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Sample records for submicroscopic chromosomal imbalances

  1. Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease.

    Science.gov (United States)

    Gal, A; Wieringa, B; Smeets, D F; Bleeker-Wagemakers, L; Ropers, H H

    1986-01-01

    Norrie disease (ND), an X-linked recessive disorder, is characterized by congenital blindness followed by bulbar atrophy. We have examined a three-generation family in which ND is part of a complex X-linked syndrome with severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections as additional features. This syndrome is apparently due to an interstitial deletion, as evidenced by the failure of the L1.28 DNA probe (DXS7 locus, Xp11.3) to detect complementary DNA sequences on the defective X chromosome of an affected male and of several obligatory heterozygotes. Attempts to further define this deletion with other DNA probes from the proximal short arm of the X chromosome or by prometaphase chromosome analysis were unsuccessful.

  2. Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report.

    Science.gov (United States)

    Joy, J E; Poglod, R; Murphy, D L; Sims, K B; de la Chapelle, A; Sankila, E M; Norio, R; Merril, C R

    1991-01-01

    Norrie disease is an X-linked recessive disorder characterized by congenital blindness and, in many cases, mental retardation. Some Norrie disease cases have been shown to be associated with a submicroscopic deletion in chromosomal region Xp11.3. Cerebrospinal fluid (CSF) was collected from four male patients with an X-chromosomal deletion associated with Norrie disease. CSF proteins were resolved using two-dimensional gel electrophoresis and then analyzed by computer using the Elsie V program. Our analysis revealed a protein that appears to be altered in patients with Norrie disease deletion.

  3. A Rare Chromosome 3 Imbalance and Its Clinical Implications

    Directory of Open Access Journals (Sweden)

    Karen Sims

    2012-01-01

    Full Text Available The duplication of chromosome 3q is a rare disorder with varying chromosomal breakpoints and consequently symptoms. Even rarer is the unbalanced outcome from a parental inv(3 resulting in duplicated 3q and a deletion of 3p. Molecular karyotyping should aid in precisely determining the length and breakpoints of the 3q+/3p− so as to better understand a child’s future development and needs. We report a case of an infant male with a 57.5 Mb duplication from 3q23-qter. This patient also has an accompanying 1.7 Mb deletion of 3p26.3. The duplicated segment in this patient encompasses the known critical region of 3q26.3-q27, which is implicated in the previously reported 3q dup syndrome; however, the accompanying 3p26.3 deletion is smaller than the previously reported cases. The clinical phenotype of this patient relates to previously reported cases of 3q+ that may suggest that the accompanying 1.7 Mb heterozygous deletion is not clinically relevant. Taken together, our data has refined the location and extent of the chromosome 3 imbalance, which will aid in better understanding the molecular underpinning of the 3q syndrome.

  4. Molecular dissection of a contiguous gene syndrome: Frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated island in the Miller-Dieker chromosome region

    International Nuclear Information System (INIS)

    Ledbetter, D.H.; Ledbetter, S.A.; vanTuinen, P.

    1989-01-01

    The Miller-Dieker syndrome (MDS), composed of characteristic facial abnormalities and a severe neuronal migration disorder affecting the cerebral cortex, is caused by visible or submicroscopic deletions of chromosome band 17p13. Twelve anonymous DNA markers were tested against a panel of somatic cell hybrids containing 17p deletions from seven MDS patients. All patients, including three with normal karyotypes, are deleted for a variable set of 5-12 markers. Two highly polymorphic VNTR (variable number of tandem repeats) probes, YNZ22 and YNH37, are codeleted in all patients tested and make molecular diagnosis for this disorder feasible. By pulsed-field gel electrophoresis, YNZ22 and YNH37 were shown to be within 30 kilobases (kb) of each other. Cosmid clones containing both VNTR sequences were identified, and restriction mapping showed them to be 100 kb were completely deleted in all patients, providing a minimum estimate of the size of the MDS critical region. A hypomethylated island and evolutionarily conserved sequences were identified within this 100-kb region, indications of the presence of one or more expressed sequences potentially involved in the pathophysiology of this disorder. The conserved sequences were mapped to mouse chromosome 11 by using mouse-rat somatic cell hybrids, extending the remarkable homology between human chromosome 17 and mouse chromosome 11 by 30 centimorgans, into the 17p telomere region

  5. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation

    International Nuclear Information System (INIS)

    Nussbaum, R.L.; Lesko, J.G.; Lewis, R.A.; Ledbetter, S.A.; Ledbetter, D.H.

    1987-01-01

    Choroideremia, an X-chromosome linked retinal dystrophy of unknown pathogenesis, causes progressive nightblindness and eventual central blindness in affected males by the third to fourth decade of life. Choroideremia has been mapped to Xq13-21 by tight linkage to restriction fragment length polymorphism loci. The authors have recently identified two families in which choroideremia is inherited with mental retardation and deafness. In family XL-62, an interstitial deletion Xq21 is visible by cytogenetic analysis and two linked anonymous DNA markers, DXYS1 and DXS72, are deleted. In the second family, XL-45, an interstitial deletion was suspected on phenotypic grounds but could not be confirmed by high-resolution cytogenetic analysis. They used phenol-enhanced reassociation of 48,XXXX DNA in competition with excess XL-45 DNA to generate a library of cloned DNA enriched for sequences that might be deleted in XL-45. Two of the first 83 sequences characterized from the library were found to be deleted in probands from family XL-45 as well as from family XL-62. Isolation of these sequences proves that XL-45 does contain a submicroscopic deletion and provides a starting point for identifying overlapping genomic sequences that span the XL-45 deletion. Each overlapping sequence will be studied to identify exons from the choroideremia locus

  6. Norrie disease as part of a complex syndrome explained by a submicroscopic deletion of the X chromosome.

    Science.gov (United States)

    Bleeker-Wagemakers, E M; Zweije-Hofman, I; Gal, A

    1988-11-01

    A 15-year-old male patient with the typical ocular symptoms of Norrie disease is described. Additionally, he presents severe mental retardation, growth disturbances, hypogonadism, and increased susceptibility to infections. This complex syndrome is apparently segregating through three generations: four other male relatives of the patient were blind from birth and died from recurrent infections between the ages of three to 15 months. The DNA sequence of the DXS7 locus (L1.28 probe), known to be closely linked to the Norrie gene, was not found in the patient's DNA. This result suggests that the more complex clinical picture seen is the result of a deletion of the X chromosome spanning DXS7, the Norrie gene, and several neighbouring loci. A detailed clinical description of the patient is given and compared to that of similar cases.

  7. Genomic imbalances in 5918 malignant epithelial tumors: an explorative meta-analysis of chromosomal CGH data

    International Nuclear Information System (INIS)

    Baudis, Michael

    2007-01-01

    Chromosomal abnormalities have been associated with most human malignancies, with gains and losses on some genomic regions associated with particular entities. Of the 15429 cases collected for the Progenetix molecular-cytogenetic database, 5918 malignant epithelial neoplasias analyzed by chromosomal Comparative Genomic Hybridization (CGH) were selected for further evaluation. For the 22 clinico-pathological entities with more than 50 cases, summary profiles for genomic imbalances were generated from case specific data and analyzed. With large variation in overall genomic instability, recurring genomic gains and losses were prominent. Most entities showed frequent gains involving 8q2, while gains on 20q, 1q, 3q, 5p, 7q and 17q were frequent in different entities. Loss 'hot spots' included 3p, 4q, 13q, 17p and 18q among others. Related average imbalance patterns were found for clinically distinct entities, e.g. hepatocellular carcinomas (ca.) and ductal breast ca., as well as for histologically related entities (squamous cell ca. of different sites). Although considerable case-by-case variation of genomic profiles can be found by CGH in epithelial malignancies, a limited set of variously combined chromosomal imbalances may be typical for carcinogenesis. Focus on the respective regions should aid in target gene detection and pathway deduction

  8. Chromosomal imbalances in four new uterine cervix carcinoma derived cell lines

    International Nuclear Information System (INIS)

    Hidalgo, Alfredo; Monroy, Alberto; Arana, Rosa Ma; Taja, Lucía; Vázquez, Guelaguetza; Salcedo, Mauricio

    2003-01-01

    Uterine cervix carcinoma is the second most common female malignancy worldwide and a major health problem in Mexico, representing the primary cause of death among the Mexican female population. High risk human papillomavirus (HPV) infection is considered to be the most important risk factor for the development of this tumor and cervical carcinoma derived cell lines are very useful models for the study of viral carcinogenesis. Comparative Genomic Hybridization (CGH) experiments have detected a specific pattern of chromosomal imbalances during cervical cancer progression, indicating chromosomal regions that might contain genes that are important for cervical transformation. We performed HPV detection and CGH analysis in order to initiate the genomic characterization of four recently established cervical carcinoma derived cell lines from Mexican patients. All the cell lines were HPV18 positive. The most prevalent imbalances in the cell lines were gains in chromosomes 1q23-q32, 3q11.2-q13.1, 3q22-q26.1, 5p15.1-p11.2, this alteration present as a high copy number amplification in three of the cell lines, 7p15-p13, 7q21, 7q31, 11q21, and 12q12, and losses in 2q35-qter, 4p16, 6q26-qter, 9q34 and 19q13.2-qter. Analysis of our present findings and previously reported data suggest that gains at 1q31-q32 and 7p13-p14, as well as losses at 6q26-q27 are alterations that might be unique for HPV18 positive cases. These chromosomal regions, as well as regions with high copy number amplifications, coincide with known fragile sites and known HPV integration sites. The general pattern of chromosomal imbalances detected in the cells resembled that found in invasive cervical tumors, suggesting that the cells represent good models for the study of cervical carcinoma

  9. Assessment of chromosomal imbalances in CIMP-high and CIMP-low/CIMP-0 colorectal cancers.

    Science.gov (United States)

    Kozlowska, Joanna; Karpinski, Pawel; Szmida, Elzbieta; Laczmanska, Izabela; Misiak, Blazej; Ramsey, David; Bebenek, Marek; Kielan, Wojciech; Pesz, Karolina A; Sasiadek, Maria M

    2012-08-01

    Data presented in a number of recent studies have revealed a negative correlation between CpG island methylator phenotype (CIMP) and chromosomal instability (CIN) measured by a loss of heterozygosity (LOH) of selected loci, suggesting that CIN and CIMP represent two independent mechanisms in sporadic colorectal cancer (CRC) carcinogenesis. However, CIN is a heterogeneous phenomenon, which may be studied not only by employing LOH analysis but also by observing chromosomal imbalances (gains and deletions). The current study aimed to investigate the relationship between CIMP and chromosomal gains and deletions (assessed by comparative genomic hybridization) in a group of 20 CIMP-high and 79 CIMP-low/CIMP-0 CRCs. Our results revealed that the mean numbers of gains and of total chromosomal imbalances were significantly greater (p = 0.004 and p = 0.007, respectively) in the CIMP-low/CIMP-0 group compared to the CIMP-high group, while no significant difference was observed between the mean numbers of losses (p = 0.056). The analysis of copy number changes of 41 cancer-related genes by multiplex ligation-dependent probe amplification showed that CRK gene was exclusively deleted in CIMP-low/CIMP-0 tumors (p = 0.02). Given that chromosomal losses play an important role in tumor suppressor inactivation and chromosomal gains, in the activation of proto-oncogenes, we hypothesize that tumor suppressor inactivation plays similar roles in both CIMP-high and CIMP-low/CIMP-0 CRCs, while the predominance of chromosomal gains in CIMP-low/CIMP-0 tumors may suggest that the activation of proto-oncogenes is the underlying mechanism of CIMP-low/CIMP-0 CRC progression.

  10. Allelic imbalance on chromosome 1 in human breast cancer. I. Minisatellite and RFLP analysis.

    Science.gov (United States)

    Loupart, M L; Armour, J; Walker, R; Adams, S; Brammar, W; Varley, J

    1995-01-01

    In order to characterise the role of chromosome 1 more fully in breast cancer, polymorphic markers mapping along the length of the whole chromosome were used to assess a panel of 71 tumour-lymphocyte pairs for allelic imbalance. Complex patterns of alterations were established that are consistent with cytogenetic data in the literature. Deletion mapping of individuals with loss of heterozygosity identified five independent smallest common regions of deletion, two of which are novel. There are also three discrete regions showing a gain in copy number of one homologue. The two arms of the chromosome may be subject to different events; the short arm primarily undergoes interstitial deletions, whereas the long arm is subject to whole arm events (as both gains and losses) as well as regional deletions.

  11. Chromosomal imbalance in the progression of high-risk non-muscle invasive bladder cancer

    International Nuclear Information System (INIS)

    Zieger, Karsten; Wiuf, Carsten; Jensen, Klaus Møller-Ernst; Ørntoft, Torben Falck; Dyrskjøt, Lars

    2009-01-01

    Non-muscle invasive bladder neoplasms with invasion of the lamina propria (stage T1) or high grade of dysplasia are at 'high risk' of progression to life-threatening cancer. However, the individual course is difficult to predict. Chromosomal instability (CI) is associated with high tumor stage and grade, and possibly with the risk of progression. To investigate the relationship between CI and subsequent disease progression, we performed a case-control-study of 125 patients with 'high-risk' non-muscle invasive bladder neoplasms, 67 with later disease progression, and 58 with no progression. Selection criteria were conservative (non-radical) resections and full prospective clinical follow-up (> 5 years). We investigated primary lesions in 59, and recurrent lesions in 66 cases. We used Affymetrix GeneChip ® Mapping 10 K and 50 K SNP microarrays to evaluate genome wide chromosomal imbalance (loss-of-heterozygosity and DNA copy number changes) in 48 representative tumors. DNA copy number changes of 15 key instability regions were further investigated using QPCR in 101 tumors (including 25 tumors also analysed on 50 K SNP microarrays). Chromosomal instability did not predict any higher risk of subsequent progression. Stage T1 and high-grade tumors had generally more unstable genomes than tumors of lower stage and grade (mostly non-primary tumors following a 'high-risk' tumor). However, about 25% of the 'high-risk' tumors had very few alterations. This was independent of subsequent progression. Recurrent lesions represent underlying field disease. A separate analysis of these lesions did neither reflect any difference in the risk of progression. Of specific chromosomal alterations, a possible association between loss of chromosome 8p11 and the risk of progression was found. However, the predictive value was limited by the heterogeneity of the changes. Chromosomal instability (CI) was associated with 'high risk' tumors

  12. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

    DEFF Research Database (Denmark)

    Sogaard, Marie; Tümer, Zeynep; Hjalgrim, Helle

    2005-01-01

    BACKGROUND: Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for subtelomeric rearrangements are commercially available,...... dysmorphic features. Five had imbalances leading to recognizable phenotypes. CONCLUSION: Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause....

  13. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.

    NARCIS (Netherlands)

    Kousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H.; Remm, M.; Turner, G.; Boyle, J.; Bokhoven, J.H.L.M. van; Brouwer, A.; Esch, H. van; Froyen, G.; Ropers, H.H.; Chelly, J.; Moraine, C.; Gecz, J.; Kurg, A.; Patsalis, P.C.

    2007-01-01

    The rapid advancement of high-resolution DNA copy number assessment methods revealed the significant contribution of submicroscopic genetic imbalances to abnormal phenotypes, including mental retardation. In order to detect submicroscopic genetic imbalances, we have screened 20 families with

  14. Large Clinically Consequential Imbalances Detected at the Breakpoints of Apparently Balanced and Inherited Chromosome Rearrangements

    OpenAIRE

    South, Sarah T.; Rector, Lyndsey; Aston, Emily; Rowe, Leslie; Yang, Samuel P.

    2010-01-01

    When a chromosome abnormality is identified in a child with a developmental delay and/or multiple congenital anomalies and the chromosome rearrangement appears balanced, follow-up studies often examine both parents for this rearrangement. If either clinically unaffected parent has a chromosome abnormality with a banding pattern identical to the affected child's study, then it is assumed that the chromosome rearrangement is balanced and directly inherited from the normal carrier parent. It is ...

  15. Recurrent RECQL4 Imbalance and Increased Gene Expression Levels Are Associated with Structural Chromosomal Instability in Sporadic Osteosarcoma

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    Georges Maire

    2009-03-01

    Full Text Available Osteosarcoma (OS is an aggressive bone tumor with complex abnormal karyotypes and a highly unstable genome, exhibiting both numerical- and structural-chromosomal instability (N- and S-CIN. Chromosomal rearrangements and genomic imbalances affecting 8q24 are frequent in OS. RECQL4 gene maps to this cytoband and encodes a putative helicase involved in the fidelity of DNA replication and repair. This protective genomic function of the protein is relevant because often patients with Rothmund-Thomson syndrome have constitutional mutations of RECQL4 and carry a very high risk of developing OS. To determine the relative level of expression of RECQL4 in OS, 18 sporadic tumors were studied by reverse transcription–polymerase chain reaction. All tumors overexpressed RECQL4 in comparison to control osteoblasts, and fluorescence in situ hybridization analysis of tumor DNA showed that expression levels were strongly copy number–dependent. Relative N- and S-CIN levels were determined by classifying copy number transitions within array comparative genomic hybridization profiles and by enumerating the frequency of break-apart fluorescence in situ hybridization within 8q24 using region-specific and control probes. Although there was no evidence that disruption of 8q24 in OS led to an elevated expression of RECQL4, there was a marked association between increased overall levels of S-CIN, determined by copy number transition frequency and higher levels of RECQL4.

  16. Array-CGH detection of three cryptic submicroscopic imbalances in ...

    Indian Academy of Sciences (India)

    2The Second Clinical Medical College (Shenzhen People's Hospital), Jinan University, Guangdong Province. 518020, People's Republic of China ... Here, we describe a phenotypically normal prenatal case who was found to carry an apparently balanced .... Precise definitions of CCRs and their real complexity can only be ...

  17. Synchronous clear cell renal cell carcinoma and tubulocystic carcinoma: genetic evidence of independent ontogenesis and implications of chromosomal imbalances in tumor progression

    Directory of Open Access Journals (Sweden)

    Quiroga-Garza Gabriela

    2012-02-01

    Full Text Available Abstract Seven percent of renal cell carcinoma (RCC cases are diagnosed as "unclassified" RCC by morphology. Genetic profiling of RCCs helps define renal tumor subtypes, especially in cases where morphologic diagnosis is inconclusive. This report describes a patient with synchronous clear cell RCC (ccRCC and a tubulocystic renal carcinoma (TCRC in the same kidney, and discusses the pathologic features and genetic profile of both tumors. A 67 year-old male underwent CT scans for an unrelated medical event. Two incidental renal lesions were found and ultimately removed by radical nephrectomy. The smaller lesion had multiple small cystic spaces lined by hobnail cells with high nuclear grade separated by fibrous stroma. This morphology and the expression of proximal (CD10, AMACR and distal tubule cell (CK19 markers by immunohistochemistry supported the diagnosis of TCRC. The larger lesion was a typical ccRCC, with Fuhrman's nuclear grade 3 and confined to the kidney. Molecular characterization of both neoplasms using virtual karyotyping was performed to assess relatedness of these tumors. Low grade areas (Fuhrman grade 2 of the ccRCC showed loss of 3p and gains in chromosomes 5 and 7, whereas oncocytic areas displayed additional gain of 2p and loss of 10q; the high grade areas (Fuhrman grade 3 showed several additional imbalances. In contrast, the TCRC demonstrated a distinct profile with gains of chromosomes 8 and 17 and loss of 9. In conclusion, ccRCC and TCRC show distinct genomic copy number profiles and chromosomal imbalances in TCRC might be implicated in the pathogenesis of this tumor. Second, the presence of a ccRCC with varying degrees of differentiation exemplifies the sequence of chromosomal imbalances acquired during tumor progression. Virtual Slides The virtual slide(s for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1790525735655283

  18. The database of chromosome imbalance regions and genes resided in lung cancer from Asian and Caucasian identified by array-comparative genomic hybridization

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    Lo Fang-Yi

    2012-06-01

    Full Text Available Abstract Background Cancer-related genes show racial differences. Therefore, identification and characterization of DNA copy number alteration regions in different racial groups helps to dissect the mechanism of tumorigenesis. Methods Array-comparative genomic hybridization (array-CGH was analyzed for DNA copy number profile in 40 Asian and 20 Caucasian lung cancer patients. Three methods including MetaCore analysis for disease and pathway correlations, concordance analysis between array-CGH database and the expression array database, and literature search for copy number variation genes were performed to select novel lung cancer candidate genes. Four candidate oncogenes were validated for DNA copy number and mRNA and protein expression by quantitative polymerase chain reaction (qPCR, chromogenic in situ hybridization (CISH, reverse transcriptase-qPCR (RT-qPCR, and immunohistochemistry (IHC in more patients. Results We identified 20 chromosomal imbalance regions harboring 459 genes for Caucasian and 17 regions containing 476 genes for Asian lung cancer patients. Seven common chromosomal imbalance regions harboring 117 genes, included gain on 3p13-14, 6p22.1, 9q21.13, 13q14.1, and 17p13.3; and loss on 3p22.2-22.3 and 13q13.3 were found both in Asian and Caucasian patients. Gene validation for four genes including ARHGAP19 (10q24.1 functioning in Rho activity control, FRAT2 (10q24.1 involved in Wnt signaling, PAFAH1B1 (17p13.3 functioning in motility control, and ZNF322A (6p22.1 involved in MAPK signaling was performed using qPCR and RT-qPCR. Mean gene dosage and mRNA expression level of the four candidate genes in tumor tissues were significantly higher than the corresponding normal tissues (PP=0.06. In addition, CISH analysis of patients indicated that copy number amplification indeed occurred for ARHGAP19 and ZNF322A genes in lung cancer patients. IHC analysis of paraffin blocks from Asian Caucasian patients demonstrated that the frequency of

  19. The database of chromosome imbalance regions and genes resided in lung cancer from Asian and Caucasian identified by array-comparative genomic hybridization

    International Nuclear Information System (INIS)

    Lo, Fang-Yi; Nandi, Suvobroto; Salgia, Ravi; Wang, Yi-Ching; Chang, Jer-Wei; Chang, I-Shou; Chen, Yann-Jang; Hsu, Han-Shui; Huang, Shiu-Feng Kathy; Tsai, Fang-Yu; Jiang, Shih Sheng; Kanteti, Rajani

    2012-01-01

    Cancer-related genes show racial differences. Therefore, identification and characterization of DNA copy number alteration regions in different racial groups helps to dissect the mechanism of tumorigenesis. Array-comparative genomic hybridization (array-CGH) was analyzed for DNA copy number profile in 40 Asian and 20 Caucasian lung cancer patients. Three methods including MetaCore analysis for disease and pathway correlations, concordance analysis between array-CGH database and the expression array database, and literature search for copy number variation genes were performed to select novel lung cancer candidate genes. Four candidate oncogenes were validated for DNA copy number and mRNA and protein expression by quantitative polymerase chain reaction (qPCR), chromogenic in situ hybridization (CISH), reverse transcriptase-qPCR (RT-qPCR), and immunohistochemistry (IHC) in more patients. We identified 20 chromosomal imbalance regions harboring 459 genes for Caucasian and 17 regions containing 476 genes for Asian lung cancer patients. Seven common chromosomal imbalance regions harboring 117 genes, included gain on 3p13-14, 6p22.1, 9q21.13, 13q14.1, and 17p13.3; and loss on 3p22.2-22.3 and 13q13.3 were found both in Asian and Caucasian patients. Gene validation for four genes including ARHGAP19 (10q24.1) functioning in Rho activity control, FRAT2 (10q24.1) involved in Wnt signaling, PAFAH1B1 (17p13.3) functioning in motility control, and ZNF322A (6p22.1) involved in MAPK signaling was performed using qPCR and RT-qPCR. Mean gene dosage and mRNA expression level of the four candidate genes in tumor tissues were significantly higher than the corresponding normal tissues (P<0.001~P=0.06). In addition, CISH analysis of patients indicated that copy number amplification indeed occurred for ARHGAP19 and ZNF322A genes in lung cancer patients. IHC analysis of paraffin blocks from Asian Caucasian patients demonstrated that the frequency of PAFAH1B1 protein overexpression was 68

  20. Chromosome

    Science.gov (United States)

    ... St Louis, MO: Elsevier; 2017:chap 69. Taber's Medical Dictionary Online. Chromosome. www.tabers.com/tabersonline/view/Tabers-Dictionary/753321/all/chromosome?q=Chromosome&ti=0 . Accessed June 11, 2017.

  1. Chromosomal imbalances detected in primary bone tumors by comparative genomic hybridization and interphase fluorescence in situ hybridization

    Directory of Open Access Journals (Sweden)

    Marcelo Razera Baruffi

    2003-01-01

    Full Text Available We applied a combination of comparative genomic hybridization (CGH and fluorescence in situ hybridization (FISH, to characterize the genetic aberrations in three osteosarcomas (OS and one Ewing's sarcoma. CGH identified recurrent chromosomal losses at 10p14-pter and gains at 8q22.3-24.1 in OS. Interphase FISH allowed to confirm 8q gain in two cases. A high amplification level of 11q12-qter was detected in one OS. The Ewing's sarcoma showed gain at 1p32-36.1 as the sole chromosome alteration. These studies demonstrate the value of molecular cytogenetic methods in the characterization of recurrent genomic alterations in bone tumor tissue.

  2. [Application of chromosome microarray analysis for fetuses with multicystic dysplastic kidney].

    Science.gov (United States)

    Chen, Feifei; Lei, Tingying; Fu, Fang; Li, Ru; Zhang, Yongling; Jing, Xiangyi; Yang, Xin; Han, Jin; Zhen, Li; Pan, Min; Liao, Can

    2016-12-10

    To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA). Seventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software. Conventional cytogenetic technique has revealed three fetuses (4.2%) with identifiable chromosomal aberrations. CMA analysis has detected pathogenic CNVs in 5 fetuses (16.7%), which included two well-known microdeletion or microduplication syndromes, i.e., 17q12 microdeletion syndrome and Williams-Beuren syndrome (WBS) and three submicroscopic imbalances at 4q35.2, 22q13.33, and 1p33. PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 are likely the causative genes. CMA can identify the submicroscopic imbalances unidentifiable by conventional cytogenetic technique, and therefore has a significant role in prenatal diagnosis and genetic counseling. The detection rate of pathogenic CNVs in fetuses with MCDK was 16.7% by CMA. 17q12 microdeletion syndrome and WBS are associated with MCDK. Mutations of PEX26, FKBP6, TUBGCP6, ALG12, and CYP4A11 genes may be the causes for MCDK.

  3. Widespread dysregulation of MiRNAs by MYCN amplification and chromosomal imbalances in neuroblastoma: association of miRNA expression with survival.

    LENUS (Irish Health Repository)

    Bray, Isabella

    2009-01-01

    MiRNAs regulate gene expression at a post-transcriptional level and their dysregulation can play major roles in the pathogenesis of many different forms of cancer, including neuroblastoma, an often fatal paediatric cancer originating from precursor cells of the sympathetic nervous system. We have analyzed a set of neuroblastoma (n = 145) that is broadly representative of the genetic subtypes of this disease for miRNA expression (430 loci by stem-loop RT qPCR) and for DNA copy number alterations (array CGH) to assess miRNA involvement in disease pathogenesis. The tumors were stratified and then randomly split into a training set (n = 96) and a validation set (n = 49) for data analysis. Thirty-seven miRNAs were significantly over- or under-expressed in MYCN amplified tumors relative to MYCN single copy tumors, indicating a potential role for the MYCN transcription factor in either the direct or indirect dysregulation of these loci. In addition, we also determined that there was a highly significant correlation between miRNA expression levels and DNA copy number, indicating a role for large-scale genomic imbalances in the dysregulation of miRNA expression. In order to directly assess whether miRNA expression was predictive of clinical outcome, we used the Random Forest classifier to identify miRNAs that were most significantly associated with poor overall patient survival and developed a 15 miRNA signature that was predictive of overall survival with 72.7% sensitivity and 86.5% specificity in the validation set of tumors. We conclude that there is widespread dysregulation of miRNA expression in neuroblastoma tumors caused by both over-expression of the MYCN transcription factor and by large-scale chromosomal imbalances. MiRNA expression patterns are also predicative of clinical outcome, highlighting the potential for miRNA mediated diagnostics and therapeutics.

  4. Students' Conceptions about the Sub-Microscopic Approach to ...

    African Journals Online (AJOL)

    NICO

    The main objective of this study was to test chemistry students' competence, throughout the ... liquids, solids, solutions); the changes in the nature, arrangement and ... Sub-microscopic particles, sub-microscopic approach, properties of matter, explanations in chemistry. .... (e) Intramolecular bonds within the H2O molecules.

  5. Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning

    NARCIS (Netherlands)

    Bergen, A. A.; Wapenaar, M. C.; Schuurman, E. J.; Diergaarde, P. J.; Lerach, H.; Monaco, A. P.; Bakker, E.; Bleeker-Wagemakers, E. M.; van Ommen, G. J.

    1993-01-01

    Differential Alu PCR fingerprint cloning was used to isolate a DNA probe from the Xp11.4-->p11.21 region of the human X chromosome. This novel sequence, cpXr318 (DXS742), detects a new submicroscopic deletion interval at the Norrie disease locus (NDP). Combining our data with the consensus genetic

  6. Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11

    Energy Technology Data Exchange (ETDEWEB)

    Stratton, R.F. [South Texas Genetics Center, San Antonio, TX (United States); Payne, R.M. [Central Texas Genetics Center, Austin, TX (United States)

    1997-03-31

    We report on a 14-month-old girl with bifid nasal tip and tetralogy of Fallot. Several similar patients have been described with CNS or eye abnormalities. Chromosome analysis with FISH, using Oncor DiGeorge probes, confirmed a submicroscopic deletion of 22q11. Many patients with Shprintzen (velo-cardio-facial) syndrome have a similar deletion with conotruncal cardiac defects and an abnormal nasal shape, suggesting that a gene in this area, possibly affecting neural crest cells, influences facial and other midline development. 13 refs., 1 fig.

  7. Identification of submicroscopic chromosomal aberrations in fetuses with increased

    DEFF Research Database (Denmark)

    Leung, Tak Yeung; Vogel, Ida; Lau, Tze Kin

    2011-01-01

    Objective: Fetal nuchal translucency (NT) is assessed by ultrasound as a screening tool for aneuploidy at 11-13+6 weeks’ gestation. Fetuses with increased NT but apparently normal karyotyping result are still at higher risk of structural abnormality and a range of genetic syndromes, which may be ...

  8. Charge imbalance

    International Nuclear Information System (INIS)

    Clarke, J.

    1981-01-01

    This article provides a long theoretical development of the main ideas of charge imbalance in superconductors. Concepts of charge imbalance and quasiparticle charge are introduced, especially in regards to the use of tunnel injection in producing and detecting charge imbalance. Various mechanisms of charge relaxation are discussed, including inelastic scattering processes, elastic scattering in the presence of energy-gap anisotropy, and various pair-breaking mechanisms. In each case, present theories are reviewed in comparison with experimental data

  9. Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

    Directory of Open Access Journals (Sweden)

    Srebniak Malgorzata I

    2011-12-01

    Full Text Available Abstract Background Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenotype is of great value. Findings/results We report on two phenotypically normal foetuses carrying a maternally-inherited interstitial submicroscopic abnormality of chromosome 18p11.32. Both abnormalities were found with the aneuploidy MLPA kit P095 during rapid aneuploidy detection, which was offered along with conventional karyotyping. Foetus 1 and its mother have a 1,7 Mb deletion and foetus 2 and its mother have a 1,9 Mb duplication. In both cases normal babies were born. We used the HumanCytoSNP-12 array of Illumina to visualize the CNVs and map the breakpoints. Conclusions We suggest that a CNV at 18p11.32 (528,050-2,337,486 may represent a new benign euchromatic variant.

  10. Carriage of sub-microscopic sexual and asexual Plasmodium ...

    African Journals Online (AJOL)

    SUMMARY. Background: We investigated the prevalence of sub-microscopic Plasmodium falciparum infections and gameto- cyte carriage in asymptomatic individuals in Navrongo in northern Ghana, an area of seasonal malaria transmission. Design: A cross sectional study of 209 randomly selected participants of all ...

  11. Submicroscopic Plasmodium falciparum infections in pregnancy in Ghana

    NARCIS (Netherlands)

    Mockenhaupt, F. P.; Rong, B.; Till, H.; Eggelte, T. A.; Beck, S.; Gyasi-Sarpong, C.; Thompson, W. N.; Bienzle, U.

    2000-01-01

    Malarial parasitaemia below the threshold of microscopy but detectable by polymerase chain reaction (PCR) assays is common in endemic regions. This study was conducted to examine prevalence, predictors, and effects of submicroscopic Plasmodium falciparum infections in pregnancy. In a cross-sectional

  12. Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

    Directory of Open Access Journals (Sweden)

    Brockmann Knut

    2009-03-01

    Full Text Available Abstract Background Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR. The aim of the study was to evaluate a quantitative PCR (qPCR protocol established by Boehm et al. (2004 in the clinical routine of subtelomeric testing. Results 296 patients with MR and a normal karyotype (500–550 bands were screened for subtelomeric imbalances by using qPCR combined with SYBR green detection. In total, 17 patients (5.8% with 20 subtelomeric imbalances were identified. Six of the aberrations (2% were classified as causative for the symptoms, because they occurred either de novo in the patients (5 cases or the aberration were be detected in the patient and an equally affected parent (1 case. The extent of the deletions ranged from 1.8 to approximately 10 Mb, duplications were 1.8 to approximately 5 Mb in size. In 6 patients, the copy number variations (CNVs were rated as benign polymorphisms, and the clinical relevance of these CNVs remains unclear in 5 patients (1.7%. Therefore, the overall frequency of clinically relevant imbalances ranges between 2% and 3.7% in our cohort. Conclusion This study illustrates that the qPCR/SYBR green technique represents a rapid and versatile method for the detection of subtelomeric imbalances and the option to map the breakpoint. Thus, this technique is highly suitable for genotype/phenotype studies in patients with MR/developmental delay and/or congenital defects.

  13. Alternative Frameworks of the Secondary School Students on the Concept of Condensation at Submicroscopic Level

    Science.gov (United States)

    Abdullah, Nurdiana; Surif, Johari; Ismail, Syuhaida

    2016-01-01

    The study was carried out to identify the alternative frameworks on the concept of condensation at submicroscopic level among secondary school students (N = 324). Data was collected by using the qualitative method through the Understanding Test on the Concept of Matter at Submicroscopic Level which consisted of 10 open-ended questions. The…

  14. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

    Directory of Open Access Journals (Sweden)

    Wang Liwen

    2010-05-01

    Full Text Available Abstract Background Subtelomeric imbalance is widely accepted as related to developmental delay/mental retardation (DD/MR. Fine mapping of aberrations in gene-enriched subtelomeric regions provides essential clues for localizing critical regions, and provides a strategy for identifying new candidate genes. To date, no large-scale study has been conducted on subtelomeric aberrations in DD/MR patients in mainland China. Methods This study included 451 Chinese children with moderate to severe clinically unexplained DD/MR. The subtelomere-MLPA (multiplex ligation dependent probe amplification and Affymetrix human SNP array 6.0 were used to determine the subtelomeric copy number variations. The exact size and the breakpoint of each identified aberration were well defined. Results The submicroscopic subtelomeric aberrations were identified in 23 patients, with a detection rate of 5.1%. 16 patients had simple deletions, 2 had simple duplications and 5 with both deletions and duplications. The deletions involved 14 different subtelomeric regions (1p, 2p, 4p, 6p, 7p, 7q, 8p, 9p, 10p, 11q, 14q, 15q, 16p and 22q, and duplications involved 7 subtelomeric regions (3q, 4p, 6q, 7p, 8p, 12p and 22q. Of all the subtelomeric aberrations found in Chinese subjects, the most common was 4p16.3 deletion. The sizes of the deletions varied from 0.6 Mb to 12 Mb, with 5-143 genes inside. Duplicated regions were 0.26 Mb to 11 Mb, with 6-202 genes inside. In this study, four deleted subtelomeric regions and one duplicated region were smaller than any other previously reported, specifically the deletions in 11q25, 8p23.3, 7q36.3, 14q32.33, and the duplication in 22q13. Candidate genes inside each region were proposed. Conclusions Submicroscopic subtelomeric aberrations were detected in 5.1% of Chinese children with clinically unexplained DD/MR. Four deleted subtelomeric regions and one duplicated region found in this study were smaller than any previously reported, which

  15. Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.

    Science.gov (United States)

    Hassan, Maaz; Butler, Merlin G

    2016-11-01

    We report a 20 year follow up on a Caucasian female, now 26 years of age, with Prader-Willi syndrome (PWS) harboring an atypical 15q11-q13 submicroscopic deletion of 100-200 kb in size first detected in 1996 involving the imprinting center, SNRPN gene and surrounding region. PWS is a rare complex disorder caused by the loss of paternally expressed genes in the 15q11-q13 region. With high resolution chromosomal microarray and methylation - specific MLPA analysis, we updated the genetic findings on our patient and found a 209,819bp deletion including the SNURF-SNRPN gene complex which includes the imprinting center and the SNORD116 region. We compared with four other similarly reported individuals in the literature with atypical submicroscopic deletions within this region but without imprinting center involvement to better characterize the specific genetic lesions causing PWS clinical findings. Clinically, our patient met the diagnostic criteria of PWS including infantile hypotonia, a poor suck with feeding difficulties, global developmental delays and later food foraging, childhood obesity, small hands and skin picking. Small atypical deletions of comparable sizes were seen in the 15q11-q13 region in all five cases and similar behavioral/physical characteristics were found despite an imprinting defect in our patient. These results further support an overlapping critical deletion region involving the non-coding snoRNA SNORD116 in common in the five individuals playing a key role in contributing to the PWS phenotype. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  16. A sub-microscopic gametocyte reservoir can sustain malaria transmission.

    Directory of Open Access Journals (Sweden)

    Stephan Karl

    Full Text Available Novel diagnostic tools, including PCR and high field gradient magnetic fractionation (HFGMF, have improved detection of asexual Plasmodium falciparum parasites and especially infectious gametocytes in human blood. These techniques indicate a significant number of people carry gametocyte densities that fall below the conventional threshold of detection achieved by standard light microscopy (LM.To determine how low-level gametocytemia may affect transmission in present large-scale efforts for P. falciparum control in endemic areas, we developed a refinement of the classical Ross-Macdonald model of malaria transmission by introducing multiple infective compartments to model the potential impact of highly prevalent, low gametocytaemic reservoirs in the population. Models were calibrated using field-based data and several numerical experiments were conducted to assess the effect of high and low gametocytemia on P. falciparum transmission and control. Special consideration was given to the impact of long-lasting insecticide-treated bed nets (LLIN, presently considered the most efficient way to prevent transmission, and particularly LLIN coverage similar to goals targeted by the Roll Back Malaria and Global Fund malaria control campaigns. Our analyses indicate that models which include only moderate-to-high gametocytemia (detectable by LM predict finite eradication times after LLIN introduction. Models that include a low gametocytemia reservoir (requiring PCR or HFGMF detection predict much more stable, persistent transmission. Our modeled outcomes result in significantly different estimates for the level and duration of control needed to achieve malaria elimination if submicroscopic gametocytes are included.It will be very important to complement current methods of surveillance with enhanced diagnostic techniques to detect asexual parasites and gametocytes to more accurately plan, monitor and guide malaria control programs aimed at eliminating malaria.

  17. Options on capacity imbalance

    International Nuclear Information System (INIS)

    Roggen, M.

    2002-01-01

    Since the start of this year, the Dutch energy company Nuon has been using a computer system to formulate real-time responses to national capacity imbalances in the electricity supply market. The work earns Nuon a fixed fee from TenneT (Dutch Transmission System Operator) and ensures a more stable imbalance price for everyone. The key to success has been the decision to start the project from scratch [nl

  18. Balanced into array : genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

    NARCIS (Netherlands)

    Feenstra, Ilse; Hanemaaijer, Nicolien; Sikkema-Raddatz, Birgit; Yntema, Helger; Dijkhuizen, Trijnie; Lugtenberg, Dorien; Verheij, Joke; Green, Andrew; Hordijk, Roel; Reardon, William; de Vries, Bert; Brunner, Han; Bongers, Ernie; de Leeuw, Nicole; van Ravenswaaij-Arts, Conny

    2011-01-01

    High-resolution genome-wide array analysis enables detailed screening for cryptic and submicroscopic imbalances of microscopically balanced de novo rearrangements in patients with developmental delay and/or congenital abnormalities. In this report, we added the results of genome-wide array analysis

  19. Three Phase Power Imbalance Decomposition into Systematic Imbalance and Random Imbalance

    DEFF Research Database (Denmark)

    Kong, Wangwei; Ma, Kang; Wu, Qiuwei

    2017-01-01

    Uneven load allocations and random load behaviors are two major causes for three-phase power imbalance. The former mainly cause systematic imbalance, which can be addressed by low-cost phase swapping; the latter contribute to random imbalance, which requires relatively costly demand...... minimum phase, or both. Then, this paper proposes a new method to decompose three-phase power series into a systematic imbalance component and a random imbalance component as the closed-form solutions of quadratic optimization models that minimize random imbalance. A degree of power imbalance...... is calculated based on the systematic imbalance component to guide phase swapping. Case studies demonstrate that 72.8% of 782 low voltage substations have systematic imbalance components. The degree of power imbalance results reveal the maximum need for phase swapping and the random imbalance components reveal...

  20. Relations between ultrastructure of mitotic spindle and chromosome translocation

    OpenAIRE

    Jadwiga A. Tarkowska

    2014-01-01

    Dividing endosperm cells of Haemanthus katherinae Bak. treated with an 0.25 per cent mixture of water-soluble glycosides from Nerium oleander were insepected in a light microscope (LM) and severe disturbances were found in all phases of mitosis. The same cells were observed in the electron microscope (EM) and relations were noted and analysed between the chromosome arrangement and the submicroscopic structure of the mitotuc spindle. The successive steps in the disintegration of the formed spi...

  1. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  2. An Analysis of Undergraduate General Chemistry Students' Misconceptions of the Submicroscopic Level of Precipitation Reactions

    Science.gov (United States)

    Kelly, Resa M.; Barrera, Juliet H.; Mohamed, Saheed C.

    2010-01-01

    This study examined how 21 college-level general chemistry students, who had received instruction that emphasized the symbolic level of ionic equations, explained their submicroscopic-level understanding of precipitation reactions. Students' explanations expressed through drawings and semistructured interviews revealed the nature of the…

  3. Polymers and Cross-Linking: A CORE Experiment to Help Students Think on the Submicroscopic Level

    Science.gov (United States)

    Bruce, Mitchell R. M.; Bruce, Alice E.; Avargil, Shirly; Amar, Francois G.; Wemyss, Thomas M.; Flood, Virginia J.

    2016-01-01

    The Polymers and Cross-Linking experiment is presented via a new three phase learning cycle: CORE (Chemical Observations, Representations, Experimentation), which is designed to model productive chemical inquiry and to promote a deeper understanding about the chemistry operating at the submicroscopic level. The experiment is built on two familiar…

  4. On gradiometer imbalance

    NARCIS (Netherlands)

    Uzunbajakau, S.A.; Rijpma, A.P.; Brake, ter H.J.M.; Peters, M.J.

    2006-01-01

    We present methods to compute the imbalance in a gradiometer of arbitrary shape due to imperfections in its geometry, eddy currents induced in the radio-frequency interference shield, and screening currents induced in the modules of the superconducting quantum interference devices (SQUIDs). As an

  5. Where Is the Imbalance?

    Science.gov (United States)

    Chan, John H. F.

    2009-01-01

    For many researchers, the concept of a power imbalance is central to the understanding of bullying, and its presence in the bully-victim relationship is a prerequisite condition that needs to be fulfilled before bullying is deemed to have taken place. Despite the concept's central importance in many definitions of bullying, the nature of the power…

  6. Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

    OpenAIRE

    Fantes, J A; Bickmore, W A; Fletcher, J M; Ballesta, F; Hanson, I M; van Heyningen, V

    1992-01-01

    Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus. We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia who subsequently presented with Wilms tumor in a horseshoe kidney, only revealed at surgery. The mother, who has aniridia, was also found to carry a deletion including both the ...

  7. Understanding the triple nature of the chemical bond on submicroscopic level

    OpenAIRE

    Klun, Tina

    2017-01-01

    The master’s thesis addresses three definitions of chemical bond with particular emphasis on the sub-microscopic level in a comprehensive manner. Slovenian pupils are taught about chemical bond for the first time in the eighth grade of primary school as part of learning about the connection between particles. Due to the abstract nature of the notion chemical bond, it is essential that pupils are encouraged to learn about the topic on the macroscopic, sub microscopic and symbolic level as this...

  8. Submicroscopic malaria parasite carriage: how reproducible are polymerase chain reaction-based methods?

    Directory of Open Access Journals (Sweden)

    Daniela Camargos Costa

    2014-02-01

    Full Text Available The polymerase chain reaction (PCR-based methods for the diagnosis of malaria infection are expected to accurately identify submicroscopic parasite carriers. Although a significant number of PCR protocols have been described, few studies have addressed the performance of PCR amplification in cases of field samples with submicroscopic malaria infection. Here, the reproducibility of two well-established PCR protocols (nested-PCR and real-time PCR for the Plasmodium 18 small subunit rRNA gene were evaluated in a panel of 34 blood field samples from individuals that are potential reservoirs of malaria infection, but were negative for malaria by optical microscopy. Regardless of the PCR protocol, a large variation between the PCR replicates was observed, leading to alternating positive and negative results in 38% (13 out of 34 of the samples. These findings were quite different from those obtained from the microscopy-positive patients or the unexposed individuals; the diagnosis of these individuals could be confirmed based on the high reproducibility and specificity of the PCR-based protocols. The limitation of PCR amplification was restricted to the field samples with very low levels of parasitaemia because titrations of the DNA templates were able to detect < 3 parasites/µL in the blood. In conclusion, conventional PCR protocols require careful interpretation in cases of submicroscopic malaria infection, as inconsistent and false-negative results can occur.

  9. Competition for biomass. Regional imbalances

    International Nuclear Information System (INIS)

    Wiklund, S.E.; Bohlin, B.; Remes, M.; Aakesson, H.; Warnqvist, B.; Norrstroem, H.; Jonsson, Tomas

    1997-04-01

    The main aim of this study has been to investigate if a substantial increase in biofuel utilization may lead to pronounced regional differences in supply and demand, and what effects such imbalances could lead to. In the study the country has been split up into ten regions, from north to south, and it is confirmed that there would be an imbalance effect. confirmed that there would be an imbalance effect

  10. The effect of learning multimedia on students’ understanding of macroscopic, sub-microscopic, and symbolic levels in electrolyte and nonelectrolyte

    Science.gov (United States)

    Eliyawati; Rohman, I.; Kadarohman, A.

    2018-05-01

    This research aims to investigate the effect of learning multimedia on students’ understanding of macroscopic, sub-microscopic, and symbolic levels in electrolyte and nonelectrolyte topic. The quasi-experimental with one group pre-test post-test design was used. Thirty-five students were experimental class and another thirty-five were control class. The instrument was used is three representation levels. The t-test was performed on average level of 95% to identify the significant difference between experimental class and control class. The results show that the normalized gain average of experimental class is 0.75 (high) and the normalized gain average of control class is 0.45 (moderate). There is significant difference in students’ understanding in sub-microscopic and symbolic levels and there is not significant difference of students’ understanding in macroscopic level between experimental class and control class. The normalized gain of students’ understanding of macroscopic, sub-microscopic and symbolic in experimental class are 0.6 (moderate), 0.75 (high), and 0.64 (moderate), while the normalized gain of students’ understanding of macroscopic, sub-microscopic and symbolic in control class are 0.49 (moderate), 0.39 (high), and 0.3 (moderate). Therefore, it can be concluded that learning multimedia can help in improving students’ understanding especially in sub-microscopic and symbolic levels.

  11. Effectiveness of Intermittent Preventive Treatment in Pregnancy with Sulphadoxine-Pyrimethamine against Submicroscopic falciparum Malaria in Central Region, Ghana

    Directory of Open Access Journals (Sweden)

    Ekene K. Nwaefuna

    2015-01-01

    Full Text Available Malaria infections undetectable by microscopy but detectable by Polymerase Chain Reaction (PCR (submicroscopic malaria are common in endemic areas like Ghana. Submicroscopic malaria has been linked with severe pregnancy outcomes as well as contributing to malaria transmission. In this cross-sectional study 872 consenting pregnant women (gestation ≥ 20 weeks were recruited from 8 hospitals in Central Region, Ghana, between July and December 2009. Malaria infection was detected by microscopy and PCR. Haemoglobin was measured and anaemia was defined as haemoglobin lower than 11 g/dL. Majority of the women, 555 (63.6%, were Intermittent Preventive Treatment in Pregnancy with Sulphadoxine-Pyrimethamine (IPTp-SP users while 234 (36.4% were nonusers. The prevalence of malaria by microscopy was 20.9% (182/872 and 9.7% (67/688 of microscopy negative women had submicroscopic malaria. IPTp-SP usage significantly (odds ratio = 0.13, 95% confidence interval = 0.07–0.23, p=0.005 reduced the prevalence of submicroscopic malaria as more nonusers (51/234 than users (16/454 were PCR positive. After controlling for other variables the effect of IPTp-SP remained statistically significant (odds ratio = 0.11, 95% confidence interval = 0.02–0.22, p=0.006. These results suggest that Intermittent Preventive Treatment with Sulphadoxine-Pyrimethamine is useful in the reduction of submicroscopic malaria in pregnancy.

  12. Submicroscopic pores grafted using the residual sites produced by swift heavy ions

    International Nuclear Information System (INIS)

    Mazzei, R.; Betz, N.; Bermudez, G. Garcia; Massa, G.; Smolko, E.

    2005-01-01

    To produce nuclear track membranes (NTM) with submicroscopic pores poly(vinylidene difluoride) (PVDF) foils were irradiated with Cl, Ag and Pb ions. Then they were chemically etched for different times and grafted with acrylic acid. The grafting yields were determined by weight measurements as a function of ion fluence, etching time and also analysed using Fourier transform infrared spectroscopy. Both measurements suggest that the acrylic acid was grafted on the pore wall of the NTM using the active sites left by the ion beam

  13. Submicroscopic Plasmodium falciparum gametocyte carriage is common in an area of low and seasonal transmission in Tanzania

    DEFF Research Database (Denmark)

    Shekalaghe, Seif A; Bousema, J Teun; Kunei, Karaine K

    2007-01-01

    . In this study, we investigated submicroscopic asexual parasitaemia and gametocytaemia in inhabitants of an area of hypoendemic and seasonal malaria in Tanzania. METHODS: Two cross-sectional malariometric surveys were conducted in the dry and wet seasons of 2005 in villages in lower Moshi, Tanzania. Finger prick...... blood samples were taken to determine the prevalence of P. falciparum parasites by microscopy, rapid diagnostic test and real-time nucleic acid sequence-based amplification (QT-NASBA). RESULTS: 2752 individuals participated in the surveys, of whom 1.9% (51/2721) had microscopically confirmed asexual...... reveal that carriage of submicroscopic asexual parasite and gametocyte densities is relatively common in this low transmission area. Submicroscopic gametocytaemia is likely to be responsible for maintaining malarial transmission in the study area....

  14. Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

    Science.gov (United States)

    Neill, Nicholas J; Ballif, Blake C; Lamb, Allen N; Parikh, Sumit; Ravnan, J Britt; Schultz, Roger A; Torchia, Beth S; Rosenfeld, Jill A; Shaffer, Lisa G

    2011-04-01

    Insertions occur when a segment of one chromosome is translocated and inserted into a new region of the same chromosome or a non-homologous chromosome. We report 71 cases with unbalanced insertions identified using array CGH and FISH in 4909 cases referred to our laboratory for array CGH and found to have copy-number abnormalities. Although the majority of insertions were non-recurrent, several recurrent unbalanced insertions were detected, including three der(Y)ins(Y;18)(q?11.2;p11.32p11.32)pat inherited from parents carrying an unbalanced insertion. The clinical significance of these recurrent rearrangements is unclear, although the small size, limited gene content, and inheritance pattern of each suggests that the phenotypic consequences may be benign. Cryptic, submicroscopic duplications were observed at or near the insertion sites in two patients, further confounding the clinical interpretation of these insertions. Using FISH, linear amplification, and array CGH, we identified a 126-kb duplicated region from 19p13.3 inserted into MECP2 at Xq28 in a patient with symptoms of Rett syndrome. Our results demonstrate that although the interpretation of most non-recurrent insertions is unclear without high-resolution insertion site characterization, the potential for an otherwise benign duplication to result in a clinically relevant outcome through the disruption of a gene necessitates the use of FISH to determine whether copy-number gains detected by array CGH represent tandem duplications or unbalanced insertions. Further follow-up testing using techniques such as linear amplification or sequencing should be used to determine gene involvement at the insertion site after FISH has identified the presence of an insertion.

  15. Sex Chromosome Translocations in the Evolution of Reproductive Isolation

    Science.gov (United States)

    Tracey, Martin L.

    1972-01-01

    Haldane's rule states that in organisms with differentiated sex chromosomes, hybrid sterility or inviability is generally expressed more frequently in the heterogametic sex. This observation has been variously explained as due to either genic or chromosomal imbalance. The fixation probabilities and mean times to fixation of sex-chromosome translocations of the type necessary to explain Haldane's rule on the basis of chromosomal imbalance have been estimated in small populations of Drosophila melanogaster. The fixation probability of an X chromosome carrying the long arm of the Y(X·YL) is approximately 30% greater than expected under the assumption of no selection. No fitness differences associated with the attached YL segment were detected. The fixation probability of a deficient Y chromosome is 300% greater than expected when the X chromosome contains the deleted portion of the Y. It is suggested that sex-chromosome translocations may play a role in the establishment of reproductive isolation. PMID:4630586

  16. Submicroscopic malaria infections in pregnant women from six departments in Haiti.

    Science.gov (United States)

    Elbadry, Maha A; Tagliamonte, Massimiliano S; Raccurt, Christian P; Lemoine, Jean F; Existe, Alexandre; Boncy, Jacques; Weppelmann, Thomas A; Dame, John B; Okech, Bernard A

    2017-08-01

    To describe the epidemiology of malaria in pregnancy in Haiti. Cross-sectional study among pregnant women in six departments of Haiti. After obtaining informed consent, whole blood samples and demographic surveys were collected to investigate malaria prevalence, anaemia and socio-behavioural risk factors for infection, respectively. A total of 311 pregnant women were screened for Plasmodium falciparum infection using a rapid diagnostic test (RDT), microscopy and a novel, quantitative reverse transcriptase polymerase chain reaction method (qRT-PCR). Overall, 1.2% (4/311) of pregnant women were tested positive for malaria infection by both microscopy and RDT. However, using the qRT-PCR, 16.4% (51/311) of pregnant women were positive. The prevalence of malaria infection varied with geographical locations ranging between 0% and 46.4%. Additionally, 53% of pregnant women had some form of anaemia; however, no significant association was found between anaemia and submicroscopic malaria infection. The socio-behavioural risk factors identified to be protective of malaria infection were marital status (P < 0.05) and travel within one month prior to screening (P < 0.05). This study is the first to document the high prevalence of submicroscopic malaria infections among pregnant women in Haiti and identify social and behavioural risk factors for disease transmission. © 2017 John Wiley & Sons Ltd.

  17. Monoamine oxidase deficiency in males with an X chromosome deletion.

    Science.gov (United States)

    Sims, K B; de la Chapelle, A; Norio, R; Sankila, E M; Hsu, Y P; Rinehart, W B; Corey, T J; Ozelius, L; Powell, J F; Bruns, G

    1989-01-01

    Mapping of the human MAOA gene to chromosomal region Xp21-p11 prompted our study of two affected males in a family previously reported to have Norrie disease resulting from a submicroscopic deletion in this chromosomal region. In this investigation we demonstrate in these cousins deletion of the MAOA gene, undetectable levels of MAO-A and MAO-B activities in their fibroblasts and platelets, respectively, loss of mRNA for MAO-A in fibroblasts, and substantial alterations in urinary catecholamine metabolites. The present study documents that a marked deficiency of MAO activity is compatible with life and that genes for MAO-A and MAO-B are near each other in this Xp chromosomal region. Some of the clinical features of these MAO deletion patients may help to identify X-linked MAO deficiency diseases in humans.

  18. Distinct evolutionary mechanisms for genomic imbalances in high-risk and low-risk neuroblastomas

    Directory of Open Access Journals (Sweden)

    Gisselsson David

    2007-09-01

    Full Text Available Abstract Background Neuroblastoma (NB is the most common extracranial solid tumour of childhood. Several genomic imbalances correlate to prognosis in NB, with structural rearrangements, including gene amplification, in a near-diploid setting typically signifying high-risk tumours and numerical changes in a near-triploid setting signifying low-risk tumours. Little is known about the temporal sequence in which these imbalances occur during the carcinogenic process. Methods We have reconstructed the appearance of cytogenetic imbalances in 270 NBs by first grouping tumours and imbalances through principal component analysis and then using the number of imbalances in each tumour as an indicator of evolutionary progression. Results Tumours clustered in four sub-groups, dominated respectively by (1 gene amplification in double minute chromosomes and few other aberrations, (2 gene amplification and loss of 1p sequences, (3 loss of 1p and other structural aberrations including gain of 17q, and (4 whole-chromosome gains and losses. Temporal analysis showed that the structural changes in groups 1–3 were acquired in a step-wise fashion, with loss of 1p sequences and the emergence of double minute chromosomes as the earliest cytogenetic events. In contrast, the gains and losses of whole chromosomes in group 4 occurred through multiple simultaneous events leading to a near-triploid chromosome number. Conclusion The finding of different temporal patterns for the acquisition of genomic imbalances in high-risk and low-risk NBs lends strong support to the hypothesis that these tumours are biologically diverse entities, evolving through distinct genetic mechanisms.

  19. Drivers of imbalance cost of wind power

    DEFF Research Database (Denmark)

    Obersteiner, C.; Siewierski, T.; Andersen, Anders

    2010-01-01

    In Europe an increasing share of wind power is sold on the power market. Therefore more and more wind power generators become balancing responsible and face imbalance cost that reduce revenues from selling wind power. A comparison of literature illustrates that the imbalance cost of wind power...... varies in a wide range. To explain differences we indentify parameters influencing imbalance cost and compare them for case studies in Austria, Denmark and Poland. Besides the wind power forecast error also the correlation between imbalance and imbalance price influences imbalance cost significantly...... of imperfect forecast is better suited to reflect real cost incurred due to inaccurate wind power forecasts....

  20. A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163 kb and microduplication of 288 kb at 11p13 and 11q22.3 without aniridia or eye anomalies.

    Science.gov (United States)

    Balay, Lara; Totten, Ellen; Okada, Luna; Zell, Sidney; Ticho, Benjamin; Israel, Jeannette; Kogan, Jillene

    2016-01-01

    Interstitial deletions of 11p13 involving MPPED2, DCDC5, DCDC1, DNAJC24, IMMP1L, and ELP4 are previously reported to have downstream transcriptional effects on the expression of PAX6, due to a downstream regulatory region (DRR). Currently, no clear genotype-phenotype correlations have been established allowing for conclusive information regarding the exact location of the PAX6 DRR, though its location has been approximated in mouse models to be within the Elp4 gene. Of the clinical reports currently published examining patients with intact PAX6 genes but harboring deletions identified in genes downstream of PAX6, 100% indicate phenotypes which include aniridia, whereas approximately half report additional eye deformities, autism, or intellectual disability. In this clinical report, we present a 12-year-old male patient, his brother, and mother with pericentric inversions of chromosome 11 associated with submicroscopic interstitial deletions of 11p13 and duplications of 11q22.3. The inversions were identified by standard cytogenetic analysis; microarray and FISH detected the chromosomal imbalance. The patient's phenotype includes intellectual disability, speech abnormalities, and autistic behaviors, but interestingly neither the patient, his brother, nor mother have aniridia or other eye anomalies. To the best of our knowledge, these findings in three family members represent the only reported cases with 11p13 deletions downstream of PAX6 not demonstrating phenotypic characteristics of aniridia or abnormal eye development. Although none of the deleted genes are obvious candidates for the patient's phenotype, the absence of aniridia in the presence of this deletion in all three family members further delineates the location of the DRR for PAX6. © 2015 Wiley Periodicals, Inc.

  1. Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

    DEFF Research Database (Denmark)

    Kjaergaard, S; Sundberg, K; Jørgensen, F S

    2010-01-01

    The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndrome...... and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting....

  2. Genomic imbalances in syndromic congenital heart disease.

    Science.gov (United States)

    Molck, Miriam Coelho; Simioni, Milena; Paiva Vieira, Társis; Sgardioli, Ilária Cristina; Paoli Monteiro, Fabíola; Souza, Josiane; Fett-Conte, Agnes Cristina; Félix, Têmis Maria; Lopes Monlléo, Isabella; Gil-da-Silva-Lopes, Vera Lúcia

    To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993kb duplication in 15q21.1 and 706kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD. Copyright © 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  3. Dijet imbalance in hadronic collisions

    International Nuclear Information System (INIS)

    Boer, Danieel; Mulders, Piet J.; Pisano, Cristian

    2009-01-01

    The imbalance of dijets produced in hadronic collisions has been used to extract the average transverse momentum of partons inside the hadrons. In this paper we discuss new contributions to the dijet imbalance that could complicate or even hamper this extraction. They are due to polarization of initial state partons inside unpolarized hadrons that can arise in the presence of nonzero parton transverse momentum. Transversely polarized quarks and linearly polarized gluons produce specific azimuthal dependences of the two jets that in principle are not suppressed. Their effects cannot be isolated just by looking at the angular deviation from the back-to-back situation; rather they enter jet broadening observables. In this way they directly affect the extraction of the average transverse momentum of unpolarized partons that is thought to be extracted. We discuss appropriately weighted cross sections to isolate the additional contributions.

  4. TARGET Imbalances at Record Levels

    DEFF Research Database (Denmark)

    Hallett, Andrew Hughes

    quantitative easing, but are not driven by it. The main threats are the divergence that interrupts further economic integration; and the increasing liabilities taken on by the ECB since 2015. That said, self-correcting mechanisms are weak which makes symmetric adjustments by both creditor and debtor countries...... essential (because of the adding up constraint); and the difficulty that the imbalances cannot always be eliminated simply by balancing current accounts around the system....

  5. Modeling Chromosomes

    Science.gov (United States)

    Robertson, Carol

    2016-01-01

    Learning about chromosomes is standard fare in biology classrooms today. However, students may find it difficult to understand the relationships among the "genome", "chromosomes", "genes", a "gene locus", and "alleles". In the simple activity described in this article, which follows the 5E approach…

  6. Chromosomal Conditions

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Chromosomal conditions Chromosomal conditions ... Disorders See also: Genetic counseling , Your family health history Last reviewed: February, 2013 ... labor & premature birth The newborn intensive care unit (NICU) Birth defects & ...

