Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

Science.gov (United States)

Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahun, Ignasi; Pothion, Stéphanie; Karout, Mona; Borel, Christelle; Dembele, Doulaye; Bizot, Jean-Charles; Messaddeq, Nadia; Sharp, Andrew J; Roussel, Damien; Antonarakis, Stylianos E; Dierssen, Mara; Hérault, Yann

2015-03-01

The trisomy of human chromosome 21 (Hsa21), which causes Down syndrome (DS), is the most common viable human aneuploidy. In contrast to trisomy, the complete monosomy (M21) of Hsa21 is lethal, and only partial monosomy or mosaic monosomy of Hsa21 is seen. Both conditions lead to variable physiological abnormalities with constant intellectual disability, locomotor deficits, and altered muscle tone. To search for dosage-sensitive genes involved in DS and M21 phenotypes, we created two new mouse models: the Ts3Yah carrying a tandem duplication and the Ms3Yah carrying a deletion of the Hspa13-App interval syntenic with 21q11.2-q21.3. Here we report that the trisomy and the monosomy of this region alter locomotion, muscle strength, mass, and energetic balance. The expression profiling of skeletal muscles revealed global changes in the regulation of genes implicated in energetic metabolism, mitochondrial activity, and biogenesis. These genes are downregulated in Ts3Yah mice and upregulated in Ms3Yah mice. The shift in skeletal muscle metabolism correlates with a change in mitochondrial proliferation without an alteration in the respiratory function. However, the reactive oxygen species (ROS) production from mitochondrial complex I decreased in Ms3Yah mice, while the membrane permeability of Ts3Yah mitochondria slightly increased. Thus, we demonstrated how the Hspa13-App interval controls metabolic and mitochondrial phenotypes in muscles certainly as a consequence of change in dose of Gabpa, Nrip1, and Atp5j. Our results indicate that the copy number variation in the Hspa13-App region has a peripheral impact on locomotor activity by altering muscle function.

Quantitative multiparametric MRI in uveal melanoma: increased tumor permeability may predict monosomy 3

Energy Technology Data Exchange (ETDEWEB)

Kamrava, Mitchell; Wang, Pin-Chieh; Roberts, Kristofer; Demanes, D.J. [University of California Los Angeles, Department of Radiation Oncology, Los Angeles, CA (United States); Sepahdari, Ali R.; Leu, Kevin; Ellingson, Benjamin M. [University of California Los Angeles, Department of Radiological Sciences, Los Angeles, CA (United States); McCannel, Tara [University of California Los Angeles, Department of Ophthalmology, Los Angeles, CA (United States)

2015-08-15

Uveal melanoma is a rare intraocular tumor with heterogeneous biological behavior, and additional noninvasive markers that may predict outcome are needed. Diffusion- and perfusion-weighted imaging may prove useful but have previously been limited in their ability to evaluate ocular tumors. Our purpose was to show the feasibility and potential value of a multiparametric (mp-) MRI protocol employing state of the art diffusion- and perfusion-weighted imaging techniques. Sixteen patients with uveal melanoma were imaged with mp-MRI. Multishot readout-segmented echoplanar diffusion-weighted imaging, quantitative dynamic contrast-enhanced (DCE) MR perfusion imaging, and anatomic sequences were obtained. Regions of interest (ROIs) were drawn around tumors for calculation of apparent diffusion coefficient (ADC) and perfusion metrics (K{sup trans}, v{sub e}, k{sub ep}, and v{sub p}). A generalized linear fit model was used to compare various MRI values with the American Joint Commission on Cancer (AJCC) tumor group and monosomy 3 status with significance set at P < 0.05. mp-MRI was performed successfully in all cases. MRI tumor height (mean [standard deviation]) was 6.5 mm (3.0). ROI volume was 278 mm{sup 3} (222). ADC was 1.07 (0.27) x 10-3 mm{sup 2}/s. DCE metrics were K{sup trans} 0.085/min (0.063), v{sub e} 0.060 (0.052), k{sub ep} 1.20/min (0.32), and v{sub p} 1.48 % (0.82). Patients with >33 % monosomy 3 had higher K{sup trans} and higher v{sub e} values than those with disomy 3 or ≤33 % monosomy (P < 0.01). There were no significant differences between ADC (P = 0.07), k{sub ep} (P = 0.37), and v{sub p} with respect to monosomy 3. mp-MRI for ocular tumor imaging using multishot EPI DWI and quantitative DCE perfusion is technically feasible. mp-MRI may help predict monosomy 3 in uveal melanoma. (orig.)

ISOCHROMOSOME-18Q IN A GIRL WITH HOLOPROSENCEPHALY, DIGEORGE ANOMALY, AND STREAK OVARIES

NARCIS (Netherlands)

VANESSEN, AJ; SCHOOTS, CJF; VANLINGEN, RA; MOURITS, MJE; TUERLINGS, JHAM; LEEGTE, B

1993-01-01

We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double outlet right ventricle, DiGeorge anomaly and

Monosomy 3 by chromogenic in situ hybridization (CISH) in Iranian patients with uveal melanoma.

Science.gov (United States)

Naseripour, Masood; Mehrazma, Mitra; Pourmatin, Rama; Kashkouli, Mohsen Bahmani; Sedaghat, Ahad; Gheytanchi, Elmira

2015-01-01

The aim of this study was to investigate the rate of monosomy 3 by CISH technique in Iranian patients with uveal melanoma (UM) and its correlation with clinical and histopathological features. Archival formalin fixed, paraffin-embedded material from 50 patients who had undergone enucleation for large uveal melanomas was obtained. Monosomy of chromosome 3 alteration by chromogenic in situ hybridization (CISH) was investigated. Clinical and histopathological features of tumors were collected. The patients had a mean age of 56.6±7.6 years. Mean basal diameter and thickness of tumors were 14.1 mm and 10.2 mm, respectively. Four patients (8%) were identified to harbor monosomy of chromosome 3. In the mean follow-up of 5.3 years (range, 3.2-9.5 y), only one case with monosomy 3 died of UM metastasis. The most common type of cellularity was mixed cell (86%). There was not any statistically significant correlation between monosomy of chromosome 3 and type of cellularity, ciliary body involvement, and largest basal diameter. The low rate of monosomy chromosome 3 and the consequent low rate of mortality may be indicative of good prognosis in Iranian patients with uveal melanoma.

Monosomy 3 by FISH in uveal melanoma: variability in techniques and results.

Science.gov (United States)

Aronow, Mary; Sun, Yang; Saunthararajah, Yogen; Biscotti, Charles; Tubbs, Raymond; Triozzi, Pierre; Singh, Arun D

2012-09-01

Tumor monosomy 3 confers a poor prognosis in patients with uveal melanoma. We critically review the techniques used for fluorescence in situ hybridization (FISH) detection of monosomy 3 in order to assess variability in practice patterns and to explain differences in results. Significant variability that has likely affected reported results was found in tissue sampling methods, selection of FISH probes, number of cells counted, and the cut-off point used to determine monosomy 3 status. Clinical parameters and specific techniques employed to report FISH results should be specified so as to allow meta-analysis of published studies. FISH-based detection of monosomy 3 in uveal melanoma has not been performed in a standardized manner, which limits conclusions regarding its clinical utility. FISH is a widely available, versatile technology, and when performed optimally has the potential to be a valuable tool for determining the prognosis of uveal melanoma. Copyright © 2012 Elsevier Inc. All rights reserved.

Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.

Science.gov (United States)

Zamani, Ayse Gul; Acar, Aynur; Durakbasi-Dursun, Gul; Yildirim, M Selman; Ceylaner, Serdar; Tuncez, Ebru

2014-05-01

Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21 → qter and a deletion of p11.2 → pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. © 2014 Wiley Periodicals, Inc.

Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2

Energy Technology Data Exchange (ETDEWEB)

Matsuoka, Rumiko; Takao, Atsuyoshi; Kimura, Misa; Kondo, Chisato; Ando, Masahiko; Momma, Kazuo; Imamura, Shin-ichiro [Heart Institute, Tokyo (Japan); Joh-o, Kunitaka [Welfare Pension Hospital, Kyushu (Japan); Ikeda, Kazuo [Sapporo Medical Univ. (Japan); Nishibatake, Makoto [Kagoshima Seikyo Hospital (Japan)

1994-11-15

The so-called {open_quotes}conotruncal anomaly face syndrome{close_quotes} (CTAFS) is characterized by a peculiar facial appearance associated with congenital heart disease (CHD), especially cardiac outflow tract defects such as tetralogy of Fallot (TOF), double outlet ring ventricle (DORV), and truncus arteriosus (TAC). CTAFS and the DiGeorge anomaly (DGA) have many similar phenotypic characteristics, suggesting that they share a common cause. In many cases DGA is known to be associated with monosomy for a region of chromosome 22q11.2. Fifty CTAFS patients and 10 DGA patients, 11 parents couples and 10 mothers of CTAFS patients, and 3 parents couples and 2 mothers of DGA patients were examined by fluorescent in situ hybridization (FISH) using the N25 (D22S75) DGCR probe (Oncor). Monosomy for a region of 22q11.2 was found in 42 CTAFS, 9 DGA, 4 mothers, and 1 father who had CTAF without CHD. The remaining 8 CTAFS patients, 1 DGA patient and 1 mother who had questionable CTAF without CHD, showed no such chromosome abnormality. For the control, 60 patients who had CHD without CTAF or other know malformation syndromes were examined and had no deletion of 22q11.2. Therefore, we conclude that CTAFS is a part of the CATCH 22 syndrome; cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia (CATCH) resulting from 22q11.2 deletions. 20 refs., 3 figs., 2 tabs.

Trisomy 12p and monosomy 4p: phenotype-genotype correlation.

Science.gov (United States)

Benussi, Daniela Gambel; Costa, Paola; Zollino, Marcella; Murdolo, Marina; Petix, Vincenzo; Carrozzi, Marco; Pecile, Vanna

2009-04-01

4p Monosomy and 12p trisomy have been discussed and redefined along with recently reviewed chromosomal syndromes. 12p Trisomy syndrome is characterized by normal or increased birth weight, developmental delay with early hypotonia, psychomotor delay, and typical facial appearance. Most likely, the observed phenotypic variability depends on the type and extent of the associated partial monosomy. Partial deletions of the short arm of one chromosome 4 cause the Wolf-Hirschhorn syndrome (WHS). Affected patients present Greek helmet face, growth and mental retardation, hypotonia, and seizures. The combination of these characteristics constitutes the phenotypic core of WHS. We present a clinical and molecular cytogenetic characterization of a 4-year old mentally retarded girl with macrosomy, facial dysmorphisms, and epilepsy, in whom an unbalanced t(4;12)(p16.3;p13.3) translocation was detected, giving rise to partial 4p monosomy and partial 12p trisomy. Because the patient shows most of the phenotypic characteristics of 12p trisomy, this case could contribute to a better definition of the duplicate critical region that determines the phenotype of the 12p trisomy syndrome.

Case report of newborn with de novo partial trisomy 2q31.2–37.3 ...

Indian Academy of Sciences (India)

MAURIZIA COLANGELO

2018-02-24

Feb 24, 2018 ... Keywords. duplication of 2q31.2 and 2q37.3; monosomy 9p; array CGH. Introduction ... of gestation from a 39-year old Caucasian female. She is the second child of healthy and nonconsanguineous par- ents. She has a healthy ..... growth with intellectual disability, while duplications dis- tal to 2q33 show a ...

Noonan's and DiGeorge syndromes with monosomy 22q11.

OpenAIRE

Wilson, D I; Britton, S B; McKeown, C; Kelly, D; Cross, I E; Strobel, S; Scambler, P J

1993-01-01

A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome 22q11, the region deleted in DiGeorge syndrome. Thus this child has both Noonan's syndrome and DiGeorge syndrome; 22q11 is a candidate region for a gene defective in Noonan's syndrome.

[An updated review of 1p36 deletion (monosomy) syndrome].

Science.gov (United States)

Bello, Sabina; Rodríguez-Moreno, Antonio

The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, mandible hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level. Approximately 100 cases have been documented since 1981. This rare disease is the most common subtelomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

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

Science.gov (United States)

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

2016-01-01

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

Síndrome 18 q -heredado

Directory of Open Access Journals (Sweden)

Manuela Herrera Martínez

1997-08-01

Full Text Available Se presenta el hallazgo de una monosomía 18q-heredada por translocación materna (3q, 18q, en un niño de 4 años de edad con las características clínicas típicas, que presenta retraso mental y patrón dismórfico facial. Se realizó la correlación fenotipo-cariotipo, y el árbol genealógico de la familia. Se comparan los hallazgos del paciente con otros informados en la literatura médica y se enfatiza en el interés genético del estudio clínico y citogenético de los padres.It is presented the finding of an 18q-monosomy inherited by maternal translocation (3q, 18q in a 4-year-old boy with the typical clinical characteristics, that is, mental retardation and facial dysmorphia pattern. The phenotype-karyotype correlation and the pedigree were made. The patient's findings are compared with others reported in the medical literature, and the genetical interest of the clinical and cytogenetic study of the parents is emphasized.

De novo interstitial deletions of 9q22.1-22.3 in two unrelated cases with different phenotype

Energy Technology Data Exchange (ETDEWEB)

Mohamed, A.N.; Bawle, E.; Conard, J. [Wayne State Univ., Detroit, MI (United States)] [and others

1994-09-01

Deletions involving the long arm of chromosome 9 are rare. A recent review, particularly with deletions of 9q22-32 region, failed to recognize a distinct pattern of dysmorphies and malformations. Herein, we described two phenotypically abnormal unrelated cases with interstitial deletion of chromosome 9 at band q22.1-q22.3. Parents of both cases exhibited normal karyotypes, indicating that the deletions were de novo events. Therefore, the clinical features present in these two cases can be attributed to partial monosomy for the deleted band 9q22. The first case was a 2-day-old baby with ambiguous genitalia, hydrocephalus, cleft palate and lip, polycystic kidney, absence of uterus on ultrasound and one gonad in the labiosacral region. Chromosome analysis showed a male karyotype, 46,XY,del(9)(q22.1q22.3). The absence of monosomy X cell line and the normal histology of testicular tissue were against the diagnosis of mixed gonadal dysgenesis or XY gonadal dysgenesis. The second 3-day-old newborn baby girl presented with right side hypoplastic heart and pulmonary atresia. In addition, the patient showed multiple dysmorphic features including epicanthal fold, low-set ears, depressed nasal bridge, hypertelorism, and micrognathia. The uvula is absent with slight cleft palate. Bilateral clinodactyly of 5th fingers and severe club feet were also present. The external genitalia was of a normal female phenotype. Chromosome study also indicated interstatial deletion of band 9q22. Although both cases appeared to have the same chromosomal anomalies, neither a discrete facial appearance nor a common pattern of malformations was noted.

Agnathia-holoprosencephaly associated with a 46,XY,-21,+t(21q;21q) karyotype

Energy Technology Data Exchange (ETDEWEB)

Niedermeyer, K.K.; McCorquodale, M.M.; Burton, B.K. [Univ. of Illinois, Chicago, IL (United States)

1994-09-01

We report an unusual case of agnathia-holoprosencephaly associated with Down syndrome due to a 21/21 translocation. The patient presented prenatally at 21 wks gestation. A fetal ultrasound revealed multiple CNS anomalies including hydrocephalus, compressed cerebellum, absent septum pellucidum and possible cranial meningocele or encephalocele. High resolution ultrasound & fetal karyotype were recommended. The patient refused & elected to have a pregnancy termination. Chromosomal analysis performed on products of conception revealed a 46,XY,-21,+t(21q;21q) karyotype. Fluorescence in situ hybridization was performed and confirmed the 21/21 translocation chromosome. An autopsy revealed agnathia and multiple CNS anomalies including absence of the septum pellucidum, absence of the corpus callosum, arhinencephaly, an occiptal meningoencephalocele, dilation of the lateral ventricles, and extensive dysgenesis & heterotopias of the central cerebrum & mid-brain. Additional abnormalities included a persistent left superior vena cava, atrial & ventricular septal defects, irregular length of the fingers with absence of the middle phalanges of the right 2nd and 5th & left 5th digits and bilateral simian creases. Agnathia can be an isolated abnormality but often is associated with holoprosencephaly and/or situs inversus. The majority of familial case of agnathis-holoprosencephaly was caused by an inherited unbalanced translocation resulting in duplication of 6p and monosomy of 18p. Our patient had a translocation form of trisomy 21 but did not have a phenotype consistent with Down syndrome. Trisomy 21 has not been previously reported in other cases of agnathia-holoprosencephaly. Whether the chromosomal abnormality caused the phenotypic abnormalities or if it is a coincidental finding cannot be determined.

Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7.

Science.gov (United States)

O'Halloran, Katrina; Ritchey, A Kim; Djokic, Miroslav; Friehling, Erika

2017-07-01

Juvenile myelomonocytic leukemia (JMML) is a rare childhood neoplasm with poor prognosis except in the setting of Noonan syndrome, where prognosis is generally favorable. We present the case of a child with JMML in the setting of germline PTPN11 mutation and Noonan syndrome with suspected secondary development of monosomy 7 in the bone marrow. Diagnosed shortly after birth, she has been managed with active surveillance alone. Myeloblast percentages initially fluctuated; however, bone marrow biopsy at 4 years of age showed spontaneous remission despite persistence of the monosomy 7 clone, supporting a cautious approach in similar cases. © 2017 Wiley Periodicals, Inc.

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

Science.gov (United States)

Şimşek-Kiper, Pelin Özlem; Bayram, Yavuz; Ütine, Gülen Eda; Alanay, Yasemin; Boduroğlu, Koray

2014-01-01

Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical clinical features include facial dysmorphism, mild-to-moderate psychomotor retardation, trigonocephaly, cardiac defects, and thrombocytopenia. There is a significant variability in the range of clinical features. We report herein a five-year-old girl with severe ophthalmological findings, facial dysmorphism, and psychomotor retardation with normal platelet function, in whom a de novo 11q23 deletion was detected, suggesting that distal 11q monosomy should be kept in mind in patients presenting with dysmorphic facial features and psychomotor retardation even in the absence of hematological findings.

Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population.

Science.gov (United States)

Chen, Hongyan; Chen, Yuanyuan; Zhao, Yao; Fan, Weiwei; Zhou, Keke; Liu, Yanhong; Zhou, Liangfu; Mao, Ying; Wei, Qingyi; Xu, Jianfeng; Lu, Daru

2011-04-15

Two genome-wide association studies of glioma in European populations identified 14 genetic variants strongly associated with risk of glioma, but it is unknown whether these variants are associated with glioma risk in Asian populations. The authors genotyped these 14 variants in 976 glioma patients and 1,057 control subjects to evaluate their associations with risk of glioma, particularly high-grade glioma (glioblastoma; n = 312), in a Chinese population (2004-2009). Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (P = 2.79 × 10(-6))), 11q23.3 (PHLDB1 rs498872 (P = 3.8 × 10(-6))), and 5p15.33 (TERT rs2736100 (P = 3.69 × 10(-4))) in this study population; these loci were also associated with glioblastoma risk (20q13.33: RTEL1 rs6010620 (P = 3.57 × 10(-7)); 11q23.3: PHLDB1 rs498872 (P = 7.24 × 10(-3)); 5p15.33: TERT rs2736100 and TERT rs2736098 (P = 1.21 × 10(-4) and P = 2.84 × 10(-4), respectively)). This study provides further evidence for 3 glioma susceptibility regions at 20q13.33, 11q23.3, and 5p15.33 in Chinese populations.

Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21.

Science.gov (United States)

An, Qian; Wright, Sarah L; Moorman, Anthony V; Parker, Helen; Griffiths, Mike; Ross, Fiona M; Davies, Teresa; Harrison, Christine J; Strefford, Jon C

2009-08-01

The dic(9;20)(p11-13;q11) is a recurrent chromosomal abnormality in patients with acute lymphoblastic leukemia. Although it results in loss of material from 9p and 20q, the molecular targets on both chromosomes have not been fully elucidated. From an initial cohort of 58 with acute lymphoblastic leukemia patients with this translocation, breakpoint mapping with fluorescence in situ hybridization on 26 of them revealed breakpoint heterogeneity of both chromosomes. PAX5 has been proposed to be the target gene on 9p, while for 20q, FISH analysis implicated the involvement of the ASXL1 gene, either by a breakpoint within (n=4) or centromeric (deletion, n=12) of the gene. Molecular copy-number counting, long-distance inverse PCR and direct sequence analysis identified six dic(9;20) breakpoint sequences. In addition to the three previously reported: PAX5-ASXL1, PAX5-C20ORF112 and PAX5-KIF3B; we identified three new ones in this study: sequences 3' of PAX5 disrupting ASXL1, and ZCCHC7 disrupted by sequences 3' of FRG1B and LOC1499503. This study provides insight into the breakpoint complexity underlying dicentric chromosomal formation in acute lymphoblastic leukemia and highlights putative target gene loci.

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Directory of Open Access Journals (Sweden)

Lall Meena

2011-09-01

Full Text Available Abstract Background Partial Trisomy 11q syndrome (or Duplication 11q has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD. Deletion 1q44 (or Monosomy 1q44 is a well-defined syndrome, but there is controversy about the genes lying in 1q44 region, responsible for agenesis of the corpus callosum. We report a female child with the rare Partial Trisomy 11q syndrome and Deletion 1q44 syndrome. The genomic imbalance in the proband was used for molecular characterization of the critical genes in 1q44 region for agenesis of corpus callosum. Some genes in 11q14q25 may be responsible for laryngomalacia. Results We report a female child with dysmorphic features, microcephaly, growth retardation, seizures, acyanotic heart disease, and hand and foot deformities. She had agenesis of corpus callosum, laryngomalacia, anterior ectopic anus, esophageal reflux and respiratory distress. Chromosome analysis revealed a derivative chromosome 1. Her karyotype was 46,XX,der(1t(1;11(q44;q14pat. The mother had a normal karyotype and the karyotype of the father was 46,XY,t(1;11(q44;q14. SNP array analysis showed that the proband had a 54 Mb duplication of 11q14q25 and a 0.9 Mb deletion of the submicroscopic subtelomeric 1q44 region. Fluorescence Insitu Hybridisation confirmed the duplication of 11qter and deletion of 1qter. Conclusion Laryngomalacia or obstruction of the upper airway is the outcome of increased dosage of some genes due to Partial Trisomy 11q Syndrome. In association with other phenotypic features, agenesis of corpus callosum appears to be a landmark phenotype for Deletion 1q44 syndrome, the critical genes lying proximal to SMYD3 in 1q44 region.

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

Science.gov (United States)

Jurkiewicz, Dorota; Kugaudo, Monika; Tańska, Anna; Wawrzkiewicz-Witkowska, Angelika; Tomaszewska, Agnieszka; Kucharczyk, Marzena; Cieślikowska, Agata; Ciara, Elżbieta; Krajewska-Walasek, Małgorzata

2015-06-01

Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligation-dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. © 2015 Japan Pediatric Society.

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

DEFF Research Database (Denmark)

Avila, Magali; Kirchhoff, Eva Maria; Marle, Nathalie

2013-01-01

We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display common clinical features including metopic ridg...

[Effectiveness of azacitidine in chronic myelomonocytic leukemia harboring del(20q) - a case report].

Science.gov (United States)

Manabe, Masahiro; Okita, Junya; Takakuwa, Teruhito; Harada, Naonori; Aoyama, Yasutaka; Kumura, Takeo; Ohta, Tadanobu; Furukawa, Yoshio; Mugitani, Atsuko

2014-06-01

A 7 1-year-old man was admitted to our hospital with leukocytosis and anemia. Chronic myelomonocytic leukemia (CMML)harboring del(20q)was diagnosed by peripheral blood examination and bone marrow aspiration. The patient was subsequently treated with azacitidine, which resulted in rapid disappearance of monocytosis and resolved his dependency on red cell transfusion. With regard to the chromosomal abnormality, although del(20q)is estimated to be encountered in approximately 0.7-1.0% of all CMML cases, its significance in prognosis has not been fully analyzed. Hence, more such cases need to be evaluated to elucidate the therapeutic outcome of CMML involving del(20q). In addition, the Wilms tumor-1(WT 1)level in the patient gradually decreased after the initiation of azacitidine therapy. This phenomenon of WT1 decrease synchronizing with the patient's clinical improvement might reflect therapeutic efficacy with regard to the clinical course, as had been observed in acute myeloid leukemia and myelodysplastic syndrome.

Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

Directory of Open Access Journals (Sweden)

Meck Jeanne M

2006-01-01

Full Text Available Abstract Background Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. Case Presentation A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia, developmental delay, hypopigmented macules, short 5th fingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence in situ hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13t(13;16(q33;p13.3]. Specific BAC-probes were used to confirm the extent of the 13q deletion. Conclusion This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.

Renal cell carcinoma and a constitutional t(11;22)(q23;q11.2): case report and review of the potential link between the constitutional t(11;22) and cancer.

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Doyen, Jérôme; Carpentier, Xavier; Haudebourg, Juliette; Hoch, Benjamin; Karmous-Benailly, Houda; Ambrosetti, Damien; Fabas, Thibault; Amiel, Jean; Lambert, Jean-Claude; Pedeutour, Florence

2012-11-01

We observed a t(11;22)(q23-24;q11.2-12) and monosomy 3 in renal tumor cells from a 72-year-old man. The hypothesis of a primitive peripheral neuroectodermal tumor (PPNET) located in the kidney was promptly excluded: Histologically, the tumor was a clear cell renal cell carcinoma (RCC) and we did not observe an EWSR1 gene rearrangement. The constitutional origin of this alteration was established. We report on the second case of RCC in a patient with a constitutional t(11;22). The t(11;22)(q23;q11.2) is the main recurrent germline translocation in humans. Unbalanced translocation can be transmitted to the progeny and can cause Emanuel syndrome. Our observation alerts cancer cytogeneticists to the fortuitous discovery of the constitutional t(11;22) in tumor cells. This translocation appears grossly similar to the t(11;22)(q24;q12) of PPNET and should be evoked if present in all cells of a tumor other than PPNET. This is important when providing appropriate genetic counseling. Moreover, the potential oncogenic role of the t(11;22) and its predisposing risk of cancer are under debate. The family history of the patient revealed a disabled brother who died at an early age from colon cancer and a sister with breast cancer. This observation reopens the issue of a link between the constitutional t(11;22) and cancer, and the utility of cancer prevention workups for t(11;22) carriers. Copyright © 2012 Elsevier Inc. All rights reserved.

Gain of chromosomal region 20q and loss of 18 discriminates between Lynch syndrome and familial colorectal cancer

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Therkildsen, Christina; Jönsson, Göran; Dominguez-Valentin, Mev

2013-01-01

Lynch syndrome and familial colorectal cancer type X, FCCTX, represent the two predominant colorectal cancer syndromes. Whereas Lynch syndrome is clinically and genetically well defined, the genetic cause of FCCTX is unknown and genomic differences between Lynch syndrome and FCCTX tumours...... are largely unknown. We applied array-based comparative genomic hybridisation to 23 colorectal cancers from FCCTX with comparison to 23 Lynch syndrome tumours and to 45 sporadic colorectal cancers. FCCTX tumours showed genomic complexity with frequent gains on chromosomes 20q, 19 and 17 and losses of 18, 8p...... and 15. Gain of genetic material in two separate regions encompassing, 20q12-13.12 and 20q13.2-13.32, was identified in 65% of the FCCTX tumours. Gain of material on chromosome 20q and loss on chromosome 18 significantly discriminated colorectal cancers associated with FCCTX from Lynch syndrome, which...

Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.

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Barbi, G; Kennerknecht, I; Wöhr, G; Avramopoulos, D; Karadima, G; Petersen, M B

2000-03-13

We report on a mentally retarded child with multiple minor anomalies and an unusually rearranged chromosome 21. This der(21) chromosome has a deletion of 21p and of proximal 21q, whereas the main portion of 21q is duplicated leading to a mirror-symmetric appearance with the mirror axis at the breakpoint. The centromere is only characterized by a secondary constriction (with a centromeric index of a G chromosome) at an unexpected distal position, but fluorescence in situ hybridization (FISH) with either chromosome specific or with all human centromeres alpha satellite DNA shows no cross hybridization. Thus, the marker chromosome represents a further example of an "analphoid marker with neocentromere." Molecular analysis using polymorphic markers on chromosome 21 verified a very small monosomic segment of the proximal long arm of chromosome 21, and additionally trisomy of the remaining distal segment. Although trisomic for almost the entire 21q arm, our patient shows no classical Down syndrome phenotype, but only a few minor anomalies found in trisomy 21 and in monosomy of proximal 21q, respectively. Copyright 2000 Wiley-Liss, Inc.

Central diabetes insipidus: an unusual complication in a child with juvenile myelomonocytic leukemia and monosomy 7.

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Surapolchai, Pacharapan; Ha, Shau-Yin; Chan, Godfrey Chi-Fung; Lukito, Johannes B; Wan, Thomas S K; So, Chi-Chiu; Chiang, Alan Kwok-Shing

2013-03-01

Central diabetes insipidus (DI) is well-documented as a presenting feature of myelodysplastic syndrome and acute myeloid leukemia in adults. However, DI is unusual in pediatric patients with myeloid malignancies. We report here this rare complication in a child with neurofibromatosis type 1 who developed juvenile myelomonocytic leukemia and monosomy 7. Our case and previously reported cases of DI arising as a complication in myeloid malignancies demonstrate a close association with deletion of chromosome 7. The clinical characteristics and outcomes of these uncommon cases in children are reviewed and discussed.

Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q.

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Marinovic-Terzic, Ivana; Yoshioka-Yamashita, Atsuko; Shimodaira, Hideki; Avdievich, Elena; Hunton, Irina C; Kolodner, Richard D; Edelmann, Winfried; Wang, Jean Y J

2008-09-16

Mismatch repair (MMR) corrects replication errors during DNA synthesis. The mammalian MMR proteins also activate cell cycle checkpoints and apoptosis in response to persistent DNA damage. MMR-deficient cells are resistant to cisplatin, a DNA cross-linking agent used in chemotherapy, because of impaired activation of apoptotic pathways. It is shown that postmeiotic segregation 2 (PMS2), an MMR protein, is required for cisplatin-induced activation of p73, a member of the p53 family of transcription factors with proapoptotic activity. The human PMS2 is highly polymorphic, with at least 12 known nonsynonymous codon changes identified. We show here that the PMS2(R20Q) variant is defective in activating p73-dependent apoptotic response to cisplatin. When expressed in Pms2-deficient mouse fibroblasts, human PMS2(R20Q) but not PMS2 interfered with the apoptotic response to cisplatin. Correspondingly, PMS2 but not PMS2(R20Q) enhanced the cytotoxic effect of cisplatin measured by clonogenic survival. Because PMS2(R20Q) lacks proapoptotic activity, this polymorphic allele may modulate tumor responses to cisplatin among cancer patients.

Syntenic homology of human unique DNA sequences within chromossome regions 5q31, 10q22, 13q32-33 and 19q13.1 in the great apes

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Rhea U. Vallente-Samonte

2000-09-01

Full Text Available Homologies between chromosome banding patterns and DNA sequences in the great apes and humans suggest an apparent common origin for these two lineages. The availability of DNA probes for specific regions of human chromosomes (5q31, 10q22, 13q32-33 and 19q13.1 led us to cross-hybridize these to chimpanzee (Pan troglodytes, PTR, gorilla (Gorilla gorilla, GGO and orangutan (Pongo pygmaeus, PPY chromosomes in a search for equivalent regions in the great apes. Positive hybridization signals to the chromosome 5q31-specific DNA probe were observed at HSA 5q31, PTR 4q31, GGO 4q31 and PPY 4q31, while fluorescent signals using the chromosome 10q22-specific DNA probe were noted at HSA 10q22, PTR 8q22, GGO 8q22 and PPY 7q22. The chromosome arms showing hybridization signals to the Quint-EssentialTM 13-specific DNA probe were identified as HSA 13q32-33, PTR 14q32-33, GGO 14q32-33 and PPY 14q32-33, while those presenting hybridization signals to the chromosome 19q13.1-specific DNA probe were identified as HSA 19q13.1, PTR 20q13, GGO 20q13 and PPY 20q13. All four probes presumably hybridized to homologous chromosomal locations in the apes, which suggests a homology of certain unique DNA sequences among hominoid species.Homologias entre os padrões de bandamento de cromossomos e seqüências de DNA em grandes macacos e humanos sugerem uma aparente origem comum para estas duas linhagens. A disponibilidade de sondas de DNA para regiões específicas de cromossomos humanos (5q31, 10q22, 13q32-33 e 19q13.1 nos levou a realizar hibridação cruzada com cromossomos de chimpanzé (Pan troglodytes, PTR, gorila (Gorilla gorilla, GGO e orangotango (Pongo pygmaeus, PPY em um pesquisa de regiões equivalentes em grandes macacos. Sinais positivos de hibridação para a sonda de DNA específica para o cromossomo 5q31 foram observados em HSA 5q31, PTR 4q31, GGO 4q31 e PPY 4q31, enquanto que sinais fluorescentes usando a sonda de DNA específica para o cromossomo 10q22 foram

