; Blackstone, C.; Singleton, A.; Fischbeck, K.H.

    2010-01-01

    We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43. PMID:20039086

  13. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

    Science.gov (United States)

    Morgan, Neil V; Westaway, Shawn K; Morton, Jenny E V; Gregory, Allison; Gissen, Paul; Sonek, Scott; Cangul, Hakan; Coryell, Jason; Canham, Natalie; Nardocci, Nardo; Zorzi, Giovanna; Pasha, Shanaz; Rodriguez, Diana; Desguerre, Isabelle; Mubaidin, Amar; Bertini, Enrico; Trembath, Richard C; Simonati, Alessandro; Schanen, Carolyn; Johnson, Colin A; Levinson, Barbara; Woods, C Geoffrey; Wilmot, Beth; Kramer, Patricia; Gitschier, Jane; Maher, Eamonn R; Hayflick, Susan J

    2007-01-01

    Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis. PMID:16783378

  14. Bose-Einstein correlations of charged and neutral kaons in deep inelastic scattering at HERA

    International Nuclear Information System (INIS)

    Chekanov, S.; Derrick, M.; Magill, S.

    2007-05-01

    Bose-Einstein correlations of charged and neutral kaons have been measured in e ± p deep inelastic scattering with an integrated luminosity of 121 pb -1 using the ZEUS detector at HERA. The two-particle correlation function was studied as a function of the four-momentum difference of the kaon pairs, Q 12 =√(-(p 1 -p 2 ) 2 ), assuming a Gaussian shape for the particle source. The values of the radius of the production volume, r, and of the correlation strength, λ, were obtained for both neutral and charged kaons. The radii for charged and neutral kaons are similar and are consistent with those obtained at LEP. (orig.)

  15. Organ-Sparing Marrow-Targeted Irradiation Before Stem Cell Transplant in Treating Patients With High-Risk Hematologic Malignancies

    Science.gov (United States)

    2017-10-09

    Adult Acute Lymphoblastic Leukemia in Remission; Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Lymphoblastic Leukemia; Untreated Adult Acute Myeloid Leukemia

  16. 3-AP and High-Dose Cytarabine in Treating Patients With Advanced Hematologic Malignancies

    Science.gov (United States)

    2013-01-23

    Accelerated Phase Chronic Myelogenous Leukemia; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Blastic Phase Chronic Myelogenous Leukemia; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Relapsing Chronic Myelogenous Leukemia; Secondary Acute Myeloid Leukemia

  17. Bioelectrical Impedance Measurement for Predicting Treatment Outcome in Patients With Newly Diagnosed Acute Leukemia

    Science.gov (United States)

    2018-01-24

    Acute Undifferentiated Leukemia; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Mast Cell Leukemia; Myeloid/NK-cell Acute Leukemia; Untreated Adult Acute Lymphoblastic Leukemia; Untreated Adult Acute Myeloid Leukemia

  18. Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion.

    Science.gov (United States)

    Neilan, Edward; Pikman, Yana; Kimonis, Virginia E

    2006-06-01

    We describe the clinical presentation of a boy with Peters anomaly and a cataract of the left eye in association with multiple midline defects. His extraocular developmental abnormalities include cleft lip and palate, cardiac anomalies, an atretic cranial meningocele, as well as malformation of the left ear with chronic otitis media. Genetic analysis revealed a balanced paracentric inversion of chromosome 4, inv(4)(q12q13.3), also present in his asymptomatic father and siblings. His normal stature and cognitive development distinguish this case from the Peters Plus syndrome. The presence of a cranial meningocele represents a new association with Peters anomaly.

  19. Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Othmane, K.B.; Speer, M.C.; Stauffer, J. [Duke Univ. Medical Center, Durham, NC (United States)] [and others

    1995-09-01

    Duchenne-like muscular dystrophy (DLMD) is an autosomal recessive Limb Girdle muscular dystrophy (LGMD2C) characterized by late age of onset, proximal muscle weakness leading to disability, high creatine kinase values, normal intelligence and normal dystrophin in muscle biopsy. We have shown previously that three DLMD families from Tunisia are linked to chromosome 13q12. To further localize the LGMD2C gene, we have investigated seven additional families (119 individuals). Both genotyping and two-point linkage analysis were performed as described elsewhere. 7 refs., 1 fig., 1 tab.

  20. Dietary long-chain polyunsaturated fatty acids upregulate expression of FADS3 transcripts

    OpenAIRE

    Reardon, Holly T.; Hsieh, Andrea T.; Park, Woo Jung; Kothapalli, Kumar S.D.; Anthony, Joshua C.; Nathanielsz, Peter W.; Brenna, J. Thomas

    2012-01-01

    The fatty acid desaturase (FADS) gene family at 11q12-13.1 includes FADS1 and FADS2, both known to mediate biosynthesis of omega-3 and omega-6 long-chain polyunsaturated fatty acids (LCPUFA). FADS3 is a putative desaturase due to its sequence similarity with FADS1 and FADS2, but its function is unknown. We have previously described 7 FADS3 alternative transcripts (AT) and 1 FADS2 AT conserved across multiple species. This study examined the effect of dietary LCPUFA levels on liver FADS gene e...

  1. Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.

    Science.gov (United States)

    Orr, Nick; Lemnrau, Alina; Cooke, Rosie; Fletcher, Olivia; Tomczyk, Katarzyna; Jones, Michael; Johnson, Nichola; Lord, Christopher J; Mitsopoulos, Costas; Zvelebil, Marketa; McDade, Simon S; Buck, Gemma; Blancher, Christine; Trainer, Alison H; James, Paul A; Bojesen, Stig E; Bokmand, Susanne; Nevanlinna, Heli; Mattson, Johanna; Friedman, Eitan; Laitman, Yael; Palli, Domenico; Masala, Giovanna; Zanna, Ines; Ottini, Laura; Giannini, Giuseppe; Hollestelle, Antoinette; Ouweland, Ans M W van den; Novaković, Srdjan; Krajc, Mateja; Gago-Dominguez, Manuela; Castelao, Jose Esteban; Olsson, Håkan; Hedenfalk, Ingrid; Easton, Douglas F; Pharoah, Paul D P; Dunning, Alison M; Bishop, D Timothy; Neuhausen, Susan L; Steele, Linda; Houlston, Richard S; Garcia-Closas, Montserrat; Ashworth, Alan; Swerdlow, Anthony J

    2012-11-01

    We conducted a genome-wide association study of male breast cancer comprising 823 cases and 2,795 controls of European ancestry, with validation in independent sample sets totaling 438 cases and 474 controls. A SNP in RAD51B at 14q24.1 was significantly associated with male breast cancer risk (P = 3.02 × 10(-13); odds ratio (OR) = 1.57). We also refine association at 16q12.1 to a SNP within TOX3 (P = 3.87 × 10(-15); OR = 1.50).

  2. Untitled

    Indian Academy of Sciences (India)

    Q = I2(r2 - ri), (22 = 208s - O.S.). (A4). Following Singh (1970), we find that the transfer matrix all is given by. - (a) = Z(- d.)Z,(0). (A.5). The elements of the matrix all are (omitting the subscript n). (11) = 2(-rich 0 + r ch (b) Q, (12) = 2(Brish 6-rosh (b) Q, w (13) = 2(-r's sh6 + r. ssh d)), (14) = 20-ch.6+ chd)r r2O,. (21) = 2 (-Sish 6 ...

  3. Inventory of Rare of Endangered Vascular Plants Occurring in the Floodplain of the Mississippi River between Cairo, Illinois, and St. Paul, Minnesota, and in the Floodplain of the Illinois River between Grafton, Illinois, and Chicago,

    Science.gov (United States)

    1975-01-01

    disturbed areas. It flowers from May to August. -:. :i5 1 53 Sesbania exaltata (Raf.) Cory Sesbania Family Leguminosae Status: Rare (Illinois). This is... Leguminosae Statuae Rare (T11inois). UttJt ts recent discovery in 1974 in a sandy prairie near Lock- pot, n .Will County, along the Illinois and Michigan

  4. Presence of C11orf95-MKL2 fusion is a consistent finding in chondroid lipomas : a study of eight cases

    NARCIS (Netherlands)

    Flucke, Uta; Tops, Bastiaan B. J.; Somerhausen, Nicolas de Saint Aubain; Bras, Johannes; Creytens, David H.; Kusters, Benno; Groenen, Patricia J. T. A.; Verdijk, Marian A. J.; Suurmeijer, Albert J. H.; Mentzel, Thomas

    Aims Chondroid lipomas are benign adipose tissue tumours. Their rarity and peculiar morphology can lead to misinterpretation, especially in small biopsies. Based on a recurrent translocation t(11;16)(q13;p13), the C11orf95MKL2 fusion gene has been found in a few cases. Therefore, it seemed

  5. Presence of C11orf95-MKL2 fusion is a consistent finding in chondroid lipomas: a study of eight cases

    NARCIS (Netherlands)

    Flucke, Uta; Tops, Bastiaan B. J.; de Saint Aubain Somerhausen, Nicolas; Bras, Johannes; Creytens, David H.; Küsters, Benno; Groenen, Patricia J. T. A.; Verdijk, Marian A. J.; Suurmeijer, Albert J. H.; Mentzel, Thomas

    2013-01-01

    Chondroid lipomas are benign adipose tissue tumours. Their rarity and peculiar morphology can lead to misinterpretation, especially in small biopsies. Based on a recurrent translocation t(11;16)(q13;p13), the C11orf95-MKL2 fusion gene has been found in a few cases. Therefore, it seemed appropriate

  6. Mission Planning Systems for Tactical Aircraft (Pre-Flight and In- Flight) (Systemes de Planification des Missions pour Avions Tactiques (Avant Vol et en Vol)

    Science.gov (United States)

    1991-05-01

    electronics Communications may yield delays ( they has-c to be encrypted systems or items of communications-equipment when Transmissions may be corrupted ...tactical global soutions Thnis Process takes Into e’lnsiT, 11r 7,1 i Jia nticwork. The pilot interacts with the sysitt using a keybotard,. allow

  7. 50 CFR 32.22 - Arizona.

    Science.gov (United States)

    2010-10-01

    ..., T.11N, R 17W as posted. Exceptions: Arizona Wildlife Management Areas 16A and 44A. D. Sport Fishing... Wildlife Management Areas 16A and 44A in accordance with State regulations subject to the following... include all Service property east of milepost 7 of Arivaca Road within the Arivaca Creek Management Area...

  8. [Unusual ischemic cord compression by discal hernia (author's transl)].

    Science.gov (United States)

    Vergeret, J; Noble, Y; Barat, M; Guérin, J; Arné, L

    The discal hernia are unfrequent in dorsal localization and neurological appearances are deceptive. We report a case with amyotrophic and fasciculations developing a progressive spinal cord amyotrophy aspect. The complementary investigations (gaz myelography and spinal angiography) show the discal hernia in T11-T12 which was operated successfully. The vascular factor role is discussed about semiologic and pathogenic view.

  9. Herpes zoster during pregnancy

    OpenAIRE

    Pupco, Anna; Bozzo, Pina; Koren, Gideon

    2011-01-01

    Question One of my pregnant patients, a 32-year-old woman (gravida 2, para 1), has a flare up of herpes zoster (HZ) at the T11 to T12 dermatomes. This virus, the varicella-zoster virus, causes chickenpox, which can be teratogenic. Is this also true for HZ?

  10. Update on the molecular pathogenesis and clinical treatment of mantle cell lymphoma : report of the 11th annual conference of the European Mantle Cell Lymphoma Network

    NARCIS (Netherlands)

    Dreyling, Martin; Kluin-Nelemans, Hanneke C.; Bea, Silvia; Klapper, Wolfram; Vogt, Niclas; Delfau-Larue, Marie-Helene; Hutter, Grit; Cheah, Chan; Chiappella, Annalisa; Cortelazzo, Sergio; Pott, Christiane; Hess, Georg; Visco, Carlo; Vitolo, Umberto; Klener, Pavel; Aurer, Igor; Unterhalt, Michael; Ribrag, Vincent; Hoster, Eva; Hermine, Olivier

    Mantle cell lymphoma (MCL) is a distinct subtype of malignant lymphoma characterized by the chromosomal translocation t(11;14)(q13;q32), resulting in constitutional overexpression of cyclin D1 and cell cycle dysregulation in virtually all cases. Clinically, MCL displays an aggressive course, with a

  11. Update on the molecular pathogenesis and clinical treatment of mantle cell lymphoma : report of the 10th annual conference of the European Mantle Cell Lymphoma Network

    NARCIS (Netherlands)

    Dreyling, Martin; Kluin-Nelemans, Hanneke C.; Bea, Silvia; Hartmann, Elena; Salaverria, Itziar; Hutter, Grit; Perez-Galan, Patricia; Roue, Gael; Pott, Christiane; Le Gouill, Steven; Cortelazzo, Sergio; Rule, Simon; Hess, Georg; Zaja, Francesco; Vitolo, Umberto; Szymczyk, Michal; Walewski, Jan; Ribrag, Vincent; Unterhalt, Michael; Hermine, Olivier; Hoster, Eva

    2011-01-01

    Mantle cell lymphoma (MCL) is a distinct subtype of malignant lymphoma characterized by the chromosomal translocation t(11;14)(q13;q32), resulting in constitutional overexpression of cyclin D1 and cell cycle dysregulation in virtually all cases. Clinically, MCL shows an aggressive clinical course

  12. Inside the neutrino cave, close to the target complex

    CERN Multimedia

    CERN PhotoLab

    1976-01-01

    The photo shows on the left the shielding of the target complex, T9 and T11 for the wide and narrow beams. The direction of the primary proton beam faces the camera. Between the shielding and the cave wall are housed the magnets cooling pipes. The pulley block allows displacements inside the shielding.

  13. Blastoid Variant Mantle Cell Lymphoma with Complex Karyotype Including 11q Duplication

    Directory of Open Access Journals (Sweden)

    Özge Özer

    2014-09-01

    Full Text Available We describe a case of blastoid mantle cell lymphoma with a complex karyotype. The blastoid variant is a rare type of non-Hodgkin lymphoma exhibiting an aggressive clinical course. Mantle cell lymphoma is a distinct entity of mature B-cell neoplasms genetically characterized by the presence of t(11;14. In the present case, conventional analysis revealed structural abnormalities of chromosomes 2, 4, 6, 10, 13, and 19, along with 3 additional marker chromosomes. The derivative 1 chromosome determined in the case was a result of t(1p;11q. Our interesting finding was the presence of a different translocation between 11q and chromosome 1 in addition to t(11;14. Thus, the resulting 11q duplication was believed to additionally increase the enhanced expression of cyclin D1 gene, which is responsible in the pathogenesis of the disease. Fluorescence in situ hybridization method by the t(11;14 probe revealed clonal numerical abnormalities of chromosomes 11 and 14 in some cells. The detection of multiple abnormalities explains the bad prognosis in the present case. On the basis of our findings, we can easily conclude that results of cytogenetic analyses of similar mantle cell lymphoma patients would provide clues about new responsible gene regions and disease prognosis. In conclusion, it has been suggested that the presence of multiple chromosomal aberrations in addition to the specific t(11;14 may have a negative impact on clinical course and survival rate.

  14. Serach for polarization effects in the antiproton production process

    CERN Multimedia

    It is proposed to study polarization effects in the production of antiprotons at the PS test beam line T11 at 3.5 GeV/c momentum. A polarization in the production process has never been studied but if existing it would allow for a rather simple and cheap way to generate a polarized antiproton beam with the existing facilities at CERN.

  15. Concomitant lower thoracic spine disc disease in lumbar spine MR imaging studies.

    Science.gov (United States)

    Arana, Estanislao; Martí-Bonmatí, Luis; Dosdá, Rosa; Mollá, Enrique

    2002-11-01

    Our objective was to study the coexistence of lower thoracic-spine disc changes in patients with low back pain using a large field of view (FOV) in lumbar spine MR imaging. One hundred fifty patients with low back pain were referred to an MR examination. All patients were studied with a large FOV (27 cm), covering from the coccyx to at least the body of T11. Discs were coded as normal, protrusion, and extrusion (either epiphyseal or intervertebral). The relationship between disc disease and level was established with the Pearson chi(2) test. The T11-12 was the most commonly affected level of the lower thoracic spine with 58 disc cases rated as abnormal. Abnormalities of T11-12 and T12-L1 discs were significantly related only to L1-L2 disease ( p=0.001 and p=0.004, respectively) but unrelated to other disc disease, patient's gender, and age. No correlation was found between other discs. Magnetic resonance imaging of the lumbar spine can detect a great amount of lower thoracic disease, although its clinical significance remains unknown. A statistically significant relation was found within the thoracolumbar junctional region (T11-L2), reflecting common pathoanatomical changes. The absence of relation with lower lumbar spine discs is probably due to differences in their pathomechanisms.

  16. Concomitant lower thoracic spine disc disease in lumbar spine MR imaging studies

    International Nuclear Information System (INIS)

    Arana, Estanislao; Marti-Bonmati, Luis; Dosda, Rosa; Molla, Enrique

    2002-01-01

    Our objective was to study the coexistence of lower thoracic-spine disc changes in patients with low back pain using a large field of view (FOV) in lumbar spine MR imaging. One hundred fifty patients with low back pain were referred to an MR examination. All patients were studied with a large FOV (27 cm), covering from the coccyx to at least the body of T11. Discs were coded as normal, protrusion, and extrusion (either epiphyseal or intervertebral). The relationship between disc disease and level was established with the Pearson χ 2 test. The T11-12 was the most commonly affected level of the lower thoracic spine with 58 disc cases rated as abnormal. Abnormalities of T11-12 and T12-L1 discs were significantly related only to L1-L2 disease (p=0.001 and p=0.004, respectively) but unrelated to other disc disease, patient's gender, and age. No correlation was found between other discs. Magnetic resonance imaging of the lumbar spine can detect a great amount of lower thoracic disease, although its clinical significance remains unknown. A statistically significant relation was found within the thoracolumbar junctional region (T11-L2), reflecting common pathoanatomical changes. The absence of relation with lower lumbar spine discs is probably due to differences in their pathomechanisms. (orig.)

  17. Untitled

    African Journals Online (AJOL)

    decreases ranged from 25+35.4% in millet - Peart to 65.3t 11.2% in maize - Suwan SR-Y Fermentation progressively reduced the MDA content ... While malting and roasting increased the MDA content, steeping froasting and fermentation reduced the. MDA Content. .... Carcinogenicity of Acetaldehyde and Malonaldehyde,.

  18. Diet, intermediate risk markers and risk of type 2 diabetes

    NARCIS (Netherlands)

    Sluijs, I.|info:eu-repo/dai/nl/314072454

    2011-01-01

    This thesis aimed to study the relation of diet with risk of type 2 diabetes and intermediate risk markers of diabetes. We investigated the effect of cis9, trans11 conjugated linoleic acid (c9,t11 CLA) supplementation on pulse wave velocity and cardiovascular risk factors in a randomized, controlled

  19. Indirect searches for dark matter

    Indian Academy of Sciences (India)

    ... of almost-standard annihilating dark matter have brought along have been discussed. The main sources of uncertainties that affect this kind of searches are also listed. [Report number: Saclay T11/206, CERN-PH-TH/2011-257, extended version in arXiv:1202.1454], [Prepared for the Proceedings of Lepton–Photon 2011, ...

  20. Basic principles of ultrafast Raman loss spectroscopy

    Indian Academy of Sciences (India)

    (k1 − k2) z − (ω1 − ω2)t. )] } ... . (11). The terms within {···} correspond to different signals generated due to the second order nonlinearity. The first two terms in equation 11 correspond to DC field gene- ration, also known as optical rectification. The third and fourth terms correspond to second harmonic generation,.

  1. High magnetic field matching effects in NbN films induced by template grown dense ferromagnetic nanowires arrays

    DEFF Research Database (Denmark)

    Hallet, X.; Mátéfi-Tempfli, Mária; Michotte, S.

    2009-01-01

    magnetic nanowires. Matching effects have been observed up to 2.5 T (11th matching field) and are maintained at low temperature. An appreciable enhancement of the superconducting properties is observed. At low fields, a hysteretic behavior in the magnetoresistance is found, directly related...

  2. Molecular Mechanisms and Diagnosis of Chromosome 22q11.2 Rearrangements

    Science.gov (United States)

    Emanuel, Beverly S.

    2008-01-01

    Several recurrent, constitutional genomic disorders are present on chromosome 22q. These include the translocations and deletions associated with DiGeorge and velocardiofacial syndrome and the translocations that give rise to the recurrent t(11;22) supernumerary der(22) syndrome (Emanuel syndrome). The rearrangement breakpoints on 22q cluster…

  3. PARAPLEGIA AND PREGNANCY – CASE REPORT

    Directory of Open Access Journals (Sweden)

    Črtomir Knap

    2001-11-01

    Full Text Available Background. Fewer women decide for pregnancyand motherhood, therefor the number of new born childrenin Slovenia is decreasing yearly. In spinal cord-injured womenthe decission for pregnancy tends to be even more responsiblefor herself and her obstetrician.Conclusion. In the following article the pregnancy are shownon a women with lesion at T11.

  4. Detection of 11q13 rearrangements in hematologic neoplasias by double-color fluorescence in situ hybridization

    NARCIS (Netherlands)

    Coignet, L J; Schuuring, E; Kibbelaar, R E; Raap, T; Kleiverda, K K; Bertheas, M F; Wiegant, J; Beverstock, G; Kluin, P M

    1996-01-01

    Rearrangements within the chromosome 11q13 region are frequent in hematologic malignancies. 50% of 75% of mantle cell lymphomas (MCLs) carry a translocation t(11;14) (q13;q32). Using Southern blot analysis, a BCL1 breakpoint can be detected in approximately 50% of MCLs. It is not known whether other

  5. Concomitant lower thoracic spine disc disease in lumbar spine MR imaging studies

    Energy Technology Data Exchange (ETDEWEB)

    Arana, Estanislao; Marti-Bonmati, Luis; Dosda, Rosa; Molla, Enrique [Department of Radiology, Quiron Clinic, Avd. Blasco Ibanez, 14, 46010 Valencia (Spain)

    2002-11-01

    Our objective was to study the coexistence of lower thoracic-spine disc changes in patients with low back pain using a large field of view (FOV) in lumbar spine MR imaging. One hundred fifty patients with low back pain were referred to an MR examination. All patients were studied with a large FOV (27 cm), covering from the coccyx to at least the body of T11. Discs were coded as normal, protrusion, and extrusion (either epiphyseal or intervertebral). The relationship between disc disease and level was established with the Pearson {chi}{sup 2} test. The T11-12 was the most commonly affected level of the lower thoracic spine with 58 disc cases rated as abnormal. Abnormalities of T11-12 and T12-L1 discs were significantly related only to L1-L2 disease (p=0.001 and p=0.004, respectively) but unrelated to other disc disease, patient's gender, and age. No correlation was found between other discs. Magnetic resonance imaging of the lumbar spine can detect a great amount of lower thoracic disease, although its clinical significance remains unknown. A statistically significant relation was found within the thoracolumbar junctional region (T11-L2), reflecting common pathoanatomical changes. The absence of relation with lower lumbar spine discs is probably due to differences in their pathomechanisms. (orig.)

  6. evaluation of tomato genotypes for resistance to root-knot

    African Journals Online (AJOL)

    Prof. Adipala Ekwamu

    The 1500 eggs per plant inoculation level resulted in the highest number of eggs, juveniles and fresh root weight. Among the 33 genotypes screened, Tomato Mongal T-11 and Tomato Beef Master were found to be highly resistant to Meloidogyne spp. and also recorded the lowest reproductive factors of 0.71 and 0.53,.

  7. 78 FR 77597 - Safety Zone; Allied PRA-Solid Works, San Diego Bay; San Diego, CA

    Science.gov (United States)

    2013-12-24

    ... SECURITY Coast Guard 33 CFR Part 165 RIN 1625-AA00 Safety Zone; Allied PRA-Solid Works, San Diego Bay; San... the Allied PRA--Solid Works fireworks display, which will be conducted from a barge located southwest....T11-612 Safety zone; Allied PRA-Solid Works; San Diego, CA. (a) Location. The limits of the safety...

  8. 78 FR 48046 - Safety Zone; Kuoni Destination Management Fireworks; San Diego, CA

    Science.gov (United States)

    2013-08-07

    ...-AA00 Safety Zone; Kuoni Destination Management Fireworks; San Diego, CA AGENCY: Coast Guard, DHS... Kuoni Destination Management fireworks event on August 6, 2013. This safety zone is necessary to provide... follows: Sec. 165.T11-583 Safety Zone; Kuoni Destination Management Fireworks; San Diego, CA. (a) Location...

  9. Descriptipn of giant changes of domain sizes in ultrathin magnetic films

    Czech Academy of Sciences Publication Activity Database

    Kisielewski, M.; Maziewski, A.; Zablotskyy, Vitaliy A.

    2004-01-01

    Roč. 282, - (2004), s. 39-43 ISSN 0304-8853 Grant - others:SCSR(PL) 4T11B 006 24 Institutional research plan: CEZ:AV0Z1010914 Keywords : magnetic domains * ultrathin films Subject RIV: BM - Solid Matter Physics ; Magnetism Impact factor: 1.031, year: 2004

  10. Radiographic liver size in Pekingese dogs versus other dog breeds.

    Science.gov (United States)

    Choi, Jihye; Keh, Seoyeon; Kim, Hyunwook; Kim, Junyoung; Yoon, Junghee

    2013-01-01

    Differential diagnoses for canine liver disease are commonly based on radiographic estimates of liver size, however little has been published on breed variations. Aims of this study were to describe normal radiographic liver size in Pekingese dogs and to compare normal measurements for this breed with other dog breeds and Pekingese dogs with liver disease. Liver measurements were compared for clinically normal Pekingese (n = 61), normal non-Pekingese brachycephalic (n = 45), normal nonbrachycephalic (n = 71), and Pekingese breed dogs with liver disease (n = 22). For each dog, body weight, liver length, T11 vertebral length, thoracic depth, and thoracic width were measured on right lateral and ventrodorsal abdominal radiographs. Liver volume was calculated using a formula and ratios of liver length/T11 vertebral length and liver volume/body weight ratio were determined. Normal Pekingese dogs had a significantly smaller liver volume/body weight ratio (16.73 ± 5.67, P dogs (19.54 ± 5.03) and normal nonbrachycephalic breed dogs (18.72 ± 6.52). The liver length/T11 vertebral length ratio in normal Pekingese (4.64 ± 0.65) was significantly smaller than normal non-Pekingese brachycephalic breed dogs (5.16 ± 0.74) and normal nonbrachycephalic breed dogs (5.40 ± 0.74). Ratios of liver volume/body weight and liver length/T11 vertebral length in normal Pekingese were significantly different from Pekingese with liver diseases (P dogs have a smaller normal radiographic liver size than other breeds. We recommend using 4.64× the length of the T11 vertebra as a radiographic criterion for normal liver length in Pekingese dogs. © 2012 Veterinary Radiology & Ultrasound.

  11. Radiological consideration of neurogenic bladder in patients with traumatic spinal injury

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Soo Han; Yu, Yun Jeong; Shin, Hyun Ja [Korea Veterans Hospital, Seoul (Korea, Republic of)

    1987-10-15

    We evaluated 104 patients of neurogenic bladder secondary to traumatic spinal cord injury. Those were diagnosed by I. V. P. and V. C. U. at Korea Veterans Hospital during 9 years from January, 1978 to May, 1987. The type of neurogenic bladder, complications and urethral configuration, according to the level of spinal cord injury were discusses. The result were as follows: 1. The incidence of patient according to the level of spinal cord injury was 49 out of 104 in those with vertebral level T7 or above, 15 out of 104 in those with T8-T10 level, and 40 in those with vertebral level T11 or below. The incidence of UMNB was 67.3% in those with vertebral T7 or above, 53.3% in T8-T10. The incidence of LMNB was 62.5% in those with vertebral level T11 or below. 2. Overall incidence of urinary tract calculus was 32.7%. Highest incidence of calculus was 46.7% in those with vertebral level T8-T10. 3. Overall incidence of vesicoureteral reflux was 23.1%. Highest incidence of reflux was 46.7% in those with vertebral level T11 or below. 4. Overall incidence of pyelonephritis was 26.9%. 5. Overall incidence of hydronephrosis was 20.2%. Highest incidence of hydronephrosis was 27.5% in those with vertebral level T11 or below. 6. Almost entire urethra was shown funnel type in 66 out of 73 cases. Saccular dilatation of posterior urethra was 7 cases. Saccular dilatation of posterior urethra with LMNB was 4 cases, which were occurred only in those with vertebral level T11 or below.

  12. Radiological consideration of neurogenic bladder in patients with traumatic spinal injury

    International Nuclear Information System (INIS)

    Kim, Soo Han; Yu, Yun Jeong; Shin, Hyun Ja

    1987-01-01

    We evaluated 104 patients of neurogenic bladder secondary to traumatic spinal cord injury. Those were diagnosed by I. V. P. and V. C. U. at Korea Veterans Hospital during 9 years from January, 1978 to May, 1987. The type of neurogenic bladder, complications and urethral configuration, according to the level of spinal cord injury were discusses. The result were as follows: 1. The incidence of patient according to the level of spinal cord injury was 49 out of 104 in those with vertebral level T7 or above, 15 out of 104 in those with T8-T10 level, and 40 in those with vertebral level T11 or below. The incidence of UMNB was 67.3% in those with vertebral T7 or above, 53.3% in T8-T10. The incidence of LMNB was 62.5% in those with vertebral level T11 or below. 2. Overall incidence of urinary tract calculus was 32.7%. Highest incidence of calculus was 46.7% in those with vertebral level T8-T10. 3. Overall incidence of vesicoureteral reflux was 23.1%. Highest incidence of reflux was 46.7% in those with vertebral level T11 or below. 4. Overall incidence of pyelonephritis was 26.9%. 5. Overall incidence of hydronephrosis was 20.2%. Highest incidence of hydronephrosis was 27.5% in those with vertebral level T11 or below. 6. Almost entire urethra was shown funnel type in 66 out of 73 cases. Saccular dilatation of posterior urethra was 7 cases. Saccular dilatation of posterior urethra with LMNB was 4 cases, which were occurred only in those with vertebral level T11 or below

  13. Construction of an infectious cDNA clone of genotype 1 avian hepatitis E virus: characterization of its pathogenicity in broiler breeders and demonstration of its utility in studying the role of the hypervariable region in virus replication.

    Science.gov (United States)

    Park, Soo-Jeong; Lee, Byung-Woo; Moon, Hyun-Woo; Sung, Haan Woo; Yoon, Byung-Il; Meng, Xiang-Jin; Kwon, Hyuk Moo

    2015-05-01

    A full-length infectious cDNA clone of the genotype 1 Korean avian hepatitis E virus (avian HEV) (pT11-aHEV-K) was constructed and its infectivity and pathogenicity were investigated in leghorn male hepatoma (LMH) chicken cells and broiler breeders. We demonstrated that capped RNA transcripts from the pT11-aHEV-K clone were translation competent when transfected into LMH cells and infectious when injected intrahepatically into the livers of chickens. Gross and microscopic pathological lesions underpinned the avian HEV infection and helped characterize its pathogenicity in broiler breeder chickens. The avian HEV genome contains a hypervariable region (HVR) in ORF1. To demonstrate the utility of the avian HEV infectious clone, several mutants with various deletions in and beyond the known HVR were derived from the pT11-aHEV-K clone. The HVR-deletion mutants were replication competent in LMH cells, although the deletion mutants extending beyond the known HVR were non-viable. By using the pT11-aHEV-K infectious clone as the backbone, an avian HEV luciferase reporter replicon and HVR-deletion mutant replicons were also generated. The luciferase assay results of the reporter replicon and its mutants support the data obtained from the infectious clone and its derived mutants. To further determine the effect of HVR deletion on virus replication, the capped RNA transcripts from the wild-type pT11-aHEV-K clone and its mutants were injected intrahepatically into chickens. The HVR-deletion mutants that were translation competent in LMH cells displayed in chickens an attenuation phenotype of avian HEV infectivity, suggesting that the avian HEV HVR is important in modulating the virus infectivity and pathogenicity. © 2015 The Authors.

  14. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

    Science.gov (United States)

    Phelan, Catherine M; Kuchenbaecker, Karoline B; Tyrer, Jonathan P; Kar, Siddhartha P; Lawrenson, Kate; Winham, Stacey J; Dennis, Joe; Pirie, Ailith; Riggan, Marjorie J; Chornokur, Ganna; Earp, Madalene A; Lyra, Paulo C; Lee, Janet M; Coetzee, Simon; Beesley, Jonathan; McGuffog, Lesley; Soucy, Penny; Dicks, Ed; Lee, Andrew; Barrowdale, Daniel; Lecarpentier, Julie; Leslie, Goska; Aalfs, Cora M; Aben, Katja K H; Adams, Marcia; Adlard, Julian; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia; Aravantinos, Gerasimos; Arnold, Norbert; Arun, Banu K; Arver, Brita; Azzollini, Jacopo; Balmaña, Judith; Banerjee, Susana N; Barjhoux, Laure; Barkardottir, Rosa B; Bean, Yukie; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; Bernardini, Marcus Q; Birrer, Michael J; Bjorge, Line; Black, Amanda; Blankstein, Kenneth; Blok, Marinus J; Bodelon, Clara; Bogdanova, Natalia; Bojesen, Anders; Bonanni, Bernardo; Borg, Åke; Bradbury, Angela R; Brenton, James D; Brewer, Carole; Brinton, Louise; Broberg, Per; Brooks-Wilson, Angela; Bruinsma, Fiona; Brunet, Joan; Buecher, Bruno; Butzow, Ralf; Buys, Saundra S; Caldes, Trinidad; Caligo, Maria A; Campbell, Ian; Cannioto, Rikki; Carney, Michael E; Cescon, Terence; Chan, Salina B; Chang-Claude, Jenny; Chanock, Stephen; Chen, Xiao Qing; Chiew, Yoke-Eng; Chiquette, Jocelyne; Chung, Wendy K; Claes, Kathleen B M; Conner, Thomas; Cook, Linda S; Cook, Jackie; Cramer, Daniel W; Cunningham, Julie M; D'Aloisio, Aimee A; Daly, Mary B; Damiola, Francesca; Damirovna, Sakaeva Dina; Dansonka-Mieszkowska, Agnieszka; Dao, Fanny; Davidson, Rosemarie; DeFazio, Anna; Delnatte, Capucine; Doheny, Kimberly F; Diez, Orland; Ding, Yuan Chun; Doherty, Jennifer Anne; Domchek, Susan M; Dorfling, Cecilia M; Dörk, Thilo; Dossus, Laure; Duran, Mercedes; Dürst, Matthias; Dworniczak, Bernd; Eccles, Diana; Edwards, Todd; Eeles, Ros; Eilber, Ursula; Ejlertsen, Bent; Ekici, Arif B; Ellis, Steve; Elvira, Mingajeva; Eng, Kevin H; Engel, Christoph; Evans, D Gareth; Fasching, Peter A; Ferguson, Sarah; Ferrer, Sandra Fert; Flanagan, James M; Fogarty, Zachary C; Fortner, Renée T; Fostira, Florentia; Foulkes, William D; Fountzilas, George; Fridley, Brooke L; Friebel, Tara M; Friedman, Eitan; Frost, Debra; Ganz, Patricia A; Garber, Judy; García, María J; Garcia-Barberan, Vanesa; Gehrig, Andrea; Gentry-Maharaj, Aleksandra; Gerdes, Anne-Marie; Giles, Graham G; Glasspool, Rosalind; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; Goranova, Teodora; Gore, Martin; Greene, Mark H; Gronwald, Jacek; Gruber, Stephen; Hahnen, Eric; Haiman, Christopher A; Håkansson, Niclas; Hamann, Ute; Hansen, Thomas V O; Harrington, Patricia A; Harris, Holly R; Hauke, Jan; Hein, Alexander; Henderson, Alex; Hildebrandt, Michelle A T; Hillemanns, Peter; Hodgson, Shirley; Høgdall, Claus K; Høgdall, Estrid; Hogervorst, Frans B L; Holland, Helene; Hooning, Maartje J; Hosking, Karen; Huang, Ruea-Yea; Hulick, Peter J; Hung, Jillian; Hunter, David J; Huntsman, David G; Huzarski, Tomasz; Imyanitov, Evgeny N; Isaacs, Claudine; Iversen, Edwin S; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jernetz, Mats; Jensen, Allan; Jensen, Uffe Birk; John, Esther M; Johnatty, Sharon; Jones, Michael E; Kannisto, Päivi; Karlan, Beth Y; Karnezis, Anthony; Kast, Karin; Kennedy, Catherine J; Khusnutdinova, Elza; Kiemeney, Lambertus A; Kiiski, Johanna I; Kim, Sung-Won; Kjaer, Susanne K; Köbel, Martin; Kopperud, Reidun K; Kruse, Torben A; Kupryjanczyk, Jolanta; Kwong, Ava; Laitman, Yael; Lambrechts, Diether; Larrañaga, Nerea; Larson, Melissa C; Lazaro, Conxi; Le, Nhu D; Le Marchand, Loic; Lee, Jong Won; Lele, Shashikant B; Leminen, Arto; Leroux, Dominique; Lester, Jenny; Lesueur, Fabienne; Levine, Douglas A; Liang, Dong; Liebrich, Clemens; Lilyquist, Jenna; Lipworth, Loren; Lissowska, Jolanta; Lu, Karen H; Lubinński, Jan; Luccarini, Craig; Lundvall, Lene; Mai, Phuong L; Mendoza-Fandiño, Gustavo; Manoukian, Siranoush; Massuger, Leon F A G; May, Taymaa; Mazoyer, Sylvie; McAlpine, Jessica N; McGuire, Valerie; McLaughlin, John R; McNeish, Iain; Meijers-Heijboer, Hanne; Meindl, Alfons; Menon, Usha; Mensenkamp, Arjen R; Merritt, Melissa A; Milne, Roger L; Mitchell, Gillian; Modugno, Francesmary; Moes-Sosnowska, Joanna; Moffitt, Melissa; Montagna, Marco; Moysich, Kirsten B; Mulligan, Anna Marie; Musinsky, Jacob; Nathanson, Katherine L; Nedergaard, Lotte; Ness, Roberta B; Neuhausen, Susan L; Nevanlinna, Heli; Niederacher, Dieter; Nussbaum, Robert L; Odunsi, Kunle; Olah, Edith; Olopade, Olufunmilayo I; Olsson, Håkan; Olswold, Curtis; O'Malley, David M; Ong, Kai-Ren; Onland-Moret, N Charlotte; Orr, Nicholas; Orsulic, Sandra; Osorio, Ana; Palli, Domenico; Papi, Laura; Park-Simon, Tjoung-Won; Paul, James; Pearce, Celeste L; Pedersen, Inge Søkilde; Peeters, Petra H M; Peissel, Bernard; Peixoto, Ana; Pejovic, Tanja; Pelttari, Liisa M; Permuth, Jennifer B; Peterlongo, Paolo; Pezzani, Lidia; Pfeiler, Georg; Phillips, Kelly-Anne; Piedmonte, Marion; Pike, Malcolm C; Piskorz, Anna M; Poblete, Samantha R; Pocza, Timea; Poole, Elizabeth M; Poppe, Bruce; Porteous, Mary E; Prieur, Fabienne; Prokofyeva, Darya; Pugh, Elizabeth; Pujana, Miquel Angel; Pujol, Pascal; Radice, Paolo; Rantala, Johanna; Rappaport-Fuerhauser, Christine; Rennert, Gad; Rhiem, Kerstin; Rice, Patricia; Richardson, Andrea; Robson, Mark; Rodriguez, Gustavo C; Rodríguez-Antona, Cristina; Romm, Jane; Rookus, Matti A; Rossing, Mary Anne; Rothstein, Joseph H; Rudolph, Anja; Runnebaum, Ingo B; Salvesen, Helga B; Sandler, Dale P; Schoemaker, Minouk J; Senter, Leigha; Setiawan, V Wendy; Severi, Gianluca; Sharma, Priyanka; Shelford, Tameka; Siddiqui, Nadeem; Side, Lucy E; Sieh, Weiva; Singer, Christian F; Sobol, Hagay; Song, Honglin; Southey, Melissa C; Spurdle, Amanda B; Stadler, Zsofia; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Sucheston-Campbell, Lara E; Sukiennicki, Grzegorz; Sutphen, Rebecca; Sutter, Christian; Swerdlow, Anthony J; Szabo, Csilla I; Szafron, Lukasz; Tan, Yen Y; Taylor, Jack A; Tea, Muy-Kheng; Teixeira, Manuel R; Teo, Soo-Hwang; Terry, Kathryn L; Thompson, Pamela J; Thomsen, Liv Cecilie Vestrheim; Thull, Darcy L; Tihomirova, Laima; Tinker, Anna V; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Tone, Alicia; Trabert, Britton; Travis, Ruth C; Trichopoulou, Antonia; Tung, Nadine; Tworoger, Shelley S; van Altena, Anne M; Van Den Berg, David; van der Hout, Annemarie H; van der Luijt, Rob B; Van Heetvelde, Mattias; Van Nieuwenhuysen, Els; van Rensburg, Elizabeth J; Vanderstichele, Adriaan; Varon-Mateeva, Raymonda; Vega, Ana; Edwards, Digna Velez; Vergote, Ignace; Vierkant, Robert A; Vijai, Joseph; Vratimos, Athanassios; Walker, Lisa; Walsh, Christine; Wand, Dorothea; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Webb, Penelope M; Weinberg, Clarice R; Weitzel, Jeffrey N; Wentzensen, Nicolas; Whittemore, Alice S; Wijnen, Juul T; Wilkens, Lynne R; Wolk, Alicja; Woo, Michelle; Wu, Xifeng; Wu, Anna H; Yang, Hannah; Yannoukakos, Drakoulis; Ziogas, Argyrios; Zorn, Kristin K; Narod, Steven A; Easton, Douglas F; Amos, Christopher I; Schildkraut, Joellen M; Ramus, Susan J; Ottini, Laura; Goodman, Marc T; Park, Sue K; Kelemen, Linda E; Risch, Harvey A; Thomassen, Mads; Offit, Kenneth; Simard, Jacques; Schmutzler, Rita Katharina; Hazelett, Dennis; Monteiro, Alvaro N; Couch, Fergus J; Berchuck, Andrew; Chenevix-Trench, Georgia; Goode, Ellen L; Sellers, Thomas A; Gayther, Simon A; Antoniou, Antonis C; Pharoah, Paul D P

    2017-05-01

    To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified three additional susceptibility loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.