  7. Nutrient imbalance in Norway spruce

    International Nuclear Information System (INIS)

    Thelin, Gunnar

    2000-11-01

    The studies presented in my thesis indicate that growing Norway spruce in monoculture does not constitute sustainable forest management in a high N and S deposition environment, such as in southern Sweden. The combination of N-induced high growth rates and leaching due to soil acidification causes soil reserves of nutrients to decrease. This will increase the risk of nutrient imbalance within the trees when nutrient demands are not met. The development of nutrient imbalance in Scania, southern Sweden, was shown as negative trends in needle and soil nutrient status from the mid-80s to the present in Norway spruce and Scots pine stands. This imbalance appears to be connected to high levels of N and S deposition. Clear negative effects on tree vitality were found when using a new branch development method. Today, growth and vitality seems to be limited by K, rather than N, in spruce stands older than 40 years. However, younger stands appear to be able to absorb the deposited N without negative effects on growth and vitality. When investigating effects of nutrient stress on tree vitality, indicators such as branch length and shoot multiplication rate, which include effects accumulated over several years, are suitable. Countermeasures are needed in order to maintain the forest production at a high level. Positive effects on tree nutrient status after vitality fertilization (N-free fertilization) was shown in two micronutrient deficient stands in south-central Sweden. In addition, tree vitality was positively affected after the application of a site-adapted fertilizer to the canopy. Site-adaption of fertilizers will most likely improve the possibilities of a positive response on tree growth and vitality in declining stands. In a survey of Norway spruce in mixtures with beech, birch, or oak compared to monocultures it was shown that spruce nutrient status was higher in mixtures with deciduous species than in monocultures. By using mixed-species stands the need for

  8. Nutrient imbalance in Norway spruce

    Energy Technology Data Exchange (ETDEWEB)

    Thelin, Gunnar

    2000-11-01

    The studies presented in my thesis indicate that growing Norway spruce in monoculture does not constitute sustainable forest management in a high N and S deposition environment, such as in southern Sweden. The combination of N-induced high growth rates and leaching due to soil acidification causes soil reserves of nutrients to decrease. This will increase the risk of nutrient imbalance within the trees when nutrient demands are not met. The development of nutrient imbalance in Scania, southern Sweden, was shown as negative trends in needle and soil nutrient status from the mid-80s to the present in Norway spruce and Scots pine stands. This imbalance appears to be connected to high levels of N and S deposition. Clear negative effects on tree vitality were found when using a new branch development method. Today, growth and vitality seems to be limited by K, rather than N, in spruce stands older than 40 years. However, younger stands appear to be able to absorb the deposited N without negative effects on growth and vitality. When investigating effects of nutrient stress on tree vitality, indicators such as branch length and shoot multiplication rate, which include effects accumulated over several years, are suitable. Countermeasures are needed in order to maintain the forest production at a high level. Positive effects on tree nutrient status after vitality fertilization (N-free fertilization) was shown in two micronutrient deficient stands in south-central Sweden. In addition, tree vitality was positively affected after the application of a site-adapted fertilizer to the canopy. Site-adaption of fertilizers will most likely improve the possibilities of a positive response on tree growth and vitality in declining stands. In a survey of Norway spruce in mixtures with beech, birch, or oak compared to monocultures it was shown that spruce nutrient status was higher in mixtures with deciduous species than in monocultures. By using mixed-species stands the need for

  9. Exceptional Complex Chromosomal Rearrangements in Three Generations

    Directory of Open Access Journals (Sweden)

    Hannie Kartapradja

    2015-01-01

    Full Text Available We report an exceptional complex chromosomal rearrangement (CCR found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

  10. Chromosome Territories

    OpenAIRE

    Cremer, Thomas; Cremer, Marion

    2010-01-01

    Chromosome territories (CTs) constitute a major feature of nuclear architecture. In a brief statement, the possible contribution of nuclear architecture studies to the field of epigenomics is considered, followed by a historical account of the CT concept and the final compelling experimental evidence of a territorial organization of chromosomes in all eukaryotes studied to date. Present knowledge of nonrandom CT arrangements, of the internal CT architecture, and of structural interactions wit...

  11. Chromosomal aberration

    International Nuclear Information System (INIS)

    Ishii, Yutaka

    1988-01-01

    Chromosomal aberrations are classified into two types, chromosome-type and chromatid-type. Chromosom-type aberrations include terminal deletion, dicentric, ring and interstitial deletion, and chromatid-type aberrations include achromatic lesion, chromatid deletion, isochromatid deletion and chromatid exchange. Clastogens which induce chromosomal aberration are divided into ''S-dependent'' agents and ''S-independent''. It might mean whether they can induce double strand breaks independent of the S phase or not. Double strand breaks may be the ultimate lesions to induce chromosomal aberrations. Caffeine added even in the G 2 phase appeared to modify the frequency of chromatid aberrations induced by X-rays and mitomycin C. Those might suggest that the G 2 phase involves in the chromatid aberration formation. The double strand breaks might be repaired by ''G 2 repair system'', the error of which might yield breakage types of chromatid aberrations and the by-pass of which might yield chromatid exchanges. Chromosome-type aberrations might be formed in the G 1 phase. (author)

  12. Triple-color super-resolution imaging of live cells: resolving submicroscopic receptor organization in the plasma membrane.

    Science.gov (United States)

    Wilmes, Stephan; Staufenbiel, Markus; Lisse, Domenik; Richter, Christian P; Beutel, Oliver; Busch, Karin B; Hess, Samuel T; Piehler, Jacob

    2012-05-14

    In living color: efficient intracellular covalent labeling of proteins with a photoswitchable dye using the HaloTag for dSTORM super-resolution imaging in live cells is described. The dynamics of cellular nanostructures at the plasma membrane were monitored with a time resolution of a few seconds. In combination with dual-color FPALM imaging, submicroscopic receptor organization within the context of the membrane skeleton was resolved. Copyright © 2012 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  13. Allelic imbalance and fine mapping of the 17p13.3 subregion in sporadic breast carcinomas

    DEFF Research Database (Denmark)

    Hoff, C; Mollenhauer, J; Waldau, B

    2001-01-01

    Chromosome arm 17p is frequently altered in a variety of human cancers, especially in breast cancer, and allelic imbalances (AIs) in the region 17p13.1 do not always coincide with mutations in the TP53 gene. A second interval that frequently shows AIs at 17p is the chromosomal band 17p13.3. This ......Chromosome arm 17p is frequently altered in a variety of human cancers, especially in breast cancer, and allelic imbalances (AIs) in the region 17p13.1 do not always coincide with mutations in the TP53 gene. A second interval that frequently shows AIs at 17p is the chromosomal band 17p13...

  14. Charge imbalance: its relaxation, diffusion and oscillation

    International Nuclear Information System (INIS)

    Pethick, C.J.

    1981-01-01

    In this article, the authors use a model for charge density based on two charge components: the normal quasiparticle component and the superfluid/condensate component. Based on the quasiparticle Boltzmann equation, this two-component model, when used in nonequilibrium contexts, is fruitful in describing a variety of charge-imbalance phenomena in superconductors. The authors discuss various methods of generating charge-imbalances, charge-imbalance relaxation processes (such as phonons, impurity scattering and magnetic impurities) and applications of the two-component model of charge imbalance to spatially inhomogeneous conditions

  15. Neurovascular conflict in oculomotor imbalance

    Directory of Open Access Journals (Sweden)

    Natalya Agafonovna Totolyan

    2015-12-01

    Full Text Available This article, based on the data of Russian and foreign literature, considers modern approaches to the understanding of neurovascular conflict (NVC term, different causes of its development and realization mechanisms; statistical data are presented on its occurrence in different medical specialties; modern approaches to early diagnosis of neurovascular conflicts are covered. Special attention is drawn to oculomotor imbalances being one of neurovascular conflict manifestations. Based on global experience, approaches to most exact and early diagnosis are described, differences in notion terminology of neurovascular contact and neurovascular conflict are shown. As most effective method for NVC diagnosis, the use of neurovisualization method, that is high-resolution magnetic resonance imaging (MRI (high field MRI, is positioned.

  16. Global imbalances: a gathering storm

    Directory of Open Access Journals (Sweden)

    Ugo Sacchetti

    2010-01-01

    Full Text Available This article provides a detailed analysis of the many factors that, over a period of several years, have contributed to the international financial crisis and highlights the global imbalances, both financial and economic, that continue to pose significant threats to the stability of the world economy. The examination goes beyond looking strictly at the case of the USA to include the positions of other relevant countries, and underscores the shifting relations between the USA and the rest of the world. The pertinent geopolitical aspects are covered, followed by a discussion on possible institutional changes in international financial agencies, prospective financial problems of the USA and their implications, monetary developments, external balances, and international economic problems.

  17. Reflections on the surface energy imbalance problem

    Science.gov (United States)

    Ray Leuning; Eva van Gorsela; William J. Massman; Peter R. Isaac

    2012-01-01

    The 'energy imbalance problem' in micrometeorology arises because at most flux measurement sites the sum of eddy fluxes of sensible and latent heat (H + λE) is less than the available energy (A). Either eddy fluxes are underestimated or A is overestimated. Reasons for the imbalance are: (1) a failure to satisfy the fundamental assumption of one-...

  18. Computing Thermal Imbalance Forces On Satellites

    Science.gov (United States)

    Vigue, Yvonne; Schutz, Robert E.; Sewell, Granville; Abusali, Pothai A. M.

    1994-01-01

    HEAT.PRO computer program calculates imbalance force caused by heating of surfaces of satellite. Calculates thermal imbalance force and determines its effect on orbit of satellite, especially where shadow cast by Earth Causes periodic changes in thermal environment around satellite. Written in FORTRAN 77.

  19. Gender Imbalance and Terrorism in Developing Countries

    Science.gov (United States)

    Younas, Javed

    2016-01-01

    This article investigates whether gender imbalance may be conducive to domestic terrorism in developing countries. A female-dominated society may not provide sufficient administration, law, or order to limit domestic terrorism, especially since societies in developing countries primarily turn to males for administration, policing, and paramilitary forces. Other economic considerations support female imbalance resulting in grievance-generated terrorism. Because male dominance may also be linked to terrorism, empirical tests are ultimately needed to support our prediction. Based on panel data for 128 developing countries for 1975 to 2011, we find that female gender imbalance results in more total and domestic terrorist attacks. This female gender imbalance does not affect transnational terrorism in developing countries or domestic and transnational terrorism in developed countries. Further tests show that gender imbalance affects terrorism only when bureaucratic institutions are weak. Many robustness tests support our results. PMID:28232755

  20. Gender Imbalance and Terrorism in Developing Countries.

    Science.gov (United States)

    Younas, Javed; Sandler, Todd

    2017-03-01

    This article investigates whether gender imbalance may be conducive to domestic terrorism in developing countries. A female-dominated society may not provide sufficient administration, law, or order to limit domestic terrorism, especially since societies in developing countries primarily turn to males for administration, policing, and paramilitary forces. Other economic considerations support female imbalance resulting in grievance-generated terrorism. Because male dominance may also be linked to terrorism, empirical tests are ultimately needed to support our prediction. Based on panel data for 128 developing countries for 1975 to 2011, we find that female gender imbalance results in more total and domestic terrorist attacks. This female gender imbalance does not affect transnational terrorism in developing countries or domestic and transnational terrorism in developed countries. Further tests show that gender imbalance affects terrorism only when bureaucratic institutions are weak. Many robustness tests support our results.

  1. Relations between ultrastructure of mitotic spindle and chromosome translocation

    Directory of Open Access Journals (Sweden)

    Jadwiga A. Tarkowska

    2014-01-01

    Full Text Available Dividing endosperm cells of Haemanthus katherinae Bak. treated with an 0.25 per cent mixture of water-soluble glycosides from Nerium oleander were insepected in a light microscope (LM and severe disturbances were found in all phases of mitosis. The same cells were observed in the electron microscope (EM and relations were noted and analysed between the chromosome arrangement and the submicroscopic structure of the mitotuc spindle. The successive steps in the disintegration of the formed spindle are described: fragmentatiun of all microtubules (MTs starting from the poles, disappearance of non-kinetachore MTs and further the external MTs of the kineto,chore bundle. The central (internal parallel ones remain the longest at the kinerf,ochares. Oleander glycosides cause disintegration of the existing MTs and prevent formation of new ones. The causes of restitution transformations in the successive phases of mitosis are discussed.

  2. Clinical outcomes of submicroscopic infections and correlates of protection of VAR2CSA antibodies in a longitudinal study of pregnant women in Colombia

    DEFF Research Database (Denmark)

    Gavina, Kenneth; Gnidehou, Sedami; Arango, Eliana

    2018-01-01

    Malaria in pregnancy can cause serious adverse outcomes for the mother and the fetus. However, little is known about the effects of submicroscopic infections (SMIs) in pregnancy, particularly in areas wherePlasmodium falciparumandPlasmodium vivaxcocirculate. A cohort of 187 pregnant women living ...

  3. Charge-imbalance fluctuations in superconductors

    International Nuclear Information System (INIS)

    Lemberger, T.R.

    1981-01-01

    We calculate that the mean-square amplitude of the fluctuations of the condensate chemical potential μ/sub s/ due to charge-imbalance fluctuations in the limit Δ/k/sub B/T 2 > = 2(k/sub B/T) 2 /πdeltaΩN(0) in a volume Ω of superconductor. We relate these fluctuations via Nyquist's theorem to measured values of the contribution of self-injected charge imbalance to the dc resistance of SIN tunnel junctions. In this relation the dynamic charge-imbalance relaxation rate is 1/tau/sub E/, the electron-phonon scattering rate

  4. Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

    Science.gov (United States)

    Roselló, M; Monfort, S; Orellana, C; Ferrer-Bolufer, I; Quiroga, R; Oltra, S; Martínez, F

    2009-01-01

    Chromosomal rearrangements in the short arm of chromosome 4 can result in 2 different clinical entities: Wolf-Hirschhorn syndrome (WHS), characterized by severe growth delay, mental retardation, microcephaly, 'Greek helmet' facies, and closure defects, or partial 4p trisomy, associated with multiple congenital anomalies, mental retardation, and facial dysmorphisms. We present clinical and laboratory findings in a patient who showed a small duplication in 4p16.3 associated with a subtle terminal deletion in the same chromosomal region. GTG-banding analyses, multiplex ligation-dependent probe amplification analyses, and studies by array-based comparative genomic hybridization were performed. The results of the analyses revealed a de novo 1.3 Mb deletion of the terminal 4p and a 1.1 Mb duplication in our patient, encompassing the WHS critical region. Interestingly, this unusual duplication/deletion rearrangement results in an intermediate phenotype that shares characteristics of the WHS and the 4p trisomy syndrome. The use of novel technologies in the genetic diagnosis leads to the description of new clinical syndromes; there is a growing list of microduplication syndromes. Therefore, we propose that overexpression of candidate genes in WHS (WHSC1, WHSC2 and LETM1) due to a duplication causes a clinical entity different to both the WHS and 4p trisomy syndrome. (c) 2009 S. Karger AG, Basel.

  5. The charge imbalance in ultracold plasmas

    International Nuclear Information System (INIS)

    Chen, Tianxing; Lu, Ronghua; Guo, Li; Han, Shensheng

    2016-01-01

    Ultracold plasmas are regarded as quasineutral but not strictly neutral. The results of charge imbalance in the expansion of ultracold plasmas are reported. The calculations are performed by a full molecular-dynamics simulation. The details of the electron velocity distributions are calculated without the assumption of electron global thermal equilibrium and Boltzmann distribution. Spontaneous evolutions of the charge imbalance from the initial states with perfect neutrality are given in the simulations. The expansion of outer plasma slows down with the charge imbalance. The influences of plasma size and parameters on the charge imbalance are discussed. The radial profiles of electron temperature are given for the first time, and the self-similar expansion can still occur even if there is no global thermal equilibrium. The electron disorder induced heating is also found in the simulation.

  6. The charge imbalance in ultracold plasmas

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Tianxing; Lu, Ronghua, E-mail: lurh@siom.ac.cn; Guo, Li; Han, Shensheng [Key Laboratory for Quantum Optics and Center for Cold Atom Physics, Shanghai Institute of Optics and Fine Mechanics, Chinese Academy of Sciences, Shanghai 201800 (China)

    2016-09-15

    Ultracold plasmas are regarded as quasineutral but not strictly neutral. The results of charge imbalance in the expansion of ultracold plasmas are reported. The calculations are performed by a full molecular-dynamics simulation. The details of the electron velocity distributions are calculated without the assumption of electron global thermal equilibrium and Boltzmann distribution. Spontaneous evolutions of the charge imbalance from the initial states with perfect neutrality are given in the simulations. The expansion of outer plasma slows down with the charge imbalance. The influences of plasma size and parameters on the charge imbalance are discussed. The radial profiles of electron temperature are given for the first time, and the self-similar expansion can still occur even if there is no global thermal equilibrium. The electron disorder induced heating is also found in the simulation.

  7. Trunk imbalance in adolescent idiopathic scoliosis.

    Science.gov (United States)

    Fortin, Carole; Grunstein, Erin; Labelle, Hubert; Parent, Stefan; Ehrmann Feldman, Debbie

    2016-06-01

    Trunk imbalance (ie, frontal trunk shift measured with a plumb line from C7 to S1) is part of the clinical evaluation in adolescent idiopathic scoliosis (AIS), but its prevalence and relationship with scoliosis, back pain, and health-related factors are not well documented. The principal objectives are to document trunk imbalance prevalence and to explore the association between trunk imbalance and the following factors: Cobb angle, type of scoliosis, back pain, function, mental health, and self-image. The secondary objective is to determine back pain prevalence and the relationship between back pain and each of the following: Cobb angle, function, mental health, and self-image. This is a cross-sectional study in a scoliosis clinic of a tertiary university hospital center. The sample includes youth with AIS (N=55). The outcome measures were trunk imbalance prevalence and magnitude, and back pain prevalence and intensity using the Numeric Pain Rating Scale (NPRS) and the Scoliosis Research Society-22 (SRS-22) pain score, and the function, self-image, and mental health domains of the SRS-22. Trunk imbalance and back pain were assessed in 55 patients with AIS (Cobb angle: 10-60°). Patients completed the SRS-22 questionnaire and the NPRS. Correlations were done between trunk imbalance and scoliosis (Cobb angle, type of scoliosis), back pain (NPRS and SRS-22 pain score), and health-related factors using Pearson correlation coefficients (r) and logistic regression models. Trunk imbalance prevalence is 85% and back pain prevalence is 73%. We found fair to moderate significant positive correlation between trunk imbalance and Cobb angle (r=0.32-0.66, pself-image, or type of scoliosis. Lower self-reported pain significantly correlated with lower Cobb angles (r=0.29, p=.03), higher function (r=0.55, p=.000), higher self-image (r=0.44, p=.001), and better mental health (r=0.48, p=.000). There was a trend for trunk imbalance to be related with lower pain in logistic regression

  8. Probing Lipid Bilayers under Ionic Imbalance.

    Science.gov (United States)

    Lin, Jiaqi; Alexander-Katz, Alfredo

    2016-12-06

    Biological membranes are normally under a resting transmembrane potential (TMP), which originates from the ionic imbalance between extracellular fluids and cytosols, and serves as electric power storage for cells. In cell electroporation, the ionic imbalance builds up a high TMP, resulting in the poration of cell membranes. However, the relationship between ionic imbalance and TMP is not clearly understood, and little is known about the effect of ionic imbalance on the structure and dynamics of biological membranes. In this study, we used coarse-grained molecular dynamics to characterize a dipalmitoylphosphatidylcholine bilayer system under ionic imbalances ranging from 0 to ∼0.06 e charges per lipid (e/Lip). We found that the TMP displayed three distinct regimes: 1) a linear regime between 0 and 0.045 e/Lip, where the TMP increased linearly with ionic imbalance; 2) a yielding regime between ∼0.045 and 0.060 e/Lip, where the TMP displayed a plateau; and 3) a poration regime above ∼0.060 e/Lip, where we observed pore formation within the sampling time (80 ns). We found no structural changes in the linear regime, apart from a nonlinear increase in the area per lipid, whereas in the yielding regime the bilayer exhibited substantial thinning, leading to an excess of water and Na + within the bilayer, as well as significant misalignment of the lipid tails. In the poration regime, lipid molecules diffused slightly faster. We also found that the fluid-to-gel phase transition temperature of the bilayer dropped below the normal value with increased ionic imbalances. Our results show that a high ionic imbalance can substantially alter the essential properties of the bilayer, making the bilayer more fluid like, or conversely, depolarization of a cell could in principle lead to membrane stiffening. Copyright © 2016 Biophysical Society. Published by Elsevier Inc. All rights reserved.

  9. Thermoelectric charge imbalance in superconducting aluminum

    International Nuclear Information System (INIS)

    Heidel, D.F.; Garland, J.C.

    1981-01-01

    The charge imbalance voltage produced in superconducting aluminum by the presence of a temperature gradient and an electric current has been studied over the temperature range 0.5-1.2 K. Measurements were obtained of the magnitude and temperature dependence of the charge imbalance voltage of seven samples, two of which contained magnetic impurities. The data are compared with recent theoretical models of the effect

  10. Dynamic Imbalance Would Counter Offcenter Thrust

    Science.gov (United States)

    Mccanna, Jason

    1994-01-01

    Dynamic imbalance generated by offcenter thrust on rotating body eliminated by shifting some of mass of body to generate opposing dynamic imbalance. Technique proposed originally for spacecraft including massive crew module connected via long, lightweight intermediate structure to massive engine module, such that artificial gravitation in crew module generated by rotating spacecraft around axis parallel to thrust generated by engine. Also applicable to dynamic balancing of rotating terrestrial equipment to which offcenter forces applied.

  11. Allelic imbalance and cytogenetic deletion of 1p in colorectal adenomas: a target region identified between DIS199 and DIS234

    DEFF Research Database (Denmark)

    Bomme, L; Heim, S; Bardi, G

    1998-01-01

    short-term cultured and karyotyped colorectal adenomas for allelic imbalance at eight microsatellite loci in 1p. Allelic imbalances were detected in seven of the 12 adenomas that had cytogenetically visible abnormalities of chromosome 1, as well as in four adenomas that either had a normal karyotype...... region. This genomic area contains the human homologue of the tumor modifier gene Mom1 (1p35-36.1), which, in mice, modifies the number of intestinal tumors in multiple intestinal neoplasia (Min)-mutated animals. To evaluate whether the imbalances corresponded to interstitial deletions of 1p material, we...

  12. Molecular Detection of Malaria at Delivery Reveals a High Frequency of Submicroscopic Infections and Associated Placental Damage in Pregnant Women from Northwest Colombia

    Science.gov (United States)

    Arango, Eliana M.; Samuel, Roshini; Agudelo, Olga M.; Carmona-Fonseca, Jaime; Maestre, Amanda; Yanow, Stephanie K.

    2013-01-01

    Plasmodium infection in pregnancy causes substantial maternal and infant morbidity and mortality. In Colombia, both P. falciparum and P. vivax are endemic, but the impact of either species on pregnancy is largely unknown in this country. A cross-sectional study was carried out with 96 pregnant women who delivered at their local hospital. Maternal, placental, and cord blood were tested for malaria infection by microscopy and real-time quantitative polymerase chain reaction (qPCR). A high frequency of infection was detected by qPCR (45%). These infections had low concentrations of parasite DNA, and 79% were submicroscopic. Submicroscopic infections were associated with placental villitis and intervillitis. In conclusion, the overall frequency of Plasmodium infection at delivery in Colombia is much higher than previously reported. These data prompt a re-examination of the local epidemiology of malaria using molecular diagnostics to establish the clinical relevance of submicroscopic infections during pregnancy as well as their consequences for mothers and newborns. PMID:23716408

  13. Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome

    Science.gov (United States)

    Pinter, Stefan F.; Colognori, David; Beliveau, Brian J.; Sadreyev, Ruslan I.; Payer, Bernhard; Yildirim, Eda; Wu, Chao-ting; Lee, Jeannie T.

    2015-01-01

    In mammals, several classes of monoallelic genes have been identified, including those subject to X-chromosome inactivation (XCI), genomic imprinting, and random monoallelic expression (RMAE). However, the extent to which these epigenetic phenomena are influenced by underlying genetic variation is unknown. Here we perform a systematic classification of allelic imbalance in mouse hybrids derived from reciprocal crosses of divergent strains. We observe that deviation from balanced biallelic expression is common, occurring in ∼20% of the mouse transcriptome in a given tissue. Allelic imbalance attributed to genotypic variation is by far the most prevalent class and typically is tissue-specific. However, some genotype-based imbalance is maintained across tissues and is associated with greater genetic variation, especially in 5′ and 3′ termini of transcripts. We further identify novel random monoallelic and imprinted genes and find that genotype can modify penetrance of parental origin even in the setting of large imprinted regions. Examination of nascent transcripts in single cells from inbred parental strains reveals that genes showing genotype-based imbalance in hybrids can also exhibit monoallelic expression in isogenic backgrounds. This surprising observation may suggest a competition between alleles and/or reflect the combined impact of cis- and trans-acting variation on expression of a given gene. Our findings provide novel insights into gene regulation and may be relevant to human genetic variation and disease. PMID:25858912

  14. Ocean heat content and Earth's radiation imbalance

    International Nuclear Information System (INIS)

    Douglass, David H.; Knox, Robert S.

    2009-01-01

    Earth's radiation imbalance is determined from ocean heat content data and compared with results of direct measurements. Distinct time intervals of alternating positive and negative values are found: 1960-mid-1970s (-0.15), mid-1970s-2000 (+0.15), 2001-present (-0.2 W/m 2 ), and are consistent with prior reports. These climate shifts limit climate predictability.

  15. Flywheels Would Compensate for Rotor Imbalance

    Science.gov (United States)

    Hrastar, J. A. S.

    1982-01-01

    Spinning flywheels within rotor can null imbalance forces in rotor. Flywheels axes are perpendicular to each other and to rotor axis. Feedback signals from accelerometers or strain gages in platform control flywheel speeds and rotation directions. Concept should be useful for compensating rotating bodies on Earth. For example, may be applied to large industrial centrifuge, particularly if balance changes during operation.

  16. Evaluation of electrolyte imbalance among tuberculosis patients ...

    African Journals Online (AJOL)

    Adebimpe Wasiu Olalekan

    2015-02-24

    Feb 24, 2015 ... a Department of Community Medicine, College of Health Sciences, Osun State University Osogbo, ... trolyte imbalance among TB patients receiving treatments. ... mental organizations whose presence could be felt in the areas ... anti tuberculous drugs with 11 males and 09 females. ... workers in the facility.

  17. Sub-Microscopic Organization and Functional Properties of Cells Stored in a Bank for Frozen Leucocytes and Platelets

    Energy Technology Data Exchange (ETDEWEB)

    Vinograd-Finkel, F. R.; Terentieva, E. I.; Leontovich, V. A.; Skopina, S. B.; Abezgauz, N. N.; Totskaya, A. A. [Central Institute of Haematology and Blood Transfusion, Moscow, USSR (Russian Federation)

    1969-07-15

    Massive transfusions of leucocyte mass containing young and stem cells in addition to adult cells are carried out successfully in the treatment of patients suffering from depressed haemopoiesis. To meet the needs of clinics a leucocyte mass bank-has been established and methods have been developed for the long-term storage of leucocyte mass by keeping it in the frozen state at -196 Degree-Sign C. Various carrier solutions containing cryoprotective substances (dimethylsulphoxide, glycerine, polyvinyl pyrrolidone) have been proposed. These make it possible to conserve from 70 to 90% of live cells for as long as two years or more. The viability of the frozen cells is proved by supravital staining and luminescent microscopy, and also by determining the extent to which their functional properties are preserved, the phagocytic activity of the granulocytes and the ability of the lymphocytes to produce young forms in tissue culture. It has also been observed that their glycolytic activity is preserved (up to 60%). All these data correlate with the data obtained by electron microscopy regarding the extent to which the sub-microscopic organization of frozen leucocytes is preserved. The bank is also used to store a frozen platelet mass, dimethylsulphoxide being used as the cryoprotective agent. The ultrastructure of the platelets and their functional properties (retractile activity) suffer least impairment. (author)

  18. [Submicroscopic changes in ciliated cells of the epithelium of the oviduct in cows during the estrus cycle].

    Science.gov (United States)

    Uhrín, V; Kliment, J

    1983-03-01

    The submicroscopic changes in the ciliary cells of the ampullar part of oviduct are of qualitative as well as quantitative nature. The mitochondria are mainly located in the supranuclear region. They are small, having densely arranged lamelliform cristae and dense matrix. They have the largest volume in metoestrus and the highest number and the largest surface already during oestrus. The volume and surface of granular endoplasmic reticulum culminates already during pro-oestrus. The reticulum occurs mainly over the nucleus where it produces tubuli densely covered with ribosomes which begin to dilate already during pro-oestrus. The Golgi apparatus and the membranes of smooth reticulum are poorly developed and their quantitative changes during the cycle are not significant. Various forms of lysosomes, whose volume reaches its maximum in dioestrus and during pro-oestrus, constitute a constant component of cytoplasm. Secretory granules occur only rarely in these cells. Kinocilia grow from the basal corpuscles and are more frequent on cells with a light cytoplasm. Higher-density cells have more micro-villi between kinocilia. Deciliation with the disintegration of membrane, filaments and often also the basal corpuscles is observed during metoestrus and at the beginning of dioestrus. Reciliation begins with the formation of basal corpuscles and their replication at the end of dioestrus and in pro-oestrus. The frequency of ciliary regeneration is comparatively small.

  19. Mitotic chromosome structure

    International Nuclear Information System (INIS)

    Heermann, Dieter W.

    2012-01-01

    Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

  20. Mitotic chromosome structure

    Energy Technology Data Exchange (ETDEWEB)

    Heermann, Dieter W., E-mail: heermann@tphys.uni-heidelberg.de

    2012-07-15

    Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

  1. Purifying Selection Maintains Dosage-Sensitive Genes during Degeneration of the Threespine Stickleback Y Chromosome

    Science.gov (United States)

    White, Michael A.; Kitano, Jun; Peichel, Catherine L.

    2015-01-01

    Sex chromosomes are subject to unique evolutionary forces that cause suppression of recombination, leading to sequence degeneration and the formation of heteromorphic chromosome pairs (i.e., XY or ZW). Although progress has been made in characterizing the outcomes of these evolutionary processes on vertebrate sex chromosomes, it is still unclear how recombination suppression and sequence divergence typically occur and how gene dosage imbalances are resolved in the heterogametic sex. The threespine stickleback fish (Gasterosteus aculeatus) is a powerful model system to explore vertebrate sex chromosome evolution, as it possesses an XY sex chromosome pair at relatively early stages of differentiation. Using a combination of whole-genome and transcriptome sequencing, we characterized sequence evolution and gene expression across the sex chromosomes. We uncovered two distinct evolutionary strata that correspond with known structural rearrangements on the Y chromosome. In the oldest stratum, only a handful of genes remain, and these genes are under strong purifying selection. By comparing sex-linked gene expression with expression of autosomal orthologs in an outgroup, we show that dosage compensation has not evolved in threespine sticklebacks through upregulation of the X chromosome in males. Instead, in the oldest stratum, the genes that still possess a Y chromosome allele are enriched for genes predicted to be dosage sensitive in mammals and yeast. Our results suggest that dosage imbalances may have been avoided at haploinsufficient genes by retaining function of the Y chromosome allele through strong purifying selection. PMID:25818858

  2. BAC CGH-array identified specific small-scale genomic imbalances in diploid DMBA-induced rat mammary tumors

    International Nuclear Information System (INIS)

    Samuelson, Emma; Karlsson, Sara; Partheen, Karolina; Nilsson, Staffan; Szpirer, Claude; Behboudi, Afrouz

    2012-01-01

    Development of breast cancer is a multistage process influenced by hormonal and environmental factors as well as by genetic background. The search for genes underlying this malignancy has recently been highly productive, but the etiology behind this complex disease is still not understood. In studies using animal cancer models, heterogeneity of the genetic background and environmental factors is reduced and thus analysis and identification of genetic aberrations in tumors may become easier. To identify chromosomal regions potentially involved in the initiation and progression of mammary cancer, in the present work we subjected a subset of experimental mammary tumors to cytogenetic and molecular genetic analysis. Mammary tumors were induced with DMBA (7,12-dimethylbenz[a]anthrazene) in female rats from the susceptible SPRD-Cu3 strain and from crosses and backcrosses between this strain and the resistant WKY strain. We first produced a general overview of chromosomal aberrations in the tumors using conventional kartyotyping (G-banding) and Comparative Genome Hybridization (CGH) analyses. Particular chromosomal changes were then analyzed in more details using an in-house developed BAC (bacterial artificial chromosome) CGH-array platform. Tumors appeared to be diploid by conventional karyotyping, however several sub-microscopic chromosome gains or losses in the tumor material were identified by BAC CGH-array analysis. An oncogenetic tree analysis based on the BAC CGH-array data suggested gain of rat chromosome (RNO) band 12q11, loss of RNO5q32 or RNO6q21 as the earliest events in the development of these mammary tumors. Some of the identified changes appear to be more specific for DMBA-induced mammary tumors and some are similar to those previously reported in ACI rat model for estradiol-induced mammary tumors. The later group of changes is more interesting, since they may represent anomalies that involve genes with a critical role in mammary tumor development. Genetic

  3. Education in the imbalance of Nature

    Science.gov (United States)

    Shlafman, L. M.; Kontar, V. A.

    2013-12-01

    There are two concepts understanding of the real Nature: balanced and imbalanced. The traditional balanced concept understanding of Nature was originated in prehistoric times to calm the frightened souls of prehistoric man and manage groups of people. The balanced concept presupposes that Nature is isotropic, balanced, etc. The balanced concept of understanding of Nature gradually has moved to science and technology. The balanced concept of understanding of Nature is dominating from the prehistoric time up to today. But always parallel and opposite was exists the concept imbalanced understanding of Nature, which presupposes that Nature is anisotropy, imbalanced, etc. The balanced concept is much simpler than Imbalanced. The balanced concept has given mankind a lot of rough description of Nature which helped to solve a lot of practical problems but with sufficient accuracy, i.e. approximately, but not with an absolute precision. While people were few, and a lot of resources, person could take from Nature only what Nature gave willingly. During this period, people feared and respected Nature and Nature was able easily compensate the activity of people. The high accuracy of the description of Nature was not needed when resources were plentiful and people were few. But now the situation is completely different. The population has become a very large and growing. Traditional resources are almost run out and the lack of resources escalates. People are not afraid of Nature and bravely try to take by force what Nature does not give voluntarily. People invaded into imbalance Nature, and Nature can no longer compensate activity of people. The era of global change is started, including those that man provokes. In the conditions of global changes is insufficiently of the approximate solutions of the traditional balanced concept. The balanced concept is exhausted, and increasingly misleads people. The balanced concept cannot solve the problems that arise in the global change

  4. Chromosomal aberrations in benign and malignant Bilharzia-associated bladder lesions analyzed by comparative genomic hybridization

    International Nuclear Information System (INIS)

    Fadl-Elmula, Imad; Kytola, Soili; Leithy, Mona EL; Abdel-Hameed, Mohamed; Mandahl, Nils; Elagib, Atif; Ibrahim, Muntaser; Larsson, Catharina; Heim, Sverre

    2002-01-01

    Bilharzia-associated bladder cancer (BAC) is a major health problem in countries where urinary schistosomiasis is endemic. Characterization of the genetic alterations in this cancer might enhance our understanding of the pathogenic mechanisms of the disease but, in contrast to nonbilharzia bladder cancer, BAC has rarely been the object of such scrutiny. In the present study, we aimed to characterize chromosomal imbalances in benign and malignant post-bilharzial lesions, and to determine whether their unique etiology yields a distinct cytogenetic profile as compared to chemically induced bladder tumors. DNAs from 20 archival paraffin-embedded post-bilharzial bladder lesions (6 benign and 14 malignant) obtained from Sudanese patients (12 males and 8 females) with a history of urinary bilharziasis were investigated for chromosomal imbalances using comparative genomic hybridization (CGH). Subsequent FISH analysis with pericentromeric probes was performed on paraffin sections of the same cases to confirm the CGH results. Seven of the 20 lesions (6 carcinomas and one granuloma) showed chromosomal imbalances varying from 1 to 6 changes. The most common chromosomal imbalances detected were losses of 1p21-31, 8p21-pter, and 9p and gain of 19p material, seen in three cases each, including the benign lesion. Most of the detected imbalances have been repeatedly reported in non-bilharzial bladder carcinomas, suggesting that the cytogenetic profiles of chemical- and bilharzia-induced carcinomas are largely similar. However, loss of 9p seems to be more ubiquitous in BAC than in bladder cancer in industrialized countries

  5. Muscular Imbalance Correction in the Power Fitness Training

    OpenAIRE

    Olga E. Aftimichuk; Alexander V. Varvarich

    2013-01-01

    Muscular imbalance is one of the manifestations of pathological-biomechanical changes in muscular-skeletal system. It is the result of tonus-power imbalance of short and relaxed muscles. Muscle shortening is the most striking sign of muscular imbalance. Hypodynamia and passive lifestyle can cause such results. The paper justifies the experimental technique of women muscular imbalances correction by means of power training. Selection of exercises, weights and machines was made, taking into acc...

  6. Bomb radiocarbon: imbalance in the budget

    International Nuclear Information System (INIS)

    Joos, Fortunat

    1994-01-01

    An improved understanding of the global carbon cycle is crucial to global climate change research. The uncertainties surrounding the level of oceanic carbon uptake are discussed. A revision downwards of 25% in the currently accepted figure is suggested by authors who base their estimates on a new analysis of the oceanic uptake of radiocarbon released in the atomic bomb tests of the late 1950s and early 1960s. The reduction in uptake level is required to take account of a global imbalance in the bomb-radiocarbon budget in the post test-ban period which emerges from recent carbon-cycle models. Large uncertainties exist in the estimate of the imbalance, however, and bomb-radiocarbon and anthropogenic CO 2 do not behave identically. Any revision of CO 2 uptake estimates may be substantially smaller than the 25% put forward for the bomb-radiocarbon inventory. (UK)

  7. Imbalance in the Local Galactic halo?

    International Nuclear Information System (INIS)

    Croswell, K.; Latham, D.W.; Carney, B.W.; North Carolina Univ., Chapel Hill)

    1987-01-01

    In a kinematically biased sample of 119 single halo stars, 65 percent of the stars are traveling away from the plane of the Galaxy. Halo spectroscopic binaries do not show this imbalance. Other kinematically biased halo surveys exhibit the same effect. Combining these samples with those of the authors' results in 223 halo stars, 63 percent of which are heading away from the plane of the Galaxy. The probability that the first result could be obtained from a symmetric w velocity distribution is 0.2 percent; the probability that the second result could be so obtained is 0.02 percent. Single halo stars traveling away from the disk appear to have a larger w velocity dispersion than those traveling toward it. Selection effects are analyzed and rejected as the cause of the observed asymmetry. Possible mechanisms for producing the imbalance are discussed, but each has serious difficulties accounting for the observations. 28 references

  8. Fiscal Imbalances, Poverty and Inequality in Pakistan

    OpenAIRE

    Irfan Ullah - Naimatullah Baber

    2014-01-01

    This paper has analyzed the fiscal imbalances, poverty and inequality with relevance to Pakistan. We use time series data from 1981 to 2010 and employ Autoregressive Distributed Lag Model (ARDL) to cointegration for estimation. The empirical findings suggest that fiscal deficits increase the poverty level and provide biases for inequality. Since deficit is financed through money supply, government debt and indirect taxes which threaten the purchasing power of the poor and drag them towards po...

  9. Population imbalance as a vortex catalyst in Fermi superfluids

    International Nuclear Information System (INIS)

    Tempere, J.; Devreese, J.T.

    2008-01-01

    Pairing leads to superfluidity in ultracold atomic gases, but this pairing can be frustrated when a population imbalance is present between the pairing partners. Here we investigate how vortices in the fermionic superfluid are affected by imbalance. We show that the vortex core radius is increased by imbalance, accommodating excess component atoms. This has two intriguing consequences. Firstly, a small imbalance acts as a catalyst for vortex formation, decreasing the critical rotation frequency. Secondly, imbalanced gases near critical imbalance can exhibit rotationally induced superfluidity

  10. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

  11. Chromosome painting in plants.

    NARCIS (Netherlands)

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.

    2001-01-01

    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in

  12. The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.

    Science.gov (United States)

    Sims, K B; Lebo, R V; Benson, G; Shalish, C; Schuback, D; Chen, Z Y; Bruns, G; Craig, I W; Golbus, M S; Breakefield, X O

    1992-05-01

    Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation. This disease gene was previously linked to the DXS7 (L1.28) locus and the MAO genes in band Xp11.3. We report here fine physical mapping of the obligate region containing the Norrie disease gene (NDP) defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease identified to date. Analysis, using in addition two overlapping YAC clones from this region, allowed orientation of the MAOA and MAOB genes in a 5'-3'-3'-5' configuration. A recombination event between a (GT)n polymorphism in intron 2 of the MAOB gene and the NDP locus, in a family previously reported to have a recombination between DXS7 and NDP, delineates a flanking marker telomeric to this disease gene. An anonymous DNA probe, dc12, present in one of the YACs and in a patient with a submicroscopic deletion which includes MAOA and MAOB but not L1.28, serves as a flanking marker centromeric to the disease gene. An Alu-PCR fragment from the right arm of the MAO YAC (YMAO.AluR) is not deleted in this patient and also delineates the centromeric extent of the obligate disease region. The apparent order of these loci is telomere ... DXS7-MAOA-MAOB-NDP-dc12-YMAO.AluR ... centromere. Together these data define the obligate region containing the NDP gene to a chromosomal segment less than 150 kb.

  13. Operating a redox flow battery with a negative electrolyte imbalance

    Science.gov (United States)

    Pham, Quoc; Chang, On; Durairaj, Sumitha

    2015-03-31

    Loss of flow battery electrode catalyst layers during self-discharge or charge reversal may be prevented by establishing and maintaining a negative electrolyte imbalance during at least parts of a flow battery's operation. Negative imbalance may be established and/or maintained actively, passively or both. Actively establishing a negative imbalance may involve detecting an imbalance that is less negative than a desired threshold, and processing one or both electrolytes until the imbalance reaches a desired negative level. Negative imbalance may be effectively established and maintained passively within a cell by constructing a cell with a negative electrode chamber that is larger than the cell's positive electrode chamber, thereby providing a larger quantity of negative electrolyte for reaction with positive electrolyte.

  14. rDNA genetic imbalance and nucleolar chromatin restructuring is induced by distant hybridization between Raphanus sativus and Brassica alboglabra.

    Directory of Open Access Journals (Sweden)

    Hong Long

    Full Text Available The expression of rDNA in hybrids inherited from only one progenitor refers to nucleolar dominance. The molecular basis for choosing which genes to silence remains unclear. We report genetic imbalance induced by distant hybridization correlates with formation of rDNA genes (NORs in the hybrids between Raphanus sativus L. and Brassica alboglabra Bailey. Moreover, increased CCGG methylation of rDNA in F1 hybrids is concomitant with Raphanus-derived rDNA gene silencing and rDNA transcriptional inactivity revealed by nucleolar configuration restriction. Newly formed rDNA gene locus occurred through chromosomal in F1 hybrids via chromosomal imbalance. NORs are gained de novo, lost, and/or transposed in the new genome. Inhibition of methyltransferases leads to changes in nucleolar architecture, implicating a key role of methylation in control of nucleolar dominance and vital nucleolar configuration transition. Our findings suggest that gene imbalance and methylation-related chromatin restructuring is important for rDNA gene silencing that may be crucial for synthesis of specific proteins.

  15. 多囊性肾发育不良胎儿的染色体微阵列分析%Application of chromosome microarray analysis for fetuses with multicystic dysplastic kidney

    Institute of Scientific and Technical Information of China (English)

    陈斐斐; 潘敏; 廖灿; 雷婷缨; 符芳; 李茹; 张永玲; 景象一; 杨昕; 韩瑾; 甄理

    2016-01-01

    included two well-known microdeletion or microduplication syndromes,i.e., 1 7q12 microdeletion syndrome and Williams-Beuren syndrome (WBS)and three submicroscopic imbalances at 4q35.2,22q13.33,and 1p33.PEX26,FKBP6,TUBGCP6,ALG12,and CYP4A1 1 are likely the causative genes. Conclusion CMA can identify the submicroscopic imbalances unidentifiable by conventional cytogenetic technique,and therefore has a significant role in prenatal diagnosis and genetic counseling.The detection rate of pathogenic CNVs in fetuses with MCDK was 1 6.7% by CMA.1 7q12 microdeletion syndrome and WBS are associated with MCDK.Mutations of PEX26,FKBP6,TUBGCP6, ALG12,and CYP4A1 1 genes may be the causes for MCDK.

  16. Mechanism for Corrective Action on Budget Imbalances

    Directory of Open Access Journals (Sweden)

    Ion Lucian CATRINA

    2014-02-01

    Full Text Available The European Fiscal Compact sets the obligation for the signatory states to establish an automatic mechanism for taking corrective action on budget imbalances. Nevertheless, the European Treaty says nothing about the tools that should be used in order to reach the desired equilibrium of budgets, but only that it should aim at correcting deviations from the medium-term objective or the adjustment path, including their cumulated impact on government debt dynamics. This paper is aiming at showing that each member state has to build the correction mechanism according to the impact of the chosen tools on economic growth and on general government revenues. We will also emphasize that the correction mechanism should be built not only exacerbating the corrective action through spending/ tax based adjustments, but on a high quality package of economic policies as well.

  17. Chromosomal Evolution in Chiroptera.

    Science.gov (United States)

    Sotero-Caio, Cibele G; Baker, Robert J; Volleth, Marianne

    2017-10-13

    Chiroptera is the second largest order among mammals, with over 1300 species in 21 extant families. The group is extremely diverse in several aspects of its natural history, including dietary strategies, ecology, behavior and morphology. Bat genomes show ample chromosome diversity (from 2n = 14 to 62). As with other mammalian orders, Chiroptera is characterized by clades with low, moderate and extreme chromosomal change. In this article, we will discuss trends of karyotypic evolution within distinct bat lineages (especially Phyllostomidae, Hipposideridae and Rhinolophidae), focusing on two perspectives: evolution of genome architecture, modes of chromosomal evolution, and the use of chromosome data to resolve taxonomic problems.

  18. Chromosomal Evolution in Chiroptera

    Directory of Open Access Journals (Sweden)

    Cibele G. Sotero-Caio

    2017-10-01

    Full Text Available Chiroptera is the second largest order among mammals, with over 1300 species in 21 extant families. The group is extremely diverse in several aspects of its natural history, including dietary strategies, ecology, behavior and morphology. Bat genomes show ample chromosome diversity (from 2n = 14 to 62. As with other mammalian orders, Chiroptera is characterized by clades with low, moderate and extreme chromosomal change. In this article, we will discuss trends of karyotypic evolution within distinct bat lineages (especially Phyllostomidae, Hipposideridae and Rhinolophidae, focusing on two perspectives: evolution of genome architecture, modes of chromosomal evolution, and the use of chromosome data to resolve taxonomic problems.

  19. Sex chromosome repeats tip the balance towards speciation.

    Science.gov (United States)

    O'Neill, Michael J; O'Neill, Rachel J

    2018-04-06

    Because sex chromosomes, by definition, carry genes that determine sex, mutations that alter their structural and functional stability can have immediate consequences for the individual by reducing fertility, but also for a species by altering the sex ratio. Moreover, the sex-specific segregation patterns of heteromorphic sex chromosomes make them havens for selfish genetic elements that not only create sub-optimal sex ratios, but can also foster sexual antagonism. Compensatory mutations to mitigate antagonism or return sex ratios to a Fisherian optimum can create hybrid incompatibility and establish reproductive barriers leading to species divergence. The destabilizing influence of these selfish elements is often manifest within populations as copy number variants (CNVs) in satellite repeats and transposable elements (TE) or as CNVs involving sex determining genes, or genes essential to fertility and sex chromosome dosage compensation. This review catalogs several examples of well-studied sex chromosome CNVs in Drosophilids and mammals that underlie instances of meiotic drive, hybrid incompatibility and disruptions to sex differentiation and sex chromosome dosage compensation. While it is difficult to pinpoint a direct cause/effect relationship between these sex chromosome CNVs and speciation, it is easy to see how their effects in creating imbalances between the sexes, and the compensatory mutations to restore balance, can lead to lineage splitting and species formation. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  20. Sub-microscopic malaria cases and mixed malaria infection in a remote area of high malaria endemicity in Rattanakiri province, Cambodia: implication for malaria elimination

    Directory of Open Access Journals (Sweden)

    Socheat Duong

    2010-04-01

    Full Text Available Abstract Background Malaria microscopy and rapid diagnostic tests are insensitive for very low-density parasitaemia. This insensitivity may lead to missed asymptomatic sub-microscopic parasitaemia, a potential reservoir for infection. Similarly, mixed infections and interactions between Plasmodium species may be missed. The objectives were first to develop a rapid and sensitive PCR-based diagnostic method to detect low parasitaemia and mixed infections, and then to investigate the epidemiological importance of sub-microscopic and mixed infections in Rattanakiri Province, Cambodia. Methods A new malaria diagnostic method, using restriction fragment length polymorphism analysis of the cytochrome b genes of the four human Plasmodium species and denaturing high performance liquid chromatography, has been developed. The results of this RFLP-dHPLC method have been compared to 1 traditional nested PCR amplification of the 18S rRNA gene, 2 sequencing of the amplified fragments of the cytochrome b gene and 3 microscopy. Blood spots on filter paper and Giemsa-stained blood thick smears collected in 2001 from 1,356 inhabitants of eight villages of Rattanakiri Province have been analysed by the RFLP-dHPLC method and microscopy to assess the prevalence of sub-microscopic and mixed infections. Results The sensitivity and specificity of the new RFLP-dHPLC was similar to that of the other molecular methods. The RFLP-dHPLC method was more sensitive and specific than microscopy, particularly for detecting low-level parasitaemia and mixed infections. In Rattanakiri Province, the prevalences of Plasmodium falciparum and Plasmodium vivax were approximately two-fold and three-fold higher, respectively, by RFLP-dHPLC (59% and 15%, respectively than by microscopy (28% and 5%, respectively. In addition, Plasmodium ovale and Plasmodium malariae were never detected by microscopy, while they were detected by RFLP-dHPLC, in 11.2% and 1.3% of the blood samples, respectively

  1. Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.

    Science.gov (United States)

    Bernardini, Laura; Sinibaldi, Lorenzo; Ceccarini, Caterina; Novelli, Antonio; Dallapiccola, Bruno

    2005-04-01

    Mosaic autosomal duplications are rare and often result in mental retardation and congenital anomalies. Phenotype is not predictable depending on the chromosomal imbalance involved and the percentage and tissues distribution of unbalanced cells. We report on a young woman carrying a mosaic duplication of chromosome 4p, evaluated because of three abortions due to IUGR and fetal malformation. Mosaic dup(4p) was detected by standard and molecular cytogenetics. Unbalanced cells accounted for about 20 to 30% of nuclei in four examined tissues and did not cause any obvious phenotypic effect. It is likely that mosaic duplications are underascertained because they are not associated with obvious clinical effects in some individuals. Prenatal diagnosis is the method of choice to predict the karyotype in the offspring of subjects carrying mosaic chromosome imbalances.

  2. THE ROLE OF IONORGANIC ION IMBALANCE IN AQUATIC TOXICITY TESTING

    Science.gov (United States)

    This paper assessess the issue of ion imbalance, provides summary of applicable data, presents several successful technical tools to address toxicity resulting from salinity and ion imbalances, and discusses regulatory/compliance options to manage discharges with salinity/ion imb...

  3. Covariate Imbalance and Precision in Measuring Treatment Effects

    Science.gov (United States)

    Liu, Xiaofeng Steven

    2011-01-01

    Covariate adjustment can increase the precision of estimates by removing unexplained variance from the error in randomized experiments, although chance covariate imbalance tends to counteract the improvement in precision. The author develops an easy measure to examine chance covariate imbalance in randomization by standardizing the average…

  4. Effort reward imbalance, and salivary cortisol in the morning

    DEFF Research Database (Denmark)

    Eller, Nanna Hurwitz; Nielsen, Søren Feodor; Blønd, Morten

    2012-01-01

    Effort reward imbalance (ERI) is suggested to increase risk for stress and is hypothesized to increase cortisol levels, especially the awakening cortisol response, ACR.......Effort reward imbalance (ERI) is suggested to increase risk for stress and is hypothesized to increase cortisol levels, especially the awakening cortisol response, ACR....

  5. Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: Fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Worley, K.C.; Lindsay, E.A.; McCabe, E.R.B. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1995-07-17

    Diagnosis of X-chromosomal microdeletions has relied upon the traditional methods of Southern blotting and DNA amplification, with carrier identification requiring time-consuming and unreliable dosage calculations. In this report, we describe rapid molecular cytogenetic identification of deleted DNA in affected males with the Xp21 contiguous gene syndrome (complex glycerol kinase deficiency, CGKD) and female carriers for this disorder. CGKD deletions involve the genes for glycerol kinase, Duchenne muscular dystrophy, and/or adrenal hypoplasia congenita. We report an improved method for diagnosis of deletions in individuals with CGKD and for identification of female carriers within their families using fluorescence in situ hybridization (FISH) with a cosmid marker (cosmid 35) within the glycerol kinase gene. When used in combination with an Xq control probe, affected males demonstrate a single signal from the control probe, while female carriers demonstrate a normal chromosome with two signals, as well as a deleted chromosome with a single signal from the control probe. FISH analysis for CGKD provides the advantages of speed and accuracy for evaluation of submicroscopic X-chromosome deletions, particularly in identification of female carriers. In addition to improving carrier evaluation, FISH will make prenatal diagnosis of CGKD more readily available. 17 refs., 2 figs.

  6. Discrimination of chromosome by autoradiography

    International Nuclear Information System (INIS)

    Masubuchi, Masanori

    1975-01-01

    This paper describes discrimination of chromosome by autoradiography. In this method, the difference in DNA synthetic phase between each chromosome was used as a standard, and the used chromosome was in metaphase, as morphological characteristics were markedly in this phase. Cell cycle and autoradiography with 3 H-thymidine were also examined. In order to discriminate chromosome by autoradiography, it was effective to utilize the labelled pattern in late DNA synthetic phase, where asynchronous replication of chromosome appeared most obviously. DNA synthesis in chromosome was examined in each DNA synthetic phase by culturing the chromosome after the treatment with 3 H-thymidine and altering the time to prepare chromosome specimen. Discrimination of chromosome in plants and animals by autoradiography was also mentioned. It was noticed as a structural and functional discrimination of chromosome to observe amino acid uptake into chromosome protein and to utilize the difference in labelled pattern between the sites of chromosome. (K. Serizawa)

  7. Fetal chromosome analysis

    DEFF Research Database (Denmark)

    Philip, J; Tabor, A; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

  8. Current account imbalances in the euro area

    Directory of Open Access Journals (Sweden)

    Klára Plecitá

    2013-01-01

    Full Text Available While the current account balance for the euro area as a whole has been in balance, divergences in current account positions among the euro-area members have widened since the introduction of the common currency euro. During the last 13 years Portugal, Greece and Spain have run large and persistent current account deficits, whereas Luxembourg, the Netherlands, Finland or Germany have displayed during the same period large and persistent surpluses. However, there is no unambiguous agreement among economists, whether this divergence of current account positions of the euro-area countries mirrors growing intra-euro-area imbalances (Gros, 2012 or just reflects proper functioning of the European integration process (Schmitz and von Hagen, 2009. Therefore, the aim of this paper is to estimate equilibrium current account position for each of the original 12 euro area countries so that it is possible to assess whether the divergence of intra-euro current account balances could be explained on the basis of economic fundamentals or it just reflects misallocation of resources and thus macroeconomic imbalances. The equilibrium current account balance is estimated using a panel-econometric technique for a sample of 30 industrial countries, which represent euro-area member states and their main business partners, over the period 1993–2011. Economic fundamentals affecting the equilibrium current account position are selected on the basis of the saving-investment balance, the trade balance and the net income balance, to ensure that we take into an account all theoretically important explanatory variables. We find that the main determinants of current account norms in our sample are fiscal balance, a country’s net international investment position, oil balance and a country’s stage of economic development. The major part of the euro-area countries exhibits current account positions close to their equilibrium levels with the exception of the Netherlands and

  9. Cardiac angiogenic imbalance leads to peripartum cardiomyopathy.

    Science.gov (United States)

    Patten, Ian S; Rana, Sarosh; Shahul, Sajid; Rowe, Glenn C; Jang, Cholsoon; Liu, Laura; Hacker, Michele R; Rhee, Julie S; Mitchell, John; Mahmood, Feroze; Hess, Philip; Farrell, Caitlin; Koulisis, Nicole; Khankin, Eliyahu V; Burke, Suzanne D; Tudorache, Igor; Bauersachs, Johann; del Monte, Federica; Hilfiker-Kleiner, Denise; Karumanchi, S Ananth; Arany, Zoltan

    2012-05-09

    Peripartum cardiomyopathy (PPCM) is an often fatal disease that affects pregnant women who are near delivery, and it occurs more frequently in women with pre-eclampsia and/or multiple gestation. The aetiology of PPCM, and why it is associated with pre-eclampsia, remain unknown. Here we show that PPCM is associated with a systemic angiogenic imbalance, accentuated by pre-eclampsia. Mice that lack cardiac PGC-1α, a powerful regulator of angiogenesis, develop profound PPCM. Importantly, the PPCM is entirely rescued by pro-angiogenic therapies. In humans, the placenta in late gestation secretes VEGF inhibitors like soluble FLT1 (sFLT1), and this is accentuated by multiple gestation and pre-eclampsia. This anti-angiogenic environment is accompanied by subclinical cardiac dysfunction, the extent of which correlates with circulating levels of sFLT1. Exogenous sFLT1 alone caused diastolic dysfunction in wild-type mice, and profound systolic dysfunction in mice lacking cardiac PGC-1α. Finally, plasma samples from women with PPCM contained abnormally high levels of sFLT1. These data indicate that PPCM is mainly a vascular disease, caused by excess anti-angiogenic signalling in the peripartum period. The data also explain how late pregnancy poses a threat to cardiac homeostasis, and why pre-eclampsia and multiple gestation are important risk factors for the development of PPCM.

  10. Golden Jubilee Photos: A Universal Imbalance

    CERN Multimedia

    2004-01-01

    http://www.cern.ch/cern50/ View along the NA48 beamline with the detector in the distance. No one is sure why the Universe wound up the way it has: all matter and no antimatter. According to prevailing theories, the early universe had equal amounts of matter and antimatter. However, whenever such opposites meet, they annihilate and become a burst of energy. This would seem to leave the Universe with neither matter nor antimatter - and thus no stars, planets, or physicists. If nature shows a bias for matter over antimatter, this could explain why the Universe is all matter. To see what might be missing from the theories, physicists search for the rare cases in which matter and antimatter behave differently. One such imbalance, called direct CP violation, showed up in the NA 31 experiment at CERN. The results from this experiment, first presented in 1993, showed that when K mesons and their antimatter cousins decay, they show a slight preference for matter over antimatter. Later experiments with neutral K mes...

  11. Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

    Science.gov (United States)

    DeScipio, Cheryl; Conlin, Laura; Rosenfeld, Jill; Tepperberg, James; Pasion, Romela; Patel, Ankita; McDonald, Marie T; Aradhya, Swaroop; Ho, Darlene; Goldstein, Jennifer; McGuire, Marianne; Mulchandani, Surabhi; Medne, Livija; Rupps, Rosemarie; Serrano, Alvaro H; Thorland, Erik C; Tsai, Anne C-H; Hilhorst-Hofstee, Yvonne; Ruivenkamp, Claudia A L; Van Esch, Hilde; Addor, Marie-Claude; Martinet, Danielle; Mason, Thornton B A; Clark, Dinah; Spinner, Nancy B; Krantz, Ian D

    2012-09-01

    We describe 19 unrelated individuals with submicroscopic deletions involving 10p15.3 characterized by chromosomal microarray (CMA). Interestingly, to our knowledge, only two individuals with isolated, submicroscopic 10p15.3 deletion have been reported to date; however, only limited clinical information is available for these probands and the deleted region has not been molecularly mapped. Comprehensive clinical history was obtained for 12 of the 19 individuals described in this study. Common features among these 12 individuals include: cognitive/behavioral/developmental differences (11/11), speech delay/language disorder (10/10), motor delay (10/10), craniofacial dysmorphism (9/12), hypotonia (7/11), brain anomalies (4/6) and seizures (3/7). Parental studies were performed for nine of the 19 individuals; the 10p15.3 deletion was de novo in seven of the probands, not maternally inherited in one proband and inherited from an apparently affected mother in one proband. Molecular mapping of the 19 individuals reported in this study has identified two genes, ZMYND11 (OMIM 608668) and DIP2C (OMIM 611380; UCSC Genome Browser), mapping within 10p15.3 which are most commonly deleted. Although no single gene has been identified which is deleted in all 19 individuals studied, the deleted region in all but one individual includes ZMYND11 and the deleted region in all but one other individual includes DIP2C. There is not a clearly identifiable phenotypic difference between these two individuals and the size of the deleted region does not generally predict clinical features. Little is currently known about these genes complicating a direct genotype/phenotype correlation at this time. These data however, suggest that ZMYND11 and/or DIP2C haploinsufficiency contributes to the clinical features associated with 10p15 deletions in probands described in this study. Copyright © 2012 Wiley Periodicals, Inc.

  12. Chromosomal Arrangement of Phosphorelay Genes Couples Sporulation and DNA Replication.

    Science.gov (United States)

    Narula, Jatin; Kuchina, Anna; Lee, Dong-Yeon D; Fujita, Masaya; Süel, Gürol M; Igoshin, Oleg A

    2015-07-16

    Genes encoding proteins in a common regulatory network are frequently located close to one another on the chromosome to facilitate co-regulation or couple gene expression to growth rate. Contrasting with these observations, here, we demonstrate a functional role for the arrangement of Bacillus subtilis sporulation network genes on opposite sides of the chromosome. We show that the arrangement of two sporulation network genes, one located close to the origin and the other close to the terminus, leads to a transient gene dosage imbalance during chromosome replication. This imbalance is detected by the sporulation network to produce cell-cycle coordinated pulses of the sporulation master regulator Spo0A∼P. This pulsed response allows cells to decide between sporulation and continued vegetative growth during each cell cycle spent in starvation. The simplicity of this coordination mechanism suggests that it may be widely applicable in a variety of gene regulatory and stress-response settings. VIDEO ABSTRACT. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Spatial-frequency dependent binocular imbalance in amblyopia.

    Science.gov (United States)

    Kwon, MiYoung; Wiecek, Emily; Dakin, Steven C; Bex, Peter J

    2015-11-25

    While amblyopia involves both binocular imbalance and deficits in processing high spatial frequency information, little is known about the spatial-frequency dependence of binocular imbalance. Here we examined binocular imbalance as a function of spatial frequency in amblyopia using a novel computer-based method. Binocular imbalance at four spatial frequencies was measured with a novel dichoptic letter chart in individuals with amblyopia, or normal vision. Our dichoptic letter chart was composed of band-pass filtered letters arranged in a layout similar to the ETDRS acuity chart. A different chart was presented to each eye of the observer via stereo-shutter glasses. The relative contrast of the corresponding letter in each eye was adjusted by a computer staircase to determine a binocular Balance Point at which the observer reports the letter presented to either eye with equal probability. Amblyopes showed pronounced binocular imbalance across all spatial frequencies, with greater imbalance at high compared to low spatial frequencies (an average increase of 19%, p imbalance may be useful for diagnosing amblyopia and as an outcome measure for recovery of binocular vision following therapy.