Cytogenetically Unrelated Clones in Acute Myeloid Leukemia Showing Different Responses to Chemotherapy

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Kohei Kasahara

2016-01-01

Full Text Available We report a case of acute myeloid leukemia (AML with two cytogenetically unrelated clones. The patient was a 45-year-old male who was diagnosed with acute monoblastic leukemia (AMoL. Initial G-band analysis showed 51,XY,+6,+8,inv(9(p12q13c,+11,+13,+19[12]/52,idem,+Y[8], but G-band analysis after induction therapy showed 45,XY,-7,inv(9(p12q13c[19]/46,XY,inv(9(p12q13c[1]. Retrospective FISH analysis revealed a cryptic monosomy 7 clone in the initial AML sample. The clone with multiple trisomies was eliminated after induction therapy and never recurred, but a clone with monosomy 7 was still detected in myelodysplastic marrow with a normal blast percentage. Both clones were successfully eliminated after related peripheral blood stem cell transplantation, but the patient died of relapsed AML with monosomy 7. We concluded that one clone was de novo AMoL with chromosome 6, 8, 11, 13, and 19 trisomy and that the other was acute myeloid leukemia with myelodysplasia-related changes　(AML-MRC with chromosome 7 monosomy showing different responses to chemotherapy. Simultaneous onset of cytogenetically unrelated hematological malignancies that each have a different disease status is a rare phenomenon but is important to diagnose for a correct understanding of the disease status and for establishing an appropriate treatment strategy.

Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome

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Asou, Hiroya; Matsui, Hirotaka; Ozaki, Yuko; Nagamachi, Akiko; Nakamura, Megumi; Aki, Daisuke [Department of Molecular Oncology and Leukemia Program Project, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553 (Japan); Inaba, Toshiya, E-mail: tinaba@hiroshima-u.ac.jp [Department of Molecular Oncology and Leukemia Program Project, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553 (Japan)

2009-05-29

Monosomy 7 and interstitial deletions in the long arm of chromosome 7 (-7/7q-) is a common nonrandom chromosomal abnormality found frequently in myeloid disorders including acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML). Using a short probe-based microarray comparative genomic hybridization (mCGH) technology, we identified a common microdeletion cluster in 7q21.3 subband, which is adjacent to 'hot deletion region' thus far identified by conventional methods. This common microdeletion cluster contains three poorly characterized genes; Samd9, Samd9L, and a putative gene LOC253012, which we named Miki. Gene copy number assessment of three genes by real-time PCR revealed heterozygous deletion of these three genes in adult patients with AML and MDS at high frequency, in addition to JMML patients. Miki locates to mitotic spindles and centrosomes and downregulation of Miki by RNA interference induced abnormalities in mitosis and nuclear morphology, similar to myelodysplasia. In addition, a recent report indicated Samd9 as a tumor suppressor. These findings indicate the usefulness of the short probe-based CGH to detect microdeletions. The three genes located to 7q21.3 would be candidates for myeloid tumor-suppressor genes on 7q.

Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact.

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Bacher, Ulrike; Haferlach, Torsten; Schnittger, Susanne; Zenger, Melanie; Meggendorfer, Manja; Jeromin, Sabine; Roller, Andreas; Grossmann, Vera; Krauth, Maria-Theresa; Alpermann, Tamara; Kern, Wolfgang; Haferlach, Claudia

2014-03-01

In patients with myelodysplastic syndromes (MDS), sole 20q deletion [del(20q)] is a recurrent favourable abnormality. We studied additional molecular and cytogenetic lesions and their prognostic impact in 305 MDS patients with del(20q) (229 males/76 females; 29-90 years). All patients were investigated by cytomorphology and chromosome banding analysis (CBA), subsets by fluorescence in situ hybridization, molecular mutation screening, and array comparative genomic hybridization (aCGH). By aCGH (n = 30), the minimal common deleted region (CDR) was flanked by PTPRT (20q13·11) and EYA2 (20q13·12). 210 (68·9%) patients had 'early MDS' without blast increase, 95 (31·1%) 'advanced' MDS with blast increase (5-19%). Additional chromosomal abnormalities (ACAs) were detected in 88/305 (28·9%) patients. Patients with advanced MDS more frequently had ACAs (P = 0·003) and had a higher mean number of ACAs (P = 0·020) and of molecular mutations (P = 0·060). Spliceosome mutations were frequent (U2AF1: n = 31/155; 20·0%; SRSF2: n = 31/159; 19·5%; SF3B1mut: n = 8/159; 5·0%). ASXL1mut (25/153; 16·3%) were associated with advanced MDS (P = 0·001). Presence of ≥3 ACAs (P = 0·003) and ASXL1mut (P = 0·002) were associated with worse 2-year survival. In conclusion, the cytogenetic subgroup of MDS with del(20q) has a good prognosis but may be further subclassified by additional cytogenetic and molecular lesions. U2AF1mut is overrepresented in MDS with del(20q), and ASXL1mut is prognostically adverse. © 2013 John Wiley & Sons Ltd.

Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3).

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Hodge, J C; Lawson-Yuen, A; Stoler, J M; Ligon, A H

2007-01-01

We report a newborn male with multiple congenital anomalies including growth retardation, hypotonia, dysmorphic facies, widely-spaced nipples, micropenis, cryptorchidism, optic nerve hypoplasia, heart disease, and a striking, high-pitched cry. Chromosome analysis revealed de novo partial trisomy 11q due to a der(5)t(5;11)(p15.3;q22). Fluorescence in situ hybridization (FISH) showed loss of the 5p telomere signal on the der(5) chromosome, indicating the infant has partial monosomy 5p in addition to partial trisomy 11q. Among cases involving trisomy 11q, an unusual cry has only been documented in the presence of a der(5)t(5p;11q). This apparent dependence of the abnormal cry on monosomy 5p suggested the same genetic mechanism that occurs in Cri du chat syndrome (CDCS) may be responsible for the atypical cry in der(5)t(5p;11q) individuals. Neither a commercial CDCS probe (LSI D5S23, D5S721) nor a series of BAC clones encompassing distal regions implicated in the CDCS-associated cat-cry were deleted in our patient. These results suggest a second cry-modifying locus maps telomeric to BAC RP11-94J21 in band 5p15.33. This locus may not only cause the abnormal cry in individuals with a der(5)t(5p;11q) but could also contribute to the phenotypic variability and discordant mapping studies observed for CDCS. Copyright (c) 2007 S. Karger AG, Basel.

Clinico-Pathological Association of Delineated miRNAs in Uveal Melanoma with Monosomy 3/Disomy 3 Chromosomal Aberrations.