  15. Optimization of Xylanase Production through Response Surface Methodology by Fusarium sp. BVKT R2 Isolated from forest soil and its applications in saccharification

    Directory of Open Access Journals (Sweden)

    Ramanjaneyulu Golla

    2016-09-01

    Full Text Available AbstractXylanses are hydrolytic enzymes with wide applications in several industries like biofuels, paper and pulp, deinking, food and feed. The present study was aimed at hitting at high yield xylanase producing fungi from natural resources. Two highest xylanase producing fungal isolates - Q12 and L1were picked from collection of 450 fungal cultures for the utilization of xylan. These fungal isolates - Q12 and L1 were identified basing on ITS gene sequencing analysis as Fusarium sp. BVKT R2 (KT119615 and Fusarium strain BRR R6 (KT119619, respectively with construction of phylogenetic trees. Fusarium sp. BVKT R2 was further optimized for maximum xylanase production and the interaction effects between variables on production of xylanase were studied through response surface methodology. The optimal conditions for maximal production of xylanase were sorbitol 1.5%, yeast extract 1.5%, pH of 5.0, Temperature of 32.5ºC, and agitation of 175 rpm. Under optimal conditions, the yields of xylanase production by Fusarium sp. BVKT R2 was as high as 4560 U/ml in SmF. Incubation of different lignocellulosic biomasses with crude enzyme of Fusarium sp. BVKT R2 at 37°C for 72 h could achieve about 45% saccharification. The results suggest that Fusarium sp. BVKT R2 has potential applications in saccharification process of biomass.Key words: Fusarium sp., Optimization, Response Surface Methodology, Saccharification, Submerged fermentation, Xylanase

  16. Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome.

    Science.gov (United States)

    Haeri, Sina; Devers, Patricia L; Kaiser-Rogers, Kathleen A; Moylan, Vincent J; Torchia, Beth S; Horton, Amanda L; Wolfe, Honor M; Aylsworth, Arthur S

    2010-08-01

    Prune belly syndrome is a rare congenital disorder characterized by deficiency of abdominal wall muscles, cryptorchidism, and urinary tract anomalies. We have had the opportunity to study a baby with prune belly syndrome associated with an apparently de novo 1.3-megabase interstitial 17q12 microdeletion that includes the hepatocyte nuclear factor-1-beta gene at 17q12. One previous patient, an adult, has been reported with prune belly syndrome and a hepatocyte nuclear factor-1-beta microdeletion. Hepatocyte nuclear factor-1-beta is a widely expressed transcription factor that regulates tissue-specific gene expression and is expressed in numerous tissues including mesonephric duct derivatives, the renal tubule of the metanephros, and the developing prostate of the mouse. Mutations in hepatocyte nuclear factor-1-beta cause the "renal cysts and diabetes syndrome," isolated renal cystic dysplasia, and a variety of other malformations. Based on its expression pattern and the observation of two affected cases, we propose that haploinsufficiency of hepatocyte nuclear factor-1-beta may be causally related to the production of the prune belly syndrome phenotype through a mechanism of prostatic and ureteral hypoplasia that results in severe obstructive uropathy with urinary tract and abdominal distension. Copyright Thieme Medical Publishers.

  17. Effect of the use of carprofen in dogs undergoing intense rehabilitation after lateral fabellar suture stabilization.

    Science.gov (United States)

    Gordon-Evans, Wanda J; Dunning, Diane; Johnson, Ann L; Knap, Kim E

    2011-07-01

    To determine whether carprofen, a commercially available NSAID, would decrease perceived exertion and signs of pain in dogs and therefore increase muscle mass and hind limb function without decreasing range of motion after lateral fabellar suture stabilization. Randomized, blinded, controlled clinical trial. 35 dogs with cranial cruciate ligament rupture and lateral fabellar suture stabilization followed by rehabilitation. All dogs underwent surgical stabilization of cranial cruciate ligament rupture by placement of a lateral fabellar suture. Dogs received carprofen (2.2 mg/kg [1 mg/lb], PO, q 12 h) for the first 7 days after surgery and underwent concentrated rehabilitation exercises during weeks 3, 5, and 7 after surgery. Eighteen dogs also received carprofen (2.2 mg/kg, PO, q 12 h) during the weeks of concentrated rehabilitation. Outcomes were measured by a single investigator, who was blinded to group assignments, using pressure platform gait analysis, goniometry, thigh circumference, and mean workout speed at a consistent level of exertion. There were no differences between the 2 groups in ground reaction forces, thigh circumference, or exertion (mean workout speed) over time or at any individual time point. However, both groups improved significantly over time for all outcome measures. Providing carprofen to dogs during concentrated rehabilitation after lateral fabellar suture stabilization did not improve hind limb function, range of motion, or thigh circumference, nor did it decrease perceived exertion, compared with control dogs. Carprofen was not a compulsory component of a physical therapy regimen after lateral fabellar suture stabilization.

  18. Comparative Genomic Hybridization of Human Malignant Gliomas Reveals Multiple Amplification Sites and Nonrandom Chromosomal Gains and Losses

    Science.gov (United States)

    Schròck, Evelin; Thiel, Gundula; Lozanova, Tanka; du Manoir, Stanislas; Meffert, Marie-Christine; Jauch, Anna; Speicher, Michael R.; Nürnberg, Peter; Vogel, Siegfried; Janisch, Werner; Donis-Keller, Helen; Ried, Thomas; Witkowski, Regine; Cremer, Thomas

    1994-01-01

    Nine human malignant gliomas (2 astrocytomas grade III and 7 glioblastomas) were analyzed using comparative genomic hybridization (CGH). In addition to the amplification of the EGFR gene at 7p12 in 4 of 9 cases, six new amplification sites were mapped to 1q32, 4q12, 7q21.1, 7q21.2-3, 12p, and 22q12. Nonrandom chromosomal gains and losses were identified with overrepresentation of chromosome 7 and underrepresentation of chromosome 10 as the most frequent events (1 of 2 astrocytomas, 7 of 7 glioblastomas). Gain of a part or the whole chromosome 19 and losses of chromosome bands 9pter-23 and 22q13 were detected each in five cases. Loss of chromosome band 17p13 and gain of chromosome 20 were revealed each in three cases. The validity of the CGH data was confirmed using interphase cytogenetics with YAC clones, chromosome painting in tumor metaphase spreads, and DNA fingerprinting. A comparison of CGH data with the results of chromosome banding analyses indicates that metaphase spreads accessible in primary tumor cell cultures may not represent the clones predominant in the tumor tissue ImagesFigure 1Figure 4Figure 6 PMID:8203461

  19. Population pharmacokinetics of ceftaroline in patients with acute bacterial skin and skin structure infections or community-acquired bacterial pneumonia.

    Science.gov (United States)

    Van Wart, Scott A; Forrest, Alan; Khariton, Tatiana; Rubino, Christopher M; Bhavnani, Sujata M; Reynolds, Daniel K; Riccobene, Todd; Ambrose, Paul G

    2013-11-01

    Ceftaroline, the active form of ceftaroline fosamil, is a broad-spectrum cephalosporin antibiotic. A population pharmacokinetic (PPK) model for ceftaroline was developed in NONMEM® using data from 185 healthy subjects and 92 patients with acute bacterial skin and skin structure infection (ABSSSI). Data from 128 patients with community-acquired bacterial pneumonia (CABP) were used for external model validation. Healthy subjects received 50-2,000 mg ceftaroline fosamil via intravenous (IV) infusion over 1 hour or intramuscular (IM) injection q12h or q24h. ABSSSI and CABP patients received 600 mg of ceftaroline fosamil IV over 1 hour q12h. A three-compartment model with zero-order IV or parallel first-order IM input and first-order elimination described ceftaroline fosamil PK. A two-compartment model with first-order conversion of prodrug to ceftaroline and parallel linear and saturable elimination described ceftaroline PK. Creatinine clearance was the primary determinant of ceftaroline exposure. Good agreement between the observed data and both population (r(2)  = 0.93) and individual post-hoc (r(2)  = 0.98) predictions suggests the PPK model can adequately approximate ceftaroline PK using covariate information. Such a PPK model can evaluate dose adjustments for patients with renal impairment and generate ceftaroline exposures for use in pharmacokinetic-pharmacodynamic assessments of efficacy in patients with ABSSSI or CABP. © 2013, The American College of Clinical Pharmacology.

  20. [Detection of a fetus with paternally derived 2q37.3 microdeletion and 20p13p12.2 microduplication using whole genome microarray technology].

    Science.gov (United States)

    Zhang, Lin; Ren, Meihong; Song, Guining; Liu, Xuexia; Wang, Jianliu; Zhang, Xiaohong

    2016-12-10

    To perform prenatal diagnosis for a fetus with multiple malformations. The fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis. Fetal ultrasound at 28+4 weeks has indicated intrauterine growth restriction, left kidney agenesis, right kidney dysplasia, ventricular septal defect, and polyhydramnios. Chromosomal analysis showed that the fetus has a karyotype of 46,XY,der(2),der(20), t(2;20)(q37.3;p12.2), t(5;15) (q12.2;q25) pat. SNP array analysis confirmed that the fetus has a 5.283 Mb deletion at 2q37.3 and a 11.641 Mb duplication at 20p13p12.2. High-resolution chromosome analysis suggested that the father has a karyotype of 46,XY,t(2;20)(q37.3;p12.2),t(5;15)(q12.2;q25), while the mother has a normal karyotype. The abnormal phenotype of the fetus may be attributed to a 2q37.3 microdeletion and a 20p13p12.2 microduplication. The father has carried a complex translocation involving four chromosomes. To increase the chance for successful pregnancy, genetic diagnosis and/or assisted reproductive technology are warranted.

  1. Chronic intestinal pseudo-obstruction associated with enteric ganglionitis in a Persian cat

    Directory of Open Access Journals (Sweden)

    Jeremy Mortier

    2016-06-01

    Full Text Available Case summary A 7-year-old neutered male Persian cat was presented for acute vomiting and inappetence. Physical examination revealed severe abdominal distension. Radiographs demonstrated pneumoperitoneum, megaoesophagus and generalised gaseous distension of the digestive tract. Exploratory coeliotomy was performed, revealing markedly distended and thickened small and large intestines with no observable peristalsis. No intestinal perforation was present. Bacteriological and cytological analysis of abdominal fluid revealed a septic peritonitis involving Pasteurella multocida . Full-thickness intestinal biopsies demonstrated lymphocytic ganglioneuritis localised to the enteric nervous system, in association with glandular atrophy and muscular layer hypertrophy. Amoxicillin-clavulanate and analgesics were given. The cat’s general condition gradually improved after the addition of pyridostigmine bromide (0.5 mg/kg q12h PO, initiated 3 days postsurgery. Vomiting resolved and did not recur. Follow-up radiographs at 15 days, and 1 and 6 months showed persistent intestinal ileus, milder than on the pretreatment radiographs. Thirty months after presentation the cat is still alive, without clinical signs, and receives 1 mg/kg q12h pyridostigmine. Relevance and novel information To our knowledge, this is the first case of ganglioneuritis of the myenteric plexus described in cats, as well as the first one successfully treated with pyridostigmine. Chronic intestinal pseudo-obstruction is a very rare condition in cats but should be included in the differential diagnosis of generalised gastrointestinal ileus.

  2. Novel genetic findings in an extended family pedigree with sleepwalking.

    Science.gov (United States)

    Licis, A K; Desruisseau, D M; Yamada, K A; Duntley, S P; Gurnett, C A

    2011-01-04

    Sleepwalking is a common and highly heritable sleep disorder. However, inheritance patterns of sleepwalking are poorly understood and there have been no prior reports of genes or chromosomal localization of genes responsible for this disorder. To describe the inheritance pattern of sleepwalking in a 4-generation family and to identify the chromosomal location of a gene responsible for sleepwalking in this family. Nine affected and 13 unaffected family members of a single large family were interviewed and DNA samples collected. Parametric linkage analysis was performed. Sleepwalking was inherited as an autosomal dominant disorder with reduced penetrance in this family. Genome-wide multipoint parametric linkage analysis for sleepwalking revealed a maximum logarithm of the odds score of 3.44 at chromosome 20q12-q13.12 between 55.6 and 61.4 cM. Sleepwalking may be transmitted as an autosomal dominant trait with reduced penetrance. Here we describe the first genetic locus for sleepwalking at chromosome 20q12-q13.12.

  3. Analgesic effects of intramuscular administration of meloxicam in Hispaniolan parrots (Amazona ventralis) with experimentally induced arthritis.

    Science.gov (United States)

    Cole, Gretchen A; Paul-Murphy, Joanne; Krugner-Higby, Lisa; Klauer, Julia M; Medlin, Scott E; Keuler, Nicholas S; Sladky, Kurt K

    2009-12-01

    OBJECTIVE-To evaluate the analgesic efficacy of meloxicam in parrots with experimentally induced arthritis, with extent of weight bearing and rotational perch walking used as outcome measures. ANIMALS-15 adult Hispaniolan parrots (Amazona ventralis). PROCEDURES-Arthritis was experimentally induced via intra-articular injection of microcrystalline sodium urate suspension (MSU) into 1 intertarsal joint. Parrots were treated in a crossover design. Five treatments were compared as follows: meloxicam (4 dosages) at 0.05, 0.1, 0.5, and 1.0 mg/kg (IM, q 12 h, 3 times) and 0.03 mL of saline (0.9% NaCl) solution (IM, q 12 h, 3 times). The first treatment was given 6 hours following MSU administration. Lameness was assessed by use of a biomechanical perch to record weight-bearing load and a rotational perch to determine dexterity. Feces were collected to assay for occult blood. RESULTS-Parrots treated with meloxicam at 1.0 mg/kg had significantly better return to normal (baseline) weight bearing on the arthritic pelvic limb, compared with control parrots or parrots treated with meloxicam at 0.05, 0.1, and 0.5 mg/kg. All fecal samples collected from parrots following induction of arthritis and treatment with meloxicam had negative results for occult blood. CONCLUSIONS AND CLINICAL RELEVANCE-Meloxicam administered at 1.0 mg/kg, IM, every 12 hours effectively relieved arthritic pain in parrots.

  4. Cationic gemini surfactants with cleavable spacer: chemical hydrolysis, biodegradation, and toxicity.

    Science.gov (United States)

    Tehrani-Bagha, A R; Holmberg, K; van Ginkel, C G; Kean, M

    2015-07-01

    The paper describes synthesis and characterization of a new type of cationic gemini surfactant, which has dodecyl tails and a spacer that contains an ester bond. The nomenclature used to describe the structure is 12Q2OCO1Q12, with Q being a quaternary ammonium group and the numbers indicating the number of methylene or methyl groups. Due to the close proximity to the two quaternary ammonium groups, the ester bond is very stable on the acid side and very labile already at slightly alkaline conditions. The hydrolysis products are two single chain surfactants (i.e. 12Q2OH and 12Q1COOH) which are less surface active than the intact gemini surfactant. 12Q2OCO1Q12 was found to be readily biodegradable, i.e. it gave more than 60% biodegradation after 28 days. This is interesting because similar gemini surfactants but with ester bonds in the tails instead of the spacer, have previously been found not to be readily biodegradable. The gemini surfactant was found to be toxic to aquatic organisms (ErC50 value of 0.27 mg/l), although less toxic than the two hydrolysis products. Copyright © 2014 Elsevier Inc. All rights reserved.

  5. Identification of twelve new susceptibility loci for different histotypes of epithelial ovarian cancer

    Science.gov (United States)

    Phelan, Catherine M.; Kuchenbaecker, Karoline B.; Tyrer, Jonathan P.; Kar, Siddhartha P.; Lawrenson, Kate; Winham, Stacey J.; Dennis, Joe; Pirie, Ailith; Riggan, Marjorie; Chornokur, Ganna; Earp, Madalene A.; Lyra, Paulo C.; Lee, Janet M.; Coetzee, Simon; Beesley, Jonathan; McGuffog, Lesley; Soucy, Penny; Dicks, Ed; Lee, Andrew; Barrowdale, Daniel; Lecarpentier, Julie; Leslie, Goska; Aalfs, Cora M.; Aben, Katja K.H.; Adams, Marcia; Adlard, Julian; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia; Aravantinos, Gerasimos; Arnold, Norbert; Arun, Banu K.; Arver, Brita; Azzollini, Jacopo; Balmaña, Judith; Banerjee, Susana N.; Barjhoux, Laure; Barkardottir, Rosa B.; Bean, Yukie; Beckmann, Matthias W.; Beeghly-Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; Bernardini, Marcus Q.; Birrer, Michael J.; Bjorge, Line; Black, Amanda; Blankstein, Kenneth; Blok, Marinus J.; Bodelon, Clara; Bogdanova, Natalia; Bojesen, Anders; Bonanni, Bernardo; Borg, Åke; Bradbury, Angela R.; Brenton, James D.; Brewer, Carole; Brinton, Louise; Broberg, Per; Brooks-Wilson, Angela; Bruinsma, Fiona; Brunet, Joan; Buecher, Bruno; Butzow, Ralf; Buys, Saundra S.; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Cannioto, Rikki; Carney, Michael E.; Cescon, Terence; Chan, Salina B.; Chang-Claude, Jenny; Chanock, Stephen; Chen, Xiao Qing; Chiew, Yoke-Eng; Chiquette, Jocelyne; Chung, Wendy K.; Claes, Kathleen B.M.; Conner, Thomas; Cook, Linda S.; Cook, Jackie; Cramer, Daniel W.; Cunningham, Julie M.; D’Aloisio, Aimee A.; Daly, Mary B.; Damiola, Francesca; Damirovna, Sakaeva Dina; Dansonka-Mieszkowska, Agnieszka; Dao, Fanny; Davidson, Rosemarie; DeFazio, Anna; Delnatte, Capucine; Doheny, Kimberly F.; Diez, Orland; Ding, Yuan Chun; Doherty, Jennifer Anne; Domchek, Susan M.; Dorfling, Cecilia M.; Dörk, Thilo; Dossus, Laure; Duran, Mercedes; Dürst, Matthias; Dworniczak, Bernd; Eccles, Diana; Edwards, Todd; Eeles, Ros; Eilber, Ursula; Ejlertsen, Bent; Ekici, Arif B.; Ellis, Steve; Elvira, Mingajeva; Eng, Kevin H.; Engel, Christoph; Evans, D. Gareth; Fasching, Peter A.; Ferguson, Sarah; Ferrer, Sandra Fert; Flanagan, James M.; Fogarty, Zachary C.; Fortner, Renée T.; Fostira, Florentia; Foulkes, William D.; Fountzilas, George; Fridley, Brooke L.; Friebel, Tara M.; Friedman, Eitan; Frost, Debra; Ganz, Patricia A.; Garber, Judy; García, María J.; Garcia-Barberan, Vanesa; Gehrig, Andrea; Gentry-Maharaj, Aleksandra; Gerdes, Anne-Marie; Giles, Graham G.; Glasspool, Rosalind; Glendon, Gord; Godwin, Andrew K.; Goldgar, David E.; Goranova, Teodora; Gore, Martin; Greene, Mark H.; Gronwald, Jacek; Gruber, Stephen; Hahnen, Eric; Haiman, Christopher A.; Håkansson, Niclas; Hamann, Ute; Hansen, Thomas V.O.; Harrington, Patricia A.; Harris, Holly R; Hauke, Jan; Hein, Alexander; Henderson, Alex; Hildebrandt, Michelle A.T.; Hillemanns, Peter; Hodgson, Shirley; Høgdall, Claus K.; Høgdall, Estrid; Hogervorst, Frans B.L.; Holland, Helene; Hooning, Maartje J.; Hosking, Karen; Huang, Ruea-Yea; Hulick, Peter J.; Hung, Jillian; Hunter, David J.; Huntsman, David G.; Huzarski, Tomasz; Imyanitov, Evgeny N.; Isaacs, Claudine; Iversen, Edwin S.; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jernetz, Mats; Jensen, Allan; Jensen, Uffe Birk; John, Esther M.; Johnatty, Sharon; Jones, Michael E.; Kannisto, Päivi; Karlan, Beth Y.; Karnezis, Anthony; Kast, Karin; Kennedy, Catherine J.; Khusnutdinova, Elza; Kiemeney, Lambertus A.; Kiiski, Johanna I.; Kim, Sung-Won; Kjaer, Susanne K.; Köbel, Martin; Kopperud, Reidun K.; Kruse, Torben A.; Kupryjanczyk, Jolanta; Kwong, Ava; Laitman, Yael; Lambrechts, Diether; Larrañaga, Nerea; Larson, Melissa C.; Lazaro, Conxi; Le, Nhu D.; Le Marchand, Loic; Lee, Jong Won; Lele, Shashikant B.; Leminen, Arto; Leroux, Dominique; Lester, Jenny; Lesueur, Fabienne; Levine, Douglas A.; Liang, Dong; Liebrich, Clemens; Lilyquist, Jenna; Lipworth, Loren; Lissowska, Jolanta; Lu, Karen H.; Lubiński, Jan; Luccarini, Craig; Lundvall, Lene; Mai, Phuong L.; Mendoza-Fandiño, Gustavo; Manoukian, Siranoush; Massuger, Leon F.A.G.; May, Taymaa; Mazoyer, Sylvie; McAlpine, Jessica N.; McGuire, Valerie; McLaughlin, John R.; McNeish, Iain; Meijers-Heijboer, Hanne; Meindl, Alfons; Menon, Usha; Mensenkamp, Arjen R.; Merritt, Melissa A.; Milne, Roger L.; Mitchell, Gillian; Modugno, Francesmary; Moes-Sosnowska, Joanna; Moffitt, Melissa; Montagna, Marco; Moysich, Kirsten B.; Mulligan, Anna Marie; Musinsky, Jacob; Nathanson, Katherine L.; Nedergaard, Lotte; Ness, Roberta B.; Neuhausen, Susan L.; Nevanlinna, Heli; Niederacher, Dieter; Nussbaum, Robert L.; Odunsi, Kunle; Olah, Edith; Olopade, Olufunmilayo I.; Olsson, Håkan; Olswold, Curtis; O’Malley, David M.; Ong, Kai-ren; Onland-Moret, N. Charlotte; Orr, Nicholas; Orsulic, Sandra; Osorio, Ana; Palli, Domenico; Papi, Laura; Park-Simon, Tjoung-Won; Paul, James; Pearce, Celeste L.; Pedersen, Inge Søkilde; Peeters, Petra H.M.; Peissel, Bernard; Peixoto, Ana; Pejovic, Tanja; Pelttari, Liisa M.; Permuth, Jennifer B.; Peterlongo, Paolo; Pezzani, Lidia; Pfeiler, Georg; Phillips, Kelly-Anne; Piedmonte, Marion; Pike, Malcolm C.; Piskorz, Anna M.; Poblete, Samantha R.; Pocza, Timea; Poole, Elizabeth M.; Poppe, Bruce; Porteous, Mary E.; Prieur, Fabienne; Prokofyeva, Darya; Pugh, Elizabeth; Pujana, Miquel Angel; Pujol, Pascal; Radice, Paolo; Rantala, Johanna; Rappaport-Fuerhauser, Christine; Rennert, Gad; Rhiem, Kerstin; Rice, Patricia; Richardson, Andrea; Robson, Mark; Rodriguez, Gustavo C.; Rodríguez-Antona, Cristina; Romm, Jane; Rookus, Matti A.; Rossing, Mary Anne; Rothstein, Joseph H.; Rudolph, Anja; Runnebaum, Ingo B.; Salvesen, Helga B.; Sandler, Dale P.; Schoemaker, Minouk J.; Senter, Leigha; Setiawan, V. Wendy; Severi, Gianluca; Sharma, Priyanka; Shelford, Tameka; Siddiqui, Nadeem; Side, Lucy E.; Sieh, Weiva; Singer, Christian F.; Sobol, Hagay; Song, Honglin; Southey, Melissa C.; Spurdle, Amanda B.; Stadler, Zsofia; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Sucheston-Campbell, Lara E.; Sukiennicki, Grzegorz; Sutphen, Rebecca; Sutter, Christian; Swerdlow, Anthony J.; Szabo, Csilla I.; Szafron, Lukasz; Tan, Yen Y.; Taylor, Jack A.; Tea, Muy-Kheng; Teixeira, Manuel R.; Teo, Soo-Hwang; Terry, Kathryn L.; Thompson, Pamela J.; Thomsen, Liv Cecilie Vestrheim; Thull, Darcy L.; Tihomirova, Laima; Tinker, Anna V.; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Tone, Alicia; Trabert, Britton; Travis, Ruth C.; Trichopoulou, Antonia; Tung, Nadine; Tworoger, Shelley S.; van Altena, Anne M.; Van Den Berg, David; van der Hout, Annemarie H.; van der Luijt, Rob B.; Van Heetvelde, Mattias; Van Nieuwenhuysen, Els; van Rensburg, Elizabeth J.; Vanderstichele, Adriaan; Varon-Mateeva, Raymonda; Ana, Vega; Edwards, Digna Velez; Vergote, Ignace; Vierkant, Robert A.; Vijai, Joseph; Vratimos, Athanassios; Walker, Lisa; Walsh, Christine; Wand, Dorothea; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Webb, Penelope M.; Weinberg, Clarice R.; Weitzel, Jeffrey N.; Wentzensen, Nicolas; Whittemore, Alice S.; Wijnen, Juul T.; Wilkens, Lynne R.; Wolk, Alicja; Woo, Michelle; Wu, Xifeng; Wu, Anna H.; Yang, Hannah; Yannoukakos, Drakoulis; Ziogas, Argyrios; Zorn, Kristin K.; Narod, Steven A.; Easton, Douglas F.; Amos, Christopher I.; Schildkraut, Joellen M.; Ramus, Susan J.; Ottini, Laura; Goodman, Marc T.; Park, Sue K.; Kelemen, Linda E.; Risch, Harvey A.; Thomassen, Mads; Offit, Kenneth; Simard, Jacques; Schmutzler, Rita Katharina; Hazelett, Dennis; Monteiro, Alvaro N.; Couch, Fergus J.; Berchuck, Andrew; Chenevix-Trench, Georgia; Goode, Ellen L.; Sellers, Thomas A.; Gayther, Simon A.; Antoniou, Antonis C.; Pharoah, Paul D.P.

    2017-01-01

    To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3, 9q31.1) and one for endometrioid EOC (5q12.3). We then meta-analysed the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC. This identified an additional three loci at 2q13, 8q24.1 and 12q24.31. Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a novel susceptibility gene for low grade/borderline serous EOC. PMID:28346442

  6. Effects of oral administration of metronidazole and doxycycline on olfactory capabilities of explosives detection dogs.

    Science.gov (United States)

    Jenkins, Eileen K; Lee-Fowler, Tekla M; Angle, T Craig; Behrend, Ellen N; Moore, George E

    2016-08-01

    OBJECTIVE To determine effects of oral administration of metronidazole or doxycycline on olfactory function in explosives detection (ED) dogs. ANIMALS 18 ED dogs. PROCEDURES Metronidazole was administered (25 mg/kg, PO, q 12 h for 10 days); the day prior to drug administration was designated day 0. Odor detection threshold was measured with a standard scent wheel and 3 explosives (ammonium nitrate, trinitrotoluene, and smokeless powder; weight, 1 to 500 mg) on days 0, 5, and 10. Lowest repeatable weight detected was recorded as the detection threshold. There was a 10-day washout period, and doxycycline was administered (5 mg/kg, PO, q 12 h for 10 days) and the testing protocol repeated. Degradation changes in the detection threshold for dogs were assessed. RESULTS Metronidazole administration resulted in degradation of the detection threshold for 2 of 3 explosives (ammonium nitrate and trinitrotoluene). Nine of 18 dogs had a degradation of performance in response to 1 or more explosives (5 dogs had degradation on day 5 or 10 and 4 dogs had degradation on both days 5 and 10). There was no significant degradation during doxycycline administration. CONCLUSIONS AND CLINICAL RELEVANCE Degradation in the ability to detect odors of explosives during metronidazole administration at 25 mg/kg, PO, every 12 hours, indicated a potential risk for use of this drug in ED dogs. Additional studies will be needed to determine whether lower doses would have the same effect. Doxycycline administered at the tested dose appeared to be safe for use in ED dogs.

  7. Pigmented villonodular synovitis of the thoracic spine: case report and review of the literature Sinovitis vellonodular pigmentada de la columna torácica: informe de un caso y revisión de la literatura Sinovitis pigmentada vilonodular da coluna torácica: relato de caso e revisão da literatura

    Directory of Open Access Journals (Sweden)

    Paul M. Arnold

    2009-03-01

    Full Text Available Pigmented Villonodular Synovitis (PVNS, a lesion of the synovial tissues, is rarely found in the spine. We present a 73-year-old male with increasing lower extremity weakness and paresthesias. MRI scans revealed disc herniation and spinal cord compression at the T11-T12 and T12- L1 levels. Intraoperative exploration revealed an epidural mass originating in the T12 lamina, compressing the spinal cord at T11-T12. Pathologic examination was consistent with pigmented villonodular synovitis.Sinovitis vellonodular pigmentada (PVNS es una lesión del tejido sinovial y raramente se encuentra en la columna vertebral. Presentamos el caso de un hombre de 73 años de edad que mostró aumento de la flaqueza de la extremidad inferior y parestesias. El examen de imagen por resonancia magnética indicó una hernia de disco y compresión en el nivel de T11-T12 y T12-L1. La exploración quirúrgica evidenció una masa epidural originaria en T2 y compresión de la médula espinal a nivel de T11-T12. El examen patológico fue compatible con sinovitis vellonodular pigmentada.Sinovitis pigmentada vilonodular (PVNS é uma lesão do tecido sinovial e raramente é encontrada na coluna vertebral. Apresentamos o caso de um homem de 73 anos de idade com aumento de fraqueza da extremidade inferior e parestesia. O exame de imagem por ressonância magnética revelou hérnia de disco e compressão no nível T11-T12 e T12-L1. A exploração cirúrgica evidenciou massa epidural orginária em T2 e compressão da medula espinhal no nível de T11-T12. O exame patológico foi compatível com sinovitis pigmentada vilonodular .

  8. Vaccenic acid and trans fatty acid isomers from partially hydrogenated oil both adversely affect LDL cholesterol: a double-blind, randomized controlled trial.

    Science.gov (United States)

    Gebauer, Sarah K; Destaillats, Frédéric; Dionisi, Fabiola; Krauss, Ronald M; Baer, David J

    2015-12-01

    Adverse effects of industrially produced trans fatty acids (iTFAs) on the risk of coronary artery disease are well documented in the scientific literature; however, effects of naturally occurring trans fatty acids (TFAs) from ruminant animals (rTFA), such as vaccenic acid (VA) and cis-9,trans-11 conjugated linoleic acid (c9,t11-CLA), are less clear. Although animal and cell studies suggest that VA and c9,t11-CLA may be hypocholesterolemic and antiatherogenic, epidemiologic data comparing rTFAs and iTFAs are inconsistent, and human intervention studies have been limited, underpowered, and not well controlled. We determined the effects of VA, c9,t11-CLA, and iTFA, in the context of highly controlled diets (24 d each), on lipoprotein risk factors compared with a control diet. We conducted a double-blind, randomized, crossover feeding trial in 106 healthy adults [mean ± SD age: 47 ± 10.8 y; body mass index (in kg/m(2)): 28.5 ± 4.0; low-density lipoprotein (LDL) cholesterol: 3.24 ± 0.63 mmol/L]. Diets were designed to have stearic acid replaced with the following TFA isomers (percentage of energy): 0.1% mixed isomers of TFA (control), ∼3% VA, ∼3% iTFA, or 1% c9,t11-CLA. Total dietary fat (34% of energy) and other macronutrients were matched. Total cholesterol (TC), LDL cholesterol, triacylglycerol, lipoprotein(a), and apolipoprotein B were higher after VA than after iTFA; high-density lipoprotein (HDL) cholesterol and apolipoprotein AI also were higher after VA. Compared with control, VA and iTFA both increased TC, LDL cholesterol, ratio of TC to HDL cholesterol, and apolipoprotein B (2-6% change; P cholesterol, apolipoprotein AI, apolipoprotein B, and lipoprotein(a) (2-6% change; P < 0.05), whereas iTFA did not. c9,t11-CLA lowered triacylglycerol (P ≤ 0.01) and had no effect on other lipoprotein risk factors. With respect to risk of cardiovascular disease, these results are consistent with current nutrition labeling guidelines, with the requirement of VA, but

  9. Acute complete paraplegia of 8-year-old girl caused by spinal cord infarction following minor trauma complicated with longitudinal signal change of spinal cord.

    Science.gov (United States)

    Nagata, Kosei; Tanaka, Yuji; Kanai, Hiroyuki; Oshima, Yasushi

    2017-05-01

    Spinal cord infarction followed by minor trauma in pediatric patients is rare and causes serious paralysis. Fibrocartilaginous embolism (FCE) is a possible diagnosis and there have been no consecutive magnetic resonance imaging (MRI) reports. Here, we report a case of an acute complete paraplegia with spinal cord infarction and longitudinal spinal cord signal change following minor trauma in an 8-year-old girl. An 8-year-old girl presented to our hospital emergency services with total paraplegia 2 h after she hit her back and neck after doing a handstand and falling down. She completely lost pain, temperature sensation, and a sense of vibration below her bilateral anterior thighs. Four hours later on MRI, the T2-weighted sequence showed no spinal cord compression or signal change in vertebral bodies. The patient was treated with rehabilitation after complete bed rest. A week after the trauma, the T2-weighted sequence indicated longitudinal extension of the lesion between T11 and C6 vertebral level with ring-shaped signal change. In addition, the diffusion-weighted MRI showed increased signal below C6 vertebral level. Two weeks after the trauma, we performed the T2 star sequence images, which showed minor bleeding at T11 vertebral area and spinal cord edema below C6. Four weeks after the trauma, MRI showed minor lesion at C6 vertebral level, but spinal cord atrophy was observed at T11 vertebral level without disc signal change. Thirteen weeks after the trauma, her cervical spinal cord became almost intact and severe atrophy of the spinal cord at T11 vertebral level. At 1 year following her injury, complete paraplegia remained with sensory loss below T11 level. Her clinical presentation, lack of evidence for other plausible diagnosis, and consecutive MRI findings made FCE at T11 vertebral level with pencil-shaped softening the most likely diagnosis. In addition, consecutive cervical MRI indicated minor cervical spinal cord injury. This Grand Round case highlights

  10. Genome-wide array comparative genomic hybridization analysis reveals distinct amplifications in osteosarcoma

    International Nuclear Information System (INIS)

    Man, Tsz-Kwong; Rao, Pulivarthi H; Lu, Xin-Yan; Jaeweon, Kim; Perlaky, Laszlo; Harris, Charles P; Shah, Shishir; Ladanyi, Marc; Gorlick, Richard; Lau, Ching C

    2004-01-01

    Osteosarcoma is a highly malignant bone neoplasm of children and young adults. It is characterized by extremely complex karyotypes and high frequency of chromosomal amplifications. Currently, only the histological response (degree of necrosis) to therapy represent gold standard for predicting the outcome in a patient with non-metastatic osteosarcoma at the time of definitive surgery. Patients with lower degree of necrosis have a higher risk of relapse and poor outcome even after chemotherapy and complete resection of the primary tumor. Therefore, a better understanding of the underlying molecular genetic events leading to tumor initiation and progression could result in the identification of potential diagnostic and therapeutic targets. We used a genome-wide screening method – array based comparative genomic hybridization (array-CGH) to identify DNA copy number changes in 48 patients with osteosarcoma. We applied fluorescence in situ hybridization (FISH) to validate some of amplified clones in this study. Clones showing gains (79%) were more frequent than losses (66%). High-level amplifications and homozygous deletions constitute 28.6% and 3.8% of tumor genome respectively. High-level amplifications were present in 238 clones, of which about 37% of them showed recurrent amplification. Most frequently amplified clones were mapped to 1p36.32 (PRDM16), 6p21.1 (CDC5L, HSPCB, NFKBIE), 8q24, 12q14.3 (IFNG), 16p13 (MGRN1), and 17p11.2 (PMP22 MYCD, SOX1,ELAC27). We validated some of the amplified clones by FISH from 6p12-p21, 8q23-q24, and 17p11.2 amplicons. Homozygous deletions were noted for 32 clones and only 7 clones showed in more than one case. These 7 clones were mapped to 1q25.1 (4 cases), 3p14.1 (4 cases), 13q12.2 (2 cases), 4p15.1 (2 cases), 6q12 (2 cases), 6q12 (2 cases) and 6q16.3 (2 cases). This study clearly demonstrates the utility of array CGH in defining high-resolution DNA copy number changes and refining amplifications. The resolution of array CGH

  11. Single- and Repeated-Dose Pharmacokinetics of Ceftaroline in Plasma and Soft Tissues of Healthy Volunteers for Two Different Dosing Regimens of Ceftaroline Fosamil.

    Science.gov (United States)

    Matzneller, Peter; Lackner, Edith; Lagler, Heimo; Wulkersdorfer, Beatrix; Österreicher, Zoe; Zeitlinger, Markus

    2016-06-01

    Ceftaroline fosamil (CPT-F) is currently approved for use for the treatment of complicated skin and soft tissue infections and community-acquired pneumonia at 600 mg twice daily (q12h), but other dosing regimens are under evaluation. To date, very limited data on the soft tissue pharmacokinetics (PK) of the active compound, ceftaroline (CPT), are available. CPT concentrations in the plasma, muscle, and subcutis of 12 male healthy volunteers were measured by microdialysis after single and repeated intravenous administration of 600 mg CPT-F q12h or three times daily (q8h) in two groups of 6 subjects each. Relevant PK and PK/pharmacodynamic (PD) parameters were calculated and compared between groups. In plasma, the area under the concentration-time curve (AUC) from 0 to 24 h for total CPT and the cumulative percentage of the dosing interval during which the free drug concentrations exceeded the MIC (fTMIC) for unbound CPT for the currently established threshold of 1 mg/liter were significantly higher in the group receiving CPT-F q8h. Exposure to free drug in soft tissues was higher in the group receiving CPT-F q8h, but high interindividual variability in relevant PK parameters was observed. The mean ratios of the AUC from time zero to the end of the dosing interval (AUC0-τ) for free CPT in soft tissues and the AUC0-τ for the calculated free fraction in plasma at steady state ranged from 0.66 to 0.75. Administration of CPT-F q8h led to higher levels of drug exposure in all investigated compartments. When MIC values above 1 mg/liter were assumed, the calculated fTMIC after dosing q12h was markedly lower than that after dosing q8h. The clinical implications of these differences are discussed in light of recently completed clinical phase III and PK/PD studies. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

  12. Controlled-release oxycodone relieves neuropathic pain: a randomized controlled trial in painful diabetic neuropathy.

    Science.gov (United States)

    Watson, C Peter N; Moulin, Dwight; Watt-Watson, Judith; Gordon, Allan; Eisenhoffer, John

    2003-09-01

    Painful neuropathy is one of the most common long-term complications of diabetes mellitus and often proves difficult to relieve. Patients with diabetic neuropathy with moderate or greater pain for at least 3 months, were evaluated for efficacy, safety and health-related quality of life (QOL) while receiving controlled-release (CR) oxycodone (OxyContin) or active placebo. Patients underwent washout from all opioids 2-7 days before randomization to 10 mg CR oxycodone or active placebo (0.25 mg benztropine) q12h. The dose was increased, approximately weekly, to a maximum of 40 mg q12h CR oxycodone or 1 mg q12h benztropine, with crossover to the alternate treatment after a maximum of 4 weeks. Acetaminophen, 325-650 mg q4-6h prn was provided as rescue. Thirty-six patients were evaluable for efficacy (21 men, 15 women, mean age 63.0+/-9.4 years). CR oxycodone resulted in significantly lower (P=0.0001) mean daily pain (21.8+/-20.7 vs. 48.6+/-26.6 mm VAS), steady pain (23.5+/-23.0 vs. 47.6+/-30.7 mm VAS), brief pain (21.8+/-23.5 vs. 46.7+/-30.8 mm VAS), skin pain (14.3+/-20.4 vs. 43.2+/-31.3 mm VAS), and total pain and disability (16.8+/-15.6 vs. 25.2+/-16.7; P=0.004). Scores from 6 of the 8 SF-36 domains and both summary scales, Standardized Physical Component (P=0.0002) and Standardized Mental Component (P=0.0338) were significantly better during CR oxycodone treatment. The number needed to treat to obtain one patient with at least 50% pain relief is 2.6 and clinical effectiveness scores favoured treatment with CR oxycodone over placebo (P=0.0001). CR oxycodone is effective and safe for the management of painful diabetic neuropathy and improves QOL.

  13. Comparison of single-dose and multiple-dose pharmacokinetics between two formulations of hydrocodone bitartrate/acetaminophen: immediate-release versus biphasic immediate- release/extended release

    Directory of Open Access Journals (Sweden)

    Devarakonda K

    2015-09-01

    Full Text Available Krishna Devarakonda,1 Kenneth Kostenbader,2 Michael J Giuliani,3 Jim L Young4 1Department of Clinical Pharmacology, Mallinckrodt Pharmaceuticals, Hazelwood, MO, USA; 2Independent Pharmaceuticals Professional, Mallinckrodt Pharmaceuticals, Hazelwood, MO, USA; 3Research and Development, 4Clinical Affairs and Program Management, Mallinckrodt Pharmaceuticals, Hazelwood, MO, USA Objective: This study aimed to compare the single-dose and steady-state pharmacokinetics (PK of biphasic immediate-release (IR/extended-release (ER hydrocodone bitartrate (HB/acetaminophen (APAP and IR HB/APAP. Setting: The study was conducted in a contract research center. Participants: The study included healthy adults. Interventions: In a three-way crossover study, Study 1, participants received the following treatments: (A1 a single dose of IR/ER HB/APAP 7.5/325 mg one tablet, followed by one tablet every 12 hours (q12h; (B1 a single dose of IR/ER HB/APAP 7.5/325 mg two tablets, followed by two tablets q12h; (C1 a single dose of IR HB/APAP 7.5/325 mg two tablets (one tablet at hours 0 and 6, followed by one tablet q6h. In a two-way crossover study, Study 2, participants received the following treatments: (A2 an initial dose of IR/ER HB/APAP 7.5/325 mg three tablets, followed by two tablets q12h; (B2 three doses of IR HB/APAP 7.5/325 mg one tablet q4h, followed by one tablet q6h. Main outcome measures: PK values were compared, and adverse events were assessed. Results: Single-dose and steady-state area under the concentration–time curves for hydrocodone and APAP were similar for IR/ER and IR HB/APAP; the steady-state peak plasma concentrations (Cmax at steady state were also similar, but single-dose Cmax for hydrocodone was lower for IR/ER HB/APAP. For most PK parameters, 90% confidence intervals for geometric least squares mean ratios were not meaningfully different (80%–125%. Steady state was achieved in 2-3 days for IR/ER HB/APAP and in 2 days for IR HB/APAP. Median

  14. Evaluation of the behavior of shrouded plasma spray coatings in the platen superheater of coal-fired boilers

    Energy Technology Data Exchange (ETDEWEB)

    Sidhu, B.S.; Prakash, S. [GZS College of Engineering & Technology, Bathinda (India). Dept. of Mechanical Engineering

    2006-06-15

    Nickel- and cobalt-based coatings were formulated by a shrouded plasma spray process on boiler tube steels, namely, ASTM-SA210-grade A1 (GrA1), ASTM-SA213-T-11 (T11), and ASTM-SA213-T-22 (T22). The Ni-22Cr-10A1-1Y alloy powder was sprayed as a bond in each case before the final coating. The degradation behavior of the bared and coated steels was studied in the platen superheater of the coal-fired boiler. The samples were inserted through the soot blower dummy points with the help of stainless steel wires. The coatings were found to be effective in increasing resistance to degradation in the given boiler environment. The maximum protection was observed in the case of Stellite-6 (St-6) coating.