  14. CHROMOSOMES OF WOODY SPECIES

    Directory of Open Access Journals (Sweden)

    Julio R Daviña

    2000-01-01

    Full Text Available Chromosome numbers of nine subtropical woody species collected in Argentina and Paraguay are reported. The counts tor Coutarea hexandra (2n=52, Inga vera subsp. affinis 2n=26 (Fabaceae and Chorisia speciosa 2n=86 (Bombacaceae are reported for the first time. The chromosome number given for Inga semialata 2n=52 is a new cytotype different from the previously reported. Somatic chromosome numbers of the other taxa studied are: Sesbania punicea 2n=12, S. virgata 2n=12 and Pilocarpus pennatifolius 2n=44 from Argentina

  15. Meiotic recombination, synapsis, meiotic inactivation and sperm aneuploidy in a chromosome 1 inversion carrier.

    Science.gov (United States)

    Kirkpatrick, Gordon; Chow, Victor; Ma, Sai

    2012-01-01

    Disrupted meiotic behaviour of inversion carriers may be responsible for suboptimal sperm parameters in these carriers. This study investigated meiotic recombination, synapsis, transcriptional silencing and chromosome segregation effects in a pericentric inv(1) carrier. Recombination (MLH1), synapsis (SYCP1, SYCP3) and transcriptional inactivation (γH2AX, BRCA1) were examined by fluorescence immunostaining. Chromosome specific rates of recombination were determined by fluorescence in-situ hybridization. Furthermore, testicular sperm was examined for aneuploidy and segregation of the inv(1). Our findings showed that global recombination rates were similar to controls. Recombination on the inv(1) and the sex chromosomes were reduced. The inv(1) associated with the XY body in 43.4% of cells, in which XY recombination was disproportionately absent, and 94.3% of cells displayed asynapsed regions which displayed meiotic silencing regardless of their association with the XY body. Furthermore, a low frequency of chromosomal imbalance was observed in spermatozoa (3.4%). Our results suggest that certain inversion carriers may display unimpaired global recombination and impaired recombination on the involved and the sex chromosomes during meiosis. Asynapsis or inversion-loop formation in the inverted region may be responsible for impaired spermatogenesis and may prevent sperm-chromosome imbalance. Copyright © 2011 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  16. An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths.

    Science.gov (United States)

    Dória, Sofia; Carvalho, Filipa; Ramalho, Carla; Lima, Vera; Francisco, Tânia; Machado, Ana Paula; Brandão, Otília; Sousa, Mário; Matias, Alexandra; Barros, Alberto

    2009-12-01

    Characterization of chromosomal abnormalities in 232 spontaneous miscarriages or foetal deaths using both classical and molecular cytogenetics. Chromosomal abnormalities are responsible for 40-50% of all early pregnancy losses. Conventional cytogenetics is associated with 10-40% of culture failure. Comparative genomic hybridization (CGH) is a DNA-based technique that screens chromosome imbalances in the whole genome and may overcome this problem, although additional methods are required to distinguish between different ploidies, mosaicisms and maternal cell contamination. For a full characterization of chromosomal aberrations in 232 spontaneous miscarriages or foetal deaths we applied a sequential protocol that uses conventional cytogenetics, plus CGH and touch fluorescence in situ hybridization (Touch FISH). Successful karyotyping was obtained in 173/232 (74.6%) of the cases, 66/173 (38.2%) of which had an abnormal chromosomal complement. CGH and Touch FISH analyses revealed another 19 abnormal cases in the 63 failures of culture. Overall there were 85/233 (36.6%) cases with an abnormal chromosomal complement, with examples from all three trimesters. Comparing cases, with or without chromosomal abnormalities, no statistical differences were found between women with one or recurrent miscarriages. On the contrary, significant differences were found comparing mean maternal ages or mean gestational ages, in cases with or without chromosomes abnormalities. Adopting this sequential protocol, chromosomal complement information was available even in cases with culture failure.

  17. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  18. Chromosome condensation and segmentation

    International Nuclear Information System (INIS)

    Viegas-Pequignot, E.M.

    1981-01-01

    Some aspects of chromosome condensation in mammalians -humans especially- were studied by means of cytogenetic techniques of chromosome banding. Two further approaches were adopted: a study of normal condensation as early as prophase, and an analysis of chromosome segmentation induced by physical (temperature and γ-rays) or chemical agents (base analogues, antibiotics, ...) in order to show out the factors liable to affect condensation. Here 'segmentation' means an abnormal chromosome condensation appearing systematically and being reproducible. The study of normal condensation was made possible by the development of a technique based on cell synchronization by thymidine and giving prophasic and prometaphasic cells. Besides, the possibility of inducing R-banding segmentations on these cells by BrdU (5-bromodeoxyuridine) allowed a much finer analysis of karyotypes. Another technique was developed using 5-ACR (5-azacytidine), it allowed to induce a segmentation similar to the one obtained using BrdU and identify heterochromatic areas rich in G-C bases pairs [fr

  19. Chromosomal Evolution in Chiroptera

    OpenAIRE

    Sotero-Caio, Cibele G.; Baker, Robert J.; Volleth, Marianne

    2017-01-01

    Chiroptera is the second largest order among mammals, with over 1300 species in 21 extant families. The group is extremely diverse in several aspects of its natural history, including dietary strategies, ecology, behavior and morphology. Bat genomes show ample chromosome diversity (from 2n = 14 to 62). As with other mammalian orders, Chiroptera is characterized by clades with low, moderate and extreme chromosomal change. In this article, we will discuss trends of karyotypic evolution within d...

  20. AllelicImbalance: An R/ bioconductor package for detecting, managing, and visualizing allele expression imbalance data from RNA sequencing

    DEFF Research Database (Denmark)

    Gådin, Jesper R.; van't Hooft, Ferdinand M.; Eriksson, Per

    2015-01-01

    the possible biases. Results: We present AllelicImblance, a software program that is designed to detect, manage, and visualize allelic imbalances comprehensively. The purpose of this software is to allow users to pose genetic questions in any RNA sequencing experiment quickly, enhancing the general utility...... of RNA sequencing. The visualization features can reveal notable, non-trivial allelic imbalance behavior over specific regions, such as exons. Conclusions: The software provides a complete framework to perform allelic imbalance analyses of aligned RNA sequencing data, from detection to visualization...

  1. Micromechanics of human mitotic chromosomes

    International Nuclear Information System (INIS)

    Sun, Mingxuan; Kawamura, Ryo; Marko, John F

    2011-01-01

    Eukaryote cells dramatically reorganize their long chromosomal DNAs to facilitate their physical segregation during mitosis. The internal organization of folded mitotic chromosomes remains a basic mystery of cell biology; its understanding would likely shed light on how chromosomes are separated from one another as well as into chromosome structure between cell divisions. We report biophysical experiments on single mitotic chromosomes from human cells, where we combine micromanipulation, nano-Newton-scale force measurement and biochemical treatments to study chromosome connectivity and topology. Results are in accord with previous experiments on amphibian chromosomes and support the 'chromatin network' model of mitotic chromosome structure. Prospects for studies of chromosome-organizing proteins using siRNA expression knockdowns, as well as for differential studies of chromosomes with and without mutations associated with genetic diseases, are also discussed

  2. Hamstrings strength imbalance in professional football (soccer) players in Australia.

    Science.gov (United States)

    Ardern, Clare L; Pizzari, Tania; Wollin, Martin R; Webster, Kate E

    2015-04-01

    The aim of this study was to describe the isokinetic thigh muscle strength profile of professional male football players in Australia. Concentric (60° and 240°·s(-1)) and eccentric (30° and 120°·s(-1)) hamstrings and quadriceps isokinetic strength was measured with a HUMAC NORM dynamometer. The primary variables were bilateral concentric and eccentric hamstring and quadriceps peak torque ratios, concentric hamstring-quadriceps peak torque ratios, and mixed ratios (eccentric hamstring 30°·s(-1) ÷ concentric quadriceps 240°·s(-1)). Hamstring strength imbalance was defined as deficits in any 2 of: bilateral concentric hamstring peak torque ratio imbalance. Athletes with strength imbalance had significantly reduced concentric and eccentric bilateral hamstring peak torque ratios at all angular velocities tested; and reduced eccentric quadriceps peak torque (30°·s(-1)) in their stance leg, compared with those without strength imbalance. Approximately, 1 in 4 players had preseason hamstring strength imbalance; and all strength deficits were observed in the stance leg. Concentric and eccentric hamstrings strength imbalance may impact in-season football performance and could have implications for the future risk of injury.

  3. External Sector Rebalancing and Endogenous Trade Imbalance Models

    Directory of Open Access Journals (Sweden)

    John Whalley

    2012-12-01

    Full Text Available I discuss the need for trade models to incorporate endogenous trade imbalances both to more adequately capture the reality of a global economy with large imbalances and pressures from the financial crisis for countries to reduce imbalances. Conventional general equilibrium trade models implicitly incorporate monetary neutrality and either have zero trade balance as a property of equilibrium, or have a fixed and exogenous trade imbalance. Models which are discussed here have a variety of forms. In one, central banks fix exchange rates and operate a non accommodative monetary policy and accumulate reserves. Changes in both trade and monetary policies change reserve accumulative and with the external sector imbalances. This is a reflection of China’s current policy regime. In another intertemporal preferences allow for simultaneous inter commodity and intertemporal trade across countries, and with changed intertemporal trade changed external sector imbalances within the period. These formulations are each applied to potential tax initiatives to aid in rebalancing.

  4. A field trial of a PCR-based Mansonella ozzardi diagnosis assay detects high-levels of submicroscopic M. ozzardi infections in both venous blood samples and FTA? card dried blood spots

    OpenAIRE

    Medeiros, Jansen Fernandes; Almeida, Tatiana Amaral Pires; Silva, Lucyane Bastos Tavares; Rubio, Jose Miguel; Crainey, James Lee; Pessoa, Felipe Arley Costa; Luz, Sergio Luiz Bessa

    2015-01-01

    Background Mansonella ozzardi is a poorly understood human filarial parasite with a broad distribution throughout Latin America. Most of what is known about its parasitism has come from epidemiological studies that have estimated parasite incidence using light microscopy. Light microscopy can, however, miss lighter, submicroscopic, infections. In this study we have compared M. ozzardi incidence estimates made using light microscopy, with estimates made using PCR. Methods 214 DNA extracts made...

  5. Complex distal 10q rearrangement in a girl with mild intellectual disability: follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.

    Science.gov (United States)

    Sarri, Catherine; Douzgou, Sofia; Gyftodimou, Yolanda; Tümer, Zeynep; Ravn, Kirstine; Pasparaki, Angela; Sarafidou, Theologia; Kontos, Harry; Kokotas, Haris; Karadima, Georgia; Grigoriadou, Maria; Pandelia, Effie; Theodorou, Virginia; Moschonas, Nicholas K; Petersen, Michael B

    2011-11-01

    We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur on the short arms of acrocentric chromosomes; however, the literature cites several reports of satellited non-acrocentric chromosomes, which presumably result from a translocation with an acrocentric chromosome. This is, to our knowledge, the third report of a 10qs chromosome. The phenotype observed in the proband prompted a search for a structural rearrangement of chromosome 10q. By microsatellite analysis we observed a 4 Mb deletion on the long arm of chromosome 10, approximately 145 kb from the telomere. FISH and array CGH analyses revealed a complex rearrangement involving in range from the centromere to the telomere: A 9.64 Mb 10q26.11-q26.2 duplication, a 1.3 Mb region with no copy number change, followed by a 5.62 Mb 10q26.2-q26.3 deletion and a translocation of satellite material. The homology between the repeat sequences at 10q subtelomere region and the sequences on the acrocentric short arms may explain the origin of the rearrangement and it is likely that the submicroscopic microdeletion and microduplication are responsible for the abnormal phenotype in our patient. The patient presented here, with a 15-year follow-up, manifests a distinct phenotype different from the 10q26 pure distal monosomy and trisomy syndromes. Copyright © 2011 Wiley Periodicals, Inc.

  6. The shape of the iceberg: quantification of submicroscopic Plasmodium falciparum and Plasmodium vivax parasitaemia and gametocytaemia in five low endemic settings in Ethiopia.

    Science.gov (United States)

    Tadesse, Fitsum G; van den Hoogen, Lotus; Lanke, Kjerstin; Schildkraut, Jodie; Tetteh, Kevin; Aseffa, Abraham; Mamo, Hassen; Sauerwein, Robert; Felger, Ingrid; Drakeley, Chris; Gadissa, Endalamaw; Bousema, Teun

    2017-03-03

    The widespread presence of low-density asymptomatic infections with concurrent gametocytes may be a stumbling block for malaria elimination. This study investigated the asymptomatic reservoir of Plasmodium falciparum and Plasmodium vivax infections in schoolchildren from five settings in northwest Ethiopia. Two cross-sectional surveys were conducted in June and November 2015, enrolling 551 students from five schools and 294 students from three schools, respectively. Finger prick whole blood and plasma samples were collected. The prevalence and density of P. falciparum and P. vivax parasitaemia and gametocytaemia were determined by 18S rRNA quantitative PCR (qPCR) and pfs25 and pvs25 reverse transcriptase qPCR. Antibodies against blood stage antigens apical membrane antigen-1 (AMA-1) and merozoite surface protein-1 (MSP-1 19 ) were measured for both species. Whilst only 6 infections were detected by microscopy in 881 slides (0.7%), 107 of 845 blood samples (12.7%) were parasite positive by (DNA-based) qPCR. qPCR parasite prevalence between sites and surveys ranged from 3.8 to 19.0% for P. falciparum and 0.0 to 9.0% for P. vivax. The median density of P. falciparum infections (n = 85) was 24.4 parasites/µL (IQR 18.0-34.0) and the median density of P. vivax infections (n = 28) was 16.4 parasites/µL (IQR 8.8-55.1). Gametocyte densities by (mRNA-based) qRT-PCR were strongly associated with total parasite densities for both P. falciparum (correlation coefficient = 0.83, p = 0.010) and P. vivax (correlation coefficient = 0.58, p = 0.010). Antibody titers against P. falciparum AMA-1 and MSP-1 19 were higher in individuals who were P. falciparum parasite positive in both surveys (p < 0.001 for both comparisons). This study adds to the available evidence on the wide-scale presence of submicroscopic parasitaemia by quantifying submicroscopic parasite densities and concurrent gametocyte densities. There was considerable heterogeneity in the occurrence of P

  7. Vibrio chromosome-specific families

    DEFF Research Database (Denmark)

    Lukjancenko, Oksana; Ussery, David

    2014-01-01

    We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished...... chromosomes, we find a core set of 1269 encoded protein families for chromosome 1, and a core of 252 encoded protein families for chromosome 2. Many of these core proteins are also found in the draft genomes (although which chromosome they are located on is unknown.) Of the chromosome specific core protein...... families, 1169 and 153 are uniquely found in chromosomes 1 and 2, respectively. Gene ontology (GO) terms for each of the protein families were determined, and the different sets for each chromosome were compared. A total of 363 different "Molecular Function" GO categories were found for chromosome 1...

  8. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli

    2014-01-01

    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two...... chromosomes that results in formation of derivative chromosomes with a mixed DNA sequence. The method currently used for their detection is Fluorescent In Situ Hybridization, which requires a use of expensive, fluorescently labeled probes that target the derivative chromosomes. We present here a double...... hybridization approach developed for label-free detection of the chromosome translocations. For specific translocation detection it is necessary to determine that the two DNA sequences forming a derivative chromosome are connected, which is achieved by two subsequent hybridization steps. The electrochemical...

  9. Mutations and chromosomal aberrations

    International Nuclear Information System (INIS)

    Kihlman, B.A.

    1977-01-01

    The genetic changes of mutations and chromosomal aberrations are discussed. The consequences of both depend not only on the type of genetic change produced but also on the type of cell that is affected and on the development stage of the organism. (C.F.)

  10. Chromosomes, cancer and radiosensitivity

    International Nuclear Information System (INIS)

    Samouhos, E.

    1983-01-01

    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available

  11. Know Your Chromosomes

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 1; Issue 3. Know Your Chromosomes The Strong Holds of Family Trees. Vani Brahmachari. Series Article Volume 1 Issue 3 March 1996 pp 30-38. Fulltext. Click here to view fulltext PDF. Permanent link:

  12. Ring chromosome 13

    DEFF Research Database (Denmark)

    Brandt, C A; Hertz, Jens Michael; Petersen, M B

    1992-01-01

    A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation...

  13. Neoliberalism, trade imbalances, and economic policy in the Eurozone crisis

    Directory of Open Access Journals (Sweden)

    Engelbert Stockhammer

    2016-12-01

    Full Text Available This paper analyzes the causes of the Eurozone crisis. In doing so, it carefully surveys authors from different economic schools of thought. The paper discusses competing explanations for European current account imbalances. Remarkably, opposing views on the relative importance of cost developments and demand developments in explaining current account imbalances can be found in both heterodox and orthodox economics. Regarding the assessment of fiscal and monetary policy there is a clearer polarisation, with heterodox analysis regarding austerity as unhelpful and most of orthodox economics endorsing it. We advocate a post-Keynesian view, which holds that current account imbalances are not a fundamental cause of the sovereign debt crisis. Rather, the economic policy architecture of the Eurozone, which aims at restricting the role of fiscal and monetary policy, is the key to understanding the crisis in Europe.

  14. Charge imbalance induced by a temperature gradient in superconducting aluminum

    International Nuclear Information System (INIS)

    Mamin, H.J.; Clarke, J.; Van Harlingen, D.J.

    1984-01-01

    The quasiparticle transport current induced in a superconducting aluminum film by a temperature gradient has been measured by means of the spatially decaying charge imbalance generated near the end of the sample where the current is divergent. The magnitude and decay length of the charge imbalance are in good agreement with the predictions of a simple model that takes into account the nonuniformity of the temperature gradient. The inferred value of the thermopower in the superconducting state agrees reasonably well with the value measured in the normal state. Measurements of the decay length of charge imbalance induced by current injection yield a value of the inelastic relaxation time tau/sub E/ of about 2 ns. This value is substantially smaller than that obtained from other measurements for reasons that are not known

  15. Total hip arthroplasty in patients with neuromuscular imbalance.

    Science.gov (United States)

    Konan, S; Duncan, C P

    2018-01-01

    Patients with neuromuscular imbalance who require total hip arthroplasty (THA) present particular technical problems due to altered anatomy, abnormal bone stock, muscular imbalance and problems of rehabilitation. In this systematic review, we studied articles dealing with THA in patients with neuromuscular imbalance, published before April 2017. We recorded the demographics of the patients and the type of neuromuscular pathology, the indication for surgery, surgical approach, concomitant soft-tissue releases, the type of implant and bearing, pain and functional outcome as well as complications and survival. Recent advances in THA technology allow for successful outcomes in these patients. Our review suggests excellent benefits for pain relief and good functional outcome might be expected with a modest risk of complication. Cite this article: Bone Joint J 2018;100-B(1 Supple A):17-21. ©2018 The British Editorial Society of Bone & Joint Surgery.

  16. Telomere dysfunction and chromosome instability

    Energy Technology Data Exchange (ETDEWEB)

    Murnane, John P., E-mail: jmurnane@radonc.ucsf.edu [Department of Radiation Oncology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143-1331 (United States)

    2012-02-01

    The ends of chromosomes are composed of a short repeat sequence and associated proteins that together form a cap, called a telomere, that keeps the ends from appearing as double-strand breaks (DSBs) and prevents chromosome fusion. The loss of telomeric repeat sequences or deficiencies in telomeric proteins can result in chromosome fusion and lead to chromosome instability. The similarity between chromosome rearrangements resulting from telomere loss and those found in cancer cells implicates telomere loss as an important mechanism for the chromosome instability contributing to human cancer. Telomere loss in cancer cells can occur through gradual shortening due to insufficient telomerase, the protein that maintains telomeres. However, cancer cells often have a high rate of spontaneous telomere loss despite the expression of telomerase, which has been proposed to result from a combination of oncogene-mediated replication stress and a deficiency in DSB repair in telomeric regions. Chromosome fusion in mammalian cells primarily involves nonhomologous end joining (NHEJ), which is the major form of DSB repair. Chromosome fusion initiates chromosome instability involving breakage-fusion-bridge (B/F/B) cycles, in which dicentric chromosomes form bridges and break as the cell attempts to divide, repeating the process in subsequent cell cycles. Fusion between sister chromatids results in large inverted repeats on the end of the chromosome, which amplify further following additional B/F/B cycles. B/F/B cycles continue until the chromosome acquires a new telomere, most often by translocation of the end of another chromosome. The instability is not confined to a chromosome that loses its telomere, because the instability is transferred to the chromosome donating a translocation. Moreover, the amplified regions are unstable and form extrachromosomal DNA that can reintegrate at new locations. Knowledge concerning the factors promoting telomere loss and its consequences is

  17. Parental genome dosage imbalance deregulates imprinting in Arabidopsis.

    Directory of Open Access Journals (Sweden)

    Pauline E Jullien

    2010-03-01

    Full Text Available In mammals and in plants, parental genome dosage imbalance deregulates embryo growth and might be involved in reproductive isolation between emerging new species. Increased dosage of maternal genomes represses growth while an increased dosage of paternal genomes has the opposite effect. These observations led to the discovery of imprinted genes, which are expressed by a single parental allele. It was further proposed in the frame of the parental conflict theory that parental genome imbalances are directly mirrored by antagonistic regulations of imprinted genes encoding maternal growth inhibitors and paternal growth enhancers. However these hypotheses were never tested directly. Here, we investigated the effect of parental genome imbalance on the expression of Arabidopsis imprinted genes FERTILIZATION INDEPENDENT SEED2 (FIS2 and FLOWERING WAGENINGEN (FWA controlled by DNA methylation, and MEDEA (MEA and PHERES1 (PHE1 controlled by histone methylation. Genome dosage imbalance deregulated the expression of FIS2 and PHE1 in an antagonistic manner. In addition increased dosage of inactive alleles caused a loss of imprinting of FIS2 and MEA. Although FIS2 controls histone methylation, which represses MEA and PHE1 expression, the changes of PHE1 and MEA expression could not be fully accounted for by the corresponding fluctuations of FIS2 expression. Our results show that parental genome dosage imbalance deregulates imprinting using mechanisms, which are independent from known regulators of imprinting. The complexity of the network of regulations between expressed and silenced alleles of imprinted genes activated in response to parental dosage imbalance does not support simple models derived from the parental conflict hypothesis.

  18. Managing external imbalances in Montenegro - will faciliate integration to EU

    Directory of Open Access Journals (Sweden)

    Jacimović Danijela

    2017-01-01

    Full Text Available Montenegro as a new state has had similar approach to the development models as other European transition economies. High openness to foreign investments andeuroisation have influenced high liquidity, fiscal and financial expansion. With the current crisis, Montenegro is experiencing significant slowdown of economic activity, external imbalances, shortage of foreign capital, low credit activity, fiscal tightening and increase of public debt. This article aims to investigate the main effects to balance of payment imbalances in Montenegro. It compares economic indicators with the Eurozone countries, especially with the countries of the Eurozone periphery, trying to find similiraties and differences and possible policy recommendations, based on the experience in the Eurozone.

  19. In-phase and quadrature imbalance modeling, estimation, and compensation

    CERN Document Server

    Li, Yabo

    2013-01-01

    This book provides a unified IQ imbalance model and systematically reviews the existing estimation and compensation schemes. It covers the different assumptions and approaches that lead to many models of IQ imbalance. In wireless communication systems, the In-phase and Quadrature (IQ) modulator and demodulator are usually used as transmitter (TX) and receiver (RX), respectively. For Digital-to-Analog Converter (DAC) and Analog-to-Digital Converter (ADC) limited systems, such as multi-giga-hertz bandwidth millimeter-wave systems, using analog modulator and demodulator is still a low power and l

  20. The Great Moderation and the U.S. External Imbalance

    OpenAIRE

    Alessandra Fogli; Fabrizio Perri

    2006-01-01

    The early 1980s marked the onset of two striking features of the current world macroeconomy: the fall in U.S. business cycle volatility (the ggreat moderation h) and the large and persistent U.S. external imbalance. In this paper, we argue that an external imbalance is a natural consequence of the great moderation. If a country experiences a fall in volatility greater than that of its partners, its incentives to accumulate precautionary savings fall and this results in a permanent deteriorati...

  1. Different nutritional states and autonomic imbalance in childhood.

    Science.gov (United States)

    Dippacher, S; Willaschek, C; Buchhorn, R

    2014-11-01

    Autonomic imbalance, measured as heart rate variability (HRV), and an increased cardiovascular risk are described for overweight children, as well as for patients with anorexia nervosa. We investigate whether body mass index or actual caloric intake influences HRV. In our cross-sectional study, we compared HRV parameters for a healthy control group (n=52), anorexia nervosa patients (n=17), thin (n=18) and overweight children (n=19). Anorexia nervosa patients showed significantly lower heart rates at night (Pchildren showed an opposing pattern. SDNN and heart rate at night are highly correlated (r=0.89, R(2)=0.79, Panorexia nervosa are characterized by a specific pattern of autonomic imbalance.

  2. The X chromosome in space.

    Science.gov (United States)

    Jégu, Teddy; Aeby, Eric; Lee, Jeannie T

    2017-06-01

    Extensive 3D folding is required to package a genome into the tiny nuclear space, and this packaging must be compatible with proper gene expression. Thus, in the well-hierarchized nucleus, chromosomes occupy discrete territories and adopt specific 3D organizational structures that facilitate interactions between regulatory elements for gene expression. The mammalian X chromosome exemplifies this structure-function relationship. Recent studies have shown that, upon X-chromosome inactivation, active and inactive X chromosomes localize to different subnuclear positions and adopt distinct chromosomal architectures that reflect their activity states. Here, we review the roles of long non-coding RNAs, chromosomal organizational structures and the subnuclear localization of chromosomes as they relate to X-linked gene expression.

  3. On cuff imbalance and tripolar ENG amplifier configurations.

    Science.gov (United States)

    Triantis, Iasonas F; Demosthenous, Andreas; Donaldson, Nick

    2005-02-01

    Electroneurogram (ENG) recording techniques benefit from the use of tripolar cuffs because they assist in reducing interference from sources outside the cuff. However, in practice the performance of ENG amplifier configurations, such as the quasi-tripole and the true-tripole, has been widely reported to be degraded due to the departure of the tripolar cuff from ideal behavior. This paper establishes the presence of cuff imbalance and investigates its relationship to cuff asymmetry, cuff end-effects and interference source proximity. The paper also presents a comparison of the aforementioned amplifier configurations with a new alternative, termed the adaptive-tripole, developed to automatically compensate for cuff imbalance. The output signal-to-interference ratio of the three amplifier configurations were compared in vivo for two interference signals (stimulus artifact and M-wave) superimposed on compound action potentials. The experiments showed (for the first time) that the two interference signals result in different cuff imbalance values. Nevertheless, even with two distinct cuff imbalances present, the adaptive-tripole performed better than the other two systems in 61.9% of the trials.

  4. Interaction between current imbalance and magnetization in LHC cables

    NARCIS (Netherlands)

    Haverkamp, M.; Kuijper, A.; Kuijper, A.; den Ouden, A.; ten Haken, Bernard; Bottura, L.; ten Kate, Herman H.J.

    2001-01-01

    The quality of the magnetic field in superconducting accelerator magnets is associated with the properties of the superconducting cable. Current imbalances due to coupling currents ¿I, as large as 100 A, are induced by spatial variations of the field sweep rate and contact resistances. During

  5. THE ROLE OF INORGANIC ION IMBALANCE IN AQUATIC TOXICITY TESTING

    Science.gov (United States)

    Effluent toxicity testing methods have been well defined, but to a large part have not attempted to segregate the effects of active ionic concentrations and ion imbalances upon test and species performances. The role that various total dissolved solids in effluents have on regula...

  6. Heat split imbalance study for annular fuel rod

    International Nuclear Information System (INIS)

    He Xiaojun; Ji Songtao; Zhang Yingchao

    2014-01-01

    Annular fuel rod has two gaps at inner and outer side. Under irradiation condition, the dimensional change of pellets is always larger than claddings' due to thermal expansion, swelling and densification, and this tends to enlarge the inner gap and reduce the outer gap. The gap size asymmetry must induce heat split imbalance problem that the heat flux will be larger at outer side of the rod. In this work, computer code AFPAC l.0 is used to simulate this heat split imbalance phenomena. The effect of initial gap size, rod inner pressure, roughness of pellets and cladding is studied, the results reveal that: l) Adjusting initial size of both gaps, reducing inner gap and enlarging outer gap could effectively alleviate heat split imbalance problem; 2) Adjusting the initial roughness of pellets and cladding is another effective approach to reducing heat split imbalance; 3) It seems that changing the rod inner pressure has a little effect on solving the heat flux asymmetry problem. (authors)

  7. Private consumption-savings behavior and macroeconomic imbalances

    NARCIS (Netherlands)

    de Castro Campos, M.

    2016-01-01

    Between the signing of the Maastricht Treaty in 1991 and 2007 many of the existing macroeconomic theories were applied to support the claim that the euro area was an optimal currency union and to argue that increasing macroeconomic imbalances were a logical part of the financial integration process.

  8. Labor Markets in Imbalance: Review of Qualitative Evidence.

    Science.gov (United States)

    Medoff, James L.; Wiener, Jonathan B.

    Recent statistical investigations indicate that labor market imbalance has increased during the past decade and has had important deleterious effects on the nation's inflation and productivity growth records. A growing difficulty in filling skilled jobs at a given unemployment rate is reflected. Business community analysts attribute the growing…

  9. Prism adaptation improves postural imbalance in neglect patients

    NARCIS (Netherlands)

    Nijboer, Tanja C W; Olthoff, Liselot; Van der Stigchel, Stefan; Visser-Meily, Johanna M a

    2014-01-01

    Several studies have found a negative relation between neglect and postural imbalance. The aim of the current study was to investigate the influence of a single session of prism adaptation on balance [i.e. mediolateral and anteroposterior center of pressure (CoP)] and postural sway (i.e. mean

  10. Acute proximal junctional failure in patients with preoperative sagittal imbalance.

    Science.gov (United States)

    Smith, Micah W; Annis, Prokopis; Lawrence, Brandon D; Daubs, Michael D; Brodke, Darrel S

    2015-10-01

    Proximal junctional failure (PJF) is a recognized complication of spinal deformity surgery. Acute PJF (APJF) has recently been demonstrated to be 5.6% in the adult spinal deformity (ASD) population. The incidence and rate of return to the operating room for APJF have not been specifically investigated in individuals with sagittal imbalance. The purpose of this study was to report the incidence of APJF in patients with preoperative sagittal imbalance and the rate of return to the operating room for APJF. This study is based on a retrospective review of prospectively collected database of ASD patients. One hundred seventy-three consecutive patients were included with preoperative sagittal imbalance according to one of the following common parameters: sagittal vertical axis (SVA) greater than 50 mm, global sagittal alignment greater than 45°, or pelvic incidence minus lumbar lordosis greater than 10°. Outcome measure was presence and/or absence of APJF defined as fracture at the upper instrumented vertebra (UIV) or UIV+1, failure of UIV fixation, 15° or more proximal junctional kyphosis, or need for extension of instrumentation within 6 months of surgery. We performed radiographic measurements on X-rays at preoperative, immediate postoperative, and 6-month follow-up visits. The APJF rate was reported for the entire patient population with preoperative sagittal imbalance. Acute PJF incidence was calculated postoperatively for each of the accepted sagittal balance parameters and/or formulas. Patients with persistent postoperative sagittal imbalance were compared with the sagittally balanced group. We also assessed for threshold values. Acute PJF was observed in 60 of 173 patients (35%) and was least common in fusions with the UIV in the upper thoracic (UT) spine (p=.035). Of those who developed APJF, 21.7% required surgery. Proximal junctional kyphosis 15° or more was the most common form of APJF in fusions to the UT spine but least likely to need revision (p=.014

  11. Redox imbalance and mitochondrial abnormalities in the diabetic lung.

    Science.gov (United States)

    Wu, Jinzi; Jin, Zhen; Yan, Liang-Jun

    2017-04-01

    Although the lung is one of the least studied organs in diabetes, increasing evidence indicates that it is an inevitable target of diabetic complications. Nevertheless, the underlying biochemical mechanisms of lung injury in diabetes remain largely unexplored. Given that redox imbalance, oxidative stress, and mitochondrial dysfunction have been implicated in diabetic tissue injury, we set out to investigate mechanisms of lung injury in diabetes. The objective of this study was to evaluate NADH/NAD + redox status, oxidative stress, and mitochondrial abnormalities in the diabetic lung. Using STZ induced diabetes in rat as a model, we measured redox-imbalance related parameters including aldose reductase activity, level of poly ADP ribose polymerase (PAPR-1), NAD + content, NADPH content, reduced form of glutathione (GSH), and glucose 6-phophate dehydrogenase (G6PD) activity. For assessment of mitochondrial abnormalities in the diabetic lung, we measured the activities of mitochondrial electron transport chain complexes I to IV and complex V as well as dihydrolipoamide dehydrogenase (DLDH) content and activity. We also measured the protein content of NAD + dependent enzymes such as sirtuin3 (sirt3) and NAD(P)H: quinone oxidoreductase 1 (NQO1). Our results demonstrate that NADH/NAD + redox imbalance occurs in the diabetic lung. This redox imbalance upregulates the activities of complexes I to IV, but not complex V; and this upregulation is likely the source of increased mitochondrial ROS production, oxidative stress, and cell death in the diabetic lung. These results, together with the findings that the protein contents of DLDH, sirt3, and NQO1 all are decreased in the diabetic lung, demonstrate that redox imbalance, mitochondrial abnormality, and oxidative stress contribute to lung injury in diabetes. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  12. [Chromosome abnormalities associated with Phl and acturial survivorship curve in chronic myeloid leukemia. Probabilistic interpretation of blastic transformation of CML].

    Science.gov (United States)

    Coutris, G

    1981-12-01

    Sixty-six patients with chronic myelogenous leukemia, all with Philadelphia chromosome, have been studied for chromosomic abnormalities associated (CAA) to Ph', as well as for actuarial curve of survivorship. Patients dying from another disease were excluded from this study. Frequency of cells with CAA was measured and appeared strongly higher after blastic transformation than during myelocytic state; probability to be a blastic transformation is closely correlated with this frequency. On the other hand, actuarial curve of survivorship is very well represented by an exponential curve. This suggests a constant rate of death during disease evolution, for these patients without intercurrent disease. As a mean survivance after blastic transformation is very shorter than myelocytic duration, a constant rate of blastic transformation could be advanced: it explains possible occurrence of transformation as soon as preclinic state of a chronic myelogenous leukemia. Even if CAA frequency increases after blastic transformation, CAA can occur a long time before it and do not explain it: submicroscopic origin should be searched for the constant rate of blastic transformation would express the risk of a genic transformation at a constant rate during myelocytic state.

  13. Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

    Science.gov (United States)

    Bruno, Damien L; Stark, Zornitza; Amor, David J; Burgess, Trent; Butler, Kathy; Corrie, Sylvea; Francis, David; Ganesamoorthy, Devika; Hills, Louise; James, Paul A; O'Rielly, Darren; Oertel, Ralph; Savarirayan, Ravi; Prabhakara, Krishnamurthy; Salce, Nicholas; Slater, Howard R

    2011-12-01

    Microarray analysis has provided significant advances in the diagnosis of conditions resulting from submicroscopic chromosome abnormalities. It has been recommended that array testing should be a "first tier" test in the evaluation of individuals with intellectual disability, developmental delay, congenital anomalies, and autism. The availability of arrays with increasingly high probe coverage and resolution has increased the detection of decreasingly small copy number changes (CNCs) down to the intragenic or even exon level. Importantly, arrays that genotype SNPs also detect extended regions of homozygosity. We describe 14 examples of single gene disorders caused by intragenic changes from a consecutive set of 6,500 tests using high-resolution SNP microarrays. These cases illustrate the increased scope of cytogenetic testing beyond dominant chromosome rearrangements that typically contain many genes. Nine of the cases confirmed the clinical diagnosis, that is, followed a "phenotype to genotype" approach. Five were diagnosed by the laboratory analysis in the absence of a specific clinical diagnosis, that is, followed a "genotype to phenotype" approach. Two were clinically significant, incidental findings. The importance of astute clinical assessment and laboratory-clinician consultation is emphasized to optimize the value of microarrays in the diagnosis of disorders caused by single gene copy number and sequence mutations. © 2011 Wiley-Liss, Inc.

  14. Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis.

    Science.gov (United States)

    Balboa-Beltrán, Emilia; Cruz, Raquel; Carracedo, Angel; Barros, Francisco

    2015-07-01

    Allelic imbalance of thymidylate synthase (TYMS) is attributed to polymorphisms in the 5'- and 3'-untranslated region (UTR). These polymorphisms have been related to the risk of suffering different cancers, for example leukemia, breast or gastric cancer, and response to different drugs, among which are methotrexate glutamates, stavudine, and specifically 5-fluorouracil (5-FU), as TYMS is its direct target. A vast literature has been published in relation to 5-FU, even suggesting the sole use of these polymorphisms to effectively manage 5-FU dosage. Estimates of the extent to which these polymorphisms influence in TYMS expression have in the past been based on functional analysis by luciferase assays and quantification of TYMS mRNA, but both these studies, as the association studies with cancer risk or with toxicity or response to 5-FU, are very contradictory. Regarding functional assays, the artificial genetic environment created in luciferase assay and the problems derived from quantitative polymerase chain reactions (qPCRs), for example the use of a reference gene, may have distorted the results. To avoid these sources of interference, we have analyzed the allelic imbalance of TYMS by allelic-specific analysis in peripheral blood mononuclear cells (PBMCs) from patients.Allelic imbalance in PBMCs, taken from 40 patients with suspected myeloproliferative haematological diseases, was determined by fluorescent fragment analysis (for the 3'-UTR polymorphism), Sanger sequencing and allelic-specific qPCR in multiplex (for the 5'-UTR polymorphisms).For neither the 3'- nor the 5'-UTR polymorphisms did the observed allelic imbalance exceed 1.5 fold. None of the TYMS polymorphisms is statistically associated with allelic imbalance.The results acquired allow us to deny the previously established assertion of an influence of 2 to 4 fold of the rs45445694 and rs2853542 polymorphisms in the expression of TYMS and narrow its allelic imbalance to 1.5 fold, in our population

  15. Molecular fundamentals of chromosomal mutagenesis

    International Nuclear Information System (INIS)

    Ganassi, E.Eh.; Zaichkina, S.I.; Malakhova, L.V.

    1987-01-01

    Precise quantitative correlation between the yield of chromosome structure damages and the yield of DNA damages is shown when comparing data on molecular and cytogenetic investigations carried out in cultural Mammalia cells. As the chromosome structure damage is to be connected with the damage of its carcass structure, then it is natural that DNA damage in loop regions is not to affect considerably the structure, while DNA damage lying on the loop base and connected with the chromosome carcass is to play a determining role in chromosomal mutagenesis. This DNA constitutes 1-2% from the total quantity of nuclear DNA. If one accepts that damages of these regions of DNA are ''hot'' points of chromosomal mutagenesis, then it becomes clear why 1-2% of preparation damages in a cell are realized in chromosome structural damages

  16. Intraspecific chromosome variability

    Directory of Open Access Journals (Sweden)

    N Dubinin

    2010-12-01

    Full Text Available (Editorial preface. The publication is presented in order to remind us of one of dramatic pages of the history of genetics. It re-opens for the contemporary reader a comprehensive work marking the priority change from plant cytogenetics to animal cytogenetics led by wide population studies which were conducted on Drosophila polytene chromosomes. The year of the publication (1937 became the point of irretrievable branching between the directions of Old World and New World genetics connected with the problems of chromosome variability and its significance for the evolution of the species. The famous book of T. Dobzhansky (1937 was published by Columbia University in the US under the title “Genetics and the origin of species”, and in the shadow of this American ‘skybuilding’ all other works grew dim. It is remarkable that both Dobzhansky and Dubinin come to similar conclusions about the role of chromosomes in speciation. This is not surprising given that they both might be considered as representatives of the Russian genetic school, by their birth and education. Interestingly, Dobzhansky had never referred to the full paper of Dubinin et al. (1937, though a previous short communication in Nature (1936 was included together with all former papers on the related subject. In full, the volume of the original publication printed in the Biological Journal in Moscow comprised 47 pages, in that number 41 pages of the Russian text accompanied by 16 Figs, a table and reference list, and, above all, 6 pages of the English summary. This final part in English is now reproduced in the authors’ version with the only addition being the reference list in the originally printed form.

  17. 8q24 allelic imbalance and MYC gene copy number in primary prostate cancer.

    Science.gov (United States)

    Chen, H; Liu, W; Roberts, W; Hooker, S; Fedor, H; DeMarzo, A; Isaacs, W; Kittles, R A

    2010-09-01

    Four independent regions within 8q24 near the MYC gene are associated with risk for prostate cancer (Pca). Here, we investigated allelic imbalance (AI) at 8q24 risk variants and MYC gene DNA copy number (CN) in 27 primary Pcas. Heterozygotes were observed in 24 of 27 patients at one or more 8q24 markers and 27% of the loci exhibited AI in tumor DNA. The 8q24 risk alleles were preferentially favored in the tumors. Increased MYC gene CN was observed in 33% of tumors, and the co-existence of increased MYC gene CN with AI at risk loci was observed in 86% (P<0.004 exact binomial test) of the informative tumors. No AI was observed in tumors, which did not reveal increased MYC gene CN. Higher Gleason score was associated with tumors exhibiting AI (P=0.04) and also with increased MYC gene CN (P=0.02). Our results suggest that AI at 8q24 and increased MYC gene CN may both be related to high Gleason score in Pca. Our findings also suggest that these two somatic alterations may be due to the same preferential chromosomal duplication event during prostate tumorigenesis.

  18. In vitro analysis of integrated global high-resolution DNA methylation profiling with genomic imbalance and gene expression in osteosarcoma.

    Directory of Open Access Journals (Sweden)

    Bekim Sadikovic

    Full Text Available Genetic and epigenetic changes contribute to deregulation of gene expression and development of human cancer. Changes in DNA methylation are key epigenetic factors regulating gene expression and genomic stability. Recent progress in microarray technologies resulted in developments of high resolution platforms for profiling of genetic, epigenetic and gene expression changes. OS is a pediatric bone tumor with characteristically high level of numerical and structural chromosomal changes. Furthermore, little is known about DNA methylation changes in OS. Our objective was to develop an integrative approach for analysis of high-resolution epigenomic, genomic, and gene expression profiles in order to identify functional epi/genomic differences between OS cell lines and normal human osteoblasts. A combination of Affymetrix Promoter Tilling Arrays for DNA methylation, Agilent array-CGH platform for genomic imbalance and Affymetrix Gene 1.0 platform for gene expression analysis was used. As a result, an integrative high-resolution approach for interrogation of genome-wide tumour-specific changes in DNA methylation was developed. This approach was used to provide the first genomic DNA methylation maps, and to identify and validate genes with aberrant DNA methylation in OS cell lines. This first integrative analysis of global cancer-related changes in DNA methylation, genomic imbalance, and gene expression has provided comprehensive evidence of the cumulative roles of epigenetic and genetic mechanisms in deregulation of gene expression networks.

  19. Modified Mahalanobis Taguchi System for Imbalance Data Classification

    Directory of Open Access Journals (Sweden)

    Mahmoud El-Banna

    2017-01-01

    Full Text Available The Mahalanobis Taguchi System (MTS is considered one of the most promising binary classification algorithms to handle imbalance data. Unfortunately, MTS lacks a method for determining an efficient threshold for the binary classification. In this paper, a nonlinear optimization model is formulated based on minimizing the distance between MTS Receiver Operating Characteristics (ROC curve and the theoretical optimal point named Modified Mahalanobis Taguchi System (MMTS. To validate the MMTS classification efficacy, it has been benchmarked with Support Vector Machines (SVMs, Naive Bayes (NB, Probabilistic Mahalanobis Taguchi Systems (PTM, Synthetic Minority Oversampling Technique (SMOTE, Adaptive Conformal Transformation (ACT, Kernel Boundary Alignment (KBA, Hidden Naive Bayes (HNB, and other improved Naive Bayes algorithms. MMTS outperforms the benchmarked algorithms especially when the imbalance ratio is greater than 400. A real life case study on manufacturing sector is used to demonstrate the applicability of the proposed model and to compare its performance with Mahalanobis Genetic Algorithm (MGA.

  20. Metabolic disorders in adipocytokine imbalance and gestational complications

    Directory of Open Access Journals (Sweden)

    Natalya B. Chabanova

    2017-06-01

    Full Text Available Adipose tissue as an endocrine organ synthesizes a large number of biologically active substances, adipocytokines, which have both local and systemic effects influencing the vascular wall, tissue sensitivity to insulin, glucose metabolism, and systemic inflammation. The data obtained from clinical and experimental studies demonstrate the close relationship between the imbalance of adipocytokines and pregnancy complications such as insulin resistance, gestational diabetes, and preeclampsia. In this connection, close attention of obstetrician-gynecologists and endocrinologists is focused on etiopathogenic aspects of the formation of gestational complications with metabolic disorders caused by an imbalance of adipocytokines with maternal obesity and to the search for markers of these disorders. The review presents the current literature data on adipose tissue hormones and their influence on the course of a gestational process.

  1. Spinal pedicle subtraction osteotomy for fixed sagittal imbalance patients

    Science.gov (United States)

    Hyun, Seung-Jae; Kim, Yongjung J; Rhim, Seung-Chul

    2013-01-01

    In addressing spinal sagittal imbalance through a posterior approach, the surgeon now may choose from among a variety of osteotomy techniques. Posterior column osteotomies such as the facetectomy or Ponte or Smith-Petersen osteotomy provide the least correction, but can be used at multiple levels with minimal blood loss and a lower operative risk. Pedicle subtraction osteotomies provide nearly 3 times the per-level correction of Ponte/Smith-Petersen osteotomies; however, they carry increased technical demands, longer operative time, and greater blood loss and associated significant morbidity, including neurological injury. The literature focusing on pedicle subtraction osteotomy for fixed sagittal imbalance patients is reviewed. The long-term overall outcomes, surgical tips to reduce the complications and suggestions for their proper application are also provided. PMID:24340276

  2. Modified Mahalanobis Taguchi System for Imbalance Data Classification

    Science.gov (United States)

    2017-01-01

    The Mahalanobis Taguchi System (MTS) is considered one of the most promising binary classification algorithms to handle imbalance data. Unfortunately, MTS lacks a method for determining an efficient threshold for the binary classification. In this paper, a nonlinear optimization model is formulated based on minimizing the distance between MTS Receiver Operating Characteristics (ROC) curve and the theoretical optimal point named Modified Mahalanobis Taguchi System (MMTS). To validate the MMTS classification efficacy, it has been benchmarked with Support Vector Machines (SVMs), Naive Bayes (NB), Probabilistic Mahalanobis Taguchi Systems (PTM), Synthetic Minority Oversampling Technique (SMOTE), Adaptive Conformal Transformation (ACT), Kernel Boundary Alignment (KBA), Hidden Naive Bayes (HNB), and other improved Naive Bayes algorithms. MMTS outperforms the benchmarked algorithms especially when the imbalance ratio is greater than 400. A real life case study on manufacturing sector is used to demonstrate the applicability of the proposed model and to compare its performance with Mahalanobis Genetic Algorithm (MGA). PMID:28811820

  3. Vorticity imbalance and stability in relation to convection

    Science.gov (United States)

    Read, W. L.; Scoggins, J. R.

    1977-01-01

    A complete synoptic-scale vorticity budget was related to convection storm development in the eastern two-thirds of the United States. The 3-h sounding interval permitted a study of time changes of the vorticity budget in areas of convective storms. Results of analyses revealed significant changes in values of terms in the vorticity equation at different stages of squall line development. Average budgets for all areas of convection indicate systematic imbalance in the terms in the vorticity equation. This imbalance resulted primarily from sub-grid scale processes. Potential instability in the lower troposphere was analyzed in relation to the development of convective activity. Instability was related to areas of convection; however, instability alone was inadequate for forecast purposes. Combinations of stability and terms in the vorticity equation in the form of indices succeeded in depicting areas of convection better than any one item separately.

  4. Spin imbalance effect on the Larkin-Ovchinnikov-Fulde-Ferrel state

    International Nuclear Information System (INIS)

    Yoshii, Ryosuke; Tsuchiya, Shunji; Marmorini, Giacomo; Nitta, Muneto

    2011-01-01

    We study spin imbalance effects on the Larkin-Ovchinnikov-Fulde-Ferrel (LOFF) state relevant for superconductors under a strong magnetic field and spin polarized ultracold Fermi gas. We obtain the exact solution for the condensates with arbitrary spin imbalance and the fermion spectrum perturbatively in the presence of small spin imbalance. We also obtain fermion zero mode exactly without perturbation theory.

  5. Prevalence and distribution of muscle-imbalance in the human body ...

    African Journals Online (AJOL)

    The phenomenon of muscle imbalance is pandemic, and may contribute to problems such as poor posture, low back pain. Significant is the fact that muscle imbalance may influence the motor patterning process. Key words: Muscle imbalance, low back pain, posture, malposture, withdrawal response. (Af. J. Physical, Health ...

  6. KNEE ISOKINETIC TORQUE IMBALANCE IN FEMALE FUTSAL PLAYERS

    Directory of Open Access Journals (Sweden)

    Ana Carolina de Mello Alves Rodrigues

    Full Text Available ABSTRACT Introduction: The specificity of sports training can lead to muscle specialization with a possible change in the natural hamstring/quadriceps torque ratio (HQ ratio, constituting a risk factor for muscle injury at the joint angles in which muscle imbalance may impair dynamic stability. Objective: The aim was to evaluate the torque distribution of the hamstrings and quadriceps and the HQ ratio throughout the range of motion in order to identify possible muscle imbalances at the knee of female futsal athletes. Methods: Nineteen amateur female futsal athletes had their dominant limb HQ ratio evaluated in a series of five maximum repetitions of flexion/extension of the knee at 180°/second in the total joint range of motion (30° to 80°. The peak flexor and extensor torque and the HQ ratio (% were compared each 5° of knee motion using one-way repeated measures ANOVA and Tukey’s post hoc test (p<0.05 to determine the joint angles that present muscular imbalance. Results: Quadriceps torque was higher than 50° to 60° of knee flexion, while hamstrings torque was higher than 55° to 65°. The HQ ratio presented lower values than 30° to 45° of knee flexion and four athletes presented values lower than 60%, which may represent a risk of injury. However, the HQ ratio calculated by the peak torque showed only one athlete with less than 60%. Conclusion: The HQ ratio analyzed throughout the knee range of motion allowed identifying muscle imbalance at specific joint angles in female futsal players.

  7. Geographical Labor Market Imbalances by Chiara Mussida and Francesco Pastore

    Directory of Open Access Journals (Sweden)

    Daniela PASNICU

    2016-04-01

    Full Text Available The book, entitled Geographical Labor Market Imbalances represents a collective volume of outstanding scientific papers concerning regional issues, which were presented at the XXVII National Conference of Labour Economics organized by AIEL (Italian Association of Labor Economics, the Department of Law of SecundaUniversità di Napoli and the Departments of Economic and Social Sciences of the UniversitàCattolica del SacroCuore (Piacenza, 27-28 September 2012.

  8. Decentralisation of GST Services and Vertical Imbalances in Pakistan

    OpenAIRE

    Iffat Ara; Muhammad Sabir

    2010-01-01

    In Pakistan, provincial finances largely hinge on federal transfers from the divisible pool via the National Finance Commission (NFC) Award. While provincial share in tax revenue is less than 5 percent, provincial share in expenditure is over 25 percent, indicating dependence on federal transfers and the extent of vertical fiscal imbalance. The sustainability of public services provided by the provinces requires enough “own” revenues rather than reliance on federal transfers and grants. The 7...

  9. X chromosome and suicide.

    Science.gov (United States)

    Fiori, L M; Zouk, H; Himmelman, C; Turecki, G

    2011-02-01

    Suicide completion rates are significantly higher in males than females in most societies. Although gender differences in suicide rates have been partially explained by environmental and behavioral factors, it is possible that genetic factors, through differential expression between genders, may also help explain gender moderation of suicide risk. This study investigated X-linked genes in suicide completers using a two-step strategy. We first took advantage of the genetic structure of the French-Canadian population and genotyped 722 unrelated French-Canadian male subjects, of whom 333 were suicide completers and 389 were non-suicide controls, using a panel of 37 microsatellite markers spanning the entire X chromosome. Nine haplotype windows and several individual markers were associated with suicide. Significant results aggregated primarily in two regions, one in the long arm and another in the short arm of chromosome X, limited by markers DXS8051 and DXS8102, and DXS1001 and DXS8106, respectively. The second stage of the study investigated differential brain expression of genes mapping to associated regions in Brodmann areas 8/9, 11, 44 and 46, in an independent sample of suicide completers and controls. Six genes within these regions, Rho GTPase-activating protein 6, adaptor-related protein complex 1 sigma 2 subunit, glycoprotein M6B, ribosomal protein S6 kinase 90  kDa polypeptide 3, spermidine/spermine N(1)-acetyltransferase 1 and THO complex 2, were found to be differentially expressed in suicide completers.

  10. Chromosome Connections: Compelling Clues to Common Ancestry

    Science.gov (United States)

    Flammer, Larry

    2013-01-01

    Students compare banding patterns on hominid chromosomes and see striking evidence of their common ancestry. To test this, human chromosome no. 2 is matched with two shorter chimpanzee chromosomes, leading to the hypothesis that human chromosome 2 resulted from the fusion of the two shorter chromosomes. Students test that hypothesis by looking for…

  11. Mass imbalances in EPANET water-quality simulations

    Science.gov (United States)

    Davis, Michael J.; Janke, Robert; Taxon, Thomas N.

    2018-04-01

    EPANET is widely employed to simulate water quality in water distribution systems. However, in general, the time-driven simulation approach used to determine concentrations of water-quality constituents provides accurate results only for short water-quality time steps. Overly long time steps can yield errors in concentration estimates and can result in situations in which constituent mass is not conserved. The use of a time step that is sufficiently short to avoid these problems may not always be feasible. The absence of EPANET errors or warnings does not ensure conservation of mass. This paper provides examples illustrating mass imbalances and explains how such imbalances can occur because of fundamental limitations in the water-quality routing algorithm used in EPANET. In general, these limitations cannot be overcome by the use of improved water-quality modeling practices. This paper also presents a preliminary event-driven approach that conserves mass with a water-quality time step that is as long as the hydraulic time step. Results obtained using the current approach converge, or tend to converge, toward those obtained using the preliminary event-driven approach as the water-quality time step decreases. Improving the water-quality routing algorithm used in EPANET could eliminate mass imbalances and related errors in estimated concentrations. The results presented in this paper should be of value to those who perform water-quality simulations using EPANET or use the results of such simulations, including utility managers and engineers.

  12. Systemic Redox Imbalance in Chronic Kidney Disease: A Systematic Review

    Science.gov (United States)

    Kaltsatou, Antonia; Jamurtas, Athanasios Z.; Koutedakis, Yiannis; Stefanidis, Ioannis; Sakkas, Giorgos K.

    2016-01-01

    Patients with chronic kidney disease (CKD) experience imbalance between oxygen reactive species (ROS) production and antioxidant defenses leading to cell and tissue damage. However, it remains unclear at which stage of renal insufficiency the redox imbalance becomes more profound. The aim of this systematic review was to provide an update on recent advances in our understanding of how the redox status changes in the progression of renal disease from predialysis stages 1 to 4 to end stage 5 and whether the various treatments and dialysis modalities influence the redox balance. A systematic review was conducted searching PubMed and Scopus by using the Cochrane and PRISMA guidelines. In total, thirty-nine studies met the inclusion criteria and were reviewed. Even from an early stage, imbalance in redox status is evident and as the kidney function worsens it becomes more profound. Hemodialysis therapy per se seems to negatively influence the redox status by the elevation of lipid peroxidation markers, protein carbonylation, and impairing erythrocyte antioxidant defense. However, other dialysis modalities do not so far appear to confer advantages. Supplementation with antioxidants might assist and should be considered as an early intervention to halt premature atherogenesis development at an early stage of CKD. PMID:27563376

  13. Systemic Redox Imbalance in Chronic Kidney Disease: A Systematic Review

    Directory of Open Access Journals (Sweden)

    Konstantina P. Poulianiti

    2016-01-01

    Full Text Available Patients with chronic kidney disease (CKD experience imbalance between oxygen reactive species (ROS production and antioxidant defenses leading to cell and tissue damage. However, it remains unclear at which stage of renal insufficiency the redox imbalance becomes more profound. The aim of this systematic review was to provide an update on recent advances in our understanding of how the redox status changes in the progression of renal disease from predialysis stages 1 to 4 to end stage 5 and whether the various treatments and dialysis modalities influence the redox balance. A systematic review was conducted searching PubMed and Scopus by using the Cochrane and PRISMA guidelines. In total, thirty-nine studies met the inclusion criteria and were reviewed. Even from an early stage, imbalance in redox status is evident and as the kidney function worsens it becomes more profound. Hemodialysis therapy per se seems to negatively influence the redox status by the elevation of lipid peroxidation markers, protein carbonylation, and impairing erythrocyte antioxidant defense. However, other dialysis modalities do not so far appear to confer advantages. Supplementation with antioxidants might assist and should be considered as an early intervention to halt premature atherogenesis development at an early stage of CKD.

  14. Imbalance between abstract and concrete repetitive thinking modes in schizophrenia.

    Science.gov (United States)

    Maurage, Pierre; Philippot, Pierre; Grynberg, Delphine; Leleux, Dominique; Delatte, Benoît; Mangelinckx, Camille; Belge, Jan-Baptist; Constant, Eric

    2017-10-01

    Repetitive thoughts can be divided in two modes: abstract/analytic (decontextualized and dysfunctional) and concrete/experiential (problem-focused and adaptive). They constitute a transdiagnostic process involved in many psychopathological states but have received little attention in schizophrenia, as earlier studies only indexed increased ruminations (related to dysfunctional repetitive thoughts) without jointly exploring both modes. This study explored the two repetitive thinking modes, beyond ruminations, to determine their imbalance in schizophrenia. Thirty stabilized patients with schizophrenia and 30 matched controls completed the Repetitive Response Scale and the Mini Cambridge-Exeter Repetitive Thought Scale, both measuring repetitive thinking modes. Complementary measures related to schizophrenic symptomatology, depression and anxiety were also conducted. Compared to controls, patients with schizophrenia presented an imbalance between repetitive thinking modes, with increased abstract/analytic and reduced concrete/experiential thoughts, even after controlling for comorbidities. Schizophrenia is associated with stronger dysfunctional repetitive thoughts (i.e. abstract thinking) and impaired ability to efficiently use repetitive thinking for current problem-solving (i.e. concrete thinking). This imbalance confirms the double-faced nature of repetitive thinking modes, whose influence on schizophrenia's symptomatology should be further investigated. The present results also claim for evaluating these processes in clinical settings and for rehabilitating the balance between opposite repetitive thinking modes. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Transfer Learning for Class Imbalance Problems with Inadequate Data.

    Science.gov (United States)

    Al-Stouhi, Samir; Reddy, Chandan K

    2016-07-01

    A fundamental problem in data mining is to effectively build robust classifiers in the presence of skewed data distributions. Class imbalance classifiers are trained specifically for skewed distribution datasets. Existing methods assume an ample supply of training examples as a fundamental prerequisite for constructing an effective classifier. However, when sufficient data is not readily available, the development of a representative classification algorithm becomes even more difficult due to the unequal distribution between classes. We provide a unified framework that will potentially take advantage of auxiliary data using a transfer learning mechanism and simultaneously build a robust classifier to tackle this imbalance issue in the presence of few training samples in a particular target domain of interest. Transfer learning methods use auxiliary data to augment learning when training examples are not sufficient and in this paper we will develop a method that is optimized to simultaneously augment the training data and induce balance into skewed datasets. We propose a novel boosting based instance-transfer classifier with a label-dependent update mechanism that simultaneously compensates for class imbalance and incorporates samples from an auxiliary domain to improve classification. We provide theoretical and empirical validation of our method and apply to healthcare and text classification applications.

  16. Money and age in schools: Bullying and power imbalances.

    Science.gov (United States)

    Chaux, Enrique; Castellanos, Melisa

    2015-05-01

    School bullying continues to be a serious problem around the world. Thus, it seems crucial to clearly identify the risk factors associated with being a victim or a bully. The current study focused in particular on the role that age and socio-economic differences between classmates could play on bullying. Logistic and multilevel analyses were conducted using data from 53,316 5th and 9th grade students from a representative sample of public and private Colombian schools. Higher age and better family socio-economic conditions than classmates were risk factors associated with being a bully, while younger age and poorer socio-economic conditions than classmates were associated with being a victim of bullying. Coming from authoritarian families or violent neighborhoods, and supporting beliefs legitimizing aggression, were also associated with bullying and victimization. Empathy was negatively associated with being a bully, and in some cases positively associated with being a victim. The results highlight the need to take into account possible sources of power imbalances, such as age and socio-economic differences among classmates, when seeking to prevent bullying. In particular, interventions focused on peer group dynamics might contribute to avoid power imbalances or to prevent power imbalances from becoming power abuse. Aggr. Behav. 41:280-293, 2015. © 2014 Wiley Periodicals, Inc. © 2014 Wiley Periodicals, Inc.

  17. On broadened definitions of instability for stars in thermal imbalance

    International Nuclear Information System (INIS)

    Simon, N.R.

    1977-01-01

    The classical theory of stability of dynamical systems is employed to demonstrate that traditional definitions of pulsational instability cannot be directly applied to stars in thermal imbalance. In particular, it is shown that, for the case of thermal imbalance, pulsational displacements and pulsational velocities have separate and distinct e-folding times. This being true, a broadened set of definitions becomes necessary, and such a set is formulated again with reference to the classical theory. In accordance with the new definitions, it is argued that the development of observable pulsations requires as a necessary condition infinitesimal instability of both absolute displacement and velocity. If either one is unstable without the other, this constitutes a class of (probably) non-pulsational instability, not previously treated in the astrophysical literature. Finally, it is shown that the stability of stars in thermal imbalance may be evaluated according to the present definitions by employing either of two existing theories - the energy approach due to Demaret (1974; 1975; 1976) or the small perturbation technique of Cox et al. (1973). (Auth.)

  18. New Y chromosomes and early stages of sex chromosome ...

    Indian Academy of Sciences (India)

    2010-09-06

    Sep 6, 2010 ... chromosomes are evolutionary consequences of that func- tion. Given sufficient ... (for a review, see Charlesworth et al. 2005). ... In the present paper, I review sex deter- mination .... part had apparently been exchanged against the homologous ... age group III-Y chromosomes were successful while in well-.

  19. Pure chromosome-specific PCR libraries from single sorted chromosomes

    NARCIS (Netherlands)

    VanDevanter, D. R.; Choongkittaworn, N. M.; Dyer, K. A.; Aten, J. A.; Otto, P.; Behler, C.; Bryant, E. M.; Rabinovitch, P. S.

    1994-01-01

    Chromosome-specific DNA libraries can be very useful in molecular and cytogenetic genome mapping studies. We have developed a rapid and simple method for the generation of chromosome-specific DNA sequences that relies on polymerase chain reaction (PCR) amplification of a single flow-sorted

  20. Cohesin in determining chromosome architecture

    Energy Technology Data Exchange (ETDEWEB)

    Haering, Christian H., E-mail: christian.haering@embl.de [Cell Biology and Biophysics Unit, European Molecular Biology Laboratory (EMBL), Heidelberg (Germany); Jessberger, Rolf, E-mail: rolf.jessberger@tu-dresden.de [Institute of Physiological Chemistry, Dresden University of Technology, Dresden (Germany)

    2012-07-15

    Cells use ring-like structured protein complexes for various tasks in DNA dynamics. The tripartite cohesin ring is particularly suited to determine chromosome architecture, for it is large and dynamic, may acquire different forms, and is involved in several distinct nuclear processes. This review focuses on cohesin's role in structuring chromosomes during mitotic and meiotic cell divisions and during interphase.