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Nalini Venkatesan

Full Text Available To correlate the differentially expressed miRNAs with clinico-pathological features in uveal melanoma (UM tumors harbouring chromosomal 3 aberrations among South Asian Indian cohort.Based on chromosomal 3 aberration, UM (n = 86 were grouped into monosomy 3 (M3; n = 51 and disomy 3 (D3; n = 35 by chromogenic in-situ hybridisation (CISH. The clinico-pathological features were recorded. miRNA profiling was performed in formalin fixed paraffin embedded (FFPE UM samples (n = 6 using Agilent, Human miRNA microarray, 8x15KV3 arrays. The association between miRNAs and clinico-pathological features were studied using univariate and multivariate analysis. miRNA-gene targets were predicted using Target-scan and MiRanda database. Significantly dys-regulated miRNAs were validated in FFPE UM (n = 86 and mRNAs were validated in frozen UM (n = 10 by qRT-PCR. Metastasis free-survival and miRNA expressions were analysed by Kaplen-Meier analysis in UM tissues (n = 52.Unsupervised analysis revealed 585 differentially expressed miRNAs while supervised analysis demonstrated 82 miRNAs (FDR; Q = 0.0. Differential expression of 8 miRNAs: miR-214, miR-149*, miR-143, miR-146b, miR-199a, let7b, miR-1238 and miR-134 were studied. Gene target prediction revealed SMAD4, WISP1, HIPK1, HDAC8 and C-KIT as the post-transcriptional regulators of miR-146b, miR-199a, miR-1238 and miR-134. Five miRNAs (miR-214, miR146b, miR-143, miR-199a and miR-134 were found to be differentially expressed in M3/ D3 UM tumors. In UM patients with liver metastasis, miR-149* and miR-134 expressions were strongly correlated.UM can be stratified using miRNAs from FFPE sections. miRNAs predicting liver metastasis and survival have been identified. Mechanistic linkage of de-regulated miRNA/mRNA expressions provide new insights on their role in UM progression and aggressiveness.

A histone map of human chromosome 20q13.12.

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Pelin Akan

Full Text Available We present a systematic search for regulatory elements in a 3.5 Mb region on human chromosome 20q13.12, a region associated with a number of medical conditions such as type II diabetes and obesity.We profiled six histone modifications alongside RNA polymerase II (PolII and CTCF in two cell lines, HeLa S3 and NTERA-2 clone D1 (NT2/D1, by chromatin immunoprecipitation using an in-house spotted DNA array, constructed with 1.8 kb overlapping plasmid clones. In both cells, more than 90% of transcription start sites (TSSs of expressed genes showed enrichments with PolII, di-methylated lysine 4 of histone H3 (H3K4me2, tri-methylated lysine 4 of histone H3 (H3K4me3 or acetylated H3 (H3Ac, whereas mono-methylated lysine 4 of histone H3 (H3K4me1 signals did not correlate with expression. No TSSs were enriched with tri-methylated lysine 27 of histone H3 (H3K27me3 in HeLa S3, while eight TSSs (4 expressed showed enrichments in NT2/D1. We have also located several CTCF binding sites that are potential insulator elements.In summary, we annotated a number of putative regulatory elements in 20q13.12 and went on to verify experimentally a subset of them using dual luciferase reporter assays. Correlating this data to sequence variation can aid identification of disease causing variants.

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

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

2016-12-10

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

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

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Siddiq, Afshan; Couch, Fergus J.; Chen, Gary K.; Lindström, Sara; Eccles, Diana; Millikan, Robert C.; Michailidou, Kyriaki; Stram, Daniel O.; Beckmann, Lars; Rhie, Suhn Kyong; Ambrosone, Christine B.; Aittomäki, Kristiina; Amiano, Pilar; Apicella, Carmel; Baglietto, Laura; Bandera, Elisa V.; Beckmann, Matthias W.; Berg, Christine D.; Bernstein, Leslie; Blomqvist, Carl; Brauch, Hiltrud; Brinton, Louise; Bui, Quang M.; Buring, Julie E.; Buys, Saundra S.; Campa, Daniele; Carpenter, Jane E.; Chasman, Daniel I.; Chang-Claude, Jenny; Chen, Constance; Clavel-Chapelon, Françoise; Cox, Angela; Cross, Simon S.; Czene, Kamila; Deming, Sandra L.; Diasio, Robert B.; Diver, W. Ryan; Dunning, Alison M.; Durcan, Lorraine; Ekici, Arif B.; Fasching, Peter A.; Feigelson, Heather Spencer; Fejerman, Laura; Figueroa, Jonine D.; Fletcher, Olivia; Flesch-Janys, Dieter; Gaudet, Mia M.; Gerty, Susan M.; Rodriguez-Gil, Jorge L.; Giles, Graham G.; van Gils, Carla H.; Godwin, Andrew K.; Graham, Nikki; Greco, Dario; Hall, Per; Hankinson, Susan E.; Hartmann, Arndt; Hein, Rebecca; Heinz, Judith; Hoover, Robert N.; Hopper, John L.; Hu, Jennifer J.; Huntsman, Scott; Ingles, Sue A.; Irwanto, Astrid; Isaacs, Claudine; Jacobs, Kevin B.; John, Esther M.; Justenhoven, Christina; Kaaks, Rudolf; Kolonel, Laurence N.; Coetzee, Gerhard A.; Lathrop, Mark; Le Marchand, Loic; Lee, Adam M.; Lee, I-Min; Lesnick, Timothy; Lichtner, Peter; Liu, Jianjun; Lund, Eiliv; Makalic, Enes; Martin, Nicholas G.; McLean, Catriona A.; Meijers-Heijboer, Hanne; Meindl, Alfons; Miron, Penelope; Monroe, Kristine R.; Montgomery, Grant W.; Müller-Myhsok, Bertram; Nickels, Stefan; Nyante, Sarah J.; Olswold, Curtis; Overvad, Kim; Palli, Domenico; Park, Daniel J.; Palmer, Julie R.; Pathak, Harsh; Peto, Julian; Pharoah, Paul; Rahman, Nazneen; Rivadeneira, Fernando; Schmidt, Daniel F.; Schmutzler, Rita K.; Slager, Susan; Southey, Melissa C.; Stevens, Kristen N.; Sinn, Hans-Peter; Press, Michael F.; Ross, Eric; Riboli, Elio; Ridker, Paul M.; Schumacher, Fredrick R.; Severi, Gianluca; dos Santos Silva, Isabel; Stone, Jennifer; Sund, Malin; Tapper, William J.; Thun, Michael J.; Travis, Ruth C.; Turnbull, Clare; Uitterlinden, Andre G.; Waisfisz, Quinten; Wang, Xianshu; Wang, Zhaoming; Weaver, JoEllen; Schulz-Wendtland, Rüdiger; Wilkens, Lynne R.; Van Den Berg, David; Zheng, Wei; Ziegler, Regina G.; Ziv, Elad; Nevanlinna, Heli; Easton, Douglas F.; Hunter, David J.; Henderson, Brian E.; Chanock, Stephen J.; Garcia-Closas, Montserrat; Kraft, Peter; Haiman, Christopher A.; Vachon, Celine M.

2012-01-01

Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 × 10-5 in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 × 10−8) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 × 10–6) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 × 10−9), and with both ER-positive (OR = 1.09; P = 1.5 × 10−5) and ER-negative (OR = 1.16, P = 2.5 × 10−7) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci. PMID:22976474

Properties of ΣQ*, ΞQ* and ΩQ* heavy baryons in cold nuclear matter

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Azizi, K.; Er, N.

2018-02-01

The in-medium properties of the heavy spin-3/2 ΣQ*, ΞQ* and ΩQ* baryons with Q being b or c quark are investigated. The shifts in some spectroscopic parameters of these particles due to the saturated cold nuclear matter are calculated. The variations of those parameters with respect to the changes in the density of the cold nuclear medium are studied, as well. It is observed that the parameters of ΣQ* baryons are considerably affected by the nuclear matter compared to the ΞQ* and ΩQ* particles that roughly do not see the medium. The results obtained may be used in analyses of the data to be provided by the in-medium experiments like PANDA.

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.

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Ryan N Traylor

Full Text Available BACKGROUND: Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features. METHODOLOGY/PRINCIPAL FINDINGS: We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental retardation, developmental delay, speech and language deficits, seizures, and behavior problems such as autistic spectrum disorder. There does not appear to be a clinically recognizable constellation of dysmorphic features among individuals with subtelomeric 20q microdeletions. CONCLUSIONS/SIGNIFICANCE: Based on genotype-phenotype correlation among individuals in this and previous studies, we discuss several possible candidate genes for specific clinical features, including ARFGAP1, CHRNA4 and KCNQ2 and neurodevelopmental deficits. Deletion of this region may play an important role in cognitive development.

Decitabine improves progression-free survival in older high-risk MDS patients with multiple autosomal monosomies: results of a subgroup analysis of the randomized phase III study 06011 of the EORTC Leukemia Cooperative Group and German MDS Study Group.