  15. Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation.

    Science.gov (United States)

    Ye, Yinghui; Luo, Yuqin; Qian, Yuli; Xu, Chenming; Jin, Fan

    2011-07-01

    To report the first case of cri du chat syndrome after preimplantation genetic diagnosis (PGD) for reciprocal translocation. Case report. In vitro fertilization center in a university affiliated hospital. A woman carrying a t(11;22)(q23;q11.2) translocation. Preimplantation genetic diagnosis was performed, and the woman became pregnant. Successful PGD for reciprocal translocation and diagnosis of Cri du chat syndrome for the baby. A male baby was born at 36 weeks' gestation. However, the baby presented with a high-pitched, cat-like cry. Cytogenetic study revealed a rare case of cri du chat syndrome associated with t(11;22)(q23;q11.2) translocation. Chromosomal abnormalities, including the rare cru du chat syndrome, may occur after fluorescent in situ hybridization-based preimplantation genetic diagnosis. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  16. Salmonella Typhi Vertebral Osteomyelitis and Epidural Abscess

    Directory of Open Access Journals (Sweden)

    Hau Wei Khoo

    2016-01-01

    Full Text Available Salmonella vertebral osteomyelitis is an uncommon complication of Salmonella infection. We report a case of a 57-year-old transgender male who presented with lower back pain for a period of one month following a fall. Physical examination only revealed tenderness over the lower back with no neurological deficits. MRI of the thoracic and lumbar spine revealed a spondylodiscitis at T10-T11 and T12-L1 and right posterior epidural collection at the T9-T10 level. He underwent decompression laminectomy with segmental instrumentation and fusion of T8 to L3 vertebrae. Intraoperatively, he was found to have acute-on-chronic osteomyelitis in T10 and T11, epidural abscess, and discitis in T12-L1. Tissue and wound culture grew Salmonella Typhi and with antibiotics susceptibility guidance he was treated with intravenous ceftriaxone for a period of six weeks. He recovered well with no neurological deficits.

  17. An NMR study of the molecular mobility in BeSO 4·4H 2O

    Science.gov (United States)

    Larsson, K.; Tegenfeldt, J.

    1988-05-01

    Molecular and ionic mobility in the solid hydrate BeSO 4·H 2O has been studied by 1H-NMR spectroscopy. Spin-lattice relaxation rates in the laboratory and rotating frames, T-11 and T-11π, have been measured as a function of temperature for polycrystalline samples, and as a function of orientation for a single crystal. One dynamical process has been clearly identified as being responsible for the rotating frame relaxation: an H 2O flip motion with an activation energy of 58 kJ mol -1. The pre-exponential factor of the Arrhenius relation for the correlation time of this motion is 4.3 × 10 -16 s. A second process, responsible for the laboratory frame spin-lattice relaxation is observed, but cannot be identified unambiguously.

  18. CLA isomer t10,c12 induce oxidation and apoptosis in 3t3 adipocyte cells in a similar effect as omega-3 linolenic acid and DHA.

    Directory of Open Access Journals (Sweden)

    Jon Meadus

    2017-02-01

    Full Text Available Background: Commercial conjugated linoleic acid (CLA dietary supplements contain an equal mixture of the C18:2 isomers, cis-9trans-11 and trans-10cis-12. Predominantly, CLA-c9t11 occurs naturally in meat and dairy products at ~ 0.5% of total fat , whereas CLA-t10c12 occurs at >0.1%. Recent studies show that CLA-c9t11 generally promotes lipid accumulation but CLA-t10c12 may inhibit lipid accumulation and may also promote inflammation. The omega-3 fatty acids α-linolenic acid (C18:3n-3 and docosahexaenoic acid (DHA have also been observed to inhibit lipid accumulation and effect inflammation; therefore we examined the effects of the two main isomersof CLA and omega -3 fatty acids C18:3n-3 and DHA at the molecular levelto determine if they are causing similar oxidative stresses.Methods:Purified CLA-c9t11 and CLA-t10c12 were added to 3T3 cells induced into mature adipocyte cultures at 100uM concentrations and compared with 100uM C18:3n-3(α-linolenic acid and 50uM docosahexaenoic acid (DHA to observe their effect on growth, gene transcription and general oxidation. The results of multiple separate trials were averaged and compared for significance at levels of P< 0.05, using one way ANOVA and Student’s t-test.Results:C18:3n-3, DHA and CLA-t10c12inhibited 3T3 adipose cell growth and caused a significant increase in lipid hydro peroxide activity. CLA-t10c12 and c9t11 increased AFABP, FAS and ACOX1 mRNA gene expression but DHA and C18:3n-3decreased the same mRNAs. CLA-c9t11 but not the t10c12 stimulated adipoQ expression even though; CLA-c9t11 had only a slightly greater affinity for PPARγ than CLA-t10c12, according to TR-FRET assays. The expression of the xenobiotic metabolism genes, aldo-keto reduct as 1c1 (akr1c1, superoxide dismutase (SODand inflammation chemokine secretions of eotaxin (CCL11, Rantes (CCL5, MIG (CCL9 and MCP-1 were increased by DHA, C18:3n-3and CLA-t10c12 but not CLA-c9t11. This correlated with an increase in apoptosis factors

  19. Impacts of fat fromruminants’ meat on cardiovascular health and possible strategies to alter its lipid composition

    DEFF Research Database (Denmark)

    Vargas-Bello-Pérez, Einar; Larraín, Rafael E.

    2017-01-01

    intake of fat, saturated FAs and cholesterol as a means of reducing the risk of cardiovascular disease. Interestingly, ruminant meat has some bioactive lipids such as C18:1t11 and C18:2 c9, t11 which have been reported to have positive effects on human health. In order to improve muscle fat composition......In the last few decades there has been increased consumer interest in the fatty acid (FA) composition of ruminant meat due to its content of saturated FAs, which have been implicated in diseases associated with modern life. However, recent studies have questioned the recommendations to reduce...... from a human health standpoint, oilseeds, plant oils andmarine oils can be used in ruminant diets. On the other hand,molecular mechanisms play an important role in the alteration of the FA composition of muscle fat. Genetics offer a wide range of possibilities for improvement of muscle fat...

  20. Recurrent Primary Spinal Hydatid Cyst

    Directory of Open Access Journals (Sweden)

    Okan Turk

    2015-03-01

    Full Text Available Primary hydatid disease of spine is rare and spinal hydatitosis constitute only 1% of all hydatitosis. We report a case of recurrent primary intraspinal extradural hydatid cyst of the thoracic region causing progressive paraparesis. The patient was operated 16 years ago for primary spinal hydatid disease involvement and was instrumented dorsally for stabilization. The magnetic resonance imaging (MRI of thoracic spine showed a cystic lesion at T11-12 level and compressed spinal cord posterolaterally. Intraspinal cyst was excised through T11-12 laminectomy which made formerly. The early postoperative period showed a progressive improvement of his neurological deficit and he was discharged with antihelmintic treatment consisting of albendazole and amoxicillin-sulbactam combination. [Cukurova Med J 2015; 40(Suppl 1: 84-89

  1. Isolation of Acanthamoeba from the rhizosphere of maize and lucerne plants

    Science.gov (United States)

    Orosz, Erika; Farkas, Ágnes; Ködöböcz, László; Becsak, Péter; Danka, József; Kucsera, István; Füleky, György

    2013-04-01

    Acanthamoeba species are free-living amoebae that can be found in almost every range of environments. Within this genus, a number of species are recognized as human pathogens, potentially causing Acanthamoeba keratitis, granulomatous amoebic encephalitis, and chronic granulomatous lesions. Soil and water samples were taken from experimental station at Julianna Major of Plant Protection Institute of Centre for Agricultural Research, Hungarian Academy of Sciences. We detected living Acanthamoeba spp. based on culture- confirmed detection combined with the molecular taxonomic identification method. Living Acanthamoeba spp. were detected in thirteen (65%) samples. The presence of Acanthamoeba spp. in the samples depends significantly on the rhizosphere plants. The most frequently identified living Acanthamoeba genotype was T4 followed by T11, T2/T6 and T17. Genotypes T4 and T11 of Acanthamoeba, are responsible for Acanthamoeba keratitis as well as granulomatous amoebic encephalitis, and should therefore be considered as a potential health risk associated with human activities in the environment.

  2. Cape Newenham AFS, Alaska. Revised Uniform Summary of Surface Weather Observations (RUSSWO). Parts A-F.

    Science.gov (United States)

    1983-04-01

    TEMPERATURE DEPRESION F, ’O.AL 3 - 4 5- 6 8 9- 1 11 12 13 14 𔃿 t 11 1 9 :," 2. 4 :.! 2 2 5 . . I TAL .4’ 373 - .. .. 776 7 7 8 * ... .. H- j4 93 4 5 7...H ;AVETA: PSYCHROMETRIC SUMMARY; A:Z, %EAT ER SER VCLPI ’ 7 CARUP li i.L -AF -- AM---.- 7-. - _ PAGE 1 2 WET BLLB TEmPEPATURE DEPRESION F, " AL .’ 3

  3. Development of a FDA-Approved Pharmaceutical to Treat Noise-Induced Hearing Loss

    Science.gov (United States)

    2014-08-13

    Rationale: The questions addressed in these studies were the bioavailability (blood levels) of HPN-07 administered at four (4) increasing doses (75... bioavailability was assessed at the 300 mg/kg dose level. Total free cysteine levels were also measured following administration of 300 mg/kg NAC alone...Table 3.1 Mean Pharmacokinetic Parameters of HPN-07 In Rat Plasma Following Oral Dosing Dose level t11z Tmax • Cmu SE_Cmax AUCo- nut SE_AUCo.nast

  4. Phenomenological study of helicity amplitudes of high energy exclusive leptoproduction of the ρ meson

    International Nuclear Information System (INIS)

    Anikin, I. V.; Besse, A.; Ivanov, D. Yu.; Pire, B.; Szymanowski, L.; Wallon, S.

    2011-01-01

    We apply a previously developed scheme to consistently include the twist-3 distribution amplitudes for transversely polarized ρ mesons in order to evaluate, in the framework of k T factorization, the helicity amplitudes for exclusive leptoproduction of a light vector meson, at leading order in α s . We compare our results with high energy experimental data for the ratios of helicity amplitudes T 11 /T 00 and T 01 /T 00 and get a good description of the data.

  5. Equilibrium and metastable nanoscale domains in ultrathin magnets

    Czech Academy of Sciences Publication Activity Database

    Kisielewski, M.; Maziewski, A.; Polyakova, T.; Zablotskyy, Vitaliy A.

    2006-01-01

    Roč. 3, č. 5 (2006), s. 1333-1338 ISSN 1610-1634. [International Conference on Nanoscale Magnetism ICNM-2005. Istanbul, 03.07.2005-07.07.2005] Grant - others:Polish State Committee for Sci. Research(PL) 4 T11B 006 24; Marie Curie Fondation(PL) NANOMAG-LAB, N 2004-003177 Institutional research plan: CEZ:AV0Z10100520 Keywords : ultrathin films * metastable domains * thermodynamics. Subject RIV: BM - Solid Matter Physics ; Magnetism

  6. Prospective Randomized Trial of the Military Anti-Shock Garment

    Science.gov (United States)

    1987-12-20

    canine hemorrhagic shock. Ann Emer Med 11:661, 1983. 99. Palafox BA: ICP changes following application of the MAST suit. J Trauma 21:55, 1981. 100...86 09 07 N T 11 12 1 16 .929 N 869 13520453 TORRES, JE 86 09 26 N T 14 15 1 32 .950 N 875 13592195 MENDOZA , A 86 09 26 N T 13 13 0 13 .963 N b76

  7. Needle-like domain structure in Co films deposited on Mo (1 1 0)

    Czech Academy of Sciences Publication Activity Database

    Tekielak, M.; Schäfer, R.; McCord, J.; Maziewski, A.; Zablotskyy, Vitaliy A.; Baczewski, L. T.; Wawro, A.

    2007-01-01

    Roč. 316, - (2007), s. 184-187 ISSN 0304-8853. [Joint European Magnetic Symposia /3./ (JEMS´06). San Sebastian, 26.06.2006-30.06.2006] EU Projects: European Commission(XE) 3177 - NANOMAG-LAB Grant - others:PSCSR(PL) 4T11B 006 24 Institutional research plan: CEZ:AV0Z10100520 Keywords : ultrathin cobalt film * domain structure * domain vall * coercivity field Subject RIV: BM - Solid Matter Physics ; Magnetism Impact factor: 1.704, year: 2007

  8. Biomechanical comparison of mono-segment transpedicular fixation with short-segment fixation for treatment of thoracolumbar fractures: a finite element analysis.

    Science.gov (United States)

    Xu, Guijun; Fu, Xin; Du, Changling; Ma, Jianxiong; Li, Zhijun; Tian, Peng; Zhang, Tao; Ma, Xinlong

    2014-10-01

    Mono-segment transpedicular fixation is a method for the treatment of certain types of thoracolumbar spinal fracture. Finite element models were constructed to evaluate the biomechanics of mono-segment transpedicular fixation of thoracolumbar fracture. Spinal motion (T10-L2) was scanned and used to establish the models. The superior half of the cortical bone of T12 was removed and the superior half of the cancellous bone of the T12 body was assigned the material properties of injured bone to mimic vertebral fracture. Transpedicular fixation of T11 and T12 was performed to produce a mono-segment fixation model; T11 and L1 were fixed to produce a short-segment fixation model. Motion differences between functional units and von Mises stress on the spine and implants were measured under axial compression, anterior bending, extensional bending, lateral bending and axial rotation. We found no significant difference between mono- and short-segment fixations in the motion of any functional unit. Stress on the T10/T11 nucleus pulposus and T10/T11 and L1/L2 annulus fibrosus increased significantly by about 75% on anterior bending, extensional bending and lateral bending. In the fracture model, stress was increased by 24% at the inferior endplate of T10 and by 43% at the superior endplate of L2. All increased stresses were reduced after fixation and lower stress was observed with mono-segment fixation. In summary, the biomechanics of mono-segment pedicle screw instrumentation was similar to that of conventional short-segment fixation. As a minimally invasive treatment, mono-segment fixation would be appropriate for the treatment of selected thoracolumbar spinal fractures. © IMechE 2014.

  9. Impact of primary molecular cytogenetic abnormalities and risk of progression in smoldering multiple myeloma.

    Science.gov (United States)

    Rajkumar, S V; Gupta, V; Fonseca, R; Dispenzieri, A; Gonsalves, W I; Larson, D; Ketterling, R P; Lust, J A; Kyle, R A; Kumar, S K

    2013-08-01

    We studied 351 patients with smoldering multiple myeloma (SMM) in whom the underlying primary molecular cytogenetic subtype could be determined based on cytoplasmic immunoglobulin fluorescent in situ hybridization studies. Hundred and fifty-four patients (43.9%) had trisomies, 127 (36.2%) had immunoglobulin heavy chain (IgH) translocations, 14 (4%) both trisomies and IgH translocations, 53 (15.1%) no abnormalities detected and 3 (0.9%) had monosomy13/del(13q) in the absence of any other abnormality. Among 127 patients with IgH translocations, 57 were t(11;14), 36 t(4;14), 11 musculoaponeurotic fibrosarcoma (MAF) translocations, and 23 other or unknown IgH translocation partner. Time to progression (TTP) to symptomatic multiple myeloma was significantly shorter in patients with the t(4;14) compared with patients with t(11;14), median 28 versus 55 months, respectively, P=0.025. The median TTP was 28 months with t(4;14) (high-risk), 34 months with trisomies alone (intermediate-risk), 55 months with t(11;14), MAF translocations, other/unknown IgH translocations, monosomy13/del(13q) without other abnormalities, and those with both trisomies and IgH translocations (standard-risk), and not reached in patients with no detectable abnormalities (low-risk), P=0.001. There was a trend to shorter TTP with deletion 17p (median TTP, 24 months). Overall survival from diagnosis of SMM was significantly inferior with t(4;14) compared with t(11;14), median 105 versus 147 months, respectively, P=0.036.

  10. Labor-Management Relations: Strikes and the Use of Permanent Strike Replacements in the 1970s and 1980s

    Science.gov (United States)

    1991-01-01

    Labor Violations Throughout the United States (GAO/HRD-90-i 16;, Apr. 30, 1990). Child Labor Violations and Sweatshops in the U.S. (GAO/T-11RD-90-18...Mar. 16,1990). How Well Does OSIIA Protect Workers From Reprisal: Inspector Opin- ions (GAO/T-HI1)-q0-8, Nov. 16, 1989). " Sweatshops " in the U.S

  11. White noise excitation of road vehicle structures

    Indian Academy of Sciences (India)

    the space age in the middle of the 1960s, the generation of equations of motion are more formalized. ... x(t) = [ y(t). ˙y(t). ] ,. (11) where for ordinary multibody systems it yields n = 2f with the number f denoting the degrees of freedom. Based on the state vector (11) the equations of motion are simply transformed into the state.

  12. Characteristics of Helicobacter pylori-positive and Helicobacter pylori-negative gastric mucosa-associated lymphoid tissue lymphoma and their influence on clinical outcome.

    Science.gov (United States)

    Choi, Yoon Jin; Kim, Nayoung; Paik, Jin Ho; Kim, Jung Mogg; Lee, Sang Hyub; Park, Young Soo; Hwang, Jin-Hyeok; Kim, Jin-Wook; Jeong, Sook-Hyang; Lee, Dong Ho; Jung, Hyun Chae

    2013-06-01

    To compare clinicopathologic and molecular characteristics of low-grade gastric mucosa-associated lymphoid tissue lymphoma depending on Helicobacter pylori positivity and to find out a predictive factor for unresponsiveness to Helicobacter pylori eradication therapy in Korea. A total of 53 Helicobacter pylori-positive and 13 negative mucosa-associated lymphoid tissue lymphoma patients were enrolled, and tissues from 21 patients were investigated to examine the presence of t(11;18)(q21;q21) with fluorescence in situ hybridization. Clinicopathologic features such as the endoscopic appearance, dominant site of lesion, depth of invasion, clinical stage, and the existence of MALT1 gene rearrangement were compared between these two groups. Fifty-six patients who underwent H. pylori eradication therapy were divided into responder and nonresponder groups. The two groups were analyzed to calculate odds ratios for resistance to the eradication. Helicobacter pylori-negative gastric mucosa-associated lymphoid tissue lymphoma patients averaged a more advanced clinical stage than H. pylori-positive (p = .023) patients. The frequency of t(11;18)/API2-MALT1 did not differ between H. pylori-positive (45.5%) and H. pylori-negative cases (55.6%). Thirty-eight of 51 (74.5%) H. pylori-positive patients achieved complete regression after the eradication, while 2 of 5 (40%) H. pylori-negative patients obtained regression. Presence of lesions in both distal and proximal parts of stomach (p = .041) and bearing of t(11;18)(q21;q21) (p = .007) were predictors for nonresponsiveness for H. pylori eradication. Helicobacter pylori eradication could be performed as a primary therapy regardless of H. pylori status, and assessing t(11;18)/API2-MALT1 would be considered after failure to remission by H. pylori eradication. © 2013 John Wiley & Sons Ltd.

  13. Theory of Semiconducting Superlattices and Microstructures

    Science.gov (United States)

    1992-03-01

    1). D~ow"J. E. Gxmnm hud T. .11 R] Acca .Z’iqs. Re. Ldl.0, 14G(1U. (343, ). DLU=z, N*; J. n md IL B. Grurnzi: Phli4. !.er. -1, 4.,1071 (1971). R%-im...composition: it The recursion method has been described comes from the contributions of clusters elsewhere f6 -1, and is veil-suited for containing Ga and AL

  14. Effect of graded levels of phosphorus on growth and mineral ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-08-18

    Aug 18, 2009 ... Eleven diets (D1 - D11), designated as treatments (T1 - T11), supplemented with different levels of inorganic phosphorus (P) (CaHPO4) were fed to Heterobranchus bidorsalis (10.8 ± 0.02 g) to determine the optimum P requirement. D1 - D11 contained total P of 10.2, 10.4, 11.0, 11.9, 12.3, 12.6, 13.4, 13.9, ...

  15. Fuzzy Logic and Its Application in Football Team Ranking

    Directory of Open Access Journals (Sweden)

    Wenyi Zeng

    2014-01-01

    some certain rules, we propose four parameters to calculate fuzzy similar matrix, obtain fuzzy equivalence matrix and the ranking result for our numerical example, T7, T3, T1, T9, T10, T8, T11, T12, T2, T6, T5, T4, and investigate four parameters sensitivity analysis. The study shows that our fuzzy logic method is reliable and stable when the parameters change in certain range.

  16. Complete Set of Deuteron Analyzing Powers for dp Elastic Scattering at 250 MeV/nucleon and Three Nucleon Forces

    Directory of Open Access Journals (Sweden)

    Shimizu Y.

    2010-04-01

    Full Text Available Measurements of a complete set of deuteron analyzing powers (iT11, T20, T21, T22 for elastic deuteron–proton scattering at 250 MeV/nucleon have been performed with polarized deuteron beams at RIKEN RI Beam Factory. The obtained data are compared with the Faddeev calculations based on the modern nucleon–nucleon forces together with the Tucson-Melbourne’99, and UrbanaIX three nucleon forces.

  17. Endovascular obliteration of a ruptured posterior spinal artery pseudoaneurysm.

    Science.gov (United States)

    Tanweer, Omar; Woldenberg, Rona; Zwany, Sarah; Setton, Avi

    2012-10-01

    Aneurysms of the posterior spinal artery (PSA) are rare lesions. Isolated PSA aneurysms, not in the setting of a high-flow environment, are even more rare. In the few reported cases, these lesions have been predominantly resected or observed. The authors report an isolated pseudoaneurysm of the PSA at the T-11 level presenting with subarachnoid hemorrhage. The patient underwent successful endovascular obliteration. To the authors' knowledge, this is the first report of an endovascular repair of an isolated PSA aneurysm.

  18. Velvet Creative Alliance

    Index Scriptorium Estoniae

    2007-01-01

    Tallinnas Niine t. 11 asuva disainibüroo Velvet Creative Alliance sisekujundus, mille eest sisearhitekt Taavi Aunre (Boom) pälvis Eesti Sisearhitektide Liidu 2006. a. büroointerjööri preemia. Osa mööblist on valmistatud T. Aunre jooniste järgi. Graafilise disaini osa kavandas disainibüroo ise. T. Aunrest, tema tähtsamad tööd. Plaan, 9 värv. vaadet, foto T. Aunrest

  19. Performance Degradation of A 7400 TTL NAND Gate Due to Sinusoidal Interference.

    Science.gov (United States)

    1980-08-01

    supplied. Fortunately, the SPICE computer program does contain stored circuit models for both the bipolar junction transistor ( BJT ) and the semi- conductor...that the circuit contains 5 transistors and 3 diodes. In actuality, the two input transistors J T11 and T1 2 comprise a single dual emitter transistor ...As shown in Fig. la, typical resistor values are provided by the manufacturer. However, circuit models for the transistors and diodes are not

  20. DNAPL Managements Overview

    Science.gov (United States)

    2007-04-01

    or destruction can be achieved (see study results summarized in Figure 5) Zero Valent Iron Bioremediation Surfactant Flushing Thermal P&T...11 9 1 1 1 3 1 1 1 6 1 2 6 11 1 9 3 2 3 2 1 Total Number of Sites with Mass Flux Data - 80 Zero Valent Iron Bioremediation 11 Surfactant Flushing...Salisbury, Maryland, a former Creosote Site left a large DNAPL contamination zone (Figure B-1). Groundwater flow at this site was directed toward

  1. IgM multiple myeloma: disease definition, prognosis, and differentiation from Waldenstrom's macroglobulinemia.

    Science.gov (United States)

    Schuster, Steven R; Rajkumar, Sundararajan Vincent; Dispenzieri, Angela; Morice, William; Aspitia, Alvaro Moreno; Ansell, Stephen; Kyle, Robert; Mikhael, Joseph

    2010-11-01

    IgM multiple myeloma (MM) and Waldenstrom's macroglobulinemia (WM) are two distinct hematologic entities with the common finding of an IgM monoclonal gammopathy. Distinguishing these two diagnoses is critical as the approach to therapy is different. A priori, we defined IgM MM as a symptomatic clonal plasma cell proliferative disorder characterized by an IgM monoclonal protein (regardless of size), 10% or more plasma cells on bone marrow biopsy, plus the presence of lytic bone lesions and/or translocation t(11;14). Twenty-one patients met this definition of IgM MM. All 21 patients had lytic bone lesions. Of the 16 evaluated with FISH, 6 (38%) demonstrated t(11;14). Median overall survival was 30 months, which is similar to non-IgM myeloma patients treated during this period and shorter than what would be expected for WM. In this, the largest series of patients with IgM MM, we describe the clinical features and prognosis of patient with IgM MM using a strict definition for the disease. The subset of patients without lytic lesions or t(11;14) but with immunophenotypic features suggestive of MM need further study. © 2010 Wiley-Liss, Inc.

  2. Recurrent surgical site infection of the spine diagnosed by dual 18F-NaF-bone PET/CT with early-phase scan

    International Nuclear Information System (INIS)

    Shim, Jai-Joon; Lee, Jeong Won; Jeon, Min Hyok; Lee, Sang Mi

    2016-01-01

    We report a case of a 31-year-old man who showed recurrently elevated level of the serum inflammatory marker C-reactive protein (CRP) after spinal operation. He underwent 18 F-flurodeoxyglucose ( 18 F-FDG) positron emission tomography/computed tomography (PET/CT) and dual 18 F-sodium-fluoride ( 18 F-NaF) PET/CT with an additional early-phase scan to find a hidden inflammation focus. Only mildly increased 18 F-FDG was found at the surgical site of T11 spine on 18 F-FDG PET/CT. In contrast, dual 18 F-NaF bone PET/CT with early-phase scan demonstrated focal active inflammation at the surgical site of T11 spine. After a revision operation of the T11 spine, serum CRP level decreased to the normal range without any symptom or sign of inflammation. Inflammatory focus in the surgical site of the spine can be detected with using dual 18 F-NaF bone PET/CT scan with early-phase scan. (orig.)

  3. CERN Technical training: Available places in forthcoming courses

    CERN Multimedia

    HR Department

    2010-01-01

    The following course sessions are scheduled in the framework of the 2010 CERN Technical Training Programme and places are still available. You can find the full updated Technical Training course programme in our web catalogue. Software and system technologies Agile Project Management with Scrum\t11-FEB-10\t12-FEB-10\t2 days\tEnglish C++ Part 1 - Hands-On Introduction\t17-Mar-10\t19-Mar-10\t3 days\tEnglish CERN openlab/Intel Computer Architecture and Performance Tuning Workshop\t09-FEB-10\t10-FEB-10\t2 days\tEnglish Developing secure software\t22-Mar-10\t22-Mar-10\t0.5 day\tEnglish Emacs - way beyond Text Editing\t26-Mar-10\t26-Mar-10\t1 day English Introduction to Databases and Database Design\t11-Mar-10\t12-Mar-10\t2 days\tEnglish JAVA 2 Enterprise Edition - Part 2: Enterprise JavaBeans\t22-Mar-10\t24-Mar-10\t3 days\tEnglish JCOP - Finite State Machines in the JCOP Framework\t9-Mar-10\t11-Mar-10\t3 days\tEnglish JCOP - Joint PVSS-JCOP Framework\t22-FEB-10\t26-FEB-10\t5 days\tEnglish Object-Oriented Analysis and Design using UML\t23-Mar-10\t25...

  4. CERN Technical Training: available places in forthcoming courses

    CERN Multimedia

    HR Department

    2010-01-01

    The following course sessions are scheduled in the framework of the 2010 CERN Technical Training Programme and places are still available. You can find the full updated Technical Training course programme in our web catalogue. Software and system technologies Agile Project Management with Scrum,\t11-FEB-10\t12-FEB-10,\t2 days,\tEnglish CERN openlab/Intel Computer Architecture and Performance Tuning Workshop,\t09-FEB-10\t10-FEB-10,\t2 days,\tEnglish Developing secure software,\t22-Mar-10\t22-Mar-10,\t1.5 hour,\tEnglish Introduction to Databases and Database Design,\t11-Mar-10\t12-Mar-10,\t2 days,\tEnglish JAVA 2 Enterprise Edition - Part 2: Enterprise JavaBeans,\t22-Mar-10\t24-Mar-10,\t3 days,\tEnglish JCOP - Finite State Machines in the JCOP Framework,\t9-Mar-10\t11-Mar-10,\t3 days,\tEnglish JCOP - Joint PVSS-JCOP Framework,\t22-FEB-10\t26-FEB-10,\t4.5 days,\tEnglish Object-Oriented Analysis and Design using UML,\t22-Mar-10\t24-Mar-10,\t3 days,\tEnglish Secure coding for Java,\t12-FEB-10\t12-FEB-10,\t1 day, English Secure coding for Perl,\t10...

  5. [Biomechanical effect on adjacent vertebra after percutaneous kyphoplasty with cement leakage into disc: a finite element analysis of thoracolumbar osteoporotic vertebral compression fracture].

    Science.gov (United States)

    Fei, Qi; Li, Qiu-Jun; Li, Dong; Yang, Yong; Tang, Hai; Li, Jin-Jun; Wang, Bing-Qiang; Wang, Yi-Peng

    2011-01-04

    To explore the biomechanical effects on adjacent vertebra of thoracolumbar osteoporotic vertebral compression fracture (OVCF) after percutaneous kyphoplasty (PKP) with cement leakage into the disc by using finite element analysis. T10-L2 segment data were obtained from computed tomography (CT) scans of an elder female with single T12 OVCF undergoing a cement leakage into the T12-L1 disc after PKP. A three-dimensional finite element Model of thoracolumbar spine (T10-L2) was built in the Mimics and the ABAQUS software. The stress on annulus fiber, nucleus pulposus, endplate and facet joints under axial pressure (0.3, 1.0, 4.0 MPa) were analyzed. The 3D finite element after percutaneous kyphoplasty (PKP) with cement leakage into the disc may be strongly related with the changes of biomechanical effects on adjacent vertebra of thoracolumbar OVCF. Models of thoracolumbar OVCF before and after PVP with a cement leakage into the T12-L1 disc were successfully established. The stresses increased with a rising axial pressure in the model of cement leakage into the disc after PVP, the stress augmentation scope on adjacent end plates(T11 low plate & L1 top plate) and intervertebral disc (T11-12 & T12-L1) increased. The maximal Von Mises stress on adjacent vertebra (T11 & L1) increased while but the maximal Von Mises stress on end vertebra (T10 & L2) decreased. Postoperative adjacent vertebral fracture.

  6. Efficacy of clindamycin in the treatment of Staphylococcus aureus osteomyelitis in dogs

    International Nuclear Information System (INIS)

    Braden, T.D.; Johnson, C.A.; Wakenell, P.; Tvedten, H.W.; Mostosky, U.V.

    1988-01-01

    The efficacy of clindamycin in the treatment of experimentally induced, posttraumatic Staphylococcus aureus osteomyelitis was studied in dogs. At the end of the experiment, bacteria could not be isolated from bone marrow of 15 of 16 (93.7%) dogs treated with clindamycin, whereas bacteria could not be isolated from similar specimens obtained from 6 of 13 (46.1%) untreated dogs. None of the 16 dogs treated with clindamycin had histopathologic evidence of osteomyelitis at the end of the experiment. Five of the 13 untreated control dogs had histopathologic evidence of osteomyelitis. The recovery rate was 31% in untreated dogs, whereas 94% of dogs treated with clindamycin recovered from osteomyelitis. Clindamycin, 11 mg/kg of body weight, given orally, q 12 h, for 28 days, was efficacious in the treatment of experimentally induced, posttraumatic S aureus osteomyelitis in dogs

  7. Single- and multiple-dose pharmacokinetics of biphasic immediate-release/extended-release hydrocodone bitartrate/acetaminophen (MNK-155 compared with immediate-release hydrocodone bitartrate/ibuprofen and immediate-release tramadol HCl/acetaminophen

    Directory of Open Access Journals (Sweden)

    Devarakonda K

    2015-09-01

    Full Text Available Krishna Devarakonda,1 Kenneth Kostenbader,2 Michael J Giuliani,3 Jim L Young41Department of Clinical Pharmacology, Mallinckrodt Pharmaceuticals, 2Mallinckrodt Pharmaceuticals, 3Research and Development, Mallinckrodt Pharmaceuticals, 4Department of Clinical Affairs and Program Management, Mallinckrodt Pharmaceuticals, Hazelwood, MO, USAObjective: To characterize the single-dose and steady-state pharmacokinetics (PK of biphasic immediate-release/extended-release hydrocodone bitartrate/acetaminophen (IR/ER HB/APAP, IR HB/ibuprofen, and IR tramadol HCl/APAP.Methods: In this single-center, open-label, randomized, four-period crossover study, healthy participants received four treatments under fasted conditions: 1 a single dose of two IR/ER HB/APAP 7.5/325 mg tablets (15/650 mg total dose on day 1, followed by two tablets every 12 hours (q12h beginning on day 3; 2 a single dose of IR HB/ibuprofen 15/400 mg (divided as one 7.5/200 mg tablet at hour 0 and 6, followed by one tablet every 6 hours (q6h beginning on day 3; 3 a single dose of IR tramadol HCl/APAP 75/650 mg (divided as one 37.5/325 mg tablet at hour 0 and 6, followed by one tablet q6h beginning on day 3; and 4 a single dose of three IR/ER HB/APAP 7.5/325 mg tablets (22.5/975 mg total dose on day 1, a three-tablet initial dose at 48 hours followed by two-tablet doses q12h beginning on day 3. Hydrocodone and APAP single-dose and steady-state PK were assessed. Adverse events were monitored.Results: The PK analysis was carried out on 29 of 48 enrolled participants who completed all treatment periods. Single-dose hydrocodone exposure was similar for IR/ER HB/APAP 22.5/975 mg and IR HB/ibuprofen 15/400 mg; time to maximum observed plasma concentration was shorter and half-life was longer for IR/ER HB/APAP (22.5/975 mg and 15/650 mg vs IR HB/ibuprofen. Single-dose APAP exposure was similar for IR/ER HB/APAP 15/650 mg and IR tramadol HCl/APAP 75/650 mg. Steady-state hydrocodone and APAP exposures

  8. Tyndall AFB, Florida. Revised Uniform Summary of Surface Weather Observations. Parts A-F.

    Science.gov (United States)

    1987-07-24

    0 ................................................................................................................................ NO CLIL 1 14.8...GE GE GE G, G L GE GE GE GE GE GE GE GE GE FEET I 10 6 5 4 3 2 1𔃼 2 1 1/2 1 1/4 1 7/4 5/8 1/2 S11 1/4 0 140 CLIL I 8.0 68.7 71.3 71.7 71.Q 12.2...Gi E GE E GE GE E 01 IE GE GE FEET 1 10 6 5 4 3 2 112 z 1 1/2 1 1/4 £ 3/4 i/ 1/2 1/16 1/4 C n70 CLIL 1 3.2 54.C 57.4 S9.6 (.. [.Z.U 62.0 62.0 u2.2

  9. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.

    Science.gov (United States)

    Knoll, J H; Asamoah, A; Pletcher, B A; Wagstaff, J

    1995-01-16

    We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridization (FISH) analysis showed duplication of the IGLC locus, and C-banding of the duplicated region was negative. The duplication appears to involve 22q11.2-q12. Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22. Further molecular studies of this patient should help to define the regions responsible for the manifestations of cat eye syndrome.

  10. Two cases of partial trisomy 4p and partial trisomy 14q.

    Science.gov (United States)

    Kim, Yeo-Hyang; Kim, Heung-Sik; Ryoo, Nam-Hee; Ha, Jung-Sook

    2013-01-01

    We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.

  11. A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene

    DEFF Research Database (Denmark)

    Gregersen, Noomi; Dahl, Hans A.; Buttenschön, Henriette N.

    2012-01-01

    Panic disorder (PD) is a mental disorder with recurrent panic attacks that occur spontaneously and are not associated to any particular object or situation. There is no consensus on what causes PD. However, it is recognized that PD is influenced by environmental factors, as well as genetic factors....... Despite a significant hereditary component, genetic studies have only been modestly successful in identifying genes of importance for the development of PD. In this study, we conducted a genome-wide scan using microsatellite markers and PD patients and control individuals from the isolated population...... of the Faroe Islands. Subsequently, we conducted a fine mapping, which revealed the amiloride-sensitive cation channel 1 (ACCN1) located on chromosome 17q11.2-q12 as a potential candidate gene for PD. The further analyses of the ACCN1 gene using single-nucleotide polymorphisms (SNPs) revealed significant...

  12. A novel type of EWS-CHOP fusion gene in myxoid liposarcoma

    International Nuclear Information System (INIS)

    Matsui, Yoshito; Ueda, Takafumi; Kubo, Takahiro; Hasegawa, Tadashi; Tomita, Yasuhiko; Okamoto, Mina; Myoui, Akira; Kakunaga, Shigeki; Yasui, Natsuo; Yoshikawa, Hideki

    2006-01-01

    The cytogenetic hallmark of myxoid type and round cell type liposarcoma consists of reciprocal translocation of t(12;16)(q13;p11) and t(12;22)(q13;q12), which results in fusion of TLS/FUS and CHOP, and EWS and CHOP, respectively. Nine structural variations of the TLS/FUS-CHOP chimeric transcript have been reported, however, only two types of EWS-CHOP have been described. We describe here a case of myxoid liposarcoma containing a novel EWS-CHOP chimeric transcript and identified the breakpoint occurring in intron 13 of EWS. Reverse transcription-polymerase chain reaction and direct sequence showed that exon 13 of EWS was in-frame fused to exon 2 of CHOP. Genomic analysis revealed that the breaks were located in intron 13 of EWS and intron 1 of CHOP

  13. Biological Therapy in Treating Patients With Advanced Myelodysplastic Syndrome, Acute or Chronic Myeloid Leukemia, or Acute Lymphoblastic Leukemia Who Are Undergoing Stem Cell Transplantation

    Science.gov (United States)

    2017-03-27

    Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); B-cell Adult Acute Lymphoblastic Leukemia; B-cell Childhood Acute Lymphoblastic Leukemia; Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; Essential Thrombocythemia; Polycythemia Vera; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Relapsing Chronic Myelogenous Leukemia; Secondary Acute Myeloid Leukemia; T-cell Adult Acute Lymphoblastic Leukemia; T-cell Childhood Acute Lymphoblastic Leukemia

  14. Positive and negative staircase effect during single twitch and train-of-four stimulation: a laboratory study in dogs.

    Science.gov (United States)

    Martin-Flores, Manuel; Tseng, Chia T; Sakai, Daniel M; Romano, Marta; Campoy, Luis; Gleed, Robin D

    2017-04-01

    A positive staircase effect is well documented during neuromuscular monitoring. However, the increase in twitch amplitude may not remain stable over time. We compared the staircase phenomenon and twitch stability during single twitch (ST) or train-of-four (TOF) stimulation in anesthetized dogs. Force of contraction was measured in ten dogs. Each thoracic limb was stimulated with ST 0.1 Hz or TOF q 12 s for 25 min (random order). No neuromuscular blockers were administered. Every 5 min, ST and T1 amplitudes were compared within and between groups. Stability of twitch amplitude (5 % with TOF. An initial increase in ST amplitude remained stable over the observation period, but the increase in T1 amplitude during TOF was frequently followed by a decay. A stable twitch amplitude (variation twitch amplitude.

  15. A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene

    DEFF Research Database (Denmark)

    Ottesen, A M; Garn, I D; Aksglaede, L

    2007-01-01

    Due to the high prevalence and variable phenotype of patients with Klinefelter syndrome, there is a need for a robust and rapid screening method allowing early diagnosis. Here, we report on the development and detailed clinical validation of a quantitative real-time PCR (qPCR)-based method...... of the copy number assessment of the androgen receptor (AR) gene, located to Xq11.2-q12. We analysed samples from 50 individuals, including a healthy male and female controls and patients with Klinefelter syndrome (47,XXY; 48,XXXY) (n = 28), mosaicisms (46,XX/47,XXY/48XXYY; 45,X/46,XY) (n = 3), other sex......-gene expression. The XIST-expression based assay was correct in only 29/36 samples (81%). Our findings demonstrated that the AR-qPCR technique is a simple and reliable screening method for diagnosis of patients with Klinefelter syndrome or other chromosomal disorders involving an aberrant number of X-chromosomes....

  16. LRRK2 R1441G in Spanish patients with Parkinson's disease.

    Science.gov (United States)

    Mata, Ignacio F; Taylor, Julie P; Kachergus, Jennifer; Hulihan, Mary; Huerta, Cecilia; Lahoz, Carlos; Blazquez, Marta; Guisasola, Luis M; Salvador, Carlos; Ribacoba, Renee; Martinez, Carmen; Farrer, Matthew; Alvarez, Victoria

    2005-07-15

    Pathogenic mutations in leucine-rich repeat kinase 2 (LRRK2; PARK8) have been implicated in autosomal dominant, late-onset Parkinson's disease (PD). The LRRK2 4321C>G (R1441G) mutation was originally identified in Spanish families originating from the Basque region. Within this ethnicity, Lrrk2 R1441G substitutions have been suggested as a frequent cause of disease. Herein we have assessed another referral-based series of 225 patients with PD from the neighboring region of Asturias, Northern Spain. The LRRK2 4321C>G mutation was found in 5 (2.7%) of sporadic, late-onset patients and was not present in control subjects. Although patients with a Lrrk2 R1441G substitution are apparently unrelated, they share a chromosome 12q12 haplotype not found in controls and indicative of a common founder.