  1. Sex chromosomes in Ephestia kuehniella

    Czech Academy of Sciences Publication Activity Database

    Marec, František; Sahara, K.; Traut, W.

    2001-01-01

    Roč. 44, č. 1 (2001), s. 131 ISSN 0003-3995. [European Cytogenetics Conference /3./. 07.07.2001-10.07.2001, Paris] Institutional research plan: CEZ:AV0Z5007907 Keywords : Telomere * sex chromosomes * chromosome fragments Subject RIV: EB - Genetics ; Molecular Biology

  2. Slit scan flow cytometry of isolated chromosomes following fluorescence hybridization: an approach of online screening for specific chromosomes and chromosome translocations

    NARCIS (Netherlands)

    Hausmann, M.; Dudin, G.; Aten, J. A.; Heilig, R.; Diaz, E.; Cremer, C.

    1991-01-01

    The recently developed methods of non radioactive in situ hybridization of chromosomes offer new aspects for chromosome analysis. Fluorescent labelling of hybridized chromosomes or chromosomal subregions allows to facilitate considerably the detection of specific chromosomal abnormalities. For many

  3. Schizophrenia and chromosomal deletions

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Baldini, A. [Baylor College of Medicine, Houston, TX (United States); Morris, M. A. [Univ. of Geneva School of Medicine, NY (United States)] [and others

    1995-06-01

    Recent genetic linkage analysis studies have suggested the presence of a schizophrenia locus on the chromosomal region 22q11-q13. Schizophrenia has also been frequently observed in patients affected with velo-cardio-facial syndrome (VCFS), a disorder frequently associated with deletions within 22q11.1. It has been hypothesized that psychosis in VCFS may be due to deletion of the catechol-o-methyl transferase gene. Prompted by these observations, we screened for 22q11 deletions in a population of 100 schizophrenics selected from the Maryland Epidemiological Sample. Our results show that there are schizophrenic patients carrying a deletion of 22q11.1 and a mild VCFS phenotype that might remain unrecognized. These findings should encourage a search for a schizophrenia-susceptibility gene within the deleted region and alert those in clinical practice to the possible presence of a mild VCFS phenotype associated with schizophrenia. 9 refs.

  4. Chromatin dynamics during cell cycle mediate conversion of DNA damage into chromatid breaks and affect formation of chromosomal aberrations: Biological and clinical significance

    International Nuclear Information System (INIS)

    Terzoudi, Georgia I.; Hatzi, Vasiliki I.; Donta-Bakoyianni, Catherine; Pantelias, Gabriel E.

    2011-01-01

    The formation of diverse chromosomal aberrations following irradiation and the variability in radiosensitivity at different cell-cycle stages remain a long standing controversy, probably because most of the studies have focused on elucidating the enzymatic mechanisms involved using simple DNA substrates. Yet, recognition, processing and repair of DNA damage occur within the nucleoprotein complex of chromatin which is dynamic in nature, capable of rapid unfolding, disassembling, assembling and refolding. The present work reviews experimental work designed to investigate the impact of chromatin dynamics and chromosome conformation changes during cell-cycle in the formation of chromosomal aberrations. Using conventional cytogenetics and premature chromosome condensation to visualize interphase chromatin, the data presented support the hypothesis that chromatin dynamic changes during cell-cycle are important determinants in the conversion of sub-microscopic DNA lesions into chromatid breaks. Consequently, the type and yield of radiation-induced chromosomal aberrations at a given cell-cycle-stage depends on the combined effect of DNA repair processes and chromatin dynamics, which is cell-cycle-regulated and subject to up- or down-regulation following radiation exposure or genetic alterations. This new hypothesis is used to explain the variability in radiosensitivity observed at various cell-cycle-stages, among mutant cells and cells of different origin, or among different individuals, and to revisit unresolved issues and unanswered questions. In addition, it is used to better understand hypersensitivity of AT cells and to provide an improved predictive G2-assay for evaluating radiosensitivity at individual level. Finally, experimental data at single cell level obtained using hybrid cells suggest that the proposed hypothesis applies only to the irradiated component of the hybrid.

  5. Mitotic chromosome condensation in vertebrates

    International Nuclear Information System (INIS)

    Vagnarelli, Paola

    2012-01-01

    Work from several laboratories over the past 10–15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292–301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories—a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307–316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in the localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119–1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579–589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different

  6. Mitotic chromosome condensation in vertebrates

    Energy Technology Data Exchange (ETDEWEB)

    Vagnarelli, Paola, E-mail: P.Vagnarelli@ed.ac.uk

    2012-07-15

    Work from several laboratories over the past 10-15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292-301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories-a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307-316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in the localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119-1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579-589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different classes

  7. The Imbalance of Water in Nature as System

    Science.gov (United States)

    Kontar, V. A.; Imbalance of Water in Nature

    2011-12-01

    Consider some of the water-containing area. Choose some the factors which we consider important to the system. The system contains a system factors, and the external environment these factors doesn't contain. Between the system and the external environment must be some flows into the system, out of the system and along the border. If the flows into and out of the system are not equal, that means within the system exactly something is happening. But the equality of the flows into and out of the system does not mean that within the system nothing happens. It is extremely important to determine the time factor. Everything has a beginning and an end. Each factor has its own life from 0 to 1, as well as their watches. Thus that within the system and the environment at the same time are going a lot of the watches and each watch is going by their own pace. System-wide time is needed to describe the system as a whole and to be able to re-measure the individual time of each factor. It is also very important to identify each factor of the system, environment and border. Definition of each particular factor depends on the level of our knowledge. There are many examples where one factor was divided into several, and vice versa, several factors have combined in one or even disappear as a non-existent. Each factor is determined by specific people for reasons of convenience, the specific of tasks, the possible accuracy of measurement, available resources, etc. The development of the science and applications are going to the direction of the clearer separation of factors and the precision of their measurements. Now is extremely important to more clearly define the boundaries of systems, factors and the allowed accuracy of their measurements. With such a revision, many previously balanced situations become to the imbalance. There are many specific details for each case, but they do not change the basic approach described above. If not clearly resolved the questions listed above so

  8. Policy and organizational implications of gender imbalance in the NHS.

    Science.gov (United States)

    Miller, Karen

    2007-01-01

    The purpose of the paper is to examine the policy and organizational implications of gender imbalance in management, which research suggests exists in the NHS. The research in this paper involved a qualitative approach with an analysis of elite interviews conducted with a non-random sample of officials involved in health policy and interviews with a random sample of senior managers in NHS Scotland. The research formed part of a larger study, which explored the enablers and inhibitors to female career progression in various Scottish sectors. The paper finds that gender imbalance in management exists in the NHS. This is manifested in a masculine organizational context, leadership and policy decision-making process, which have implications for female career advancement opportunities and subsequently access to macro policy decisions. The paper involved a sample (30 percent) of senior managers and examined policy processes in NHS Scotland. To improve the external validity of the findings further research should be conducted in NHS organizations in England and Wales. The findings in the paper suggest that gender imbalance in management and a masculine organizational context and leadership style within the NHS create a less than conducive environment for female employees. This has practical implications in terms of levels of part-time employment, career progression and attrition rates. The paper adds to the debate of gender and organizational studies by examining the health sector, which has high levels of female employment but low levels of female representation at senior management levels. The paper therefore adds to an often-neglected area of study, women in leadership and senior managerial positions. The paper is original in its approach by examining the micro and meso organizational dimensions which impact on women's ability to influence macro health policy.

  9. Gametocidal chromosomes enhancing chromosome aberration in common wheat induced by 5-azacytidine.

    Science.gov (United States)

    Su, W-Y; Cong, W-W; Shu, Y-J; Wang, D; Xu, G-H; Guo, C-H

    2013-07-08

    The gametocidal (Gc) chromosome from Aegilops spp induces chromosome mutation, which is introduced into common wheat as a tool of chromosome manipulation for genetic improvement. The Gc chromosome functions similar to a restriction-modification system in bacteria, in which DNA methylation is an important regulator. We treated root tips of wheat carrying Gc chromosomes with the hypomethylation agent 5-azacytidine; chromosome breakage and micronuclei were observed in these root tips. The frequency of aberrations differed in wheat containing different Gc chromosomes, suggesting different functions inducing chromosome breakage. Gc chromosome 3C caused the greatest degree of chromosome aberration, while Gc chromosome 3C(SAT) and 2C caused only slight chromosome aberration. Gc chromosome 3C induced different degrees of chromosome aberration in wheat varieties Triticum aestivum var. Chinese Spring and Norin 26, demonstrating an inhibition function in common wheat.

  10. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

    Science.gov (United States)

    Higgins, Anne W; Alkuraya, Fowzan S; Bosco, Amy F; Brown, Kerry K; Bruns, Gail A P; Donovan, Diana J; Eisenman, Robert; Fan, Yanli; Farra, Chantal G; Ferguson, Heather L; Gusella, James F; Harris, David J; Herrick, Steven R; Kelly, Chantal; Kim, Hyung-Goo; Kishikawa, Shotaro; Korf, Bruce R; Kulkarni, Shashikant; Lally, Eric; Leach, Natalia T; Lemyre, Emma; Lewis, Janine; Ligon, Azra H; Lu, Weining; Maas, Richard L; MacDonald, Marcy E; Moore, Steven D P; Peters, Roxanna E; Quade, Bradley J; Quintero-Rivera, Fabiola; Saadi, Irfan; Shen, Yiping; Shendure, Jay; Williamson, Robin E; Morton, Cynthia C

    2008-03-01

    Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation. These individuals can be studied to identify novel genes critical in human development and to annotate further the function of known genes. Identification and characterization of these genes is the goal of the Developmental Genome Anatomy Project (DGAP). DGAP is a multidisciplinary effort that leverages the recent advances resulting from the Human Genome Project to increase our understanding of birth defects and the process of human development. Clinically significant phenotypes of individuals enrolled in DGAP are varied and, in most cases, involve multiple organ systems. Study of these individuals' chromosomal rearrangements has resulted in the mapping of 77 breakpoints from 40 chromosomal rearrangements by FISH with BACs and fosmids, array CGH, Southern-blot hybridization, MLPA, RT-PCR, and suppression PCR. Eighteen chromosomal breakpoints have been cloned and sequenced. Unsuspected genomic imbalances and cryptic rearrangements were detected, but less frequently than has been reported previously. Chromosomal rearrangements, both balanced and unbalanced, in individuals with multiple congenital anomalies continue to be a valuable resource for gene discovery and annotation.

  11. TEMPOL increases NAD+ and improves redox imbalance in obese mice

    Directory of Open Access Journals (Sweden)

    Mayumi Yamato

    2016-08-01

    Full Text Available Continuous energy conversion is controlled by reduction–oxidation (redox processes. NAD+ and NADH represent an important redox couple in energy metabolism. 4-Hydroxy-2,2,6,6-tetramethylpiperidine-N-oxyl (TEMPOL is a redox-cycling nitroxide that promotes the scavenging of several reactive oxygen species (ROS and is reduced to hydroxylamine by NADH. TEMPOL is also involved in NAD+ production in the ascorbic acid–glutathione redox cycle. We utilized the chemical properties of TEMPOL to investigate the effects of antioxidants and NAD+/NADH modulators on the metabolic imbalance in obese mice. Increases in the NAD+/NADH ratio by TEMPOL ameliorated the metabolic imbalance when combined with a dietary intervention, changing from a high-fat diet to a normal diet. Plasma levels of the superoxide marker dihydroethidium were higher in mice receiving the dietary intervention compared with a control diet, but were normalized with TEMPOL consumption. These findings provide novel insights into redox regulation in obesity.

  12. Gender equity imbalance in electrocardiology: A call to action.

    Science.gov (United States)

    Clarke Whalen, E; Xu, G; Cygankiewicz, I; Bacharova, L; Zareba, W; Steinberg, J S; Tereshchenko, L G; Baranchuk, A

    Despite the increasing number of women entering the medical profession, senior positions and academic productivity in many fields of medicine remain to be men dominated. We explored gender equity in electrocardiology as perceived by recent academic productivity and also active participation (presidencies and board constituents) in both the International Society of Electrocardiology (ISE) and the International Society for Holter and Noninvasive Electrocardiology (ISHNE). Academic productivity was measured by authorship (first and senior) in the Journal of Electrocardiology (JECG) and the Annals of Noninvasive Electrocardiology (ANE) in 2015. The percentage of women ISE and ISHNE Presidents was 5.6% and 0%, respectively. Current women board constituents for each society was 12.1% for ISE, and 9.4% for ISHNE. JECG articles published in 2015 had considerably less women compared to men for both senior (16.3%) and first (25.3%) authorship. ANE articles published in 2015 followed the same trends in gender, having less women compared to men for both senior (9.4%) and first (19.3%) authorship. There is a gender equity imbalance in the field of Electrocardiology. Identifying a gender imbalance is important for understanding reasons behind these trends, and may also help improve gender equity in Electrocardiology. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Wikipedia Culture Gap: Quantifying Content Imbalances Across 40 Language Editions

    Directory of Open Access Journals (Sweden)

    Marc Miquel-Ribé

    2018-06-01

    Full Text Available The online encyclopedia Wikipedia is the largest general information repository created through collaborative efforts from all over the globe. Despite the project's goal being to achieve the sum of human knowledge, there are strong content imbalances across the language editions. In order to quantify and investigate these imbalances, we study the impact of cultural context in 40 language editions. To this purpose, we developed a computational method to identify articles that can be related to the editors' cultural context associated to each Wikipedia language edition. We employed a combination of strategies taking into account geolocated articles, specific keywords and categories, as well as links between articles. We verified the method's quality with manual assessment and found an average precision of 0.92 and an average recall of 0.95. The results show that about a quarter of each Wikipedia language edition is dedicated to represent the corresponding cultural context. Although a considerable part of this content was created during the first years of the project, its creation is sustained over time. An analysis of cross-language coverage of this content shows that most of it is unique in its original language, and reveals special links between cultural contexts; at the same time, it highlights gaps where the encyclopedia could extend its content. The approach and findings presented in this study can help to foster participation and inter-cultural enrichment of Wikipedias. The datasets produced are made available for further research.

  14. Hypobaric Hypoxia Imbalances Mitochondrial Dynamics in Rat Brain Hippocampus

    Directory of Open Access Journals (Sweden)

    Khushbu Jain

    2015-01-01

    Full Text Available Brain is predominantly susceptible to oxidative stress and mitochondrial dysfunction during hypobaric hypoxia, and therefore undergoes neurodegeneration due to energy crisis. Evidences illustrate a high degree of association for mitochondrial fusion/fission imbalance and mitochondrial dysfunction. Mitochondrial fusion/fission is a recently reported dynamic mechanism which frequently occurs among cellular mitochondrial network. Hence, the study investigated the temporal alteration and involvement of abnormal mitochondrial dynamics (fusion/fission along with disturbed mitochondrial functionality during chronic exposure to hypobaric hypoxia (HH. The Sprague-Dawley rats were exposed to simulated high altitude equivalent to 25000 ft for 3, 7, 14, 21, and 28 days. Mitochondrial morphology, distribution within neurons, enzyme activity of respiratory complexes, Δψm, ADP: ATP, and expression of fission/fusion key proteins were determined. Results demonstrated HH induced alteration in mitochondrial morphology by damaged, small mitochondria observed in neurons with disturbance of mitochondrial functionality and reduced mitochondrial density in neuronal processes manifested by excessive mitochondrial fragmentation (fission and decreased mitochondrial fusion as compared to unexposed rat brain hippocampus. The study suggested that imbalance in mitochondrial dynamics is one of the noteworthy mechanisms occurring in hippocampal neurons during HH insult.

  15. The effect of spinal manipulation on imbalances in leg strength.

    Science.gov (United States)

    Chilibeck, Philip D; Cornish, Stephen M; Schulte, Al; Jantz, Nathan; Magnus, Charlene R A; Schwanbeck, Shane; Juurlink, Bernhard H J

    2011-09-01

    We hypothesized that spinal manipulation (SM) would reduce strength imbalances between legs. Using an un-blinded randomized design, 28 males and 21 females (54 ± 19y) with at least a 15% difference in isometric strength between legs for hip flexion, extension, abduction, or knee flexion were randomized to treatment or placebo (mock spinal manipulation). Strength of the stronger and weaker legs for hip flexion, extension, abduction, and/or knee flexion was assessed before and after the intervention. SM reduced the relative strength difference between legs for knee flexion (mean ± SD 57 ± 53 to 5 ± 14%) and hip flexion (24 ± 12 to 11 ± 15%) compared to placebo (34 ± 29 to 24 ± 36%, and 20 ± 18 to 22 ± 26%, respectively) (p = 0.05). SM also improved strength in the weak leg for hip abduction (104 ± 43 to 116 ± 43 Nm) compared to placebo (84 ± 24 to 85 ± 31 Nm) (p = 0.03). This study suggests that spinal manipulation may reduce imbalances in strength between legs for knee and hip flexion.

  16. Mass imbalances in EPANET water-quality simulations

    Energy Technology Data Exchange (ETDEWEB)

    Davis, Michael J.; Janke, Robert; Taxon, Thomas N.

    2018-04-06

    EPANET is widely employed to simulate water quality in water distribution systems. However, the time-driven simulation approach used to determine concentrations of water-quality constituents provides accurate results, in general, only for small water-quality time steps; use of an adequately short time step may not be feasible. Overly long time steps can yield errors in concentrations and result in situations in which constituent mass is not conserved. Mass may not be conserved even when EPANET gives no errors or warnings. This paper explains how such imbalances can occur and provides examples of such cases; it also presents a preliminary event-driven approach that conserves mass with a water-quality time step that is as long as the hydraulic time step. Results obtained using the current approach converge, or tend to converge, to those obtained using the new approach as the water-quality time step decreases. Improving the water-quality routing algorithm used in EPANET could eliminate mass imbalances and related errors in estimated concentrations.

  17. Chromosome fragility in Freemartin cattle

    Directory of Open Access Journals (Sweden)

    V. Barbieri

    2010-04-01

    Full Text Available The aim of the present study was to verify chromosome fragility in freemartin cattle using chromosome aberration (CA and sister chromatid exchange (SCE tests. A total of eighteen co-twins were investigated. Fourteen animals were identified as cytogenetically chimeric (2n=60, XX/XY while 4 were classified as normal. Freemartin cattle showed a higher percentage of aneuploid cells (18.64% and highly significant statistical differences (P < 0.001 in mean values of gaps (4.53 ± 2.05, chromatid breaks (0.26 ± 0.51, and significant statistical differences (P < 0.005 in mean values of chromosome breaks (0.12 ± 0.43 when compared to 10 control animals from single births (aneuploid cells, 11.20%; gaps, 2.01 ± 1.42; chromatid breaks, 0.05 ± 0.22; chromosome breaks, 0.02 ± 0.14.

  18. Are There Knots in Chromosomes?

    Directory of Open Access Journals (Sweden)

    Jonathan T. Siebert

    2017-08-01

    Full Text Available Recent developments have for the first time allowed the determination of three-dimensional structures of individual chromosomes and genomes in nuclei of single haploid mouse embryonic stem (ES cells based on Hi–C chromosome conformation contact data. Although these first structures have a relatively low resolution, they provide the first experimental data that can be used to study chromosome and intact genome folding. Here we further analyze these structures and provide the first evidence that G1 phase chromosomes are knotted, consistent with the fact that plots of contact probability vs sequence separation show a power law dependence that is intermediate between that of a fractal globule and an equilibrium structure.

  19. Flow cytogenetics and chromosome sorting.

    Science.gov (United States)

    Cram, L S

    1990-06-01

    This review of flow cytogenetics and chromosome sorting provides an overview of general information in the field and describes recent developments in more detail. From the early developments of chromosome analysis involving single parameter or one color analysis to the latest developments in slit scanning of single chromosomes in a flow stream, the field has progressed rapidly and most importantly has served as an important enabling technology for the human genome project. Technological innovations that advanced flow cytogenetics are described and referenced. Applications in basic cell biology, molecular biology, and clinical investigations are presented. The necessary characteristics for large number chromosome sorting are highlighted. References to recent review articles are provided as a starting point for locating individual references that provide more detail. Specific references are provided for recent developments.

  20. Algorithm for sorting chromosomal aberrations

    DEFF Research Database (Denmark)

    Vogel, Ida; Lund, Najaaraq; Rasmussen, Steen

    2018-01-01

    Prenatal diagnostic methods and screening procedures change rapidly in these years. Years ago only karyotyping was performed prenatally, and we monitored only Down syndrome(1) . Since then the diagnostic possibilities have increased to QF-PCR, FISH, MLPA and chromosomal microarray.......Prenatal diagnostic methods and screening procedures change rapidly in these years. Years ago only karyotyping was performed prenatally, and we monitored only Down syndrome(1) . Since then the diagnostic possibilities have increased to QF-PCR, FISH, MLPA and chromosomal microarray....

  1. Diagnostic radiation and chromosome aberrations

    International Nuclear Information System (INIS)

    Patil, S.R.; Hecht, F.; Lubs, H.A.; Kimberling, W.; Brown, J.; Gerald, P.S.; Summitt, R.L.

    1977-01-01

    Some evidence is presented suggesting that diagnostic X-rays may be important in the origin of a new chromosomal abnormality other than Down syndrome. Chromosome analyses have been carried out on 4342 children, seven or eight years old. Maternal diagnostic irradiation in the year before conception and up to third lunar month of the index pregnancy was recorded, before the chromosome study began, together with a large amount of family and clinical data. Information on X-ray exposure was supplied by the mothers, s o radiation dosage could not be estimated. 21 children (including a pair of twins and a pair of siblings) born to 19 mothers had chromosomal aberrations. The mothers of six children with inherited translocations, rearrangements and XYY karyotypes were excluded, and 3 (23%) of the remaining 13 mothers had received abdominal and pelvic X-ray exposures. In the whole sample, however, only 6% of the mothers had diagnostic irradiation. Two of these mothers, aged sixteen and twenty, gave birth to a child each with de-novo autosomal translocations, and the third mother, aged thirty-two, had a child with a complex mosaicism involving one X chromosome. Although the sample size of the mothers with chromosomally abnormal children is small, the results are significant. (U.K.)

  2. Diagnostic radiation and chromosome aberrations

    Energy Technology Data Exchange (ETDEWEB)

    Patil, S R; Hecht, F [Dept. of Pediatrics, Child Development and Rehabilitation Center, Univ. of Oregon Health Sciences Center, Portland, Oregon (USA); Lubs, H A; Kimberling, W; Brown, J; Gerald, P S; Summitt, R L

    1977-01-15

    Some evidence is presented suggesting that diagnostic X-rays may be important in the origin of a new chromosomal abnormality other than Down syndrome. Chromosome analyses have been carried out on 4342 children, seven or eight years old. Maternal diagnostic irradiation in the year before conception and up to third lunar month of the index pregnancy was recorded, before the chromosome study began, together with a large amount of family and clinical data. Information on X-ray exposure was supplied by the mothers, so radiation dosage could not be estimated. 21 children (including a pair of twins and a pair of siblings) born to 19 mothers had chromosomal aberrations. The mothers of six children with inherited translocations, rearrangements and XYY karyotypes were excluded, and 3 (23%) of the remaining 13 mothers had received abdominal and pelvic X-ray exposures. In the whole sample, however, only 6% of the mothers had diagnostic irradiation. Two of these mothers, aged sixteen and twenty, gave birth to a child each with de-novo autosomal translocations, and the third mother, aged thirty-two, had a child with a complex mosaicism involving one X chromosome. Although the sample size of the mothers with chromosomally abnormal children is small, the results are significant.

  3. Designing of plant artificial chromosome (PAC) by using the Chlorella smallest chromosome as a model system.

    Science.gov (United States)

    Noutoshi, Y; Arai, R; Fujie, M; Yamada, T

    1997-01-01

    As a model for plant-type chromosomes, we have been characterizing molecular organization of the Chlorella vulgaris C-169 chromosome I. To identify chromosome structural elements including the centromeric region and replication origins, we constructed a chromosome I specific cosmid library and aligned each cosmid clones to generate contigs. So far, more than 80% of the entire chromosome I has been covered. A complete clonal physical reconstitution of chromosome I provides information on the structure and genomic organization of plant genome. We propose our strategy to construct an artificial chromosome by assembling the functional chromosome structural elements identified on Chrorella chromosome I.

  4. Botulinum toxin for the treatment of motor imbalance in obstetrical brachial plexus palsy.

    Science.gov (United States)

    Arad, Ehud; Stephens, Derek; Curtis, Christine G; Clarke, Howard M

    2013-06-01

    Residual muscle imbalance is a common problem affecting obstetrical brachial plexus palsy patients. The goal of this study was to examine the efficacy of botulinum toxin type A (Botox) in improving this muscle imbalance. The authors retrospectively reviewed obstetrical brachial plexus palsy patients treated with Botox for muscle imbalance as an isolated procedure. Outcomes were the change in Active Movement Scale scores from pre-Botox scores to scores at 1 month after Botox and 1 year after Botox. Twenty-seven patients were included, 19 treated for shoulder imbalance and eight treated for elbow imbalance. Active Movement Scale scores (mean±SD) for shoulder external rotation improved from 0.6±1.0 before Botox to 2.6±2.14 (pimbalance produces improvement in external rotation that is not sufficiently sustained over time to be of clinical benefit. However, Botox for elbow movement imbalance produces a sustained and clinically useful improvement. Therapeutic, IV.

  5. Itinerant ferromagnetism in an atomic Fermi gas: Influence of population imbalance

    International Nuclear Information System (INIS)

    Conduit, G. J.; Simons, B. D.

    2009-01-01

    We investigate ferromagnetic ordering in an itinerant ultracold atomic Fermi gas with repulsive interactions and population imbalance. In a spatially uniform system, we show that at zero temperature the transition to the itinerant magnetic phase transforms from first to second order with increasing population imbalance. Drawing on these results, we elucidate the phases present in a trapped geometry, finding three characteristic types of behavior with changing population imbalance. Finally, we outline the potential experimental implications of the findings.

  6. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

    Science.gov (United States)

    Bartholdi, Deborah; Toelle, Sandra P; Steiner, Bernhard; Boltshauser, Eugen; Schinzel, Albert; Riegel, Mariluce

    2008-01-01

    Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and additional malformations. We report on a boy with blepharophimosis, ptosis and severe mental retardation carrying an unbalanced 4;10 translocation with terminal duplication of 10q [dup(10)(q25.1-->qter)] and monosomy of a small terminal segment of chromosome 4q [del(4)(34.3-->qter)]. Detailed clinical examination and review of the literature showed that the phenotype of the patient was mainly determined by the dup(10q). This paper reviews the chromosomal aberrations associated with BMR (blepharophimosis mental retardation) phenotypes. Searching different databases and reviewing the literature revealed 14 microscopically visible aberrations (among them UPD(14)pat) and two submicroscopic rearrangements causing blepharophimosis and mental retardation (BMR) syndrome. Some of these rearrangements-like the terminal dup(10q) identified in our patient or interstitial del(2q)-are associated with clearly defined phenotypes and can be well distinguished from each other on basis of clinical examination. This paper should assist clinicians and cytogeneticists when evaluating patients with BMR syndrome.

  7. Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

    Directory of Open Access Journals (Sweden)

    Jonathon Blake

    Full Text Available Balanced chromosome abnormalities (BCAs occur at a high frequency in healthy and diseased individuals, but cost-efficient strategies to identify BCAs and evaluate whether they contribute to a phenotype have not yet become widespread. Here we apply genome-wide mate-pair library sequencing to characterize structural variation in a patient with unclear neurodevelopmental disease (NDD and complex de novo BCAs at the karyotype level. Nucleotide-level characterization of the clinically described BCA breakpoints revealed disruption of at least three NDD candidate genes (LINC00299, NUP205, PSMD14 that gave rise to abnormal mRNAs and could be assumed as disease-causing. However, unbiased genome-wide analysis of the sequencing data for cryptic structural variation was key to reveal an additional submicroscopic inversion that truncates the schizophrenia- and bipolar disorder-associated brain transcription factor ZNF804A as an equally likely NDD-driving gene. Deep sequencing of fluorescent-sorted wild-type and derivative chromosomes confirmed the clinically undetected BCA. Moreover, deep sequencing further validated a high accuracy of mate-pair library sequencing to detect structural variants larger than 10 kB, proposing that this approach is powerful for clinical-grade genome-wide structural variant detection. Our study supports previous evidence for a role of ZNF804A in NDD and highlights the need for a more comprehensive assessment of structural variation in karyotypically abnormal individuals and patients with neurocognitive disease to avoid diagnostic deception.

  8. Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation

    Science.gov (United States)

    Blake, Jonathon; Riddell, Andrew; Theiss, Susanne; Gonzalez, Alexis Perez; Haase, Bettina; Jauch, Anna; Janssen, Johannes W. G.; Ibberson, David; Pavlinic, Dinko; Moog, Ute; Benes, Vladimir; Runz, Heiko

    2014-01-01

    Balanced chromosome abnormalities (BCAs) occur at a high frequency in healthy and diseased individuals, but cost-efficient strategies to identify BCAs and evaluate whether they contribute to a phenotype have not yet become widespread. Here we apply genome-wide mate-pair library sequencing to characterize structural variation in a patient with unclear neurodevelopmental disease (NDD) and complex de novo BCAs at the karyotype level. Nucleotide-level characterization of the clinically described BCA breakpoints revealed disruption of at least three NDD candidate genes (LINC00299, NUP205, PSMD14) that gave rise to abnormal mRNAs and could be assumed as disease-causing. However, unbiased genome-wide analysis of the sequencing data for cryptic structural variation was key to reveal an additional submicroscopic inversion that truncates the schizophrenia- and bipolar disorder-associated brain transcription factor ZNF804A as an equally likely NDD-driving gene. Deep sequencing of fluorescent-sorted wild-type and derivative chromosomes confirmed the clinically undetected BCA. Moreover, deep sequencing further validated a high accuracy of mate-pair library sequencing to detect structural variants larger than 10 kB, proposing that this approach is powerful for clinical-grade genome-wide structural variant detection. Our study supports previous evidence for a role of ZNF804A in NDD and highlights the need for a more comprehensive assessment of structural variation in karyotypically abnormal individuals and patients with neurocognitive disease to avoid diagnostic deception. PMID:24625750

  9. Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report

    Directory of Open Access Journals (Sweden)

    Hamid Ahmed B

    2010-08-01

    Full Text Available Abstract Introduction Small supernumerary marker chromosomes are still a problem in cytogenetic diagnostic and genetic counseling. This holds especially true for the rare cases with multiple small supernumerary marker chromosomes. Most such cases are reported to be clinically severely affected due to the chromosomal imbalances induced by the presence of small supernumerary marker chromosomes. Here we report the first case of a patient having four different small supernumerary marker chromosomes which, apart from slight developmental retardation in youth and non-malignant hyperpigmentation, presented no other clinical signs. Case presentation Our patient was a 30-year-old Caucasian man, delivered by caesarean section because of macrosomy. At birth he presented with bilateral cryptorchidism but no other birth defects. At age of around two years he showed psychomotor delay and a bilateral convergent strabismus. Later he had slight learning difficulties, with normal social behavior and now lives an independent life as an adult. Apart from hypogenitalism, he has multiple hyperpigmented nevi all over his body, short feet with pes cavus and claw toes. At age of 30 years, cytogenetic and molecular cytogenetic analysis revealed a karyotype of 50,XY,+min(6(:p11.1-> q11.1:,+min(8(:p11.1->q11.1:,+min(11(:p11.11->q11:,+min(12(:p11.2~12->q10:, leading overall to a small partial trisomy in 12p11.1~12.1. Conclusions Including this case, four single case reports are available in the literature with a karyotype 50,XN,+4mar. For prenatally detected multiple small supernumerary marker chromosomes in particular we learn from this case that such a cytogenetic condition may be correlated with a positive clinical outcome.

  10. Pedicle subtraction osteotomy in elderly patients with degenerative sagittal imbalance.

    Science.gov (United States)

    Cho, Kyu-Jung; Kim, Ki-Tack; Kim, Whoan-Jeang; Lee, Sang-Hoon; Jung, Jae-Hoon; Kim, Young-Tae; Park, Hae-Bong

    2013-11-15

    Retrospective, radiographical analysis. To evaluate pedicle subtraction osteotomy (PSO) as a means of correcting severe degenerative sagittal imbalance in elderly patients. PSO in patients with degenerative sagittal imbalance is likely to cause more complications than in patients with iatrogenic flatback deformity. This study analyzed 34 patients who underwent fusion to the sacrum, with a minimum 2-year follow-up. Age of the patients were in the range from 58 to 73 with the mean at 65.5 years. PSO was performed at one segment in all cases, consisting of L3 (n = 26), L4 (n = 4), L2 (n = 3), and L1 (n = 1). The average number of levels fused was 8.15. Ten patients had structural interbody fusion at the lumbosacral junction. Applying PSO at one segment, the mean correction of the lordotic angle at the osteotomy site was 33.3°, of which the loss of correction (LOC) was 4.0° at the last visit. The correction of lumbar lordosis was 33.7° and the LOC was 8.5°. The sagittal C7 plumb was 215.9 mm before surgery, corrected to 35.1 mm after surgery, and changed to 95.9 mm by the last visit. The correction of the sagittal C7 plumb was 119.9 mm and the LOC was 60.9 mm. There was substantial LOC in lumbar lordosis and sagittal C7 plumb. In 10 patients with addition of posterior lumbar interbody fusion, the LOC of lumbar lordosis was 7.4°, which was less than 9° in those without it. PSO for the correction of degenerative sagittal imbalance in elderly patients resulted in correction of sagittal alignment with a significant LOC of lumbar lordosis and sagittal C7 plumb. The LOC of lumbar lordosis occurred at both the osteotomy and non-osteotomy site. The addition of anterior column support is helpful to maintain correction and reduce complications. N/A.

  11. Postural Consequences of Cervical Sagittal Imbalance: A Novel Laboratory Model.

    Science.gov (United States)

    Patwardhan, Avinash G; Havey, Robert M; Khayatzadeh, Saeed; Muriuki, Muturi G; Voronov, Leonard I; Carandang, Gerard; Nguyen, Ngoc-Lam; Ghanayem, Alexander J; Schuit, Dale; Patel, Alpesh A; Smith, Zachary A; Sears, William

    2015-06-01

    A biomechanical study using human spine specimens. To study postural compensations in lordosis angles that are necessary to maintain horizontal gaze in the presence of forward head posture and increasing T1 sagittal tilt. Forward head posture relative to the shoulders, assessed radiographically using the horizontal offset distance between the C2 and C7 vertebral bodies (C2-C7 [sagittal vertical alignment] SVA), is a measure of global cervical imbalance. This may result from kyphotic alignment of cervical segments, muscle imbalance, as well as malalignment of thoracolumbar spine. Ten cadaveric cervical spines (occiput-T1) were tested. The T1 vertebra was anchored to a tilting and translating base. The occiput was free to move vertically but its angular orientation was constrained to ensure horizontal gaze regardless of sagittal imbalance. A 5-kg mass was attached to the occiput to mimic head weight. Forward head posture magnitude and T1 tilt were varied and motions of individual vertebrae were measured to calculate C2-C7 SVA and lordosis across C0-C2 and C2-C7. Increasing C2-C7 SVA caused flexion of lower cervical (C2-C7) segments and hyperextension of suboccipital (C0-C1-C2) segments to maintain horizontal gaze. Increasing kyphotic T1 tilt primarily increased lordosis across the C2-C7 segments. Regression models were developed to predict the compensatory C0-C2 and C2-C7 angulation needed to maintain horizontal gaze given values of C2-C7 SVA and T1 tilt. This study established predictive relationships between radiographical measures of forward head posture, T1 tilt, and postural compensations in the cervical lordosis angles needed to maintain horizontal gaze. The laboratory model predicted that normalization of C2-C7 SVA will reduce suboccipital (C0-C2) hyperextension, whereas T1 tilt reduction will reduce the hyperextension in the C2-C7 segments. The predictive relationships may help in planning corrective strategy in patients experiencing neck pain, which may be

  12. Consensus-based Distributed Control for Accurate Reactive, Harmonic and Imbalance Power Sharing in Microgrids

    DEFF Research Database (Denmark)

    Zhou, Jianguo; Kim, Sunghyok; Zhang, Huaguang

    2018-01-01

    This paper investigates the issue of accurate reactive, harmonic and imbalance power sharing in a microgrid. Harmonic and imbalance droop controllers are developed to proportionally share the harmonic power and the imbalance power among distributed generation (DG) units and improve the voltage...... voltage. With the proposed methods, the microgrid system reliability and flexibility can be enhanced and the knowledge of the line impedance is not required. And the reactive, harmonic and imbalance power can be proportionally shared among the DG units. Moreover, the quality of the voltage at PCC can...

  13. Wet cupping therapy restores sympathovagal imbalances in cardiac rhythm.

    Science.gov (United States)

    Arslan, Müzeyyen; Yeşilçam, Nesibe; Aydin, Duygu; Yüksel, Ramazan; Dane, Senol

    2014-04-01

    A recent study showed that cupping had therapeutic effects in rats with myocardial infarction and cardiac arrhythmias. The current studyaimed to investigate the possible useful effects of cupping therapy on cardiac rhythm in terms of heart rate variability (HRV). Forty healthy participants were included. Classic wet cupping therapy was applied on five points of the back. Recording electrocardiography (to determine HRV) was applied 1 hour before and 1 hour after cupping therapy. All HRV parameters increased after cupping therapy compared with before cupping therapy in healthy persons. These results indicate for the first time in humans that cupping might be cardioprotective. In this study, cupping therapy restored sympathovagal imbalances by stimulating the peripheral nervous system.

  14. Redox Imbalance and Viral Infections in Neurodegenerative Diseases

    Directory of Open Access Journals (Sweden)

    Dolores Limongi

    2016-01-01

    Full Text Available Reactive oxygen species (ROS are essential molecules for many physiological functions and act as second messengers in a large variety of tissues. An imbalance in the production and elimination of ROS is associated with human diseases including neurodegenerative disorders. In the last years the notion that neurodegenerative diseases are accompanied by chronic viral infections, which may result in an increase of neurodegenerative diseases progression, emerged. It is known in literature that enhanced viral infection risk, observed during neurodegeneration, is partly due to the increase of ROS accumulation in brain cells. However, the molecular mechanisms of viral infection, occurring during the progression of neurodegeneration, remain unclear. In this review, we discuss the recent knowledge regarding the role of influenza, herpes simplex virus type-1, and retroviruses infection in ROS/RNS-mediated Parkinson’s disease (PD, Alzheimer’s disease (AD, and amyotrophic lateral sclerosis (ALS.

  15. Investigation of Global Imbalances Based on a Gravity Model

    Directory of Open Access Journals (Sweden)

    Hyun-Hoon Lee

    2011-06-01

    Full Text Available Using the US Treasury International Capital (TIC data, this paper attempts to analyze the size and trend of foreign investment in the U.S. in the form of equities, bonds and bank lending during the period of 2001-2007. In addition, this paper assesses the determinants of foreign investment in the U.S., using the financial gravity model which includes an East Asian dummy as an explanatory variable. The results show that most East Asian countries have invested more in the U.S. than the optimal level suggested by the gravity model. Such an over-investment is more evident in long-term bond investment than in equity investment or bank lending. Thus, the results confirm that global imbalance does exist between East Asian countries and the U.S.

  16. Evaluating imbalances of adverse events during biosimilar development

    Science.gov (United States)

    Vana, Alicia M.; Freyman, Amy W.; Reich, Steven D.; Yin, Donghua; Li, Ruifeng; Anderson, Scott; Jacobs, Ira A.; Zacharchuk, Charles M.; Ewesuedo, Reginald

    2016-01-01

    ABSTRACT Biosimilars are designed to be highly similar to approved or licensed (reference) biologics and are evaluated based on the totality of evidence from extensive analytical, nonclinical and clinical studies. As part of the stepwise approach recommended by regulatory agencies, the first step in the clinical evaluation of biosimilarity is to conduct a pharmacokinetics similarity study in which the potential biosimilar is compared with the reference product. In the context of biosimilar development, a pharmacokinetics similarity study is not necessarily designed for a comparative assessment of safety. Development of PF-05280014, a potential biosimilar to trastuzumab, illustrates how a numerical imbalance in an adverse event in a small pharmacokinetics study can raise questions on safety that may require additional clinical trials. PMID:27050730

  17. Effort-reward imbalance and depression among private practice physicians.

    Science.gov (United States)

    Tsutsumi, Akizumi; Kawanami, Shoko; Horie, Seichi

    2012-02-01

    Current private practice physicians provide medical services in a harsh economic situation. The effort-reward imbalance (ERI) model puts its emphasis on an imbalance between high efforts spent and low rewards received in occupational life. ERI model includes three different reward factors from task to organizational levels. We examined whether ERI in terms of low organizational reward (poor prospective and job insecurity) could be the most relevant and strongly associated with depression among private practice physicians. This is a cross-sectional questionnaire study of 1,103 private practice physicians who were currently working in clinical settings and completed the data of exposure and outcome. The study questionnaire was mailed to all the physicians listed as members of a local branch of the Japan Medical Association (n = 3,441) between November and December 2008. Outcomes were prevalence of depression as measured by the Center for Epidemiologic Studies Depression Scale and adjusted odds ratios (OR) of depression with respect to ERI. Fifty-seven percent of physicians were exposed to ERI, and 18% of the physicians were depressed. Logistic regression analyses revealed that ERI was significantly associated with depression (OR and 95% confidence interval = 3.57; 2.43-5.26). ERI with regard to organizational reward was most prevalent (60%) and had the strongest association with depression (5.14; 3.36-7.92). Predominant prevalence of ERI in terms of organizational level low reward and strong associations between the ERI component and depression suggests that countermeasures from social perspective are crucial.

  18. Propensity to obesity impacts the neuronal response to energy imbalance

    Directory of Open Access Journals (Sweden)

    Marc-Andre eCornier

    2015-02-01

    Full Text Available The mechanisms responsible for the propensity to gain weight or remain normal weight are poorly understood. The objective of this study was to study the neuronal response to visual food cues during short-term energy imbalance in healthy adults recruited as obesity-resistant (OR or obesity-prone (OP based on self-identification, BMI, and personal/family weight history. 25 OR and 28 OP subjects were studied in underfed (UF and overfed (OF as compared to eucaloric (EU conditions in a randomized crossover design. Each study phase included a 3 day run-in diet, 1 day of controlled feeding (basal energy needs for EU, 40% above/below basal energy needs for OF/UF, and a test day. On the test day fMRI was performed in the acute fed stated (30 minutes after a test meal while subjects viewed images of foods of high hedonic value and neutral non-food objects. Measures of appetite and hormones were also performed before and every 30 minutes after the test meal. UF was associated with significantly increased activation of insula, somatosensory cortex, inferior and medial prefrontal cortex, parahippocampus, precuneus, cingulate and visual cortex in OR. However, UF had no impact in OP. As a result, UF was associated with significantly greater activation, specifically in the insula, inferior prefrontal cortex, and somatosensory cortex in OR as compared to OP. While OF was overall associated with reduced activation of inferior visual cortex, no group interaction was observed with OF. In summary, these findings suggest that individuals resistant to weight gain and obesity are more sensitive to short-term energy imbalance, particularly with UF, than those prone to weight gain. The inability to sense or adapt to changes in energy balance may represent an important mechanism contributing to excess energy intake and risk for obesity.

  19. Propensity to obesity impacts the neuronal response to energy imbalance.

    Science.gov (United States)

    Cornier, Marc-Andre; McFadden, Kristina L; Thomas, Elizabeth A; Bechtell, Jamie L; Bessesen, Daniel H; Tregellas, Jason R

    2015-01-01

    The mechanisms responsible for the propensity to gain weight or remain normal weight are poorly understood. The objective of this study was to study the neuronal response to visual food cues during short-term energy imbalance in healthy adults recruited as obesity-resistant (OR) or obesity-prone (OP) based on self-identification, body mass index, and personal/family weight history. Twenty-five OR and 28 OP subjects were studied in underfed (UF) and overfed (OF) as compared to eucaloric (EU) conditions in a randomized crossover design. Each study phase included a 3-day run-in diet, 1 day of controlled feeding (basal energy needs for EU, 40% above/below basal energy needs for OF/UF), and a test day. On the test day, fMRI was performed in the acute fed stated (30 min after a test meal) while subjects viewed images of foods of high hedonic value and neutral non-food objects. Measures of appetite and hormones were also performed before and every 30 min after the test meal. UF was associated with significantly increased activation of insula, somatosensory cortex, inferior and medial prefrontal cortex (PFC), parahippocampus, precuneus, cingulate, and visual cortex in OR. However, UF had no impact in OP. As a result, UF was associated with significantly greater activation, specifically in the insula, inferior PFC, and somatosensory cortex in OR as compared to OP. While OF was overall associated with reduced activation of inferior visual cortex, no group interaction was observed with OF. In summary, these findings suggest that individuals resistant to weight gain and obesity are more sensitive to short-term energy imbalance, particularly with UF, than those prone to weight gain. The inability to sense or adapt to changes in energy balance may represent an important mechanism contributing to excess energy intake and risk for obesity.

  20. Transmission of chromosomal and instability via a chromosome irradiated with ionizing radiation

    International Nuclear Information System (INIS)

    Kodama, Seiji; Tanabe, Masateru; Shiraishi, Kazunori; Oshimura, Mitsuo

    2010-01-01

    We examined the stability of the transferred chromosome in 5 and 12 microcell hybrids including unirradiated human chromosomes 6 and 8, respectively, and 6 and 19 microcell hybrids including 4 Gy-irradiated human chromosomes 6 and 8, respectively. The transferred chromosome was structurally stable in most microcell hybrids transferred with the unirradiated chromosomes 6 and 8. In contrast, the 4 Gy-irradiated human chromosomes were unstable in 3 out of 6 hybrids (50%) with chromosome 6 and 3 out of 19 hybrids (16%) with chromosome 8, showing multiple aberrations in high frequencies (35∼98%). To know the cause of delayed chromosomal instability, intrachromosomal rearrangements of the human chromosome is investigated by subtelomere FISH in 17 microcell hybrids transferred with chromosomes 6 and 8. We found frequent intrachromosomal in 7 microcell hybrids (41%). However, no clear correlation was observed between the intrachromosomal rearrangements and the induction of delayed chromosomal instability by ionizing radiation

  1. First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

    Directory of Open Access Journals (Sweden)

    Lindsay B. Henderson

    2013-01-01

    Full Text Available Holoprosencephaly (HPE is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7 have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7, molecularly characterized using array comparative genomic hybridization.

  2. Retrospective dosimetry using chromosome painting

    International Nuclear Information System (INIS)

    Nasazzi, N.B.; Giorgio, M.D.; Taja, M.R.

    2000-01-01

    Chromosome aberration frequency measured in peripheral lymphocytes of persons exposed to ionizing radiation has been used since 1960s for dose assessment. Suspected overexposure is usually evaluated by the frequency of dicentrics and centric rings using an appropriate in vitro calibration curve. However, these chromosome aberrations are unstable with time after exposure and dose reconstruction may encounter uncertainties when the time between the exposure and the analysis is considerable or even unknown. It appears that translocations persist with time after exposure and may be used as an indication of acute past overexposures. Moreover, they appear to accumulate the cytogenetical information, which correlates with the dose received under fractionated, chronic or even occupational exposure conditions. Translocations may be detected using G-banding, which allows to score the total amount of radiation induced translocations but it is a time consuming method, or by Chromosome Painting, a method base on the Fluorescence in situ Hybridization (FISH) technique, painting only some chromosome pairs with specific whole chromosome probes and then extrapolating the observed translocation frequencies to the full genome. The latter method allows a faster aberration scoring than G-banding and appears to be the most promissory tool for biodosimetry, particularly when it is necessary to assess low doses and consequently to score a large number of metaphases, e.g. radiation workers exposed within dose limits. As with the unstable chromosome aberration, it is necessary an in vitro calibration curve based on the frequency of stable chromosome aberrations to assess doses. Our laboratory performed calibration curves for Co 60 γ-rays based on the frequencies of unstable (dicentrics and centric rings detected by conventional Giemsa staining) and stable chromosome aberrations (translocations and inversions, detected by G-banding). In order to minimize the interlaboratory variability, we

  3. Radiation-induced chromosomal instability

    International Nuclear Information System (INIS)

    Ritter, S.

    1999-01-01

    Recent studies on radiation-induced chromosomal instability in the progeny of exposed mammalian cells were briefly described as well as other related studies. For the analysis of chromosomal damage in clones, cells were seeded directly after exposure in cell well-dish to form single cell clones and post-irradiation chromosome aberrations were scored. Both exposure to isoeffective doses of X-ray or 270 MeV/u C-ions (13 keV/μm) increased the number of clones with abnormal karyotype and the increase was similar for X-ray and for C-ions. Meanwhile, in the progeny of cells for mass cultures, there was no indication of a delayed expression of chromosomal damage up to 40 population doublings after the exposure. A high number of aberrant cells were only observed directly after exposure to 10.7 MeV/u O-ions, i.e. in the first cycle cells and decreased with subsequent cell divisions. The reason for these differences in the radiation-induced chromosomal instability between clonal isolates and mass culture has not been clarified. Recent studies indicated that genomic instability occurs at a high frequency in the progeny of cells irradiated with both sparsely and densely ionizing radiation. Such genomic instability is thought likely to increase the risk of carcinogenesis, but more data are required for a well understanding of the health risks resulting from radiation-induced delayed instability. (M.N.)

  4. Chromosome segregation in plant meiosis

    Directory of Open Access Journals (Sweden)

    Linda eZamariola

    2014-06-01

    Full Text Available Faithful chromosome segregation in meiosis is essential for ploidy stability over sexual life cycles. In plants, defective chromosome segregation caused by gene mutations or other factors leads to the formation of unbalanced or unreduced gametes creating aneuploid or polyploid progeny, respectively. Accurate segregation requires the coordinated execution of conserved processes occurring throughout the two meiotic cell divisions. Synapsis and recombination ensure the establishment of chiasmata that hold homologous chromosomes together allowing their correct segregation in the first meiotic division, which is also tightly regulated by cell-cycle dependent release of cohesin and monopolar attachment of sister kinetochores to microtubules. In meiosis II, bi-orientation of sister kinetochores and proper spindle orientation correctly segregate chromosomes in four haploid cells. Checkpoint mechanisms acting at kinetochores control the accuracy of kinetochore-microtubule attachment, thus ensuring the completion of segregation. Here we review the current knowledge on the processes taking place during chromosome segregation in plant meiosis, focusing on the characterization of the molecular factors involved.

  5. Radiation exposure and chromosome damage

    International Nuclear Information System (INIS)

    Lloyd, D.

    1979-01-01

    Chromosome damage is discussed as a means of biologically measuring radiation exposure to the body. Human lymphocytes are commonly used for this test since the extent of chromosome damage induced is related to the exposure dose. Several hundred lymphocytes are analysed in metaphase for chromosome damage, particularly dicentrics. The dose estimate is made by comparing the observed dicentric yield against calibration curves, previously produced by in vitro irradiation of blood samples to known doses of different types of radiation. This test is useful when there is doubt that the film badge has recorded a reasonable whole body dose and also when there is an absence of any physical data. A case of deliberate exposure is described where the chromosome damage test estimated an exposure of 152 rads. The life span of cell aberrations is also considered. Regular checks on radiotherapy patients and some accidental overdose cases have shown little reduction in the aberration levels over the first six weeks after which the damage disappears slowly with a half-life of about three years. In conclusion, chromosome studies have been shown to be of value in resolving practical problems in radiological protection. (U.K.)

  6. Chromosomal rearrangement interferes with meiotic X chromosome inactivation

    Czech Academy of Sciences Publication Activity Database

    Homolka, David; Ivánek, Robert; Čapková, Jana; Jansa, Petr; Forejt, Jiří

    2007-01-01

    Roč. 17, č. 10 (2007), s. 1431-1437 ISSN 1088-9051 R&D Projects: GA MŠk(CZ) 1M0520; GA ČR GA301/06/1334; GA ČR GA301/07/1383 Grant - others:Howard Hughes Medical Institute(US) HHMI 55000306 Institutional research plan: CEZ:AV0Z50520514 Keywords : chromosomal translocations * meiotic X chromosome inactivation * spermatogenesis Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 11.224, year: 2007

  7. Wife Beating in South Africa: An Imbalance Theory of Resources and Power

    Science.gov (United States)

    Choi, Susanne Y. P.; Ting, Kwok-Fai

    2008-01-01

    This article develops an imbalance theory to explain physical violence against women in intimate relationships in South Africa. The theory proposes four typologies: dependence, compensation, submission, and transgression, through which imbalances in resource contribution and power distribution between spouses are hypothesized to contribute to…

  8. Effect of magnetic field on charge imbalance relaxation of non-equilibrium superconductivity

    International Nuclear Information System (INIS)

    Tsuboi, Kazuki; Yagi, Ryuta

    2010-01-01

    We have studied relaxation of charge imbalance of non-equilibrium superconductivity in magnetic field. We found that excess current due to charge imbalance showed striking dependence on magnitude of magnetic field and its orientation. We discussed origin of the relaxation.

  9. Excitatory/inhibitory imbalance in autism spectrum disorders: Implications for interventions and therapeutics.

    Science.gov (United States)

    Uzunova, Genoveva; Pallanti, Stefano; Hollander, Eric

    2016-04-01

    Imbalance between excitation and inhibition and increased excitatory-inhibitory (E-I) ratio is a common mechanism in autism spectrum disorders (ASD) that is responsible for the learning and memory, cognitive, sensory, motor deficits, and seizures occurring in these disorders. ASD are very heterogeneous and better understanding of E-I imbalance in brain will lead to better diagnosis and treatments. We perform a critical literature review of the causes and presentations of E-I imbalance in ASD. E-I imbalance in ASD is due primarily to abnormal glutamatergic and GABAergic neurotransmission in key brain regions such as neocortex, hippocampus, amygdala, and cerebellum. Other causes are due to dysfunction of neuropeptides (oxytocin), synaptic proteins (neuroligins), and immune system molecules (cytokines). At the neuropathological level E-I imbalance in ASD is presented as a "minicolumnopathy". E-I imbalance alters the manner by which the brain processes information and regulates behaviour. New developments for investigating E-I imbalance such as optogenetics and transcranial magnetic stimulation (TMS) are presented. Non-invasive brain stimulation methods such as TMS for treatment of the core symptoms of ASD are discussed. Understanding E-I imbalance has important implications for developing better pharmacological and behavioural treatments for ASD, including TMS, new drugs, biomarkers and patient stratification.

  10. A comparison of imbalance settlement designs and results of Germany and the Netherlands

    NARCIS (Netherlands)

    Van der Veen, R.A.C.; Abbasy, A.; Hakvoort, R.A.

    2010-01-01

    Imbalance settlement is a vital part of the balancing market, i.e. the institutional arrangement that establishes market-based balance management in liberalized electricity markets. We investigate the impact of the imbalance settlement design on the behaviour of Balance Responsible Parties and

  11. The effect of impurity scattering on the thermally induced charge imbalance in a clean superconductor

    International Nuclear Information System (INIS)

    Nielsen, J.B.; Smith, H.; Ono, Y.A.; Pethick, C.J.

    1980-01-01

    The charge imbalance generated in a current-carrying clean superconductor by a temperature gradient is calculated, assuming that non-magnetic or magnetic impurities are the only source of scattering. The charge imbalance is obtained from exact solutions of the quasiparticle Boltzmann equation, valid at any temperature and superfluid velocity. (author)

  12. Chromosomal rearrangements in Tourette syndrome

    DEFF Research Database (Denmark)

    Bertelsen, Birgitte; Debes, Nanette Mol; Hjermind, Lena E

    2013-01-01

    , and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has...... been an efficient tool for the cloning of disease genes in several Mendelian disorders and in a number of complex disorders. Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS...

  13. Chromosomal instability determines taxane response

    DEFF Research Database (Denmark)

    Swanton, C.; Nicke, B.; Schuett, M.

    2009-01-01

    chromosomal instability (CIN). Silencing 22/50 of these genes, many of which are involved in DNA repair, caused cancer cell death, suggesting that these genes are involved in the survival of aneuploid cells. Overexpression of these "CIN-survival'' genes is associated with poor outcome in estrogen receptor......-positive breast cancer and occurs frequently in basal-like and Her2-positive cases. In diploid cells, but not in chromosomally unstable cells, paclitaxel causes repression of CIN-survival genes, followed by cell death. In the OV01 ovarian cancer clinical trial, a high level of CIN was associated with taxane...

  14. Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

    Directory of Open Access Journals (Sweden)

    Rongen Michel A

    2009-07-01

    Full Text Available Abstract Background Complex chromosomal rearrangements (CCR are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. High resolution genotyping is necessary in order to identify cryptic imbalances, for instance near the multiple breakpoints, to explain the abnormal phenotype in these patients. We applied several molecular techniques to elucidate the complexity of the CCRs of two adult patients with abnormal phenotypes. Results Multicolour fluorescence in situ hybridization (M-FISH showed that in patient 1 the chromosomes 1, 10, 15 and 18 were involved in the rearrangement whereas for patient 2 the chromosomes 5, 9, 11 and 13 were involved. A 250 k Nsp1 SNP-array analysis uncovered a deletion in chromosome region 10p13 for patient 1, harbouring 17 genes, while patient 2 showed no pathogenic gains or losses. Additional FISH analysis with locus specific BAC-probes was performed, leading to the identification of cryptic interstitial structural rearrangements in both patients. Conclusion Application of M-FISH and SNP-array analysis to apparently balanced CCRs is useful to delineate the complex chromosomal rearrangement in detail. However, it does not always identify cryptic imbalances as an explanation for the abnormal phenotype in patients with a CCR.

  15. Effects of a chemical imbalance causal explanation on individuals' perceptions of their depressive symptoms.

    Science.gov (United States)

    Kemp, Joshua J; Lickel, James J; Deacon, Brett J

    2014-05-01

    Although the chemical imbalance theory is the dominant causal explanation of depression in the United States, little is known about the effects of this explanation on depressed individuals. This experiment examined the impact of chemical imbalance test feedback on perceptions of stigma, prognosis, negative mood regulation expectancies, and treatment credibility and expectancy. Participants endorsing a past or current depressive episode received results of a bogus but credible biological test demonstrating their depressive symptoms to be caused, or not caused, by a chemical imbalance in the brain. Results showed that chemical imbalance test feedback failed to reduce self-blame, elicited worse prognostic pessimism and negative mood regulation expectancies, and led participants to view pharmacotherapy as more credible and effective than psychotherapy. The present findings add to a growing literature highlighting the unhelpful and potentially iatrogenic effects of attributing depressive symptoms to a chemical imbalance. Clinical and societal implications of these findings are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Diurnal Variations of the Flux Imbalance Over Homogeneous and Heterogeneous Landscapes

    Science.gov (United States)

    Zhou, Yanzhao; Li, Dan; Liu, Heping; Li, Xin

    2018-05-01

    It is well known that the sum of the turbulent sensible and latent heat fluxes as measured by the eddy-covariance method is systematically lower than the available energy (i.e., the net radiation minus the ground heat flux). We examine the separate and joint effects of diurnal and spatial variations of surface temperature on this flux imbalance in a dry convective boundary layer using the Weather Research and Forecasting model. Results show that, over homogeneous surfaces, the flux due to turbulent-organized structures is responsible for the imbalance, whereas over heterogeneous surfaces, the flux due to mesoscale or secondary circulations is the main contributor to the imbalance. Over homogeneous surfaces, the flux imbalance in free convective conditions exhibits a clear diurnal cycle, showing that the flux-imbalance magnitude slowly decreases during the morning period and rapidly increases during the afternoon period. However, in shear convective conditions, the flux-imbalance magnitude is much smaller, but slightly increases with time. The flux imbalance over heterogeneous surfaces exhibits a diurnal cycle under both free and shear convective conditions, which is similar to that over homogeneous surfaces in free convective conditions, and is also consistent with the general trend in the global observations. The rapid increase in the flux-imbalance magnitude during the afternoon period is mainly caused by the afternoon decay of the turbulent kinetic energy (TKE). Interestingly, over heterogeneous surfaces, the flux imbalance is linearly related to the TKE and the difference between the potential temperature and surface temperature, ΔT; the larger the TKE and ΔT values, the smaller the flux-imbalance magnitude.

  17. De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

    Directory of Open Access Journals (Sweden)

    Quimsiyeh Mazin

    2008-12-01

    Full Text Available Abstract Background In routine Assisted Reproductive Technology (ART men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program. Also the benefits of preimplantation or prenatal genetic diagnosis practice need to be explained to the couple. Methods From a routine ICSI attempt, using ejaculated sperm from male with severe oligozoospermia and having normal karyotype, a 30 years old pregnant woman was referred to prenatal diagnosis in the 17th week for bichorionic biamniotic twin gestation. Amniocentesis was performed because of the detection of an increased foetal nuchal translucency for one of the fetus by the sonographic examination during the 12th week of gestation (WG. Chromosome and DNA studies of the fetus were realized on cultured amniocytes Results Conventional, molecular cytogenetic and microarray CGH experiments allowed us to conclude that the fetus had a de novo pericentromeric inversion associated with a duplication of the 9p22.1-p24 chromosomal region, 46,XY,invdup(9(p22.1p24 [arrCGH 9p22.1p24 (RP11-130C19 → RP11-87O1x3]. As containing the critical 9p22 region, our case is in coincidence with the general phenotype features of the partial trisomy 9p syndrome with major growth retardation, microcephaly and microretrognathia. Conclusion This de novo complex chromosome rearrangement illustrates the possible risk of chromosome or gene defects in ICSI program and the contribution of array-CGH for mapping rapidly de novo chromosomal imbalance.

  18. Genetics Home Reference: ring chromosome 20 syndrome

    Science.gov (United States)

    ... drugs. Prolonged seizure episodes known as non-convulsive status epilepticus also appear to be characteristic of ring chromosome ... K, Takahashi Y. Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. Brain. 1997 Jun;120 ( ...

  19. Chromosomal disorders and male infertility

    Institute of Scientific and Technical Information of China (English)

    Gary L Harton; Helen G Tempest

    2012-01-01

    infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family.Despite this,the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.Nevertheless,more and more genetic factors associated with infertility are being identified.This review will focus on our current understanding of the chromosomal basis of male infertility specifically:chromosomal aneuploidy,structural and numerical karyotype abnormalities and Y chromosomal microdeletions.Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans.Aneuploidy is predominantly maternal in origin,but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts.Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm.Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed,as well as the application of preimplantation genetic diagnosis (PGD) in such cases.Clinical recommendations where possible will be made,as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

  20. Chromosomal Abnormalities Associated With Omphalocele

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with umbilical cord cysts, complexity of associated anomalies, and the contents of omphalocele. There is considerable evidence that genetics contributes to the etiology of omphalocele. This article provides an overview of chromosomal abnormalities associated with omphalocele and a comprehensive review of associated full aneuploidy such as trisomy 18, trisomy 13, triploidy, trisomy 21, 45,X, 47,XXY, and 47,XXX, partial aneuploidy such as dup(3q, dup(11p, inv(11, dup(1q, del(1q, dup(4q, dup(5p, dup(6q, del(9p, dup(15q, dup(17q, Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD such as UPD 11 and UPD 14. Omphalocele is a prominent marker for chromosomal abnormalities. Perinatal identification of omphalocele should alert chromosomal abnormalities and familial unbalanced translocations, and prompt thorough cytogenetic investigations and genetic counseling.