Science.gov (United States)

Lübbert, Michael; Suciu, Stefan; Hagemeijer, Anne; Rüter, Björn; Platzbecker, Uwe; Giagounidis, Aristoteles; Selleslag, Dominik; Labar, Boris; Germing, Ulrich; Salih, Helmut R; Muus, Petra; Pflüger, Karl-Heinz; Schaefer, Hans-Eckart; Bogatyreva, Lioudmila; Aul, Carlo; de Witte, Theo; Ganser, Arnold; Becker, Heiko; Huls, Gerwin; van der Helm, Lieke; Vellenga, Edo; Baron, Frédéric; Marie, Jean-Pierre; Wijermans, Pierre W

2016-01-01

In a study of elderly AML patients treated with the hypomethylating agent decitabine (DAC), we noted a surprisingly favorable outcome in the (usually very unfavorable) subgroup with two or more autosomal monosomies (MK2+) within a complex karyotype (Lübbert et al., Haematologica 97:393-401, 2012). We now analyzed 206 myelodysplastic syndrome (MDS) patients (88 % of 233 patients randomized in the EORTC/GMDSSG phase III trial 06011, 61 of them with RAEBt, i.e. AML by WHO) with cytogenetics informative for MK status.. Endpoints are the following: complete/partial (CR/PR) and overall response rate (ORR) and progression-free (PFS) and overall survival (OS). Cytogenetic subgroups are the following: 63 cytogenetically normal (CN) patients, 143 with cytogenetic abnormalities, 73 of them MK-negative (MK-), and 70 MK-positive (MK+). These MK+ patients could be divided into 17 with a single autosomal monosomy (MK1) and 53 with at least two monosomies (MK2+). ORR with DAC in CN patients: 36.1 %, in MK- patients: 16.7 %, in MK+ patients: 43.6 % (MK1: 44.4 %, MK2+ 43.3 %). PFS was prolonged by DAC compared to best supportive care (BSC) in the CN (hazard ratio (HR) 0.55, 99 % confidence interval (CI), 0.26; 1.15, p = 0.03) and MK2+ (HR 0.50; 99 % CI, 0.23; 1.06, p = 0.016) but not in the MK-, MK+, and MK1 subgroups. OS was not improved by DAC in any subgroup. In conclusion, we demonstrate for the first time in a randomized phase III trial that high-risk MDS patients with complex karyotypes harboring two or more autosomal monosomies attain encouraging responses and have improved PFS with DAC treatment compared to BSC.

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.

Science.gov (United States)

Gibson, Christopher E; Boodhansingh, Kara E; Li, Changhong; Conlin, Laura; Chen, Pan; Becker, Susan A; Bhatti, Tricia; Bamba, Vaneeta; Adzick, N Scott; De Leon, Diva D; Ganguly, Arupa; Stanley, Charles A

2018-06-14

Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children's Hospital of Philadelphia (CHOP) between 1974 and 2017. Records of girls with hyperinsulinism and Turner syndrome were reviewed. Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome. Hyperinsulinism was diagnosed in 12 girls with Turner syndrome. Six were diazoxide-unresponsive; 3 had pancreatectomies. The incidence of Turner syndrome among CHOP patients with hyperinsulinism (10 of 1,050 from 1997 to 2017) was 48 times more frequent than expected. The only consistent chromosomal anomaly in these girls was the presence of a 45,X cell line. Studies of isolated islets from 1 case showed abnormal elevated cytosolic calcium and heightened sensitivity to amino acid-stimulated insulin release; similar alterations were demonstrated in mouse islets treated with a KDM6A inhibitor. These results demonstrate a higher than expected frequency of Turner syndrome among children with hyperinsulinism. Our data suggest that haploinsufficiency for KDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome. © 2018 S. Karger AG, Basel.

Cryptorchidism due to chromosome 5q inversion duplication.

Science.gov (United States)

Dutta, M K; Gundgurthi, A; Garg, M K; Pakhetr, R

2013-12-01

We present a 15 year old boy who was born out of a non consanguineous marriage, and presented with bilateral cryptorchidism, mental retardation, facial dysmorphism, hypergonadotrophic hypogonadism with failure of anatomical and biochemical localisation of testes. Karyotype analysis showed 46 XY with inverted duplication on chromosome 5q22-31.

Translocation (16;20)(p11.2;q13). sole cytogenetic abnormality in a unicameral bone cyst.

Science.gov (United States)

Richkind, Kathleen E; Mortimer, Errol; Mowery-Rushton, Patricia; Fraire, Armando

2002-09-01

We report the results of cytogenetic analysis of a case of unicameral bone cyst with a t(16;20(p11.2;q13) present as the sole abnormality. To our knowledge, this is only the second report of a cytogenetically characterized tumor of this type.

Chromosomal amplifications, 3q gain and deletions of 2q33-q37 are the frequent genetic changes in cervical carcinoma

International Nuclear Information System (INIS)

Rao, Pulivarthi H; Murty, Vundavalli VVS; Arias-Pulido, Hugo; Lu, Xin-Yan; Harris, Charles P; Vargas, Hernan; Zhang, Fang F; Narayan, Gopeshwar; Schneider, Achim; Terry, Mary Beth

2004-01-01

Carcinoma of uterine cervix is the second most common cancers among women worldwide. Combined radiation and chemotherapy is the choice of treatment for advanced stages of the disease. The prognosis is poor, with a five-year survival rate ranging from about 20–65%, depending on stage of the disease. Therefore, genetic characterization is essential for understanding the biology and clinical heterogeneity in cervical cancer (CC). We used a genome-wide screening method – comparative genomic hybridization (CGH) to identify DNA copy number changes in 77 patients with cervical cancer. We applied categorical and survival analyses to analyze whether chromosomal changes were related to clinico-pathologic characteristics and patients survival. The CGH analysis revealed a loss of 2q33-q37 (57.1%), gain of 3q (54.5%) and chromosomal amplifications (20.77%) as frequent genetic changes. A total of 15 amplified chromosomal sites were detected in 16 cases that include 1p31, 2q32, 7q22, 8q21.2-q24, 9p22, 10q21, 10q24, 11q13, 11q21, 12q15, 14q12, 17p11.2, 17q22, 18p11.2, and 19q13.1. Recurrent amplified sites were noted at 11q13, 11q21, and 19q13.1. The genomic alterations were further evaluated for prognostic significance in CC patients, and we did not find any correlation with a number of clinical or histological parameters. The tumors harboring HPV18 exhibited higher genomic instability compared to tumors with HPV 16. This study demonstrated that 2q33-q37 deletions, 3q gains and chromosomal amplifications as characteristic changes in invasive CC. These genetic alterations will aid in the identification of novel tumor suppressor gene(s) at 2q33-q37 and oncogenes at amplified chromosomal sites. Molecular characterization of these chromosomal changes utilizing the current genomic technologies will provide new insights into the biology and clinical behavior of CC

Water-soluble coenzyme Q10 formulation (Q-TER(®)) in the treatment of presbycusis.

Science.gov (United States)

Salami, Angelo; Mora, Renzo; Dellepiane, Massimo; Manini, Giorgio; Santomauro, Valentina; Barettini, Luciano; Guastini, Luca

2010-10-01

These preliminary data are encouraging for a larger clinical trial to collect additional evidence on the effect of Q-TER(®) in preventing the development of hearing loss in subjects with presbycusis. The purpose of this study was to evaluate the efficiency and applicability of a water-soluble formulation of CoQ10 (Q-TER(®)) in subjects with presbycusis. A total of 60 patients with presbycusis were included and divided into three numerically equal groups. Group A underwent therapy with Q-TER(®), 160 mg, once a day for 30 days; group B underwent therapy with vitamin E (50 mg), once a day for 30 days; group C received placebo, once a day for 30 days. Before and at the end of the treatment, all patients underwent pure tone audiometry, transient evoked otoacoustic emissions, otoacoustic products of distortion, auditory brainstem response, and speech audiometry. Compared with group B, at the end of the treatment in group A the liminar tonal audiometry showed a significant improvement of the air and bone thresholds at the 1000 (14/20 vs 9/20), 2000 (14/20 vs 7/20), 4000 (15/20 vs 6/20), and 8000 Hz (13/20 vs 5/20). We found no significant differences in the other parameters and in group C.