  17. Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome.

    Science.gov (United States)

    Jerkovich, Adria M; Butler, Merlin G

    2014-01-01

    We report a 10-year-old Caucasian male identified with copy number variation detected by microarray analysis including a maternally inherited 15q11.2 microdeletion involving 4 genes, paternally inherited 13q12.2 microdeletion with 10 genes, and a de novo 2q14.3 duplication involving 4 genes. He had a history of speech delay, cognitive deficits, attention deficit hyperactivity disorder and a posterior lenticonus cataract removed at 5 yr of age. The genes on chromosomes 2 and 13 are not known to be involved with cataract formation, which lends further support of the role of the 15q11.2 region and additional evidence for phenotypic expansion of the 15q11.2 BP1-BP2 microdeletion (termed Burnside-Butler) syndrome.

  18. [Identification and characterization of a Bacillus amyloliquefaciens with high antifungal activity].

    Science.gov (United States)

    Quan, Chun-shan; Wang, Jun-hua; Xu, Hong-tao; Fan, Sheng-di

    2006-02-01

    Plant disease can cause serious crop losses, and chemical control of disease is costly both to the environment and to the farmer. Some microorganism can produce the substance which has the preventing and exterminating functions to plant pathogens. These substances are valid to plant pathogens with only lower concentration, in addition the substances do not remain in soil and crops without being decomposed. If composization is performed with the microorganism, or the microorganism is mixed into compost, the functional compost having preventing and exterminating action will be made out and that can be more useful to environmental preservation. In order to screen antifungal bacteria for use in biological control, 200 compost samples were taken from different regions in China, over 10 bacterium with clear antifungal activity were isolated from composts, among them, strain Q-12 exhibited the highest antifungal activity which was strongly inhibits the growth of many plant pathogenic fungi such as Fusarium oxysporum and Rhizoctonia solan. According to the characteristics of morphology, physiology and biochemistry tests (API 50 CHB/E system) and the comparison of 16S rDNA sequence, the strain Q-12 was similar to B. subtilis and B. amyloliquefaciens. Some specific genes yyaR, yyaO and tetB, which have previously been shown to be effective for resolving these closely related taxa of the B. subtilis group, were analysed to clarify further the classification of Q-12, and two pairs of primers YyaR _ F/TetB _ R and YyaO _ F/TetB _ R were designed. From the analysis of fingerprints obtained with the two primers, strain Q-12 and B. amyloliquefaciens showed identical genomic fingerprints with primers YyaR _ F/TetB R, indicating their closely genetic relationship, and was identified as B. amyloliquefaciens. In the investigation of the culture condition, growth was carried out in a basal medium and gradually supplemented with the various ingredients to be investigated. The major

  19. Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder

    DEFF Research Database (Denmark)

    Severinsen, Jacob; Bjarkam, Carsten; Kiær-Larsen, Stine

    Introduction: Linkage studies suggest that chromosome 22q12-13 may contain one or more shared susceptibility genes for schizophrenia (SZ) and bipolar affective disorder (BPD). In a Faeroese sample we previously reported association between microsatellite markers located at 22q13.31-qtel and both...... disorders. Methods: The present study reports an association analysis across 5 genes (including 14 single nucleotide and two microsatellite polymorphisms) in this interval using a case-control sample of 162 BPD, 103 SZ patients and 200 controls. Results: The bromodomain-containing 1 gene (BRD1), which...... encodes a putative regulator of transcription showed association with both disorders with minimal p-values of 0.0046 and 0.00001 for single marker and overall haplotype analysis, respectively. A specific BRD1 2-marker “risk” haplotype showed a frequency of ~10% in the combined case group versus ~1...

  20. Identification of susceptibility genes for bipolar affective disorder and schizophrenia on chromosome 22q13

    DEFF Research Database (Denmark)

    Severinsen, Jacob Eg

    2006-01-01

    Linkage analyses suggest that chromosome 22q12-13 may harbor one or more shared susceptibility loci for bipolar affective disorder (BPD) and schizophrenia (SZ). In a study of distantly related cases and control individuals from the Faeroe Islands our group has previously reported that chromosome 22......q13 may harbor two shared susceptibility loci for BPD and SZ. The aim of the Ph.D. project was to identify and characterize susceptibility genes for BPD and SZ located in these two loci on 22q13, primarily by association analyses of selected positional candidate genes in a number of population......-control sample (162 BPD subjects, 103 SZ subjects, 200 controls), an extension of the previously analyzed Faeroese sample (17 BPD subjects, 11 SZ subjects, 44 controls), and two replication samples, one from the UK (300 BPD subjects, 265 SZ subjects, 314 controls) and one from Denmark (124 BPD subjects, 115 SZ...

  1. Chromosome 22q a frequent site of allele loss in head and neck carcinoma

    DEFF Research Database (Denmark)

    Poli-Frederico, R C; Bergamo, N A; Reis, P P

    2000-01-01

    was to evaluate the presence of LOH on chromosome 22q11.2-13 and determine whether there was a relationship between loss in this genomic region and tumor histologic parameters, anatomic site, and survival in patients with squamous cell carcinoma of the head and neck (HNSCC). METHODS: Fifty matched blood and HNSCC...... tumor samples taken at the time of surgical treatment were evaluated for LOH by use of four microsatellite markers mapping to 22q11.2-q13. Clinical information was available for all patients. The frequency and distribution of LOH was correlated with clinical (age, sex, use of tobacco and alcohol, site...... gene (TSG) and involved in upper aerodigestive tract carcinogenesis. In particular, laryngeal tumors may harbor another putative TSG on 22q11.2-q12.3 that may play a role in aggressive stage III/IV disease....

  2. Unilateral Agenesis of the Internal Carotid Artery in CHARGE Syndrome

    Directory of Open Access Journals (Sweden)

    Tung-Ming Chang

    2010-12-01

    Full Text Available CHARGE syndrome is a multisystemic disorder comprising colobomas, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies and deafness. The CHD7 gene on chromosome 8q12.1 was recently shown to be a major gene involved in the etiology of this syndrome. We describe a girl with CHARGE syndrome who had a novel mutation of CHD7 associated with agenesis of the left internal carotid artery. She had presented with recurrent episodes of photophobia and vomiting since the age of 6 years. Since her symptoms were well controlled by cyproheptadine, migraine-like attacks were considered. CHD7 molecular confirmation in this patient provides further evidence to support the occurrence of a vascular anomaly suggested from animal models of CHARGE syndrome with molecular delineation. We report this case to emphasize the importance of neurologic signs of photophobia and to highlight the broad clinical variability in this pleiotropic disorder.

  3. Deletion lengthening at chromosomes 6q and 16q targets multiple tumor suppressor genes and is associated with an increasingly poor prognosis in prostate cancer

    DEFF Research Database (Denmark)

    Kluth, Martina; Jung, Simon; Habib, Omar

    2017-01-01

    317 patients for 6q and 16q deletion length heterogeneity and found that the deletion expanded within 50-60% of 6q and 16q deleted cancers. Taken together, these data suggest continuous "deletion lengthening" as a key mechanism for prostate cancer progression leading to parallel down regulation......Prostate cancer is characterized by recurrent deletions that can considerably vary in size. We hypothesized that large deletions develop from small deletions and that this "deletion lengthening" might have a "per se" carcinogenic role through a combinatorial effect of multiple down regulated genes.......In vitroknockdown of 37 genes located inside the 6q12-q22 deletion region identified 4 genes with additive tumor suppressive effects, further supporting a role of the deletion size for cancer aggressiveness. Employing fluorescencein-situhybridization analysis on prostate cancer tissue microarrays, we determined...

  4. The Siblings With Ischemic Stroke Study (SWISS): A Progress Report

    Science.gov (United States)

    Meschia, James F.; Kissela, Brett M.; Brott, Thomas G.; Brown, Robert D.; Worrall, Bradford B.; Beck, Jeanne; Skarp, Alexa N.

    2006-01-01

    There is increasing evidence that genetic factors are associated with ischemic stroke, including multiple recent reports of association with the gene PDE4D, encoding phosphodiesterase 4D, on chromosome 5q12. Genetic studies of stroke are important but can be logistically difficult to perform. This article reviews the design of the Siblings With Ischemic Stroke Study (SWISS) and discusses problems in performing a sibling-based pedigree study where proband-initiated consent is used to enroll pedigree members. Proband-initiated enrollment optimizes privacy protections for family members, but it is associated with a substantial pedigree non-completion rate such that 3 to 4 probands must be identified to obtain one completed sibling pedigree. This report updates the progress of enrollment in the SWISS protocol, discusses barriers to pedigree completion and describes innovative approaches used by the SWISS investigators to enhance enrollment. PMID:16595789

  5. MEK Inhibitor MEK162, Idarubicin, and Cytarabine in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia

    Science.gov (United States)

    2017-12-04

    Adult Acute Minimally Differentiated Myeloid Leukemia (M0); Adult Acute Monoblastic Leukemia (M5a); Adult Acute Monocytic Leukemia (M5b); Adult Acute Myeloblastic Leukemia With Maturation (M2); Adult Acute Myeloblastic Leukemia Without Maturation (M1); Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Adult Acute Myelomonocytic Leukemia (M4); Adult Erythroleukemia (M6a); Adult Pure Erythroid Leukemia (M6b); Recurrent Adult Acute Myeloid Leukemia

  6. Pharmacodynamics of doxycycline and tetracycline against Staphylococcus pseudintermedius

    DEFF Research Database (Denmark)

    Maaland, Marit Gaastra; Papich, Mark G.; Turnidge, John

    2013-01-01

    pharmacodynamic and target animal pharmacokinetic data were analyzed by Monte Carlo simulation (MCS) for development of MIC interpretive criteria. Optimal zone diameter breakpoints were defined using the standard error-rate bounded method.Both drugs displayed bacteriostatic activity and bimodal MIC distributions....... Doxycycline was more active on non-wild-type strains than tetracycline. MCS and target attainment analysis indicated a certainty of ≥ 90% for attaining an AUC/MIC ratio of > 25 after standard dosage of doxycycline (5 mg/kg q12h) for strains with MIC ≤ 0.125 μg/ml. Tetracycline predicted doxycycline...... susceptibility but current tetracycline breakpoints were inappropriate for interpretation of doxycycline susceptibility testing. Accordingly, dog-specific doxycycline MIC (S ≤ 0.125, I = 0.25 and R ≥ 0.5 μg/ml) and zone diameter (S ≥ 25, I= 21-24 and R ≤ 20 mm) breakpoints, and surrogate tetracycline MIC (S ≤ 0...

  7. Ewing Sarcoma/Primitive Neuroectodermal Tumor of the Kidney: Two Unusual Presentations of a Rare Tumor

    Directory of Open Access Journals (Sweden)

    E. C. Castro

    2012-01-01

    Full Text Available Only few cases of primary renal Ewing's sarcoma have been reported in the literature to date. We present here two cases of renal ES/PNET with an uncanny presentation. The first case was discovered after the patient presented clinically with irradiating flank pain, mimicking the pain related with kidney stones. The second case had clinical presentation of pulmonary thromboembolism after the patient was involved in an automobilist accident. The tumors were mainly composed of small blue cells which by immunohistochemical were positive for neural markers, and FISH revealed the translocation 22q12 for the EWSR1 gene. The diagnosis of renal primitive neuroectodermal tumor/EWING tumor is very rare and usually involves several different diagnostic techniques. The differential diagnosis is usually broad with frequent overlapping features between the entities. The cases presented in this paper illustrated the difficulties with which routine anatomical pathologist is faced when dealing with rare renal poorly differentiated neoplasm in adults.

  8. A Bayesian approach shows no correlation between transit-depth and stellar metallicity for confirmed and candidates Kepler gas giants planets

    International Nuclear Information System (INIS)

    Nehmé, C; Sarkis, P

    2017-01-01

    Previous study to investigate the correlation between the transit depth and the stellar metallicity of Kepler’s (Q1-Q12) gas giant planets (radii of 5-20R ⊙ ) has led to a weakly significant negative correlation. We use the cumulative catalog of planets detected by the NASA Kepler mission Q1-Q17 catalog, as of April 2015, to perform a solid statistical analysis of this correlation. In the present work, we revise this correlation, within a Bayesian framework, for two large samples: sample A confirmed planets and sample B (confirmed + candidates). We expand a hierarchical method to account for false positives in the studied samples. Our statistical analysis reveals no correlation between the transit depth and the stellar metallicity. This has implications for planet formation theory and interior structure of giant planets. (paper)

  9. Complete re-sequencing of a 2Mb topological domain encompassing the FTO/IRXB genes identifies a novel obesity-associated region upstream of IRX5

    DEFF Research Database (Denmark)

    Hunt, Lilian E; Noyvert, Boris; Bhaw-Rosun, Leena

    2015-01-01

    implicated in the aetiology of obesity. METHODS: Here, we sequence a 2 Mb region encompassing the FTO, RPGRIP1L and IRXB cluster genes in 284 individuals from a well-characterised study group of Danish men containing extremely overweight young adults and controls. We further replicate our findings both......BACKGROUND: Association studies have identified a number of loci that contribute to an increased body mass index (BMI), the strongest of which is in the first intron of the FTO gene on human chromosome 16q12.2. However, this region is both non-coding and under strong linkage disequilibrium, making...... in an expanded male cohort and an independent female study group. Finally, we compare our variant data with a previous study describing IRX3 and FTO interactions in this region. RESULTS: We obtain deep coverage across the entire region, allowing accurate and unequivocal determination of almost every single...

  10. Complex three-way translocation involving MLL, ELL, RREB1, and CMAHP genes in an infant with acute myeloid leukemia and t(6;19;11)(p22.2;p13.1;q23.3)

    DEFF Research Database (Denmark)

    Tuborgh, A; Meyer, C; Marschalek, R

    2013-01-01

    until progression to acute myeloid leukemia, AML-M5. The leukemic cells harbored a novel apparent 3-way translocation t(6;19;11)(p22.2;p13.1;q23.3). We utilized advanced molecular cytogenetic methods including 24-color karyotyping, high-resolution array comparative genomic hybridization (aCGH) and DNA...... sequencing to characterize the genomic complement in the leukemic cells from aspirated bone marrow cells at AML diagnosis. Karyotyping showed 47,XY,t(6;19;11)(p22;p13;q23),+der(6)t(6;11)(p22;q23)[17]/48,sl,+8[3]/48,sl,+8,der(12)t(1;12)(q11;p13)[3]/ 48,sdl,der(Y)t(Y;1)(q12;q11),+8[7] conferring MLL-ELL fusion...

  11. Ultraviolet light and mitomycin C induced sister-chromatid exchanges in fibroblasts from patients with retinoblastoma

    International Nuclear Information System (INIS)

    Takabayashi, T.; Lin, M.S.; Wilson, M.G.

    1984-01-01

    Ultraviolet light and mitomycin C (MMC) induced siter-chromatid exchanges (SCEs) were investigated in 6 diploid fibroblast strains derived from 3 patients with deletion 13 and retinoblastoma, one patient with a hereditary form of retinoblastoma, one patient with trisomy 13, and one normal control. Two fibroblast strains with del(13)(q14q22) showed a significant increase in SCEs compared to the control after UV and MMC treatments. In contrast, cell strains with del(13)(q12q14) and trisomy 13 did not show increased SCEs. The frequency of SCEs in fibroblasts from a patient with autosomal dominant retinoblastomas (no deletions) was significantly increased by UV, but not by MMC. The results suggest that cell strains with different deletions of chromosome 13 have different SCE responses to UV and MMC inductions. The cells with del(13)(q14q22) may have a DNA-repair defect. (orig.)

  12. Vorinostat in Treating Patients With Acute Myeloid Leukemia

    Science.gov (United States)

    2014-04-30

    Adult Acute Erythroid Leukemia (M6); Adult Acute Megakaryoblastic Leukemia (M7); Adult Acute Minimally Differentiated Myeloid Leukemia (M0); Adult Acute Monoblastic Leukemia (M5a); Adult Acute Monocytic Leukemia (M5b); Adult Acute Myeloblastic Leukemia With Maturation (M2); Adult Acute Myeloblastic Leukemia Without Maturation (M1); Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Adult Acute Myelomonocytic Leukemia (M4); Adult Acute Promyelocytic Leukemia (M3); Recurrent Adult Acute Myeloid Leukemia; Refractory Cytopenia With Multilineage Dysplasia; Secondary Acute Myeloid Leukemia; Untreated Adult Acute Myeloid Leukemia

  13. Genetic variation of the GLUT10 glucose transporter (SLC2A10) and relationships to type 2 diabetes and intermediary traits

    DEFF Research Database (Denmark)

    Andersen, Gitte; Rose, Christian Schack; Hamid, Yasmin Hassan

    2003-01-01

    The SLC2A10 gene encodes the GLUT10 facilitative glucose transporter, which is expressed in high amounts in liver and pancreas. The gene is mapped to chromosome 20q12-q13.1, a region that has been shown to be linked to type 2 diabetes. The gene was examined in 61 Danish type 2 diabetic patients......, and a total of six variants (-27C-->T, Ala206Thr, Ala272Ala, IVS2 + 10G-->A, IVS4 + 18T-->G, and IVS4 + 26G-->A) were identified and investigated in an association study, which included 503 type 2 diabetic patients and 510 glucose-tolerant control subjects. None of the variants were associated with type 2...... substantially to the pathogenesis of type 2 diabetes in the examined study population. However, the codon 206 polymorphism may be related to the interindividual variation in fasting and oral glucose-induced serum insulin levels....

  14. Prospective evaluation of serum pancreatic lipase immunoreactivity and troponin I concentrations in Leishmania infantum-infected dogs treated with meglumine antimonate.

    Science.gov (United States)

    Xenoulis, Panagiotis G; Saridomichelakis, Manolis N; Chatzis, Manolis K; Kasabalis, Dimitris; Petanides, Theodoros; Suchodolski, Jan S; Steiner, Jörg M

    2014-07-14

    Canine leishmaniosis (CanL) caused by Leishmania infantum is an important zoonotic disease. One of the most commonly used drugs for the treatment of CanL is meglumine antimonate. Drugs of this class have been associated with pancreatitis and cardiotoxicity in humans infected with Leishmania spp. The aim of this study was to measure serum canine pancreatic lipase immunoreactivity (Spec cPL) and cardiac troponin I (cTnI) concentrations in dogs with leishmaniosis during treatment with meglumine antimonate, and to compare them with those of dogs with leishmaniosis not treated with this drug. A total of 30 non-uremic dogs with leishmaniosis, living in Greece, were prospectively enrolled into the study. Of the 30 dogs, 20 (Group A) were treated with a combination of meglumine antimonate (100mg/kg, SC, q24 h) and allopurinol (10mg/kg, PO, q12h) for 28 days, while 10 dogs (Group B) were treated with allopurinol alone (10mg/kg, PO, q12h) for 28 days. Blood samples were collected at timepoint 0 (before treatment) and at 14 and 28 days after the initiation of treatment. None of the dogs treated with meglumine antiomonate had a Spec cPL concentration suggestive of pancreatitis (≥ 400 μg/L) or clinical signs suggestive of pancreatitis at any of the timepoints. Similarly, none of the dogs treated with meglumine antiomonate had a serum cTnI concentration above the upper limit of the reference range (>0.5 ng/mL) or clinical evidence of cardiotoxicity at any of the 3 timepoints. In the present study, meglumine antimonate treatment in dogs with leishmaniosis did not result in clinical or laboratory evidence of either pancreatitis or cardiotoxicity. Copyright © 2014 Elsevier B.V. All rights reserved.

  15. Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.

    Science.gov (United States)

    Amasdl, Saadia; Smaili, Wiam; Natiq, Abdelhafid; Hassani, Amale; Sbiti, Aziza; Agadr, Aomar; Sanlaville, Damien; Sefiani, Abdelaziz

    2017-01-01

    Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes. © 2017 S. Karger AG, Basel.

  16. The Effects of Cyclosporine and Aspirin on Platelet Function in Normal Dogs.

    Science.gov (United States)

    Thomason, J; Archer, T; Wills, R; Press, S; Mackin, A

    2016-07-01

    Cyclosporine increases thromboxane synthesis in dogs, potentially increasing the thrombogenic properties of platelets. Our hypothesis was that the concurrent administration of low-dose aspirin and cyclosporine would inhibit cyclosporine-associated thromboxane synthesis without altering the antiplatelet effects of aspirin. The objective was to determine the effects of cyclosporine and aspirin on primary hemostasis. Seven healthy dogs. A randomized, crossover study utilized turbidimetric aggregometry and a platelet function analyzer to evaluate platelet function during the administration of low-dose aspirin (1 mg/kg PO q24h), high-dose aspirin (10 mg/kg PO q12h), cyclosporine (10 mg/kg PO q12h), and combined low-dose aspirin and cyclosporine. The urine 11-dehydro-thromboxane-B2 (11-dTXB2 )-to-creatinine ratio also was determined. On days 3 and 7 of administration, there was no difference in the aggregometry amplitude or the platelet function analyzer closure time between the low-dose aspirin group and the combined low-dose aspirin and cyclosporine group. On day 7, there was a significant difference in amplitude and closure time between the cyclosporine group and the combined low-dose aspirin and cyclosporine group. High-dose aspirin consistently inhibited platelet function. On both days, there was a significant difference in the urinary 11-dTXB2 -to-creatinine ratio between the cyclosporine group and the combined low-dose aspirin and cyclosporine group. There was no difference in the urinary 11-dTXB2 -to-creatinine ratio among the low-dose aspirin, high-dose aspirin, and combined low-dose aspirin and cyclosporine groups. Low-dose aspirin inhibits cyclosporine-induced thromboxane synthesis, and concurrent use of these medications does not alter the antiplatelet effects of aspirin. Copyright © 2016 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

  17. A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

    Science.gov (United States)

    Kriek, Marjolein; Szuhai, Karoly; Kant, Sarina G; White, Stefan J; Dauwerse, Hans; Fiegler, Heike; Carter, Nigel P; Knijnenburg, Jeroen; den Dunnen, Johan T; Tanke, Hans J; Breuning, Martijn H; Rosenberg, Carla

    2006-08-01

    The presence of highly homologous sequences, known as low copy repeats, predisposes for unequal recombination within the 22q11 region. This can lead to genomic imbalances associated with several known genetic disorders. We report here a developmentally delayed patient carrying different rearrangements on both chromosome 22 homologues, including a previously unreported rearrangement within the 22q11 region. One homologue carries a deletion of the proximal part of chromosome band 22q11. To our knowledge, a 'pure' deletion of this region has not been described previously. Four copies of this 22q11 region, however, are associated with Cat eye syndrome (CES). While the phenotypic impact of this deletion is unclear, familial investigation revealed five normal relatives carrying this deletion, suggesting that haplo-insufficiency of the CES region has little clinical relevance. The other chromosome 22 homologue carries a duplication of the Velocardiofacial/DiGeorge syndrome (VCFS/DGS) region. In addition, a previously undescribed deletion of 22q12.1, located in a relatively gene-poor region, was identified. As the clinical features of patients suffering from a duplication of the VCFS/DGS region have proven to be extremely variable, it is impossible to postulate as to the contribution of the 22q12.1 deletion to the phenotype of the patient. Additional patients with a deletion within this region are needed to establish the consequences of this copy number alteration. This study highlights the value of using different genomic approaches to unravel chromosomal alterations in order to study their phenotypic impact.

  18. Molecular characterization of occult hepatitis B virus infection in patients with end-stage liver disease in Colombia.

    Directory of Open Access Journals (Sweden)

    Julio Cesar Rendon

    Full Text Available Hepatitis B virus (HBV occult infection (OBI is a risk factor to be taken into account in transfusion, hemodialysis and organ transplantation. The aim of this study was to identify and characterize at the molecular level OBI cases in patients with end-stage liver disease.Sixty-six liver samples were obtained from patients with diagnosis of end-stage liver disease submitted to liver transplantation in Medellin (North West, Colombia. Samples obtained from patients who were negative for the surface antigen of HBV (n = 50 were tested for viral DNA detection by nested PCR for ORFs S, C, and X and confirmed by Southern-Blot. OBI cases were analyzed by sequencing the viral genome to determine the genotype and mutations; additionally, viral genome integration events were examined by the Alu-PCR technique.In five cases out of 50 patients (10% the criteria for OBI was confirmed. HBV genotype F (subgenotypes F1 and F3, genotype A and genotype D were characterized in liver samples. Three integration events in chromosomes 5q14.1, 16p13 and 20q12 affecting Receptor-type tyrosine-protein phosphatase T, Ras Protein Specific Guanine Nucleotide Releasing Factor 2, and the zinc finger 263 genes were identified in two OBI cases. Sequence analysis of the viral genome of the 5 OBI cases showed several punctual missense and nonsense mutations affecting ORFs S, P, Core and X.This is the first characterization of OBI in patients with end-stage liver disease in Colombia. The OBI cases were identified in patients with HCV infection or cryptogenic cirrhosis. The integration events (5q14.1, 16p13 and 20q12 described in this study have not been previously reported. Further studies are required to validate the role of mutations and integration events in OBI pathogenesis.

  19. Administration of Voriconazole in Disseminated Talaromyces (Penicillium) Marneffei Infection: A Retrospective Study.

    Science.gov (United States)

    Ouyang, Yanyin; Cai, Shuangqi; Liang, Hao; Cao, Cunwei

    2017-06-01

    Talaromyces (Penicillium) marneffei infection is a fatal disseminated mycosis caused by the dimorphic fungus Talaromyces marneffei; the therapeutic strategies for this infectious disease are limited. The aim of this retrospective study was to evaluate the efficacy and safety of voriconazole for treating patients with disseminated T. marneffei infection with or without HIV infection in a clinical setting. Patients who intravenously received voriconazole (6 mg/kg q12 h for the first 24 h followed by 4 mg/kg q12 h) as the initial antifungal treatment were enrolled. The duration of the following antifungal treatment varied at the discretion of the investigators according to the patient responses. The primary global response was evaluated at Week 16 or at the end of treatment (EOT). Follow-up evaluations were performed at 6 months and 1 year after the EOT. Seventeen patients were enrolled in this study, but three were not evaluable because the treatment was prematurely discontinued. Among the remaining fourteen patients, ten patients had complete response and three had partial response at Week 16. Only one patient was determined to have failed response. Follow-up assessments in eleven patients showed that eight patients were cured and the remaining three patients relapsed at 6 months after the EOT. These eight patients were assessed 1 year later, and none of them had relapsed. No adverse events associated with voriconazole were recorded during the treatment. The results from our study suggest that voriconazole is an effective, well-tolerated therapeutic option for disseminated T. marneffei infection.

  20. Pharmacokinetic/pharmacodynamic analysis of voriconazole against Candida spp. and Aspergillus spp. in children, adolescents and adults by Monte Carlo simulation.

    Science.gov (United States)

    Xu, Gaoqi; Zhu, Liqin; Ge, Tingyue; Liao, Shasha; Li, Na; Qi, Fang

    2016-06-01

    The objective of this study was to investigate the cumulative fraction of response of various voriconazole dosing regimens against six Candida and six Aspergillus spp. in immunocompromised children, immunocompromised adolescents, and adults. Using pharmacokinetic parameters and pharmacodynamic data, 5000-subject Monte Carlo simulations (MCSs) were conducted to evaluate the ability of simulated dosing strategies in terms of fAUC/MIC targets of voriconazole. According to the results of the MCSs, current voriconazole dosage regimens were all effective for children, adolescents and adults against Candida albicans, Candida parapsilosis and Candida orthopsilosis. For adults, dosing regimens of 4 mg/kg intravenous every 12 h (q12h) and 300 mg orally q12h were sufficient to treat fungal infections by six Candida spp. (C. albicans, C. parapsilosis, Candida tropicalis, Candida glabrata, Candida krusei and C. orthopsilosis) and five Aspergillus spp. (Aspergillus fumigatus, Aspergillus flavus, Aspergillus terreus, Aspergillus niger and Aspergillus nidulans). However, high doses should be recommended for children and adolescents in order to achieve better clinical efficacy against A. fumigatus and A. nidulans. The current voriconazole dosage regimens were all ineffective against A. niger for children and adolescents. All voriconazole dosage regimens were not optimal against Aspergillus versicolor. This is the first study to evaluate clinical therapy of various voriconazole dosing regimens against Candida and Aspergillus spp. infections in children, adolescents and adults using MCS. The pharmacokinetic/pharmacodynamic-based dosing strategy provided a theoretical rationale for identifying optimal voriconazole dosage regimens in children, adolescents and adults in order to maximise clinical response and minimise the probability of exposure-related toxicity. Copyright © 2016 Elsevier B.V. and International Society of Chemotherapy. All rights reserved.

  1. Assessment of In Vivo Efficacy of Eravacycline against Enterobacteriaceae Exhibiting Various Resistance Mechanisms: A Dose-Ranging Study and PK/PD Analysis.

    Science.gov (United States)

    Thabit, Abrar K; Monogue, Marguerite L; Newman, Joseph V; Nicolau, David P

    2018-01-08

    After the pharmacokinetic (PK) profile of eravacycline as a novel fluorocycline was defined, understanding its pharmacodynamic (PD) profile became essential. The aim of this study was to assess the correlation of the PK/PD index of the area under free drug concentration-time curve above the minimum inhibitory concentration (fAUC/MIC) and its magnitude with eravacycline's efficacy against Enterobacteriaceae isolates using the immunocompetent murine thigh infection model to resemble the immunocompetent environment in eravacycline's clinical trials. Eight Enterobacteriaceae isolates with various resistance mechanisms were selected and tested. Eravacycline doses ranged 1-10 mg/kg/day and were given either once daily or divided into q12h doses over the 24h treatment period. Antibacterial efficacy was measured as the change in log 10 CFU at 24h compared with 0h controls. Composite data were modeled using a sigmoid E max model. Eravacycline MICs ranged 0.125-0.5 µg/ml. The mean fAUC/MIC magnitudes required for stasis and 1-log reduction for the eight isolates were 2.9 ± 3.1 and 5.6 ± 5.0, respectively. While the humanized eravacycline regimen (2.5 mg/kg q12h) pharmacokinetically achieves a fAUC 0-24 that is higher than the fAUC 0-24 achieved with the 5 mg/kg q24h dose, the latter was associated with higher efficacy raising a suggestive correlation of the free peak drug concentration to the MIC (fC max /MIC) index with eravacycline's efficacy. This study showed that the magnitudes associated with the efficacy of eravacycline in the immunocompetent murine thigh model appear to be close to achievable targets in human. These data support further development of eravacycline for the treatment of infections caused by drug-resistant Enterobacteriaceae. Copyright © 2018 Elsevier B.V. and International Society of Chemotherapy. All rights reserved.

  2. Intensive intravenous infusion of insulin in diabetic cats.

    Science.gov (United States)

    Hafner, M; Dietiker-Moretti, S; Kaufmann, K; Mueller, C; Lutz, T A; Reusch, C E; Zini, E

    2014-01-01

    Remission occurs in 10-50% of cats with diabetes mellitus (DM). It is assumed that intensive treatment improves β-cell function and increases remission rates. Initial intravenous infusion of insulin that achieves tight glycemic control decreases subsequent insulin requirements and increases remission rate in diabetic cats. Thirty cats with newly diagnosed DM. Prospective study. Cats were randomly assigned to one of 2 groups. Cats in group 1 (n = 15) received intravenous infusion of insulin with the goal of maintaining blood glucose concentrations at 90-180 mg/dL, for 6 days. Cats in group 2 (n = 15) received subcutaneous injections of insulin glargine (cats ≤4 kg: 0.5-1.0 IU, q12h; >4 kg 1.5-2.0 IU, q12h), for 6 days. Thereafter, all cats were treated with subcutaneous injections of insulin glargine and followed up for 6 months. Cats were considered in remission when euglycemia occurred for ≥4 weeks without the administration of insulin. Nonparametric tests were used for statistical analysis. In groups 1 and 2, remission was achieved in 10/15 and in 7/14 cats (P = .46), and good metabolic control was achieved in 3/5 and in 1/7 cats (P = .22), respectively. Overall, good metabolic control or remission occurred in 13/15 cats of group 1 and in 8/14 cats of group 2. In group 1, the median insulin dosage given during the 6-month follow-up was significantly lower than in group 2 (group 1: 0.32 IU/kg/day, group 2: 0.51 IU/kg/day; P = .013). Initial intravenous infusion of insulin for tight glycemic control in cats with DM decreases insulin requirements during the subsequent 6 months. Copyright © 2014 by the American College of Veterinary Internal Medicine.

  3. Respiratory Tract Infection Caused by Fonsecaea monophora After Kidney Transplantation.

    Science.gov (United States)

    Cleinman, Isabella Barbosa; Gonçalves, Sarah Santos; Nucci, Marcio; Quintella, Danielle Carvalho; Halpern, Márcia; Akiti, Tiyomi; Barreiros, Glória; Colombo, Arnaldo Lopes; Santoro-Lopes, Guilherme

    2017-12-01

    Fonsecaea spp. are melanized fungi which cause most cases of chromoblastomycosis. The taxonomy of this genus has been revised, now encompassing four species, with different pathogenic potential: F. pedrosoi, F. nubica, F. pugnacius, and F. monophora. The latter two species present wider clinical spectrum and have been associated with cases of visceral infection, most often affecting the brain. To our knowledge, this is the first report of proven case of F. monophora respiratory tract infection. A Brazilian 57-year-old-female patient underwent kidney transplantation on January 12, 2013. On the fourth postoperative month, the patient presented with fever, productive cough, and pleuritic pain in the right hemithorax. A thoracic CT scan showed a subpleural 2.2-cm nodular lesion in the right lung lower lobe, with other smaller nodules (0.5-0.7 cm) scattered in both lungs. Bronchoscopy revealed a grayish plaque on the right bronchus which was biopsied. Microscopic examination demonstrated invasion of bronchial mucosa by pigmented hyphae. Culture from the bronchial biopsy and bronchoalveolar lavage samples yielded a melanized mold, which was eventually identified as F. monophora. She started treatment with voriconazole (400 mg q.12h on the first day, followed by 200 mg q.12h). After 4 weeks of therapy, voriconazole dose was escalated to 200 mg q.8h and associated with amphotericin B (deoxycolate 1 mg/kg/day) because of a suspected dissemination to the brain. The patient eventually died of sepsis 8 weeks after the start of antifungal therapy. In conclusion, F. monophora may cause respiratory tract infection in solid organ transplant recipients.

  4. Construction of a DNA library representing 15q11-13 by subtraction of two flow sorted marker chromosome-specific libraries

    Energy Technology Data Exchange (ETDEWEB)

    Blennow, E.; Werelius, B.; Nordenskjoeld, M. [Karolinska Hospital, Stockholm (Sweden)] [and others

    1994-09-01

    Constitutional extra {open_quotes}marker chromosomes{close_quotes} are found in {approx}0.5/1000 of newborns. Of these, 50% are inverted duplications of the pericentromeric region of chromosome 15, including two variants; (1) inv dup(15)(pter{yields}q11:q11{yields}pter) and (2) inv dup(15) (pter{yields}q12-13::q12-13{yields}pter). Variant (1) is found in phenotypically normal individuals, whereas variant (2) will produce a typical clinical picture including mental retardation, autism, hyperactivity and discrete dysmorphic features. Fluorescence in situ hybridization (FISH) using single copy probes from the Prader-Willi region confirms these observations as well as chromosome painting using a flow-sorted marker chromosome-specific library from a variant (1) marker, hybridized to the chromosomes of a patient with a variant (2) marker chromosome. Followingly, a flow-sorted biotinylated variant (1) library was subtracted from a non-labeled variant (2) library using magnetic beads and subsequent amplification by degenerate oligonucleotide-primed PCR (DOP-PCR). The successful result was demonstrated by using the amplified material for chromosome painting on chromosome slides from variant (1) and variant (2) patients. We have constructed a library from 15q11-13. This region contains genes producing a specific abnormal phenotype when found in a tri- or tetrasomic state. The region also contains the genes responsible for the Prader-Willi and Angelman syndromes when the paternal/maternal copy is missing, respectively. It is therefore a region where parental imprinting plays an important role. The isolated library may be used to isolate single copy clones which will allow further investigations of this region.

  5. Safety and clinical effectiveness of a compounded sustained-release formulation of buprenorphine for postoperative analgesia in New Zealand White rabbits.

    Science.gov (United States)

    DiVincenti, Louis; Meirelles, Luiz A D; Westcott, Robin A

    2016-04-01

    To determine the clinical effectiveness and safety of a compounded sustained-release formulation of buprenorphine, compared with effects of regular buprenorphine, for postoperative analgesia in rabbits. Blinded randomized controlled clinical trial. 24 purpose-bred adult male New Zealand White rabbits. Rabbits received titanium implants in each tibia as part of another study. Immediately prior to surgery, each rabbit received regular buprenorphine hydrochloride (0.02 mg/kg [0.009 mg/lb], SC, q 12 h for 3 days) or 1 dose of a compounded sustained-release formulation of buprenorphine (0.12 mg/kg [0.055 mg/lb], SC) followed by an equal volume of saline (0.9% NaCl) solution (SC, q 12 h for 3 days) after surgery. For 7 days after surgery, rabbits were evaluated for signs of pain by means of rabbit grimace and activity scoring and for adverse effects. No significant differences were identified between treatment groups in grimace and activity scores at any point. No major adverse effects were detected for either drug. However, 3 rabbits that received regular buprenorphine had pain scores suggestive of moderate to severe pain by the time dose administration was due (ie, within the 12-hour administration interval). No clinically important differences were detected in intraoperative anesthetic or postoperative recovery variables. Sustained-release buprenorphine administered SC at 0.12 mg/kg was at least as effective as regular buprenorphine in providing analgesia for rabbits following orthopedic surgery without any major adverse effects. This sustained-release formulation represents an important alternative for rabbit analgesia with potential to improve rabbit welfare over existing analgesic standards.

  6. Antibiotic prophylaxis after endoscopic therapy prevents rebleeding in acute variceal hemorrhage: a randomized trial.

    Science.gov (United States)

    Hou, Ming-Chih; Lin, Han-Chieh; Liu, Tsu-Te; Kuo, Benjamin Ing-Tieu; Lee, Fa-Yauh; Chang, Full-Young; Lee, Shou-Dong

    2004-03-01

    Bacterial infection may adversely affect the hemostasis of patients with gastroesophageal variceal bleeding (GEVB). Antibiotic prophylaxis can prevent bacterial infection in such patients, but its role in preventing rebleeding is unclear. Over a 25-month period, patients with acute GEVB but without evidence of bacterial infection were randomized to receive prophylactic antibiotics (ofloxacin 200 mg i.v. q12h for 2 days followed by oral ofloxacin 200 mg q12h for 5 days) or receive antibiotics only when infection became evident (on-demand group). Endoscopic therapy for the GEVB was performed immediately after infection work-up and randomization. Fifty-nine patients in the prophylactic group and 61 patients in the on-demand group were analyzed. Clinical and endoscopic characteristics of the gastroesophageal varices, time to endoscopic treatment, and period of follow-up were not different between the two groups. Antibiotic prophylaxis decreased infections (2/59 vs. 16/61; P actuarial probability of rebleeding was higher in patients without prophylactic antibiotics (P =.0029). The difference of rebleeding was mostly due to early rebleeding within 7 days (4/12 vs. 21/27, P =.0221). The relative hazard of rebleeding within 7 days was 5.078 (95% CI: 1.854-13.908, P <.0001). The multivariate Cox regression indicated bacterial infection (relative hazard: 3.85, 95% CI: 1.85-13.90) and association with hepatocellular carcinoma (relative hazard: 2.46, 95% CI: 1.30-4.63) as independent factors predictive of rebleeding. Blood transfusion for rebleeding was also reduced in the prophylactic group (1.40 +/- 0.89 vs. 2.81 +/- 2.29 units, P <.05). There was no difference in survival between the two groups. In conclusion, antibiotic prophylaxis can prevent infection and rebleeding as well as decrease the amount of blood transfused for patients with acute GEVB following endoscopic treatment.

  7. Malformation/dysplasia syndrome (neural tube defect, hypospadias neuroblastoma) associated with an extra dicentric marker chromosome 15 ({open_quotes}inversion duplication 15{close_quotes})

    Energy Technology Data Exchange (ETDEWEB)

    Reitnauer, P.J.; Rao, K.W.; Tepperberg, J.H. [Univ. of North Carolina, Chapel Hill, NC (United States)

    1994-09-01

    Extra dicentric 15 marker chromosomes are associated with variable degrees of mental retardation but not major structural birth defects. We have studied a unique patient, a male infant who was prenatally diagnosed with lumbar meningomyelocele and an extra pseudodicentric marker chromosome: 47,XY,+psu dic(15)t(15;15)(?q12,?q12)mat. Hairy ears and a coronal hypospadias were noted at birth. At three months of age, a stage I thoracic neuroblastoma was primarily resected. Tumor cells, skin fibroblasts and peripheral blood lymphocytes contained the dicentric 15. The mother is mosaic for the marker chromosome. Fluorescence in situ hybridization (FISH) studies using a classic 15 satellite probe (D15Z1 [Oncor]) confirmed the presence of 2 number 15 centromeres in the marker. The marker is felt to be the result of a translocation rather than an inverted duplication because the G-band morphology of the short arm/satellite complexes differ from one another, implying that the arms originate from 2 different number 15s. FISH analysis using cosmid probes for the Prader-Willi/Angelman critical region (D15S11 and GABRB3 [Oncor]) revealed 2 copies of this region, indicating that these loci are duplicated in the marker. Although some features of the patient`s phenotype such as developmental delay and hypotonia have been associated with dicentric chromosome 15 markers, this is the first malformation/dysplasia syndrome or neuroblastoma reported to our knowledge. The association of neuroblastoma with chromosome 15 aberrations in this case provides speculation as to the role of chromosome 15 loci in cell division control.

  8. Single- and multiple-dose study to determine the safety, tolerability, and pharmacokinetics of ceftaroline fosamil in combination with avibactam in healthy subjects.