  1. CHROMOSOMAL MULTIPLICITY IN BURKHOLDERIA CEPACIA

    Science.gov (United States)

    We have used CHEF gel electrophoresis to screen preparations of large DNA from different Burkholderia cepacia isolates for the presence of DNA species corresponding to the linearized forms of the three chromosomes of 3.4,2.5, and 0.9 Mb identified in B. cepacia strain 17616. DNA ...

  2. The man-made creators of the imbalance of water in Nature

    Science.gov (United States)

    Shlafman, L. M.; Kontar, V. A.

    2013-12-01

    At 2011 we have described the imbalance of water in Nature as the system [1]. At 2012 we have described water and carbon and the glaciers [2], [3] as creators of the imbalance of Nature. Now we are describing some man-made creators of the imbalance of Nature. The photosynthesis is a powerful creator of the imbalance of Nature. The photosynthesis significantly increases the complexity of the structures and reduces the entropy. Earth's hydrosphere contains water less than it was flowed via photosynthesis. This is an example of the imbalance of involving when the return of water has delayed because water is involved into the processes of life and other processes. People widely use photosynthesis and create not only an additional man-made imbalance of water in Nature, but also the man-made changing the albedo, and a lot of other important parameters of the planet of Earth. All of these processes are significantly imbalanced. The fossil hydrocarbons have accumulated during millions of years, but now are burned. This is an example of the imbalance delay by time. The man-made burning of the hydrocarbons is creating the imbalances of impact or explosive type, because of the burning processes is in millions of times faster than the accumulation processes. Please pay attention to the imbalance of redeployment by places. For example, oil and gas are extracted in one places, and burned in others. During combustion is standing out not only water, but energy, and other components. The temperature in the centers of big cities is always higher and there is dominating the rising air. It pollutes the environment, changes circulations, create greenhouse effect, etc. Other examples of the imbalance of relocation are shown in the production and consumption of food. The irrigation systems transfer water from one place to another. This transfer of water creates a lot of imbalances in change climate, ecosystems, etc in places where water was took and where the water was brought. Usually

  3. Pension system in Romania. Long term imbalances and inconsistent policies

    Directory of Open Access Journals (Sweden)

    Ph. D. Associate Professor Razvan Papuc

    2012-05-01

    Full Text Available Public policies on retirement, both in Romania and in other EU countries, have been and still are conditioned by numerous short-term budgetary constaints and by long term major sustainability problems. Alongside objective, demographic developments known in all European countries , support systems for the elderly are facing numerous constraints, both due to government policies marked by fiscal indiscipline and lack of consistency of decisions and, hence, credibility phenomena caused by the phenomenon "the captive politician of a redistributive policy model". Modeling support institutions for pensioners by political actors was most of the times the expression of elections marked by Weberian instrumental rationality and not by wertrationalitat, using the axiom- guide for the behaviour of decision markers to "meet social interests in order to come to power" and not by the concern for a more long term efficient trans-redistributive approach. This paper aims to pursue the most important imbalances that chartacterize the public pension system in Romania, expression of decisions determined by aggregating in group individual preferences and noy by both rational and ethical analysis without redistribution centres.

  4. Monocular Perceptual Deprivation from Interocular Suppression Temporarily Imbalances Ocular Dominance.

    Science.gov (United States)

    Kim, Hyun-Woong; Kim, Chai-Youn; Blake, Randolph

    2017-03-20

    Early visual experience sculpts neural mechanisms that regulate the balance of influence exerted by the two eyes on cortical mechanisms underlying binocular vision [1, 2], and experience's impact on this neural balancing act continues into adulthood [3-5]. One recently described, compelling example of adult neural plasticity is the effect of patching one eye for a relatively short period of time: contrary to intuition, monocular visual deprivation actually improves the deprived eye's competitive advantage during a subsequent period of binocular rivalry [6-8], the robust form of visual competition prompted by dissimilar stimulation of the two eyes [9, 10]. Neural concomitants of this improvement in monocular dominance are reflected in measurements of brain responsiveness following eye patching [11, 12]. Here we report that patching an eye is unnecessary for producing this paradoxical deprivation effect: interocular suppression of an ordinarily visible stimulus being viewed by one eye is sufficient to produce shifts in subsequent predominance of that eye to an extent comparable to that produced by patching the eye. Moreover, this imbalance in eye dominance can also be induced by prior, extended viewing of two monocular images differing only in contrast. Regardless of how shifts in eye dominance are induced, the effect decays once the two eyes view stimuli equal in strength. These novel findings implicate the operation of interocular neural gain control that dynamically adjusts the relative balance of activity between the two eyes [13, 14]. Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. A large proportion of asymptomatic Plasmodium infections with low and sub-microscopic parasite densities in the low transmission setting of Temotu Province, Solomon Islands: challenges for malaria diagnostics in an elimination setting

    Directory of Open Access Journals (Sweden)

    Harris Ivor

    2010-09-01

    Full Text Available Abstract Background Many countries are scaling up malaria interventions towards elimination. This transition changes demands on malaria diagnostics from diagnosing ill patients to detecting parasites in all carriers including asymptomatic infections and infections with low parasite densities. Detection methods suitable to local malaria epidemiology must be selected prior to transitioning a malaria control programme to elimination. A baseline malaria survey conducted in Temotu Province, Solomon Islands in late 2008, as the first step in a provincial malaria elimination programme, provided malaria epidemiology data and an opportunity to assess how well different diagnostic methods performed in this setting. Methods During the survey, 9,491 blood samples were collected and examined by microscopy for Plasmodium species and density, with a subset also examined by polymerase chain reaction (PCR and rapid diagnostic tests (RDTs. The performances of these diagnostic methods were compared. Results A total of 256 samples were positive by microscopy, giving a point prevalence of 2.7%. The species distribution was 17.5% Plasmodium falciparum and 82.4% Plasmodium vivax. In this low transmission setting, only 17.8% of the P. falciparum and 2.9% of P. vivax infected subjects were febrile (≥38°C at the time of the survey. A significant proportion of infections detected by microscopy, 40% and 65.6% for P. falciparum and P. vivax respectively, had parasite density below 100/μL. There was an age correlation for the proportion of parasite density below 100/μL for P. vivax infections, but not for P. falciparum infections. PCR detected substantially more infections than microscopy (point prevalence of 8.71%, indicating a large number of subjects had sub-microscopic parasitemia. The concordance between PCR and microscopy in detecting single species was greater for P. vivax (135/162 compared to P. falciparum (36/118. The malaria RDT detected the 12 microscopy and

  6. A field trial of a PCR-based Mansonella ozzardi diagnosis assay detects high-levels of submicroscopic M. ozzardi infections in both venous blood samples and FTA card dried blood spots.

    Science.gov (United States)

    Medeiros, Jansen Fernandes; Almeida, Tatiana Amaral Pires; Silva, Lucyane Bastos Tavares; Rubio, Jose Miguel; Crainey, James Lee; Pessoa, Felipe Arley Costa; Luz, Sergio Luiz Bessa

    2015-05-20

    Mansonella ozzardi is a poorly understood human filarial parasite with a broad distribution throughout Latin America. Most of what is known about its parasitism has come from epidemiological studies that have estimated parasite incidence using light microscopy. Light microscopy can, however, miss lighter, submicroscopic, infections. In this study we have compared M. ozzardi incidence estimates made using light microscopy, with estimates made using PCR. 214 DNA extracts made from Large Volume Venous Blood Samples (LVVBS) were taken from volunteers from two study sites in the Rio Solimões region: Codajás [n = 109] and Tefé [n = 105] and were subsequently assayed for M. ozzardi parasitism using a diagnostic PCR (Mo-dPCR). Peripheral finger-prick blood samples were taken from the same individuals and used for microscopic examination. Finger-prick blood, taken from individuals from Tefé, was also used for the creation of FTAcard dried blood spots (DBS) that were subsequently subjected to Mo-dPCR. Overall M. ozzardi incidence estimates made with LVVBS PCRs were 1.8 times higher than those made using microscopy (44.9% [96/214] compared with 24.3% [52/214]) and 1.5 times higher than the PCR estimates made from FTAcard DBS (48/105 versus 31/105). PCR-based detection of FTAcard DBS proved 1.3 times more sensitive at diagnosing infections from peripheral blood samples than light microscopy did: detecting 24/105 compared with 31/105. PCR of LVVBS reported the fewest number of false negatives, detecting: 44 of 52 (84.6%) individuals diagnosed by microscopy; 27 of 31 (87.1%) of those diagnosed positive from DBSs and 17 out of 18 (94.4%) of those diagnosed as positive by both alternative methodologies. In this study, Mo-dPCR of LVVBS was by far the most sensitive method of detecting M. ozzardi infections and detected submicroscopic infections. Mo-dPCR FTAcard DBS also provided a more sensitive test for M. ozzardi diagnosis than light microscopy based diagnosis did and

  7. Chromosomal Evolution in Lower Vertebrates: Sex Chromosomes in Neotropical Fishes

    Czech Academy of Sciences Publication Activity Database

    Cioffi, M. de B.; Yano, C. F.; Sember, Alexandr; Bertollo, L.A.C.

    2017-01-01

    Roč. 8, č. 10 (2017), č. článku 258. ISSN 2073-4425 R&D Projects: GA MŠk EF15_003/0000460 Institutional support: RVO:67985904 Keywords : alternative evolutionary models * simple and multiple sex chromosomes * independent and common origins Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 3.600, year: 2016

  8. Selective genomic copy number imbalances and probability of recurrence in early-stage breast cancer.

    Directory of Open Access Journals (Sweden)

    Patricia A Thompson

    Full Text Available A number of studies of copy number imbalances (CNIs in breast tumors support associations between individual CNIs and patient outcomes. However, no pattern or signature of CNIs has emerged for clinical use. We determined copy number (CN gains and losses using high-density molecular inversion probe (MIP arrays for 971 stage I/II breast tumors and applied a boosting strategy to fit hazards models for CN and recurrence, treating chromosomal segments in a dose-specific fashion (-1 [loss], 0 [no change] and +1 [gain]. The concordance index (C-Index was used to compare prognostic accuracy between a training (n = 728 and test (n = 243 set and across models. Twelve novel prognostic CNIs were identified: losses at 1p12, 12q13.13, 13q12.3, 22q11, and Xp21, and gains at 2p11.1, 3q13.12, 10p11.21, 10q23.1, 11p15, 14q13.2-q13.3, and 17q21.33. In addition, seven CNIs previously implicated as prognostic markers were selected: losses at 8p22 and 16p11.2 and gains at 10p13, 11q13.5, 12p13, 20q13, and Xq28. For all breast cancers combined, the final full model including 19 CNIs, clinical covariates, and tumor marker-approximated subtypes (estrogen receptor [ER], progesterone receptor, ERBB2 amplification, and Ki67 significantly outperformed a model containing only clinical covariates and tumor subtypes (C-Index(full model, train[test]  =  0.72[0.71] ± 0.02 vs. C-Index(clinical + subtype model, train[test]  =  0.62[0.62] ± 0.02; p<10(-6. In addition, the full model containing 19 CNIs significantly improved prognostication separately for ER-, HER2+, luminal B, and triple negative tumors over clinical variables alone. In summary, we show that a set of 19 CNIs discriminates risk of recurrence among early-stage breast tumors, independent of ER status. Further, our data suggest the presence of specific CNIs that promote and, in some cases, limit tumor spread.

  9. Microdissection and Chromosome Painting of the Alien Chromosome in an Addition Line of Wheat - Thinopyrum intermedium

    Science.gov (United States)

    Yin, Weibo; Zhang, Yingxin; Chen, Yuhong; Wang, Richard R.-C.; Zhang, Xiangqi; Han, Fangpu; Hu, Zanmin

    2013-01-01

    In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat - Thinopyrum intermedium addition line, and the chromosomes of the three different genomes of Th. Intermedium. The smallest alien chromosome of TAi-27 was microdissected and its DNA amplified by DOP-PCR was used as a probe to hybridize with metaphase chromosomes of TAi-27 and Th . intermedium . Results showed that hybridization signals were observed in all regions of a pair of the smallest alien chromosomes and the pericentromeric area of another pair of alien chromosomes in TAi-27, indicating that the probe from microdissected chromosome is species specific. In Th . intermedium , 14 chromosomes had wide and strong hybridization signals distributed mainly on the pericentromere area and 9 chromosomes with narrow and weak signals on the pericentromere area. The remaining chromosomes displayed a very weak or no signal. Sequential FISH/GISH on Th . intermedium chromosomes using the DNAs of microdissected chromosome, Pseudoroegneria spicata (St genome) and pDbH12 (a Js genome specific probe) as the probes indicated that the microdissected chromosome belonged to the St genome, three genomes (Js, J and St) in Th . intermedium could be distinguished, in which there is no hybridization signal on J genome that is similar to the genome of Th . bessarabicum . Our results showed that the smallest alien chromosomes may represent a truncated chromosome and the repetitive sequence distribution might be similar in different chromosomes within the St genome. However, the repetitive sequence distributions are different within the Js genome, within a single chromosome, and among different genomes in Th . intermedium . Our results suggested that chromosome painting could be feasible in some plants and useful in detecting chromosome variation and repetitive sequence distribution in different genomes of polyploidy plants, which is helpful for understanding the evolution of different

  10. Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

    Directory of Open Access Journals (Sweden)

    Tomaiuolo Anna

    2011-04-01

    Full Text Available Abstract Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis. Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms. Standard G-banding revealed four apparently balanced traslocations involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content.

  11. Dynamics of chromosome segregation in Escherichia coli

    DEFF Research Database (Denmark)

    Nielsen, Henrik Jørck

    2007-01-01

    Since the 1960’es the conformation and segregation of the chromosome in Escherichia coli has been a subject of interest for many scientists. However, after 40 years of research, we still know incredibly little about how the chromosome is organized inside the cell, how it manages to duplicate...... this incredibly big molecule and separate the two daughter chromosomes and how it makes sure that the daughter cells receives one copy each. The fully extended chromosome is two orders of magnitude larger than the cell in which it is contained. Hence the chromosome is heavily compacted in the cell...

  12. Tunnel injection and tunnel stimulation of superconductivity: the role of branch imbalance

    International Nuclear Information System (INIS)

    Gal'perin, Y.M.; Kozub, V.I.; Spivak, B.A.

    1983-01-01

    The tunnel injection and the tunnel extraction of quasiparticles in a superconductor are considered, taking into account the branch population imbalance. The stability of nonequilibrium states with branch imbalance is discussed. It is shown that if this imbalance is large enough, the nonequilibrim state becomes unstable with respect to spatially homogeneous fluctuations of the order parameter, the characteristic increment being of the order of that for the Cooper instability of the normal state at T>T/sub c/. As a result, states with oscillating order parameter can exist in a superconductor under injection or extraction. The relation of the results obtained to experimental results is discussed

  13. Similar nature of ionic imbalances in cardiovascular and renal disorders

    International Nuclear Information System (INIS)

    Shahid, S.M.; Jawed, M.; Akram, H.; Mahboob, T.

    2004-01-01

    Background: Several studies have reported improper ionic environment in cardiovascular and renal patients but how the diseases are associated on ionic basis is still not clear. Objective: The present study was aimed to investigate sodium and potassium concentrations and their transport abnormalities in cardiovascular and renal patients. Patients and Methods: Thirty patients of various cardiovascular and thirty patients of various renal disorders (53.33% males, 46.67% females) were selected. Erythrocytes were isolated from freshly drawn blood samples, washed and used for the estimation of sodium and potassium levels using flame photometer (Corning 410). Serum sodium and potassium were measured by flame photometer. RBC membranes were prepared for the estimation of Na/sup +/-K/sup +/-ATPase activity in terms of inorganic phosphate released/mg protein/hour. Results: Intra-erythrocyte and serum sodium and potassium concentrations and Na/sup +/-K/sup +/-ATPase activity were different in cardiovascular and renal patients from controls. Intra-erythrocyte sodium level was increased significantly (P<0.01) in cardiovascular patients and non-significantly in renal patients as compared to controls. Na/sup +/-K/sup +/-ATPase activity and serum sodium level were decreased significantly (P<0.01) in both the groups as compared to controls. Serum potassium was found to be decreased significantly (P<0.01) in cardiovascular patients whereas it was raised significantly (P<0.01) in renal patients as compared to control subjects. Conclusion: The results indicated similar nature of ionic and electrolyte imbalances in cardiovascular and renal disorders resulting from impaired Na/sup +/-K/sup +/-ATPase system. Further investigations in the same area, may be of help to establish an understanding of the progression of diseases, associated complications and the preventive steps that should-be taken to arrest the progression of these disorders. (author)

  14. Work ability, effort-reward imbalance and disability pension claims.

    Science.gov (United States)

    Wienert, J; Spanier, K; Radoschewski, F M; Bethge, M

    2017-12-30

    Effort-reward imbalance (ERI) and self-rated work ability are known independent correlates and predictors of intended disability pension claims. However, little research has focused on the interrelationship between the three and whether self-rated work ability mediates the relationship between ERI and intended disability pension claims. To investigate whether self-rated work ability mediates the association between ERI and intended disability pension claims. Baseline data from participants of the Third German Sociomedical Panel of Employees, a 5-year cohort study that investigates determinants of work ability, rehabilitation utilization and disability pensions in employees who have previously received sickness benefits, were analysed. We tested direct associations between ERI with intended disability pension claims (Model 1) and self-rated work ability (Model 2). Additionally, we tested whether work ability mediates the association between ERI and intended disability pension claims (Model 3). There were 2585 participants. Model 1 indicated a significant association between ERI and intended disability pension claims. Model 2 showed a significant association between ERI and self-rated work ability. The mediation in Model 3 revealed a significant indirect association between ERI and intended disability pension claims via self-rated work ability. There was no significant direct association between ERI and intended disability pension claims. Our results support the adverse health-related impact of ERI on self-rated work ability and intended disability pension claims. © The Author 2017. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  15. Diagnosis of nutrient imbalances with vector analysis in agroforestry systems.

    Science.gov (United States)

    Isaac, Marney E; Kimaro, Anthony A

    2011-01-01

    Agricultural intensification has had unintended environmental consequences, including increased nutrient leaching and surface runoff and other agrarian-derived pollutants. Improved diagnosis of on-farm nutrient dynamics will have the advantage of increasing yields and will diminish financial and environmental costs. To achieve this, a management support system that allows for site-specific rapid evaluation of nutrient production imbalances and subsequent management prescriptions is needed for agroecological design. Vector diagnosis, a bivariate model to depict changes in yield and nutritional response simultaneously in a single graph, facilitates identification of nutritional status such as growth dilution, deficiency, sufficiency, luxury uptake, and toxicity. Quantitative data from cocoa agroforestry systems and pigeonpea intercropping trials in Ghana and Tanzania, respectively, were re-evaluated with vector analysis. Relative to monoculture, biomass increase in cocoa ( L.) under shade (35-80%) was accompanied by a 17 to 25% decline in P concentration, the most limiting nutrient on this site. Similarly, increasing biomass with declining P concentrations was noted for pigeonpea [ (L). Millsp.] in response to soil moisture availability under intercropping. Although vector analysis depicted nutrient responses, the current vector model does not consider non-nutrient resource effects on growth, such as ameliorated light and soil moisture, which were particularly active in these systems. We revisit and develop vector analysis into a framework for diagnosing nutrient and non-nutrient interactions in agroforestry systems. Such a diagnostic technique advances management decision-making by increasing nutrient precision and reducing environmental issues associated with agrarian-derived soil contamination. American Society of Agronomy, Crop Science Society of America, and Soil Science Society of America.

  16. Imbalance between sympathetic and sensory innervation in peritoneal endometriosis.

    Science.gov (United States)

    Arnold, Julia; Barcena de Arellano, Maria L; Rüster, Carola; Vercellino, Giuseppe F; Chiantera, Vito; Schneider, Achim; Mechsner, Sylvia

    2012-01-01

    To investigate possible mechanisms of pain pathophysiology in patients with peritoneal endometriosis, a clinical study on sensory and sympathetic nerve fibre sprouting in endometriosis was performed. Peritoneal lesions (n=40) and healthy peritoneum (n=12) were immunostained and analysed with anti-protein gene product 9.5 (PGP 9.5), anti-substance P (SP) and anti-tyrosine hydroxylase (TH), specific markers for intact nerve fibres, sensory nerve fibres and sympathetic nerve fibres, respectively, to identify the ratio of sympathetic and sensory nerve fibres. In addition, immune cell infiltrates in peritoneal endometriotic lesions were analysed and the nerve growth factor (NGF) and interleukin (IL)-1β expression was correlate with the nerve fibre density. Peritoneal fluids from patients with endometriosis (n=40) and without endometriosis (n=20) were used for the in vitro neuronal growth assay. Cultured chicken dorsal root ganglia (DRG) and sympathetic ganglia were stained with anti-growth associated protein 43 (anti-GAP 43), anti-SP and anti-TH. We could detect an increased sensory and decreased sympathetic nerve fibres density in peritoneal lesions compared to healthy peritoneum. Peritoneal fluids of patients with endometriosis compared to patients without endometriosis induced an increased sprouting of sensory neurites from DRG and decreased neurite outgrowth from sympathetic ganglia. In conclusion, this study demonstrates an imbalance between sympathetic and sensory nerve fibres in peritoneal endometriosis, as well as an altered modulation of peritoneal fluids from patients with endometriosis on sympathetic and sensory innervation which might directly be involved in the maintenance of inflammation and pain. Copyright © 2011 Elsevier Inc. All rights reserved.

  17. Oxidative stress markers imbalance in late-life depression.

    Science.gov (United States)

    Diniz, Breno S; Mendes-Silva, Ana Paula; Silva, Lucelia Barroso; Bertola, Laiss; Vieira, Monica Costa; Ferreira, Jessica Diniz; Nicolau, Mariana; Bristot, Giovana; da Rosa, Eduarda Dias; Teixeira, Antonio L; Kapczinski, Flavio

    2018-03-20

    Oxidative stress has been implicated in the pathophysiology of mood disorders in young adults. However, there is few data to support its role in the elderly. The primary aim of this study was to evaluate whether subjects with late-life depression (LLD) presented with changes in oxidative stress response in comparison with the non-depressed control group. We then explored how oxidative stress markers associated with specific features of LLD, in particular cognitive performance and age of onset of major depressive disorder in these individuals. We included a convenience sample of 124 individuals, 77 with LLD and 47 non-depressed subjects (Controls). We measure the plasma levels of 6 oxidative stress markers: thiobarbituric acid reactive substances (TBARS), protein carbonil content (PCC), free 8-isoprostane, glutathione peroxidase (GPx) activity, glutathione reductase (GR) activity, and glutathione S-transferase (GST) activity. We found that participants with LLD had significantly higher free 8-isoprostane levels (p = 0.003) and lower glutathione peroxidase activity (p = 0.006) compared to controls. Free 8-isoprostane levels were also significantly correlated with worse scores in the initiation/perseverance (r = -0.24, p = 0.01), conceptualization (r = -0.22, p = 0.02) sub-scores, and the total scores (r = -0.21, p = 0.04) on the DRS. Our study provides robust evidence of the imbalance between oxidative stress damage, in particular lipid peroxidation, and anti-oxidative defenses as a mechanism related to LLD, and cognitive impairment in this population. Interventions aiming to reduce oxidative stress damage can have a potential neuroprotective effect for LLD subjects. Copyright © 2018 Elsevier Ltd. All rights reserved.

  18. Copper imbalances in ruminants and humans: unexpected common ground.

    Science.gov (United States)

    Suttle, Neville F

    2012-09-01

    Ruminants are more vulnerable to copper deficiency than humans because rumen sulfide generation lowers copper availability from forage, increasing the risk of conditions such as swayback in lambs. Molybdenum-rich pastures promote thiomolybdate (TM) synthesis and formation of unabsorbable Cu-TM complexes, turning risk to clinical reality (hypocuprosis). Selection pressures created ruminant species with tolerance of deficiency but vulnerability to copper toxicity in alien environments, such as specific pathogen-free units. By contrast, cases of copper imbalance in humans seemed confined to rare genetic aberrations of copper metabolism. Recent descriptions of human swayback and the exploratory use of TM for the treatment of Wilson's disease, tumor growth, inflammatory diseases, and Alzheimer's disease have created unexpected common ground. The incidence of pre-hemolytic copper poisoning in specific pathogen-free lambs was reduced by an infection with Mycobacterium avium that left them more responsive to treatment with TM but vulnerable to long-term copper depletion. Copper requirements in ruminants and humans may need an extra allowance for the "copper cost" of immunity to infection. Residual cuproenzyme inhibition in TM-treated lambs and anomalies in plasma copper composition that appeared to depend on liver copper status raise this question "can chelating capacity be harnessed without inducing copper-deficiency in ruminants or humans?" A model of equilibria between exogenous (TM) and endogenous chelators (e.g., albumin, metallothionein) is used to predict risk of exposure and hypocuprosis; although risk of natural exposure in humans is remote, vulnerability to TM-induced copper deficiency may be high. Biomarkers of TM impact are needed, and copper chaperones for inhibited cuproenzymes are prime candidates.

  19. Imbalance aware lithography hotspot detection: a deep learning approach

    Science.gov (United States)

    Yang, Haoyu; Luo, Luyang; Su, Jing; Lin, Chenxi; Yu, Bei

    2017-07-01

    With the advancement of very large scale integrated circuits (VLSI) technology nodes, lithographic hotspots become a serious problem that affects manufacture yield. Lithography hotspot detection at the post-OPC stage is imperative to check potential circuit failures when transferring designed patterns onto silicon wafers. Although conventional lithography hotspot detection methods, such as machine learning, have gained satisfactory performance, with the extreme scaling of transistor feature size and layout patterns growing in complexity, conventional methodologies may suffer from performance degradation. For example, manual or ad hoc feature extraction in a machine learning framework may lose important information when predicting potential errors in ultra-large-scale integrated circuit masks. We present a deep convolutional neural network (CNN) that targets representative feature learning in lithography hotspot detection. We carefully analyze the impact and effectiveness of different CNN hyperparameters, through which a hotspot-detection-oriented neural network model is established. Because hotspot patterns are always in the minority in VLSI mask design, the training dataset is highly imbalanced. In this situation, a neural network is no longer reliable, because a trained model with high classification accuracy may still suffer from a high number of false negative results (missing hotspots), which is fatal in hotspot detection problems. To address the imbalance problem, we further apply hotspot upsampling and random-mirror flipping before training the network. Experimental results show that our proposed neural network model achieves comparable or better performance on the ICCAD 2012 contest benchmark compared to state-of-the-art hotspot detectors based on deep or representative machine leaning.

  20. Power Imbalances, Food Insecurity, and Children's Rights in Canada.

    Science.gov (United States)

    Blay-Palmer, Alison

    2016-01-01

    Increasingly, food is provided through an industrial food system that separates people from the source of their food and results in high rates of food insecurity, particularly for the most vulnerable in society. A lack of food is a symptom of a lack of power in a system that privileges free market principles over social justice and the protection of human rights. In Canada, the high rates of food insecurity among Canadian children is a reflection of their lack of power and the disregard of their human rights, despite the adoption of the United Nations (UN) Convention on the Rights of the Child in 1991 and ratification of the International Covenant on Social, Economic and Cultural Rights in 1976, which established the right to food for all Canadians. Dueling tensions between human rights and market forces underpin this unacceptable state of affairs in Canada. Gaventa's "power cube" that describes different facets of power - including spaces, levels, and forms - is used to help understand the power imbalances that underlie this injustice. The analysis considers the impact of neoliberal free market principles on the realization of human rights, and the negative impacts this can have on health and well-being for the most vulnerable in society. Canadian case studies from both community organizations provide examples of how power can be shifted to achieve more inclusive, rights-based policy and action. Given increased global pressures toward more open trade markets and national austerity measures that hollow out social supports, Canada provides a cautionary tale for countries in the EU and the US, and for overall approaches to protect the most vulnerable in society.

  1. Carbon and nutrient use efficiencies optimally balance stoichiometric imbalances

    Science.gov (United States)

    Manzoni, Stefano; Čapek, Petr; Lindahl, Björn; Mooshammer, Maria; Richter, Andreas; Šantrůčková, Hana

    2016-04-01

    Decomposer organisms face large stoichiometric imbalances because their food is generally poor in nutrients compared to the decomposer cellular composition. The presence of excess carbon (C) requires adaptations to utilize nutrients effectively while disposing of or investing excess C. As food composition changes, these adaptations lead to variable C- and nutrient-use efficiencies (defined as the ratios of C and nutrients used for growth over the amounts consumed). For organisms to be ecologically competitive, these changes in efficiencies with resource stoichiometry have to balance advantages and disadvantages in an optimal way. We hypothesize that efficiencies are varied so that community growth rate is optimized along stoichiometric gradients of their resources. Building from previous theories, we predict that maximum growth is achieved when C and nutrients are co-limiting, so that the maximum C-use efficiency is reached, and nutrient release is minimized. This optimality principle is expected to be applicable across terrestrial-aquatic borders, to various elements, and at different trophic levels. While the growth rate maximization hypothesis has been evaluated for consumers and predators, in this contribution we test it for terrestrial and aquatic decomposers degrading resources across wide stoichiometry gradients. The optimality hypothesis predicts constant efficiencies at low substrate C:N and C:P, whereas above a stoichiometric threshold, C-use efficiency declines and nitrogen- and phosphorus-use efficiencies increase up to one. Thus, high resource C:N and C:P lead to low C-use efficiency, but effective retention of nitrogen and phosphorus. Predictions are broadly consistent with efficiency trends in decomposer communities across terrestrial and aquatic ecosystems.

  2. Frequencies of chromosome aberration on radiation workers

    International Nuclear Information System (INIS)

    Yanti Lusiyanti; Zubaidah Alatas

    2016-01-01

    Radiation exposure of the body can cause damage to the genetic material in cells (cytogenetic) in the form of changes in the structure or chromosomal aberrations in peripheral blood lymphocytes. Chromosomal aberrations can be unstable as dicentric and ring chromosomes, and is stable as translocation. Dicentric chromosome is the gold standard biomarker due to radiation exposure, and chromosome translocation is a biomarker for retrospective biodosimetry. The aim of this studi is to conduct examination of chromosomal aberrations in the radiation worker to determine the potential damage of cell that may arise due to occupational radiation exposure. The examination have been carried out on blood samples from 55 radiation workers in the range of 5-30 year of service. Chromosome aberration frequency measurement starts with blood sampling, culturing, harvesting, slide preparations, and lymphocyte chromosome staining with Giemsa and painting with Fluorescence In Situ Hybridization (FISH) technique. The results showed that chromosomal translocations are not found in blood samples radiation workers and dicentric chromosomes found only on 2 blood samples of radiation workers with a frequency of 0.001/cell. The frequency of chromosomal aberrations in the blood cells such workers within normal limits and this means that the workers have been implemented a radiation safety aspects very well. (author)

  3. Chromosomal instability induced by ionizing radiation

    International Nuclear Information System (INIS)

    Morgan, W.F.; Marder, B.A.; Day, J.P.

    1995-01-01

    There is accumulating evidence indicating genomic instability can manifest multiple generations after cellular exposure to DNA damaging agents. For instance, some cells surviving exposure to ionizing radiations show delayed reproductive cell death, delayed mutation and / or delayed chromosomal instability. Such instability, especially chromosome destabilization has been implicated in mutation, gene amplification, cellular transformation, and cell killing. To investigate chromosomal instability following DNA damage, we have used fluorescence in situ hybridization to detect chromosomal rearrangements in a human/hamster somatic hybrid cell line following exposure to ionizing radiation. Delayed chromosomal instability was detected when multiple populations of uniquely arranged metaphases were observed in clonal isolates raised from single cells. The relationship between delayed chromosomal destabilization and other endpoints of genomic instability, namely; delayed mutation and gene amplification will be discussed, as will the potential cytogenetic and molecular mechanisms contributing to delayed chromosomal instability

  4. Delayed chromosomal instability induced by DNA damage

    International Nuclear Information System (INIS)

    Morgan, W.F.; Marder, B.A.; Day, J.P.

    1994-01-01

    Cellular exposure to DNA damaging agents rapidly results in a dose dependent increase in chromosomal breakage and gross structural chromosomal rearrangements. Over recent years, evidence has been accumulating indicating genomic instability can manifest multiple generations after cellular exposure to physical and chemical DNA damaging agents. Genomic instability manifests in the progeny of surviving cells, and has been implicated in mutation, gene application, cellular transformation, and cell killing. To investigate chromosome instability following DNA damage, we have used fluorescence in situ hybridization to detect chromosomal rearrangements in a human/hamster somatic hybrid cell line following exposure to ionizing radiation. Delayed chromosomal instability was detected when multiple populations of uniquely arranged metaphases were observed in clonal isolates raised from single cells surviving X-irradiation many generations after exposure. At higher radiation doses, chromosomal instability was observed in a relatively high frequency of surviving clones and, in general, those clones showed delayed chromosome instability also showed reduced survival as measured by colony forming ability

  5. Genome Organization Drives Chromosome Fragility.

    Science.gov (United States)

    Canela, Andres; Maman, Yaakov; Jung, Seolkyoung; Wong, Nancy; Callen, Elsa; Day, Amanda; Kieffer-Kwon, Kyong-Rim; Pekowska, Aleksandra; Zhang, Hongliang; Rao, Suhas S P; Huang, Su-Chen; Mckinnon, Peter J; Aplan, Peter D; Pommier, Yves; Aiden, Erez Lieberman; Casellas, Rafael; Nussenzweig, André

    2017-07-27

    In this study, we show that evolutionarily conserved chromosome loop anchors bound by CCCTC-binding factor (CTCF) and cohesin are vulnerable to DNA double strand breaks (DSBs) mediated by topoisomerase 2B (TOP2B). Polymorphisms in the genome that redistribute CTCF/cohesin occupancy rewire DNA cleavage sites to novel loop anchors. While transcription- and replication-coupled genomic rearrangements have been well documented, we demonstrate that DSBs formed at loop anchors are largely transcription-, replication-, and cell-type-independent. DSBs are continuously formed throughout interphase, are enriched on both sides of strong topological domain borders, and frequently occur at breakpoint clusters commonly translocated in cancer. Thus, loop anchors serve as fragile sites that generate DSBs and chromosomal rearrangements. VIDEO ABSTRACT. Published by Elsevier Inc.

  6. Chromosomes aberations and enviromental factors

    Directory of Open Access Journals (Sweden)

    Marković Srđan Z.

    2017-01-01

    Full Text Available Explanation the topic: Changes in genetic material can lead to aberrant cell in the direction of disorders of cellular regulation, malignant transformation, cell death, or if the adjustment was made at the level of the reproductive cells, to genetic changes in some of the consequent off spring. The topic position in scientific/professional public: Breaking of chromosomes can occur spontaneously or can be induced. Chromatid/chromosome breakings can be induced by different environmental factors: chemicals, biological clastogenic agents, accidentally or intentionally. Conclusions: The authors suggest: - making conditions for strong respect of environmental regulations; - to use higher plants for the early detection of environmental mutagens; - create and orderly update National radionuclide database.

  7. Microdissection and chromosome painting of the alien chromosome in an addition line of wheat-Thinopyrum intermedium

    Science.gov (United States)

    The chromosome painting is an efficient tool for chromosome research. However, plant chromosome painting is relatively underdeveloped. In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat-Thinopyrum intermedium addition line, and chromosomes of...

  8. Radiation induced chromosomal instability in lymphocytes of cancer patients

    International Nuclear Information System (INIS)

    Sudo, H.; Sagara, M.; Ban, S.; Noda, S.; Iwakawa, M.; Harada, Y.; Imai, T.; Cologne, J.B.

    2003-01-01

    Full text: Cytokinesis-blocked micronucleus (CBMN) assay has been extensively used to evaluate the radiation sensitivity of human individuals. Using the CBMN assay, Scott et al (1998, 1999) demonstrated that a fraction of radiosensitive individuals in breast cancer case population was larger than in normal individual population. However, Vral et al were very skeptical about the Scott et al's findings (2002). Under the approval from the ethical committee of NIRS, peripheral blood was obtained from 46 normal healthy females, 131 breast cancer patients, 32 cervical cancer patients and 7 female head and neck cancer patients. Radiosensitivity of T-lymphocytes was assessed by using a CBMN assay. The frequencies of MN per binucleated cell in healthy donors were 0.031(±0.010) and 0.151(±0.066) for cells treated before and after X-ray-irradiation (2Gy), respectively. Spontaneous MN frequencies in cancer patients were significantly higher than healthy donors (p < 0.001). Radiation sensitivities of breast- and head and neck-cancer patients were significantly higher than normal individuals (p < 0.001). Cervical cancer patients were more resistant to irradiation than healthy donors, though the number of cases for statistical analysis was small. (p < 0.001). We are considering that the HPV infection affected the radiosensitivity of cervical cancer cases. Because it is widely believed that one key mechanism which leads to spontaneous micronucleus formation involves an imbalance of chromosomal segregation and a chromosomal instability in patients' lymphocytes might be greater than that in normal individuals' lymphocytes. Recently, Kuschel et al (2002) demonstrated that ratios in two SNPs on XRCC3 were significantly different between cancer patients and healthy females. Then, we can suppose that the radiation-related genes with low penetrance may be involved in tumorigenesis of mammary- and head and neck-cells, and also, in patients' radiation susceptibility

  9. GSK-3 inhibitors induce chromosome instability

    Directory of Open Access Journals (Sweden)

    Staples Oliver D

    2007-08-01

    Full Text Available Abstract Background Several mechanisms operate during mitosis to ensure accurate chromosome segregation. However, during tumour evolution these mechanisms go awry resulting in chromosome instability. While several lines of evidence suggest that mutations in adenomatous polyposis coli (APC may promote chromosome instability, at least in colon cancer, the underlying mechanisms remain unclear. Here, we turn our attention to GSK-3 – a protein kinase, which in concert with APC, targets β-catenin for proteolysis – and ask whether GSK-3 is required for accurate chromosome segregation. Results To probe the role of GSK-3 in mitosis, we inhibited GSK-3 kinase activity in cells using a panel of small molecule inhibitors, including SB-415286, AR-A014418, 1-Azakenpaullone and CHIR99021. Analysis of synchronised HeLa cells shows that GSK-3 inhibitors do not prevent G1/S progression or cell division. They do, however, significantly delay mitotic exit, largely because inhibitor-treated cells have difficulty aligning all their chromosomes. Although bipolar spindles form and the majority of chromosomes biorient, one or more chromosomes often remain mono-oriented near the spindle poles. Despite a prolonged mitotic delay, anaphase frequently initiates without the last chromosome aligning, resulting in chromosome non-disjunction. To rule out the possibility of "off-target" effects, we also used RNA interference to selectively repress GSK-3β. Cells deficient for GSK-3β exhibit a similar chromosome alignment defect, with chromosomes clustered near the spindle poles. GSK-3β repression also results in cells accumulating micronuclei, a hallmark of chromosome missegregation. Conclusion Thus, not only do our observations indicate a role for GSK-3 in accurate chromosome segregation, but they also raise the possibility that, if used as therapeutic agents, GSK-3 inhibitors may induce unwanted side effects by inducing chromosome instability.

  10. Chromosome aberration assays in Allium

    Energy Technology Data Exchange (ETDEWEB)

    Grant, W.F.

    1982-01-01

    The common onion (Allium cepa) is an excellent plant for the assay of chromosome aberrations after chemical treatment. Other species of Allium (A. cepa var. proliferum, A. carinatum, A. fistulosum and A. sativum) have also been used but to a much lesser extent. Protocols have been given for using root tips from either bulbs or seeds of Allium cepa to study the cytological end-points, such as chromosome breaks and exchanges, which follow the testing of chemicals in somatic cells. It is considered that both mitotic and meiotic end-points should be used to a greater extent in assaying the cytogenetic effects of a chemical. From a literature survey, 148 chemicals are tabulated that have been assayed in 164 Allium tests for their clastogenic effect. Of the 164 assays which have been carried out, 75 are reported as giving a positive reaction, 49 positive and with a dose response, 1 positive and temperature-related, 9 borderline positive, and 30 negative; 76% of the chemicals gave a definite positive response. It is proposed that the Allium test be included among those tests routinely used for assessing chromosomal damage induced by chemicals.

  11. Inter-chromosomal heterogeneity in the formation of radiation induced chromosomal aberrations

    International Nuclear Information System (INIS)

    Natarajan, A.T.; Vermeulen, S.; Boei, J.J.W.A.

    1997-01-01

    It is generally assumed that radiation induced chromosomal lesions are distributed randomly and repaired randomly among the genome. Recent studies using fluorescent in situ hybridization (FISH) and chromosome specific DNA libraries indicate that some chromosomes are more sensitive for radiation induced aberration formation than others. Chromosome No. 4 in human and chromosome No. 8 in Chinese hamster have been found to involve more in exchange aberrations than others, when calculated on the basis of their DNA content. Painting with arm specific chromosome libraries indicate that the frequencies of radiation induced intra-chromosome exchanges (i.e., between the arms of a chromosome, such as centric rings and inversions) are far in excess than one would expect on the basis of the frequencies of observed inter-chromosomal exchanges. The possible factors leading to the observed heterogeneity will be discussed

  12. Analysis and compensation of I/Q imbalance in amplify-and-forward cooperative systems

    KAUST Repository

    Qi, Jian; Aissa, Sonia; Alouini, Mohamed-Slim

    2012-01-01

    In this paper, dual-hop amplify-and-forward (AF) cooperative systems in the presence of in-phase and quadrature-phase (I/Q) imbalance, which refers to the mismatch between components in I and Q branches, are investigated. First, we analyze the performance of the considered AF cooperative protocol without compensation for I/Q imbalance as the benchmark. Furthermore, a compensation algorithm for I/Q imbalance is proposed, which makes use of the received signals at the destination, from the source and relay nodes, together with their conjugations to detect the transmitted signal. The performance of the AF cooperative system under study is evaluated in terms of average symbol error probability (SEP), which is derived considering transmission over Rayleigh fading channels. Numerical results are provided and show that the proposed compensation algorithm can efficiently mitigate the effect of I/Q imbalance. © 2012 IEEE.

  13. IQ imbalance tolerable parallel-channel DMT transmission for coherent optical OFDMA access network

    Science.gov (United States)

    Jung, Sang-Min; Mun, Kyoung-Hak; Jung, Sun-Young; Han, Sang-Kook

    2016-12-01

    Phase diversity of coherent optical communication provides spectrally efficient higher-order modulation for optical communications. However, in-phase/quadrature (IQ) imbalance in coherent optical communication degrades transmission performance by introducing unwanted signal distortions. In a coherent optical orthogonal frequency division multiple access (OFDMA) passive optical network (PON), IQ imbalance-induced signal distortions degrade transmission performance by interferences of mirror subcarriers, inter-symbol interference (ISI), and inter-channel interference (ICI). We propose parallel-channel discrete multitone (DMT) transmission to mitigate transceiver IQ imbalance-induced signal distortions in coherent orthogonal frequency division multiplexing (OFDM) transmissions. We experimentally demonstrate the effectiveness of parallel-channel DMT transmission compared with that of OFDM transmission in the presence of IQ imbalance.

  14. An Analysis of Economic Growth, Competitiveness and Macroeconomic Imbalances in the European Union

    Directory of Open Access Journals (Sweden)

    Gheorghe Hurduzeu

    2015-09-01

    Full Text Available Taking into consideration the determinants of the economic crisis and of the sovereign debt crisis, we aim to analyze the dynamics of the European economies and discuss changes related to macroeconomic imbalances, as highlighted by the recent crises as an important factor of the unfavorable dynamics registered during the last years. In this respect we considered both internal and external imbalances, as specified in the macroeconomic imbalance procedure that was implemented for the European Union member states since 2012, as a response to the crises that affected all open economies of the world. The purpose of this article is to provide a comprehensive analysis of economic imbalances in the European Union and to determine their influence on economic growth.

  15. An Assessment of Luminance Imbalance with ANVIS at an Army Helicopter Training Airfield

    National Research Council Canada - National Science Library

    McLean, William

    1997-01-01

    One of the casual factors listed in a 1996 mid-air collision between two Australian Army helicopters in formation was a speculation of possible luminance imbalance between the right and left channels...

  16. Codigestion of manure and industrial organic waste at centralized biogas plants: process imbalances and limitations

    DEFF Research Database (Denmark)

    Bangsø Nielsen, Henrik; Angelidaki, Irini

    2008-01-01

    The present study focuses on process imbalances in Danish centralized biogas plants treating manure in combination with industrial waste. Collection of process data from various full-scale plants along with a number of interviews showed that imbalances occur frequently. High concentrations...... of ammonia or long chain fatty acids is in most cases expected to be the cause of microbial inhibitions/imbalances while foaming in the prestorage tanks and digesters is the most important practical process problem at the plants. A correlation between increased residual biogas production (suboptimal process...... conditions) and high fractions of industrial waste in the feedstock was also observed. The process imbalances and suboptimal conditions are mainly allowed to occur due to 1) inadequate knowledge about the waste composition, 2) inadequate knowledge about the waste degradation characteristics, 3) inadequate...

  17. A single-to-differential low-noise amplifier with low differential output imbalance

    International Nuclear Information System (INIS)

    Duan Lian; Ma Chengyan; He Xiaofeng; Ye Tianchun; Huang Wei; Jin Yuhua

    2012-01-01

    This paper presents a single-ended input differential output low-noise amplifier intended for GPS applications. We propose a method to reduce the gain/amplitude and phase imbalance of a differential output exploiting the inductive coupling of a transformer or center-tapped differential inductor. A detailed analysis of the theory of imbalance reduction, as well as a discussion on the principle of choosing the dimensions of a transformer, are given. An LNA has been implemented using TSMC 0.18 μm technology with ESD-protected. Measurement on board shows a voltage gain of 24.6 dB at 1.575 GHz and a noise figure of 3.2 dB. The gain imbalance is below 0.2 dB and phase imbalance is less than 2 degrees. The LNA consumes 5.2 mA from a 1.8 V supply. (semiconductor integrated circuits)

  18. SYSTEMIC IMBALANCE OF ESSENTIAL METALS AND CARDIAC GENE EXPRESSION IN RATS FOLLOWING ACUTE PULMONARY ZINC EXPOSURE

    Science.gov (United States)

    We have recently demonstrated that PM containing water-soluble zinc may cause cardiac injury following pulmonary exposure. To investigate if pulmonary zinc exposure causes systemic metal imbalance and direct cardiac effects, we intratracheally (IT) instilled male Wistar Kyoto (WK...

  19. Pulsational stabilities of a star in thermal imbalance: comparison between the methods

    International Nuclear Information System (INIS)

    Vemury, S.K.

    1978-01-01

    The stability coefficients for quasi-adiabatic pulsations for a model in thermal imbalance are evaluated using the dynamical energy (DE) approach, the total (kinetic plus potential) energy (TE) approach, and the small amplitude (SA) approaches. From a comparison among the methods, it is found that there can exist two distinct stability coefficients under conditions of thermal imbalance as pointed out by Demaret. It is shown that both the TE approaches lead to one stability coefficient, while both the SA approaches lead to another coefficient. The coefficient obtained through the energy approaches is identified as the one which determines the stability of the velocity amplitudes.For a prenova model with a thin hydrogen-burning shell in thermal imbalance, several radial modes are found to be unstable both for radial displacements and for velocity amplitudes. However, a new kind of pulsational instability also appears, viz., while the radial displacements are unstable, the velocity amplitudes may be stabilized through the thermal imbalance terms

  20. Analysis and compensation of I/Q imbalance in amplify-and-forward cooperative systems

    KAUST Repository

    Qi, Jian

    2012-04-01

    In this paper, dual-hop amplify-and-forward (AF) cooperative systems in the presence of in-phase and quadrature-phase (I/Q) imbalance, which refers to the mismatch between components in I and Q branches, are investigated. First, we analyze the performance of the considered AF cooperative protocol without compensation for I/Q imbalance as the benchmark. Furthermore, a compensation algorithm for I/Q imbalance is proposed, which makes use of the received signals at the destination, from the source and relay nodes, together with their conjugations to detect the transmitted signal. The performance of the AF cooperative system under study is evaluated in terms of average symbol error probability (SEP), which is derived considering transmission over Rayleigh fading channels. Numerical results are provided and show that the proposed compensation algorithm can efficiently mitigate the effect of I/Q imbalance. © 2012 IEEE.

  1. Continuous Covariate Imbalance and Conditional Power for Clinical Trial Interim Analyses

    Science.gov (United States)

    Ciolino, Jody D.; Martin, Renee' H.; Zhao, Wenle; Jauch, Edward C.; Hill, Michael D.; Palesch, Yuko Y.

    2014-01-01

    Oftentimes valid statistical analyses for clinical trials involve adjustment for known influential covariates, regardless of imbalance observed in these covariates at baseline across treatment groups. Thus, it must be the case that valid interim analyses also properly adjust for these covariates. There are situations, however, in which covariate adjustment is not possible, not planned, or simply carries less merit as it makes inferences less generalizable and less intuitive. In this case, covariate imbalance between treatment groups can have a substantial effect on both interim and final primary outcome analyses. This paper illustrates the effect of influential continuous baseline covariate imbalance on unadjusted conditional power (CP), and thus, on trial decisions based on futility stopping bounds. The robustness of the relationship is illustrated for normal, skewed, and bimodal continuous baseline covariates that are related to a normally distributed primary outcome. Results suggest that unadjusted CP calculations in the presence of influential covariate imbalance require careful interpretation and evaluation. PMID:24607294

  2. Improved path imbalance measurement of a fiber-optic interferometer based on frequency scanning interferometry

    International Nuclear Information System (INIS)

    Hou, C B; Wang, J G; Yang, J; Li, H Y; Peng, F; Yuan, L B; Yuan, Y G

    2017-01-01

    We developed a path imbalance measuring system using a reference interferometer with alterable optical path difference (OPD), aiming to eliminate the uncertainties due to synthetic wavelength measurement and remove the requirement of a known and stable reference OPD in frequency scanning interferometry. The path imbalance can be solved by using the phase ratios between the two interferometers produced before and after altering the OPD in the reference interferometer. The results have shown that the measurement uncertainty and the path imbalance are linearly related and a combined relative uncertainty of 4.9  ×  10 −6 (1 σ ) in path imbalance measurement over a range from 0.5 m to 50 m is achieved. Besides, we analyzed the contributions to the uncertainty that limit the performance of the system, and we discussed how to obtain a better measurement uncertainty. (paper)

  3. Short-term overt hypothyroidism induces sympathovagal imbalance in thyroidectomized differentiated thyroid carcinoma patients

    NARCIS (Netherlands)

    Heemstra, Karen A.; Burggraaf, Jacobus; van der Klaauw, Agatha A.; Romijn, Johannes A.; Smit, Johannes W. A.; Corssmit, Eleonora P. M.

    2010-01-01

    Thyroid hormone impacts on the cardiovascular system. (Subclinical) hyperthyroidism results in sympathovagal imbalance due to decreased vagal tone. However, conflicting data have been reported on the effects of hypothyroidism on the activity of the autonomic nervous system (ANS). In hypothyroidism,

  4. Chromosomal divergence and evolutionary inferences in Rhodniini based on the chromosomal location of ribosomal genes

    Directory of Open Access Journals (Sweden)

    Sebastian Pita

    2013-05-01

    Full Text Available In this study, we used fluorescence in situ hybridisation to determine the chromosomal location of 45S rDNA clusters in 10 species of the tribe Rhodniini (Hemiptera: Reduviidae: Triatominae. The results showed striking inter and intraspecific variability, with the location of the rDNA clusters restricted to sex chromosomes with two patterns: either on one (X chromosome or both sex chromosomes (X and Y chromosomes. This variation occurs within a genus that has an unchanging diploid chromosome number (2n = 22, including 20 autosomes and 2 sex chromosomes and a similar chromosome size and genomic DNA content, reflecting a genome dynamic not revealed by these chromosome traits. The rDNA variation in closely related species and the intraspecific polymorphism in Rhodnius ecuadoriensis suggested that the chromosomal position of rDNA clusters might be a useful marker to identify recently diverged species or populations. We discuss the ancestral position of ribosomal genes in the tribe Rhodniini and the possible mechanisms involved in the variation of the rDNA clusters, including the loss of rDNA loci on the Y chromosome, transposition and ectopic pairing. The last two processes involve chromosomal exchanges between both sex chromosomes, in contrast to the widely accepted idea that the achiasmatic sex chromosomes of Heteroptera do not interchange sequences.

  5. A comparative study of imbalance reduction strategies for virtual power plant operation

    International Nuclear Information System (INIS)

    Zapata, J.; Vandewalle, J.; D'haeseleer, W.

    2014-01-01

    The penetration of a large amount of distributed generation (DG) technologies with intermittent output, such as photovoltaic installations and wind turbines, yields an important challenge to the electric grid. It is believed that aggregating them with controllable technologies such as cogeneration devices (CHP) can help to balance fluctuations of renewable energy. This work evaluates the ability of a virtual power plant (VPP) to reduce the imbalance error of renewable generators. The study is undertaken in a VPP that consists of several cogeneration devices and photovoltaic (PV) installations. The virtual power plant operator bids electricity into the day-ahead market using the forecast for solar irradiation and for the thermal demand. During the actual day, the imbalance due to deviations between the forecasted electricity delivered and the real output has to be settled in the balancing market. Thus, in order to compensate these errors and possible economic drawbacks, the operation of the CHP is adjusted periodically in a so called reschedule. Two different rescheduling strategies are compared against a ‘reference scenario’ in which the imbalance error is settled in the market. The first one (‘forced strategy’) aims at reducing the imbalance error every time step regardless of the imbalance prices. The second (‘economic strategy’) considers the imbalance prices and takes only action if it is economically appropriate and thus intends to reduce the total operational cost. The results show that the rescheduling technique is able to reduce the imbalance error (up to 90% depending on the season and the strategy). Additionally, the total operational cost is estimated. However, the nowadays imbalance prices only lead to a minor financial advantage that is unlikely to motivate real life operators to perform a rescheduling strategy. - Highlights: • The VPP is dispatched by a day-ahead optimization followed by a rescheduling. • A forced rescheduling strategy

  6. Drug-target interaction prediction via class imbalance-aware ensemble learning.

    Science.gov (United States)

    Ezzat, Ali; Wu, Min; Li, Xiao-Li; Kwoh, Chee-Keong

    2016-12-22

    Multiple computational methods for predicting drug-target interactions have been developed to facilitate the drug discovery process. These methods use available data on known drug-target interactions to train classifiers with the purpose of predicting new undiscovered interactions. However, a key challenge regarding this data that has not yet been addressed by these methods, namely class imbalance, is potentially degrading the prediction performance. Class imbalance can be divided into two sub-problems. Firstly, the number of known interacting drug-target pairs is much smaller than that of non-interacting drug-target pairs. This imbalance ratio between interacting and non-interacting drug-target pairs is referred to as the between-class imbalance. Between-class imbalance degrades prediction performance due to the bias in prediction results towards the majority class (i.e. the non-interacting pairs), leading to more prediction errors in the minority class (i.e. the interacting pairs). Secondly, there are multiple types of drug-target interactions in the data with some types having relatively fewer members (or are less represented) than others. This variation in representation of the different interaction types leads to another kind of imbalance referred to as the within-class imbalance. In within-class imbalance, prediction results are biased towards the better represented interaction types, leading to more prediction errors in the less represented interaction types. We propose an ensemble learning method that incorporates techniques to address the issues of between-class imbalance and within-class imbalance. Experiments show that the proposed method improves results over 4 state-of-the-art methods. In addition, we simulated cases for new drugs and targets to see how our method would perform in predicting their interactions. New drugs and targets are those for which no prior interactions are known. Our method displayed satisfactory prediction performance and was

  7. Comprehensive Investigation on Current Imbalance among Parallel Chips inside MW-Scale IGBT Power Modules

    DEFF Research Database (Denmark)

    Wu, Rui; Smirnova, Liudmila; Wang, Huai

    2015-01-01

    With the demands for increasing the power rating and improving reliability level of the high power IGBT modules, there are further needs of understanding how to achieve stable paralleling and identical current sharing between the chips. This paper investigates the stray parameters imbalance among...... parallel chips inside the 1.7 kV/1 kA high power IGBT modules at different frequencies by Ansys Q3D parastics extractor. The resulted current imbalance is further confirmed by experimental measurement....

  8. Effort–Reward Imbalance at Work and Incident Coronary Heart Disease

    Science.gov (United States)

    Siegrist, Johannes; Nyberg, Solja T.; Lunau, Thorsten; Fransson, Eleonor I.; Alfredsson, Lars; Bjorner, Jakob B.; Borritz, Marianne; Burr, Hermann; Erbel, Raimund; Fahlén, Göran; Goldberg, Marcel; Hamer, Mark; Heikkilä, Katriina; Jöckel, Karl-Heinz; Knutsson, Anders; Madsen, Ida E. H.; Nielsen, Martin L.; Nordin, Maria; Oksanen, Tuula; Pejtersen, Jan H.; Pentti, Jaana; Rugulies, Reiner; Salo, Paula; Schupp, Jürgen; Singh-Manoux, Archana; Steptoe, Andrew; Theorell, Töres; Vahtera, Jussi; Westerholm, Peter J. M.; Westerlund, Hugo; Virtanen, Marianna; Zins, Marie; Batty, G. David; Kivimäki, Mika

    2017-01-01

    Background: Epidemiologic evidence for work stress as a risk factor for coronary heart disease is mostly based on a single measure of stressful work known as job strain, a combination of high demands and low job control. We examined whether a complementary stress measure that assesses an imbalance between efforts spent at work and rewards received predicted coronary heart disease. Methods: This multicohort study (the “IPD-Work” consortium) was based on harmonized individual-level data from 11 European prospective cohort studies. Stressful work in 90,164 men and women without coronary heart disease at baseline was assessed by validated effort–reward imbalance and job strain questionnaires. We defined incident coronary heart disease as the first nonfatal myocardial infarction or coronary death. Study-specific estimates were pooled by random effects meta-analysis. Results: At baseline, 31.7% of study members reported effort–reward imbalance at work and 15.9% reported job strain. During a mean follow-up of 9.8 years, 1,078 coronary events were recorded. After adjustment for potential confounders, a hazard ratio of 1.16 (95% confidence interval, 1.00–1.35) was observed for effort–reward imbalance compared with no imbalance. The hazard ratio was 1.16 (1.01–1.34) for having either effort–reward imbalance or job strain and 1.41 (1.12–1.76) for having both these stressors compared to having neither effort–reward imbalance nor job strain. Conclusions: Individuals with effort–reward imbalance at work have an increased risk of coronary heart disease, and this appears to be independent of job strain experienced. These findings support expanding focus beyond just job strain in future research on work stress. PMID:28570388

  9. Examination of Potential Benefits of an Energy Imbalance Market in the Western Interconnection

    Energy Technology Data Exchange (ETDEWEB)

    Milligan, M.; Clark, K.; King, J.; Kirby, B.; Guo, T.; Liu, G.

    2013-03-01

    In the Western Interconnection, there is significant interest in improving approaches to wide-area coordinated operations of the bulk electric power system, in part because of the increasing penetration of variable generation. One proposed solution is an energy imbalance market. This study focused on that approach alone, with the goal of identifying the potential benefits of an energy imbalance market in the year 2020.

  10. Comprehensive preimplantation genetic screening and sperm deoxyribonucleic acid fragmentation from three males carrying balanced chromosome rearrangements.

    Science.gov (United States)

    Ramos, Laia; Daina, Gemma; Del Rey, Javier; Ribas-Maynou, Jordi; Fernández-Encinas, Alba; Martinez-Passarell, Olga; Boada, Montserrat; Benet, Jordi; Navarro, Joaquima

    2015-09-01

    To assess whether preimplantation genetic screening can successfully identify cytogenetically normal embryos in couples carrying balanced chromosome rearrangements in addition to increased sperm DNA fragmentation. Comprehensive preimplantation genetic screening was performed on three couples carrying chromosome rearrangements. Sperm DNA fragmentation was assessed for each patient. Academic center. One couple with the male partner carrying a chromosome 2 pericentric inversion and two couples with the male partners carrying a Robertsonian translocation (13:14 and 14:21, respectively). A single blastomere from each of the 18 cleavage-stage embryos obtained was analysed by metaphase comparative genomic hybridization. Single- and double-strand sperm DNA fragmentation was determined by the alkaline and neutral Comet assays. Single- and double-strand sperm DNA fragmentation values and incidence of chromosome imbalances in the blastomeres were analyzed. The obtained values of single-strand sperm DNA fragmentation were between 47% and 59%, and the double-strand sperm DNA fragmentation values were between 43% and 54%. No euploid embryos were observed in the couple showing the highest single-strand sperm DNA fragmentation. However, euploid embryos were observed in the other two couples: embryo transfer was performed, and pregnancy was achieved by the couple showing the lowest sperm DNA fragmentation values. Preimplantation genetic screening enables the detection of euploid embryos in couples affected by balanced chromosome rearrangements and increased sperm DNA fragmentation. Even though sperm DNA fragmentation may potentially have clinical consequences on fertility, comprehensive preimplantation genetic screening allows for the identification and transfer of euploid embryos. Copyright © 2015. Published by Elsevier Inc.

  11. Effort-Reward Imbalance and Burnout Among ICU Nursing Staff: A Cross-Sectional Study.

    Science.gov (United States)

    Padilla Fortunatti, Cristobal; Palmeiro-Silva, Yasna K

    Occupational stress is commonly observed among staff in intensive care units (ICUs). Sociodemographic, organizational, and job-related factors may lead to burnout among ICU health workers. In addition, these factors could modify the balance between efforts done and rewards perceived by workers; consequently, this imbalance could increase levels of emotional exhaustion and depersonalization and decrease a sense of personal accomplishment. The purpose of this study was to analyze the relationship between effort-reward imbalance and burnout dimensions (emotional exhaustion, depersonalization, and personal accomplishment) among ICU nursing staff in a university hospital in Santiago, Chile. A convenience sample of 36 registered nurses and 46 nurse aides answered the Maslach Burnout Inventory and Effort-Reward Imbalance Questionnaire and provided sociodemographic and work-related data. Age and effort-reward imbalance were significantly associated with emotional exhaustion in both registered nurses and nurse aides; age was negatively correlated with emotional exhaustion, whereas effort-reward imbalance was positively correlated. Age was negatively associated with depersonalization. None of the predictors were associated with personal accomplishment. This study adds valuable information about relationships of sociodemographic factors and effort-reward imbalance and their impact on dimensions of burnout, particularly on emotional exhaustion.

  12. Analysis of the imbalance price scheme in the Spanish electricity market: A wind power test case

    International Nuclear Information System (INIS)

    Bueno-Lorenzo, Miriam; Moreno, M. Ángeles; Usaola, Julio

    2013-01-01

    This work investigates the interaction between wind power and electricity markets. The paper is focused on balancing markets pricing policies. The proposal of a new imbalance price scheme is included and conveniently evaluated. This proposed scheme tries to minimise the use of ancillary services to compensate for deviations in searching for a more efficient market design. The effectiveness of imbalance prices as market signals is also examined, and policy recommendations regarding imbalance services are discussed. Two test cases are included that analyse the participation of a wind power producer in the Spanish electricity market using a stochastic optimisation strategy. For this purpose, the uncertainty of the variables is considered, i.e., wind power production and prediction, intraday and imbalance prices. Test cases were run with real data for 10 months, and realistic results are presented along with a hypothetical test case. The regulation of the imbalance prices may not be adequate for the Spanish electricity market because an error drop is not sufficiently encouraged. Therefore, we suggest the application of a new imbalance price scheme, which includes an additional constraint. The conclusions of this paper can be assumed to be general policy recommendations

  13. Investigation of Psychological Health and Migraine Headaches Among Personnel According to Effort-Reward Imbalance Model

    Directory of Open Access Journals (Sweden)

    Z. Darami

    2012-05-01

    Full Text Available Background and aims: The relationship between physical-mental health and Migraine headaches and stress, especially job stress, is known. Many factors can construct job stress in work settings. The factor that has gained much attention recently is inequality (imbalance of employees’ effort versus the reward they gain. The aim of the current attempt was to investigate the validity of effort-reward imbalance model and indicate the relation of this model with migraine headaches and psychological well-being among subjects in balance and imbalance groups. Methods: Participants were 180 personnel of Oil distribution company located in Isfahan city, and instruments used were General health questionnaire (Goldberg & Hilier, Social Re-adjustment Rating Scale (Holmes & Rahe, Ahvaz Migraine Questionnaire (Najariyan and Effort-reward imbalance scale (Van Vegchel & et al.   Results: The result of exploratory and confirmatory factor analysis for investigating the Construct validity of the effort-reward imbalance model showed that in both analyses, the two factor model was confirmed. Moreover, findings indicate that balance group was in better psychological (p<0/01 and physical (migraine (p<0/05 status comparing to the imbalance group. These findings indicate the significance of justice to present appropriate reward relative to personnel performance on their health.   Conclusion: Implication of these findings can improve Iranian industrial personnel health from both physical and psychological aspects.  

  14. Double-adjustment in propensity score matching analysis: choosing a threshold for considering residual imbalance.

    Science.gov (United States)

    Nguyen, Tri-Long; Collins, Gary S; Spence, Jessica; Daurès, Jean-Pierre; Devereaux, P J; Landais, Paul; Le Manach, Yannick

    2017-04-28

    Double-adjustment can be used to remove confounding if imbalance exists after propensity score (PS) matching. However, it is not always possible to include all covariates in adjustment. We aimed to find the optimal imbalance threshold for entering covariates into regression. We conducted a series of Monte Carlo simulations on virtual populations of 5,000 subjects. We performed PS 1:1 nearest-neighbor matching on each sample. We calculated standardized mean differences across groups to detect any remaining imbalance in the matched samples. We examined 25 thresholds (from 0.01 to 0.25, stepwise 0.01) for considering residual imbalance. The treatment effect was estimated using logistic regression that contained only those covariates considered to be unbalanced by these thresholds. We showed that regression adjustment could dramatically remove residual confounding bias when it included all of the covariates with a standardized difference greater than 0.10. The additional benefit was negligible when we also adjusted for covariates with less imbalance. We found that the mean squared error of the estimates was minimized under the same conditions. If covariate balance is not achieved, we recommend reiterating PS modeling until standardized differences below 0.10 are achieved on most covariates. In case of remaining imbalance, a double adjustment might be worth considering.

  15. Age-Dependent and Lineage-Dependent Speciation and Extinction in the Imbalance of Phylogenetic Trees.

    Science.gov (United States)

    Holman, Eric W

    2017-11-01

    It is known that phylogenetic trees are more imbalanced than expected from a birth-death model with constant rates of speciation and extinction, and also that imbalance can be better fit by allowing the rate of speciation to decrease as the age of the parent species increases. If imbalance is measured in more detail, at nodes within trees as a function of the number of species descended from the nodes, age-dependent models predict levels of imbalance comparable to real trees for small numbers of descendent species, but predicted imbalance approaches an asymptote not found in real trees as the number of descendent species becomes large. Age-dependence must therefore be complemented by another process such as inheritance of different rates along different lineages, which is known to predict insufficient imbalance at nodes with few descendent species, but can predict increasing imbalance with increasing numbers of descendent species. [Crump-Mode-Jagers process; diversification; macroevolution; taxon sampling; tree of life.]. © The Author(s) 2017. Published by Oxford University Press, on behalf of the Society of Systematic Biologists. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  16. Examining postconcussion symptoms of dizziness and imbalance on neurocognitive performance in collegiate football players.

    Science.gov (United States)

    Honaker, Julie A; Lester, Houston F; Patterson, Jessie N; Jones, Sherri M

    2014-07-01

    This study examined the effects of symptom reports of dizziness and imbalance on cognitive function in concussed collegiate football players. Retrospective, descriptive. University athletic medicine facility. Twenty-seven collegiate football players were included in the final analysis: 16 with symptoms of dizziness/imbalance resulting from concussion and 11 without dizziness/imbalance resulting from concussion. Participants completed the Immediate Postconcussion Assessment and Cognitive Testing (ImPACT) at baseline, at 1 to 2 days postconcussion and 5 to 7 days postconcussion. The ImPACT neurocognitive assessment consists of 6 modules, yielding 4 composite scores: verbal memory, visual memory, visual-motor processing speed, and reaction time. In addition, it includes a postconcussion symptom scale total score. Results revealed that participants with reports of dizziness and imbalance had significantly lower scores on the ImPACT composite scores; however, these individuals also had an overall higher symptom inventory. When accounting for the additional postconcussion symptoms, time was the only significant effect. Dizziness and imbalance are common symptoms postconcussion; however, these symptoms did not predict performance on acute ImPACT scores. Further research is needed to understand the mechanisms causing postconcussion symptoms, including symptoms of dizziness and imbalance, and influence on outcomes postconcussion.

  17. Erasure and reestablishment of random allelic expression imbalance after epigenetic reprogramming.

    Science.gov (United States)

    Jeffries, Aaron Richard; Uwanogho, Dafe Aghogho; Cocks, Graham; Perfect, Leo William; Dempster, Emma; Mill, Jonathan; Price, Jack

    2016-10-01

    Clonal level random allelic expression imbalance and random monoallelic expression provides cellular heterogeneity within tissues by modulating allelic dosage. Although such expression patterns have been observed in multiple cell types, little is known about when in development these stochastic allelic choices are made. We examine allelic expression patterns in human neural progenitor cells before and after epigenetic reprogramming to induced pluripotency, observing that loci previously characterized by random allelic expression imbalance (0.63% of expressed genes) are generally reset to a biallelic state in induced pluripotent stem cells (iPSCs). We subsequently neuralized the iPSCs and profiled isolated clonal neural stem cells, observing that significant random allelic expression imbalance is reestablished at 0.65% of expressed genes, including novel loci not found to show allelic expression imbalance in the original parental neural progenitor cells. Allelic expression imbalance was associated with altered DNA methylation across promoter regulatory regions, with clones characterized by skewed allelic expression being hypermethylated compared to their biallelic sister clones. Our results suggest that random allelic expression imbalance is established during lineage commitment and is associated with increased DNA methylation at the gene promoter. © 2016 Jeffries et al.; Published by Cold Spring Harbor Laboratory Press for the RNA Society.

  18. Wide brick tunnel randomization - an unequal allocation procedure that limits the imbalance in treatment totals.

    Science.gov (United States)

    Kuznetsova, Olga M; Tymofyeyev, Yevgen

    2014-04-30

    In open-label studies, partial predictability of permuted block randomization provides potential for selection bias. To lessen the selection bias in two-arm studies with equal allocation, a number of allocation procedures that limit the imbalance in treatment totals at a pre-specified level but do not require the exact balance at the ends of the blocks were developed. In studies with unequal allocation, however, the task of designing a randomization procedure that sets a pre-specified limit on imbalance in group totals is not resolved. Existing allocation procedures either do not preserve the allocation ratio at every allocation or do not include all allocation sequences that comply with the pre-specified imbalance threshold. Kuznetsova and Tymofyeyev described the brick tunnel randomization for studies with unequal allocation that preserves the allocation ratio at every step and, in the two-arm case, includes all sequences that satisfy the smallest possible imbalance threshold. This article introduces wide brick tunnel randomization for studies with unequal allocation that allows all allocation sequences with imbalance not exceeding any pre-specified threshold while preserving the allocation ratio at every step. In open-label studies, allowing a larger imbalance in treatment totals lowers selection bias because of the predictability of treatment assignments. The applications of the technique in two-arm and multi-arm open-label studies with unequal allocation are described. Copyright © 2013 John Wiley & Sons, Ltd.

  19. Allostatic Load and Effort-Reward Imbalance: Associations over the Working-Career.

    Science.gov (United States)

    Coronado, José Ignacio Cuitún; Chandola, Tarani; Steptoe, Andrew

    2018-01-24

    Although associations between work stressors and stress-related biomarkers have been reported in cross-sectional studies, the use of single time measurements of work stressors could be one of the reasons for inconsistent associations. This study examines whether repeated reports of work stress towards the end of the working career predicts allostatic load, a measure of chronic stress related physiological processes. Data from waves 2 to 6 of the English Longitudinal Study of Ageing (ELSA) were analysed, with a main analytical sample of 2663 older adults (aged 50+) who had at least one measurement of effort-reward imbalance between waves 2-6 and a measurement of allostatic load at wave 6. Cumulative work stress over waves 2-6 were measured by the effort-reward imbalance model. ELSA respondents who had reported two or more occasions of imbalance had a higher (0.3) estimate of the allostatic load index than those who did not report any imbalance, controlling for a range of health and socio-demographic factors, as well as allostatic load at baseline. More recent reports of imbalance were significantly associated with a higher allostatic load index, whereas reports of imbalance from earlier waves of ELSA were not. The accumulation of work related stressors could have adverse effects on chronic stress biological processes.

  20. Effects of specific muscle imbalance improvement training on the balance ability in elite fencers.

    Science.gov (United States)

    Kim, Taewhan; Kil, Sekee; Chung, Jinwook; Moon, Jeheon; Oh, Eunyoung

    2015-05-01

    [Purpose] The lunge Motion that occurs frequently in fencing training and matches results in imbalance of the upper and lower limbs muscles. This research focuses on the improvement of the imbalance that occurs in the national team fencers of the Republic of Korea through specific muscle imbalance improvement training. [Subjects] The subjects of this research were limited to right-handed male fencers. Nine male, right-handed national fencing athletes were selected for this study (4 epee, 5 sabre; age 28.2 ± 2.2 years; height 182.3 ± 4.0 cm; weight 76.5 ± 8.2 kg; experience 12.4 ± 3.0 years). [Methods] The specific muscle imbalance improvement training program was performed for 12 weeks and Pre-Post tests were to evaluate its effect on the experimental group. Measurements comprised anthropometry, test of balance, and movement analysis. [Results] After the training program, mediolateral sway of the nondominant lower limb and the balance scale showed statistically significant improvement. [Conclusion] The specific muscle imbalance improvement training program used in this research was proven to be effective for improving the muscle imbalance of elite fencers.

  1. Tree imbalance causes a bias in phylogenetic estimation of evolutionary timescales using heterochronous sequences.

    Science.gov (United States)

    Duchêne, David; Duchêne, Sebastian; Ho, Simon Y W

    2015-07-01

    Phylogenetic estimation of evolutionary timescales has become routine in biology, forming the basis of a wide range of evolutionary and ecological studies. However, there are various sources of bias that can affect these estimates. We investigated whether tree imbalance, a property that is commonly observed in phylogenetic trees, can lead to reduced accuracy or precision of phylogenetic timescale estimates. We analysed simulated data sets with calibrations at internal nodes and at the tips, taking into consideration different calibration schemes and levels of tree imbalance. We also investigated the effect of tree imbalance on two empirical data sets: mitogenomes from primates and serial samples of the African swine fever virus. In analyses calibrated using dated, heterochronous tips, we found that tree imbalance had a detrimental impact on precision and produced a bias in which the overall timescale was underestimated. A pronounced effect was observed in analyses with shallow calibrations. The greatest decreases in accuracy usually occurred in the age estimates for medium and deep nodes of the tree. In contrast, analyses calibrated at internal nodes did not display a reduction in estimation accuracy or precision due to tree imbalance. Our results suggest that molecular-clock analyses can be improved by increasing taxon sampling, with the specific aims of including deeper calibrations, breaking up long branches and reducing tree imbalance. © 2014 John Wiley & Sons Ltd.

  2. Social Management of Gender Imbalance in China: A Holistic Governance Framework.

    Science.gov (United States)

    Shuzhuo, Li; Zijuan, Shang; Feldman, Marcus W

    2013-08-31

    Since the 1980s, the sex ratio at birth (abbreviated as SRB) in China has been rising and has remained extremely high. With rapid social transition, gender imbalance has become one of the most significant issues of China's social management and has raised many problems and challenges. Innovation in the management principles and public policies of social management urgently needs a new perspective of holistic governance framework. Based on the latest trends in gender imbalance, using data from China's 2010 Population Census, this paper firstly reviews China's strategic policy responses and actions concerning the governance of the male-skewed SRB. With holistic governance theory, we focus on China's "Care for Girls" campaign to analyze the current public policy system. This paper then reveals fragmentation in the current management of China's gender imbalance. Finally we propose a social management framework for addressing China's gender imbalance. The public system needs to be strengthened, and the Chinese government should focus more on vulnerable groups such as forced bachelors in rural areas, and try to bring those groups into the policy framework for governance of gender imbalance. The proposed theoretical framework may help Chinese governments at various levels to design and implement improved social management of gender imbalance issues.

  3. Vibration-Induced Errors in MEMS Tuning Fork Gyroscopes with Imbalance.

    Science.gov (United States)

    Fang, Xiang; Dong, Linxi; Zhao, Wen-Sheng; Yan, Haixia; Teh, Kwok Siong; Wang, Gaofeng

    2018-05-29

    This paper discusses the vibration-induced error in non-ideal MEMS tuning fork gyroscopes (TFGs). Ideal TFGs which are thought to be immune to vibrations do not exist, and imbalance between two gyros of TFGs is an inevitable phenomenon. Three types of fabrication imperfections (i.e., stiffness imbalance, mass imbalance, and damping imbalance) are studied, considering different imbalance radios. We focus on the coupling types of two gyros of TFGs in both drive and sense directions, and the vibration sensitivities of four TFG designs with imbalance are simulated and compared. It is found that non-ideal TFGs with two gyros coupled both in drive and sense directions (type CC TFGs) are the most insensitive to vibrations with frequencies close to the TFG operating frequencies. However, sense-axis vibrations with in-phase resonant frequencies of a coupled gyros system result in severe error outputs to TFGs with two gyros coupled in the sense direction, which is mainly attributed to the sense capacitance nonlinearity. With increasing stiffness coupled ratio of the coupled gyros system, the sensitivity to vibrations with operating frequencies is cut down, yet sensitivity to vibrations with in-phase frequencies is amplified.

  4. Imbalance in multiple sclerosis and neuromyelitis optica: association with deep sensation disturbance.

    Science.gov (United States)

    Demura, Yutaka; Kinoshita, Masako; Fukuda, Osamu; Nose, Shouzou; Nakano, Hitoshi; Juzu, Akira; Murase, Nagako; Yamamoto, Kenji

    2016-12-01

    Abnormality in balance is one of the most important causes of gait disturbance which has a direct impact to disability and medical cost in multiple sclerosis (MS) and neuromyelitis optica (NMO). However, characteristics of imbalance in these two diseases have not been fully elucidated. The aim of this study was to evaluate the degree and features of imbalance using stabilography, the degree of deep sensation disturbance using tibial nerve somatosensory evoked potentials (SEP), and their association with clinical impairment, in patients with MS and NMO. Seven NMO patients and seven MS patients with balance disturbance were examined. The relationship among stabilography measurements representing the degree and features of imbalance, height-adjusted P38 peak latency of SEP, and neurological functional disability, were analyzed. Stabilography evaluation showed a significantly severer degree of imbalance in NMO than in MS. Romberg quotient of the patients with brainstem lesions was significantly larger than those without them. In all patients, length of excursion per second significantly correlated positively with anterio-posterior-axis power spectra at intermediate frequency band. In all patients and in NMO, P38 peak latency adjusted by height significantly correlated positively with anterio-posterior-axis power spectra at intermediate frequency band. These findings suggest that the degree of imbalance of MS and NMO possibly correlate with deep sensation disturbance, which could be evaluated by anterio-posterior-axis power spectra at intermediate frequency band by stabilography. Severer imbalance in NMO than MS may be associated with the severe longitudinally extensive spinal cord lesions.

  5. Allostatic Load and Effort-Reward Imbalance: Associations over the Working-Career

    Directory of Open Access Journals (Sweden)

    José Ignacio Cuitún Coronado

    2018-01-01

    Full Text Available Although associations between work stressors and stress-related biomarkers have been reported in cross-sectional studies, the use of single time measurements of work stressors could be one of the reasons for inconsistent associations. This study examines whether repeated reports of work stress towards the end of the working career predicts allostatic load, a measure of chronic stress related physiological processes. Data from waves 2 to 6 of the English Longitudinal Study of Ageing (ELSA were analysed, with a main analytical sample of 2663 older adults (aged 50+ who had at least one measurement of effort-reward imbalance between waves 2–6 and a measurement of allostatic load at wave 6. Cumulative work stress over waves 2–6 were measured by the effort-reward imbalance model. ELSA respondents who had reported two or more occasions of imbalance had a higher (0.3 estimate of the allostatic load index than those who did not report any imbalance, controlling for a range of health and socio-demographic factors, as well as allostatic load at baseline. More recent reports of imbalance were significantly associated with a higher allostatic load index, whereas reports of imbalance from earlier waves of ELSA were not. The accumulation of work related stressors could have adverse effects on chronic stress biological processes.

  6. Chromosome analysis of arsenic affected cattle

    Directory of Open Access Journals (Sweden)

    S. Shekhar

    2014-10-01

    Full Text Available Aim: The aim was to study the chromosome analysis of arsenic affected cattle. Materials and Methods: 27 female cattle (21 arsenic affected and 6 normal were selected for cytogenetical study. The blood samples were collected, incubated, and cultured using appropriate media and specific methods. The samples were analyzed for chromosome number and morphology, relative length of the chromosome, arm ratio, and centromere index of X chromosome and chromosomal abnormalities in arsenic affected cattle to that of normal ones. Results: The diploid number of metaphase chromosomes in arsenic affected cattle as well as in normal cattle were all 2n=60, 58 being autosomes and 2 being sex chromosomes. From the centromeric position, karyotyping studies revealed that all the 29 pair of autosomes was found to be acrocentric or telocentric, and the sex chromosomes (XX were submetacentric in both normal and arsenic affected cattle. The relative length of all the autosome pairs and sex chrosomosome pair was found to be higher in normal than that of arsenic affected cattle. The mean arm ratio of X-chromosome was higher in normal than that of arsenic affected cattle, but it is reverse in case of centromere index value of X-chromosome. There was no significant difference of arm ratio and centromere index of X-chromosomes between arsenic affected and normal cattle. No chromosomal abnormalities were found in arsenic affected cattle. Conclusion: The chromosome analysis of arsenic affected cattle in West Bengal reported for the first time in this present study which may serve as a guideline for future studies in other species. These reference values will also help in comparison of cytological studies of arsenic affected cattle to that of various toxicants.

  7. Chromosomal abnormalities in human glioblastomas: gain in chromosome 7p correlating with loss in chromosome 10q.

    Science.gov (United States)

    Inda, María del Mar; Fan, Xing; Muñoz, Jorge; Perot, Christine; Fauvet, Didier; Danglot, Giselle; Palacio, Ana; Madero, Pilar; Zazpe, Idoya; Portillo, Eduardo; Tuñón, Teresa; Martínez-Peñuela, José María; Alfaro, Jorge; Eiras, José; Bernheim, Alain; Castresana, Javier S

    2003-01-01

    Various genomic alterations have been detected in glioblastoma. Chromosome 7p, with the epidermal growth factor receptor locus, together with chromosome 10q, with the phosphatase and tensin homologue deleted in chromosome 10 and deleted in malignant brain tumors-1 loci, and chromosome 9p, with the cyclin-dependent kinase inhibitor 2A locus, are among the most frequently damaged chromosomal regions in glioblastoma. In this study, we evaluated the genetic status of 32 glioblastomas by comparative genomic hybridization; the sensitivity of comparative genomic hybridization versus differential polymerase chain reaction to detect deletions at the phosphatase and tensin homologue deleted in chromosome 10, deleted in malignant brain tumors-1, and cyclin-dependent kinase inhibitor 2A loci and amplifications at the cyclin-dependent kinase 4 locus; the frequency of genetic lesions (gain or loss) at 16 different selected loci (including oncogenes, tumor-suppressor genes, and proliferation markers) mapping on 13 different chromosomes; and the possible existence of a statistical association between any pair of molecular markers studied, to subdivide the glioblastoma entity molecularly. Comparative genomic hybridization showed that the most frequent region of gain was chromosome 7p, whereas the most frequent losses occurred on chromosomes 10q and 13q. The only statistically significant association was found for 7p gain and 10q loss. Copyright 2002 Wiley-Liss, Inc.

  8. Persistence of chromosomal abnormalities additional to the Philadelphia chromosome after Philadelphia chromosome disappearance during imatinib therapy for chronic myeloid leukemia.

    Science.gov (United States)

    Zaccaria, Alfonso; Valenti, Anna Maria; Donti, Emilio; Gozzetti, Alessandro; Ronconi, Sonia; Spedicato, Francesco

    2007-04-01

    Five Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) patients with additional chromosome abnormalities at diagnosis have been followed during Imatinib therapy. In all, the Ph chromosome disappeared, while the 5 cases, additional abnormalities [dup(1); del(5), +8 (2 patients) and +14] persisted in the subsequent studies, performed over a period of 11 to 49 months, either alone or together with a karyotypically normal cell population. This finding is consistent with a secondary origin of the Ph chromosome in these patients. It is still to early to evaluate the possible prognostic value of these additional abnormalities.

  9. Chromosomes

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  10. Investigation of X-ray-induced chromosome aberrations in 'preleukaemic' mammalian cells

    International Nuclear Information System (INIS)

    Szollar, J.

    1977-01-01

    A study was done on the frequency of numerical and structural aberrations induced by different doses of X-ray irradiation in spontaneously leukaemic AKR mice, compared with the values of healthy control CBA/H-T 6 T 6 mice. Both were irradiated under the same conditions, but their chromosomes were affected in a different way. The number of cells containing aneuploid sets, rings, fragments, or metacentric chromosomes was significantly higher in the 2-month-old AKR mice than in the control CBA group. The increased chromosomal fragility found in AKR bone marrow cells 5-7 months before the manifestation of lymphoid leukaemia might be an important factor in the development of malignant condition. This genetic imbalance could provide a possible reason for an increase of spontaneous malfunction of the cellular system, as well as for an increased sensitivity to external factors. Thus it might be connected directly with the predisposition to malignant growth, or it has an indirect role helping virus activation, or acting together with the immune deficiency, by creating a weaker system that is more sensitive to carcinogenic agents

  11. Chromosome engineering: power tools for plant genetics.

    Science.gov (United States)

    Chan, Simon W L

    2010-12-01

    The term "chromosome engineering" describes technologies in which chromosomes are manipulated to change their mode of genetic inheritance. This review examines recent innovations in chromosome engineering that promise to greatly increase the efficiency of plant breeding. Haploid Arabidopsis thaliana have been produced by altering the kinetochore protein CENH3, yielding instant homozygous lines. Haploid production will facilitate reverse breeding, a method that downregulates recombination to ensure progeny contain intact parental chromosomes. Another chromosome engineering success is the conversion of meiosis into mitosis, which produces diploid gametes that are clones of the parent plant. This is a key step in apomixis (asexual reproduction through seeds) and could help to preserve hybrid vigor in the future. New homologous recombination methods in plants will potentiate many chromosome engineering applications. Copyright © 2010 Elsevier Ltd. All rights reserved.

  12. Chromosome Mis-segregation Generates Cell-Cycle-Arrested Cells with Complex Karyotypes that Are Eliminated by the Immune System.

    Science.gov (United States)

    Santaguida, Stefano; Richardson, Amelia; Iyer, Divya Ramalingam; M'Saad, Ons; Zasadil, Lauren; Knouse, Kristin A; Wong, Yao Liang; Rhind, Nicholas; Desai, Arshad; Amon, Angelika

    2017-06-19

    Aneuploidy, a state of karyotype imbalance, is a hallmark of cancer. Changes in chromosome copy number have been proposed to drive disease by modulating the dosage of cancer driver genes and by promoting cancer genome evolution. Given the potential of cells with abnormal karyotypes to become cancerous, do pathways that limit the prevalence of such cells exist? By investigating the immediate consequences of aneuploidy on cell physiology, we identified mechanisms that eliminate aneuploid cells. We find that chromosome mis-segregation leads to further genomic instability that ultimately causes cell-cycle arrest. We further show that cells with complex karyotypes exhibit features of senescence and produce pro-inflammatory signals that promote their clearance by the immune system. We propose that cells with abnormal karyotypes generate a signal for their own elimination that may serve as a means for cancer cell immunosurveillance. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Advances in plant chromosome genomics

    Czech Academy of Sciences Publication Activity Database

    Doležel, Jaroslav; Vrána, Jan; Cápal, Petr; Kubaláková, Marie; Burešová, Veronika; Šimková, Hana

    2014-01-01

    Roč. 32, č. 1 (2014), s. 122-136 ISSN 0734-9750 R&D Projects: GA ČR GAP501/10/1740; GA ČR GAP501/10/1778; GA ČR GBP501/12/G090; GA MŠk(CZ) LO1204 Grant - others:GA MŠk(CZ) ED0007/01/01 Program:ED Institutional support: RVO:61389030 Keywords : BAC library * Chromosome sorting * Cytogenetics Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 9.015, year: 2014

  14. Giemsa C-banding of Barley Chromosomes. IV. Chromosomal Constitution of Autotetraploid Barley

    DEFF Research Database (Denmark)

    Linde-Laursen, Ib

    1984-01-01

    The progeny of an autotetraploid barley plant (C1) consisted of 45 tetraploids and 33 aneuploids. Giemsa C-banding was used to identify each of the chromosomes in 20 euploid and 31 aneuploid C2--seedlings, and in 11 C3--offspring of aneuploid C2--plants. The euploid C2--seedlings all had four...... homologues of each of the chromosomes. The aneuploid C2--seedlings were fairly equally distributed on hypo-and hyperploids, and on the seven chromosome groups. This suggests that a particular chromosome is lost or gained at random in gametes and embryos. The 11 C3--seedlings comprised seven true euploids......, one seedling with 2n=28 having an extra chromosome 6 and missing one chromosome 3, and three seedlings with 2n=29. The chromosomal composition of aneuploid C3--seedlings did not reflect that of their aneuploid C2--parents with respect to missing or extra chromosomes. Two hypohexaploid C2--seedlings...

  15. Evaluation of Chromosomal Abnormalities and Common ...

    African Journals Online (AJOL)

    Evaluation of Chromosomal Abnormalities and Common Trombophilic Mutations in Cases with Recurrent Miscarriage. Ahmet Karatas, Recep Eroz, Mustafa Albayrak, Tulay Ozlu, Bulent Cakmak, Fatih Keskin ...

  16. Reflections and meditations upon complex chromosomal exchanges.

    Science.gov (United States)

    Savage, John R K

    2002-12-01

    The application of FISH chromosome painting techniques, especially the recent mFISH (and its equivalents) where all 23 human chromosome pairs can be distinguished, has demonstrated that many chromosome-type structural exchanges are much more complicated (involving more "break-rejoins" and arms) than has hitherto been assumed. It is clear that we have been greatly under-estimating the damage produced in chromatin by such agents as ionising radiation. This article gives a brief historical summary of observations leading up to this conclusion, and after outlining some of the problems surrounding the formation of complex chromosomes exchanges, speculates about possible solutions currently being proposed.

  17. Chromosomal aberrations in ore miners of Slovakia

    International Nuclear Information System (INIS)

    Beno, M.; Vladar, M.; Nikodemova, D.; Vicanova, M.; Durcik, M.

    1998-01-01

    A pilot study was performed in which the incidence of chromosomal aberrations in lymphocytes of miners in ore mines located in Central Slovakia was monitored and related to lifetime underground radon exposure and to lifetime smoking. The conclusions drawn from the results of the study were as follows: the counts of chromosomal aberrations in lymphocytes of miners were significantly higher than in an age matched control group of white-collar staff; the higher counts of chromosomal aberrations could be ascribed to underground exposure of miners and to smoking; a dependence of chromosomal aberration counts on the exposure to radon could not be assessed. (A.K.)

  18. Chromosome heteromorphisms in the Japanese, 3

    International Nuclear Information System (INIS)

    Sofuni, Toshio; Awa, A.A.

    1982-12-01

    The type and frequency of chromosome variants detected by the C-staining method were ascertained in 1,857 individuals residing in Hiroshima. The most frequent heteromorphic variant was the total inversion of the C-band in chromosome 9 found in 27 individuals (1.45%). The total inversion of the C-band in chromosome 1 was not seen in this sample, but the partial inversion of the C-band in chromosome 1 was found in 18 persons (0.97%). Partial inversion was also detected in the C-band in chromosome 9 in 22 individuals (1.18%). In chromosome 16, neither total nor partial inversion of the C-band was observed in the present study. The frequencies of chromosomes 1, 9, and 16 with a very large C-band were 0.70%, 0.22%, and 0.54%, respectively. Aside from these (1, 9, and 16) a very large C-band was found occasionally in chromosomes 4, 5, 6, 11, 12, 14, and 15, and an unusual insertion of the Y chromosome was observed. A total of 128 C-band variants (6.89%) was found in the 1,857 Hiroshima residents. (author)

  19. Simultaneous scoring of 10 chromosomes (9,13,14,15,16,18,21,22,X, and Y) in interphase nuclei by using spectral imaging

    Science.gov (United States)

    Fung, Jingly; Weier, Heinz-Ulli G.; Goldberg, James D.; Pedersen, Roger A.

    1999-06-01

    Numerical aberrations involving parts of or entire chromosomes have detrimental effects on mammalian embryonic, and perinatal development. Only few fetuses with chromosomal imbalances survive to term, and their abnormalities lead to stillbirth or cause severely altered phenotypes in the offspring (such as trisomies involving chromosomes 13, 18, 21, and anomalies of X, and Y). Because aneuploidy of any of the 24 chromosomes will have significant consequences, an optimized preimplantation and prenatal genetic diagnosis (PGD) test will score all the chromosomes. Since most cells to be analyzed will be in interphase rather than metaphase, we developed a rapid procedure for the analysis of interphase cells such as lymphocytes, amniocytes, or early embryonic cells (blastomeres). Our approach was based on in situ hybridization of chromosome-specific non-isotopically labeled DNA probes and Spectral Imaging. The Spectral Imaging system uses an interferometer instead of standard emission filters in a fluorescence microscope to record high resolution spectra from fluorescently stained specimens. This bio-imaging system combines the techniques of fluorescence optical microscopy, charged coupled device imaging, Fourier spectroscopy, light microscopy, and powerful analysis software. The probe set used here allowed simultaneous detection of 10 chromosomes (9, 13, 14, 15, 16, 18, 21, 22, X, Y) in interphase nuclei. Probes were obtained commercially or prepared in-house. Following 16 - 40 h hybridization to interphase cells and removal of unbound probes, image spectra (range 450 - 850 nm, resolution 10 nm) were recorded and analyzed using an SD200 Spectral Imaging system (ASI, Carlsbad, CA). Initially some amniocytes were unscoreable due to their thickness, and fixation protocols had to be modified to achieve satisfactory results. In summary, this study shows the simultaneous detection of at least 10 different chromosomes in interphase cells using a novel approach for multi-chromosome

  20. Effect of effort-reward imbalance and burnout on infection control among Ecuadorian nurses.

    Science.gov (United States)

    Colindres, C V; Bryce, E; Coral-Rosero, P; Ramos-Soto, R M; Bonilla, F; Yassi, A

    2018-06-01

    Nurses are frequently exposed to transmissible infections, yet adherence to infection control measures is suboptimal. There has been inadequate research into how the psychosocial work environment affects compliance with infection control measures, especially in low- and middle-income countries. To examine the association between effort-reward imbalance, burnout and adherence to infection control measures among nurses in Ecuador. A cross-sectional study linking psychosocial work environment indicators to infection control adherence. The study was conducted among 333 nurses in four Ecuadorian hospitals. Self-administered questionnaires assessed demographic variables, perceived infection risk, effort-reward imbalance, burnout and infection control adherence. Increased effort-reward imbalance was found to be a unique incremental predictor of exposure to burnout, and burnout was a negative unique incremental predictor of nurses' self-reported adherence with infection control measures. Results suggest an effort-reward imbalance-burnout continuum, which, at higher levels, contributes to reduce adherence to infection control. The Ecuadorean government has made large efforts to improve universal access to health care, yet this study suggests that workplace demands on nurses remain problematic. This study highlights the contribution of effort-reward-imbalance-burnout continuum to the chain of infection by decreased adherence to infection control of nurses. Health authorities should closely monitor the effect of new policies on psychosocial work environment, especially when expanding services and increasing public accessibility with limited resources. Additionally, organizational and psychosocial interventions targeting effort-reward imbalance and burnout in nurses should be considered part of a complete infection prevention and control strategy. Further study is warranted to identify interventions that best ameliorate effort-reward imbalance and burnout in low- and middle

  1. Robust energy storage scheduling for imbalance reduction of strategically formed energy balancing groups

    International Nuclear Information System (INIS)

    Chakraborty, Shantanu; Okabe, Toshiya

    2016-01-01

    Imbalance (on-line energy gap between contracted supply and actual demand, and associated cost) reduction is going to be a crucial service for a Power Producer and Supplier (PPS) in the deregulated energy market. PPS requires forward market interactions to procure energy as precisely as possible in order to reduce imbalance energy. This paper presents, 1) (off-line) an effective demand aggregation based strategy for creating a number of balancing groups that leads to higher predictability of group-wise aggregated demand, 2) (on-line) a robust energy storage scheduling that minimizes the imbalance energy and cost of a particular balancing group considering the demand prediction uncertainty. The group formation is performed by a Probabilistic Programming approach using Bayesian Markov Chain Monte Carlo (MCMC) method after applied on the historical demand statistics. Apart from the group formation, the aggregation strategy (with the help of Bayesian Inference) also clears out the upper-limit of the required storage capacity for a formed group, fraction of which is to be utilized in on-line operation. For on-line operation, a robust energy storage scheduling method is proposed that minimizes expected imbalance energy and cost (a non-linear function of imbalance energy) while incorporating the demand uncertainty of a particular group. The proposed methods are applied on the real apartment buildings' demand data in Tokyo, Japan. Simulation results are presented to verify the effectiveness of the proposed methods. - Highlights: • Strategic method for intelligent energy balancing group formation using Bayesian MCMC. • Stochastic programming based robust and online energy storage (battery) scheduling. • Imbalance cost (regulation) and energy reduction of a balancing group. • Imbalance cost reduction of 80% attainable by considerably lower battery capacity.

  2. Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Montag, Judith; Syring, Mandy; Rose, Julia; Weber, Anna-Lena; Ernstberger, Pia; Mayer, Anne-Kathrin; Becker, Edgar; Keyser, Britta; Dos Remedios, Cristobal; Perrot, Andreas; van der Velden, Jolanda; Francino, Antonio; Navarro-Lopez, Francesco; Ho, Carolyn Yung; Brenner, Bernhard; Kraft, Theresia

    2017-08-01

    HCM, the most common inherited cardiac disease, is mainly caused by mutations in sarcomeric genes. More than a third of the patients are heterozygous for mutations in the MYH7 gene encoding for the β-myosin heavy chain. In HCM-patients, expression of the mutant and the wildtype allele can be unequal, thus leading to fractions of mutant and wildtype mRNA and protein which deviate from 1:1. This so-called allelic imbalance was detected in whole tissue samples but also in individual cells. There is evidence that the severity of HCM not only depends on the functional effect of the mutation itself, but also on the fraction of mutant protein in the myocardial tissue. Allelic imbalance has been shown to occur in a broad range of genes. Therefore, we aimed to examine whether the MYH7-alleles are intrinsically expressed imbalanced or whether the allelic imbalance is solely associated with the disease. We compared the expression of MYH7-alleles in non-HCM donors and in HCM-patients with different MYH7-missense mutations. In the HCM-patients, we identified imbalanced as well as equal expression of both alleles. Also at the protein level, allelic imbalance was determined. Most interestingly, we also discovered allelic imbalance and balance in non-HCM donors. Our findings therefore strongly indicate that apart from mutation-specific mechanisms, also non-HCM associated allelic-mRNA expression regulation may account for the allelic imbalance of the MYH7 gene in HCM-patients. Since the relative amount of mutant mRNA and protein or the extent of allelic imbalance has been associated with the severity of HCM, individual analysis of the MYH7-allelic expression may provide valuable information for the prognosis of each patient.

  3. Sagittal imbalance in patients with lumbar spinal stenosis and outcomes after simple decompression surgery.

    Science.gov (United States)

    Shin, E Kyung; Kim, Chi Heon; Chung, Chun Kee; Choi, Yunhee; Yim, Dahae; Jung, Whei; Park, Sung Bae; Moon, Jung Hyeon; Heo, Won; Kim, Sung-Mi

    2017-02-01

    Lumbar spinal stenosis (LSS) is the most common lumbar degenerative disease, and sagittal imbalance is uncommon. Forward-bending posture, which is primarily caused by buckling of the ligamentum flavum, may be improved via simple decompression surgery. The objectives of this study were to identify the risk factors for sagittal imbalance and to describe the outcomes of simple decompression surgery. This is a retrospective nested case-control study PATIENT SAMPLE: This was a retrospective study that included 83 consecutive patients (M:F=46:37; mean age, 68.5±7.7 years) who underwent decompression surgery and a minimum of 12 months of follow-up. The primary end point was normalization of sagittal imbalance after decompression surgery. Sagittal imbalance was defined as a C7 sagittal vertical axis (SVA) ≥40 mm on a 36-inch-long lateral whole spine radiograph. Logistic regression analysis was used to identify the risk factors for sagittal imbalance. Bilateral decompression was performed via a unilateral approach with a tubular retractor. The SVA was measured on serial radiographs performed 1, 3, 6, and 12 months postoperatively. The prognostic factors for sagittal balance recovery were determined based on various clinical and radiological parameters. Sagittal imbalance was observed in 54% (45/83) of patients, and its risk factors were old age and a large mismatch between pelvic incidence and lumbar lordosis. The 1-year normalization rate was 73% after decompression surgery, and the median time to normalization was 1 to 3 months. Patients who did not experience SVA normalization exhibited low thoracic kyphosis (hazard ratio [HR], 1.04; 95% confidence interval [CI], 1.02-1.10) (pimbalance was observed in more than 50% of LSS patients, but this imbalance was correctable via simple decompression surgery in 70% of patients. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Chromosomal instability can be induced by the formation of breakage-prone chromosome rearrangement junctions

    International Nuclear Information System (INIS)

    Allen, R.N.; Ritter, L.; Moore, S.R.; Grosovsky, A.J.

    2003-01-01

    Full text: Studies in our lab have led to the hypothesis that chromosomal rearrangements can generate novel breakage-prone sites, resulting in chromosomal instability acting predominantly in cis. For example, specific breakage of large blocks of centromeric region heterochromatin on chromosome 16q by treatment with 2,6-diaminopurine (DAP) is associated with repeated rearrangement of chromosome 16q during outgrowth of DAP-treated clones, thereby establishing a link between the initial site of damage and the occurrence of persistent chromosomal instability. Similarly, karyotypic analysis of gamma ray induced instability demonstrated that chromosomal rearrangements in sub-clones were significantly clustered near the site of previously identified chromosomal rearrangement junctions in unstable parental clones. This study investigates the hypothesis that integration of transfected sequences into host chromosomes could create breakage-prone junction regions and persistent genomic instability without exposure to DNA-damage agents. These junctions may mimic the unstable chromosomal rearrangements induced by DAP or radiation, and thus provide a test of the broader hypothesis that instability can to some extent be attributed to the formation of novel chromosomal breakage hot spots. These experiments were performed using human-hamster hybrid AL cells containing a single human chromosome 11, which was used to monitor instability in a chromosomal painting assay. AL cells were transfected with a 2.5 Kb fragment containing multiple copies of the 180 bp human alpha heterochromatic repeat, which resulted in chromosomal instability in 41% of the transfected clones. Parallel exposure to gamma-radiation resulted in a similar level of chromosomal instability, although control transfections with plasmid alone did not lead to karyotypic instability. Chromosomal instability induced by integration of alpha heterochromatic repeats was also frequently associated with delayed reproductive

  5. Chromosomal replicons of higher plants

    International Nuclear Information System (INIS)

    Van't Hof, J.

    1987-01-01

    This brief discussion of replicons of higher plants offers a glimpse into the properties of chromosomal DNA replication. It gives evidence that the S phase of unrelated plant species is comprised of temporally ordered replicon families that increase in number with genome size. This orderly process, which assures a normal inheritance of genetic material to recipient daughter cells, is maintained at the level of replicon clusters by two mutually exclusive mechanisms, one involving the rate at which single replicons replicate their allotment of DNA, and another by means of the tempo-pause. The same two mechanisms are used by cells to alter the pattern of chromosomal DNA replication just prior to and during normal development. Both mechanisms are genetically determined and produce genetic effects when disturbed of disrupted by additional non-conforming DNAs. Further insight into how these two mechanisms operate requires more molecular information about the nature of replicons and the factors that govern when a replicon family replicates. Plant material is a rich and ideal source for this information just awaiting exploitation. 63 refs

  6. Increased chromosome radiosensitivity during pregnancy

    International Nuclear Information System (INIS)

    Ricoul, Michelle; Sabatier, Laure; Dutrillaux, Bernard

    1997-01-01

    It was necessary to consider the risks of exposure of pregnant women, not only in relation to the child, but also in relation to their own hypersensitivity. We have demonstrated that pregnancy increases radiosensitivity of chromosome in the mouse at the end of gestation. This is of importance since it may have implications on radioprotection of pregnant women and give experimental guidelines to the problems of hypersensitivity to drugs and cancer aggravation during pregnancy. Blood obtained from women at various times of pregnancy was exposed to ionizing radiations. By comparison to non-pregnant women, an increase in chromosome breakage was observed in metaphases from lymphocytes, after short-term culture in the presence of the serum of the same donor. Immediately after delivery, this increase in radiosensitivity disappeared. In a prospective study, serial analyses showed a very strong correlation between the amount of pregnancy hormones, progesterone in particular, and the increase in radiosensitivity. Pregnant women may have an increased sensitivity to ionizing radiation during the second half of their pregnancy. This study provides the first evidence in human that radiosensitivity may vary in relation to physiological conditions

  7. Selfish X chromosomes and speciation.

    Science.gov (United States)

    Patten, Manus M

    2017-12-27

    In two papers published at about the same time almost thirty years ago, Frank (Evolution, 45, 1991a, 262) and Hurst and Pomiankowski (Genetics, 128, 1991, 841) independently suggested that divergence of meiotic drive systems-comprising genes that cheat meiosis and genes that suppress this cheating-might provide a general explanation for Haldane's rule and the large X-effect in interspecific hybrids. Although at the time, the idea was met with skepticism and a conspicuous absence of empirical support, the tide has since turned. Some of the clearest mechanistic explanations we have for hybrid male sterility involve meiotic drive systems, and several other cases of hybrid sterility are suggestive of a role for meiotic drive. In this article, I review these ideas and their descendants and catalog the current evidence for the meiotic drive model of speciation. In addition, I suggest that meiotic drive is not the only intragenomic conflict to involve the X chromosome and contribute to hybrid incompatibility. Sexually and parentally antagonistic selection pressures can also pit the X chromosome and autosomes against each other. The resulting intragenomic conflicts should lead to co-evolution within populations and divergence between them, thus increasing the likelihood of incompatibilities in hybrids. I provide a sketch of these ideas and interpret some empirical patterns in the light of these additional X-autosome conflicts. © 2017 John Wiley & Sons Ltd.

  8. Exchange of core chromosomes and horizontal transfer of lineage-specific chromosomes in Fusarium oxysporum

    NARCIS (Netherlands)

    Vlaardingerbroek, I.; Beerens, B.; Rose, L.; Fokkens, L.; Cornelissen, B.J.C.; Rep, M.

    2016-01-01

    Horizontal transfer of supernumerary or lineage-specific (LS) chromosomes has been described in a number of plant pathogenic filamentous fungi. So far it was not known whether transfer is restricted to chromosomes of certain size or properties, or whether 'core' chromosomes can also undergo

  9. Stabilization of chromosomes by DNA intercalators for flow karyotyping and identification by banding of isolated chromosomes

    NARCIS (Netherlands)

    Aten, J. A.; Buys, C. H.; van der Veen, A. Y.; Mesa, J. R.; Yu, L. C.; Gray, J. W.; Osinga, J.; Stap, J.

    1987-01-01

    A number of structurally unrelated DNA intercalators have been studied as stabilizers of mitotic chromosomes during isolation from rodent and human metaphase cells. Seven out of the nine intercalators tested were found to be useful as chromosome stabilizing agents. Chromosome suspensions prepared in

  10. Effort-reward imbalance and organisational injustice among aged nurses: a moderated mediation model.

    Science.gov (United States)

    Topa, Gabriela; Guglielmi, Dina; Depolo, Marco

    2016-09-01

    To test the effort-reward imbalance model among older nurses, expanding it to include the moderation of overcommitment and age in the stress-health complaints relationship, mediated by organisational injustice. The theoretical framework included the effort-reward imbalance, the uncertainty management and the socio-emotional selectivity models. Employing a two-wave design, the participants were 255 nurses aged 45 years and over, recruited from four large hospitals in Spain (Madrid and Basque Country). The direct effect of imbalance on health complaints was supported: it was significant when overcommitment was low but not when it was high. Organisational injustice mediated the influence of effort-reward imbalance on health complaints. The conditional effect of the mediation of organisational injustice was significant in three of the overcommitment/age conditions but it weakened, becoming non-significant, when the level of overcommitment was low and age was high. The study tested the model in nursing populations and expanded it to the settings of occupational health and safety at work. The results of this study highlight the importance of effort-reward imbalance and organisational justice for creating healthy work environments. © 2016 John Wiley & Sons Ltd.

  11. Carrier Frequency Offset Estimation and I/Q Imbalance Compensation for OFDM Systems

    Directory of Open Access Journals (Sweden)

    M. Omair Ahmad

    2007-01-01

    Full Text Available Two types of radio-frequency front-end imperfections, that is, carrier frequency offset and the inphase/quadrature (I/Q imbalance are considered for orthogonal frequency division multiplexing (OFDM communication systems. A preamble-assisted carrier frequency estimator is proposed along with an I/Q imbalance compensation scheme. The new frequency estimator reveals the relationship between the inphase and the quadrature components of the received preamble and extracts the frequency offset from the phase shift caused by the frequency offset and the cross-talk interference due to the I/Q imbalance. The proposed frequency estimation algorithm is fast, efficient, and robust to I/Q imbalance. An I/Q imbalance estimation/compensation algorithm is also presented by solving a least-square problem formulated using the same preamble as employed for the frequency offset estimation. The computational complexity of the I/Q estimation scheme is further reduced by using part of the short symbols with a little sacrifice in the estimation accuracy. Computer simulation and comparison with some of the existing algorithms are conducted, showing the effectiveness of the proposed method.

  12. Stress, autonomic imbalance, and the prediction of metabolic risk: A model and a proposal for research.

    Science.gov (United States)

    Wulsin, Lawson; Herman, James; Thayer, Julian F

    2018-03-01

    Devising novel prevention strategies for metabolic disorders will depend in part on the careful elucidation of the common pathways for developing metabolic risks. The neurovisceral integration model has proposed that autonomic imbalance plays an important role in the pathway from acute and chronic stress to cardiovascular disease. Though generally overlooked by clinicians, autonomic imbalance (sympathetic overactivity and/or parasympathetic underactivity) can be measured and modified by methods that are available in primary care. This review applies the neurovisceral integration concept to the clinical setting by proposing that autonomic imbalance plays a primary role in the development of metabolic risks. We present a testable model, a systematic review of the evidence in support of autonomic imbalance as a predictor for metabolic risks, and specific approaches to test this model as a guide to future research on the role of stress in metabolic disorders. We propose that autonomic imbalance deserves consideration by researchers, clinicians, and policymakers as a target for early interventions to prevent metabolic disorders. Published by Elsevier Ltd.

  13. Noninvasive Optoelectronic Assessment of Induced Sagittal Imbalance Using the Vicon System.

    Science.gov (United States)

    Ould-Slimane, Mourad; Latrobe, Charles; Michelin, Paul; Chastan, Nathalie; Dujardin, Franck; Roussignol, Xavier; Gauthé, Rémi

    2017-06-01

    Spinal diseases often induce gait disorders with multifactorial origins such as lumbar pain, radicular pain, neurologic complications, or spinal deformities. However, radiography does not permit an analysis of spinal dynamics; therefore, sagittal balance dynamics during gait remain largely unexplored. This prospective and controlled pilot study assessed the Vicon system for detecting sagittal spinopelvic imbalance, to determine the correlations between optoelectronic and radiographic parameters. Reversible anterior sagittal imbalance was induced in 24 healthy men using a thoracolumbar corset. Radiographic, optoelectronic, and comparative analyses were conducted. Corset wearing induced significant variations in radiographic parameters indicative of imbalance; the mean C7-tilt and d/D ratio increased by 15° ± 7.4° and 359%, respectively, whereas the mean spinosacral angle decreased by 16.8° ± 8° (all P imbalance; the mean spinal angle increased by 15.4° ± 5.6° (P imbalance detected using the Vicon system. Optoelectronic C7'S1' correlated with radiographic C7-tilt and d/D ratio. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Liquidity Effects on the Simultaneity of Trading Volume and Order Imbalance

    Directory of Open Access Journals (Sweden)

    Erman Denny Arfianto

    2016-10-01

    Full Text Available The purpose of this research is to analyze the simultaneity between trading volume and order imbalance, the influence of past performance, market risk, market capitalization, tick size to the trading volume and the influence of tick size, depth and bid-ask spread to the order imbalance of companies that were listed on LQ 45 index. The samples in this research were selected by using the purposive sampling method with some selected criteria. Fifty-five companies listed on 2014’s LQ 45 index were chosen as the sample. The results showed that the trading volume is simultaneously related to the order imbalance; past performance, market risk, and market capitalization have the positive and significant effect to the trading volume; tick size has the negative and significant effect to the trading volume; the order imbalance has the negative and insignificant effect to the trading volume; tick size, depth, bid-ask spread, and trading volume have no significant effect to the order imbalance.

  15. Incomplete sex chromosome dosage compensation in the Indian meal moth, Plodia interpunctella, based on de novo transcriptome assembly.

    Science.gov (United States)

    Harrison, Peter W; Mank, Judith E; Wedell, Nina

    2012-01-01

    Males and females experience differences in gene dose for loci in the nonrecombining region of heteromorphic sex chromosomes. If not compensated, this leads to expression imbalances, with the homogametic sex on average exhibiting greater expression due to the doubled gene dose. Many organisms with heteromorphic sex chromosomes display global dosage compensation mechanisms, which equalize gene expression levels between the sexes. However, birds and Schistosoma have been previously shown to lack chromosome-wide dosage compensation mechanisms, and the status in other female heterogametic taxa including Lepidoptera remains unresolved. To further our understanding of dosage compensation in female heterogametic taxa and to resolve its status in the lepidopterans, we assessed the Indian meal moth, Plodia interpunctella. As P. interpunctella lacks a complete reference genome, we conducted de novo transcriptome assembly combined with orthologous genomic location prediction from the related silkworm genome, Bombyx mori, to compare Z-linked and autosomal gene expression levels for each sex. We demonstrate that P. interpunctella lacks complete Z chromosome dosage compensation, female Z-linked genes having just over half the expression level of males and autosomal genes. This finding suggests that the Lepidoptera and possibly all female heterogametic taxa lack global dosage compensation, although more species will need to be sampled to confirm this assertion.

  16. Flow Analysis and Sorting of Plant Chromosomes

    Czech Academy of Sciences Publication Activity Database

    Vrána, Jan; Cápal, Petr; Šimková, Hana; Karafiátová, Miroslava; Čížková, Jana; Doležel, Jaroslav

    2016-01-01

    Roč. 78, Oct 10 (2016), 5.3.1-5.3.43 ISSN 1934-9300 R&D Projects: GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : cell cycle synchronization * chromosome genomics * chromosome isolation Subject RIV: EB - Genetics ; Molecular Biology

  17. Chromosome studies in Cashew ( Anacardium occidentale L ...

    African Journals Online (AJOL)

    Despite the increased cultivation of cashew as a commodity crop in sub-Sahara Africa, Asia and South America there are few chromosome studies on it. The present study investigates number, structure and behavior of chromosome in cashew populations growing in Nigeria. Cytological examination of these populations ...

  18. The Barley Chromosome 5 Linkage Map

    DEFF Research Database (Denmark)

    Jensen, J.; Jørgensen, Jørgen Helms

    1975-01-01

    The literature is surveyed for data on recombination between loci on chromosome 5 of barley; 13 loci fall into the category “mapped” loci, more than 20 into the category “associated” loci and nine into the category “loci once suggested to be on chromosome 5”. A procedure was developed...

  19. Statistics for X-chromosome associations.

    Science.gov (United States)

    Özbek, Umut; Lin, Hui-Min; Lin, Yan; Weeks, Daniel E; Chen, Wei; Shaffer, John R; Purcell, Shaun M; Feingold, Eleanor

    2018-06-13

    In a genome-wide association study (GWAS), association between genotype and phenotype at autosomal loci is generally tested by regression models. However, X-chromosome data are often excluded from published analyses of autosomes because of the difference between males and females in number of X chromosomes. Failure to analyze X-chromosome data at all is obviously less than ideal, and can lead to missed discoveries. Even when X-chromosome data are included, they are often analyzed with suboptimal statistics. Several mathematically sensible statistics for X-chromosome association have been proposed. The optimality of these statistics, however, is based on very specific simple genetic models. In addition, while previous simulation studies of these statistics have been informative, they have focused on single-marker tests and have not considered the types of error that occur even under the null hypothesis when the entire X chromosome is scanned. In this study, we comprehensively tested several X-chromosome association statistics using simulation studies that include the entire chromosome. We also considered a wide range of trait models for sex differences and phenotypic effects of X inactivation. We found that models that do not incorporate a sex effect can have large type I error in some cases. We also found that many of the best statistics perform well even when there are modest deviations, such as trait variance differences between the sexes or small sex differences in allele frequencies, from assumptions. © 2018 WILEY PERIODICALS, INC.

  20. Cytometric analysis of irradiation damaged chromosomes

    International Nuclear Information System (INIS)

    Wilder, M.E.; Raju, M.R.

    1982-01-01

    Irradiation of cells in interphase results in dose-dependent damage to DNA which is discernable by flow-cytometric analysis of chromosomes. The quantity (and possibly the quality) of chromosomal changes is different in survival-matched doses of x and α irradiation. It may, therefore, be possible to use these methods for analysis of dose and type of exposure in unknown cases

  1. X-chromosome inactivation and escape

    Indian Academy of Sciences (India)

    2015-11-06

    Nov 6, 2015 ... tion and cancer in mice after a long period of time (Yildirim et al. 2013). ... chromosome of man has a short pairing seg- ment, that is not normally ..... Lyon M. F. 1988 The William Allan memorial award address: X-chromosome ...

  2. Chromosomal evolution and phylogenetic analyses in Tayassu ...

    Indian Academy of Sciences (India)

    Chromosome preparation and karyotype description. The material analysed consists of chromosome preparations of the tayassuid species T. pecari (three individuals) and. P. tajacu (four individuals) and were made from short-term lymphocyte cultures of whole blood samples using standard protocols (Chaves et al. 2002).

  3. AFM image of an entire polygene chromosome

    International Nuclear Information System (INIS)

    Li Minqian; Takeuchi; Ikai, A.

    1994-01-01

    The author present AFM images of an entire polygene chromosome of Drosophila for the first time. Comparing with conventional optical microscope, the AFM image of the polygene chromosomes provides much higher resolution and 3-D measurement capability which will lead to finer scale gene mapping and identification

  4. A sexy spin on nonrandom chromosome segregation.

    Science.gov (United States)

    Charville, Gregory W; Rando, Thomas A

    2013-06-06

    Nonrandom chromosome segregation is an intriguing phenomenon linked to certain asymmetric stem cell divisions. In a recent report in Nature, Yadlapalli and Yamashita (2013) observe nonrandom segregation of X and Y chromosomes in Drosophila germline stem cells and shed light on the complex mechanisms of this fascinating process. Copyright © 2013 Elsevier Inc. All rights reserved.

  5. Temporal genomic evolution of bird sex chromosomes

    DEFF Research Database (Denmark)

    Wang, Zongji; Zhang, Jilin; Yang, Wei

    2014-01-01

    BACKGROUND: Sex chromosomes exhibit many unusual patterns in sequence and gene expression relative to autosomes. Birds have evolved a female heterogametic sex system (male ZZ, female ZW), through stepwise suppression of recombination between chrZ and chrW. To address the broad patterns and complex...... driving forces of Z chromosome evolution, we analyze here 45 newly available bird genomes and four species' transcriptomes, over their course of recombination loss between the sex chromosomes. RESULTS: We show Z chromosomes in general have a significantly higher substitution rate in introns and synonymous...... ('fast-Z' evolution). And species with a lower level of intronic heterozygosities tend to evolve even faster on the Z chromosome. Further analysis of fast-evolving genes' enriched functional categories and sex-biased expression patterns support that, fast-Z evolution in birds is mainly driven by genetic...

  6. Chromosome behaviour in Rhoeo spathacea var. variegata.

    Science.gov (United States)

    Lin, Y J

    1980-01-01

    Rhoeo spathacea var. variegata is unusual in that its twelve chromosomes are arranged in a ring at meiosis. The order of the chromosomes has been established, and each chromosome arm has been designated a letter in accordance with the segmental interchange theory. Chromosomes are often irregularly orientated at metaphase I. Chromosomes at anaphase I are generally distributed equally (6-6, 58.75%) although not necessarily balanced. Due to adjacent distribution, 7-5 distribution at anaphase I was frequently observed (24.17%), and due to lagging, 6-1-5 and 5-2-5 distributions were also observed (10.83% and 3.33% respectively). Three types of abnormal distribution, 8-4, 7-1-4 and 6-2-4 were observed very infrequently (2.92% total), and their possible origins are discussed. Irregularities, such as adjacent distribution and lagging, undoubtedly reduce the fertility of the plant because of the resulting unbalanced gametes.

  7. Chromosome reduction in Eleocharis maculosa (Cyperaceae).

    Science.gov (United States)

    da Silva, C R M; González-Elizondo, M S; Laforga Vanzela, A L

    2008-01-01

    Chromosome numbers in Cyperaceae lower than the typical basic number x = 5 have been described for only three species: Rhynchospora tenuis (n = 2), Fimbristylis umbellaris (n = 3) and Eleocharis subarticulata (n = 3). Eleocharis maculosa is recorded here as the fourth species of Cyperaceae that has a chromosome number lower than 2n = 10, with 2n = 8, 7 and 6. The karyotype differentiation in E. maculosa was studied using conventional staining (mitosis and meiosis), FISH with 45S and 5S rDNA and telomere probes. The results allow us to determine which chromosomes of the chromosome race with 2n = 10 fused to form the remaining reduced numbers, as well as to understand how the symploidy and translocation mechanisms were important in karyotype differentiation and the formation of chromosome races in Eleocharis. Copyright 2008 S. Karger AG, Basel.

  8. Energy Landscapes of Folding Chromosomes

    Science.gov (United States)

    Zhang, Bin

    The genome, the blueprint of life, contains nearly all the information needed to build and maintain an entire organism. A comprehensive understanding of the genome is of paramount interest to human health and will advance progress in many areas, including life sciences, medicine, and biotechnology. The overarching goal of my research is to understand the structure-dynamics-function relationships of the human genome. In this talk, I will be presenting our efforts in moving towards that goal, with a particular emphasis on studying the three-dimensional organization, the structure of the genome with multi-scale approaches. Specifically, I will discuss the reconstruction of genome structures at both interphase and metaphase by making use of data from chromosome conformation capture experiments. Computationally modeling of chromatin fiber at atomistic level from first principles will also be presented as our effort for studying the genome structure from bottom up.

  9. The Y chromosome of the Atelidae family (Platyrrhini): study by chromosome microdissection.

    Science.gov (United States)

    Gifalli-Iughetti, C; Koiffmann, C P

    2009-01-01

    In order to study the intergeneric variability of the Y chromosome, we describe the hybridization of the Y chromosome of Brachytelesarachnoides, obtained by microdissection, to metaphases of Atelesbelzebuthmarginatus, Lagothrixlagothricha, and Alouatta male specimens. Brachytelesarachnoides (Atelinae) has 62 chromosomes and a very small Y chromosome. Our results showed that the Brachytelesarachnoides Y chromosome probe hybridized to Lagothrixlagothricha metaphases yielding one hybridization signal on only the tiny Y chromosome, and when hybridized with Atelesbelzebuthmarginatus metaphases it yielded one hybridization signal on two thirds of the small acrocentric Y chromosome. However, no hybridization signal was observed in Alouatta metaphases (subfamily Alouattinae), a closely related genus in the Atelidae family. Furthermore, our data support a close phylogenetic relationship among Brachyteles, Ateles, and Lagothrix and their placement in the Atelinae subfamily, but exclude Alouatta from this group indicating its placement as basal to this group. Copyright 2009 S. Karger AG, Basel.

  10. Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration.

    Science.gov (United States)

    Bachtrog, Doris

    2013-02-01

    The human Y chromosome is intriguing not only because it harbours the master-switch gene that determines gender but also because of its unusual evolutionary history. The Y chromosome evolved from an autosome, and its evolution has been characterized by massive gene decay. Recent whole-genome and transcriptome analyses of Y chromosomes in humans and other primates, in Drosophila species and in plants have shed light on the current gene content of the Y chromosome, its origins and its long-term fate. Furthermore, comparative analysis of young and old Y chromosomes has given further insights into the evolutionary and molecular forces triggering Y-chromosome degeneration and into the evolutionary destiny of the Y chromosome.

  11. Relationship between effort-reward imbalance and hair cortisol concentration in female kindergarten teachers.

    Science.gov (United States)

    Qi, Xingliang; Zhang, Jing; Liu, Yapeng; Ji, Shuang; Chen, Zheng; Sluiter, Judith K; Deng, Huihua

    2014-04-01

    The present study aims to investigate the relationship between effort-reward imbalance and hair cortisol concentration among teachers to examine whether hair cortisol can be a biomarker of chronic work stress. Hair samples were collected from 39 female teachers from three kindergartens. Cortisol was extracted from the hair samples with methanol, and cortisol concentrations were measured with high performance liquid chromatography-tandem mass spectrometry. Work stress was measured using the effort-reward imbalance scale. The ratio of effort to reward showed significantly positive association with hair cortisol concentration. The cortisol concentration in the system increases with the effort-reward imbalance. Measurement of hair cortisol can become a useful biomarker of chronic work stress. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Effort-Reward Imbalance, Work-Privacy Conflict, and Burnout Among Hospital Employees.

    Science.gov (United States)

    Häusler, Nadine; Bopp, Matthias; Hämmig, Oliver

    2018-04-01

    Studies investigating the relative importance of effort-reward imbalance and work-privacy conflict for burnout risk between professional groups in the health care sector are rare and analyses by educational attainment within professional groups are lacking. The study population consists of 1422 hospital employees in Switzerland. Multivariate linear regression analyses with standardized coefficients were performed for the overall study population and stratified for professional groups refined for educational attainment. Work-privacy conflict is a strong predictor for burnout and more strongly associated with burnout than effort-reward imbalance in the overall study population and across all professional groups. Effort-reward imbalance only had a minor effect on burnout in tertiary-educated medical professionals. Interventions aiming at increasing the compatibility of work and private life may substantially help to decrease burnout risk of professionals working in a health care setting.