    Science.gov (United States)

    Riccobene, Todd A; Su, Sheng Fang; Rank, Douglas

    2013-03-01

    This study was conducted to determine the safety, tolerability, and pharmacokinetics of intravenous doses of ceftaroline fosamil administered in combination with the novel non-β-lactam β-lactamase inhibitor avibactam in healthy adults. In the single-dose, open-label arm, 12 subjects received single 1-h intravenous infusions of ceftaroline fosamil alone (600 mg), avibactam alone (600 mg), and ceftaroline fosamil in combination with avibactam (600/600 mg) separated by 5-day washout periods. In the multiple-dose, placebo-controlled, double-blind arm, 48 subjects received intravenous infusions of ceftaroline fosamil/avibactam at 600/600 mg every 12 h (q12h), 400/400 mg q8h, 900/900 mg q12h, 600/600 mg q8h, or placebo for 10 days. Ceftaroline and avibactam levels in plasma and urine were measured by liquid chromatography coupled with tandem mass spectrometry. No significant differences in systemic exposure of ceftaroline or avibactam were observed when the drugs were administered alone versus concomitantly, indicating that there was no apparent pharmacokinetic interaction between ceftaroline fosamil and avibactam administered as a single dose. No appreciable accumulation of either drug occurred with multiple intravenous doses of ceftaroline fosamil/avibactam, and pharmacokinetic parameters for ceftaroline and avibactam were similar on days 1 and 10. Infusions of ceftaroline fosamil/avibactam were well tolerated at total daily doses of up to 1,800 mg of each compound, and all adverse events (AEs) were mild to moderate in severity. Infusion-site reactions were the most common AEs reported with multiple dosing. The pharmacokinetic and safety profiles of ceftaroline fosamil/avibactam demonstrate that the 2 drugs can be administered concomitantly to provide an important broad-spectrum antimicrobial treatment option.

  9. CANVAS 1 and 2: analysis of clinical response at day 3 in two phase 3 trials of ceftaroline fosamil versus vancomycin plus aztreonam in treatment of acute bacterial skin and skin structure infections.

    Science.gov (United States)

    Friedland, H David; O'Neal, Tanya; Biek, Donald; Eckburg, Paul B; Rank, Douglas R; Llorens, Lily; Smith, Alex; Witherell, Gary W; Laudano, Joseph B; Thye, Dirk

    2012-05-01

    Scientific and regulatory interest in assessing clinical endpoints after 48 to 72 h of treatment for acute bacterial skin and skin structure infections (ABSSSI) has increased. Historical, pre-antibiotic-era data suggest that a treatment effect relative to untreated controls can be discerned in this time interval. Ceftaroline fosamil, a broad-spectrum bactericidal cephalosporin with activity against Gram-positive organisms, including methicillin-resistant Staphylococcus aureus (MRSA), and Gram-negative organisms was efficacious in two phase 3 trials of complicated skin infections (CANVAS 1 and 2) using clinical cure rates at the test-of-cure visit. To assess an early clinical response in the CANVAS trials, a retrospective analysis using a day 3 clinical endpoint was conducted. Adults with ABSSSI received intravenous ceftaroline fosamil at 600 mg every 12 h (q12h) or vancomycin at 1 g plus aztreonam at 1 g (V/A) q12h for 5 to 14 days. Clinical response at day 3, defined as cessation of infection spread and absence of fever, was analyzed in patients with a lesion size of ≥ 75 cm(2) and either deep and/or extensive cellulitis, major abscess, or an infected wound. Day 3 integrated CANVAS clinical response rates were 74.0% (296/400) for ceftaroline and 66.2% (263/397) for V/A (difference, 7.8%; 95% confidence interval [CI], 1.3% to 14.0%). In the individual studies, absolute treatment differences of 9.4% (CANVAS 1) and 5.9% (CANVAS 2) favoring ceftaroline were observed. For ABSSSI due to MRSA, response rates were 81.7% and 77.4% in the ceftaroline and V/A groups, respectively. In this retrospective analysis, ceftaroline fosamil monotherapy had a numerically higher clinical response than V/A at day 3 in the treatment of ABSSSI.

  10. Chromosomes 4 and 8 Implicated in a Genome Wide SNP Linkage Scan of 762 Prostate Cancer Families Collected by the ICPCG

    Science.gov (United States)

    Lu, Lingyi; Cancel-Tassin, Geraldine; Valeri, Antoine; Cussenot, Olivier; Lange, Ethan M.; Cooney, Kathleen A.; Farnham, James M.; Camp, Nicola J.; Cannon-Albright, Lisa A.; Tammela, Teuvo L.J.; Schleutker, Johanna; Hoegel, Josef; Herkommer, Kathleen; Maier, Christiane; Vogel, Walther; Wiklund, Fredrik; Emanuelsson, Monica; Grönberg, Henrik; Wiley, Kathleen E.; Isaacs, Sarah D.; Walsh, Patrick C.; Helfand, Brian T.; Kan, Donghui; Catalona, William J.; Stanford, Janet L.; FitzGerald, Liesel M.; Johanneson, Bo; Deutsch, Kerry; McIntosh, Laura; Ostrander, Elaine A.; Thibodeau, Stephen N.; McDonnell, Shannon K.; Hebbring, Scott; Schaid, Daniel J.; Whittemore, Alice S.; Oakley-Girvan, Ingrid; Hsieh, Chih-Lin; Powell, Isaac; Bailey-Wilson, Joan E.; Carpten, John D.; Seminara, Daniela; Zheng, S. Lilly; Xu, Jianfeng; Giles, Graham G.; Severi, Gianluca; Hopper, John L.; English, Dallas R.; Foulkes, William D.; Maehle, Lovise; Moller, Pal; Badzioch, Michael D.; Edwards, Steve; Guy, Michelle; Eeles, Ros; Easton, Douglas; Isaacs, William B.

    2012-01-01

    Background In spite of intensive efforts, understanding of the genetic aspects of familial prostate cancer remains largely incomplete. In a previous microsatellite-based linkage scan of 1233 prostate cancer (PC) families, we identified suggestive evidence for linkage (i.e. LOD≥1.86) at 5q12, 15q11, 17q21, 22q12, and two loci on 8p, with additional regions implicated in subsets of families defined by age at diagnosis, disease aggressiveness, or number of affected members. Methods In an attempt to replicate these findings and increase linkage resolution, we used the Illumina 6000 SNP linkage panel to perform a genome-wide linkage scan of an independent set of 762 multiplex PC families, collected by 11 ICPCG groups. Results Of the regions identified previously, modest evidence of replication was observed only on the short arm of chromosome 8, where HLOD scores of 1.63 and 3.60 were observed in the complete set of families and families with young average age at diagnosis, respectively. The most significant linkage signals found in the complete set of families were observed across a broad, 37 cM interval on 4q13-25, with LOD scores ranging from 2.02 to 2.62, increasing to 4.50 in families with older average age at diagnosis. In families with multiple cases presenting with more aggressive disease, LOD scores over 3.0 were observed at 8q24 in the vicinity of previously identified common PC risk variants, as well as MYC, an important gene in PC biology. Conclusions These results will be useful in prioritizing future susceptibility gene discovery efforts in this common cancer. PMID:21748754

  11. Genome-wide linkage analysis of 1233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses

    Science.gov (United States)

    Christensen, G. Bryce; Baffoe-Bonnie, Agnes B.; George, Asha; Powell, Isaac; Bailey-Wilson, Joan E.; Carpten, John D.; Giles, Graham G.; Hopper, John L.; Severi, Gianluca; English, Dallas R.; Foulkes, William D.; Maehle, Lovise; Moller, Pal; Eeles, Ros; Easton, Douglas; Badzioch, Michael D.; Whittemore, Alice S.; Oakley-Girvan, Ingrid; Hsieh, Chih-Lin; Dimitrov, Latchezar; Xu, Jianfeng; Stanford, Janet L.; Johanneson, Bo; Deutsch, Kerry; McIntosh, Laura; Ostrander, Elaine A.; Wiley, Kathleen E.; Isaacs, Sarah D.; Walsh, Patrick C.; Isaacs, William B.; Thibodeau, Stephen N.; McDonnell, Shannon K.; Hebbring, Scott; Schaid, Daniel J.; Lange, Ethan M.; Cooney, Kathleen A.; Tammela, Teuvo L.J.; Schleutker, Johanna; Paiss, Thomas; Maier, Christiane; Grönberg, Henrik; Wiklund, Fredrik; Emanuelsson, Monica; Farnham, James M.; Cannon-Albright, Lisa A.; Camp, Nicola J.

    2012-01-01

    Background Prostate cancer is generally believed to have a strong inherited component, but the search for susceptibility genes has been hindered by the effects of genetic heterogeneity. The recently developed sumLINK and sumLOD statistics are powerful tools for linkage analysis in the presence of heterogeneity. Methods We performed a secondary analysis of 1233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics (ICPCG) using two novel statistics, the sumLINK and sumLOD. For both statistics, dominant and recessive genetic models were considered. False discovery rate (FDR) analysis was conducted to assess the effects of multiple testing. Results Our analysis identified significant linkage evidence at chromosome 22q12, confirming previous findings by the initial conventional analyses of the same ICPCG data. Twelve other regions were identified with genomewide suggestive evidence for linkage. Seven regions (1q23, 5q11, 5q35, 6p21, 8q12, 11q13, 20p11-q11) are near loci previously identified in the initial ICPCG pooled data analysis or the subset of aggressive prostate cancer (PC) pedigrees. Three other regions (1p12, 8p23, 19q13) confirm loci reported by others, and two (2p24, 6q27) are novel susceptibility loci. FDR testing indicates that over 70% of these results are likely true positive findings. Statistical recombinant mapping narrowed regions to an average of 9 cM. Conclusions Our results represent genomic regions with the greatest consistency of positive linkage evidence across a very large collection of high-risk prostate cancer pedigrees using new statistical tests that deal powerfully with heterogeneity. These regions are excellent candidates for further study to identify prostate cancer predisposition genes. PMID:20333727

  12. High-Resolution Mapping of Genomic Imbalance and Identification of Gene Expression Profiles Associated with Differential Chemotherapy Response in Serous Epithelial Ovarian Cancer

    Directory of Open Access Journals (Sweden)

    Marcus Bernardini

    2005-06-01

    Full Text Available Array comparative genomic hybridization (aCGH and microarray expression profiling were used to subclassify DNA and RNA alterations associated with differential response to chemotherapy in ovarian cancer. Two to 4 Mb interval arrays were used to map genomic imbalances in 26 sporadic serous ovarian tumors. Cytobands 1p36, iq42-44, 6p22.1-p21.2, 7q32.1-q34 9q33.3-q34.3, 11p15.2, 13q12.2-q13.1, 13q21.31, 17q11.2, 17q24.2-q25.3, 18q12.2, and 21q21.2-q21.3 were found to be statistically associated with chemotherapy response, and novel regions of loss at 15g11.2q15.1 and 17q21.32-q21.33 were identified. Gene expression profiles were obtained from a subset of these tumors and identified a group of genes whose differential expression was significantly associated with drug resistance. Within this group, five genes (GAPD, HMGB2, HSC70, GRP58, and HMGB1, previously shown to form a nuclear complex associated with resistance to DNA conformation-altering chemotherapeutic drugs in in vitro systems, may represent a novel class of genes associated with in vivo drug response in ovarian cancer patients. Although RNA expression change indicated only weak DNA copy number dependence, these data illustrate the value of molecular profiling at both the RNA and DNA levels to identify small genomic regions and gene subsets that could be associated with differential chemotherapy response in ovarian cancer.

  13. Over-representation of specific regions of chromosome 22 in cells from human glioma correlate with resistance to 1,3-bis(2-chloroethyl-1-nitrosourea

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    Scheck Adrienne C

    2006-01-01

    Full Text Available Abstract Background Glioblastoma multiforme is the most malignant form of brain tumor. Despite treatment including surgical resection, adjuvant chemotherapy, and radiation, these tumors typically recur. The recurrent tumor is often resistant to further therapy with the same agent, suggesting that the surviving cells that repopulate the tumor mass have an intrinsic genetic advantage. We previously demonstrated that cells selected for resistance to 1,3-bis(2-chloroethyl-1-nitrosourea (BCNU are near-diploid, with over-representation of part or all of chromosomes 7 and 22. While cells from untreated gliomas often have over-representation of chromosome 7, chromosome 22 is typically under-represented. Methods We have analyzed cells from primary and recurrent tumors from the same patient before and after in vitro selection for resistance to clinically relevant doses of BCNU. Karyotypic analyses were done to demonstrate the genetic makeup of these cells, and fluorescent in situ hybridization analyses have defined the region(s of chromosome 22 retained in these BCNU-resistant cells. Results Karyotypic analyses demonstrated that cells selected for BCNU resistance were near-diploid with over-representation of chromosomes 7 and 22. In cells where whole copies of chromosome 22 were not identified, numerous fragments of this chromosome were retained and inserted into several marker and derivative chromosomes. Fluorescent in situ hybridization analyses using whole chromosome paints confirmed this finding. Additional FISH analysis using bacterial artificial chromosome probes spanning the length of chromosome 22 have allowed us to map the over-represented region to 22q12.3–13.32. Conclusion Cells selected for BCNU resistance either in vivo or in vitro retain sequences mapped to chromosome 22. The specific over-representation of sequences mapped to 22q12.3–13.32 suggest the presence of a DNA sequence important to BCNU survival and/or resistance located in

  14. Total and unbound ceftriaxone pharmacokinetics in critically ill Australian Indigenous patients with severe sepsis.

    Science.gov (United States)

    Tsai, Danny; Stewart, Penelope; Goud, Rajendra; Gourley, Stephen; Hewagama, Saliya; Krishnaswamy, Sushena; Wallis, Steven C; Lipman, Jeffrey; Roberts, Jason A

    2016-12-01

    In the absence of specific data to guide optimal dosing, this study aimed to describe the pharmacokinetics of ceftriaxone in severely septic Australian Indigenous patients and to assess achievement of the pharmacodynamic target of the regimens prescribed. A pharmacokinetic study was conducted in a remote hospital intensive care unit in patients receiving ceftriaxone dosing of 1 g every 12 h (q12h). Serial blood and urine samples were collected over one dosing interval on two consecutive days. Samples were assayed using a validated chromatography method for total and unbound concentrations. Concentration-time data collected were analysed with a non-compartmental approach. A total of 100 plasma samples were collected from five subjects. Ceftriaxone clearance, volume of distribution at steady-state, elimination half-life and elimination rate constant estimates were 0.9 (0.6-1.5) L/h, 11.2 (7.6-13.4) L, 9.5 (3.2-10.2) h and 0.07 (0.07-0.21) h -1 , respectively. The unbound fraction of ceftriaxone ranged between 14% and 43%, with a higher unbound fraction present at higher total concentrations. The unbound concentrations at 720 min from the initiation of infusion for the first and second dosing intervals were 7.2 (4.8-10.7) mg/L and 7.8 (4.7-12.1) mg/L respectively, which exceeds the minimum inhibitory concentration of all typical target pathogens. In conclusion, the regimen of ceftriaxone 1 g q12h is adequate for critically ill Australian Indigenous patients with severe sepsis caused by non-resistant pathogens. Crown Copyright © 2016. Published by Elsevier B.V. All rights reserved.

  15. Vancomycin versus linezolid in the treatment of methicillin-resistant Staphylococcus aureus meningitis in an experimental rabbit model.

    Science.gov (United States)

    Calik, Sebnem; Turhan, Tuncer; Yurtseven, Taskin; Sipahi, Oguz Resat; Buke, Cagri

    2012-11-01

    The aim of this study was to compare the antibacterial efficacy of vancomycin and linezolid in a rabbit model of methicillin-resistant Staphylococcus aureus (MRSA) meningitis. Meningitis was induced by intracisternal inoculation of ATCC 43300 strain. After 16 h incubation time and development of meningitis, the vancomycin group received vancomycin 20 mg/kg every 12 h. The linezolid-10 and linezolid-20 groups received linezolid in 10 and 20 mg/kg dosages every 12 h, respectively. The control group did not receive any antibiotics. Cerebrospinal fluid bacterial counts were measured at the end of 16-h incubation time and at the end of 24-h treatment. Bacterial counts were similar in all groups at 16 h. At the end of treatment the decrease in bacterial counts in the vancomycin group was approximately 2 logs higher than the linezolid-20 group (p>0.05) and approximately 4 logs higher than in the linezolid-10 group (p: 0.037) (Vancomycin group: -2.860 ± 4.495 versus Linezolid-20: -0.724 ± 4.360, versus Linezolid-10: 1.39 ± 3.37). Full or partial bacteriological response was higher in vancomycin versus linezolid-10 (p: 0.01), but not vancomycin versus linezolid-20 or linezolid-10 versus-linezolid-20 groups. Our results suggest that linezolid is not statistically inferior to vancomycin in the treatment of MRSA meningitis in an experimental rabbit model in 20 mg/kg q12 h dosage; however, it is inferior in 10 mg/kg q12 h dosage. Additional data should gathered to confirm these findings in advance of clinical trials to assess efficacy in humans.

  16. Loss of heterozygosity and microsatellite instability as predictive markers among Iranian esophageal cancer patients

    Directory of Open Access Journals (Sweden)

    Mohammad Mahdi Forghanifard

    2016-07-01

    Full Text Available Objective(s: Variation in microsatellite sequences that are dispersed in the genome has been linked to a deficiency in cellular mismatch repair system and defects in several genes of this system are involved in carcinogenesis. Our aim in this study was to illustrate microsatellite DNA alteration in esophageal cancer. Materials and Methods: DNA was extracted from formalin fixed paraffin embedded (FFPE tissues from surgical and matched margin-normal samples. Microsatellite instability (MSI and loss of heterozygosity (LOH were studied in 50 cases of esophageal squamous cell carcinoma (ESCC by amplifying six microsatellite markers: D13S260 (13q12.3, D13S267 (13q12.3, D9S171 (9p21, D2S123 (2p, D5S2501 (5q21 and TP53 (17p13.1 analyzed on 6% denaturing polyacrylamide gel electrophoresis. Results: Statistical analysis indicated a near significant reverse correlation between grade and LOH (P= 0.068, correlation coefficient= -0.272. Specifically, increased LOH in tumor DNA has a significant correlation with increased differentiation from poorly differentiated to well differentiated tumors (P= 0.002 and P= 0.016 respectively. In addition, higher number of chromosomal loci with LOH showed a reverse correlation with lymph node metastasis (P= 0.026, correlation coefficient= -0.485. Furthermore, there was a positive correlation between addiction and MSI (P= 0.026, correlation coefficient= 0.465. Conclusion: Microsatellite DNA alterations may be a prognostic tool for detection and the evolution of prognosis in patients with SCC of esophagus. It can be concluded that regional lymph node metastasis would be less likely with increased heterozygote loci and addiction with any of opium, cigarette, water pipe or alcohol can be a susceptibility factor(s for MSI.

  17. Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers.

    Science.gov (United States)

    Zheng, Yonglan; Ogundiran, Temidayo O; Falusi, Adeyinka G; Nathanson, Katherine L; John, Esther M; Hennis, Anselm J M; Ambs, Stefan; Domchek, Susan M; Rebbeck, Timothy R; Simon, Michael S; Nemesure, Barbara; Wu, Suh-Yuh; Leske, Maria Cristina; Odetunde, Abayomi; Niu, Qun; Zhang, Jing; Afolabi, Chibuzor; Gamazon, Eric R; Cox, Nancy J; Olopade, Christopher O; Olopade, Olufunmilayo I; Huo, Dezheng

    2013-07-01

    Numerous single nucleotide polymorphisms (SNPs) associated with breast cancer susceptibility have been identified by genome-wide association studies (GWAS). However, these SNPs were primarily discovered and validated in women of European and Asian ancestry. Because linkage disequilibrium is ancestry-dependent and heterogeneous among racial/ethnic populations, we evaluated common genetic variants at 22 GWAS-identified breast cancer susceptibility loci in a pooled sample of 1502 breast cancer cases and 1378 controls of African ancestry. None of the 22 GWAS index SNPs could be validated, challenging the direct generalizability of breast cancer risk variants identified in Caucasians or Asians to other populations. Novel breast cancer risk variants for women of African ancestry were identified in regions including 5p12 (odds ratio [OR] = 1.40, 95% confidence interval [CI] = 1.11-1.76; P = 0.004), 5q11.2 (OR = 1.22, 95% CI = 1.09-1.36; P = 0.00053) and 10p15.1 (OR = 1.22, 95% CI = 1.08-1.38; P = 0.0015). We also found positive association signals in three regions (6q25.1, 10q26.13 and 16q12.1-q12.2) previously confirmed by fine mapping in women of African ancestry. In addition, polygenic model indicated that eight best markers in this study, compared with 22 GWAS-identified SNPs, could better predict breast cancer risk in women of African ancestry (per-allele OR = 1.21, 95% CI = 1.16-1.27; P = 9.7 × 10(-16)). Our results demonstrate that fine mapping is a powerful approach to better characterize the breast cancer risk alleles in diverse populations. Future studies and new GWAS in women of African ancestry hold promise to discover additional variants for breast cancer susceptibility with clinical implications throughout the African diaspora.

  18. Trans fatty acid isomers and the trans-9/trans-11 index in fat containing foods

    Science.gov (United States)

    Kuhnt, Katrin; Baehr, Melanie; Rohrer, Carsten; Jahreis, Gerhard

    2011-01-01

    To determine trans fatty acid (TFA) distribution of contemporary foods, especially regarding individual trans octadecenoic acids (trans C18:1), 339 German foods of six categories (semi-solid fats, deep-fried potato products, bakery products, confectioneries, instant products and butter) were analysed using two GC methods. Results showed a high variation of TFA content between and within the categories containing between 0 and 40.5% of FAME except in butter, which is a source of natural TFA. The mean TFA values were below 2.0% of FAME, however, bakery products contained 4.5% and butter fat 3.2%, respectively. In addition, the distribution of individual trans C18:1 differed. In samples containing ruminant fat (butter and various confectioneries), vaccenic acid (t11-C18:1, t11) predominated, while in foods containing industrially hydrogenated fats, elaidic acid (trans-9, t9-) and t10-C18:1 were the major trans isomers.. This was reflected by a low t9/t11 index of 0.3 and 0.5 in butter and ruminant fat containing confectioneries, respectively, whilst the highest index was observed in shortenings and deep-fried potato products at 5.2 and 6.8, respectively. In conclusion, the TFA content of foods available on the German market is generally declining, but substantial variations are present. The t9/t11 index could be used as an indicator to determine ruminant fat. Practical applications: A number of studies provide evidence that a high TFA intake, particularly of industrial origin, adversely affects human health. The TFA content of foods could be reduced due to the introduction of several mandatory regulations and modifications regarding the hydrogenation process of oils. The most abundant dietary TFA are the isomers of trans C18:1. Unfortunately, the differentiation of these isomers is not yet very common, though the trans C18:1 profile differs depending on its origin (bacterial hydrogenation in the rumen or industrial hydrogenation). To date, data for TFA content

  19. Deregulated expression of EVI1 defines a poor prognostic subset of MLL-rearranged acute myeloid leukemias: a study of the German-Austrian Acute Myeloid Leukemia Study Group and the Dutch-Belgian-Swiss HOVON/SAKK Cooperative Group.

    Science.gov (United States)

    Gröschel, Stefan; Schlenk, Richard F; Engelmann, Jan; Rockova, Veronika; Teleanu, Veronica; Kühn, Michael W M; Eiwen, Karina; Erpelinck, Claudia; Havermans, Marije; Lübbert, Michael; Germing, Ulrich; Schmidt-Wolf, Ingo G H; Beverloo, H Berna; Schuurhuis, Gerrit J; Ossenkoppele, Gert J; Schlegelberger, Brigitte; Verdonck, Leo F; Vellenga, Edo; Verhoef, Gregor; Vandenberghe, Peter; Pabst, Thomas; Bargetzi, Mario; Krauter, Jürgen; Ganser, Arnold; Valk, Peter J M; Löwenberg, Bob; Döhner, Konstanze; Döhner, Hartmut; Delwel, Ruud

    2013-01-01

    To evaluate the prognostic value of ecotropic viral integration 1 gene (EVI1) overexpression in acute myeloid leukemia (AML) with MLL gene rearrangements. We identified 286 patients with AML with t(11q23) enrolled onto German-Austrian Acute Myeloid Leukemia Study Group and Dutch-Belgian-Swiss Hemato-Oncology Cooperative Group prospective treatment trials. Material was available from 177 AML patients for EVI1 expression analysis. We divided 286 MLL-rearranged AMLs into three subgroups: t(9;11)(p22;q23) (44.8%), t(6;11)(q27;q23) (14.7%), and t(v;11q23) (40.5%). EVI1 overexpression (EVI1(+)) was found in 45.8% of all patients with t(11q23), with t(6;11) showing the highest frequency (83.9%), followed by t(9;11) at 40.0%, and t(v;11q23) at 34.8%. Concurrent gene mutations were rare or absent in all three subgroups. Within all t(11q23) AMLs, EVI1(+) was the sole prognostic factor, predicting for inferior overall survival (OS; hazard ratio [HR], 2.06; P = .003), relapse-free survival (HR, 2.28; P = .002), and event-free survival (HR, 1.79; P = .009). EVI1(+) AMLs with t(11q23) in first complete remission (CR) had a significantly better outcome after allogeneic transplantation compared with other consolidation therapies (5-year OS, 54.7% v 0%; Mantel-Byar, P = .0006). EVI1(-) t(9;11) AMLs had lower WBC counts, more commonly FAB M5 morphology, and frequently had additional trisomy 8 (39.6%; P < .001). Among t(9;11) AMLs, EVI1(+) again was the sole independent adverse prognostic factor for survival. Deregulated EVI1 expression defines poor prognostic subsets among AML with t(11q23) and AML with t(9;11)(p22;q23). Patients with EVI1(+) MLL-rearranged AML seem to benefit from allogeneic transplantation in first CR.

  20. Variações na apresentação fenotípica da escoliose idiopática do adolescente Discordancia fenotípica en gemelos monocigóticos Variations in the phenotypic presentation of adolescent idiopathic scoliosis

    Directory of Open Access Journals (Sweden)

    David Del Curto

    2010-03-01

    Full Text Available OBJETIVO: discutir quais elementos, de acordo com a literatura, são responsáveis pela discordância fenotípica em gêmeos monozigóticos. MÉTODOS: foram levantados os dados ambulatoriais de um par de gêmeas monozigóticas, que incluíram: idade no momento do diagnóstico, tipo de curva, ângulo de Cobb da deformidade na consulta inicial, início do tratamento e último acompanhamento, ápice da curva e ângulo de Cobb aferido nas imagens radiográficas em perfil. RESULTADOS: criança I: curva principal lombar à esquerda, com ângulo de Cobb entre T11-L4 de 17°, e curva torácica direita entre T5-T11 de 14°. Os ápices encontravam-se no disco L1-L2 e na vértebra T8, respectivamente. Um ano depois, se detectou progressão significativa da deformidade, com a curva lombar evoluindo para 24° (T11-L4 e a curva torácica para 23° (T5-T11. Criança II: curva toracolombar de pequena magnitude à direita, com ângulo de Cobb entre T9 e L3 de 18°. O ápice situava-se na vértebra de T12. Um ano depois, observou-se aumento da curva, com o ângulo de Cobb progredindo para 40°. CONCLUSÃO: não obstante a evidência da origem genética para o desenvolvimento da escoliose, admite-se a influência de outros fatores para sua manifestação e progressão. Na literatura, encontram-se algumas explicações para o desenvolvimento da doença, referentes à deficiência de tecidos estruturais encontrada em síndromes e condições específicas, crescimento assimétrico dos membros e tronco, alterações da configuração sagital da coluna vertebral e fatores ligados à natureza, como alimentação.OBJETIVO: discutir los elementos que, de acuerdo a la literatura, son responsables por la discordancia fenotípica en gemelos monocigóticos. MÉTODOS: fueron recogidos los datos de un par de pacientes gemelas monocigóticas, que incluyeron la edad al diagnóstico, el tipo de curva, el ángulo de Cobb de la deformidad en la presentación, al inició del

  1. Rumen Biohydrogenation and Microbial Community Changes Upon Early Life Supplementation of 22:6n-3 Enriched Microalgae to Goats

    Directory of Open Access Journals (Sweden)

    Lore Dewanckele

    2018-03-01

    Full Text Available Dietary supplementation of docosahexaenoic acid (DHA-enriched products inhibits the final step of biohydrogenation in the adult rumen, resulting in the accumulation of 18:1 isomers, particularly of trans(t-11 18:1. Occasionally, a shift toward the formation of t10 intermediates at the expense of t11 intermediates can be triggered. However, whether similar impact would occur when supplementing DHA-enriched products during pregnancy or early life remains unknown. Therefore, the current in vivo study aimed to investigate the effect of a nutritional intervention with DHA in the early life of goat kids on rumen biohydrogenation and microbial community. Delivery of DHA was achieved by supplementing DHA-enriched microalgae (DHA Gold either to the maternal diet during pregnancy (prenatal or to the diet of the young offspring (postnatal. At the age of 12 weeks, rumen fluid was sampled for analysis of long-chain fatty acids and microbial community based on bacterial 16S rRNA amplicon sequencing. Postnatal supplementation with DHA-enriched microalgae inhibited the final biohydrogenation step, as observed in adult animals. This resulted particularly in increased ruminal proportions of t11 18:1 rather than a shift to t10 intermediates, suggesting that both young and adult goats might be less prone to dietary induced shifts toward the formation of t10 intermediates, in comparison with cows. Although Butyrivibrio species have been identified as the most important biohydrogenating bacteria, this genus was more abundant when complete biohydrogenation, i.e. 18:0 formation, was inhibited. Blautia abundance was positively correlated with 18:0 accumulation, whereas Lactobacillus spp. Dialister spp. and Bifidobacterium spp. were more abundant in situations with greater t10 accumulation. Extensive comparisons made between current results and literature data indicate that current associations between biohydrogenation intermediates and rumen bacteria in young goats

  2. Rumen Biohydrogenation and Microbial Community Changes Upon Early Life Supplementation of 22:6n-3 Enriched Microalgae to Goats.

    Science.gov (United States)

    Dewanckele, Lore; Vlaeminck, Bruno; Hernandez-Sanabria, Emma; Ruiz-González, Alexis; Debruyne, Sieglinde; Jeyanathan, Jeyamalar; Fievez, Veerle

    2018-01-01

    Dietary supplementation of docosahexaenoic acid (DHA)-enriched products inhibits the final step of biohydrogenation in the adult rumen, resulting in the accumulation of 18:1 isomers, particularly of trans ( t )-11 18:1. Occasionally, a shift toward the formation of t 10 intermediates at the expense of t 11 intermediates can be triggered. However, whether similar impact would occur when supplementing DHA-enriched products during pregnancy or early life remains unknown. Therefore, the current in vivo study aimed to investigate the effect of a nutritional intervention with DHA in the early life of goat kids on rumen biohydrogenation and microbial community. Delivery of DHA was achieved by supplementing DHA-enriched microalgae (DHA Gold) either to the maternal diet during pregnancy (prenatal) or to the diet of the young offspring (postnatal). At the age of 12 weeks, rumen fluid was sampled for analysis of long-chain fatty acids and microbial community based on bacterial 16S rRNA amplicon sequencing. Postnatal supplementation with DHA-enriched microalgae inhibited the final biohydrogenation step, as observed in adult animals. This resulted particularly in increased ruminal proportions of t 11 18:1 rather than a shift to t 10 intermediates, suggesting that both young and adult goats might be less prone to dietary induced shifts toward the formation of t 10 intermediates, in comparison with cows. Although Butyrivibrio species have been identified as the most important biohydrogenating bacteria, this genus was more abundant when complete biohydrogenation, i.e. 18:0 formation, was inhibited. Blautia abundance was positively correlated with 18:0 accumulation, whereas Lactobacillus spp. Dialister spp. and Bifidobacterium spp. were more abundant in situations with greater t 10 accumulation. Extensive comparisons made between current results and literature data indicate that current associations between biohydrogenation intermediates and rumen bacteria in young goats align with

  3. Identification of a B lymphoid disorder defined by specific morphologic features, a del(11)(q13) and a same breakpoint far from CCND1

    Energy Technology Data Exchange (ETDEWEB)

    Morel, D.; Callet, E.; Reynaud, S. [Laboratoire d`Hematologie, Pierre-Benite (France)] [and others

    1994-09-01

    Chromosome rearrangements in 11q13 have been shown to occur in a variety of diffuse small B-cell lymphomas/leukemias, including, beside mantle cell lymphomas (MCL), some cases of CLL/SLL, PLL, and SLVL. If t(11;14)(q13;q32) may be considered as a hallmark of MCL, less is known about deletions involving 11q13. A series of 13 patients with a diffuse small B-lymphoma/leukemia was examined for morphology (cytology and histology), immunology, cytogenetics and FISH for some of them. According to karyotype findings, 2 groups were identified: Group 1: 9 patients (6M,3F), median age 60 yrs. without 11q anomalies. Apart from trisomy 12 (3 cases), diverse anomalies were identified including chromosomes 1, 2, 7, 8, 12, 17. Cases were classified as CLL (2), SLL/SLP (5), blast-rich immunocytomas (2). Group 2: 4 patients, all males, median age 52 yrs. with breakpoints in 11q13; there were 3 deletions, and a t(11;14) was present in another case. 2 patients presented with refractory disease followed for 23 and 9 months, respectively, without any consistent morphologic change, the chromosomal anomaly being present at diagnosis in 1.3 cases. Cytologically, a nucleolated cell component was the constant and striking feature and FISH study by cos 14, pHS 11, cos 17, cos 105 revealed the same breakpoint located far from CCND1. The fourth case, bearing the t(11;14), was diagnosed as CLL/PLL in cytology, but was histologically consistent with MCL; the breakpoint was located by FISH into the BCL1 locus. Even if this study needs further confirmation, it points at the 11q13 deletion as a genetic event leading to a more aggressive disease, associated with distinct cytologic features differing from MCL and a molecular event probably not involving BCL1/CCND1.

  4. Intake of butter naturally enriched with cis9,trans11 conjugated linoleic acid reduces systemic inflammatory mediators in healthy young adults.

    Science.gov (United States)

    Penedo, Letícia A; Nunes, Juliana C; Gama, Marco Antônio S; Leite, Paulo Emilio C; Quirico-Santos, Thereza F; Torres, Alexandre G

    2013-12-01

    A conjugated linoleic acid (CLA) depletion-repletion study was carried out to investigate the effects of dietary c9,t11 CLA on C-reactive protein, transcription factor NFκB, metalloproteinases 2 and 9, inflammatory mediators (adiponectin, TNFα, IL-2, IL-4, IL-8, IL-10), body composition, and erythrocyte membrane composition in healthy normal-weight human adults. CLA depletion was achieved through an 8-week period of restricted dairy fat intake (depletion phase; CLA intake was 5.2±5.8 mg/day), followed by an 8-week period in which individuals consumed 20 g/day of butter naturally enriched with c9,t11 CLA (repletion phase; CLA intake of 1020±167 mg/day). The participants were 29 healthy adult volunteers (19 women and 10 men, aged 22 to 36 years), with body mass index between 18.0 and 29.9 kg m(-2). Blood samples were collected at baseline and at the end of both depletion and repletion phases. The content of CLA in erythrocytes decreased during CLA-depletion and increased during CLA-repletion. Intake of CLA-enriched butter increased the serum levels of anti-inflammatory IL-10 but reduced transcription factor NFκB in blood and serum levels of TNFα, IL-2, IL-8 and inactive metalloproteinase-9. Moreover, reduced activity of metalloproteinases 2 and 9 in serum was observed during the CLA-repletion period. In contrast, intake of CLA-enriched butter had no effects on body composition (DXA analysis) as well as on serum levels of adiponectin, C-reactive protein, and IL-4. Taken together, our results indicate that the intake of a c9,t11 CLA-enriched butter by normal-weight subjects induces beneficial changes in immune modulators associated with sub-clinical inflammation in overweight individuals. © 2013.

  5. Eμ/miR-125b transgenic mice develop lethal B-cell malignancies.

    Science.gov (United States)

    Enomoto, Y; Kitaura, J; Hatakeyama, K; Watanuki, J; Akasaka, T; Kato, N; Shimanuki, M; Nishimura, K; Takahashi, M; Taniwaki, M; Haferlach, C; Siebert, R; Dyer, M J S; Asou, N; Aburatani, H; Nakakuma, H; Kitamura, T; Sonoki, T

    2011-12-01

    MicroRNA-125b-1 (miR-125b-1) is a target of a chromosomal translocation t(11;14)(q24;q32) recurrently found in human B-cell precursor acute lymphoblastic leukemia (BCP-ALL). This translocation results in overexpression of miR-125b controlled by immunoglobulin heavy chain gene (IGH) regulatory elements. In addition, we found that six out of twenty-one BCP-ALL patients without t(11;14)(q24;q32) showed overexpression of miR-125b. Interestingly, four out of nine patients with BCR/ABL-positive BCP-ALL and one patient with B-cell lymphoid crisis that had progressed from chronic myelogenous leukemia overexpressed miR-125b. To examine the role of the deregulated expression of miR-125b in the development of B-cell tumor in vivo, we generated transgenic mice mimicking the t(11;14)(q24;q32) (Eμ/miR-125b-TG mice). Eμ/miR-125b-TG mice overexpressed miR-125b driven by IGH enhancer and promoter and developed IgM-negative or IgM-positive lethal B-cell malignancies with clonal proliferation. B cells obtained from the Eμ/miR-125b-TG mice were resistant to apoptosis induced by serum starvation. We identified Trp53inp1, a pro-apoptotic gene induced by cell stress, as a novel target gene of miR-125b in hematopoietic cells in vitro and in vivo. Our results provide direct evidence that miR-125b has important roles in the tumorigenesis of precursor B cells.

  6. Archeological Investigations in Cochiti Reservoir, New Mexico. Volume 2. Excavation and Analysis 1975 Season.

    Science.gov (United States)

    1977-01-01

    White ceramic ,- assemblage. Archaeomagnetic and tree-ring dates suggest an ending date of A.D. 1250 for that site. Both types also occur in limited...t-Ilk 4’ II.m 10 u weks fMoodering 2. Date sent ro0 mm "T11-79 * I RIEV 11-041 f~ &02/29/84 U.S. O. IOP -" __________ACCE611011...the pri ry title, add volume number and include subtitle for the specific volume. 5. Report Date . Each report shall carry a date indicati at least

  7. Pythagoras and Cosines: The skin-dural sac distance and optimal angles in paramedian spinal anesthesia.

    Science.gov (United States)

    Puigdellívol-Sánchez, Anna; Reina, Miguel A; Sala-Blanch, Xavier; Pomés-Talló, Jaume; Prats-Galino, Alberto

    2016-11-01

    The classical recommendation for paramedian approaches is needle insertion 1-2 cm paramedian and an angle of 10°-15° medial-cephalad to the plane of the back, but contact with vertebrae is frequent. A mathematical approach to individualizing punctures is proposed on the basis of skin-dural sac distance (d): Optimal angle ∼ inverse cosine [d/ √(1+d^2) ] and the distance covered by the needle ∼ √(1+d^2) for 1 cm paramedian punctures. The inferred angles were compared to optimal angles leading to the central dorsal part of the dural sac from 1 to 2 cm paramedian, measured by Magnetic Resonance Imaging (MRI) in seven cases and in a short stature volunteer (1.58 m, Body Mass Index (BMI) 23.2), to study supine and fetal positions using both closed MR and ultrasound. The average (d) decreased rostrally [6.8 cm (L4-L5)-4.3 cm (T11-T12)] while the mean optimal incidence angles increased [8.3°-16.5° (L4-L5) to 12.7°-24.1° (T11-T12) at 1-2 cm paramedian, respectively] and coincided with the estimated angles with a correlation coefficient = 0.98. In the volunteer, the optimal lateromedial angles increased from 14.4° to 26.7° (L3-L4) to 17.1°-30.3° (T11-T12) for a (d) = 3.7 cm (L3-L4)-3.1 cm (T11-T12) and increased ≤3.7° and ≤5.1° at 1 and 2 cm paramedian, respectively, in fetal positions in MR. Ultrasound yielded comparable figures. The range of possible angles for dural punctures is wider at 1 cm paramedian in lower approaches in lateral decubitus [from 3.6° at T12L1 (12.2°-15.8°) to 9° at L3L4 (8.8°-18.7°)]. The classically recommended angles of 10°-15° differ from the optimal angles, particularly in small patients, suggesting the need for ultrasound guidance or for inferring angles prior to spinal anesthesia. Clin. Anat. 29:1046-1052, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  8. Fusion of ZMYND8 and RELA genes in acute erythroid leukemia

    DEFF Research Database (Denmark)

    Panagopoulos, Ioannis; Micci, Francesca; Thorsen, Jim

    2013-01-01

    Acute erythroid leukemia was diagnosed in a 4-month-old boy. Cytogenetic analysis of bone marrow (BM) cells showed a t(11;20)(p11;q11) translocation. RNA extracted from the BM was sequenced and analyzed for fusion transcripts using the software FusionMap. A ZMYND8-RELA fusion was ranked first. RT...... the translocation. The putative ZMYND8-RELA fusion protein contains the Zinc-PHD finger domain, a bromodomain, a PWWP domain, a MYND type of zinc finger of ZMYND8, and the entire RELA protein, indicating that it might act leukemogenically by influencing several cellular processes including the NF-kappa-B pathway....

  9. Capacity of Air Force Operational Units to Conduct-the-Job Training: Development of Estimation Methodology.

    Science.gov (United States)

    1980-10-01

    ni al.11h’ epi.rical lei 4tlt~t 11 j priclicl T Ill t hodo Itlultp lis t a sedin Slit allt c 11% etil i il h i f ltl allo-it etalht I tsriltl fill i...X Possessed Hours X Mec (S) Hours i NDic(U)b Hours x pMCc Hours x Percent MCMO4 x x Percent P,%If~ x I QVI9s Satisfactory and Unsatisfactory x x PLOf

  10. THE HARMONIZATION AND OPTIMIZATION OF DIAGNOSTIC METHODS FOR A BELT CONVEYOR

    Directory of Open Access Journals (Sweden)

    František HELEBRANT

    2012-04-01

    Full Text Available The final aim of the project MPO FR‐T11/537 called “The Complex Diagnostic System for the Belt Transport” is a single part custom manufacturing and sale of complex diagnostic system for belt transportation and related services. The output of the project is a prototype of a diagnostic system on a model belt conveyor with prepared and certified diagnostic services and methods including their measurements and other supportive tools. The article will introduce the present state of the solution for the given grant project, especially in the field of suggested work on the diagnostic and supportive methods and other measurements.

  11. Stress fracture of the thoracic spine in an elite rhythmic gymnast: A case report.

    Science.gov (United States)

    Jha, Subash C; Sakai, Toshinori; Hangai, Mika; Toyota, Akiko; Fukuta, Shoji; Nagamachi, Akihiro; Sairyo, Koichi

    2016-01-01

    Spondylolysis, a defect or stress fracture of the vertebral pars interarticularis, occurs most frequently in the lower lumbar spine and occasionally in the cervical spine, but is extremely rare in the thoracic spine. We report the case of a 17 year-old girl, an elite rhythmic gymnast, who reported with early-stage thoracic spondylolysis at T10 and T11 levels. Physicians should be aware that performance of unusual athletic movements, such as those by gymnasts, may lead to spondylolysis in rare locations.

  12. Presque Isle Peninsula, Erie, Pennsylvania. Volume I. Main Report. Revised.

    Science.gov (United States)

    1980-11-01

    34"taw""s .1f &0 tel ad a Prmnet PIn- .Ptanptame I Slime nala Fe arallel sell ebs I IMA0151. C..i~ mmml far ds I-* lsmeie als sil heto = ,aaq.MeI~ d1...ItoVW oA~ p1.0001. I a Osti. a a - t Ottgle i sle* 1.036 *5ee 1 ’= I o f * fb em ;ltr l ate" ogebc des~~oo t 11, b het. I Ieg mieepelo I fears "o 10.1

  13. Effects of Ruminal Infusion of Garlic Oil on Fermentation Dynamics, Fatty Acid Profile and Abundance of Bacteria Involved in Biohydrogenation in Rumen of Goats

    Directory of Open Access Journals (Sweden)

    Zhi Zhu

    2012-07-01

    Full Text Available This study aimed to investigate the effects of ruminal infusion of garlic oil (GO on fermentation dynamics, fatty acid (FA profile, and abundance of bacteria involved in biohydrogenation in the rumen. Six wethers fitted with ruminal fistula were assigned to two groups for cross-over design with a 14-d interval. Each 30-d experimental period consisted of a 27-d adaptation and a 3-d sample collection. Goats were fed a basal diet without (control or with GO ruminal infusion (0.8 g/d. Ruminal contents collected before (0 h and at 2, 4, 6, 8, and 10 h after morning feeding were used for fermentation analysis, and 0 h samples were further used for FA determination and DNA extraction. Garlic oil had no influence on dry matter intakes of concentrate and hay. During ruminal fermentation, GO had no effects on total VFA concentration and individual VFA molar proportions, whereas GO increased the concentrations of ammonia nitrogen and microbial crude protein (p<0.05. Compared with control, GO group took a longer time for total VFA concentration and propionate molar proportion to reach their respective maxima after morning feeding. The ratio of acetate to propionate in control reduced sharply after morning feeding, whereas it remained relatively stable in GO group. Fatty acid analysis showed that GO reduced saturated FA proportion (p<0.05, while increasing the proportions of C18, t11–18:1 (TVA, c9,t11-conjugated linoleic acid (c9,t11-CLA, t10,c12-CLA, and polyunsaturated FA (p<0.05. The values of TVA/(c9,t11-CLA+TVA and C18:0/(TVA+ C18:0 were reduced by GO (p<0.05. Real-time PCR showed that GO tended to reduce Butyrivibrio proteoclasticus abundance (p = 0.058, whereas GO had no effect on total abundance of the Butyrivibrio group bacteria. A low correlation was found between B. proteoclasticus abundance and C18:0/(TVA+C18:0 (p = 0.910. The changes of fermentation over time suggested a role of GO in delaying the fermentation process and maintaining a

  14. 76 FR 18245 - West Tavaputs Plateau Road Restriction Order, Utah

    Science.gov (United States)

    2011-04-01

    ... Road Salt Lake Meridian, Utah T. 11 S., R. 18 E., sec. 27, SE\\1/4\\SE\\1/4\\; sec. 33, S\\1/2\\SE\\1/4\\; sec... Road Salt Lake Meridian, Utah T. 13 S., R. 17 E., sec. 8, S\\1/2\\SW\\1/4\\; sec. 17, NW\\1/4\\NW\\1/4\\; sec...\\. Jack Ridge Road Salt Lake Meridian, Utah T. 13 S., R. 16 E., sec. 8, NE\\1/4\\; sec. 9, SE\\1/4\\NE\\1/4...

  15. Shelf life extension for the lot AAE nozzle severance LSCs

    Science.gov (United States)

    Cook, M.

    1990-01-01

    Shelf life extension tests for the remaining lot AAE linear shaped charges for redesigned solid rocket motor nozzle aft exit cone severance were completed in the small motor conditioning and firing bay, T-11. Five linear shaped charge test articles were thermally conditioned and detonated, demonstrating proper end-to-end charge propagation. Penetration depth requirements were exceeded. Results indicate that there was no degradation in performance due to aging or the linear shaped charge curving process. It is recommended that the shelf life of the lot AAE nozzle severance linear shaped charges be extended through January 1992.

  16. Correlation of chromosome patterns in human leukemic cells with exposure to chemicals and/or radiation. Comprehensive progress report, July 1991--June 1992

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.

    1992-06-01

    This project seeks to defining the chromosome segments associated with radiation induced leukemogenesis (treatment-related acute myeloid leukemia, or t-AML). Towards these goals genetic analysis of human chromosomes 5 and 7 continues to investigate correlation of treatment with balanced and unbalanced chromosomal translocations. Progress is being made in cloning the breakpoints in balanced translocations in t-AML, that is to clone the t(9;11) and t(11;19) breakpoints, to clone the t(3;21)(q26;q22) breakpoints and to determine the relationship of these translocations to prior exposure to topoisomerase II inhibitors. 11 figs. 3 figs.

  17. Correlation of chromosome patterns in human leukemic cells with exposure to chemicals and/or radiation

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J.D.

    1992-06-01

    This project seeks to defining the chromosome segments associated with radiation induced leukemogenesis (treatment-related acute myeloid leukemia, or t-AML). Towards these goals genetic analysis of human chromosomes 5 and 7 continues to investigate correlation of treatment with balanced and unbalanced chromosomal translocations. Progress is being made in cloning the breakpoints in balanced translocations in t-AML, that is to clone the t(9;11) and t(11;19) breakpoints, to clone the t(3;21)(q26;q22) breakpoints and to determine the relationship of these translocations to prior exposure to topoisomerase II inhibitors. 11 figs. 3 figs.

  18. MRE11-deficiency associated with improved long-term disease free survival and overall survival in a subset of stage III colon cancer patients in randomized CALGB 89803 trial.

    Directory of Open Access Journals (Sweden)

    Thomas Pavelitz

    Full Text Available Colon cancers deficient in mismatch repair (MMR may exhibit diminished expression of the DNA repair gene, MRE11, as a consequence of contraction of a T11 mononucleotide tract. This study investigated MRE11 status and its association with prognosis, survival and drug response in patients with stage III colon cancer.Cancer and Leukemia Group B 89803 (Alliance randomly assigned 1,264 patients with stage III colon cancer to postoperative weekly adjuvant bolus 5-fluorouracil/leucovorin (FU/LV or irinotecan+FU/LV (IFL, with 8 year follow-up. Tumors from these patients were analyzed to determine stability of a T11 tract in the MRE11 gene. The primary endpoint was overall survival (OS, and a secondary endpoint was disease-free survival (DFS. Non-proportional hazards were addressed using time-dependent covariates in Cox analyses.Of 625 tumor cases examined, 70 (11.2% exhibited contraction at the T11 tract in one or both MRE11 alleles and were thus predicted to be deficient in MRE11 (dMRE11. In pooled treatment analyses, dMRE11 patients showed initially reduced DFS and OS but improved long-term DFS and OS compared with patients with an intact MRE11 T11 tract. In the subgroup of dMRE11 patients treated with IFL, an unexplained early increase in mortality but better long-term DFS than IFL-treated pMRE11 patients was observed.Analysis of this relatively small number of patients and events showed that the dMRE11 marker predicts better prognosis independent of treatment in the long-term. In subgroup analyses, dMRE11 patients treated with irinotecan exhibited unexplained short-term mortality. MRE11 status is readily assayed and may therefore prove to be a useful prognostic marker, provided that the results reported here for a relatively small number of patients can be generalized in independent analyses of larger numbers of samples.ClinicalTrials.gov NCT00003835.

  19. Three level spinal dysraphism: multiple composite Type 1 and Type 2 split cord malformatıon

    Directory of Open Access Journals (Sweden)

    Alatas I.

    2014-12-01

    Full Text Available It has reported an uncommon case a 3 year-old girl a composite split cord malformation (SCM with two different levels of SCM type1 and one level SCM type2, tight filum and sacral dermal sinus. The patient was admitted with a hypertrichosis and hyperpigmented patch. MRI of whole spine and brain was done. SCM type1 at T 7 and L2 levels and SCM typ2 at T11 level were removed then tight filum was cut and dermal sinus was excised at different sites during the same surge

  20. Three level spinal dysraphism: multiple composite Type 1 and Type 2 split cord malformatıon

    OpenAIRE

    Alatas I.; Gundag M.; Canaz H.; Emel E.

    2014-01-01

    It has reported an uncommon case a 3 year-old girl a composite split cord malformation (SCM) with two different levels of SCM type1 and one level SCM type2, tight filum and sacral dermal sinus. The patient was admitted with a hypertrichosis and hyperpigmented patch. MRI of whole spine and brain was done. SCM type1 at T 7 and L2 levels and SCM typ2 at T11 level were removed then tight filum was cut and dermal sinus was excised at different sites during the same surge

  1. Development of Novel Decontamination Techniques for Chemical Agents (GB, VX, HD) Contaminated Facilities. Phase 1. Identification and Evaluation of Novel Decontamination Concepts. Volume 2

    Science.gov (United States)

    1983-02-01

    Phosphoric, citric or other acids may be used as coupling agent/solvents in the cleaning tank. Decontamination solutions may also be used. Ultrasonics may be... Carboxymethyl cellulose 0.2%; and Bactericide 0.1%. Davis, 1950 reported that 100 C steam (no additives) was effective in decontaminating samples exposed to...versatile and promising surfactant being: H20 67.5%; Veegum T, 11.2%; Tergitol 15-5-9, 1%; BuOC 2H4OH, 15%; Carboxymethyl cellulose 0.2%; and Bactericide 0.1

  2. On-off Intermittency in Locally Coupled Maps

    Science.gov (United States)

    2010-11-02

    other nearby systems. For example, convection cells located in deep clouds can interact with neighboring cells , or the population of insects or fish at...consider the case of K locally connected maps all of which have the same parameter values, Nkt +1 = (1− )f( Nkt ; rkt ) + 2 [f(Nk−1t ; r k−1 t ) + f...N k+1 t ; r k+1 t )], (11) where k = 1, 2, ...,K, and f( Nkt ; r k t ) = N k t exp[r k t (1− Nkt )] (12) 267 where rkt = r0+σW k t , andW k t is

  3. Analysis of an Assemblage of Discs Employing Interactive Graphics.

    Science.gov (United States)

    1980-12-01

    becu’It UI the iLc rementa I norma I and sheiar d isp I acement s is given by FC F C + ’,,tck n n n n s ss where cU F n the normal spring force K Fi= the...rssvabfore2 Cearh c all, t o MOT 1IUN ( i c c. , vrv 0 c l :sr ,,.); t 11 - Apa ; it 1it it’ln as shown in Figure "I. ex ists. 1o deL’ 111 erin 11 i ih eLe-1 i

  4. A study of final states containing high-p/sub T/ pi /sup 0/'s at the CERN ISR

    CERN Document Server

    Angelis, A L S; Camilleri, L L; Chapin, T J; Cool, R L; del Papa, C; Di Lella, L; Dimcovski, Zlatomir; Hollebeek, R J; Lederman, Leon Max; Levinthal, D A; Linnemann, J T; Lyons, L; Phinney, N; Pope, B G; Pordes, S H; Rothenberg, A F; Segar, A M; Singh-Sidhu, J; Smith, A M; Tannenbaum, M J; Vidal, R A; Wallace-Hadrill, J S; White, T O; Yelton, J M

    1979-01-01

    A large solid-angle apparatus consisting of a superconducting solenoid magnet, cylindrical drift chambers, and two arrays of lead-glass counters is used to examine particles associated with a high transverse momentum trigger in pp interactions at the CERN ISR. The trigger is given by energy deposition in the lead-glass arrays centred at 90 degrees . Results on particle correlations and on jets are presented for interactions at square root s=62.4 GeV and in the trigger transverse momentum range 3

    T/<11 GeV/c. (8 refs).

  5. Conjugated Linoleic Acids Reduce Body Fat in Healthy Postmenopausal Women

    DEFF Research Database (Denmark)

    Raff, M.; Tholstrup, T.; Toubro, S.

    2009-01-01

    -ray absorptiometry, changes in serum insulin and glucose concentrations, and adipose tissue (AT) gene expression in humans. In a double-blind, parallel, 16-wk intervention, we randomized 81 healthy postmenopausal women to 1) 5.5 g/d of 40/40% of cis9, trans11-CLA (c9, t11-CLA) and trans10, cis12-CLA (t10, c12-CLA...... in the control group (P women and greater serum insulin concentrations in the highest waist circumference tertile. Future research is needed to confirm the insulin desensitizing...

  6. Use of a Tilting Orthopedic Fracture Table to Facilitate Proper Patient Positioning During Intrathecal Neurolysis With Hyperbaric Phenol: A Case Report.

    Science.gov (United States)

    Loo, Nathaniel H; Matchett, Gerald

    2017-09-15

    We describe the case of a 41-year-old woman with metastatic cervical cancer and a large mass eroding into the pelvis and left lumbosacral plexus. The patient had intractable left lower extremity pain refractory to standard therapies, and she elected to undergo intrathecal neurolysis. A diagnostic intrathecal block was performed at the T11-12 interspace followed by intrathecal neurolysis with 6% phenol in glycerin on a subsequent date. During both procedures, we used a tilting radiolucent orthopedic fracture table to maintain strict left lateral-supine positioning. A tilting orthopedic fracture table may be a valuable adjunct to ensure positional stability during intrathecal neurolysis.

  7. A fast triple-GEM detector for high-rate charged-particle triggering

    Energy Technology Data Exchange (ETDEWEB)

    Bencivenni, G.; Bonivento, W.; Bosio, C.; Cardini, A. E-mail: alessandro.cardini@cern.ch; Felici, G.; Lai, A.; Murtas, F.; Pinci, D.; Saitta, B.; Satta, L.; Valente, P

    2002-02-01

    Triple-GEM detectors with pad readout has been tested at the CERN PS T11 Hadron Beam Facility. A time distribution RMS of 6 ns has been obtained with an Ar/CO{sub 2}/CF{sub 4} (60/20/20) gas mixture, achieving a substantial improvement with respect to Ar/CO{sub 2} (70/30), where an RMS of 10 ns was obtained. This resulted in an efficiency of about 96% in a 25 ns time-window (and a total efficiency of 99.7%), suggesting that these detectors could be interesting devices for triggering at the typical LHC interaction rate.

  8. Lhermitte Sign as a Presenting Symptom of Thoracic Spinal Pathology: A Case Study

    Directory of Open Access Journals (Sweden)

    Adam Hills

    2015-01-01

    Full Text Available A 54-year-old male with ankylosing spondylitis presented with complaints of progressively worsening bilateral leg weakness and difficulty ambulating of 2-week duration. He also felt a sharp, electric, shock-like sensation radiating from his lower back into his legs upon flexing the trunk. There was no history of trauma or other inciting events within the 2 weeks prior to presentation. Thoracic MRI at this visit showed a three-column fracture at T11-T12. He underwent spinal fusion surgery and within 2 days after surgery the radiating electrical sensation with spinal flexion had completely resolved.

  9. Early-Life Stress Affects Stress-Related Prefrontal Dopamine Activity in Healthy Adults, but Not in Individuals with Psychotic Disorder.

    Directory of Open Access Journals (Sweden)

    Zuzana Kasanova

    Full Text Available Early life stress may have a lasting impact on the developmental programming of the dopamine (DA system implicated in psychosis. Early adversity could promote resilience by calibrating the prefrontal stress-regulatory dopaminergic neurotransmission to improve the individual's fit with the predicted stressful environment. Aberrant reactivity to such match between proximal and distal environments may, however, enhance psychosis disease risk. We explored the combined effects of childhood adversity and adult stress by exposing 12 unmedicated individuals with a diagnosis of non-affective psychotic disorder (NAPD and 12 healthy controls (HC to psychosocial stress during an [18F]fallypride positron emission tomography. Childhood trauma divided into early (ages 0-11 years and late (12-18 years was assessed retrospectively using a questionnaire. A significant group x childhood trauma interaction on the spatial extent of stress-related [18F]fallypride displacement was observed in the mPFC for early (b = -8.45, t(1,23 = -3.35, p = .004 and late childhood trauma (b = -7.86, t(1,23 = -2.48, p = .023. In healthy individuals, the spatial extent of mPFC DA activity under acute psychosocial stress was positively associated with the severity of early (b = 7.23, t(11 = 3.06, p = .016 as well as late childhood trauma (b = -7.86, t(1,23 = -2.48, p = .023. Additionally, a trend-level main effect of early childhood trauma on subjective stress response emerged within this group (b = -.7, t(11 = -2, p = .07, where higher early trauma correlated with lower subjective stress response to the task. In the NAPD group, childhood trauma was not associated with the spatial extent of the tracer displacement in mPFC (b = -1.22, t(11 = -0.67, nor was there a main effect of trauma on the subjective perception of stress within this group (b = .004, t(11 = .01, p = .99. These findings reveal a potential mechanism of neuroadaptation of prefrontal DA transmission to early life stress

  10. Fitness of Streptococcus pneumoniae fluoroquinolone-resistant strains with topoisomerase IV recombinant genes.

    Science.gov (United States)

    Balsalobre, Luz; de la Campa, Adela G

    2008-03-01

    The low prevalence of ciprofloxacin-resistant (Cp r) Streptococcus pneumoniae isolates carrying recombinant topoisomerase IV genes could be attributed to a fitness cost imposed by the horizontal transfer, which often implies the acquisition of larger-than-normal parE-parC intergenic regions. A study of the transcription of these genes and of the fitness cost for 24 isogenic Cp r strains was performed. Six first-level transformants were obtained either with PCR products containing the parC quinolone resistance-determining regions (QRDRs) of S. pneumoniae Cp r mutants with point mutations or with a PCR product that includes parE-QRDR-ant-parC-QRDR from a Cp r Streptococcus mitis isolate. The latter yielded two strains, T6 and T11, carrying parC-QRDR and parE-QRDR-ant-parC-QRDR, respectively. These first-level transformants were used as recipients in further transformations with the gyrA-QRDR PCR products to obtain 18 second-level transformants. In addition, strain Tr7 (which contains the GyrA E85K change) was used. Reverse transcription-PCR experiments showed that parE and parC were cotranscribed in R6, T6, and T11; and a single promoter located upstream of parE was identified in R6 by primer extension. The fitness of the transformants was estimated by pairwise competition with R6 in both one-cycle and two-cycle experiments. In the one-cycle experiments, most strains carrying the GyrA E85K change showed a fitness cost; the exception was recombinant T14. In the two-cycle experiments, a fitness cost was observed in most first-level transformants carrying the ParC changes S79F, S79Y, and D83Y and the GyrA E85K change; the exceptions were recombinants T6 and T11. The results suggest that there is no impediment due to a fitness cost for the spread of recombinant Cp r S. pneumoniae isolates, since some recombinants (T6, T11, and T14) exhibited an ability to compensate for the cost.

  11. Propagation Influences on Digital Transmission Systems: Problems and Solutions Held at Athens, Greece on 4-8 June 1984.

    Science.gov (United States)

    1984-06-08

    t1hi C CI\\ll 11111 Cdl L’II () \\\\ lbh block cotics "ou call di) \\% 11 molit ~\\ illlI COdic \\. C\\Cpt lll ’ 0iII )I o that CO I\\01 ~tilM Co ]C~ II II...coLICS de Kasanli IosCkiclIl IC, p)ills p)Clit / virI’n~ ICs C(O k I 011111i", CC t (11,1C It:, IIICIlIclJirs. I .C" COdIC , LIC [-it C I ll jllsCs

  12. 40 CFR 81.303 - Arizona.

    Science.gov (United States)

    2010-07-01

    ... classified Better than national standards Ajo T12S, R6W 1 X Douglas: T24S, R27E 1 X T24S, R28E 1 X Hayden... meet secondary standards Cannot be classified Better than national standards Ajo: (T11-13S, R5W-R6W) X..., T12S, R10E, T12S, R11E, T12S, R12E Ajo planning area 11/15/90 Nonattainment 11/15/90 Moderate. Township...

  13. The risks of aorta impingement from pedicle screw may increase due to aorta movement during posterior instrumentation in Lenke 5C curve: a computed tomography study.

    Science.gov (United States)

    Chen, Ling; Xu, Leilei; Qiu, Yong; Qiao, Jun; Wang, Fei; Liu, Zhen; Shi, Benglong; Qian, Bang-ping; Zhu, Zezhang

    2015-07-01

    To investigate the aorta movement following correction surgery for patients with thoracolumbar/lumbar scoliosis and to determine the subsequent risk of the aorta impingement for pedicle screw (PS) misplacement. Thirty-six AIS patients with a main thoracolumbar or lumbar curve were included in this study. According to the direction of the main curve, the patients were divided into Group R and Group L, with Group R comprising 16 patients with a right-sided curve and Group L comprising 20 patients with a left-sided curve. All patients underwent CT scans of the lower thoracic and lumbar spine before and after surgery. To identify the relative positions of the aorta to vertebral body, several parameters were measured from the CT images of the middle transverse planes of vertebrae from T11 to L4, including aorta-vertebra angle (α), vertebral rotation angle (β), left safety distance (LSD) and right safety distance (RSD). The risk of the aorta impingement from T11 to L4 was calculated. An intragroup comparison regarding the position of the aorta relative to the vertebral body before and after correction surgery was performed accordingly. After surgery, the aorta moved toward the vertebral body among all levels in both groups. Compared with that in Group L, the aorta in Group R was significantly closer to the entry point at all levels, especially at T11. Before surgery, the aorta in Group R was at a high risk of impingement from left PS placement regardless of the diameters of the simulated screws. While in Group L, the risk of aorta impingement was mainly caused by the right placement of 45 mm PS. After surgery, both groups had an increased risk of aorta impingement from PS insertion, especially at T11. The risk of aorta impingement from PS placement was significantly higher in Group R than in Group L. The risk of aorta impingement increased as the aorta shifted leftward after correction surgery, especially in right-sided Lenke 5C curve. Thus, preoperative risk

  14. Interactions of Neuromodulators with Cells of the Immune System

    Science.gov (United States)

    1991-06-20

    treatments. lizan blood platelet,: were isolatod y low trifuged at 0 S for 15 *in. and the aupernatan u..ained was ed centrifugation and surface...deprimers copetar to 51 and 3’ ends Stain’tng for altered cation bindig, g the copper sulfate/potassiumI ofI-e laeta C squne.Th PEres onpout0ee f~ynd tecne...this ed nt antigen Impet hemocyanin (KLH). H"nl does not ptide in T 11 development and unction we have effsot fhs -total -n mber of spleen cells or

  15. Particle identification in a LKr ionization chamber by multiple induced current measurements using the shape analysis of the signal

    International Nuclear Information System (INIS)

    Cantoni, P.; Frabetti, P.L.; Stagni, L.; Diaferia, R.; Lanni, F.; Maggi, B.; Palombo, F.; Sala, A.; Manfredi, P.F.; Re, V.; Speziali, V.

    1995-01-01

    Charged particle (π/K) separation in the momentum range 0.5-0.7 GeV/c using a new method of shape analysis of the signal from a liquid krypton ionization chamber has been studied experimentally. The detector has been exposed to the T11 test beam at CERN PS. The shape of the preamplifier output signal has been recorded by a waveform digitizer and differentiated to obtain multiple measurements of induced current inside a 2 cm gap. Results on particle separation are presented. (orig.)

  16. Correlation of chromosome patterns in human leukemic cells with exposure to chemicals and/or radiation

    International Nuclear Information System (INIS)

    Rowley, J.D.

    1992-06-01

    This project seeks to defining the chromosome segments associated with radiation induced leukemogenesis (treatment-related acute myeloid leukemia, or t-AML). Towards these goals genetic analysis of human chromosomes 5 and 7 continues to investigate correlation of treatment with balanced and unbalanced chromosomal translocations. Progress is being made in cloning the breakpoints in balanced translocations in t-AML, that is to clone the t(9;11) and t(11;19) breakpoints, to clone the t(3;21)(q26;q22) breakpoints and to determine the relationship of these translocations to prior exposure to topoisomerase II inhibitors. 11 figs. 3 figs

  17. Ultrasonic measurement of through-thickness stress gradients in textured sheet metals

    International Nuclear Information System (INIS)

    Man Chising; Li Jianbo; Fan Xingyan; Lu Weiyang

    2000-01-01

    The objective of this investigation is to explore the possibility of using the dispersion of high-frequency Rayleigh waves for the evaluation of through-thickness stress gradients at the surface of metal sheets. We consider an orthorhombic sheet of cubic metal with through-thickness inhomogeneities in stress and texture, and adopt a coordinate system under which the rolling (RD), transverse (TD), and normal direction (ND) of the sheet are taken as the 1-, 2-, and 3-direction, respectively. We restrict our attention to the special case where only the stress components T 11 (x 3 ) and T 22 (x 3 ) in the sheet are nonzero, and consider only Rayleigh waves of sufficiently high frequency for which the sheet can be taken as the half-space x 3 ≥0. For Rayleigh waves of two different frequencies (with wave numbers k 1 and k k 2 respectively) propagating on the same wave path along either RD or TD, we appeal to an analysis of J. Li and Man to obtain a high-frequency asymptotic formula which gives the relative change in time-of-flight Δt/t 0 as (1/k 1 -1/k 2 ) times a linear combination of the derivatives T 11 ' (0), T 22 ' (0), W 4m0 ' (0)(m=0,2,4) and W 6m0 (0)(m=0,2,4,6) at the surface are ascertained and the material constants in the acoustoelastic consitutive equation of this polycrystal are known. An experiment was performed on an AA7075-T651 aluminum alloy beam, in which Δt/t 0 was measured for various values of T 11 (0) and T 11 ' (0) produced by beam bending (with (T 22 ≡0). The relevant texture coefficients of the beam were measured by X-ray diffraction. To obtain specific predictions from the aforementioned symptotic formula, we replace the material constants of the sample by their counterparts predicted for polycrystalline (pure) aluminum by the Man-Paroni model. The predictions and Δt/t 0 are then compared with the experimental results

  18. Osteoarticular tuberculosis in an HIV-positive patient: a case report

    Directory of Open Access Journals (Sweden)

    Gabriela de Moraes Rêgo Guedes

    2014-06-01

    Full Text Available The authors report a case of a 38-year-old HIV-positive woman, with subcutaneous nodules on the thoracic region with 3 months of evolution. Clinical, laboratory, and epidemiological features were evaluated and associated with apparent damage to the T11-T12 vertebrae, identification by imaging tests, positivity in a polymerase chain reaction-based test, and reactivity to the Mantoux tuberculin skin test (PPD-RT 23. The patient was diagnosed with osteoarticular tuberculosis and received treatment for a year, and clinical cure was achieved.

  19. Beam tests of WPC-7 prototype of iwire pad chambers for the LHCb muon system

    CERN Document Server

    Bochin, B; Lazarev, V A; Saguidova, N; Spiridenkov, E M; Vorobev, A P; Vorobyov, A

    2000-01-01

    A new prototype of the Wire Pad Chamber for the LHCb Muon System, WPC-7, has been constructed at PNPI and tested in the T11 beam at CERN. This prototype proved to be more stable against the electrical discharges at high voltages thus extending the operational plateau of the chamber by 200V. This made it possible to operate with larger wire pad sizes up to 12x16cm2. This report presents the results from the beam tests of the WPC-7 prototype : time resolution and efficiency, cross-talk, noise counting rates, streamer probability measured at various high voltages and discriminator thresholds.

  20. Cisticerco macrocístico intramedular: extirpação cirúrgica

    Directory of Open Access Journals (Sweden)

    Orestes Barini

    1954-09-01

    Full Text Available O presente trabalho relata um caso de cisticerco macrocístico intramedular. provàvelmente o primeiro caso operado citado na literatura. Tratava-se de um paciente apresentando paraparesia sensitivo-motora flácida, com bloqueio verificado pela mielografia, ao nível de T10-T11. Pela intervenção cirúrgica foi retirado um tumor intramedular bem delimitado, cujo exame histopatológico mostrou tratar-se de cisticerco acéfalo, envolvido em tecido de inflamação crônica inespecífica.

  1. MRI of Enterovirus 71 myelitis with monoplegia

    Energy Technology Data Exchange (ETDEWEB)

    Shen, W.C. [Department of Radiology, and School of Medicine, China Medical College, China Medical College Hospital, Taiwan (Taiwan); Tsai, C.H. [Department of Paediatrics, and School of Medicine, China Medical College, China Medical College Hospital, Taiwan (Taiwan); Chiu, H.H. [Department of Paediatrics, China Medical College Hospital, No. 2 Yuh-Der Road, 407 Taichung, Taiwan (Taiwan); Chow, K.C. [Department of Medical Research, China Medical College Hospital, Taichung, Taiwan (Taiwan)

    2000-02-01

    We report two boys diagnosed as having herpangina and hand-foot-mouth disease complicated by monoplegia during the outbreak enterovirus infection in Taiwan in 1998. Enterovirus 71 was identified in the stool and throat swab; neither polio nor Coxsackie viruses was identified. MRI showed unilateral lesions in the anterior horns of the spinal cord at T11-12 and C2-5. Although the MRI findings and sites of these lesions were similar to those of poliovirus-associated poliomyelitis, the virological data indicated that these boys were infected with enterovirus type 71. (orig.)

  2. MRI of Enterovirus 71 myelitis with monoplegia

    International Nuclear Information System (INIS)

    Shen, W.C.; Tsai, C.H.; Chiu, H.H.; Chow, K.C.

    2000-01-01

    We report two boys diagnosed as having herpangina and hand-foot-mouth disease complicated by monoplegia during the outbreak enterovirus infection in Taiwan in 1998. Enterovirus 71 was identified in the stool and throat swab; neither polio nor Coxsackie viruses was identified. MRI showed unilateral lesions in the anterior horns of the spinal cord at T11-12 and C2-5. Although the MRI findings and sites of these lesions were similar to those of poliovirus-associated poliomyelitis, the virological data indicated that these boys were infected with enterovirus type 71. (orig.)

  3. Comparative genomic hybridization of cancer of the gastroesophageal junction: deletion of 14Q31-32.1 discriminates between esophageal (Barrett's) and gastric cardia adenocarcinomas.

    Science.gov (United States)

    van Dekken, H; Geelen, E; Dinjens, W N; Wijnhoven, B P; Tilanus, H W; Tanke, H J; Rosenberg, C

    1999-02-01

    Incidence rates have risen rapidly for esophageal and gastric cardia adenocarcinomas. These cancers, arising at and around the gastroesophageal junction (GEJ), share a poor prognosis. In contrast, there is no consensus with respect to clinical staging resulting in possible adverse effects on treatment and survival. The goal of this study was to provide more insight into the genetic changes underlying esophageal and gastric cardia adenocarcinomas. We have used comparative genomic hybridization for a genetic analysis of 28 adenocarcinomas of the GEJ. Eleven tumors were localized in the distal esophagus and related to Barrett's esophagus, and 10 tumors were situated in the gastric cardia. The remaining seven tumors were located at the junction and could not be classified as either Barrett-related, or gastric cardia. We found alterations in all 28 neoplasms. Gains and losses were distinguished in comparable numbers. Frequent loss (> or = 25% of all tumors) was detected, in decreasing order of frequency, on 4pq (54%), 14q (46%), 18q (43%), 5q (36%), 16q (36%), 9p (29%), 17p (29%), and 21q (29%). Frequent gain (> or = 25% of all tumors) was observed, in decreasing order of frequency, on 20pq (86%), 8q (79%), 7p (61%), 13q (46%), 12q (39%), 15q (39%), 1q (36%), 3q (32%), 5p (32%), 6p (32%), 19q (32%), Xpq (32%), 17q (29%), and 18p (25%). Nearly all patients were male, and loss of chromosome Y was frequently noted (64%). Recurrent high-level amplifications (> 10% of all tumors) were seen at 8q23-24.1, 15q25, 17q12-21, and 19q13.1. Minimal overlapping regions could be determined at multiple locations (candidate genes are in parentheses): minimal regions of overlap for deletions were assigned to 3p14 (FHIT, RCA1), 5q14-21 (APC, MCC), 9p21 (MTS1/CDKN2), 14q31-32.1 (TSHR), 16q23, 18q21 (DCC, P15) and 21q21. Minimal overlapping amplified sites could be seen at 5p14 (MLVI2), 6p12-21.1 (NRASL3), 7p12 (EGFR), 8q23-24.1 (MYC), 12q21.1, 15q25 (IGF1R), 17q12-21 (ERBB2/HER2-neu), 19q

  4. Creative Activities in Music – A Genome-Wide Linkage Analysis

    Science.gov (United States)

    Oikkonen, Jaana; Kuusi, Tuire; Peltonen, Petri; Raijas, Pirre; Ukkola-Vuoti, Liisa; Karma, Kai; Onkamo, Päivi; Järvelä, Irma

    2016-01-01

    Creative activities in music represent a complex cognitive function of the human brain, whose biological basis is largely unknown. In order to elucidate the biological background of creative activities in music we performed genome-wide linkage and linkage disequilibrium (LD) scans in musically experienced individuals characterised for self-reported composing, arranging and non-music related creativity. The participants consisted of 474 individuals from 79 families, and 103 sporadic individuals. We found promising evidence for linkage at 16p12.1-q12.1 for arranging (LOD 2.75, 120 cases), 4q22.1 for composing (LOD 2.15, 103 cases) and Xp11.23 for non-music related creativity (LOD 2.50, 259 cases). Surprisingly, statistically significant evidence for linkage was found for the opposite phenotype of creative activity in music (neither composing nor arranging; NCNA) at 18q21 (LOD 3.09, 149 cases), which contains cadherin genes like CDH7 and CDH19. The locus at 4q22.1 overlaps the previously identified region of musical aptitude, music perception and performance giving further support for this region as a candidate region for broad range of music-related traits. The other regions at 18q21 and 16p12.1-q12.1 are also adjacent to the previously identified loci with musical aptitude. Pathway analysis of the genes suggestively associated with composing suggested an overrepresentation of the cerebellar long-term depression pathway (LTD), which is a cellular model for synaptic plasticity. The LTD also includes cadherins and AMPA receptors, whose component GSG1L was linked to arranging. These results suggest that molecular pathways linked to memory and learning via LTD affect music-related creative behaviour. Musical creativity is a complex phenotype where a common background with musicality and intelligence has been proposed. Here, we implicate genetic regions affecting music-related creative behaviour, which also include genes with neuropsychiatric associations. We also propose

  5. Classification and regression tree and spatial analyses reveal geographic heterogeneity in genome wide linkage study of Indian visceral leishmaniasis.

    Directory of Open Access Journals (Sweden)

    Michaela Fakiola

    2010-12-01

    Full Text Available Genome wide linkage studies (GWLS have provided evidence for loci controlling visceral leishmaniasis on Chromosomes 1p22, 6q27, 22q12 in Sudan and 6q27, 9p21, 17q11-q21 in Brazil. Genome wide studies from the major focus of disease in India have not previously been reported.We undertook a GWLS in India in which a primary ∼10 cM (515 microsatellites scan was carried out in 58 multicase pedigrees (74 nuclear families; 176 affected, 353 total individuals and replication sought in 79 pedigrees (102 nuclear families; 218 affected, 473 total individuals. The primary scan provided evidence (≥2 adjacent markers allele-sharing LOD≥0.59; nominal P≤0.05 for linkage on Chromosomes 2, 5, 6, 7, 8, 10, 11, 20 and X, with peaks at 6p25.3-p24.3 and 8p23.1-p21.3 contributed to largely by 31 Hindu families and at Xq21.1-q26.1 by 27 Muslim families. Refined mapping confirmed linkage across all primary scan families at 2q12.2-q14.1 and 11q13.2-q23.3, but only 11q13.2-q23.3 replicated (combined LOD = 1.59; P = 0.0034. Linkage at 6p25.3-p24.3 and 8p23.1-p21.3, and at Xq21.1-q26.1, was confirmed by refined mapping for primary Hindu and Muslim families, respectively, but only Xq21.1-q26.1 replicated across all Muslim families (combined LOD 1.49; P = 0.0045. STRUCTURE and SMARTPCA did not identify population genetic substructure related to religious group. Classification and regression tree, and spatial interpolation, analyses confirm geographical heterogeneity for linkages at 6p25.3-p24.3, 8p23.1-p21.3 and Xq21.1-q26.1, with specific clusters of families contributing LOD scores of 2.13 (P = 0.0009, 1.75 (P = 0.002 and 1.84 (P = 0.001, respectively.GWLS has identified novel loci that show geographical heterogeneity in their influence on susceptibility to VL in India.

  6. In Vitro Pharmacodynamics of Human Simulated Exposures of Telavancin against Methicillin-Susceptible and -Resistant Staphylococcus aureus with and without Prior Vancomycin Exposure.

    Science.gov (United States)

    Thabit, Abrar K; Nicolau, David P; Kuti, Joseph L

    2016-01-01

    Telavancin is a lipoglycopeptide with potent activity against methicillin-resistant Staphylococcus aureus (MRSA) and methicillin-susceptible S. aureus (MSSA). The activity of telavancin against MRSA and MSSA after prior vancomycin exposure was studied in an in vitro pharmacodynamic model. Two clinical MRSA and two MSSA isolates, all with vancomycin MICs of 2 μg/ml, were subjected to humanized free drug exposures of vancomycin at 1 g every 12 h (q12h) for 96 h, telavancin at 750 mg q24h for 96 h, and vancomycin at 1 g q12h for 72 h followed by telavancin at 750 mg q24h for 48 h (120 h total). The microbiological responses were measured by changes from 0 h in log10 CFU/ml at the end of experiments and area under the bacterial killing and regrowth curves over 96 h (AUBC0-96). The control isolates grew to 8.8 ± 0.3 log10 CFU/ml. Initially, all regimens caused -4.5 ± 0.9 reductions in log10 CFU/ml by 48 h followed by slight regrowth over the following 48 to 72 h. After 96 h, vancomycin and telavancin achieved -3.7 ± 0.9 and -3.8 ± 0.8 log10 CFU/ml changes from baseline, respectively (P = 0.74). Sequential exposure to telavancin after vancomycin did not result in additional CFU reductions or increases, with ultimate log10 CFU/ml reductions of -4.3 ± 1.1 at 96 h and -4.2 ± 1.3 at 120 h (P > 0.05 for all comparisons at 96 h). The AUBC0-96 was significantly smaller for the regimen of telavancin for 96 h than for the regimens of vancomycin for 96 h and vancomycin followed by telavancin (P ≤ 0.04). No resistance was observed throughout the experiment. Against these MRSA and MSSA isolates with vancomycin MICs of 2 μg/ml, telavancin was comparable with vancomycin and its activity was unaffected by prior vancomycin exposure. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  7. In Vitro Pharmacodynamics of Vancomycin against Methicillin-Susceptible and -Resistant Staphylococcus aureus: Considering the Variability in Observed Tissue Exposure.

    Science.gov (United States)

    Hamada, Yukihiro; Kuti, Joseph L; Nicolau, David P

    2016-02-01

    Vancomycin is considered a first-line antibiotic for complicated skin and skin structure infections (cSSSI) because of the risk of methicillin-resistant Staphylococcus aureus (MRSA). The vancomycin exposure of tissue can vary widely in patients with cSSSI, yet most models test only the average exposure. The in vitro pharmacodynamic model was used to simulate three tissue exposure levels attained by administering vancomycin at 1 g every 12 h (q12h), based on the median (50th), 25th, and 10th percentile tissue area under the concentration-time curve (AUC) values observed during an in vivo microdialysis study of diabetic patients. Four clinical isolates (two of MRSA [vancomycin MIC, 1 and 2 μg/ml] and two of methicillin-susceptible S. aureus [MSSA] [MIC, 1 and 2 μg/ml]) were evaluated. Experiments were performed over 72 h in duplicate. Time-kill curves were constructed, and the area under the bacterial killing and regrowth curve (AUBC) during the final 24-h dosing interval (48 to 72 h) (AUBC48-72) was calculated. Reductions in the 72-h number of CFU/ml and AUBC48-72 at the different exposure levels were compared. Target tissue vancomycin exposure levels for the 50th (AUC0-12, 102.0 ± 9.1 μg · h/ml), 25th (AUC0-12, 44.3 ± 1.8 μg · h/ml), and 10th (AUC0-12, 25.3 ± 3.1 μg · h/ml) percentiles were obtained in all studies. No differences in the 72-h number of CFU or AUBC were observed between exposure levels when all of the isolates were analyzed together. However, for the two MRSA isolates, the 10th percentile exposure level achieved a lower 72-h number of CFU/ml (-1.4 ± 0.4 log10 CFU/ml, P = 0.007) and a greater AUBC48-72 (97.1 ± 20.0 log10 CFU · h/ml, P = 0.011) than the higher exposure levels. The majority of the tissue exposure levels achieved with a vancomycin dosing regimen of 1 g q12h resulted in substantial killing of MSSA and MRSA; however, the lowest exposure levels observed in a minority of the population may explain the poor vancomycin response

  8. Determination of Vancomycin Pharmacokinetics in Neonates To Develop Practical Initial Dosing Recommendations

    Science.gov (United States)

    Kim, Julianne; Iaboni, Dolores C.; Walker, Scott E.; Elligsen, Marion; Dunn, Michael S.; Allen, Vanessa G.; Simor, Andrew

    2014-01-01

    Variability in neonatal vancomycin pharmacokinetics and the lack of consensus for optimal trough concentrations in neonatal intensive care units pose challenges to dosing vancomycin in neonates. Our objective was to determine vancomycin pharmacokinetics in neonates and evaluate dosing regimens to identify whether practical initial recommendations that targeted trough concentrations most commonly used in neonatal intensive care units could be determined. Fifty neonates who received vancomycin with at least one set of steady-state levels were evaluated retrospectively. Mean pharmacokinetic values were determined using first-order pharmacokinetic equations, and Monte Carlo simulation was used to evaluate initial dosing recommendations for target trough concentrations of 15 to 20 mg/liter, 5 to 20 mg/liter, and ≤20 mg/liter. Monte Carlo simulation revealed that dosing by mg/kg of body weight was optimal where intermittent dosing of 9 to 12 mg/kg intravenously (i.v.) every 8 h (q8h) had the highest probability of attaining a target trough concentration of 15 to 20 mg/liter. However, continuous infusion with a loading dose of 10 mg/kg followed by 25 to 30 mg/kg per day infused over 24 h had the best overall probability of target attainment. Initial intermittent dosing of 9 to 15 mg/kg i.v. q12h was optimal for target trough concentrations of 5 to 20 mg/liter and ≤20 mg/liter. In conclusion, we determined that the practical initial vancomycin dose of 10 mg/kg vancomycin i.v. q12h was optimal for vancomycin trough concentrations of either 5 to 20 mg/liter or ≤20 mg/liter and that the same initial dose q8h was optimal for target trough concentrations of 15 to 20 mg/liter. However, due to large interpatient vancomycin pharmacokinetic variability in neonates, monitoring of serum concentrations is recommended when trough concentrations between 15 and 20 mg/liter or 5 and 20 mg/liter are desired. PMID:24614381

  9. Sub-megabase resolution tiling (SMRT array-based comparative genomic hybridization profiling reveals novel gains and losses of chromosomal regions in Hodgkin Lymphoma and Anaplastic Large Cell Lymphoma cell lines

    Directory of Open Access Journals (Sweden)

    Lam Wan L

    2008-01-01

    Full Text Available Abstract Background Hodgkin lymphoma (HL and Anaplastic Large Cell Lymphoma (ALCL, are forms of malignant lymphoma defined by unique morphologic, immunophenotypic, genotypic, and clinical characteristics, but both overexpress CD30. We used sub-megabase resolution tiling (SMRT array-based comparative genomic hybridization to screen HL-derived cell lines (KMH2 and L428 and ALCL cell lines (DEL and SR-786 in order to identify disease-associated gene copy number gains and losses. Results Significant copy number gains and losses were observed on several chromosomes in all four cell lines. Assessment of copy number alterations with 26,819 DNA segments identified an average of 20 genetic alterations. Of the recurrent minimally altered regions identified, 11 (55% were within previously published regions of chromosomal alterations in HL and ALCL cell lines while 9 (45% were novel alterations not previously reported. HL cell lines L428 and KMH2 shared gains in chromosome cytobands 2q23.1-q24.2, 7q32.2-q36.3, 9p21.3-p13.3, 12q13.13-q14.1, and losses in 13q12.13-q12.3, and 18q21.32-q23. ALCL cell lines SR-786 and DEL, showed gains in cytobands 5p15.32-p14.3, 20p12.3-q13.11, and 20q13.2-q13.32. Both pairs of HL and ALCL cell lines showed losses in 18q21.32-18q23. Conclusion This study is considered to be the first one describing HL and ALCL cell line genomes at sub-megabase resolution. This high-resolution analysis allowed us to propose novel candidate target genes that could potentially contribute to the pathogenesis of HL and ALCL. FISH was used to confirm the amplification of all three isoforms of the trypsin gene (PRSS1/PRSS2/PRSS3 in KMH2 and L428 (HL and DEL (ALCL cell lines. These are novel findings that have not been previously reported in the lymphoma literature, and opens up an entirely new area of research that has not been previously associated with lymphoma biology. The findings raise interesting possibilities about the role of signaling

  10. DNA fingerprinting tags novel altered chromosomal regions and identifies the involvement of SOX5 in the progression of prostate cancer.