  13. Cardiovascular dysfunctions and sympathovagal imbalance in hypertension and prehypertension: physiological perspectives.

    Science.gov (United States)

    Pal, Gopal Krushna; Pal, Pravati; Nanda, Nivedita; Amudharaj, Dharmalingam; Adithan, Chandrasekaran

    2013-01-01

    Hypertension (HTN) and prehypertension (pre-HTN) have been identified as independent risk factors for adverse cardiovascular events. Recently, increased psychosocial stress and work stress have contributed to the increased prevalence of HTN and pre-HTN, in addition to the contribution of obesity, diabetes, poor food habits and physical inactivity. Irrespective of the etiology, sympathetic overactivity has been recognized as the main pathophysiologic mechanism in the genesis of HTN and pre-HTN. Sympathovagal imbalance owing to sympathetic overactivity and vagal withdrawal is reported to be the basis of many clinical disorders. However, the role played by vagal withdrawal has been under-reported. In this review, we have analyzed the pathophysiologic involvement of sympathovagal imbalance in the development of HTN and pre-HTN, and the link of sympathovagal imbalance to cardiovascular dysfunctions. We have emphasized that adaptation to a healthier lifestyle will help improve sympathovagal homeostasis and prevent the occurrence of HTN and pre-HTN.

  14. Thermal imbalance force modelling for a GPS satellite using the finite element method

    Science.gov (United States)

    Vigue, Yvonne; Schutz, Bob E.

    1991-01-01

    Methods of analyzing the perturbation due to thermal radiation and determining its effects on the orbits of GPS satellites are presented, with emphasis on the FEM technique to calculate satellite solar panel temperatures which are used to determine the magnitude and direction of the thermal imbalance force. Although this force may not be responsible for all of the force mismodeling, conditions may work in combination with the thermal imbalance force to produce such accelerations on the order of 1.e-9 m/sq s. If submeter accurate orbits and centimeter-level accuracy for geophysical applications are desired, a time-dependent model of the thermal imbalance force should be used, especially when satellites are eclipsing, where the observed errors are larger than for satellites in noneclipsing orbits.

  15. Occupational imbalance and the role of perceived stress in predicting stress-related disorders.

    Science.gov (United States)

    Håkansson, Carita; Ahlborg, Gunnar

    2017-03-02

    Stress-related disorders are the main reason for sick leave in many European countries. The aim of the present study was to explore whether perceived occupational imbalance predicts stress-related disorders, potential gender differences, and to explore the mediating role of perceived stress. Longitudinal data on 2223 employees in a public organization in Sweden were collected by surveys, and analyzed by logistic regression. Occupational imbalance predicted stress-related disorders among both women and men. However, what aspects of occupational imbalance which predicted stress-related disorders differ by gender. Perceived stress was not a mediator in these associations. How women and men perceived their occupational balance affected the risk of stress-related disorders. The results may be used to develop effective strategies to decrease stress-related disorders.

  16. Asynchronous Cholinergic Drive Correlates with Excitation-Inhibition Imbalance via a Neuronal Ca2+ Sensor Protein

    Directory of Open Access Journals (Sweden)

    Keming Zhou

    2017-05-01

    Full Text Available Excitation-inhibition imbalance in neural networks is widely linked to neurological and neuropsychiatric disorders. However, how genetic factors alter neuronal activity, leading to excitation-inhibition imbalance, remains unclear. Here, using the C. elegans locomotor circuit, we examine how altering neuronal activity for varying time periods affects synaptic release pattern and animal behavior. We show that while short-duration activation of excitatory cholinergic neurons elicits a reversible enhancement of presynaptic strength, persistent activation results to asynchronous and reduced cholinergic drive, inducing imbalance between endogenous excitation and inhibition. We find that the neuronal calcium sensor protein NCS-2 is required for asynchronous cholinergic release in an activity-dependent manner and dampens excitability of inhibitory neurons non-cell autonomously. The function of NCS-2 requires its Ca2+ binding and membrane association domains. These results reveal a synaptic mechanism implicating asynchronous release in regulation of excitation-inhibition balance.

  17. New fuzzy support vector machine for the class imbalance problem in medical datasets classification.

    Science.gov (United States)

    Gu, Xiaoqing; Ni, Tongguang; Wang, Hongyuan

    2014-01-01

    In medical datasets classification, support vector machine (SVM) is considered to be one of the most successful methods. However, most of the real-world medical datasets usually contain some outliers/noise and data often have class imbalance problems. In this paper, a fuzzy support machine (FSVM) for the class imbalance problem (called FSVM-CIP) is presented, which can be seen as a modified class of FSVM by extending manifold regularization and assigning two misclassification costs for two classes. The proposed FSVM-CIP can be used to handle the class imbalance problem in the presence of outliers/noise, and enhance the locality maximum margin. Five real-world medical datasets, breast, heart, hepatitis, BUPA liver, and pima diabetes, from the UCI medical database are employed to illustrate the method presented in this paper. Experimental results on these datasets show the outperformed or comparable effectiveness of FSVM-CIP.

  18. New Fuzzy Support Vector Machine for the Class Imbalance Problem in Medical Datasets Classification

    Directory of Open Access Journals (Sweden)

    Xiaoqing Gu

    2014-01-01

    Full Text Available In medical datasets classification, support vector machine (SVM is considered to be one of the most successful methods. However, most of the real-world medical datasets usually contain some outliers/noise and data often have class imbalance problems. In this paper, a fuzzy support machine (FSVM for the class imbalance problem (called FSVM-CIP is presented, which can be seen as a modified class of FSVM by extending manifold regularization and assigning two misclassification costs for two classes. The proposed FSVM-CIP can be used to handle the class imbalance problem in the presence of outliers/noise, and enhance the locality maximum margin. Five real-world medical datasets, breast, heart, hepatitis, BUPA liver, and pima diabetes, from the UCI medical database are employed to illustrate the method presented in this paper. Experimental results on these datasets show the outperformed or comparable effectiveness of FSVM-CIP.

  19. Amifostine Protection Against Mitomycin-induced Chromosomal Breakage in Fanconi Anaemia Lymphocytes

    Directory of Open Access Journals (Sweden)

    Miriam T. P. Lopes

    2008-08-01

    Full Text Available Fanconi anaemia (FA is a rare genetic chromosomal instability syndrome caused by impairment of DNA repair and reactive oxygen species (ROS imbalance. This disease is also related to bone marrow failure and cancer. Treatment of these complications with radiation and alkylating agents may enhance chromosomal breakage. We have evaluated the effect of amifostine (AMF on basal and mitomycin C (MMC-induced chromosomal breakage in FA blood cells using the micronucleus assay. The basal micronuclei count was higher among FA patients than healthy subjects. Pre-treatment with AMF significantly inhibited micronucleation induced by MMC in healthy subjects (23.4 ± 4.0 – MMC vs 12.3 ± 2.9 – AMF →MMC MN/1000CB, p < 0.01, one way ANOVA as well as in FA patients (80.0 ± 5.8 – MMC vs 40.1 ± 5.8 – AMF →MMC MN/1000CB, p < 0.01, ANOVA. Release of ROS by peripheral blood mononuclear cells treated with AMF →MMC and measured by chemoluminometry showed that AMF-protection was statistically higher among FA patients than in healthy individuals. Based on these results we suggest that AMF prevents chromosomal breakage induced by MMC, probably by its antioxidant effect.

  20. Multi-hop amplify-and-forward relaying cooperation in the presence of I/Q imbalance

    KAUST Repository

    Qi, Jian; Aï ssa, Sonia; Alouini, Mohamed-Slim

    2013-01-01

    In this paper, multi-hop cooperative networks implementing channel state information (CSI)-assisted amplify-and-forward (AF) relaying in the presence of in-phase and quadrature-phase (I/Q) imbalance are investigated. We propose a compensation algorithm for the I/Q imbalance. The performance of the multi-hop CSI-assisted AF cooperative networks with and without compensation for I/Q imbalance in Nakagami-m fading environment is evaluated in terms of average symbol error probability. Numerical results are provided and show that the proposed compensation method can effectively mitigate the impact of I/Q imbalance. © 2013 IEEE.

  1. Multi-hop amplify-and-forward relaying cooperation in the presence of I/Q imbalance

    KAUST Repository

    Qi, Jian

    2013-06-01

    In this paper, multi-hop cooperative networks implementing channel state information (CSI)-assisted amplify-and-forward (AF) relaying in the presence of in-phase and quadrature-phase (I/Q) imbalance are investigated. We propose a compensation algorithm for the I/Q imbalance. The performance of the multi-hop CSI-assisted AF cooperative networks with and without compensation for I/Q imbalance in Nakagami-m fading environment is evaluated in terms of average symbol error probability. Numerical results are provided and show that the proposed compensation method can effectively mitigate the impact of I/Q imbalance. © 2013 IEEE.

  2. The Relationship Between the Effort-Reward Imbalance and Psychosocial Health in Nurses

    Directory of Open Access Journals (Sweden)

    Fariborz Roshangar

    2017-09-01

    Full Text Available The health of nurses as providers of health affects the quality of care provided by health care organizations to patients. The effort-reward imbalance is accompanied by repressive responses that can lead to physical and psychological diseases as well as stressful experiences in nurses’ activity. Regarding the existence of some discrimination in the system of health, the present study was conducted to determine the relationship between the effort-reward imbalance and psychosocial health in nurses. In this descriptive cross-sectional study, 270 nurses working in five medical-educational centers in Tabriz participated through random-quota sampling. The research tool included a demographic questionnaire, Siegrist effort- reward imbalance questionnaire and Copenhagen Psychosocial questionnaire. Data were analyzed by SPSS V18 and descriptive and inferential statistics. In the present study, 54.8% of the patients were suffering from effort- reward imbalance model (occupational stress. The relatively high prevalence of this can be attributed to the conditions of the hospital's working environment. The results of this study showed a significant relationship between psychosocial health and balance of reward and effort in nurses and also the findings of the research showed a positive and significant relationship between mental and social health and the score of effort-reward imbalance model (0.95 = R, and P <0.05. There was a significant relationship between effort and work commitment and job burnout. Considering the stressful nature of the profession among many reasons, the mental health of nurses is at a higher risk than that of other groups in the society. Because some factors related to the imbalance in the effort and reward (stress is inevitable, it is necessary in the profession of nursing for managers to review their employees' position and characteristics to find out their staff’s attitudes and behaviors and direct them in the right path.

  3. Perceived work stress, imbalance between work and family/personal lives, and mental disorders.

    Science.gov (United States)

    Wang, Jian Li

    2006-07-01

    Occupational mental health research has been focusing on the relationship between work stress and depression. However, the impacts of work stress on anxiety disorders and of imbalance between work and family life on workers' mental health have not been well studied. This analysis investigated the association between levels of perceived work stress and of imbalance between work and family/personal lives and current mood/anxiety disorders. This was a cross-sectional study using data from the Canadian Community Health Survey-Mental Health and Well-being (CCHS-1.2) (n=36,984). Mood and anxiety disorders were measured using the World Mental Health-Composite International Diagnostic Interview. The 1-month prevalence of mood and anxiety disorders among those with a work stress score at the 75th percentile value and above was 3.6% and 4.0%. Among those who reported that their work and family/personal lives "never" balanced in the past month, the 1-month prevalence of mood and anxiety disorders was 21.2% and 17.9%. In multivariate analyses, work stress and imbalance between work and family/personal lives were independently associated with mood and anxiety disorders. There was no evidence that perceived work stress interacted with imbalance between work and family/personal lives to increase the likelihood of having mental disorders. Gender was associated with anxiety disorders, but not with major depressive disorder and mood disorders. Work stress and imbalance between work and family/personal lives may be part of the etiology of mood and anxiety disorders in the working population. Community based longitudinal studies are needed to delineate the causal relationships among work stress, imbalance between work and family/personal lives and mental disorders.

  4. Imbalances in the development of European currency integration: key issues and recent trends

    Directory of Open Access Journals (Sweden)

    Cornelia Sahling

    2017-12-01

    Full Text Available The recent financial and sovereign debt crises affected the Eurozone countries in different ways. The centre-periphery divide of the national economies exacerbated existing problems in the euro area. In this article an empirical analysis of the development of intra-European imbalances is provided. The analysis shows that the problem of internal imbalances remains unsolved. High unemployment and high public debt in Eurozone’s periphery reflects the internal imbalances. In some Northern countries the public debt ratios are becoming higher, too. Significant current account imbalances provide an important indicator of external imbalances. The co-existence of large current account surpluses in Germany and the Netherlands and deficits in Greece challenges the possibilities of deeper European integration. The provided analysis shows a reduction in external imbalances because of better performance of periphery current accounts. A real solution of European problems needs deeper macroeconomic policy cooperation between national authorities and European institutions. The article highlights the limits of European institutions in promoting common economic policy. It is necessary to boost competitiveness by coordinated structural reforms in the euro area; fiscal austerity policies are not enough to restore pre-crisis internal balance. For sustainable economic growth European investment projects should be implemented in the euro area. The recovery of national economies should be used to reduce the high public debt levels in both centre and periphery countries. In the absence of economic adjustment through the exchange rate in the euro area further improvement in European current accounts convergence is important for European economic integration.

  5. Determinants of Pre-Operative Shoulder Imbalance in Patients with Adolescent Idiopathic Scoliosis

    Directory of Open Access Journals (Sweden)

    Hassan Ghandhari

    2017-01-01

    Full Text Available Background Disfiguring complications of adolescent idiopathic scoliosis (AIS could significantly affect the patients’ satisfaction. In this regard, shoulder imbalance has recently received much attention in spite of its poorly understood challenge. Objectives While the majority of previous studies have attempted to explore preoperative determinants of postoperative shoulder imbalance, in this study we aimed to investigate the factors correlated with the preoperative shoulder imbalance. Methods A total of 72 AIS patients with no previous history of corrective surgery took part in this study. The study sample comprised 63 females and 9 males with the mean age of 15.72 ± 3.08 years, ranging from 11 to 26 years. Shoulder imbalance parameters including T1 tilt, first rib angle (FRA, and clavicle angle (CA were assessed and their correlation with radiographic characteristics of the curves and patients’ demographic data including age and sex was evaluated. Results T1 tilt was more severe in males (mean -8.2° than females (mean -2.8° (P = 0.04. Moreover, a significant correlation was found between age and FRA (P = 0.04. A significant correlation was also observed between main thoracic (MT curve size and all the three parameters of shoulder imbalance (P < 0.001. The reverse correlation of T5 - T12 kyphosis angle with FRA was also significant (P = 0.04. Conclusions According to our results, in AIS, pre-operative radiographic shoulder imbalance could be affected by some curve parameters including MT and kyphosis size and demographic characteristics of patients including age and gender.

  6. Estimating radiative feedbacks from stochastic fluctuations in surface temperature and energy imbalance

    Science.gov (United States)

    Proistosescu, C.; Donohoe, A.; Armour, K.; Roe, G.; Stuecker, M. F.; Bitz, C. M.

    2017-12-01

    Joint observations of global surface temperature and energy imbalance provide for a unique opportunity to empirically constrain radiative feedbacks. However, the satellite record of Earth's radiative imbalance is relatively short and dominated by stochastic fluctuations. Estimates of radiative feedbacks obtained by regressing energy imbalance against surface temperature depend strongly on sampling choices and on assumptions about whether the stochastic fluctuations are primarily forced by atmospheric or oceanic variability (e.g. Murphy and Forster 2010, Dessler 2011, Spencer and Braswell 2011, Forster 2016). We develop a framework around a stochastic energy balance model that allows us to parse the different contributions of atmospheric and oceanic forcing based on their differing impacts on the covariance structure - or lagged regression - of temperature and radiative imbalance. We validate the framework in a hierarchy of general circulation models: the impact of atmospheric forcing is examined in unforced control simulations of fixed sea-surface temperature and slab ocean model versions; the impact of oceanic forcing is examined in coupled simulations with prescribed ENSO variability. With the impact of atmospheric and oceanic forcing constrained, we are able to predict the relationship between temperature and radiative imbalance in a fully coupled control simulation, finding that both forcing sources are needed to explain the structure of the lagged-regression. We further model the dependence of feedback estimates on sampling interval by considering the effects of a finite equilibration time for the atmosphere, and issues of smoothing and aliasing. Finally, we develop a method to fit the stochastic model to the short timeseries of temperature and radiative imbalance by performing a Bayesian inference based on a modified version of the spectral Whittle likelihood. We are thus able to place realistic joint uncertainty estimates on both stochastic forcing and

  7. What is Driving Global Imbalances? The Global Savings Glut Hypothesis Reexamined

    Directory of Open Access Journals (Sweden)

    Jai-Won Ryou

    2009-12-01

    Full Text Available In the middle of the global financial crisis, global imbalances seem to have been resolved to some extent, but it remains to be seen whether these imbalances will emerge again along with economic recovery. In order to cope with this global issue, we need to clarify what caused global imbalances in the first place. This paper aims to evaluate the relative importance of the "global savings glut" to the U.S. external imbalances. Drawing on the portfolio balance model, we analyze how the process of interaction between the U.S. current account deficit, capital inflows, and the U.S. dollar exchange rate is linked to domestic and external factors. Our empirical analysis shows that the U.S. current account deficit maintained since the early 1990s is mainly driven by the domestic factors, such as a decrease in the U.S. national savings and an increase in money supply growth. The size of the negative effect of a "global savings glut" measured by an increase in the East Asian countries' national savings (i.e. China, Japan and Korea on the U.S. current account seems to be exaggerated. Meanwhile, current account does not appear to be sensitive to changes in the exchange rate. This finding implies that the rectification of global imbalances is hardly possible to achieve by means of depreciating the U.S. dollar alone while leaving the structural factors unchanged. In order to achieve global rebalancing, the U.S. should increase its savings rate, reduce fiscal deficit, and tighten its money supply. While an increase in the domestic demand in the surplus countries such as China and Japan may be helpful in rectifying global imbalances, it appears to be insufficient per se.

  8. Generation of charge imbalance in a superconductor by a temperature gradient

    International Nuclear Information System (INIS)

    Entin-Wohlman, O.; Orbach, R.

    1980-01-01

    The charge-imbalance voltage in a superconductor carrying a current in the presence of a temperature gradient is calculated from the Boltzmann equation in the clean limit. We demonstrate why the Green's-function approach in the dirty limit, first performed by Schmid and Schoem, generates the same Boltzmann-like equation for the distribution function. In addition, the charge-imbalance voltage in the absence of an impressed current is calculated. It is shown to depend on del 2 T+(delT) 2 /T, and not solely on (delT) 2 . The calculations are limited to the temperature regime near T/sub c/, such that Δ<< T

  9. The role of hormonal imbalance in the development of autoimmune dacryoadenitis in endocrine orbitopathy

    Directory of Open Access Journals (Sweden)

    V. G. Likhvantseva

    2014-07-01

    Full Text Available The authors analyzed the hormonal profile of patients with Graves’ disease and endocrine orbitopathy with or without autoimmune dacryoadenitis. Presented compelling evidence about the role of hormonal imbalance between thyreoglobulines and thyroidstimulating hormones in the development of autoimmune dacryoadenitis. The availability of this kind of imbalance increases the risk of involvement of lacrimal gland in the pathological process with 12.3 % up to 64.3 % in the population with Graves’ disease and endocrine orbitopathy.

  10. Widely Linear Equalization for IQ Imbalance and Skew Compensation in Optical Coherent Receivers

    DEFF Research Database (Denmark)

    Porto da Silva, Edson; Zibar, Darko

    2016-01-01

    In this paper, an alternative approach to design linear equalization algorithms for optical coherent receivers is introduced. Using widely linear complex analysis, a general analytical model it is shown, where In-phase/quadrature (IQ) imbalances and IQ skew at the coherent receiver front-end are ......In this paper, an alternative approach to design linear equalization algorithms for optical coherent receivers is introduced. Using widely linear complex analysis, a general analytical model it is shown, where In-phase/quadrature (IQ) imbalances and IQ skew at the coherent receiver front...

  11. Does correction of preoperative coronal imbalance make a difference in outcomes of adult patients with deformity?

    Science.gov (United States)

    Daubs, Michael D; Lenke, Lawrence G; Bridwell, Keith H; Kim, Yongjung J; Hung, Man; Cheh, Gene; Koester, Linda A

    2013-03-15

    Retrospective study with prospectively collected outcomes data. Determine the significance of coronal balance on spinal deformity surgery outcomes. Sagittal balance has been confirmed as an important radiographic parameter correlating with adult deformity treatment outcomes. The significance of coronal balance on functional outcomes is less clear. Eighty-five patients with more than 4 cm of coronal imbalance who underwent reconstructive spinal surgery were evaluated to determine the significance of coronal balance on functional outcomes as measured with the Oswestry Disability Index (ODI) and Scoliosis Research Society outcomes questionnaires. Sixty-two patients had combined coronal (>4 cm) and sagittal imbalance (>5 cm), while 23 patients had coronal imbalance alone. Postoperatively, 85% of patients demonstrated improved coronal balance. The mean improvement in the coronal C7 plumb line was 26 mm for a mean correction of 42%. The mean preoperative sagittal C7 plumb line in patients with combined coronal and sagittal imbalance was 118 mm (range, 50-310 mm) and improved to a mean 49 mm. The mean preoperative and postoperative ODI scores were 42 (range, 0-90) and 27 (range, 0-78), for a mean improvement of 15 (36%) (P = 0.00001; 95% CI, 12-20). The mean Scoliosis Research Society scores improved by 17 points (29%) (P = 0.00). Younger age (P = 0.008) and improvement in sagittal balance (P = 0.014) were positive predictors for improved ODI scores. Improvement in sagittal balance (P = 0.010) was a positive predictor for improved Scoliosis Research Society scores. In patients with combined coronal and sagittal imbalance, improvement in sagittal balance was the most significant predictor for improved ODI scores (P = 0.009). In patients with preoperative coronal imbalance alone, improvement in coronal balance trended toward, but was not a significant predictor for improved ODI (P = 0.092). Sagittal balance improvement is the strongest predictor of improved outcomes in

  12. Effort reward imbalance is associated with vagal withdrawal in Danish public sector employees

    DEFF Research Database (Denmark)

    Eller, Nanna Hurwitz; Blønd, Morten; Nielsen, Martin

    2011-01-01

    The current study analyzed the relationship between psychosocial work environment assessed by the Effort Reward Imbalance Model (ERI-model) and heart rate variability (HRV) measured at baseline and again, two years later, as this relationship is scarcely covered by the literature.......The current study analyzed the relationship between psychosocial work environment assessed by the Effort Reward Imbalance Model (ERI-model) and heart rate variability (HRV) measured at baseline and again, two years later, as this relationship is scarcely covered by the literature....

  13. Imbalance in resting state functional connectivity is associated with eating behaviors and adiposity in children

    Directory of Open Access Journals (Sweden)

    BettyAnn A. Chodkowski

    2016-01-01

    Conclusions: In the absence of any explicit eating-related stimuli, the developing brain is primed toward food approach and away from food avoidance behavior with increasing adiposity. Imbalance in resting state functional connectivity that is associated with non-homeostatic eating develops during childhood, as early as 8–13 years of age. Our results indicate the importance of identifying children at risk for obesity for earlier intervention. In addition to changing eating habits and physical activity, strategies that normalize neural functional connectivity imbalance are needed to maintain healthy weight. Mindfulness may be one such approach as it is associated with increased response inhibition and decreased impulsivity.

  14. Sensitive and reliable detection of genomic imbalances in human neuroblastomas using comparative genomic hybridisation analysis

    NARCIS (Netherlands)

    van Gele, M.; van Roy, N.; Jauch, A.; Laureys, G.; Benoit, Y.; Schelfhout, V.; de Potter, C. R.; Brock, P.; Uyttebroeck, A.; Sciot, R.; Schuuring, E.; Versteeg, R.; Speleman, F.

    1997-01-01

    Deletions of the short arm of chromosome 1, extra copies of chromosome 17q and MYCN amplification are the most frequently encountered genetic changes in neuroblastomas. Standard techniques for detection of one or more of these genetic changes are karyotyping, FISH analysis and LOH analysis by

  15. Chromatid Painting for Chromosomal Inversion Detection, Phase II

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose the continued development of a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and...

  16. Chromatid Painting for Chromosomal Inversion Detection, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and inversions) have profound genetic...

  17. Automatic Metaphase Finding by Inter-Chromosome Extrema Profile Analysis

    National Research Council Canada - National Science Library

    Vega-Alvarado, Leticia

    2001-01-01

    ...-level inter-chromosome coarseness features in microscopic images of metaphase spreads, and allows to quantity the texture of the cytological objects analysing the intensity profile between chromosome...

  18. Label Free Chromosome Translocation Detection with Silicon nanowires

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Andersen, Karsten Brandt; Frøhling, Kasper Bayer

    HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method is a Fluore......HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method...

  19. Reliability of a new method for measuring coronal trunk imbalance, the axis-line-angle technique.

    Science.gov (United States)

    Zhang, Rui-Fang; Liu, Kun; Wang, Xue; Liu, Qian; He, Jia-Wei; Wang, Xiang-Yang; Yan, Zhi-Han

    2015-12-01

    Accurate determination of the extent of trunk imbalance in the coronal plane plays a key role in an evaluation of patients with trunk imbalance, such as patients with adolescent idiopathic scoliosis. An established, widely used practice in evaluating trunk imbalance is to drop a plumb line from the C7 vertebra to a key reference axis, the central sacral vertical line (CSVL) in full-spine standing anterioposterior radiographs, and measuring the distance between them, the C7-CSVL. However, measuring the CSVL is subject to intraobserver differences, is error-prone, and is of poor reliability. Therefore, the development of a different way to measure trunk imbalance is needed. This study aimed to describe a new method to measure coronal trunk imbalance, the axis-line-angle technique (ALAT), which measures the angle at the intersection between the C7 plumb line and an axis line drawn from the vertebral centroid of the C7 to the middle of the superior border of the symphysis pubis, and to compare the reliability of the ALAT with that of the C7-CSVL. A prospective study at a university hospital was used. The patient sample consisted of sixty-nine consecutively enrolled men and women patients, aged 10-18 years, who had trunk imbalance defined as C7-CSVL longer than 20 mm on computed full-spine standing anterioposterior radiographs. Data were analyzed to determine the correlation between C7-CSVL and ALAT measurements and to determine intraobserver and interobserver reliabilities. Using a picture archiving and communication system, three radiologists independently evaluated trunk imbalance on the 69 computed radiographs by measuring the C7-CSVL and by measuring the angle determined by the ALAT. Data were analyzed to determine the correlations between the two measures of trunk imbalance, and to determine intraobserver and interobserver reliabilities of each of them. Overall results from the measurements by the C7-CSVL and the ALAT were significantly moderately correlated

  20. Structure of the human chromosome interaction network.

    Directory of Open Access Journals (Sweden)

    Sergio Sarnataro

    Full Text Available New Hi-C technologies have revealed that chromosomes have a complex network of spatial contacts in the cell nucleus of higher organisms, whose organisation is only partially understood. Here, we investigate the structure of such a network in human GM12878 cells, to derive a large scale picture of nuclear architecture. We find that the intensity of intra-chromosomal interactions is power-law distributed. Inter-chromosomal interactions are two orders of magnitude weaker and exponentially distributed, yet they are not randomly arranged along the genomic sequence. Intra-chromosomal contacts broadly occur between epigenomically homologous regions, whereas inter-chromosomal contacts are especially associated with regions rich in highly expressed genes. Overall, genomic contacts in the nucleus appear to be structured as a network of networks where a set of strongly individual chromosomal units, as envisaged in the 'chromosomal territory' scenario derived from microscopy, interact with each other via on average weaker, yet far from random and functionally important interactions.

  1. Chromosomal aberrations in benign prostatic hyperplasia patients

    Directory of Open Access Journals (Sweden)

    Muammer Altok

    2016-01-01

    Full Text Available Purpose: To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH. Materials and Methods: A total of 54 patients diagnosed with clinical BPH underwent transurethral prostate resection to address their primary urological problem. All patients were evaluated by use of a comprehensive medical history and rectal digital examination. The preoperative evaluation also included serum prostate-specific antigen (PSA measurement and ultrasonographic measurement of prostate volume. Prostate cancer was detected in one patient, who was then excluded from the study. We performed conventional cytogenetic analyses of short-term cultures of 53 peripheral blood samples obtained from the BPH patients. Results: The mean (±standard deviation age of the 53 patients was 67.8±9.4 years. The mean PSA value of the patients was 5.8±7.0 ng/mL. The mean prostate volume was 53.6±22.9 mL. Chromosomal abnormalities were noted in 5 of the 53 cases (9.4%. Loss of the Y chromosome was the most frequent chromosomal abnormality and was observed in three patients (5.7%. There was no statistically significant relationship among age, PSA, prostate volume, and chromosomal changes. Conclusions: Loss of the Y chromosome was the main chromosomal abnormality found in our study. However, this coexistence did not reach a significant level. Our study concluded that loss of the Y chromosome cannot be considered relevant for the diagnosis of BPH as it is for prostate cancer. Because BPH usually occurs in aging men, loss of the Y chromosome in BPH patients may instead be related to the aging process.

  2. Chromosome breakage in Vicia faba by ozone

    Energy Technology Data Exchange (ETDEWEB)

    Fetner, R H

    1958-02-15

    Meristem cells of Vicia faba roots were exposed to an atmosphere of ozone and the fraction of cells showing chromosome aberrations were recorded. Chromosome aberrations were observed on a dose-response basis after exposing the seeds to 0.4 wt. percent ozone for 15, 30, and 60 minutes. The results of ozone, x-rays, and ozone and x-ray treatments are presented. A small number of root tips from each group was treated with colchicine and an analysis made of metaphase aberrations. These observations confirmed that the aberrations were all of the chromosome-type.

  3. Genetic and chromosomal effects of ionizing radiation

    International Nuclear Information System (INIS)

    Anon.

    1981-01-01

    The genetic and chromosomal effects of ionizing radiations deal with those effects in the descendants of the individuals irradiated. The information base concerning genetic and chromosomal injury to humans from radiation is less adequate than is the information base for cancer and leukemia. As a result, it is not possible to make the kinds of quantitative estimates that have been made for carcinogenesis in previous chapters of this book. The chapter includes a detailed explanation of various types of genetic injuries such as chromosomal diseases, x-linked diseases, autosomal dominant diseases, recessive diseases, and irregularly inherited diseases. Quantitative estimates of mutation rates and incidences are given based on atomic bomb survivors data

  4. Chromosome mosaicism in hypomelanosis of Ito.

    Science.gov (United States)

    Ritter, C L; Steele, M W; Wenger, S L; Cohen, B A

    1990-01-01

    Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.

  5. The Barley Chromosome 5 Linkage Map

    DEFF Research Database (Denmark)

    Jensen, J.; Jørgensen, Jørgen Helms

    1975-01-01

    The distances between nine loci on barley chromosome 5 have been studied in five two-point tests, three three-point tests, and one four-point test. Our previous chromosome 5 linkage map, which contained eleven loci mapped from literature data (Jensen and Jørgensen 1975), is extended with four loci......-position is fixed on the map by a locus (necl), which has a good marker gene located centrally in the linkage group. The positions of the other loci are their distances in centimorgans from the 0-position; loci in the direction of the short chromosome arm are assigned positive values and those...

  6. Antibodies against chromosomal beta-lactamase

    DEFF Research Database (Denmark)

    Giwercman, B; Rasmussen, J W; Ciofu, Oana

    1994-01-01

    A murine monoclonal anti-chromosomal beta-lactamase antibody was developed and an immunoblotting technique was used to study the presence of serum and sputum antibodies against Pseudomonas aeruginosa chromosomal group 1 beta-lactamase in patients with cystic fibrosis (CF). The serum antibody...... 1 cephalosporinase. We found a wide range of chromosomal beta-lactamase activity in the sputum samples, with no correlation with basal or induced activity of beta-lactamase expression. The presence of anti-beta-lactamase antibodies in endobronchial sputum could be an important factor in the defense...

  7. Evaluation of electrolyte imbalance among tuberculosis patients receiving treatments in Southwestern Nigeria

    Directory of Open Access Journals (Sweden)

    Adebimpe Wasiu Olalekan

    2015-09-01

    Conclusion: Hyponatraemia, hyperkalaemia, and hypochloremia characterized some of the electrolyte imbalance among TB patients receiving treatments. The raised level of bicarbonate may be attributed to overcorrection of respiratory acidosis often found in patients with tuberculosis. Monitoring electrolytes is therefore an important component of TB management.

  8. SCOREBOARD AND THE POSSIBILITY OF EARLY STAGE IDENTIFICATION OF IMBALANCES IN THE EUROPEAN UNION

    Directory of Open Access Journals (Sweden)

    Marius, Gust

    2013-01-01

    Full Text Available In late 2011, the European Union (EU Council and European Parliament adopted a series of new rules on economic governance, perfecting the process begun in 2010 to strengthen the monitoring and prevention of macroeconomic imbalances, fiscal and competitiveness disparities among EU countries. In the same direction, of strengthening fiscal surveillance under the Stability and Growth Pact, also goes the Treaty on Stability, Coordination and Governance in the Economic and Monetary Union, through the fiscal Compact. Thus, the macroeconomic imbalances procedure provided in the new legislation requires as a first step the realization of a scoreboard consisting of 10 indicators, which, according to promoters, allow an early identification of imbalances, of both short-term, as well as structural, of longer-term. European Commission reports and statistics for EU Member States in 2010 and 2011, indicate that in the post-crisis period there has been a pronounced adjustment of external imbalances, but a number of countries continue to record higher values than indicative levels in the dashboard .

  9. Reverse knowledge and technology transfer: imbalances caused by cognitive barriers in asymmetric relationships

    NARCIS (Netherlands)

    Millar-Schijf, Carla C.J.M.; Choi, Chong-Ju

    2009-01-01

    An imbalance exists in almost any type of knowledge and technology transfer due to the information asymmetry of the relationship. However, this is especially the case for reverse technology and knowledge transfer which is epitomised for us by "transfers from an MNC's subsidiary to its headquarters".

  10. The validity and reliability of the Dutch Effort-Reward Imbalance Questionnaire

    NARCIS (Netherlands)

    Hanson, E. K.; Schaufeli, W.; Vrijkotte, T.; Plomp, N. H.; Godaert, G. L.

    2000-01-01

    The reliability and validity of the Effort-Reward Imbalance Questionnaire were tested in 775 blue- and white-collar workers in the Netherlands. Cronbach's alpha revealed sufficient internal consistency of all subscales except Need for Control. With exploratory probabilistic scaling (Mokken)

  11. Effort-Reward Imbalance for Learning Is Associated with Fatigue in School Children

    Science.gov (United States)

    Fukuda, Sanae; Yamano, Emi; Joudoi, Takako; Mizuno, Kei; Tanaka, Masaaki; Kawatani, Junko; Takano, Miyuki; Tomoda, Akemi; Imai-Matsumura, Kyoko; Miike, Teruhisa; Watanabe, Yasuyoshi

    2010-01-01

    We examined relationships among fatigue, sleep quality, and effort-reward imbalance for learning in school children. We developed an effort-reward for learning scale in school students and examined its reliability and validity. Self-administered surveys, including the effort reward for leaning scale and fatigue scale, were completed by 1,023…

  12. Transmembrane Potential Modeling: Comparison between Methods of Constant Electric Field and Ion Imbalance

    Czech Academy of Sciences Publication Activity Database

    Melcr, Josef; Bonhenry, Daniel; Timr, Štěpán; Jungwirth, Pavel

    2016-01-01

    Roč. 12, č. 5 (2016), s. 2418-2425 ISSN 1549-9618 R&D Projects: GA ČR(CZ) GBP208/12/G016 Institutional support: RVO:61388963 Keywords : membrane potential * molecular dynamics * ion imbalance Subject RIV: CF - Physical ; Theoretical Chemistry Impact factor: 5.245, year: 2016

  13. Socio-Cultural Imbalances in AIED Research: Investigations, Implications and Opportunities

    Science.gov (United States)

    Blanchard, Emmanuel G.

    2015-01-01

    This paper investigates international representations in the Artificial Intelligence in Education (AIED) research field. Its methodological and theoretical groundings are inspired by Arnett (2008) and Henrich et al. (2010a) who addressed the same issue in psychology, and respectively a) discovered massive imbalances in representation in top-tier…

  14. Short-term strategies for Dutch wind power producers to reduce imbalance costs

    International Nuclear Information System (INIS)

    Chaves-Ávila, José Pablo; Hakvoort, Rudi A.; Ramos, Andrés

    2013-01-01

    The paper assesses bidding strategies for a wind power producer in the Netherlands. To this end, a three-stage stochastic optimization framework is used, maximizing wind power producer's profit using the day-ahead and cross-border intraday market, taking into account available interconnection capacity. Results show that the wind power producer can increase its profits by trading on the intraday market and – under certain imbalance prices – by intentionally creating imbalances. It has been considered uncertainties about prices, power forecast and interconnection capacity at the day-ahead and intraday timeframes. - Highlights: ► A cross-border bidding strategy model for wind power producers has been developed. ► The model was applied to a real case study of a Dutch offshore wind power producer. ► Under certain imbalance prices, it is not profitable to deliver all possible power. ► Intraday markets give the possibility to reduce imbalance costs. ► Integration of intraday markets will increase liquidity.

  15. A low-complexity feed-forward I/Q imbalance compensation algorithm

    NARCIS (Netherlands)

    Moseley, N.A.; Slump, Cornelis H.

    2006-01-01

    This paper presents a low-complexity adaptive feed- forward I/Q imbalance compensation algorithm. The feed-forward so- lution has guaranteed stability. Due to its blind nature the algorithm is easily incorporated into an existing receiver design. The algorithm uses three estimators to obtain the

  16. Coping, social support, job satisfaction, and work/life imbalance / Mianda Smith

    OpenAIRE

    Smith, Mianda

    2006-01-01

    This mini dissertation focuses on the effects of coping on job satisfaction when job insecurity is being experienced by a group of managers in a South African mining company. The second part of the dissertation deals with role conflict, goal clarity, and how social support affects work/life imbalance. Thesis (M.Com. (Industrial Psychology))--North-West University, Potchefstroom Campus, 2007.

  17. The impact of effort-reward imbalance on quality of life among Japanese working men.

    Science.gov (United States)

    Watanabe, Mayumi; Tanaka, Katsutoshi; Aratake, Yutaka; Kato, Noritada; Sakata, Yumi

    2008-07-01

    Health-related quality of life (HRQL) is an important measure of health outcome in working and healthy populations. Here, we investigated the impact of effort-reward imbalance (ERI), a representative work-stress model, on HRQL of Japanese working men. The study targeted 1,096 employees from a manufacturing plant in Japan. To assess HRQL and ERI, participants were surveyed using the Japanese version of the Short-Form 8 Health Survey (SF-8) and effort-reward imbalance model. Of the 1,096 employees, 1,057 provided valid responses to the questionnaire. For physical summary scores, the adjusted effort-reward imbalance odds ratios of middle vs. bottom and top vs. bottom tertiles were 0.24 (95% confidence interval, 0.08-0.70) and 0.09 (95% confidence interval, 0.03-0.28), respectively. For mental summary scores, ratios were 0.21 (95% confidence interval, 0.07-0.63) and 0.07 (95% confidence interval, 0.02-0.25), respectively. These findings demonstrate that effort-reward imbalance is independently associated with HRQL among Japanese employees.

  18. Effort-Reward Imbalance and Overcommitment in UK Academics: Implications for Mental Health, Satisfaction and Retention

    Science.gov (United States)

    Kinman, Gail

    2016-01-01

    This study utilises the effort-reward imbalance (ERI) model of job stress to predict several indices of well-being in academics in the UK: mental ill health, job satisfaction and leaving intentions. This model posits that (a) employees who believe that their efforts are not counterbalanced by sufficient rewards will experience impaired well-being…

  19. Quasiparticle Lifetime in Ultracold Fermionic Mixtures with Density and Mass Imbalance

    DEFF Research Database (Denmark)

    Lan, Zhihao; Bruun, Georg; Lobo, Carlos

    2013-01-01

    We show that atomic Fermi mixtures with density and mass imbalance exhibit a rich diversity of scaling laws for the quasiparticle decay rate beyond the quadratic energy and temperature dependence of conventional Fermi liquids. For certain densities and mass ratios, the decay rate is linear, whereas...

  20. Widely Linear Blind Adaptive Equalization for Transmitter IQ-Imbalance/Skew Compensation in Multicarrier Systems

    DEFF Research Database (Denmark)

    Porto da Silva, Edson; Zibar, Darko

    2016-01-01

    Simple analytical widely linear complex-valued models for IQ-imbalance and IQ-skew effects in multicarrier transmitters are presented. To compensate for such effects, a 4×4 MIMO widely linear adaptive equalizer is proposed and experimentally validated....

  1. Effects of novel tubing gait on neuromuscular imbalance in cerebral palsy.

    Science.gov (United States)

    Shin, Yoon Kyum; Lee, Dong Ryul; Kim, Do Hyun; Lee, Jae Jin; You, Sung Joshua Hyun; Yi, Chung Hwi; Jeon, Hye Seon

    2014-01-01

    Gait impairments from a neuromuscular imbalance are crucial issues in cerebral palsy. The purpose of our study was to compare the effects of the assistive tubing gait (ATG) and assistive-resistive tubing gait (ARTG) on improving the vasti and hamstring muscle imbalance during the initial contact to mid-stance phases in individuals with spastic diplegic cerebral palsy (CP). Fourteen age-matched individuals including seven normal individuals (11.7 years) and seven individuals with CP (12.9 years) were recruited. All participants underwent electromyography (EMG) measurement of the unilateral vasti and hamstring muscle activity during the three gait training conditions of no-tubing gait (NTG), ATG, and ARTG. A statistical one-way repeated-measure analysis of variance (ANOVA) was used to determine differences in the vasti and hamstring activity, the vasti/hamstring ratio, and the knee joint angle across the three gait training conditions for each group. The initial vasti and hamstring muscle imbalance in CP was significantly improved by applying the ARTG compared with the ATG. The vasti/hamstring ratio during the ARTG was compatible with the ratio value obtained from the NTG of normal individuals. The knee joint angle in CP was not improved in this short-term intervention. The ARTG proportionately increased the vasti activation and reciprocally inhibited the hamstring activity, subsequently improving the neuromuscular imbalance associated with the flexed-knee gait in individuals with spastic diplegic CP.

  2. The price path due to order imbalances: evidence from the Amsterdam agricultural futures exchange.

    NARCIS (Netherlands)

    Pennings, J.M.E.; Kuiper, W.E.; Hofstede, ter F.; Meulenberg, M.T.G.

    1998-01-01

    The lack of sufficient market depth particularly in many newly initiated futures markets results in relatively high hedging costs, and this inhibits the growth of futures contract volume. In this article the price path due to order imbalances is analyzed and a two-dimensional market depth measure is

  3. Frequency Shift of a Rotating Mass-Imbalance Immersed in an Acoustic Fluid

    International Nuclear Information System (INIS)

    Stephen R. Novascone; David M. Weinberg; Michael J. Anderson

    2005-01-01

    In this paper, we describe a physical mechanism that relates a measurable behavior of a vibrating device to the physical properties of a surrounding acoustic medium. The vibrating device under consideration is a rotating imbalance immersed in an unbounded acoustic fluid. It is assumed that the rotating imbalance is driven by an electromagnetic motor excited by a given DC voltage. If nonlinearities are ignored, the steady state operational frequency of such a device is determined by a balance between the applied electromagnetic and opposing frictional torque on the rotating imbalance. If nonlinearities are retained, it is shown that under certain circumstances, the surrounding acoustic medium exerts an additional time-averaged opposing torque on the rotating imbalance that reduces the operational frequency of the device. Consequently, the operational frequency of the device becomes linked to the physical properties of the surrounding medium. Analytical calculations showed that the radiative resistance of an acoustic fluid caused the opposing torque. The shift in frequency is proportional to the radiative resistance and the square of the rotating eccentricity, but inversely proportional the total transducer mass and the damping effect of the DC motor

  4. Mental health among Norwegian priests: associations with effort-reward imbalance and overcommitment.

    Science.gov (United States)

    Lau, Bjørn

    2018-01-01

    The aim of the study was to determine the prevalence of anxiety and depression symptoms among Norwegian priests and to examine their associations with effort-reward imbalance (ERI) and overcommitment. Eight hundred four priests in the Norwegian Church completed the Hospital Anxiety and Depression Scale (HADS), the Effort-Reward Imbalance Questionnaire (ERI-Q), and the Intrinsic Effort Scale, measuring overcommitment. A significant proportion of the priests (23.4%) had HADS scores indicating a possible anxiety problem. Somewhat fewer had depression problems (9.3%). Both anxiety and depression difficulties were associated with an imbalance between effort given and rewards received at work. Priests characterized by a combination of this imbalance and high scores on overcommitment had more anxiety and depression symptoms. There is a higher occurrence of mental health challenges among priests than among the regular population. This applies in particular to anxiety symptoms measured by the HADS. These findings also indicate that it may be fruitful to explore mental health conditions among priests who report different combinations of effort-reward and overcommitment.

  5. Analysis of the impact of imbalance settlement design on market behaviour in electricity balancing markets

    NARCIS (Netherlands)

    Van der Veen, R.A.C.; Abbasy, A.; Hakvoort, R.A.

    2010-01-01

    The imbalance settlement design is the part of an electricity balancing market design that stimulates so-called Balance Responsible Parties (BRPs) to balance their electricity production and consumption portfolio and to stick to their energy schedules by penalizing any deviations from these

  6. Studies of generalized elemental imbalances in neurological disease patients using INAA [instrumental neutron activation analysis

    International Nuclear Information System (INIS)

    Ehmann, W.D.; Vance, D.E.; Khare, S.S.; Kasarskis, E.J.; Markesbery, W.R.

    1988-01-01

    Evidence has been presented in the literature to implicate trace elements in the etiology of several age-related neurological diseases. Most of these studies are based on brain analyses. Using instrumental neutron activation analysis (INAA), we have observed trace element imbalances in brains of patients with Alzheimer's disease, amyotrophic lateral sclerosis (ALS), and Picks's disease. The most prevalent elemental imbalances found in the brain were for bromine, mercury, and the alkali metals. In this study the authors report INAA studies of trace elements in nonneural tissues from Alzheimer's disease and ALS patients. Samples from household relatives were collected for use as controls wherever possible. Hair samples were washed according to the International Atomic Energy Agency recommended procedure. Fingernail samples were scraped with a quartz knife prior to washing by the same procedure. For ALS patients, blood samples were also collected. These data indicate that elemental imbalances in Alzheimer's disease and ALS are not restricted to the brain. Many elements perturbed in the brain are also altered in the several nonneural tissues examined to date. The imbalances in different tissues, however, are not always in the same direction. The changes observed may represent causes, effects, or simply epiphenomena. Longitudinal studies of nonneural tissues and blood, as well as tissue microprobe analyses at the cellular and subcellular level, will be required in order to better assess the role of trace elements in the etiology of these diseases

  7. An Enhanced Islanding Microgrid Reactive Power, Imbalance Power, and Harmonic Power Sharing Scheme

    DEFF Research Database (Denmark)

    He, Jinwei; Lin, Yun Wei; Blaabjerg, Frede

    2015-01-01

    To address inaccurate power sharing problems in autonomous islanding microgrids, an enhanced droop control method through online virtual impedance adjustment is proposed. First, a term associated with DG reactive power, imbalance power, or harmonic power is added to the conventional real power...

  8. Analysis of genomic imbalances and gene expression changes in transformed follicular lymphoma (FL)

    DEFF Research Database (Denmark)

    Obel, G.; Farinha, P.; Lam, W.

    2005-01-01

    American patients with transformed FL. Methods: High-resolution BAC-array comparative genomic hybridisation (CGH) was used to detect genomic imbalances. Gene expression profiling was performed using cDNA microarrays (Affymetrix). Results: Of 9 biopsy pairs identified so far, analysis results of the first 4...

  9. Ocean heat content and Earth's radiation imbalance. II. Relation to climate shifts

    International Nuclear Information System (INIS)

    Douglass, D.H.; Knox, R.S.

    2012-01-01

    In an earlier study of ocean heat content (OHC) we showed that Earth's empirically implied radiation imbalance has undergone abrupt changes. Other studies have identified additional such climate shifts since 1950. The shifts can be correlated with features in recently updated OHC data. The implied radiation imbalance may possibly alternate in sign at dates close to the climate shifts. The most recent shifts occurred during 2001–2002 and 2008–2009. The implied radiation imbalance between these dates, in the direction of ocean heat loss, was −0.03±0.06 W/m 2 , with a possible systematic error of [−0.00,+0.09] W/m 2 . -- Highlights: ► Ocean heat content (OHC) slope discontinuities match similar Earth climate features. ► OHC slopes between climate shifts give most of the implied radiation balance (IRI). ► IRI often alternates in sign at dates close to the climate shifts. ► IRI between climate shifts of 2001–2002 and 2008–2009 was −0.03±0.06 W/m 2 . ► Geothermal flux is relevant to analyses of radiation imbalance.

  10. Repetition and Power Imbalance in Bullying Victimization at School. Data Point. NCES 2018-093

    Science.gov (United States)

    Lessne, Deborah; Yanez, Christine

    2018-01-01

    For the 2014-2015 school year, 20.8 percent of students reported being bullied at school. This report examines these students' experiences of bullying by repetition and power imbalance, two components of the Center for Disease Control and Prevention's (CDC) uniform definition of bullying. The report reviews the association of these components with…

  11. Neurohormonal Imbalance: A Neglected Problem-And Potential Therapeutic Target-In Acute Heart Failure.

    Science.gov (United States)

    Goldsmith, Steven R; Bart, Bradley A; Pin A, Ileana L

    2017-12-16

    Decompensated or acute heart failure (AHF) is characterized by increased ventricular and atrial pressures which may lead to and be caused by circulatory congestion. Unless due to a primary decrease in cardiac function, congestion arises from volume expansion or vasoconstriction. In turn, volume expansion and vasoconstriction are due to neurohormonal imbalance since both result from activation of the sympathetic nervous system, the renin-angiotensin-aldosterone axis and excess secretion of arginine vasopressin. Outcomes in AHF remain dismal. Loop diuretics are the mainstay of therapy for AHF and may themselves aggravate neurohormonal imbalance. No adjunctive pharmacotherapy has yielded improvement in outcomes in AHF despite many attempts with various vasodilators and inotropes. We, therefore, propose that insufficient attention has been paid to neurohormonal imbalance in AHF. As in chronic HF, rectifying the effects of neurohormonal imbalance may lead to better outcomes. The use of alternative decongestive strategies or adjunctive pharmacotherapy directed at neurohormonal activation could yield benefit. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Notch1 Signaling Regulates the Th17/Treg Immune Imbalance in Patients with Psoriasis Vulgaris.

    Science.gov (United States)

    Ma, Lei; Xue, HaiBo; Gao, Tianqin; Gao, MeiLan; Zhang, YuJie

    2018-01-01

    To evaluate the regulating effect of Notch1 signaling on Th17/Treg immune imbalance in psoriasis vulgaris (PV). Notch1, Hes-1, ROR γ t, Foxp3, IL-17, and IL-10 mRNA expression, as well as Th17 and Treg cell percentages in peripheral CD4 + T cells, were detected by real-time quantitative RT-PCR and flow cytometry, and serum concentrations of IL-17 and IL-10 were detected by ELISA in 36 PV patients and 32 healthy controls. Additionally, CD4 + T cells from 12 PV patients were treated with γ -secretase inhibitor DAPT, and the above indexes were measured. PV patients presented distinct Th17/Treg immune imbalance and highly expressed Notch1 and Hes-1 mRNA levels, which were positively correlated with psoriasis area and severity index (PASI) and the ratios of Th17/Treg and ROR γ t/Foxp3. DAPT treatment resulted in the obvious downregulation of Th17 cell percentage in cocultured CD4 + T cells, ROR γ t and IL-17 mRNA levels, and IL-17 concentration in cell-free supernatant from cocultured CD4 + T cells of PV patients in a dose-dependent manner, while there was no significant influence on Treg cell percentage, Foxp3, and IL-10 expression, therefore leading to the recovery of Th17/Treg immune imbalance. Notch1 signaling may contribute to the pathogenesis of PV by regulating Th17/Treg immune imbalance.

  13. Effects of interaction imbalance in a strongly repulsive one-dimensional Bose gas

    DEFF Research Database (Denmark)

    Barfknecht, Rafael Emilio; Zinner, Nikolaj Thomas; Foerster, Angela

    2018-01-01

    We calculate the spatial distributions and the dynamics of a few-body two-component strongly interacting Bose gas confined to an effectively one-dimensional trapping potential. We describe the densities for each component in the trap for different interaction and population imbalances. We calculate...

  14. Charge imbalance waves and nonequilibrium dynamics near a superconducting phase-slip center

    International Nuclear Information System (INIS)

    Kadin, A.M.; Smith, L.N.; Skocpol, W.J.

    1980-01-01

    Using a generalized two-fluid picture to describe a quasi-one-dimensional superconductor near T/sub c/, we provide a heuristic derivation for a set of equations governing the temporal and spatial evolution of the charge imbalance (or branch imbalance) in the quasiparticles. We show that these equations are isomorphic to those that describe a simple electrical transmission line, so that charge imbalance waves may propagate in the superconductor in analogy with electrical signals that propagate down the transmission line. We propose as a model for a phase-slip center in a superconducting filament a localized Josephson oscillator coupled to the transmission line. Applying standard transmission-line theory to solve the problem, we show that the Josephson oscillations in the center generate charge imbalance waves that the propagate out to a frequency-dependent distance of the order of the quasiparticle diffusion length GAMMA/sub Q/*= (Dtau/sub Q/*)/sup 1/2/ before they damp out. The time-averaged behavior of the model reduces to the earlier model of Skocpol, Beasley, and Tinkham. A novel consequence of the model is a prediction of intrinsic hysteresis in the dc current--voltage relation. The model also provides a convenient framework for dealing with ac effects in phase-slip centers, including resonance and synchronization in systems of closely spaced phase-slip centers and microbridges

  15. Studies of trace element imbalances in Alzheimer's disease using sequential NAA

    International Nuclear Information System (INIS)

    Ehmann, W.D.; Markesbery, W.R.; Thompson, C.M.; Vance, D.E.; Mao, Y.

    1986-01-01

    Evidence has accumulated in the literature that trace elements may be implicated in the etiology of Alzheimer's disease (AD) and other age-related neurological diseases. Even if elemental imbalances do not prove to be causative factors, observed perturbations may be markers that could aid in diagnosis, or help elucidate pathological processes. In this paper the authors present new data for trace element levels in three areas of the human brain most severely affected by AD (hippocampus, amygdala, and nucleus basalis) and in AD hair and nail samples. In some cases the specific imbalances seen previously in the bulk brain analyses are amplified in these regions. Elevated bromine levels seen in AD brain are also observed in AD hair and nail. Significant alkali metal and mercury imbalances with respect to controls occur in AD nail samples. The role of these trace element alterations in the etiology of AD has still not been determined. However, some possible physiological effects include: membrane dysfunction (alkali metals), enzyme inhibition (mercury and bromine), and interference with neurotransmitter functions (mercury, bromine, and alkali metals). The simultaneous multielement capability of this sequential NAA procedure also permits interelement correlation studies. Elemental associations may help identify potential environmental factors that could contribute to the observed trace element imbalances

  16. Love and fear of heights: the pathophysiology and psychology of height imbalance.

    Science.gov (United States)

    Salassa, John R; Zapala, David A

    2009-01-01

    Individual psychological responses to heights vary on a continuum from acrophobia to height intolerance, height tolerance, and height enjoyment. This paper reviews the English literature and summarizes the physiologic and psychological factors that generate different responses to heights while standing still in a static or motionless environment. Perceptual cues to height arise from vision. Normal postural sway of 2 cm for peripheral objects within 3 m increases as eye-object distance increases. Postural sway >10 cm can result in a fall. A minimum of 20 minutes of peripheral retinal arc is required to detect motion. Trigonometry dictates that a 20-minute peripheral retinal arch can no longer be achieved in a standing position at an eye-object distance of >20 m. At this distance, visual cues conflict with somatosensory and vestibular inputs, resulting in variable degrees of imbalance. Co-occurring deficits in the visual, vestibular, and somatosensory systems can significantly increase height imbalance. An individual's psychological makeup, influenced by learned and genetic factors, can influence reactions to height imbalance. Enhancing peripheral vision and vestibular, proprioceptive, and haptic functions may improve height imbalance. Psychotherapy may improve the troubling subjective sensations to heights.

  17. Economic concepts to address future water supply-demand imbalances in Iran, Morocco and Saudi Arabia

    NARCIS (Netherlands)

    Hellegers, P.J.G.J.; Immerzeel, W.; Droogers, P.

    2013-01-01

    In Middle East and North Africa (MENA) countries, renewable groundwater and surface water supply are limited while demand for water is growing rapidly. Climate change is expected to increase water demand even further. The main aim of this paper is to evaluate the water supply–demand imbalances in

  18. A Novel DBC Layout for Current Imbalance Mitigation in SiC MOSFET Multichip Power Modules

    DEFF Research Database (Denmark)

    Li, Helong; Munk-Nielsen, Stig; Beczkowski, Szymon

    2016-01-01

    This letter proposes a novel direct bonded copper (DBC) layout for mitigating the current imbalance among the paralleled SiC MOSFET dies in multichip power modules. Compared to the traditional layout, the proposed DBC layout significantly reduces the circuit mismatch and current coupling effect...

  19. An accurate autonomous islanding microgrid reactive power, imbalance power and harmonic power sharing scheme

    DEFF Research Database (Denmark)

    He, Jinwei; Li, Yun Wei; Blaabjerg, Frede

    2013-01-01

    To address inaccurate power sharing problems in autonomous islanding microgrids, an enhanced droop control method through adaptive virtual impedance adjustment is proposed. First, a term associated with DG reactive power, imbalance power or harmonic power is added to the conventional real power...

  20. The impact of effort-reward imbalance and learning motivation on teachers' sickness absence.

    Science.gov (United States)

    Derycke, Hanne; Vlerick, Peter; Van de Ven, Bart; Rots, Isabel; Clays, Els

    2013-02-01

    The aim of this study was to analyse the impact of the effort-reward imbalance and learning motivation on sickness absence duration and sickness absence frequency among beginning teachers in Flanders (Belgium). A total of 603 teachers, who recently graduated, participated in this study. Effort-reward imbalance and learning motivation were assessed by means of self-administered questionnaires. Prospective data of registered sickness absence during 12 months follow-up were collected. Multivariate logistic regression analyses were performed. An imbalance between high efforts and low rewards (extrinsic hypothesis) was associated with longer sickness absence duration and more frequent absences. A low level of learning motivation (intrinsic hypothesis) was not associated with longer sickness absence duration but was significantly positively associated with sickness absence frequency. No significant results were obtained for the interaction hypothesis between imbalance and learning motivation. Further research is needed to deepen our understanding of the impact of psychosocial work conditions and personal resources on both sickness absence duration and frequency. Specifically, attention could be given to optimizing or reducing efforts spent at work, increasing rewards and stimulating learning motivation to influence sickness absence. Copyright © 2012 John Wiley & Sons, Ltd.

  1. Reviewing the effort-reward imbalance model: drawing up the balance of 45 empirical studies

    NARCIS (Netherlands)

    Vegchel, van N.; Jonge, de J.; Bosma, H.; Schaufeli, W.B.

    2005-01-01

    The present paper provides a review of 45 studies on the Effort–Reward Imbalance (ERI) Model published from 1986 to 2003 (inclusive). In 1986, the ERI Model was introduced by Siegrist et al. (Biological and Psychological Factors in Cardiovascular Disease, Springer, Berlin, 1986, pp. 104–126; Social

  2. Relationship between effort-reward imbalance and hair cortisol concentration in female kindergarten teachers

    NARCIS (Netherlands)

    Qi, Xingliang; Zhang, Jing; Liu, Yapeng; Ji, Shuang; Chen, Zheng; Sluiter, Judith K.; Deng, Huihua

    2014-01-01

    The present study aims to investigate the relationship between effort-reward imbalance and hair cortisol concentration among teachers to examine whether hair cortisol can be a biomarker of chronic work stress. Hair samples were collected from 39 female teachers from three kindergartens. Cortisol was

  3. Beyond excitation/inhibition imbalance in multidimensional models of neural circuit changes in brain disorders.

    Science.gov (United States)

    O'Donnell, Cian; Gonçalves, J Tiago; Portera-Cailliau, Carlos; Sejnowski, Terrence J

    2017-10-11

    A leading theory holds that neurodevelopmental brain disorders arise from imbalances in excitatory and inhibitory (E/I) brain circuitry. However, it is unclear whether this one-dimensional model is rich enough to capture the multiple neural circuit alterations underlying brain disorders. Here, we combined computational simulations with analysis of in vivo two-photon Ca 2+ imaging data from somatosensory cortex of Fmr1 knock-out (KO) mice, a model of Fragile-X Syndrome, to test the E/I imbalance theory. We found that: (1) The E/I imbalance model cannot account for joint alterations in the observed neural firing rates and correlations; (2) Neural circuit function is vastly more sensitive to changes in some cellular components over others; (3) The direction of circuit alterations in Fmr1 KO mice changes across development. These findings suggest that the basic E/I imbalance model should be updated to higher dimensional models that can better capture the multidimensional computational functions of neural circuits.

  4. The Relationship between the (In-)Stability of NORs and Their Chromosomal Location: The Example of Cercopithecidae and a Short Review of Other Primates.

    Science.gov (United States)

    Gerbault-Seureau, Michèle; Cacheux, Lauriane; Dutrillaux, Bernard

    2017-01-01

    Amongst Cercopithecidae, the species of the Cercopithecini tribe underwent a very active chromosome evolution, principally by fissions, which increased their chromosome number up to 72. In contrast, all the species of Papionini have fairly similar karyotypes with 42 chromosomes. In animals, nucleolus organizer regions (NORs) are generally considered as instable structures, which frequently vary in size, number, and location at both infra- and interspecific levels. Although in Cercopithecinae the NORs, involved in breaks, exchanges, and translocations, behave like fragile sites in somatic cells, their number and location appear to be very stable between species. Fluorescence in situ hybridization of a 28S rDNA probe on metaphase chromosomes displayed a unique interstitial location in either an acrocentric pair (in 12 species of Cercopithecini) or a metacentric pair (in 6 species of Papionini). A non-exhaustive survey of literature data on NOR location in other primates shows that numerical variations of the NORs principally depend on their location: most multiple NORs are in terminal positions, while almost all unique NORs are in interstitial positions. We propose that this correlation is the consequence of the selection against gametic imbalances involving the chromosomal material distal to the NORs, which is effective when they are interstitially, but not terminally, located. Thus, the consequences of the interstitial NOR instability for reproduction are essentially limited to their size variations, as observed in Cercopithecidae. © 2018 S. Karger AG, Basel.

  5. HIM-8 binds to the X chromosome pairing center and mediates chromosome-specific meiotic synapsis.

    Science.gov (United States)

    Phillips, Carolyn M; Wong, Chihunt; Bhalla, Needhi; Carlton, Peter M; Weiser, Pinky; Meneely, Philip M; Dernburg, Abby F

    2005-12-16

    The him-8 gene is essential for proper meiotic segregation of the X chromosomes in C. elegans. Here we show that loss of him-8 function causes profound X chromosome-specific defects in homolog pairing and synapsis. him-8 encodes a C2H2 zinc-finger protein that is expressed during meiosis and concentrates at a site on the X chromosome known as the meiotic pairing center (PC). A role for HIM-8 in PC function is supported by genetic interactions between PC lesions and him-8 mutations. HIM-8 bound chromosome sites associate with the nuclear envelope (NE) throughout meiotic prophase. Surprisingly, a point mutation in him-8 that retains both chromosome binding and NE localization fails to stabilize pairing or promote synapsis. These observations indicate that stabilization of homolog pairing is an active process in which the tethering of chromosome sites to the NE may be necessary but is not sufficient.