    Science.gov (United States)

    Ma, Stephanie; Chan, Yuen Piu; Woolcock, Bruce; Hu, Liang; Wong, Kai Yau; Ling, Ming Tat; Bainbridge, Terry; Webber, Douglas; Chan, Tim Hon Man; Guan, Xin-Yuan; Lam, Wan; Vielkind, Juergen; Chan, Kwok Wah

    2009-05-15

    Identification of genomic alterations associated with the progression of prostate cancer may facilitate the better understanding of the development of this highly variable disease. Matched normal, premalignant high-grade prostatic intraepithelial neoplasia and invasive prostate carcinoma cells were procured by laser capture microdissection (LCM) from human radical prostatectomy specimens. From these cells, comparative DNA fingerprints were generated by a modified PCR-based technique called scanning of microdissected archival lesion (SMAL)-PCR. Recurrent polymorphic fingerprint fragments were used in tagging altered chromosomal regions. Altered regions were found at cytobands 1p31.3, 1q44, 2p23.1, 3p26.3, 3q22.3, 4q22.3, 4q35.2, 5q23.2, 8q22.3, 8q24.13, 9q21.3, 9q22.32, 10q11.21, 11p13, 12p12.1, 13q12.1, 16q12.2 and 18q21.31. Candidate genes in the surrounding area that may possibly harbor mutations that change normal prostatic cells to progress into their tumor stages were proposed. Of these fragments, a 420 bp alteration, absent in all 26 normal samples screened, was observed in 2 tumors. This fragment was cloned, sequenced and localized to chromosome 12p12.1. Within this region, candidate gene sex determining region Y-box 5 (SOX5) was proposed. Further studies of SOX5 in cell lines, xenografts and human prostate specimens, at both the RNA and protein levels, found overexpression of the gene in tumors. This overexpression was then subsequently found by fluorescent in situ hybridization to be caused by amplification of the region. In conclusion, our results suggest LCM coupled with SMAL-PCR DNA fingerprinting is a useful method for the screening and identification of chromosomal regions and genes associated with cancer development. Further, overexpression of SOX5 is associated with prostate tumor progression and early development of distant metastasis. (c) 2008 Wiley-Liss, Inc.

  11. Creative Activities in Music--A Genome-Wide Linkage Analysis.

    Science.gov (United States)

    Oikkonen, Jaana; Kuusi, Tuire; Peltonen, Petri; Raijas, Pirre; Ukkola-Vuoti, Liisa; Karma, Kai; Onkamo, Päivi; Järvelä, Irma

    2016-01-01

    Creative activities in music represent a complex cognitive function of the human brain, whose biological basis is largely unknown. In order to elucidate the biological background of creative activities in music we performed genome-wide linkage and linkage disequilibrium (LD) scans in musically experienced individuals characterised for self-reported composing, arranging and non-music related creativity. The participants consisted of 474 individuals from 79 families, and 103 sporadic individuals. We found promising evidence for linkage at 16p12.1-q12.1 for arranging (LOD 2.75, 120 cases), 4q22.1 for composing (LOD 2.15, 103 cases) and Xp11.23 for non-music related creativity (LOD 2.50, 259 cases). Surprisingly, statistically significant evidence for linkage was found for the opposite phenotype of creative activity in music (neither composing nor arranging; NCNA) at 18q21 (LOD 3.09, 149 cases), which contains cadherin genes like CDH7 and CDH19. The locus at 4q22.1 overlaps the previously identified region of musical aptitude, music perception and performance giving further support for this region as a candidate region for broad range of music-related traits. The other regions at 18q21 and 16p12.1-q12.1 are also adjacent to the previously identified loci with musical aptitude. Pathway analysis of the genes suggestively associated with composing suggested an overrepresentation of the cerebellar long-term depression pathway (LTD), which is a cellular model for synaptic plasticity. The LTD also includes cadherins and AMPA receptors, whose component GSG1L was linked to arranging. These results suggest that molecular pathways linked to memory and learning via LTD affect music-related creative behaviour. Musical creativity is a complex phenotype where a common background with musicality and intelligence has been proposed. Here, we implicate genetic regions affecting music-related creative behaviour, which also include genes with neuropsychiatric associations. We also propose

  12. Creative Activities in Music--A Genome-Wide Linkage Analysis.

    Directory of Open Access Journals (Sweden)

    Jaana Oikkonen

    Full Text Available Creative activities in music represent a complex cognitive function of the human brain, whose biological basis is largely unknown. In order to elucidate the biological background of creative activities in music we performed genome-wide linkage and linkage disequilibrium (LD scans in musically experienced individuals characterised for self-reported composing, arranging and non-music related creativity. The participants consisted of 474 individuals from 79 families, and 103 sporadic individuals. We found promising evidence for linkage at 16p12.1-q12.1 for arranging (LOD 2.75, 120 cases, 4q22.1 for composing (LOD 2.15, 103 cases and Xp11.23 for non-music related creativity (LOD 2.50, 259 cases. Surprisingly, statistically significant evidence for linkage was found for the opposite phenotype of creative activity in music (neither composing nor arranging; NCNA at 18q21 (LOD 3.09, 149 cases, which contains cadherin genes like CDH7 and CDH19. The locus at 4q22.1 overlaps the previously identified region of musical aptitude, music perception and performance giving further support for this region as a candidate region for broad range of music-related traits. The other regions at 18q21 and 16p12.1-q12.1 are also adjacent to the previously identified loci with musical aptitude. Pathway analysis of the genes suggestively associated with composing suggested an overrepresentation of the cerebellar long-term depression pathway (LTD, which is a cellular model for synaptic plasticity. The LTD also includes cadherins and AMPA receptors, whose component GSG1L was linked to arranging. These results suggest that molecular pathways linked to memory and learning via LTD affect music-related creative behaviour. Musical creativity is a complex phenotype where a common background with musicality and intelligence has been proposed. Here, we implicate genetic regions affecting music-related creative behaviour, which also include genes with neuropsychiatric associations. We

  13. Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.

    Directory of Open Access Journals (Sweden)

    Claire L Simpson

    Full Text Available Refractive error (RE is a complex, multifactorial disorder characterized by a mismatch between the optical power of the eye and its axial length that causes object images to be focused off the retina. The two major subtypes of RE are myopia (nearsightedness and hyperopia (farsightedness, which represent opposite ends of the distribution of the quantitative measure of spherical refraction. We performed a fixed effects meta-analysis of genome-wide association results of myopia and hyperopia from 9 studies of European-derived populations: AREDS, KORA, FES, OGP-Talana, MESA, RSI, RSII, RSIII and ERF. One genome-wide significant region was observed for myopia, corresponding to a previously identified myopia locus on 8q12 (p = 1.25×10(-8, which has been reported by Kiefer et al. as significantly associated with myopia age at onset and Verhoeven et al. as significantly associated to mean spherical-equivalent (MSE refractive error. We observed two genome-wide significant associations with hyperopia. These regions overlapped with loci on 15q14 (minimum p value = 9.11×10(-11 and 8q12 (minimum p value 1.82×10(-11 previously reported for MSE and myopia age at onset. We also used an intermarker linkage- disequilibrium-based method for calculating the effective number of tests in targeted regional replication analyses. We analyzed myopia (which represents the closest phenotype in our data to the one used by Kiefer et al. and showed replication of 10 additional loci associated with myopia previously reported by Kiefer et al. This is the first replication of these loci using myopia as the trait under analysis. "Replication-level" association was also seen between hyperopia and 12 of Kiefer et al.'s published loci. For the loci that show evidence of association to both myopia and hyperopia, the estimated effect of the risk alleles were in opposite directions for the two traits. This suggests that these loci are important contributors to variation of

  14. Comparative effects of amlodipine and benazepril on Left Atrial Pressure in Dogs with experimentally-induced Mitral Valve Regurgitation

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    Suzuki Shuji

    2012-09-01

    Full Text Available Abstract Background One of the purposes of treatment for dogs with mitral regurgitation (MR is lowering left atrial pressure (LAP. There has been few study of the amlodipine in dogs with MR and amlodipine’s effect on LAP has not been fully evaluated in a quantitative manner because of difficulties in directly measuring LAP. The objective of our study was to compare the short-term effects of amlodipine (0.2 mg/kg PO q12h vs benazepril (0.5 mg/kg PO q12h, on LAP and echocardiographic parameters in five beagle dogs with experimentally-induced MR. LAP of eight dogs that has own control were measured using radiotelemetry system at baseline and again on days 1, 2, 3, 4, 5, 6, 7 of the drug administration. Results Mean LAP decreased significantly after amlodipine (11.20 ± 4.19 mmHg vs 14.61 ± 3.81 mmHg at baseline, p  .05. LAP was lower after 7 days of amlodipine treatment than after 7 days of benazepril treatment. Significant reduction was seen for the first time 4 days after the administration amlodipine. The rate of the maximal area of the regurgitant jet signals to the left atrium area (ARJ/LAA of the amlodipine treatment was significantly lower (p  Conclusions LAP was significantly decreased after amlodipine treatment in dogs with surgically-induced MR but not after benazepril treatment. Although this study did not focus on adverse effects, amlodipine may be an effective drug for helping the patients with acute onset of severe MR, such as rupture of chordae tendinae or end stage patients were the LAP is likely to be elevated. Additional studies in clinical patients with degenerative mitral valve disease and acute chordal rupture are warranted because the blood-pressure lowering effects of amlodipine can decrease renal perfusion and this can further activate the RAAS.

  15. Integration of DNA copy number alterations and transcriptional expression analysis in human gastric cancer.

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    Biao Fan

    Full Text Available BACKGROUND: Genomic instability with frequent DNA copy number alterations is one of the key hallmarks of carcinogenesis. The chromosomal regions with frequent DNA copy number gain and loss in human gastric cancer are still poorly defined. It remains unknown how the DNA copy number variations contributes to the changes of gene expression profiles, especially on the global level. PRINCIPAL FINDINGS: We analyzed DNA copy number alterations in 64 human gastric cancer samples and 8 gastric cancer cell lines using bacterial artificial chromosome (BAC arrays based comparative genomic hybridization (aCGH. Statistical analysis was applied to correlate previously published gene expression data obtained from cDNA microarrays with corresponding DNA copy number variation data to identify candidate oncogenes and tumor suppressor genes. We found that gastric cancer samples showed recurrent DNA copy number variations, including gains at 5p, 8q, 20p, 20q, and losses at 4q, 9p, 18q, 21q. The most frequent regions of amplification were 20q12 (7/72, 20q12-20q13.1 (12/72, 20q13.1-20q13.2 (11/72 and 20q13.2-20q13.3 (6/72. The most frequent deleted region was 9p21 (8/72. Correlating gene expression array data with aCGH identified 321 candidate oncogenes, which were overexpressed and showed frequent DNA copy number gains; and 12 candidate tumor suppressor genes which were down-regulated and showed frequent DNA copy number losses in human gastric cancers. Three networks of significantly expressed genes in gastric cancer samples were identified by ingenuity pathway analysis. CONCLUSIONS: This study provides insight into DNA copy number variations and their contribution to altered gene expression profiles during human gastric cancer development. It provides novel candidate driver oncogenes or tumor suppressor genes for human gastric cancer, useful pathway maps for the future understanding of the molecular pathogenesis of this malignancy, and the construction of new

  16. Omeprazole Minimally Alters the Fecal Microbial Community in Six Cats: A Pilot Study

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    Sarah M. Schmid

    2018-04-01

    Full Text Available Although they have historically been thought of as safe medications, proton pump inhibitors such as omeprazole have been associated with an increased risk of enteric, particularly Clostridium difficile, infections in people. In cats, omeprazole is often the first choice acid suppressant prescribed for the treatment of upper gastrointestinal (GI ulceration and bleeding. Despite this, no studies to date have explored the effect of omeprazole on the feline fecal microbiome and metabolome. Therefore, the purpose of this pilot study was to evaluate the effect of prolonged omeprazole administration on the fecal microbiome and metabolome in healthy cats to identify targets for analysis in a larger subset of cats with GI disease. A within-subjects, before and after, pilot study was performed whereby six healthy adult cats received 60 days of placebo (250 mg lactose PO q 12 h followed by 5 mg (0.83–1.6 mg/kg PO q 12 h omeprazole. On days 0, 30, and 60 of placebo and omeprazole therapy, the fecal microbiome and metabolome were characterized utilizing 16S ribosomal RNA sequencing by Illumina and untargeted mass spectrometry-based methods, respectively. Omeprazole administration resulted in no significant changes in the global microbiome structure or richness. However, transient changes were noted in select bacterial groups with omeprazole administration resulting in an increased sequence percentage of Streptococcus, Lactobacillus, Clostridium, and Faecalibacterium spp. and a decreased sequence percentage of Bifidobacterium spp. Significance was lost for all of these bacterial groups after adjustment for multiple comparisons. The fecal concentration of O-acetylserine and aminomalonate decreased with omeprazole therapy, but significance was lost after adjustment for multiple comparisons. The results of this pilot study conclude that omeprazole has a mild and transient impact on the fecal microbiome and metabolome when orally administered to

  17. Association between Copy Number Variation Losses and Alcohol Dependence across African American and European American Ethnic Groups

    Science.gov (United States)

    Ulloa, Alvaro Emilio; Chen, Jiayu; Vergara, Victor Manuel; Calhoun, Vince; Liu, Jingyu

    2014-01-01

    Background Copy number variations (CNVs) are structural genetic mutations consisting of segmental gains or losses in DNA sequence. Although CNVs contribute substantially to genomic variation, few genetic and imaging studies report association of CNVs with alcohol dependence (AD). Our purpose is to find evidence of this association across ethnic populations and genders. This work is the first AD-CNV study across ethnic groups and the first to include the African American population. Methods This study considers two CNV datasets, one for discovery (2,345 samples) and the other for validation (239 samples), both including subjects with AD and healthy controls of European and African ancestry. Our analysis assesses the association between AD and CNV losses across ethnic groups and gender by examining the effect of overall losses across the whole genome, collective losses within individual cytogenetic bands and specific losses in CNV regions. Results Results from the discovery dataset showed an association between CNV losses within 16q12.2 and AD diagnosis (p = 4.53x10−3). An overlapping CNV region from the validation dataset exhibited the same direction of effect with respect to AD (p = 0.051). This CNV region affects the genes CES1p1 and CES1, which are members of the carboxylesterase (CES) family. The enzyme encoded by CES1 is a major liver enzyme that typically catalyzes the decomposition of ester into alcohol and carboxylic acid and is involved in drug or xenobiotics, fatty acid and cholesterol metabolisms. In addition, the most significantly associated CNV region was located at 9p21.2 (p = 1.9×10−3) in our discovery dataset. Although not observed in the validation dataset, probably due to small sample size, this result might hold potential connection to AD given its connection with neuronal death. In contrast, we did not find any association between AD and the overall total losses or the collective losses within individual cytogenetic bands. Conclusions

  18. Neocentric X-chromosome in a girl with Turner-like syndrome

    Directory of Open Access Journals (Sweden)

    Hemmat Morteza

    2012-06-01

    Full Text Available Abstract Background Neocentromeres are rare human chromosomal aberrations in which a new centromere has formed in a previously non-centromeric location. We report the finding of a structurally abnormal X chromosome with a neocentromere in a 15-year-old girl with clinical features suggestive of Turner syndrome, including short stature and primary amenorrhea. Result G-banded chromosome analysis revealed a mosaic female karyotype involving two abnormal cell lines. One cell line (84% of analyzed metaphases had a structurally abnormal X chromosome (duplication of the long arm and deletion of the short arm and a normal X chromosome. The other cell line (16% of cells exhibited monosomy X. C-banding studies were negative for the abnormal X chromosome. FISH analysis revealed lack of hybridization of the abnormal X chromosome with both the X centromere-specific probe and the “all human centromeres” probe, a pattern consistent with lack of the X chromosome endogenous centromere. A FISH study using an XIST gene probe revealed the presence of two XIST genes, one on each long arm of the iso(Xq, required for inactivation of the abnormal X chromosome. R-banding also demonstrated inactivation of the abnormal X chromosome. An assay for centromeric protein C (CENP-C was positive on both the normal and the abnormal X chromosomes. The position of CENP-C in the abnormal X chromosome defined a neocentromere, which explains its mitotic stability. The karyotype is thus designated as 46,X,neo(X(qter- > q12::q12- > q21.2- > neo- > q21.2- > qter[42]/45,X[8], which is consistent with stigmata of Turner syndrome. The mother of this patient has a normal karyotype; however, the father was not available for study. Conclusion To our knowledge, this is the first case of mosaic Turner syndrome involving an analphoid iso(Xq chromosome with a proven neocentromere among 90 previously described cases with a proven neocentromere.

  19. Clinical efficacy of oral linezolid compared with intravenous vancomycin for the treatment of methicillin-resistant Staphylococcus aureus-complicated skin and soft tissue infections: a retrospective, propensity score-matched, case-control analysis.

    Science.gov (United States)

    Itani, Kamal M F; Biswas, Pinaki; Reisman, Arlene; Bhattacharyya, Helen; Baruch, Alice M

    2012-08-01

    Linezolid is 100% bioavailable in oral and intravenous formulations. In a recent prospective, randomized, open-label, comparator-controlled, multicenter, phase 4 clinical trial in adults with complicated skin and soft tissue infections (cSSTIs) caused by methicillin-resistant Staphylococcus aureus (MRSA), linezolid achieved clinical and microbiologic success comparable to appropriately dosed intravenous vancomycin. Although patients were randomly assigned to receive linezolid or vancomycin, the protocol allowed patients to start therapy using oral or intravenous linezolid on the basis of investigator discretion and patient ability to tolerate oral medication. The objective of this study was to assess the efficacy and tolerability of linezolid when administered orally in adults with cSSTI caused by MRSA. In this retrospective analysis, we examined data collected from the aforementioned trial to compare outcomes in patients who received either oral linezolid or intravenous vancomycin therapy. This study analyzed outcomes in patients who received treatment for 7 to 14 days with either oral linezolid (600 mg q12h; n = 95) or intravenous vancomycin (15 mg/kg q12h, adjusted for creatinine clearance and trough concentration; n = 210). By design, these groups were not randomized. Propensity score matching on baseline variables was used to balance these groups by identifying a comparable group of patients who received vancomycin therapy and comparing them with patients who received oral linezolid therapy. Clinical and microbiologic success rates at the end of treatment and the end of the study (EOS) were then directly compared between the groups using matched-pair logistic regression. The tolerability of the 2 treatments (within this matched group) was also described. Ninety-two patients with well-matched baseline characteristics were included in each treatment group. At EOS, the odds ratio for clinical success of oral linezolid therapy vs intravenous vancomycin therapy was

  20. Posterior tension band wiring and instrumentation for thoracolumbar flexion-distraction injuries.

    Science.gov (United States)

    Hasankhani, E G; Omidi-Kashani, F

    2014-04-01

    To evaluate treatment outcome of tension band wiring followed by posterior spinal fusion and instrumentation for thoracolumbar flexiondistraction injury (FDI). 36 men and 12 women aged 21 to 56 (mean, 36) years underwent tension band wiring followed by posterior spinal fusion and instrumentation using pedicular screws for FDI of the thoracolumbar spine. The injured vertebral levels were T11 (n=2), T12 (n=12), T11-T12 (n=1), T12-L1 (n=1), L1 (n=28), and L2 (n=4). Anterior vertebral body height and kyphosis were measured before and after surgery. Neurologic status was assessed using the American Spinal Injury Association (ASIA) scale. The Oswestry Disability Index questionnaire and visual analogue scale for pain were also used. The mean follow-up was 38 (range, 26-72) months. At final follow-up, the mean visual analogue scale for pain was 1.7, and the median Oswestry Disability Index was 4% (range, 0-32%). The mean anterior vertebral body height improved from 20.5 to 38.8 mm (pwiring followed by posterior spinal fusion and instrumentation for thoracolumbar FDIs achieved good outcome.

  1. Translocations of 14q32 and deletions of 13q14 are common chromosomal abnormalities in systemic amyloidosis.

    Science.gov (United States)

    Harrison, Christine J; Mazzullo, Helen; Ross, Fiona M; Cheung, Kan L; Gerrard, Gareth; Harewood, Louise; Mehta, Atul; Lachmann, Helen J; Hawkins, Philip N; Orchard, Kim H

    2002-05-01

    Systemic monoclonal immunoglobulin light chain amyloidosis (AL) is associated with clonal plasma cell dyscrasias that are often subtle and non-proliferating. AL shares numerical chromosomal changes with multiple myeloma (MM) and monoclonal gammopathy of undetermined significance (MGUS). Illegitimate translocations involving the immunoglobulin heavy chain gene (IGH) at 14q32 and deletions of the long arm of chromosome 13, [del(13q)], commonly occur in MM, MGUS and plasma cell leukaemia. In AL IGH rearrangements have been identified but, to date, there are no reports of del(13q). In this study of 32 patients with AL, 24 with systemic and eight with localized disease, translocations involving IGH and del(13q) were found using dual-colour interphase fluorescence in situ hybridization (FISH). IGH translocations were observed in 11 patients (37% overall and in 46% with systemic disease), of which nine had the IGH/CCND1 fusion from t(11;14)(q13;q32). Two showed IGH translocations other than the t(11;14) or t(4;14)(p16;q32). In one of these patients a breakpoint within the constant region of IGH between Calpha1 and Calpha2 was indicated. In the second a deletion covering Calpha1 and Calpha2 accompanied the translocation. Ten patients (27% overall and 33% of those with systemic disease) showed del(13q). The gain or loss of IGH and CCND1 signals provided evidence of numerical chromosomal changes in three patients.

  2. Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease.

    Science.gov (United States)

    Prieto, Juan C; Garcia, Nilda M; Elder, Frederick F; Zinn, Andrew R; Baker, Linda A

    2007-11-01

    Phenotypically healthy carriers of the balanced 11;22 translocation, the most frequent non-Robertsonian constitutional translocation known in human beings, are at risk of having a progeny with supernumerary derivative (22)t(11;22) syndrome [der(22) syndrome]. We present the cases of 2 male patients with supernumerary der(22) syndrome [47,XY,+der(22)t(11;22)(q23;q11.2)mat], yielding partial trisomy for 22pter-q11 and 11q23-qter. These cases expand the phenotype of the der(22) syndrome, with the first case highlighting the phenotypic overlap of VACTERL and the second adding Hirschsprung's disease and intestinal malrotation to the list of associated anorectal anomalies. Because der(22) syndrome and cat eye syndrome (partial tetrasomy of 22q11) share a similar region of extra dosage on 22q11 and both typically manifest an anorectal phenotype, a dosage-sensitive gene for anorectal anomalies may be present in this locus.

  3. CERN Technical training: Available places in forthcoming courses

    CERN Multimedia

    HR Department

    2011-01-01

    The following course sessions are scheduled in the framework of the 2011 CERN Technical Training Programme and places are still available. You can find the full updated Technical Training course programme in our web catalogue. Software and system technologies CERN openlab/Intel Computer Architecture and Performance Tuning Workshop\t08-Feb-11\t09-Feb-11\tEnglish\t2 days Introduction to Databases and Database Design\t10-Mar-11\t11-Mar-11\tEnglish\t2 days JAVA - Level 2\t17-Jan-11\t20-Jan-11\tEnglish\t4 days JCOP-Joint PVSS-JCOP Framework\t14-Mar-11\t18-Mar-11\tEnglish\t4.5 days ORACLE-SQL\t16-Mar-11\t18-Mar-11\tEnglish\t3 days Oracle Databases: Advanced PL/SQL Programming\t21-Mar-11\t23-Mar-11\tEnglish\t3 days Linux LPI 101 - Introduction à Linux et LPI 102 Administration systèmes sur Linux\t8-Mar-11\t11-Mar-11\tFrançais\t4 jours Electronic design Siemens - STEP7: Level 1\t15-feb-11\t18-feb-11\tFrançais\t4 jours Mechanical Design ANSYS Workbench advanced\t31-Jan-11\t03-Feb-11\tEnglish\t4 days ANS...

  4. A Rare Case of Pott's Disease (Spinal Tuberculosis) Mimicking Metastatic Disease in the Southern Region of Denmark.

    Science.gov (United States)

    Osmanagic, Azra; Emamifar, Amir; Christian Bang, Jacob; Jensen Hansen, Inger Marie

    2016-06-07

    Pott's disease (PD) or spinal tuberculosis is a rare condition which accounts for less than 1% of total tuberculosis (TB) cases. The incidence of PD has recently increased in Europe and the United States, mainly due to immigration; however, it is still a rare diagnosis in Scandinavian countries, and if overlooked it might lead to significant neurologic complications. A 78-year-old woman, originally from Eastern Europe, presented to the emergency department with a complaint of nausea, vomiting, weight loss, and severe back pain. On admission she was febrile and had leukocytosis and increased C-reactive protein. Initial spinal x-ray was performed and revealed osteolytic changes in the vertebral body of T11 and T12. Magnetic resonance imaging (MRI) of the spine illustrated spondylitis of T10, T11, and T12, with multiple paravertebral and epidural abscesses, which was suggestive of PD. Polymerase chain reaction (PCR) of the patient's gastric fluid was positive for Mycobacterium tuberculosis (MT). Based on MRI and PCR findings, standard treatment for TB was initiated. Results of the spine biopsy and culture showed colonies of MT and confirmed the diagnosis afterwards. Due to the instability of the spine and severe and continuous pain, spine-stabilizing surgery was performed. Her TB was cured after nine months of treatment. PD is an important differential diagnosis of malignancy that should be diagnosed instantly. History of exposure to TB and classic radiologic finding can help make the diagnosis.

  5. Detection and Molecular Characterization of Potentially Pathogenic Free-living Amoebae from Water Sources in Kish Island, Southern Iran.

    Science.gov (United States)

    Niyyati, Maryam; Lasgerdi, Zohreh; Lorenzo-Morales, Jacob

    2015-01-01

    Amoebic keratitis, a sight-threatening corneal infection, mainly occurs in contact lens wearers who wash their eyes with tap water. The present research was conducted to identify the occurrence of potentially pathogenic free-living amoebae (FLA) in tap water sources on Kish Island, a tourist region in Iran. Amoebae were detected using a culture-enriched method and by polymerase chain reaction (PCR)/sequencing of the diagnostic fragment 3 region of the 18S rRNA gene of Acanthamoeba. In the case of other free-living amoebae species, PCR/sequencing analysis of the 18S rDNA was conducted. Results of this study showed the presence of Acanthamoeba belonging to T3, T4, T5, and T11 genotypes in tap water sources. Additionally, Vermamoebae vermiformis was detected in three water samples. This is the first report of the Acanthamoeba genotypes T3, T4, T5, and T11 and V. vermiformis species in tap water sources in a tourist region in Iran.

  6. Primary and secondary sexual characters in alternative reproductive tactics of Chinook salmon: Associations with androgens and the maturation-inducing steroid.

    Science.gov (United States)

    Butts, Ian A E; Love, Oliver P; Farwell, Michelle; Pitcher, Trevor E

    2012-02-01

    The proximate mechanisms that underlie the evolution of within-sex variation in mating behavior, sexual characters and reproductive investment patterns are still poorly understood. Species exhibiting alternative reproductive tactics (ARTs) are ideal model systems to examine these mechanisms. Chinook salmon (Oncorhynchus tshawytscha) exhibits two distinct ARTs: hooknoses, which are large males that establish spawning dominance hierarchies via intense male-male competition and jacks, which are smaller precocious sneaking males that steal fertilizations via sperm competition. In this study, we examine plasma testosterone (T), 11-ketotestosterone (11-KT) and maturation-inducing steroid (MIS; 17α,20β-dihydroxy-4-pregnen-3-one) profiles of spawning hooknoses and jacks. Furthermore, we examine relationships between androgens and primary (gonad mass, gonadosomatic index and sperm traits) and secondary (total mass, body size, hump depth and kype length) sexual characters. Relationships between MIS and sperm traits are also examined. We found that hooknoses and jacks did not significantly differ in terms of plasma T, 11-KT or MIS concentrations. Moreover, we found significant positive relationships between levels of both androgens within each ART. There were no significant relationships between androgens, MIS and sperm traits. T and 11-KT concentrations co-varied positively with gonad investment and kype length in jacks. In hooknoses, 11-KT concentration was positively related to total mass, hump depth and condition factor. Overall, these findings suggest that there are differential androgen effects for each of the ARTs in Chinook salmon. Crown Copyright © 2011. Published by Elsevier Inc. All rights reserved.

  7. Microwave interaction with hot electron plasmas

    International Nuclear Information System (INIS)

    Tanaka, M.; Fujiwara, M.; Ikegami, H.

    1980-01-01

    A numerical calculation is presented of ray trajectories and cyclotron damping for toroidal plasmas using geometrical optics. In the absorption region, group velocity does not always coincide with the velocity of energy flow, therefore it should be careful to apply the geometrical optics to finite temperature plasmas. In these calculations, attention is paid mainly to the finite temperature effect on ray tracing. Some numerical results for ordinary waves are presented. Second, new cutoff and resonance appear in the plasmas with anisotropic electron temperature. This resonance frequency is shifted from the usual cyclotron resonance by an amount proportional to T 11 /mc 2 , so that one can determine T 11 when this resonance frequency is measured. A simple discussion is given. The results are presented of recent density measurement on Nagoya Bumpy Torus obtained by interferometer system with different frequencies, 35 GHz and 55 GHz. The results are different than each other in T-mode. The possible reasons for these differences are enumerated in this section

  8. trans-11 18:1 Vaccenic Acid (TVA Has a Direct Anti-Carcinogenic Effect on MCF-7 Human Mammary Adenocarcinoma Cells

    Directory of Open Access Journals (Sweden)

    Ji-Na Lim

    2014-02-01

    Full Text Available Trans vaccenic acid (TVA; trans-11 18:1 is a positional and geometric isomer of oleic acid and it is the predominant trans isomer found in ruminant fats. TVA can be converted into cis-9, trans-11 conjugated linoleic acid (c9, t11-CLA, a CLA isomer that has many beneficial effects, by stearoyl CoA desaturase 1 (SCD1 in the mammary gland. The health benefits associated with CLA are well documented, but it is unclear whether trans fatty acids (TFAs from ruminant products have healthy effects. Therefore, the effects of TVA on the proliferation of MCF-7 human breast adenocarcinoma cells and MCF-10A human breast epithelial cells were investigated in the present study. Results showed that TVA inhibited the proliferation of MCF-7 cells but not MCF-10A cells by down-regulating the expression of Bcl-2 as well as procaspase-9. In addition, the suppressive effect of TVA was confirmed in SCD1-depleted MCF-7 cells. Our results suggested that TVA exerts a direct anti-carcinogenic effect on MCF-7 cells. These findings provided a better understanding of the research on the anti-carcinogenic effects of TVA and this may facilitate the manufacture of TVA/c9, t11-CLA fortified ruminant products.

  9. Acute myeloid leukemia with NUP98-HOXC13 fusion and FLT3 internal tandem duplication mutation: case report and literature review.

    Science.gov (United States)

    Tosić, Natasa; Stojiljković, Maja; Colović, Natasa; Colović, Milica; Pavlović, Sonja

    2009-09-01

    The NUP98 gene at chromosome band 11p15 is known to be fused to a number of different partners in various hematological malignancies. The most frequently observed fusion partners of NUP98 are the homeobox family of transcriptional factors (HOX genes). We report a case of de novo AML M4 subtype, with a t(11;12)(p15;q13) translocation, generating a NUP98-HOXC13 chimeric transcript. Molecular analysis showed that the exon 16 of NUP98 was fused in frame with exon 2 of HOXC13. The patient was also positive for FLT3 internal tandem duplication (ITD), another molecular marker for the disease. Comparative study of data on the fusion of HOXC cluster and NUP98 gene revealed that it is a rare event, found exclusively in AML patients. To our knowledge, this is the first case of t(11;12)(p15;q13) in de novo AML-M4 in association with FLT3 ITD mutation. Coexistence of NUP98-HOXC13 fusion and FLT3 ITD mutation is likely relevant in the process of leukemogenesis.

  10. Subcutaneous 'lipoma-like' B-cell lymphoma associated with HCV infection: a new presentation of primary extranodal marginal zone B-cell lymphoma of MALT.

    Science.gov (United States)

    Paulli, M; Arcaini, L; Lucioni, M; Boveri, E; Capello, D; Passamonti, F; Merli, M; Rattotti, S; Rossi, D; Riboni, R; Berti, E; Magrini, U; Bruno, R; Gaidano, G; Lazzarino, M

    2010-06-01

    Hepatitis C virus (HCV) infection has been linked to lymphoproliferative disorders. Marginal zone B-cell lymphoma (MZL) represents one of the most frequent lymphoma subtypes associated with HCV infection. We describe an unusual subset of HCV-associated MZL characterized by subcutaneous presentation. A series of 12 HCV-positive patients presenting with subcutaneous nodules that revealed lymphoma infiltration at biopsy. Molecular analysis of immunoglobulin heavy chain (IGH) gene rearrangement and FISH investigations for t(11;18)(q21;q21) and t(14;18)(q32;q21) were carried out in nine patients. The 12 patients (median age 69.5 years), all with positive HCV serology, presented with single or multiple subcutaneous nodules resembling lipomas. Histologically the lesions showed lymphoid infiltrates, consistent with extranodal MZL of mucosa-associated lymphoid tissue (MALT). Functional IGH gene rearrangements were identified in nine tested patients, with somatic mutations in 82%, indicating a histogenesis from germinal center-experienced B cells. The t(11;18) was found in two of nine cases. Staging did not show any other lymphoma localization. In two patients, a response was achieved with antiviral treatment. Extracutaneous spread to MALT sites occurred in a case. Our observations expand the spectrum of HCV-associated lymphomas to include a subset of extranodal MZL characterized by a novel primary 'lipoma-like' subcutaneous presentation and indolent clinical course.

  11. A simple method for the detection of PM2.5 air pollutions using MODIS data

    Science.gov (United States)

    Kato, Yoshinobu

    2016-05-01

    In recent years, PM2.5 air pollution is a social and transboundary environmental issue with the rapid economic growth in many countries. As PM2.5 is small and includes various ingredients, the detection of PM2.5 air pollutions by using satellite data is difficult compared with the detection of dust and sandstorms. In this paper, we examine various images (i.e., single-band images, band-difference images, RGB composite color images) to find a good method for detecting PM2.5 air pollutions by using MODIS data. A good method for the detection of PM2.5 air pollution is {R, G, B = band10, band9, T11}, where T11 is the brightness temperature of band31. In this composite color image, PM2.5 air pollutions are represented by light purple or pink color. This proposed method is simpler than the method by Nagatani et al. (2013), and is useful to grasp the distribution of PM2.5 air pollutions in the wide area (e.g., from China and India to Japan). By comparing AVI image with the image by proposed method, DSS and PM2.5 air pollutions can be classified.

  12. Cement augmentation versus extended dorsal instrumentation in the treatment of osteoporotic vertebral fractures: a biomechanical comparison.

    Science.gov (United States)

    Weiser, L; Dreimann, M; Huber, G; Sellenschloh, K; Püschel, K; Morlock, M M; Rueger, J M; Lehmann, W

    2016-08-01

    Loosening of pedicle screws is a major complication of posterior spinal stabilisation, especially in the osteoporotic spine. Our aim was to evaluate the effect of cement augmentation compared with extended dorsal instrumentation on the stability of posterior spinal fixation. A total of 12 osteoporotic human cadaveric spines (T11-L3) were randomised by bone mineral density into two groups and instrumented with pedicle screws: group I (SHORT) separated T12 or L2 and group II (EXTENDED) specimen consisting of T11/12 to L2/3. Screws were augmented with cement unilaterally in each vertebra. Fatigue testing was performed using a cranial-caudal sinusoidal, cyclic (1.0 Hz) load with stepwise increasing peak force. Augmentation showed no significant increase in the mean cycles to failure and fatigue force (SHORT p = 0.067; EXTENDED p = 0.239). Extending the instrumentation resulted in a significantly increased number of cycles to failure and a significantly higher fatigue force compared with the SHORT instrumentation (EXTENDED non-augmented + 76%, p osteoporotic spine compared with cement augmentation. Cite this article: Bone Joint J 2016;98-B:1099-1105. ©2016 The British Editorial Society of Bone & Joint Surgery.

  13. Morphological, genotypic, and physiological characterization of Acanthamoeba isolates from keratitis patients and the domestic environment in Vitoria, Espírito Santo, Brazil.

    Science.gov (United States)

    Duarte, Juliana L; Furst, Cinthia; Klisiowicz, Débora R; Klassen, Giseli; Costa, Adriana O

    2013-09-01

    Amoebae of the genus Acanthamoeba are free-living protozoa that can cause granulomatous encephalitis and keratitis in humans. In this study, four clinical and three household dust isolates obtained in Vitória, Espírito Santo, Brazil were characterized by their morphological, genotypic, and physiological properties. All isolates belonged to group II according to Pussard and Pons' cyst morphology. Analysis of their 18S rDNA sequence identified one isolate from household dust as genotype T11 and the others six samples as genotype T4. Five T4 isolates presented a highly variable region (DF3) in 18S rDNA identical to those previously described. Physiological assays carried out with trophozoites in co-culture with bacteria or in axenic conditions showed all samples tolerated temperatures up to 37°C, regardless of culture method. One keratitis isolate grew at 42°C in co-culture with bacteria. Most isolates in co-culture survived at 1.0M, except a T11 isolate, which tolerated up to 0.5M. The isolates did not grow at 42°C and did not tolerate 0.5M and 1.0M under axenic condition. This is the first report of 18S rRNA gene genotyping applied to Acanthamoeba isolated from keratitis patients in Brazil. The results also indicated that osmo-tolerance is dependent on the culture system. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Analysis and Determination of Plate Heat Exchanger's (PHE) Cooling Loadof Kartini Reactor Based on 250 kW Operation

    International Nuclear Information System (INIS)

    Suyamto; Maksum-Ischaq; Soeleman

    2000-01-01

    On behalf of increasing reactor power from 100 kW to 250 kW have beencarried out the analysis and determination of the Plate type Heat Exchanger's(PHE) cooling load. The analysis was carried out based on the present PHE'sperformances and the maximum water temperature allowed i.e T 11 = 41 o C.From the experiment where reactor operated at 100 kW for 6 hours or more atthe steady state condition was known that temperature of cooling water are :T 11 = 37 o C, T o1 = 33.71 o C, T 12 = 28.84 o C and T o2 = 29.64 o C,so that PHE's effectiveness is ε = 0.394. To analyse PHE's coolingload at 250 kW was estimated secondary input water temperature T 12 = 28.64 o C. The result shown that at reactor power level of 250 kW or 215x10 3 kcal/hr the flux mass of primary pump is 196.4 gpm which related to pumpingpower 13 Kw and the pipe diameter of 3 inch. While for secondary side : fluxmass is 254.4 gpm, pumping power 17.34 kW and the pipe diameter 4 inch. Inthis case also known that water temperature out from PHE are T o1 = 36.13 o C for primary and T o2 = 32.4 o C for secondary respectively. (author)

  15. CERN Technical Training: available Places in forthcoming Courses

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    The following course sessions are scheduled in the framework of the 2009 CERN Technical Training Programme and places are still available. You can find the full updated Technical Training course programme in our web catalogue (http://cta.cern.ch/cta2/f?p=110:9). OFFICE SOFTWARE Outlook 2007 (Short Course 1) – E-mail\t(Bilingual)\t25.05\t3 hours Outlook 2007 (Short Course II) – Calendar, Tasks and Notes (Bilingual)\t25.05\t3 hours Word 2007 (Short Course III) - Working with long documents: Styles and tables of content\t(Bilingual)\t28.05\t3 hours Indico – Meeting Organization\t(English)\t05.06\t2 hours Indico – Conference Organization\t(Français)\t05.06\t3 hours Excel 2007 (Short Course I) –HowTo…Work with formulae (Bilingual)\t11.06\t0.5 jour/day Excel 2007 (Short Course II) – HowTo…Format your worksheet for printing\t(Bilingual)\t11.06\t0.5 jour/day Excel 2007 (Short Course III) – HowTo…Pivot Tables\t(Bilingual)\t12.06\t0.5 jour/day Excel 2007 (Short Course IV) – HowTo…Link cells, worksheets and workb...