  6. HIM-8 binds to the X chromosome pairing center and mediates chromosome-specific meiotic synapsis

    International Nuclear Information System (INIS)

    Phillips, Carolyn M.; Wong, Chihunt; Bhalla, Needhi; Carlton, Peter M.; Weiser, Pinky; Meneely, Philip M.; Dernburg, Abby F.

    2005-01-01

    The him-8 gene is essential for proper meiotic segregation of the X chromosomes in C. elegans. Here we show that loss of him-8 function causes profound X-chromosome-specific defects in homolog pairing and synapsis.him-8 encodes a C2H2 zinc finger protein that is expressed during meiosis and concentrates at a site on the X chromosome known as themeiotic Pairing Center (PC). A role for HIM-8 in PC function is supported by genetic interactions between PC lesions and him-8 mutations. HIM-8-bound chromosome sites associate with the nuclear envelope (NE)throughout meiotic prophase. Surprisingly, a point mutation in him-8 that retains both chromosome binding and NE localization fails to stabilize pairing or promote synapsis. These observations indicate that stabilization of homolog pairing is an active process in which the tethering of chromosome sites to the NE may be necessary but is not sufficient

  7. Examining Longitudinal Relationship among Effort Reward Imbalance, Coping Strategies and Academic Burnout in Korean Middle School Students

    Science.gov (United States)

    Kim, Boyoung; Kim, Eunjoo; Lee, Sang Min

    2017-01-01

    The present study examined the longitudinal relationship between effort-reward imbalance as a stressor and academic burnout as a strain. The study also examined the moderation effect of coping strategies, a problem-focused coping and an emotion-focused coping, in the relationship between effort-reward imbalance as a stressor and middle school…

  8. Optimizing imbalance and loss in 2 x 2 3dB multimode interference couplers via access waveguide width

    NARCIS (Netherlands)

    Hill, M.T.; Leijtens, X.J.M.; Khoe, G.D.; Smit, M.K.

    2003-01-01

    The imbalance and excess loss in multimode interference couplers with fabrication errors are examined. Remarkably, there exists a number of optimum access waveguide widths which give a minimum imbalance. Furthermore, quite low excess loss can be simultaneously achieved by choosing one particular

  9. Drug-induced premature chromosome condensation (PCC) protocols: cytogenetic approaches in mitotic chromosome and interphase chromatin.

    Science.gov (United States)

    Gotoh, Eisuke

    2015-01-01

    Chromosome analysis is a fundamental technique which is used in wide areas of cytogenetic study including karyotyping species, hereditary diseases diagnosis, or chromosome biology study. Chromosomes are usually prepared from mitotic cells arrested by colcemid block protocol. However, obtaining mitotic chromosomes is often hampered under several circumstances. As a result, cytogenetic analysis will be sometimes difficult or even impossible in such cases. Premature chromosome condensation (PCC) (see Note 1) is an alternative method that has proved to be a unique and useful way in chromosome analysis. Former, PCC has been achieved following cell fusion method (cell-fusion PCC) mediated either by fusogenic viruses (e.g., Sendai virus) or cell fusion chemicals (e.g., polyethylene glycol), but the cell fusion PCC has several drawbacks. The novel drug-induced PCC using protein phosphatase inhibitors was introduced about 20 years ago. This method is much simpler and easier even than the conventional mitotic chromosome preparation protocol use with colcemid block and furthermore obtained PCC index (equivalent to mitotic index for metaphase chromosome) is usually much higher than colcemid block method. Moreover, this method allows the interphase chromatin to be condensed to visualize like mitotic chromosomes. Therefore drug-induced PCC has opened the way for chromosome analysis not only in metaphase chromosomes but also in interphase chromatin. The drug-induced PCC has thus proven the usefulness in cytogenetics and other cell biology fields. For this second edition version, updated modifications/changes are supplemented in Subheadings 2, 3, and 4, and a new section describing the application of PCC in chromosome science fields is added with citation of updated references.

  10. Why Do Sex Chromosomes Stop Recombining?

    Science.gov (United States)

    Ponnikas, Suvi; Sigeman, Hanna; Abbott, Jessica K; Hansson, Bengt

    2018-04-28

    It is commonly assumed that sex chromosomes evolve recombination suppression because selection favours linkage between sex-determining and sexually antagonistic genes. However, although the role of sexual antagonism during sex chromosome evolution has attained strong support from theory, experimental and observational evidence is rare or equivocal. Here, we highlight alternative, often neglected, hypotheses for recombination suppression on sex chromosomes, which invoke meiotic drive, heterozygote advantage, and genetic drift, respectively. We contrast the hypotheses, the situations when they are likely to be of importance, and outline why it is surprisingly difficult to test them. Lastly, we discuss future research directions (including modelling, population genomics, comparative approaches, and experiments) to disentangle the different hypotheses of sex chromosome evolution. Copyright © 2018 Elsevier Ltd. All rights reserved.

  11. Human oocyte chromosome analyses need a standardized ...

    Indian Academy of Sciences (India)

    Studies of DNA polymorphisms in human trisomic abor- tions and liveborn have ... Keywords. human oocyte chromosomes; cytogenetic analysis; aneuploidy; nondisjunction; predivision. Journal of .... oocytes and giant embryos. Hum. Reprod.

  12. Conservation of sex chromosomes in lacertid lizards

    Czech Academy of Sciences Publication Activity Database

    Rovatsos, M.; Vukič, J.; Altmanová, M.; Johnson Pokorná, Martina; Moravec, J.; Kratochvíl, L.

    2016-01-01

    Roč. 25, č. 13 (2016), s. 3120-3126 ISSN 0962-1083 Institutional support: RVO:67985904 Keywords : lizards * molecular sex ing * reptiles * sex chromosomes Subject RIV: EG - Zoology Impact factor: 6.086, year: 2016

  13. Micro-Raman spectroscopy of chromosomes

    NARCIS (Netherlands)

    de Mul, F.F.M.; van Welle, A.G.M.; Otto, Cornelis; Greve, Jan

    1984-01-01

    Raman spectra of intact chromosomes (Chinese hamster), recorded with a microspectrometer, are reported. The spectra could be assigned to protein and DNA contributions. Protein and DNA conformations and the ratio of base pairs in DNA were determined.

  14. Partial Duplication of Chromosome 8p

    African Journals Online (AJOL)

    rme

    The partial chromosome 8p duplication is a rare syndrome and is ... abnormality of maternal origin that ... second trimester by vaginal bleeding and ... echocardiography, brain CT scan and. MRI. Fig. 1:Conventional karyotype of case 3 showing.

  15. Chromosomal contact permits transcription between coregulated genes

    CSIR Research Space (South Africa)

    Fanucchi, Stephanie

    2013-10-01

    Full Text Available . To ask whether chromosomal contacts are required for cotranscription in multigene complexes, we devised a strategy using TALENs to cleave and disrupt gene loops in a well-characterized multigene complex. Monitoring this disruption using RNA FISH...

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

    African Journals Online (AJOL)

    2014-03-01

    Mar 1, 2014 ... Infections, genetic, endocrine, anatomic and immunologic problems have been suggested as causes for RM. ... Metaphase chromosome preparations from the .... The rate of karyotypically abnormal abortion specimens.

  17. Histone modifications: Cycling with chromosomal replication

    DEFF Research Database (Denmark)

    Thon, Genevieve

    2008-01-01

    Histone modifications tend to be lost during chromosome duplication. Several recent studies suggest that the RNA interference pathway becomes active during the weakened transcriptional repression occurring at centromeres in S phase, resulting in the re-establishment of histone modifications...

  18. Complement activation in chromosome 13 dementias

    DEFF Research Database (Denmark)

    Rostagno, A.; Revesz, T.; Lashley, T.

    2002-01-01

    Chromosome 13 dementias, familial British dementia (FBD) and familial Danish dementia (FDD), are associated with neurodegeneration and cerebrovascular amyloidosis, with striking neuropathological similarities to Alzheimer's disease (AD). Despite the structural differences among the amyloid subunits...

  19. Non-disjunction of chromosome 13

    DEFF Research Database (Denmark)

    Bugge, Merete; Collins, Andrew; Hertz, Jens Michael

    2007-01-01

    We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII...... recombination in both maternal MI and MII errors and the former is associated with a significant number of tetrads (33%) that are nullichiasmate, which do not appear to be a feature of normal chromosome 13 meiosis. This study supports the evidence for subtle chromosome-specific influences on the mechanisms...... that determine non-disjunction of human chromosomes, consistent with the diversity of findings for other trisomies. Udgivelsesdato: 2007-Aug-15...

  20. System for the analysis of plant chromosomes

    International Nuclear Information System (INIS)

    Medina Martin, D.; Peraza Gonzalez, L.H.

    1996-01-01

    The paper describes a computer system for the automation workers of recognition analysis and interpretation of plant chromosomes. This system permit to carry out the analysis in a more comfortable and faster way, using the image processing techniques

  1. Sex chromosomes and speciation in Drosophila

    Science.gov (United States)

    Presgraves, Daven C.

    2010-01-01

    Two empirical rules suggest that sex chromosomes play a special role in speciation. The first is Haldane's rule— the preferential sterility and inviability of species hybrids of the heterogametic (XY) sex. The second is the disproportionately large effect of the X chromosome in genetic analyses of hybrid sterility. Whereas the causes of Haldane's rule are well established, the causes of the ‘large X-effect’ have remained controversial. New genetic analyses in Drosophila confirm that the X is a hotspot for hybrid male sterility factors, providing a proximate explanation for the large X-effect. Several other new findings— on faster X evolution, X chromosome meiotic drive, and the regulation of the X chromosome in the male-germline— provide plausible evolutionary explanations for the large X-effect. PMID:18514967

  2. Errata :Chromosomal Abnormalities in Couples with Recurrent ...

    African Journals Online (AJOL)

    Chromosomal Abnormalities in Couples with Recurrent Abortions in Lagos, Nigeria. Akinde OR, Daramola A O, Taiwo I A, Afolayan M O and Akinsola Af. Sonographic Mammary Gland Density Pattern in Women in Selected ommunities of Southern Nigeria.

  3. A new hybrid observer based rotor imbalance vibration control via passive autobalancer and active bearing actuation

    Science.gov (United States)

    Jung, DaeYi; DeSmidt, Hans

    2018-02-01

    Many researchers have explored the use of active bearings, such as non-contact Active Magnetic Bearings (AMB), to control imbalance vibration in rotor systems. Meanwhile, the advantages of a passive Auto-balancer device (ABD) eliminating the imbalance effect of rotor without using other active means have been recently studied. This paper develops a new hybrid imbalance vibration control approach for an ABD-rotor system supported by a normal passive bearing in augmented with an AMB to enhance the balancing and vibration isolation capabilities. Essentially, an ABD consists of several freely moving eccentric balancing masses mounted on the rotor, which, at supercritical operating speeds, act to cancel the rotor's imbalance at steady-state. However, due to the inherent nonlinearity of the ABD, the potential for other, non-synchronous limit-cycle behavior exists resulting in increased rotor vibration. To address this, the algorithm of proposed hybrid control is designed to guarantee globally asymptotic stability of the synchronous balanced condition. This algorithm also incorporates with a "Luenberger-like" observer that continuously estimates the states of a balancer ball circulating around within ABD. In particular, it is shown that the balanced equilibrium can be made globally attractive under the hybrid control strategy, and that the control power levels of AMB are significantly reduced via the addition of the ABD because the control is designed such that it is only switched on for the abnormal operation of ABD and will be disengaged otherwise. Moreover, unlike other imbalance vibration control applications based upon ABD such as rotor speed regulator [21,22], this approach enables the controller to achieve the desirable performance without altering rotor speed once the rotor initially reaches the target speed. These applications are relevant to limited power applications such as in satellite reaction wheels, flywheel energy storage batteries or CD-ROM application.

  4. Procoagulant imbalance in patients with non-alcoholic fatty liver disease.

    Science.gov (United States)

    Tripodi, Armando; Fracanzani, Anna L; Primignani, Massimo; Chantarangkul, Veena; Clerici, Marigrazia; Mannucci, Pier Mannuccio; Peyvandi, Flora; Bertelli, Cristina; Valenti, Luca; Fargion, Silvia

    2014-07-01

    Non-alcoholic fatty liver disease (NAFLD) is characterized by increased risk of cardiovascular events and liver-fibrosis. Both could be explained by a procoagulant-imbalance that was surmised but never directly demonstrated. We investigated 113 patients with varying histological liver damage [steatosis (n=32), steatohepatitis (n=51), metabolic-cirrhosis (n=30)], 54 with alcoholic/viral-cirrhosis and 179 controls. Plasma was evaluated for levels of pro- and anti-coagulants, and for thrombin-generation assessed as endogenous-thrombin-potential (ETP) with and without thrombomodulin or Protac® as protein C activators. The procoagulant-imbalance was defined as ETP-ratio (with-to-without thrombomodulin) or as Protac®-induced-coagulation-inhibition (PICI%). High ETP-ratios or low PICI% indicate resistance to thrombomodulin or Protac® and hence a procoagulant-imbalance. ETP-ratio increased from controls [0.57 (0.11-0.89)] to steatosis [0.72 (0.33-0.86)] and metabolic-cirrhosis [0.80 (0.57-0.95)], (pimbalance detected as ETP-ratio greater or PICI% lower than the median value of controls tended to have a higher risk of metabolic-syndrome, higher intima-media thickness, fibrosis, steatosis or lobular inflammation, all considered clinical manifestations of NAFLD. NAFLD is characterized by a procoagulant-imbalance progressing from the less severe (steatosis) to the most severe form of the disease (metabolic-cirrhosis). This imbalance appears to result from increased factor VIII and reduced protein C and might play a role in the risk of cardiovascular events and liver-fibrosis commonly observed in NAFLD. Copyright © 2014 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

  5. Discrimination of acute ischemic stroke from nonischemic vertigo in patients presenting with only imbalance.

    Science.gov (United States)

    Honda, Shoji; Inatomi, Yuichiro; Yonehara, Toshiro; Hashimoto, Yoichiro; Hirano, Teruyuki; Ando, Yukio; Uchino, Makoto

    2014-01-01

    Some patients who present with an acute feeling of imbalance are experiencing an ischemic stroke that is not evident on computed tomography (CT) scans. The aim of this study was to compare ischemic stroke and nonischemic vertigo patient groups and to investigate independent factors associated with ischemic stroke. We examined 332 consecutive patients with an acute feeling of imbalance who showed no neurologic findings or responsible lesions on CT scan at the hyperacute phase. We examined their clinical backgrounds, physical findings, and laboratory examinations, with ischemic stroke diagnosed by later CT and/or magnetic resonance imaging (MRI). We identified 41 (12.3%) ischemic stroke patients. Atrial fibrillation (odds ratio 4.1; 95% confidence interval 1.4-11.5), white blood cell count (10(3)/μL, 1.4; 1.2-1.6), head and/or neck pain (4.6; 2.1-10.3), first attack of imbalance feeling (3.3; 1.1-12.2), and dizziness (3.7; 1.7-8.3) were significant and independent factors associated with ischemic stroke among patients with an acute feeling of imbalance. We used these factors to calculate an "imbalance score"; 1 point was given for the presence of each factor and a score of 3-5 points was independently associated with ischemic stroke. An awareness of these factors may indicate that further examinations including MRI are necessary to rule out ischemic stroke. Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  6. Patterns of Energy Imbalance of the Meridians in Patients with Temporomandibular Dysfunction.

    Science.gov (United States)

    Rasera Zotelli, Vera L; Grillo, Cássia M; Bressiani Gil, Maria L; Wada, Ronaldo S; Sato, Jorge E; de Sousa, Maria da Luz R

    2018-02-01

    Temporomandibular dysfunction (TMD) is a set of changes that affects the muscles of mastication, temporomandibular joint, teeth, and associated periodontal and orofacial structures. According to Traditional Chinese Medicine, the imbalance of energy (Qi) circulating in the acupuncture meridians is always the primary etiologic cause of any physical manifestation. The aim of this study was to describe the patterns of Qi imbalance in patients with TMD by means of an objective measurement. The clinical study was conducted at the Piracicaba Dental School (FOP/Unicamp), in Piracicaba-SP, Brazil. We evaluated 40 adult volunteers with TMD. The Qi measurement was carried out by the researcher using the Ryodoraku method using 24 points representing the 12 acupuncture meridians: LU9 (Taiyuan), PC7 (Daling), HT7 (Shemen), SI5 (Yanggu), TE4 (Yangchi), LI5 (Yangxi), SP3 (Taibai), LR3 (Taichong), KI3 (Taixi), BL64 (Jinggu), GB40 (Qiuxu), and ST42 (Chongyang). The average total Qi of 40 volunteers (21.7 μA ± 1.5), was below the normal range (40-60 μA) and was classified as deficiency of Qi (empty). The coupled meridians that showed the highest Qi imbalance were the kidney (29.4 μA ± 2.8) and bladder (13.8 μA ± 1). The Qi planes with greatest imbalance were the Shao Yang and Shao Yin. In conclusion, volunteers with TMD presented a pattern of Qi deficiency, and the most prevalent imbalance patterns identified were in the kidney and bladder coupled meridians and in the energetic planes Shao Yin (heart/kidney) and Shao Yang (triple energizer/gall bladder). Copyright © 2017. Published by Elsevier B.V.

  7. Analyzing surface EMG signals to determine relationship between jaw imbalance and arm strength loss

    Directory of Open Access Journals (Sweden)

    Truong Quang Dang Khoa

    2012-08-01

    Full Text Available Abstract Background This study investigated the relationship between dental occlusion and arm strength; in particular, the imbalance in the jaw can cause loss in arm strength phenomenon. One of the goals of this study was to record the maximum forces that the subjects can resist against the pull-down force on their hands while biting a spacer of adjustable height on the right or left side of the jaw. Then EMG measurement was used to determine the EMG-Force relationship of the jaw, neck and arms muscles. This gave us useful insights on the arms strength loss due to the biomechanical effects of the imbalance in the jaw mechanism. Methods In this study to determine the effects of the imbalance in the jaw to the strength of the arms, we conducted experiments with a pool of 20 healthy subjects of both genders. The subjects were asked to resist a pull down force applied on the contralateral arm while biting on a firm spacer using one side of the jaw. Four different muscles – masseter muscles, deltoid muscles, bicep muscles and trapezoid muscles – were involved. Integrated EMG (iEMG and Higuchi fractal dimension (HFD were used to analyze the EMG signals. Results The results showed that (1 Imbalance in the jaw causes loss of arm strength contra-laterally; (2 The loss is approximately a linear function of the height of the spacers. Moreover, the iEMG showed the intensity of muscle activities decreased when the degrees of jaw imbalance increased (spacer thickness increased. In addition, the tendency of Higuchi fractal dimension decreased for all muscles. Conclusions This finding indicates that muscle fatigue and the decrease in muscle contraction level leads to the loss of arm strength.

  8. Patterns of Energy Imbalance of the Meridians in Patients with Temporomandibular Dysfunction

    Directory of Open Access Journals (Sweden)

    Vera L. Rasera Zotelli

    2018-02-01

    Full Text Available Temporomandibular dysfunction (TMD is a set of changes that affects the muscles of mastication, temporomandibular joint, teeth, and associated periodontal and orofacial structures. According to Traditional Chinese Medicine, the imbalance of energy (Qi circulating in the acupuncture meridians is always the primary etiologic cause of any physical manifestation. The aim of this study was to describe the patterns of Qi imbalance in patients with TMD by means of an objective measurement. The clinical study was conducted at the Piracicaba Dental School (FOP/Unicamp, in Piracicaba-SP, Brazil. We evaluated 40 adult volunteers with TMD. The Qi measurement was carried out by the researcher using the Ryodoraku method using 24 points representing the 12 acupuncture meridians: LU9 (Taiyuan, PC7 (Daling, HT7 (Shemen, SI5 (Yanggu, TE4 (Yangchi, LI5 (Yangxi, SP3 (Taibai, LR3 (Taichong, KI3 (Taixi, BL64 (Jinggu, GB40 (Qiuxu, and ST42 (Chongyang. The average total Qi of 40 volunteers (21.7 μA ± 1.5, was below the normal range (40–60 μA and was classified as deficiency of Qi (empty. The coupled meridians that showed the highest Qi imbalance were the kidney (29.4 μA ± 2.8 and bladder (13.8 μA ± 1. The Qi planes with greatest imbalance were the Shao Yang and Shao Yin. In conclusion, volunteers with TMD presented a pattern of Qi deficiency, and the most prevalent imbalance patterns identified were in the kidney and bladder coupled meridians and in the energetic planes Shao Yin (heart/kidney and Shao Yang (triple energizer/gall bladder.

  9. Effect of population imbalance on the Berezinskii-Kosterlitz-Thouless phase transition in a superfluid Fermi gas

    International Nuclear Information System (INIS)

    Tempere, J.; Klimin, S. N.; Devreese, J. T.

    2009-01-01

    The Berezinskii-Kosterlitz-Thouless (BKT) mechanism describes the breakdown of superfluidity in a two-dimensional Bose gas or a two-dimensional gas of paired fermions. In the latter case, a population imbalance between the two pairing partners in the Fermi mixture is known to influence pairing characteristics. Here, we investigate the effects of imbalance on the two-dimensional BKT superfluid transition and show that superfluidity is even more sensitive to imbalance than for three-dimensional systems. Finite-temperature phase diagrams are derived using the functional integral formalism in combination with a hydrodynamic action functional for the phase fluctuations. This allows to identify a phase-separation region and tricritical points due to imbalance. In contrast to superfluidity in the three-dimensional case, the effect of imbalance is also pronounced in the strong-coupling regime.

  10. Chromosome evolution in Cophomantini (Amphibia, Anura, Hylinae)

    Science.gov (United States)

    Suárez, Pablo; Boeris, Juan M.; Blasco-Zúñiga, Ailin; Barbero, Gastón; Gomes, Anderson; Gazoni, Thiago; Costa, William; Nagamachi, Cleusa Y.; Rivera, Miryan; Parise-Maltempi, Patricia P.; Wiley, John E.; Pieczarka, Julio C.; Haddad, Celio F. B.; Faivovich, Julián; Baldo, Diego

    2018-01-01

    The hylid tribe Cophomantini is a diverse clade of Neotropical treefrogs composed of the genera Aplastodiscus, Boana, Bokermannohyla, Hyloscirtus, and Myersiohyla. The phylogenetic relationships of Cophomantini have been comprehensively reviewed in the literature, providing a suitable framework for the study of chromosome evolution. Employing different banding techniques, we studied the chromosomes of 25 species of Boana and 3 of Hyloscirtus; thus providing, for the first time, data for Hyloscirtus and for 15 species of Boana. Most species showed karyotypes with 2n = 2x = 24 chromosomes; some species of the B. albopunctata group have 2n = 2x = 22, and H. alytolylax has 2n = 2x = 20. Karyotypes are all bi-armed in most species presented, with the exception of H. larinopygion (FN = 46) and H. alytolylax (FN = 38), with karyotypes that have a single pair of small telocentric chromosomes. In most species of Boana, NORs are observed in a single pair of chromosomes, mostly in the small chromosomes, although in some species of the B. albopunctata, B. pulchella, and B. semilineata groups, this marker occurs on the larger pairs 8, 1, and 7, respectively. In Hyloscirtus, NOR position differs in the three studied species: H. alytolylax (4p), H. palmeri (4q), and H. larinopygion (1p). Heterochromatin is a variable marker that could provide valuable evidence, but it would be necesserary to understand the molecular composition of the C-bands that are observed in different species in order to test its putative homology. In H. alytolylax, a centromeric DAPI+ band was observed on one homologue of chromosome pair 2. The band was present in males but absent in females, providing evidence for an XX/XY sex determining system in this species. We review and discuss the importance of the different chromosome markers (NOR position, C-bands, and DAPI/CMA3 patterns) for their impact on the taxonomy and karyotype evolution in Cophomantini. PMID:29444174

  11. Demasculinization of the Anopheles gambiae X chromosome

    Directory of Open Access Journals (Sweden)

    Magnusson Kalle

    2012-05-01

    Full Text Available Abstract Background In a number of organisms sex-biased genes are non-randomly distributed between autosomes and the shared sex chromosome X (or Z. Studies on Anopheles gambiae have produced conflicting results regarding the underrepresentation of male-biased genes on the X chromosome and it is unclear to what extent sexual antagonism, dosage compensation or X-inactivation in the male germline, the evolutionary forces that have been suggested to affect the chromosomal distribution of sex-biased genes, are operational in Anopheles. Results We performed a meta-analysis of sex-biased gene expression in Anopheles gambiae which provides evidence for a general underrepresentation of male-biased genes on the X-chromosome that increased in significance with the observed degree of sex-bias. A phylogenomic comparison between Drosophila melanogaster, Aedes aegypti and Culex quinquefasciatus also indicates that the Anopheles X chromosome strongly disfavours the evolutionary conservation of male-biased expression and that novel male-biased genes are more likely to arise on autosomes. Finally, we demonstrate experimentally that transgenes situated on the Anopheles gambiae X chromosome are transcriptionally silenced in the male germline. Conclusion The data presented here support the hypothesis that the observed demasculinization of the Anopheles X chromosome is driven by X-chromosome inactivation in the male germline and by sexual antagonism. The demasculinization appears to be the consequence of a loss of male-biased expression, rather than a failure in the establishment or the extinction of male-biased genes.

  12. Human Chromosome 7: DNA Sequence and Biology

    OpenAIRE

    Scherer, Stephen W.; Cheung, Joseph; MacDonald, Jeffrey R.; Osborne, Lucy R.; Nakabayashi, Kazuhiko; Herbrick, Jo-Anne; Carson, Andrew R.; Parker-Katiraee, Layla; Skaug, Jennifer; Khaja, Razi; Zhang, Junjun; Hudek, Alexander K.; Li, Martin; Haddad, May; Duggan, Gavin E.

    2003-01-01

    DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate gene...

  13. Chromosomal organization and segregation in Pseudomonas aeruginosa.

    Directory of Open Access Journals (Sweden)

    Isabelle Vallet-Gely

    2013-05-01

    Full Text Available The study of chromosomal organization and segregation in a handful of bacteria has revealed surprising variety in the mechanisms mediating such fundamental processes. In this study, we further emphasized this diversity by revealing an original organization of the Pseudomonas aeruginosa chromosome. We analyzed the localization of 20 chromosomal markers and several components of the replication machinery in this important opportunistic γ-proteobacteria pathogen. This technique allowed us to show that the 6.3 Mb unique circular chromosome of P. aeruginosa is globally oriented from the old pole of the cell to the division plane/new pole along the oriC-dif axis. The replication machinery is positioned at mid-cell, and the chromosomal loci from oriC to dif are moved sequentially to mid-cell prior to replication. The two chromosomal copies are subsequently segregated at their final subcellular destination in the two halves of the cell. We identified two regions in which markers localize at similar positions, suggesting a bias in the distribution of chromosomal regions in the cell. The first region encompasses 1.4 Mb surrounding oriC, where loci are positioned around the 0.2/0.8 relative cell length upon segregation. The second region contains at least 800 kb surrounding dif, where loci show an extensive colocalization step following replication. We also showed that disrupting the ParABS system is very detrimental in P. aeruginosa. Possible mechanisms responsible for the coordinated chromosomal segregation process and for the presence of large distinctive regions are discussed.

  14. Female meiotic sex chromosome inactivation in chicken.

    Directory of Open Access Journals (Sweden)

    Sam Schoenmakers

    2009-05-01

    Full Text Available During meiotic prophase in male mammals, the heterologous X and Y chromosomes remain largely unsynapsed, and meiotic sex chromosome inactivation (MSCI leads to formation of the transcriptionally silenced XY body. In birds, the heterogametic sex is female, carrying Z and W chromosomes (ZW, whereas males have the homogametic ZZ constitution. During chicken oogenesis, the heterologous ZW pair reaches a state of complete heterologous synapsis, and this might enable maintenance of transcription of Z- and W chromosomal genes during meiotic prophase. Herein, we show that the ZW pair is transiently silenced, from early pachytene to early diplotene using immunocytochemistry and gene expression analyses. We propose that ZW inactivation is most likely achieved via spreading of heterochromatin from the W on the Z chromosome. Also, persistent meiotic DNA double-strand breaks (DSBs may contribute to silencing of Z. Surprisingly, gammaH2AX, a marker of DSBs, and also the earliest histone modification that is associated with XY body formation in mammalian and marsupial spermatocytes, does not cover the ZW during the synapsed stage. However, when the ZW pair starts to desynapse, a second wave of gammaH2AX accumulates on the unsynapsed regions of Z, which also show a reappearance of the DSB repair protein RAD51. This indicates that repair of meiotic DSBs on the heterologous part of Z is postponed until late pachytene/diplotene, possibly to avoid recombination with regions on the heterologously synapsed W chromosome. Two days after entering diplotene, the Z looses gammaH2AX and shows reactivation. This is the first report of meiotic sex chromosome inactivation in a species with female heterogamety, providing evidence that this mechanism is not specific to spermatogenesis. It also indicates the presence of an evolutionary force that drives meiotic sex chromosome inactivation independent of the final achievement of synapsis.

  15. Abnormal sex chromosome constitution and longitudinal growth

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Skakkebaek, Niels E; Juul, Anders

    2008-01-01

    Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles.......Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles....

  16. Chromosome evolution in Cophomantini (Amphibia, Anura, Hylinae.

    Directory of Open Access Journals (Sweden)

    Juan M Ferro

    Full Text Available The hylid tribe Cophomantini is a diverse clade of Neotropical treefrogs composed of the genera Aplastodiscus, Boana, Bokermannohyla, Hyloscirtus, and Myersiohyla. The phylogenetic relationships of Cophomantini have been comprehensively reviewed in the literature, providing a suitable framework for the study of chromosome evolution. Employing different banding techniques, we studied the chromosomes of 25 species of Boana and 3 of Hyloscirtus; thus providing, for the first time, data for Hyloscirtus and for 15 species of Boana. Most species showed karyotypes with 2n = 2x = 24 chromosomes; some species of the B. albopunctata group have 2n = 2x = 22, and H. alytolylax has 2n = 2x = 20. Karyotypes are all bi-armed in most species presented, with the exception of H. larinopygion (FN = 46 and H. alytolylax (FN = 38, with karyotypes that have a single pair of small telocentric chromosomes. In most species of Boana, NORs are observed in a single pair of chromosomes, mostly in the small chromosomes, although in some species of the B. albopunctata, B. pulchella, and B. semilineata groups, this marker occurs on the larger pairs 8, 1, and 7, respectively. In Hyloscirtus, NOR position differs in the three studied species: H. alytolylax (4p, H. palmeri (4q, and H. larinopygion (1p. Heterochromatin is a variable marker that could provide valuable evidence, but it would be necesserary to understand the molecular composition of the C-bands that are observed in different species in order to test its putative homology. In H. alytolylax, a centromeric DAPI+ band was observed on one homologue of chromosome pair 2. The band was present in males but absent in females, providing evidence for an XX/XY sex determining system in this species. We review and discuss the importance of the different chromosome markers (NOR position, C-bands, and DAPI/CMA3 patterns for their impact on the taxonomy and karyotype evolution in Cophomantini.

  17. Interphase Chromosome Profiling: A Method for Conventional Banded Chromosome Analysis Using Interphase Nuclei.

    Science.gov (United States)

    Babu, Ramesh; Van Dyke, Daniel L; Dev, Vaithilingam G; Koduru, Prasad; Rao, Nagesh; Mitter, Navnit S; Liu, Mingya; Fuentes, Ernesto; Fuentes, Sarah; Papa, Stephen

    2018-02-01

    - Chromosome analysis on bone marrow or peripheral blood samples fails in a small proportion of attempts. A method that is more reliable, with similar or better resolution, would be a welcome addition to the armamentarium of the cytogenetics laboratory. - To develop a method similar to banded metaphase chromosome analysis that relies only on interphase nuclei. - To label multiple targets in an equidistant fashion along the entire length of each chromosome, including landmark subtelomere and centromere regions. Each label so generated by using cloned bacterial artificial chromosome probes is molecularly distinct with unique spectral characteristics, so the number and position of the labels can be tracked to identify chromosome abnormalities. - Interphase chromosome profiling (ICP) demonstrated results similar to conventional chromosome analysis and fluorescence in situ hybridization in 55 previously studied cases and obtained useful ICP chromosome analysis results on another 29 cases in which conventional methods failed. - ICP is a new and powerful method to karyotype peripheral blood and bone marrow aspirate preparations without reliance on metaphase chromosome preparations. It will be of particular value for cases with a failed conventional analysis or when a fast turnaround time is required.

  18. Paternal isodisomy of chromosome 6 in association with a maternal supernumerary marker chromosome (6)

    Energy Technology Data Exchange (ETDEWEB)

    James, R.S.; Crolla, J.A.; Sitch, F.L. [Salisbury District Hospital, Wiltshire (United Kingdom)] [and others

    1994-09-01

    Uniparental disomy may arise by a number of different mechanisms of aneuploidy correction. A population that has been identified as being at increased risk of aneuploidy are those individuals bearing supernumerary marker chromosomes (SMCs). There have been a number of cases reported of trisomy 21 in association with bi-satellited marker chromosomes have described two individuals with small inv dup (15) markers. One had paternal isodisomy of chromosome 15 and Angelman syndrome. The other had maternal heterodisomy (15) and Prader-Willi syndrome. At the Wessex Regional Genetics Laboratory we have conducted a search for uniparental disomy of the normal homologues of the chromosomes from which SMCs originated. Our study population consists of 39 probands with SMCs originating from a number of different autosomes, including 17 with SMCs of chromosome 15 origin. Using PCR amplification of microsatellite repeat sequences located distal to the regions included in the SMCs we have determined the parental origin of the two normal homologues in each case. We have identified paternal isodisomy of chromosome 6 in a female child with a supernumerary marker ring chromosome 6 in approximately 70% of peripheral blood lymphocytes. The marker was found to be of maternal origin. This is the second case of paternal isodisomy of chromosome 6 to be reported, and the first in association with a SMC resulting in a partial trisomy for a portion of the short arm of chromosome 6. In spite of this, the patient appears to be functioning appropriately for her age.

  19. Chromosomes in the genesis and progression of ependymomas

    DEFF Research Database (Denmark)

    Rogatto, S R; Casartelli, C; Rainho, C A

    1993-01-01

    chromosomes in three cases. Structural rearrangements of chromosome 2 were a finding for all cases and involved loss of material at 2q32-34. Other structural chromosome abnormalities detected involved chromosomes 4, 6, 10, 11, 12, and X. We also reviewed data on 22 cases previously reported....

  20. Chromosome abnormalities in atomic bomb survivors

    Energy Technology Data Exchange (ETDEWEB)

    Tomonaga, Y [Nagasaki Univ. (Japan). School of Medicine

    1976-09-01

    Chromosome abnormalities in bone marrow cells were recognized in 6 cases which consisted of one case of chronic myelogenous leukemia, two cases of acute myelogenous leukemia, one case of sideroblastic anemia, and two cases of myelodysplasis. Frequency of stable type chromosome abnormalities in bone marrow cells was investigated in 45 atomic bomb survivors without hematologic disorders and 15 controls. It was 1.4% (15 cases) in the group exposed to atomic bomb within 1 km from the hypocenter, which was significantly higher as compared with 0.1% (15 cases) in the group exposed to atomic bomb over 2.5 km from the hypocenter and 0.2% in normal controls. Examination of chromosome was also made on 2 of 3 cases which were the seconds born of female with high chromosome abnormality, who was exposed to within 1 km from the hypocenter, and healthy male exposed 3 km from the hypocenter. These two cases showed chromosome of normal male type, and balanced translocation was not recognized. There was not a significant difference in chromosome abnormalities between the seconds of atomic bomb survivors and controls.

  1. Evolutionary stability of sex chromosomes in snakes.

    Science.gov (United States)

    Rovatsos, Michail; Vukić, Jasna; Lymberakis, Petros; Kratochvíl, Lukáš

    2015-12-22

    Amniote vertebrates possess various mechanisms of sex determination, but their variability is not equally distributed. The large evolutionary stability of sex chromosomes in viviparous mammals and birds was believed to be connected with their endothermy. However, some ectotherm lineages seem to be comparably conserved in sex determination, but previously there was a lack of molecular evidence to confirm this. Here, we document a stability of sex chromosomes in advanced snakes based on the testing of Z-specificity of genes using quantitative PCR (qPCR) across 37 snake species (our qPCR technique is suitable for molecular sexing in potentially all advanced snakes). We discovered that at least part of sex chromosomes is homologous across all families of caenophidian snakes (Acrochordidae, Xenodermatidae, Pareatidae, Viperidae, Homalopsidae, Colubridae, Elapidae and Lamprophiidae). The emergence of differentiated sex chromosomes can be dated back to about 60 Ma and preceded the extensive diversification of advanced snakes, the group with more than 3000 species. The Z-specific genes of caenophidian snakes are (pseudo)autosomal in the members of the snake families Pythonidae, Xenopeltidae, Boidae, Erycidae and Sanziniidae, as well as in outgroups with differentiated sex chromosomes such as monitor lizards, iguanas and chameleons. Along with iguanas, advanced snakes are therefore another example of ectothermic amniotes with a long-term stability of sex chromosomes comparable with endotherms. © 2015 The Author(s).

  2. Chromosome aberration assays in barley (Hordeum vulgare)

    Energy Technology Data Exchange (ETDEWEB)

    Constantin, M J [Univ. of Tennessee, Knoxville; Nilan, R A

    1982-01-01

    Barley is an exceellent organism for studies of induced chromosome aberrations because of its few (2n = 2x = 14) relatively large chromosomes. Root-tip and shoot-tip cells have been used extensively for the study of ionizing radiation-induced chromosome aberrations. The general procedures are well known, the technology is simple and easy to learn, and the assays are relatively quick and inexpensive. Both root tips and shoot tips can be used for the study of chemical mutagens as well as ionizing radiations. Pollen mother cells are well suited for studying the effects of mutagens on meiotic chromosomes. The literature review for the Gene-Tox Program reported on 61 chemicals tested for their effects on barley chromosomes. Of these, 90% were reported to be either positive or positive dose-related, while 7% were negative and 3% were questionable. Barley assays based on chromosomal aberrations are useful to detect the clastogenic potency of chemicals under laboratory conditions. Indications are that the data from barley can be used to corroborate data obtained from other organisms. Among the classes of chemicals assayed were: alcohols and phenols; alkaloids; epoxides; alkyl sulfates; amides and sulfonamides; aromatic amines; aryl halides; aziridines; alkenes; carbamates; hydroazides; nitroaromatics; nitrosamides; nitrosources; phenothiazines; and polycyclic aromatic hydrocarbons.

  3. Flow cytogenetics: progress toward chromosomal aberration detection

    International Nuclear Information System (INIS)

    Carrano, A.V.; Gray, J.W.; Van Dilla, M.A.

    1977-01-01

    Using clonal derivatives of the Chinese hamster M3-1 cell line, we demonstrate the potential of flow systems to karyotype homogeneous aberrations (aberrations which are identical and present in every cell) and to detect heterogeneous aberrations (aberrations which occur randomly in a population and are not identical in every cell). Flow cytometry (FCM) of ethidium bromide stained isolated chromosomes from clone 650A of the M3-1 cells distinguishes nine chromosome types from the fourteen present in the actual karyotype. X-irradiation of this parent 650A clone produced two sub-clones with an altered flow karyotype, that is, their FCM distributions were characterized by the addition of new peaks and alterations in area under existing peaks. From the relative DNA content and area for each peak, as determined by computer analysis, we predicted that each clone had undergone a reciprocal translocation involving chromosomes from two peaks. This prediction was confirmed by Giemsa-banding the metaphase cells. Heterogeneous aberrations are reflected in the flow karyotype as an increase in background, that is, an increase in area underlying the chromosome peaks. This increase is dose dependent but, as yet, the sample variability has been too large for quantitative analysis. Flow sorting of the valleys between chromosome peaks produces enriched fractions of aberrant chromosomes for visual analysis. These approaches are potentially applicable to the analysis of chromsomal aberrations induced by environmental contaminants

  4. Chromosome abnormalities in atomic bomb survivors

    International Nuclear Information System (INIS)

    Tomonaga, Yu

    1976-01-01

    Chromosome abnormalities in bone marrow cells were recognized in 6 cases which consisted of one case of chronic myelogenous leukemia, two cases of acute myelogenous leukemia, one case of sideroblastic anemia, and two cases of myelodysplasis. Frequency of stable type chromosome abnormalities in bone marrow cells was investigated in 45 atomic bomb survivors without hematologic disorders and 15 controls. It was 1.4% (15 cases) in the group exposed to atomic bomb within 1 km from the hypocenter, which was significantly higher as compared with 0.1% (15 cases) in the group exposed to atomic bomb over 2.5 km from the hypocenter and 0.2% in normal controls. Examination of chromosome was also made on 2 of 3 cases which were the seconds born of female with high chromosome abnormality, who was exposed to within 1 km from the hypocenter, and healthy male exposed 3 km from the hypocenter. These two cases showed chromosome of normal male type, and balanced translocation was not recognized. There was not a significant difference in chromosome abnormalities between the seconds of atomic bomb survivors and controls. (Kanao, N.)

  5. Polytene chromosome map and inversion polymorphism in Drosophila mediopunctata

    Directory of Open Access Journals (Sweden)

    Galina Ananina

    2002-07-01

    Full Text Available Drosophila mediopunctata belongs to the tripunctata group, and is one of the commonest Drosophila species collected in some places in Brazil, especially in the winter. A standard map of the polytene chromosomes is presented. The breakpoints of the naturally occurring chromosomal rearrangements are marked on the map. The distribution of breaking points through the chromosomes of D. mediopunctata is apparently non-random. Chromosomes X, II and IV show inversion polymorphisms. Chromosome II is the most polymorphic, with 17 inversions, 8 inversions in the distal region and 9 in the proximal region. Chromosome X has four different gene arrangements, while chromosome IV has only two.

  6. Chromosomal Localization of DNA Amplifications in Neuroblastoma Tumors Using cDNA Microarray Comparative Genomic Hybridization

    Directory of Open Access Journals (Sweden)

    Ben Beheshti

    2003-01-01

    Full Text Available Conventional comparative genomic hybridization (CGH profiling of neuroblastomas has identified many genomic aberrations, although the limited resolution has precluded a precise localization of sequences of interest within amplicons. To map high copy number genomic gains in clinically matched stage IV neuroblastomas, CGH analysis using a 19,200-feature cDNA microarray was used. A dedicated (freely available algorithm was developed for rapid in silico determination of chromosomal localizations of microarray cDNA targets, and for generation of an ideogram-type profile of copy number changes. Using these methodologies, novel gene amplifications undetectable by chromosome CGH were identified, and larger MYCN amplicon sizes (in one tumor up to 6 Mb than those previously reported in neuroblastoma were identified. The genes HPCAL1, LPIN1/KIAA0188, NAG, and NSE1/LOC151354 were found to be coamplified with MYCN. To determine whether stage IV primary tumors could be further subclassified based on their genomic copy number profiles, hierarchical clustering was performed. Cluster analysis of microarray CGH data identified three groups: 1 no amplifications evident, 2 a small MYCN amplicon as the only detectable imbalance, and 3 a large MYCN amplicon with additional gene amplifications. Application of CGH to cDNA microarray targets will help to determine both the variation of amplicon size and help better define amplification-dependent and independent pathways of progression in neuroblastoma.

  7. Non-SMC condensin I complex proteins control chromosome segregation and survival of proliferating cells in the zebrafish neural retina

    Directory of Open Access Journals (Sweden)

    Harris William A

    2009-07-01

    Full Text Available Abstract Background The condensation of chromosomes and correct sister chromatid segregation during cell division is an essential feature of all proliferative cells. Structural maintenance of chromosomes (SMC and non-SMC proteins form the condensin I complex and regulate chromosome condensation and segregation during mitosis. However, due to the lack of appropriate mutants, the function of the condensin I complex during vertebrate development has not been described. Results Here, we report the positional cloning and detailed characterization of retinal phenotypes of a zebrafish mutation at the cap-g locus. High resolution live imaging reveals that the progression of mitosis between prometa- to telophase is delayed and that sister chromatid segregation is impaired upon loss of CAP-G. CAP-G associates with chromosomes between prometa- and telophase of the cell cycle. Loss of the interaction partners CAP-H and CAP-D2 causes cytoplasmic mislocalization of CAP-G throughout mitosis. DNA content analysis reveals increased genomic imbalances upon loss of non-SMC condensin I subunits. Within the retina, loss of condensin I function causes increased rates of apoptosis among cells within the proliferative ciliary marginal zone (CMZ whereas postmitotic retinal cells are viable. Inhibition of p53-mediated apoptosis partially rescues cell numbers in cap-g mutant retinae and allows normal layering of retinal cell types without alleviating their aberrant nuclear sizes. Conclusion Our findings indicate that the condensin I complex is particularly important within rapidly amplifying progenitor cell populations to ensure faithful chromosome segregation. In contrast, differentiation of postmitotic retinal cells is not impaired upon polyploidization.

  8. Sequencing of individual chromosomes of plant pathogenic Fusarium oxysporum.

    Science.gov (United States)

    Kashiwa, Takeshi; Kozaki, Toshinori; Ishii, Kazuo; Turgeon, B Gillian; Teraoka, Tohru; Komatsu, Ken; Arie, Tsutomu

    2017-01-01

    A small chromosome in reference isolate 4287 of F. oxysporum f. sp. lycopersici (Fol) has been designated as a 'pathogenicity chromosome' because it carries several pathogenicity related genes such as the Secreted In Xylem (SIX) genes. Sequence assembly of small chromosomes in other isolates, based on a reference genome template, is difficult because of karyotype variation among isolates and a high number of sequences associated with transposable elements. These factors often result in misassembly of sequences, making it unclear whether other isolates possess the same pathogenicity chromosome harboring SIX genes as in the reference isolate. To overcome this difficulty, single chromosome sequencing after Contour-clamped Homogeneous Electric Field (CHEF) separation of chromosomes was performed, followed by de novo assembly of sequences. The assembled sequences of individual chromosomes were consistent with results of probing gels of CHEF separated chromosomes with SIX genes. Individual chromosome sequencing revealed that several SIX genes are located on a single small chromosome in two pathogenic forms of F. oxysporum, beyond the reference isolate 4287, and in the cabbage yellows fungus F. oxysporum f. sp. conglutinans. The particular combination of SIX genes on each small chromosome varied. Moreover, not all SIX genes were found on small chromosomes; depending on the isolate, some were on big chromosomes. This suggests that recombination of chromosomes and/or translocation of SIX genes may occur frequently. Our method improves sequence comparison of small chromosomes among isolates. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Analysis of the flow imbalance in the KSTAR PF cryo-circuit

    International Nuclear Information System (INIS)

    Lee, Hyun-Jung; Park, Dong-Seong; Kwag, Sang-Woo; Joo, Jae-Jun; Moon, Kyung-Mo; Kim, Nam-Won; Lee, Young-Joo; Park, Young-Min; Yang, Hyung-Lyeol

    2015-01-01

    Highlights: • Investigate of flow imbalance trend for the KSTAR PF superconducting magnet. • Flow imbalance is compared with individual magnet test and integration magnet test. • Intensifying of flow imbalance is proven from the flow monitoring in the KSTAR PF circuit. • Flow behavior is analyzed during magnet charging in the circulator circuit. • Variation of magnet outlet temperature is analyzed due to flow imbalance. - Abstract: The KSTAR PF cryo-circuit is a quasi-closed circulation system in which more than 370 g/s of supercritical helium (SHe) is circulated using a SHe circulator. The heated helium from superconducting magnet is cooled through sub cooler (4.3 K). The circulator is operated at 4.5 K and 6.5 bar, and the pressure drop of the circuit is kept at 2 bar in order to maintain the supercritical state and circulator stability. The circuit is connected with helium refrigerator system, distribution system, and supercritical magnet system. It has a hundred branches to supply supercritical helium to the poloidal field superconducting magnet. The branch was designed to optimize the operation conditions and they are grouped for one cryogenic valve has the same length within the cardinal principle of the optimization. Five cryogenic valves are installed to control the mass flow rate, and seven orifice mass flow meters, differential pressure gauges and temperature sensors were installed in front of the magnet in the distribution because upper magnet and lower magnet is symmetric theoretically. The cryogenic pipe line was manufactured with elevation about 10 m between upper magnet and lower magnet. The inlet and outlet helium feed-through were installed at the coil inside in case of KSTAR PF1–PF5 upper magnet and lower magnet. The flow imbalance is caused by void fraction and it could be changed due to manufacturing process even if it has the same length of cooling channel. This creates an imbalance among cooling channels and temperatures are

  10. [Development and practice evaluation of blood acid-base imbalance analysis software].

    Science.gov (United States)

    Chen, Bo; Huang, Haiying; Zhou, Qiang; Peng, Shan; Jia, Hongyu; Ji, Tianxing

    2014-11-01

    To develop a blood gas, acid-base imbalance analysis computer software to diagnose systematically, rapidly, accurately and automatically determine acid-base imbalance type, and evaluate the clinical application. Using VBA programming language, a computer aided diagnostic software for the judgment of acid-base balance was developed. The clinical data of 220 patients admitted to the Second Affiliated Hospital of Guangzhou Medical University were retrospectively analyzed. The arterial blood gas [pH value, HCO(3)(-), arterial partial pressure of carbon dioxide (PaCO₂)] and electrolytes included data (Na⁺ and Cl⁻) were collected. Data were entered into the software for acid-base imbalances judgment. At the same time the data generation was calculated manually by H-H compensation formula for determining the type of acid-base imbalance. The consistency of judgment results from software and manual calculation was evaluated, and the judgment time of two methods was compared. The clinical diagnosis of the types of acid-base imbalance for the 220 patients: 65 cases were normal, 90 cases with simple type, mixed type in 41 cases, and triplex type in 24 cases. The accuracy of the judgment results of the normal and triplex types from computer software compared with which were calculated manually was 100%, the accuracy of the simple type judgment was 98.9% and 78.0% for the mixed type, and the total accuracy was 95.5%. The Kappa value of judgment result from software and manual judgment was 0.935, P=0.000. It was demonstrated that the consistency was very good. The time for software to determine acid-base imbalances was significantly shorter than the manual judgment (seconds:18.14 ± 3.80 vs. 43.79 ± 23.86, t=7.466, P=0.000), so the method of software was much faster than the manual method. Software judgment can replace manual judgment with the characteristics of rapid, accurate and convenient, can improve work efficiency and quality of clinical doctors and has great

  11. Molecular mapping of chromosomes 17 and X

    Energy Technology Data Exchange (ETDEWEB)

    Barker, D.F.

    1991-01-15

    Progress toward the construction of high density genetic maps of chromosomes 17 and X has been made by isolating and characterizing a relatively large set of polymorphic probes for each chromosome and using these probes to construct genetic maps. We have mapped the same polymorphic probes against a series of chromosome breakpoints on X and 17. The probes could be assigned to over 30 physical intervals on the X chromosome and 7 intervals on 17. In many cases, this process resulted in improved characterization of the relative locations of the breakpoints with respect to each other and the definition of new physical intervals. The strategy for isolation of the polymorphic clones utilized chromosome specific libraries of 1--15 kb segments from each of the two chromosomes. From these libraries, clones were screened for those detecting restriction fragment length polymorphisms. The markers were further characterized, the chromosomal assignments confirmed and in most cases segments of the original probes were subcloned into plasmids to produce probes with improved signal to noise ratios for use in the genetic marker studies. The linkage studies utilize the CEPH reference families and other well-characterized families in our collection which have been used for genetic disease linkage work. Preliminary maps and maps of portions of specific regions of 17 and X are provided. We have nearly completed a map of the 1 megabase Mycoplasma arthritidis genome by applying these techniques to a lambda phage library of its genome. We have found bit mapping to be an efficient means to organize a contiguous set of overlapping clones from a larger genome.

  12. Chromosomal organization of adrenergic receptor genes

    International Nuclear Information System (INIS)

    Yang-Feng, T.L.; Xue, Feiyu; Zhong, Wuwei; Cotecchia, S.; Frielle, T.; Caron, M.G.; Lefkowitz, R.J.; Francke, U.

    1990-01-01

    The adrenergic receptors (ARs) (subtypes α 1 , α 2 , β 1 , and β 2 ) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. The authors have previously assigned the genes for β 2 -and α 2 -AR to human chromosomes 5 and 10, respectively. By Southern analysis of somatic cell hybrids and in situ chromosomal hybridization, they have now mapped the α 1 -AR gene to chromosome 5q32→q34, the same position as β 2 -AR, and the β 1 -AR gene to chromosome 10q24→q26, the region where α 2 -AR, is located. In mouse, both α 2 -and β 1 -AR genes were assigned to chromosome 19, and the α 1 -AR locus was localized to chromosome 11. Pulsed field gel electrophoresis has shown that the α 1 -and β 2 -AR genes in humans are within 300 kilobases (kb) and the distance between the α 2 - and β 1 -AR genes is <225 kb. The proximity of these two pairs of AR genes and the sequence similarity that exists among all the ARs strongly suggest that they are evolutionarily related. Moreover, they likely arose from a common ancestral receptor gene and subsequently diverged through gene duplication and chromosomal duplication to perform their distinctive roles in mediation the physiological effects of catecholamines. The AR genes thus provide a paradigm for understanding the evolution of such structurally conserved yet functionally divergent families off receptor molecules

  13. Klinefelter syndrome and other sex chromosomal aneuploidies

    Directory of Open Access Journals (Sweden)

    Graham John M

    2006-10-01

    Full Text Available Abstract The term Klinefelter syndrome (KS describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH, and luteinizing hormone (LH. The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ decrease of approximately 15–16 points, with language most affected

  14. Additional chromosome abnormalities in chronic myeloid leukemia

    Directory of Open Access Journals (Sweden)

    Hui-Hua Hsiao

    2011-02-01

    Full Text Available The Philadelphia (Ph chromosome and/or Breakpoint cluster region-Abelson leukemia virus oncogene transcript are unique markers for chronic myeloid leukemia (CML. However, CML demonstrates heterogeneous presentations and outcomes. We analyzed the cytogenetic and molecular results of CML patients to evaluate their correlation with clinical presentations and outcome. A total of 84 newly diagnosed CML patients were enrolled in the study. Patients were treated according to disease status. Bone marrow samples were obtained to perform cytogenetic and molecular studies. Clinical presentations, treatment courses, and survival were reviewed retrospectively. Among 84 patients, 72 had chronic phase and 12 had accelerated phase CML. Cytogenetic study showed 69 (82.1% with the classic Ph chromosome, 6 (7.2% with a variant Ph chromosome, and 9 (10.7% with additional chromosome abnormalities. Fifty-four (64.3% cases harbored b3a2 transcripts, 29 (34.5% had b2a2 transcript, and 1 had e19a2 transcript. There was no difference in clinical presentations between different cytogenetic and molecular groups; however, additional chromosome abnormalities were significantly associated with the accelerated phase. Imatinib therapy was an effective treatment, as measured by cytogenetic response, when administered as first- and second-line therapy in chronic phase patients. Survival analysis showed that old age, additional chromosome abnormalities, high Sokal score, and no cytogenetic response in second-line therapy had a significant poor impact (p<0.05. In conclusion, we presented the cytogenetic and molecular pattern of CML patients and demonstrated that the additional chromosome abnormality was associated with poor outcome.

  15. Microdissection and chromosome painting of the alien chromosome in an addition line of wheat--Thinopyrum intermedium.

    Science.gov (United States)

    Deng, Chuanliang; Bai, Lili; Fu, Shulan; Yin, Weibo; Zhang, Yingxin; Chen, Yuhong; Wang, Richard R-C; Zhang, Xiangqi; Han, Fangpu; Hu, Zanmin

    2013-01-01

    In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat--Thinopyrum intermedium addition line, and the chromosomes of the three different genomes of Th. Intermedium. The smallest alien chromosome of TAi-27 was microdissected and its DNA amplified by DOP-PCR was used as a probe to hybridize with metaphase chromosomes of TAi-27 and Th. intermedium. Results showed that hybridization signals were observed in all regions of a pair of the smallest alien chromosomes and the pericentromeric area of another pair of alien chromosomes in TAi-27, indicating that the probe from microdissected chromosome is species specific. In Th. intermedium, 14 chromosomes had wide and strong hybridization signals distributed mainly on the pericentromere area and 9 chromosomes with narrow and weak signals on the pericentromere area. The remaining chromosomes displayed a very weak or no signal. Sequential FISH/GISH on Th. intermedium chromosomes using the DNAs of microdissected chromosome, Pseudoroegneria spicata (St genome) and pDbH12 (a J(s) genome specific probe) as the probes indicated that the microdissected chromosome belonged to the St genome, three genomes (J(s) , J and St) in Th. intermedium could be distinguished, in which there is no hybridization signal on J genome that is similar to the genome of Th. bessarabicum. Our results showed that the smallest alien chromosomes may represent a truncated chromosome and the repetitive sequence distribution might be similar in different chromosomes within the St genome. However, the repetitive sequence distributions are different within the J(s) genome, within a single chromosome, and among different genomes in Th. intermedium. Our results suggested that chromosome painting could be feasible in some plants and useful in detecting chromosome variation and repetitive sequence distribution in different genomes of polyploidy plants, which is helpful for understanding the evolution of different

  16. Microdissection and chromosome painting of the alien chromosome in an addition line of wheat--Thinopyrum intermedium.

    Directory of Open Access Journals (Sweden)

    Chuanliang Deng

    Full Text Available In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat--Thinopyrum intermedium addition line, and the chromosomes of the three different genomes of Th. Intermedium. The smallest alien chromosome of TAi-27 was microdissected and its DNA amplified by DOP-PCR was used as a probe to hybridize with metaphase chromosomes of TAi-27 and Th. intermedium. Results showed that hybridization signals were observed in all regions of a pair of the smallest alien chromosomes and the pericentromeric area of another pair of alien chromosomes in TAi-27, indicating that the probe from microdissected chromosome is species specific. In Th. intermedium, 14 chromosomes had wide and strong hybridization signals distributed mainly on the pericentromere area and 9 chromosomes with narrow and weak signals on the pericentromere area. The remaining chromosomes displayed a very weak or no signal. Sequential FISH/GISH on Th. intermedium chromosomes using the DNAs of microdissected chromosome, Pseudoroegneria spicata (St genome and pDbH12 (a J(s genome specific probe as the probes indicated that the microdissected chromosome belonged to the St genome, three genomes (J(s , J and St in Th. intermedium could be distinguished, in which there is no hybridization signal on J genome that is similar to the genome of Th. bessarabicum. Our results showed that the smallest alien chromosomes may represent a truncated chromosome and the repetitive sequence distribution might be similar in different chromosomes within the St genome. However, the repetitive sequence distributions are different within the J(s genome, within a single chromosome, and among different genomes in Th. intermedium. Our results suggested that chromosome painting could be feasible in some plants and useful in detecting chromosome variation and repetitive sequence distribution in different genomes of polyploidy plants, which is helpful for understanding the evolution of

  17. Chromosome and genome size variation in Luzula (Juncaceae), a genus with holocentric chromosomes

    Czech Academy of Sciences Publication Activity Database

    Bozek, M.; Leitch, A. R.; Leitch, I. J.; Záveská Drábková, Lenka; Kuta, E.

    2012-01-01

    Roč. 170, č. 4 (2012), s. 529-541 ISSN 0024-4074 R&D Projects: GA ČR GP206/07/P147 Institutional support: RVO:67985939 Keywords : chromosomal evolution * endopolyploidy * holokinetic chromosome * karyotype evolution * tetraploides * centromeres * TRNF intergenic spacer Subject RIV: EF - Botanics Impact factor: 2.589, year: 2012

  18. Chromosomal geometry in the interface from the frequency of the radiation induced chromosome aberrations

    International Nuclear Information System (INIS)

    Nasazzi, N.; Otero, D.; Di Giorgio, M.

    1996-01-01

    Ionizing radiation induces DNA double-strand breaks (DSBs) and their interaction and illegitimate recombination produces chromosomal aberrations. Stable chromosomal aberrations comprise inter-chromosomal events (translocations) and intra-chromosomal events (inversions). When DSBs induction and interaction is done at random, and the proximity effects are neglected, the expected relation between translocations and inversions is F=86, based on chromosome arm length. The number of translocations and inversions is analyzed by using G-banding in 16 lymphocytes cultures from blood samples acutely irradiated with γ-rays (dose range: 0,5 Gy - 3 Gy). The result obtained was: F=13,5, significantly smaller than F=86. Literature data show similar small F values, but strongly spread. The excess of inversions could be explained by a 'proximity effect', it means that more proximate DSBs have more interaction probability. Therefore, it is possible to postulate a special chromosome arrangement during irradiation and the subsequent interval. We propose a model where individual chromosomes show spherical confinement with some degree of overlapping and DSBs induction proportional to cross section. A DSBs interaction probability function with cut-off length= 1μ is assumed. According to our results, the confinement volume is ≅ 6.4% of the nuclear volume. Nevertheless, we presume that large spread in F data could be due to temporal variation in overlapping and spatial chromosomal confinement. (authors). 14 refs

  19. Chromosome painting in biological dosimetry: Semi-automatic system to score stable chromosome aberrations

    International Nuclear Information System (INIS)

    Garcia-Sagredo, J.M.; Vallcorba, I.; Sanchez-Hombre, M.C.; Ferro, M.T.; San Roman Cos-Gayon, C.; Santos, A.; Malpica, N.; Ortiz, C.

    1997-01-01

    From the beginning of the description of the procedure of chromosome painting by fluorescence in situ hybridization (FISH), it was thought its possible application to score induced chromosomal aberrations in radiation exposition. With chromosome painting it is possible to detect changes between chromosomes that has been validated in radiation exposition. Translocation scoring by FISH, contrarily to the unstable dicentrics, mainly detect stable chromosome aberrations that do not disappear, it allows the capability of quantify delayed acute expositions or chronic cumulative expositions. The large number of cells that have to be analyzed for high accuracy, specially when dealing with low radiation doses, makes it almost imperative to use an automatic analysis system. After validate translocation scoring by FISH in our, we have evaluated the ability and sensitivity to detect chromosomal aberrations by chromosome using different paint probes used, showing that any combination of paint probes can be used to score induced chromosomal aberrations. Our group has developed a FISH analysis that is currently being adapted for translocation scoring analysis. It includes systematic error correction and internal control probes. The performance tests carried out show that 9,000 cells can be analyzed in 10 hr. using a Sparc 4/370. Although with a faster computer, a higher throughput is expected, for large population screening or very low radiation doses, this performance still has to be improved. (author)

  20. Unique mosaicism of structural chromosomal rearrangement: is chromosome 18 preferentially involved?

    NARCIS (Netherlands)

    Pater, J.M. de; Smeets, D.F.C.M.; Scheres, J.M.J.C.

    2003-01-01

    The mentally normal mother of a 4-year-old boy with del(18)(q21.3) syndrome was tested cytogenetically to study the possibility of an inherited structural rearrangement of chromosome 18. She was found to carry an unusual mosaicism involving chromosomes 18 and 21. Two unbalanced cell lines were seen