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  17. CERN Technical training: available places in forthcoming courses

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    The following course sessions are scheduled in the framework of the 2010 CERN Technical Training Programme and places are still available. You can find the full updated Technical Training course programme in our web catalogue. Software and system technologies Agile Project Management with Scrum\t11-FEB-10\t12-FEB-10\t2 days\tEnglish C++ Part 1 - Hands-On Introduction\t17-Mar-10\t19-Mar-10\t2 days\tEnglish CERN openlab/Intel Computer Architecture and Performance Tuning Workshop\t09-FEB-10\t10-FEB-10\t2 days\tEnglish Developing secure software\t22-Mar-10\t22-Mar-10\t2 days\tEnglish Emacs - way beyond Text Editing\t26-Mar-10\t26-Mar-10\t2 days\tEnglish Introduction to Databases and Database Design\t11-Mar-10\t12-Mar-10\t2 days\tEnglish ITIL Foundations (version 3)\t8-Mar-10\t10-Mar-10\t3 days\tEnglish ITIL Foundations (version 3)\t12-APR-10\t29-APR-10\t3 days\tEnglish ITIL Foundations (version 3) EXAMINATION\t25-Mar-10\t25-Mar-10\t1 hour\tEnglish JAVA 2 Enterprise Edition - Part 2: Enterprise JavaBeans\t22-Mar-10\t24-Mar-10\t3 days\tEnglish JCOP - Fi...

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  19. CERN Technical Training: available places in forthcoming courses

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    The following course sessions are scheduled in the framework of the 2009 CERN Technical Training Programme and places are still available. You can find the full updated Technical Training course programme in our web catalogue (http://cta.cern.ch/cta2/f?p=110:9). OFFICE SOFTWARE Outlook 2007 (Short Course 1) – E-mail\t(Bilingual)\t25.05\t3 hours Outlook 2007 (Short Course II) – Calendar, Tasks and Notes (Bilingual)\t25.05\t3 hours Word 2007 (Short Course III) - Working with long documents: Styles and tables of content (Bilingual)\t28.05\t3 hours Excel 2007 (Short Course I) –HowTo…Work with formulae (Bilingual)\t11.06\t0.5 jour/day Excel 2007 (Short Course II) – HowTo…Format your worksheet for printing\t(Bilingual)\t11.06\t0.5 jour/day Excel 2007 (Short Course III) – HowTo…Pivot Tables\t(Bilingual)\t12.06\t0.5 jour/day Excel 2007 (Short Course IV) – HowTo…Link cells, worksheets and workbook\t(Bilingual)\t12.06\t0.5 jour/day Word 2007 – Level 1: ECDL\t(Français)\t15-...

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  1. CERN Technical training: Available places in forthcoming courses

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    The following course sessions are scheduled in the framework of the 2011 CERN Technical Training Programme and places are still available. You can find the full updated Technical Training course programme in our web catalogue. Software and system technologies Business Objects Basic\t21-feb-11\t22-FEB-11\tEnglish\t2 days CERN openlab/Intel Computer Architecture and Performance Tuning Workshop\t08-Feb-11\t09-Feb-11\tEnglish\t2 days Introduction to Databases and Database Design\t10-Mar-11\t11-Mar-11\tEnglish\t2 days JAVA 2 Entreprise Edition - Part 2: Enterprise JavaBeans\t16-Mar-11\t18-Mar-11\tEnglish\t3 days JCOP-Joint PVSS-JCOP Framework\t14-Mar-11\t18-Mar-11\tEnglish\t4.5 days Linux LPI 101 - Introduction à Linux et LPI 102 Administration systèmes sur Linux\t8-Mar-11\t11-Mar-11\tFrançais\t4 jours ORACLE-SQL\t16-Mar-11\t18-Mar-11\tEnglish\t3 days Oracle Databases: Advanced PL/SQL Programming\t21-Mar-11\t23-Mar-11\tEnglish\t3 days Electronic design LabVIEW for beginners\t21-Mar-11\t23-Mar-11\tBilingual\t3 days/...

  2. CERN Technical training: available places in forthcoming courses

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    The following course sessions are scheduled in the framework of the 2010 CERN Technical Training Programme and places are still available. You can find the full updated Technical Training course programme in our web catalogue. Software and system technologies C++ Part 1 - Hands-On Introduction\t17-Mar-10\t19-Mar-10\t3 days\tEnglish Developing secure software\t22-Mar-10\t22-Mar-10\t0,5 day\tEnglish Emacs - way beyond Text Editing\t26-Mar-10\t26-Mar-10\t1 day\tEnglish Introduction to Databases and Database Design\t11-Mar-10\t12-Mar-10\t2 days\tEnglish ITIL Foundations (version 3)\t12-APR-10\t29-APR-10\t3 days\tEnglish ITIL Foundations (version 3) EXAMINATION\t25-Mar-10\t25-Mar-10\t1 hour\tEnglish JAVA 2 Enterprise Edition - Part 2: Enterprise JavaBeans\t22-Mar-10\t24-Mar-10\t3 days\tEnglish JCOP - Finite State Machines in the JCOP Framework\t9-Mar-10\t11-Mar-10\t3 days\tEnglish JCOP - Finite State Machines in the JCOP Framework\t27-APR-10\t29-APR-10\t3 days\tEnglish JCOP - Joint PVSS-JCOP Framework\t19-APR-10\t23-APR-10\t4,5 days\tEnglish Le Langage...

  3. Effects of feeding steers extruded flaxseed on its own before hay or mixed with hay on animal performance, carcass quality, and meat and hamburger fatty acid composition.

    Science.gov (United States)

    Vahmani, P; Rolland, D C; McAllister, T A; Block, H C; Proctor, S D; Guan, L L; Prieto, N; López-Campos, Ó; Aalhus, J L; Dugan, M E R

    2017-09-01

    The objective of the present experiment was to determine if carcass quality and fatty acid profiles of longissimus thoracis (LT) and hamburger would be affected by feeding steers extruded flaxseed on its own followed by hay (non-TMR) compared to when hay and extruded flaxseed were fed together (TMR). Forty-eight steers in six pens were assigned to TMR or non-TMR for an average of 242days. Dry matter intake was lower for non-TMR versus TMR steers (10.56 vs. 11.42kg/d; P=0.02), but final live weight (610±0.50kg) and average daily gain (1.18±0.02kg/d) did not differ. Compared to TMR, feeding non-TMR enriched LT and hamburger with α-linolenic acid (ALA; 18:3n-3) by 14%, vaccenic acid (VA; t11-18:1) by 44%, rumenic acid (RA; c9,t11-18:2) by 40%, and conjugated linolenic acid (CLnA) by 58%. Overall, feeding extruded flaxseed separately from hay in a non-TMR was more effective at enhancing deposition of ALA, VA, RA and CLnA in beef. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  4. Antiproliferative Action of Conjugated Linoleic Acid on Human MCF-7 Breast Cancer Cells Mediated by Enhancement of Gap Junctional Intercellular Communication through Inactivation of NF-κB

    Directory of Open Access Journals (Sweden)

    Md. Abdur Rakib

    2013-01-01

    Full Text Available The major conjugated linoleic acid (CLA isomers, c9,t11-CLA and t10,c12-CLA, have anticancer effects; however, the exact mechanisms underlying these effects are unknown. Evidence suggests that reversal of reduced gap junctional intercellular communication (GJIC in cancer cells inhibits cell growth and induces cell death. Hence, we determined that CLA isomers enhance GJIC in human MCF-7 breast cancer cells and investigated the underlying molecular mechanisms. The CLA isomers significantly enhanced GJIC of MCF-7 cells at 40 μM concentration, whereas CLA inhibited cell growth and induced caspase-dependent apoptosis. CLA increased connexin43 (Cx43 expression both at the transcriptional and translational levels. CLA inhibited nuclear factor-κB (NF-κB activity and enhanced reactive oxygen species (ROS generation. No significant difference was observed in the efficacy of c9,t11-CLA and t10,c12-CLA. These results suggest that the anticancer effect of CLA is associated with upregulation of GJIC mediated by enhanced Cx43 expression through inactivation of NF-κB and generation of ROS in MCF-7 cells.

  5. Phytoremediation of organochlorine and pyrethroid pesticides by aquatic macrophytes and algae in freshwater systems.

    Science.gov (United States)

    Riaz, Ghazala; Tabinda, Amtul Bari; Iqbal, Shakir; Yasar, Abdullah; Abbas, Mateen; Khan, Abdul Muqeet; Mahfooz, Yusra; Baqar, Mujtaba

    2017-10-03

    Extensive use of Pesticides in agriculture and its surface runoff in river water is a major environmental concern. The present study evaluated the phytoremediation potential of Eichornia crassipes, Pistia strateotes and algae (Chaetomorpha sutoria, Sirogonium sticticum and Zygnema sp.) for organochlorine and pyrethroid pesticides. Water and plant samples were extracted by liquid phase and solid phase extraction respectively and analyzed by high-performance liquid chromatography. Eleven treatments (T1-T11) with and without plants were used for phytoremediation of organochlorine and pyrethroid pesticides. During the experiment, P. strateotes, E. crassipes and algae (C. sutoria, S. sticticum and Zygnema sp.) showed the highest removal efficiency with 62 (71% root, 29% shoot), 60 (67% root, 33% shoot), and 58% respectively for organochlorine and 76 (76% root, 24% shoot), 68 (69% root, 31% shoot), and 70% respectively for pyrethroids for the respective aquatic plants. Dissipation rate constant of treatments with plants (T2, T3, T5, T6, T8, and T9) was significantly higher (p plants (T10 and T11, control) for both organochlorine and pyrethroid. The bioconcentration factor of pyrethroid treatments (T3, T6, and T9) was significantly higher (p < 0.05) as compared to that of organochlorine treatments (T2, T5 and T8). The removal efficiency of E. crassipes, P. strateotes and algae (C. sutoria, S. sticticum and Zygnema sp.) for pyrethroids was significantly higher (p < 0.01) as compared to that of organochlorine.

  6. Detection and Molecular Characterization of Potentially Pathogenic Free-living Amoebae from Water Sources in Kish Island, Southern Iran

    Directory of Open Access Journals (Sweden)

    Maryam Niyyati

    2015-01-01

    Full Text Available Amoebic keratitis, a sight-threatening corneal infection, mainly occurs in contact lens wearers who wash their eyes with tap water. The present research was conducted to identify the occurrence of potentially pathogenic free-living amoebae (FLA in tap water sources on Kish Island, a tourist region in Iran. Amoebae were detected using a culture-enriched method and by polymerase chain reaction (PCR/sequencing of the diagnostic fragment 3 region of the 18S rRNA gene of Acanthamoeba . In the case of other free-living amoebae species, PCR/sequencing analysis of the 18S rDNA was conducted. Results of this study showed the presence of Acanthamoeba belonging to T3, T4, T5, and T11 genotypes in tap water sources. Additionally, Vermamoebae vermiformis was detected in three water samples. This is the first report of the Acanthamoeba genotypes T3, T4, T5, and T11 and V. vermiformis species in tap water sources in a tourist region in Iran.

  7. Isolation and molecular identification of Acanthamoeba spp from oasis water in Tunisia.

    Science.gov (United States)

    Dendana, F; Trabelsi, H; Neiji, S; Sellami, H; Kammoun, S; Makni, F; Feki, J; Cheikhrouhou, F; Ayadi, A

    2018-04-01

    In the southern Tunisia Oasis, we conducted 211 water with drawals from various water traffic sites. This water is used for agriculture, swimming or various other human activities. Acanthamoeba genus was detected in 82% of collected samples. Sequencing of the amplification products with primers P892C/P892 has allowed us to detect genotypic variation with predominance of T4 genotype (51%) and presence of the genotypes T14, T5, T3, T16, T15, T10, T11, T9 and T7. They T4, T3, T5, T15, T11 and T10 genotypes have a high potential for pathogenicity and a very high degree of virulence due to their production of serine proteases and extracellular cysteine enzymes involved in tissue degradation of the host. T4 genotype was the most abundant in the environment as well as in infections caused by Acanthamoeba spp. T5 genotype was ranked second and T3 genotype was less abundant in the environment and its pathogenicity is discussed. Acanthamoeba strains with the genotypes T16, T9 and T7 were considered non pathogenic. In fact, they have been isolated only from the environment. However, for these strains, their role as a reservoir can be a real risk to human health. Copyright © 2018. Published by Elsevier Inc.

  8. Isolation and molecular characterization of Acanthamoeba genotypes isolated from soil sources of public and recreational areas in Iran.

    Science.gov (United States)

    Karamati, Seyed Ahmad; Niyyati, Maryam; Lorenzo-Morales, Jacob; Lasjerdi, Zohreh

    2016-12-01

    Pathogenic strains of Acanthamoeba are causative agents of a sight threating infection of the cornea known as Acanthamoeba keratitis. AK cases have been reported in Iran recently due to inappropriate usage of contact lens maintenance and most patients report a contact with contaminated sources such as dust, water or soil. Sixty soil samples were collected from public and recreational areas in the province of East Azerbaijan, Iran and checked for the presence of Acanthamoeba spp. Samples were cultured on non-nutrient agar plates seeded with heat killed Escherichia coli. PCR and sequencing of the DF3 region were carried out in order to genotype the isolated strains of Acanthamoeba. Thermotolerance and osmotolerance assays were performed in order to investigate the pathogenic potential of isolated Acanthamoeba strains. Acanthamoeba spp. was isolated from 41.6% of soil samples and genotyping of the strains resulted in the identification of genotypes T3, T4, T5 and T11. Most of the isolates belonging to genotypes T3 and T4 showed high pathogenic potential, indicating that they might present a potential health hazard for humans and other animals in this region. To the best of our knowledge, this is the first report on the identification of genotypes T3 and T11 from soil sources in the country.

  9. Protein profiles and immunoreactivities of Acanthamoeba morphological groups and genotypes.

    Science.gov (United States)

    Pumidonming, Wilawan; Koehsler, Martina; Leitsch, David; Walochnik, Julia

    2014-11-01

    Acanthamoeba is a free-living protozoan found in a wide variety of habitats. A classification of Acanthamoeba into currently eighteen genotypes (T1-T18) has been established, however, data on differences between genotypes on the protein level are scarce. The aim of this study was to compare protein and immunoreactivity profiles of Acanthamoeba genotypes. Thirteen strains, both clinical and non-clinical, from genotypes T4, T5, T6, T7, T9, T11 and T12, representing three morphological groups, were investigated for their protein profiles and IgG, IgM and IgA immunoreactivities. It was shown that protein and immunoreactivity profiles of Acanthamoeba genotypes T4, T5, T6, T7, T9, T11 and T12 are clearly distinct from each other, but the banding patterns correlate to the morphological groups. Normal human sera revealed anti-Acanthamoeba antibodies against isolates of all investigated genotypes, interestingly, however only very weak IgM and virtually no IgA immunoreactivity with T7 and T9, both representing morphological group I. The strongest IgG, IgM and IgA immunoreactivities were observed for genotypes T4, T5 and T6. Differences of both, protein and immunological patterns, between cytopathic and non-cytopathic strains, particularly within genotype T4, were not at the level of banding patterns, but rather in expression levels. Copyright © 2014 Elsevier Inc. All rights reserved.

  10. Feeding Unprotected CLA Methyl Esters Compared to Sunflower Seeds Increased Milk CLA Level but Inhibited Milk Fat Synthesis in Cows

    Directory of Open Access Journals (Sweden)

    F. Dohme-Meier

    2012-01-01

    Full Text Available An experiment was conducted to compare the effect of the same amount of 18:2 offered either as 18:2n-6 or as a mixture of unprotected 18:2c9t11 and 18:2t10c12 on feed intake, milk components as well as plasma and milk fatty acid profile. Fifteen cows were blocked by milk yield and milk fat percentage and within block assigned randomly to 1 of 3 treatments (n = 5. Each cow passed a 12-d adjustment period (AP on a basal diet. After the AP cows received 1 of 3 supplements during an 18-d experimental period (EP. The supplements contained either 1.0 kg ground sunflower seeds (S, 0.5 kg conjugated linoleic acid (CLA-oil (C or 0.75 kg of a mixture of ground sunflower seeds and CLA-oil (2:1; SC. All 3 supplements contained the same amount of 18:2 either as CLA (∑18:2c9t11+18:2t10c12, 1:1 or as 18:2c9c12. During the last 2 d of AP and the last 4 d of EP feed intake and milk yield were recorded daily and milk samples were collected at each milking. Blood samples were collected from the jugular vein on d 11 of AP and d 15 and 18 of EP. The 18:2 intake increased in all treatments from AP to EP. Regardless of the amount of supplemented CLA, the milk fat percentage decreased by 2.35 and 2.10%-units in treatment C and SC, respectively, whereas in the treatment S the decrease was with 0.99%-unit less pronounced. Thus, C and SC cows excreted daily a lower amount of milk fat than S cows. The concentration of trans 18:1 in the plasma and the milk increased from AP to EP and increased with increasing dietary CLA supply. While the concentration of 18:2c9t11 and 18:2t10c12 in the plasma and that of 18:2t10c12 in the milk paralleled dietary supply, the level of 18:2c9t11 in the milk was similar in C and CS but still lower in S. Although the dietary concentration of CLA was highest in treatment C, the partial replacement of CLA by sunflower seeds had a similar inhibitory effect on milk fat synthesis. Comparable 18:2c9t11 levels in the milk in both CLA treatments

  11. Effect of ShengRu mistura on the serum and milk contents of PRL in postpartum women

    International Nuclear Information System (INIS)

    Yin Yong; Tang Shanling; Yuan Chengye; Xu Zheng'an; Ni Chunmei

    2005-01-01

    Objective: To observe the effect of ShengRu mistura on the amount of the milk secreted and serum/milk contents of prolactin (PRL) in post-partum women. Methods: ShengRu mistura, a Chinese traditional formula, was administered to 100 post-partum women at the dose of 100ml q 12h on d2 through d4 after normal delivery. Serum PRL (measured 2h after delivery and on d4) and milk PRL (measured on d2 and d4) contents were measured with RIA in these women as well as in 100 controls. The amount of milk secreted on d4 was noted. Results: The amounts of milk secreted on d4 were significantly larger in women receiving ShengRu mistura than those in controls (P<0.001). The serum and milk PRL levels were also significantly higher in women treated with ShengRu mistura than those in controls (P<0.001). Conclusion: ShengRu mistura was effective in promoting milk secretion with higher prolactin levels in serum and milk. (authors)

  12. GGNBP2 acts as a tumor suppressor by inhibiting estrogen receptor α activity in breast cancer cells.

    Science.gov (United States)

    Lan, Zi-Jian; Hu, YunHui; Zhang, Sheng; Li, Xian; Zhou, Huaxin; Ding, Jixiang; Klinge, Carolyn M; Radde, Brandie N; Cooney, Austin J; Zhang, Jin; Lei, Zhenmin

    2016-07-01

    Gametogenetin-binding protein 2 (GGNBP2) is encoded in human chromosome 17q12-q23, a region known as a breast and ovarian cancer susceptibility locus. GGNBP2, also referred to ZFP403, has a single C2H2 zinc finger and a consensus LxxLL nuclear receptor-binding motif. Here, we demonstrate that GGNBP2 expression is reduced in primary human breast tumors and in breast cancer cell lines, including T47D, MCF-7, LCC9, LY2, and MDA-MB-231 compared with normal, immortalized estrogen receptor α (ERα) negative MCF-10A and MCF10F breast epithelial cells. Overexpression of GGNBP2 inhibits the proliferation of T47D and MCF-7 ERα positive breast cancer cells without affecting MCF-10A and MCF10F. Stable GGNBP2 overexpression in T47D cells inhibits 17β-estradiol (E2)-stimulated proliferation as well as migration, invasion, anchorage-independent growth in vitro, and xenograft tumor growth in mice. We further demonstrate that GGNBP2 protein physically interacts with ERα, inhibits E2-induced activation of estrogen response element-driven reporter activity, and attenuates ER target gene expression in T47D cells. In summary, our in vitro and in vivo findings suggest that GGNBP2 is a novel breast cancer tumor suppressor functioning as a nuclear receptor corepressor to inhibit ERα activity and tumorigenesis.

  13. REVA Advanced Fuel Design and Codes and Methods - Increasing Reliability, Operating Margin and Efficiency in Operation

    Energy Technology Data Exchange (ETDEWEB)

    Frichet, A.; Mollard, P.; Gentet, G.; Lippert, H. J.; Curva-Tivig, F.; Cole, S.; Garner, N.

    2014-07-01

    Since three decades, AREVA has been incrementally implementing upgrades in the BWR and PWR Fuel design and codes and methods leading to an ever greater fuel efficiency and easier licensing. For PWRs, AREVA is implementing upgraded versions of its HTP{sup T}M and AFA 3G technologies called HTP{sup T}M-I and AFA3G-I. These fuel assemblies feature improved robustness and dimensional stability through the ultimate optimization of their hold down system, the use of Q12, the AREVA advanced quaternary alloy for guide tube, the increase in their wall thickness and the stiffening of the spacer to guide tube connection. But an even bigger step forward has been achieved a s AREVA has successfully developed and introduces to the market the GAIA product which maintains the resistance to grid to rod fretting (GTRF) of the HTP{sup T}M product while providing addition al thermal-hydraulic margin and high resistance to Fuel Assembly bow. (Author)

  14. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

    Science.gov (United States)

    Lin, Zhimiao; Chen, Quan; Shi, Lei; Lee, Mingyang; Giehl, Kathrin A; Tang, Zhanli; Wang, Huijun; Zhang, Jie; Yin, Jinghua; Wu, Lingshen; Xiao, Ruo; Liu, Xuanzhu; Dai, Lanlan; Zhu, Xuejun; Li, Ruoyu; Betz, Regina C; Zhang, Xue; Yang, Yong

    2012-11-02

    Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonsense mutation (c.390C>A [p.Tyr130(∗)]) in HOXC13 in all affected individuals. In an additional affected female from a consanguineous Afghan family, we found a 27.6 kb homozygous microdeletion involving the first exon of HOXC13. We examined HOXC13 expression in scalp specimen obtained from the index individual of the Chinese family and detected dramatically reduced mRNA levels in skin tissue and nearly absent protein staining in hair follicles, suggesting a mechanism of nonsense-mediated mRNA decay. We also observed markedly decreased expression of four HOXC13 target genes in the specimen. Taken together, our results demonstrate that loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  15. Genome-wide association studies identify four ER negative–specific breast cancer risk loci

    Science.gov (United States)

    Garcia-Closas, Montserrat; Couch, Fergus J; Lindstrom, Sara; Michailidou, Kyriaki; Schmidt, Marjanka K; Brook, Mark N; orr, Nick; Rhie, Suhn Kyong; Riboli, Elio; Feigelson, Heather s; Le Marchand, Loic; Buring, Julie E; Eccles, Diana; Miron, Penelope; Fasching, Peter A; Brauch, Hiltrud; Chang-Claude, Jenny; Carpenter, Jane; Godwin, Andrew K; Nevanlinna, Heli; Giles, Graham G; Cox, Angela; Hopper, John L; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Dicks, Ed; Howat, Will J; Schoof, Nils; Bojesen, Stig E; Lambrechts, Diether; Broeks, Annegien; Andrulis, Irene L; Guénel, Pascal; Burwinkel, Barbara; Sawyer, Elinor J; Hollestelle, Antoinette; Fletcher, Olivia; Winqvist, Robert; Brenner, Hermann; Mannermaa, Arto; Hamann, Ute; Meindl, Alfons; Lindblom, Annika; Zheng, Wei; Devillee, Peter; Goldberg, Mark S; Lubinski, Jan; Kristensen, Vessela; Swerdlow, Anthony; Anton-Culver, Hoda; Dörk, Thilo; Muir, Kenneth; Matsuo, Keitaro; Wu, Anna H; Radice, Paolo; Teo, Soo Hwang; Shu, Xiao-Ou; Blot, William; Kang, Daehee; Hartman, Mikael; Sangrajrang, Suleeporn; Shen, Chen-Yang; Southey, Melissa C; Park, Daniel J; Hammet, Fleur; Stone, Jennifer; Veer, Laura J Van’t; Rutgers, Emiel J; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Peto, Julian; Schrauder, Michael G; Ekici, Arif B; Beckmann, Matthias W; Silva, Isabel dos Santos; Johnson, Nichola; Warren, Helen; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Marme, Federick; Schneeweiss, Andreas; Sohn, Christof; Truong, Therese; Laurent-Puig, Pierre; Kerbrat, Pierre; Nordestgaard, Børge G; Nielsen, Sune F; Flyger, Henrik; Milne, Roger L; Perez, Jose Ignacio Arias; Menéndez, Primitiva; Müller, Heiko; Arndt, Volker; Stegmaier, Christa; Lichtner, Peter; Lochmann, Magdalena; Justenhoven, Christina; Ko, Yon-Dschun; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Greco, Dario; Heikkinen, Tuomas; Ito, Hidemi; Iwata, Hiroji; Yatabe, Yasushi; Antonenkova, Natalia N; Margolin, Sara; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Balleine, Rosemary; Tseng, Chiu-Chen; Van Den Berg, David; Stram, Daniel O; Neven, Patrick; Dieudonné, Anne-Sophie; Leunen, Karin; Rudolph, Anja; Nickels, Stefan; Flesch-Janys, Dieter; Peterlongo, Paolo; Peissel, Bernard; Bernard, Loris; Olson, Janet E; Wang, Xianshu; Stevens, Kristen; Severi, Gianluca; Baglietto, Laura; Mclean, Catriona; Coetzee, Gerhard A; Feng, Ye; Henderson, Brian E; Schumacher, Fredrick; Bogdanova, Natalia V; Labrèche, France; Dumont, Martine; Yip, Cheng Har; Taib, Nur Aishah Mohd; Cheng, Ching-Yu; Shrubsole, Martha; Long, Jirong; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Kauppila, Saila; knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Tollenaar, Robertus A E M; Seynaeve, Caroline M; Kriege, Mieke; Hooning, Maartje J; Van den Ouweland, Ans M W; Van Deurzen, Carolien H M; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Balasubramanian, Sabapathy P; Cross, Simon S; Reed, Malcolm W R; Signorello, Lisa; Cai, Qiuyin; Shah, Mitul; Miao, Hui; Chan, Ching Wan; Chia, Kee Seng; Jakubowska, Anna; Jaworska, Katarzyna; Durda, Katarzyna; Hsiung, Chia-Ni; Wu, Pei-Ei; Yu, Jyh-Cherng; Ashworth, Alan; Jones, Michael; Tessier, Daniel C; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Vincent, Daniel; Bacot, Francois; Ambrosone, Christine B; Bandera, Elisa V; John, Esther M; Chen, Gary K; Hu, Jennifer J; Rodriguez-gil, Jorge L; Bernstein, Leslie; Press, Michael F; Ziegler, Regina G; Millikan, Robert M; Deming-Halverson, Sandra L; Nyante, Sarah; Ingles, Sue A; Waisfisz, Quinten; Tsimiklis, Helen; Makalic, Enes; Schmidt, Daniel; Bui, Minh; Gibson, Lorna; Müller-Myhsok, Bertram; Schmutzler, Rita K; Hein, Rebecca; Dahmen, Norbert; Beckmann, Lars; Aaltonen, Kirsimari; Czene, Kamila; Irwanto, Astrid; Liu, Jianjun; Turnbull, Clare; Rahman, Nazneen; Meijers-Heijboer, Hanne; Uitterlinden, Andre G; Rivadeneira, Fernando; Olswold, Curtis; Slager, Susan; Pilarski, Robert; Ademuyiwa, Foluso; Konstantopoulou, Irene; Martin, Nicholas G; Montgomery, Grant W; Slamon, Dennis J; Rauh, Claudia; Lux, Michael P; Jud, Sebastian M; Bruning, Thomas; Weaver, Joellen; Sharma, Priyanka; Pathak, Harsh; Tapper, Will; Gerty, Sue; Durcan, Lorraine; Trichopoulos, Dimitrios; Tumino, Rosario; Peeters, Petra H; Kaaks, Rudolf; Campa, Daniele; Canzian, Federico; Weiderpass, Elisabete; Johansson, Mattias; Khaw, Kay-Tee; Travis, Ruth; Clavel-Chapelon, Françoise; Kolonel, Laurence N; Chen, Constance; Beck, Andy; Hankinson, Susan E; Berg, Christine D; Hoover, Robert N; Lissowska, Jolanta; Figueroa, Jonine D; Chasman, Daniel I; Gaudet, Mia M; Diver, W Ryan; Willett, Walter C; Hunter, David J; Simard, Jacques; Benitez, Javier; Dunning, Alison M; Sherman, Mark E; Chenevix-Trench, Georgia; Chanock, Stephen J; Hall, Per; Pharoah, Paul D P; Vachon, Celine; Easton, Douglas F; Haiman, Christopher A; Kraft, Peter

    2013-01-01

    Estrogen receptor (ER)-negative tumors represent 20–30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry1. The etiology2 and clinical behavior3 of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition4. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10−12 and LGR6, P = 1.4 × 10−8), 2p24.1 (P = 4.6 × 10−8) and 16q12.2 (FTO, P = 4.0 × 10−8), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers. PMID:23535733

  16. Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

    Science.gov (United States)

    Garcia-Closas, Montserrat; Couch, Fergus J; Lindstrom, Sara; Michailidou, Kyriaki; Schmidt, Marjanka K; Brook, Mark N; Orr, Nick; Rhie, Suhn Kyong; Riboli, Elio; Feigelson, Heather S; Le Marchand, Loic; Buring, Julie E; Eccles, Diana; Miron, Penelope; Fasching, Peter A; Brauch, Hiltrud; Chang-Claude, Jenny; Carpenter, Jane; Godwin, Andrew K; Nevanlinna, Heli; Giles, Graham G; Cox, Angela; Hopper, John L; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Dicks, Ed; Howat, Will J; Schoof, Nils; Bojesen, Stig E; Lambrechts, Diether; Broeks, Annegien; Andrulis, Irene L; Guénel, Pascal; Burwinkel, Barbara; Sawyer, Elinor J; Hollestelle, Antoinette; Fletcher, Olivia; Winqvist, Robert; Brenner, Hermann; Mannermaa, Arto; Hamann, Ute; Meindl, Alfons; Lindblom, Annika; Zheng, Wei; Devillee, Peter; Goldberg, Mark S; Lubinski, Jan; Kristensen, Vessela; Swerdlow, Anthony; Anton-Culver, Hoda; Dörk, Thilo; Muir, Kenneth; Matsuo, Keitaro; Wu, Anna H; Radice, Paolo; Teo, Soo Hwang; Shu, Xiao-Ou; Blot, William; Kang, Daehee; Hartman, Mikael; Sangrajrang, Suleeporn; Shen, Chen-Yang; Southey, Melissa C; Park, Daniel J; Hammet, Fleur; Stone, Jennifer; Veer, Laura J Van't; Rutgers, Emiel J; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Peto, Julian; Schrauder, Michael G; Ekici, Arif B; Beckmann, Matthias W; Dos Santos Silva, Isabel; Johnson, Nichola; Warren, Helen; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Marme, Federick; Schneeweiss, Andreas; Sohn, Christof; Truong, Therese; Laurent-Puig, Pierre; Kerbrat, Pierre; Nordestgaard, Børge G; Nielsen, Sune F; Flyger, Henrik; Milne, Roger L; Perez, Jose Ignacio Arias; Menéndez, Primitiva; Müller, Heiko; Arndt, Volker; Stegmaier, Christa; Lichtner, Peter; Lochmann, Magdalena; Justenhoven, Christina; Ko, Yon-Dschun; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Greco, Dario; Heikkinen, Tuomas; Ito, Hidemi; Iwata, Hiroji; Yatabe, Yasushi; Antonenkova, Natalia N; Margolin, Sara; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Balleine, Rosemary; Tseng, Chiu-Chen; Berg, David Van Den; Stram, Daniel O; Neven, Patrick; Dieudonné, Anne-Sophie; Leunen, Karin; Rudolph, Anja; Nickels, Stefan; Flesch-Janys, Dieter; Peterlongo, Paolo; Peissel, Bernard; Bernard, Loris; Olson, Janet E; Wang, Xianshu; Stevens, Kristen; Severi, Gianluca; Baglietto, Laura; McLean, Catriona; Coetzee, Gerhard A; Feng, Ye; Henderson, Brian E; Schumacher, Fredrick; Bogdanova, Natalia V; Labrèche, France; Dumont, Martine; Yip, Cheng Har; Taib, Nur Aishah Mohd; Cheng, Ching-Yu; Shrubsole, Martha; Long, Jirong; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Kauppila, Saila; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Tollenaar, Robertus A E M; Seynaeve, Caroline M; Kriege, Mieke; Hooning, Maartje J; van den Ouweland, Ans M W; van Deurzen, Carolien H M; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Balasubramanian, Sabapathy P; Cross, Simon S; Reed, Malcolm W R; Signorello, Lisa; Cai, Qiuyin; Shah, Mitul; Miao, Hui; Chan, Ching Wan; Chia, Kee Seng; Jakubowska, Anna; Jaworska, Katarzyna; Durda, Katarzyna; Hsiung, Chia-Ni; Wu, Pei-Ei; Yu, Jyh-Cherng; Ashworth, Alan; Jones, Michael; Tessier, Daniel C; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Vincent, Daniel; Bacot, Francois; Ambrosone, Christine B; Bandera, Elisa V; John, Esther M; Chen, Gary K; Hu, Jennifer J; Rodriguez-Gil, Jorge L; Bernstein, Leslie; Press, Michael F; Ziegler, Regina G; Millikan, Robert M; Deming-Halverson, Sandra L; Nyante, Sarah; Ingles, Sue A; Waisfisz, Quinten; Tsimiklis, Helen; Makalic, Enes; Schmidt, Daniel; Bui, Minh; Gibson, Lorna; Müller-Myhsok, Bertram; Schmutzler, Rita K; Hein, Rebecca; Dahmen, Norbert; Beckmann, Lars; Aaltonen, Kirsimari; Czene, Kamila; Irwanto, Astrid; Liu, Jianjun; Turnbull, Clare; Rahman, Nazneen; Meijers-Heijboer, Hanne; Uitterlinden, Andre G; Rivadeneira, Fernando; Olswold, Curtis; Slager, Susan; Pilarski, Robert; Ademuyiwa, Foluso; Konstantopoulou, Irene; Martin, Nicholas G; Montgomery, Grant W; Slamon, Dennis J; Rauh, Claudia; Lux, Michael P; Jud, Sebastian M; Bruning, Thomas; Weaver, Joellen; Sharma, Priyanka; Pathak, Harsh; Tapper, Will; Gerty, Sue; Durcan, Lorraine; Trichopoulos, Dimitrios; Tumino, Rosario; Peeters, Petra H; Kaaks, Rudolf; Campa, Daniele; Canzian, Federico; Weiderpass, Elisabete; Johansson, Mattias; Khaw, Kay-Tee; Travis, Ruth; Clavel-Chapelon, Françoise; Kolonel, Laurence N; Chen, Constance; Beck, Andy; Hankinson, Susan E; Berg, Christine D; Hoover, Robert N; Lissowska, Jolanta; Figueroa, Jonine D; Chasman, Daniel I; Gaudet, Mia M; Diver, W Ryan; Willett, Walter C; Hunter, David J; Simard, Jacques; Benitez, Javier; Dunning, Alison M; Sherman, Mark E; Chenevix-Trench, Georgia; Chanock, Stephen J; Hall, Per; Pharoah, Paul D P; Vachon, Celine; Easton, Douglas F; Haiman, Christopher A; Kraft, Peter

    2013-04-01

    Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10(-12) and LGR6, P = 1.4 × 10(-8)), 2p24.1 (P = 4.6 × 10(-8)) and 16q12.2 (FTO, P = 4.0 × 10(-8)), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.

  17. Identification of candidate genes for dyslexia susceptibility on chromosome 18.

    Directory of Open Access Journals (Sweden)

    Thomas S Scerri

    2010-10-01

    Full Text Available Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage. Here, we set out to identify the gene(s conferring susceptibility by a two stage strategy of linkage and association analysis.Linkage analysis: 264 UK families and 155 US families each containing at least one child diagnosed with dyslexia were genotyped with a dense set of microsatellite markers on chromosome 18. Association analysis: Using a discovery sample of 187 UK families, nearly 3000 SNPs were genotyped across the chromosome 18 dyslexia susceptibility candidate region. Following association analysis, the top ranking SNPs were then genotyped in the remaining samples. The linkage analysis revealed a broad signal that spans approximately 40 Mb from 18p11.2 to 18q12.2. Following the association analysis and subsequent replication attempts, we observed consistent association with the same SNPs in three genes; melanocortin 5 receptor (MC5R, dymeclin (DYM and neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L.Along with already published biological evidence, MC5R, DYM and NEDD4L make attractive candidates for dyslexia susceptibility genes. However, further replication and functional studies are still required.

  18. Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9.

    Science.gov (United States)

    Gürel, Sebahat Atar

    2015-04-01

    Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Prenatal diagnosis of congenital hallux varus is presented herein. A 32-year-old woman was referred to our unit due to significant deviation of the fetal right great toe at 22(+2) weeks of pregnancy. Ultrasound examination revealed a thick and short great toe, which was significantly angulated medially on the right side. Amniocentesis was performed and the result was reported as inv(9) (p11;q12). After delivery, the clinical examination confirmed the prenatal diagnosis. To our knowledge, this is the first reported prenatal diagnosis of an isolated congenital hallux varus. Congenital hallux varus can be diagnosed easily in the prenatal period by 2-D and 4-D ultrasonography. Prenatal karyotyping should be taken into consideration, especially in the presence of associated anomalies, such as polydactyly and clubfoot. © 2014 The Author. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

  19. Genetic heterogeneity in supratentorial and infratentorial primitive neuroectodermal tumours of the central nervous system.

    Science.gov (United States)

    Inda, M M; Perot, C; Guillaud-Bataille, M; Danglot, G; Rey, J A; Bello, M J; Fan, X; Eberhart, C; Zazpe, I; Portillo, E; Tuñón, T; Martínez-Peñuela, J M; Bernheim, A; Castresana, J S

    2005-12-01

    Medulloblastoma (MB), a kind of infratentorial primitive neuroectodermal tumour (PNET), is the most frequent malignant brain tumour in childhood. In contrast, supratentorial PNET (sPNET) are very infrequent tumours, but they are histologically similar to MB, although they present a worse clinical outcome. We investigated the differences in genetic abnormalities between sPNET and MB. We analysed 20 central PNET (14 MB and six sPNET) by conventional comparative genomic hybridization (CGH) in order to determine whether a different genetic profile for each tumour exists. Isochromosome 17q was detected in four of the 14 MB cases, but not in any sPNET. Gains at 17q and 7 happened more frequently in MB, and those at 1q in sPNET. Losses at chromosome 10 were detected only in MB, while losses at 16p and 19p happened more frequently in sPNET. A new amplification site, on 4q12, was detected in two MB. Central PNET are a heterogeneous group of tumours from the genetic point of view. The present and previous data, together with further results from larger series, might contribute to the establishment of specific treatments for supratentorial and infratentorial PNET.

  20. A novel representation of inter-site tumour heterogeneity from pre-treatment computed tomography textures classifies ovarian cancers by clinical outcome

    Energy Technology Data Exchange (ETDEWEB)

    Vargas, Hebert Alberto; Micco, Maura; Lakhman, Yulia; Meier, Andreas A.; Sosa, Ramon; Hricak, Hedvig; Sala, Evis [Memorial Sloan Kettering Cancer Center, Department of Radiology, New York, NY (United States); Veeraraghavan, Harini; Deasy, Joseph [Memorial Sloan Kettering Cancer Center, Department of Medical Physics, New York, NY (United States); Nougaret, Stephanie [Memorial Sloan Kettering Cancer Center, Department of Radiology, New York, NY (United States); Service de Radiologie, Institut Regional du Cancer de Montpellier, Montpellier (France); INSERM, U1194, Institut de Recherche en Cancerologie de Montpellier (IRCM), Montpellier (France); Soslow, Robert A.; Weigelt, Britta [Memorial Sloan Kettering Cancer Center, Department of Pathology, New York, NY (United States); Levine, Douglas A. [Memorial Sloan Kettering Cancer Center, Department of Surgery, New York, NY (United States); Aghajanian, Carol; Snyder, Alexandra [Memorial Sloan Kettering Cancer Center, Department of Medicine, New York, NY (United States)

    2017-09-15

    To evaluate the associations between clinical outcomes and radiomics-derived inter-site spatial heterogeneity metrics across multiple metastatic lesions on CT in patients with high-grade serous ovarian cancer (HGSOC). IRB-approved retrospective study of 38 HGSOC patients. All sites of suspected HGSOC involvement on preoperative CT were manually segmented. Gray-level correlation matrix-based textures were computed from each tumour site, and grouped into five clusters using a Gaussian Mixture Model. Pairwise inter-site similarities were computed, generating an inter-site similarity matrix (ISM). Inter-site texture heterogeneity metrics were computed from the ISM and compared to clinical outcomes. Of the 12 inter-site texture heterogeneity metrics evaluated, those capturing the differences in texture similarities across sites were associated with shorter overall survival (inter-site similarity entropy, similarity level cluster shade, and inter-site similarity level cluster prominence; p ≤ 0.05) and incomplete surgical resection (similarity level cluster shade, inter-site similarity level cluster prominence and inter-site cluster variance; p ≤ 0.05). Neither the total number of disease sites per patient nor the overall tumour volume per patient was associated with overall survival. Amplification of 19q12 involving cyclin E1 gene (CCNE1) predominantly occurred in patients with more heterogeneous inter-site textures. Quantitative metrics non-invasively capturing spatial inter-site heterogeneity may predict outcomes in patients with HGSOC. (orig.)