The figure of the villain Samaritan in the Qur´an: Q. 20:87-99

DEFF Research Database (Denmark)

Sabih, Joshua

The figure of the villain Samaritan in the Qur´an Q. 20:87-99 In the Qur´anic text, reference to other “mock texts” is re-presented through transtextual relations. In the several accounts about Moses and the sons of Israel, one accounts stands out, namely the account in the mekkan sura 20: 4...... reconstruction of the figure of the Samaritan the basis of two conflicting mock “narratives/texts”. Mock texts, in this context, do not necessarily stand for the Jewish and Samaritan canonised narratives about each group´s genealogy....

The co-presence of deletion 7q, 20q and inversion 16 in therapy-related acute myeloid leukemia developed secondary to treatment of breast cancer with cyclophosphamide, doxorubicin, and radiotherapy: a case report

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Yonal Ipek

2012-02-01

Full Text Available Abstract Introduction Therapy-related acute myeloid leukemia occurs as a complication of treatment with chemotherapy, radiotherapy, immunosuppressive agents or exposure to environmental carcinogens. Case presentation We report a case of therapy-related acute myeloid leukemia in a 37-year-old Turkish woman in complete remission from breast cancer. Our patient presented to our facility with fatigue, fever, sore throat, peripheral lymphadenopathy, and moderate hepatosplenomegaly. On peripheral blood and bone marrow aspirate smears, monoblasts were present. Immunophenotypic analysis of the bone marrow showed expression of CD11b, CD13, CD14, CD15, CD33, CD34, CD45 and human leukocyte antigen-DR, findings compatible with the diagnosis of acute monoblastic leukemia (French-American-British classification M5a. Therapy-related acute myeloid leukemia developed three years after adjuvant chemotherapy consisting of an alkylating agent, cyclophosphamide and DNA topoisomerase II inhibitor, doxorubicin and adjuvant radiotherapy. Cytogenetic analysis revealed a 46, XX, deletion 7 (q22q34, deletion 20 (q11.2q13.1 karyotype in five out of 20 metaphases and inversion 16 was detected by fluorescence in situhybridization. There was no response to chemotherapy (cytarabine and idarubicin, FLAG-IDA protocol, azacitidine and our patient died in the 11th month after diagnosis. Conclusions The median survival in therapy-related acute myeloid leukemia is shorter compared to de novoacute myeloid leukemia. Also, the response to therapy is poor. In therapy-related acute myeloid leukemia, complex karyotypes have been associated with abnormalities of chromosome 5, rather than 7. To the best of our knowledge, this is the first case of therapy-related acute myeloid leukemia showing the co-presence of deletion 7q, 20q and the inversion 16 signal.

Protective Effect of Coenzyme Q10 on Methamphetamine-Induced Apoptosis in Adult Male Rats

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Fatemeh Gholipour

2017-06-01

Full Text Available Background: The negative consequence of methamphetamine abuse is due to neuropathologic changes in the brain, which reduces dopaminergic neurons and result in damage to different brain areas. Neurotoxicity induced by methamphetamine increases the oxidative stress and associated with neuronal apoptosis. The role of the antioxidant coenzyme Q10 probably produces its neuroprotective effects. Therefore, the purpose of the present study was to examine the protective effect of coenzyme Q10 on methamphetamine-induced apoptosis in adult male rats.Materials and Methods: Fifty Wistar eight-week adult rats randomly divided into 5 groups: Healthy control, methamphetamine injection (Meth, methamphetamine injection and CoQ10 5mg/kg treatment (Meth+Post CoQ10 5mg/kg, methamphetamine injection and CoQ10 10mg/kg treatment (Meth+Post CoQ10 10mg/kg, methamphetamine injection and CoQ10 20mg/kg treatment (Meth+Post CoQ10 20mg/kg. Methamphetamine with a purity of 96% with a dosage of 20 mg/kg was injected Intraperitoneal. Coenzyme Q10 for three treatment groups was injected intraperitoneally for 14 days in a dosage of 5, 10 and 20 mg/kg/day. The protein expressions of Baxand Bcl2 were evaluated by western blotting technique.Results: Bax protein expression was significantly lower in Meth+Post CoQ10 5mg/kg (p=0.010 and so Meth+Post CoQ10 10mg/kg (p=0.004 comparing to Meth group. In addition, Bcl2 protein expression was significantly higher in Meth+Post CoQ10 5mg/kg comparing to Meth group (p=0.018. However, there were no significant differences between control and CoQ10 treatment groups. Bax/Bcl2 ratio was significantly lower in Meth+Post CoQ10 5mg/kg (p=0.005, Meth+Post CoQ10 10mg/kg (p=0.008 and Meth+Post CoQ10 20mg/kg (p=0.044 comparing to Meth group.Conclusion: We suggest that CoQ10 reduces the methamphetamine-induced apoptosis in the striatum of the rats through the reduction of apoptotic factors and increase of anti-apoptotic pathways.

Methotrexate/6-mercaptopurine maintenance therapy influences the risk of a second malignant neoplasm after childhood acute lymphoblastic leukemia: results from the NOPHO ALL-92 study

DEFF Research Database (Denmark)

Schmiegelow, Kjeld; Al-Modhwahi, Ibrahim; Andersen, Mette Klarskov

2009-01-01

Among 1614 children with acute lymphoblastic leukemia (ALL) treated with the Nordic Society for Paediatric Haematology and Oncology (NOPHO) ALL-92 protocol, 20 patients developed a second malignant neoplasm (SMN) with a cumulative risk of 1.6% at 12 years from the diagnosis of ALL. Nine of the 16...... acute myeloid leukemias or myelodysplastic syndromes had monosomy 7 (n = 7) or 7q deletions (n = 2). In Cox multivariate analysis, longer duration of oral 6-mercaptopurine (6MP)/methotrexate (MTX) maintenance therapy (P = .02; longest for standard-risk patients) and presence of high hyperdiploidy (P...

[Distribution of abnormal cell clone with deletion of chromosome 20q in marrow cell lineages and apoptosis cells in myelodysplastic syndrome].

Science.gov (United States)

Qin, Ling; Wang, Chun; Qin, You-Wen; Xie, Kuang-Cheng; Yan, Shi-Ke; Gao, Yan-Rong; Wang, Xiao-Rui; Zhao, Chu-Xian

2008-06-01

This study was aimed to investigate the distribution of abnormal clone in marrow cell lineages and apoptosis cells in myelodysplastic syndrome (MDS) with deletion of chromosome 20q. Monoclonal antibodies recognizing myeloid precursors (CD15), erythroid precursors (GPA), T cells (CD3(+)CD56(-)CD16(-)), B cells (CD19), NK cells (CD3(-)CD56(+)CD16(+)) were used to sort bone marrow cells in a MDS patient with del (20q) by fluorescence activated cell sorting (FACS). Annexin V-FITC and PI were used to sort bone marrow Annexin V(+)PI(-) and Annexin V(-)PI(-) cells by FACS. The sorted positive cells were detected by interphase dual-color fluorescence in situ hybridization (D-FISH) using a LSI D20S108 probe (Spectrum Orange) and a Telvysion TM 20p probe (Spectrum Green). FACS and FISH analysis were also performed on the samples from 4 cases with normal karyotype. The results showed that the proportions of MDS clone in the myeloid and erythroid precursors were 70.50% and 93.33% respectively, in the RAEB-1 patient with del (20q) and were obviously higher than that in control group (5.39% and 6.17%). The proportions of abnormal clone in T, B and NK cells were 3.23%, 4.32% and 5.77% respectively and were less than that in control group (5.76%, 4.85%, 6.36%). The percentage of apoptotic cells in the bone marrow nucleated cells was 16.09%. The proportions of MDS clone in Annexin V(+)PI(-) and Annexin V(-)PI(-) cells were 32.48% and 70.11%, respectively. It is concluded that most myeloid and erythroid precursors are originated from the abnormal clone in MDS with del (20q). A little part of apoptotic cells are derived from the abnormal clone.

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.

Nanosecond Q-switched operation of coupled Yb and Tm fibre lasers

Energy Technology Data Exchange (ETDEWEB)

Tsang, Yuen H [Laser Photonics Research Group, School of Physics and Astronomy, University of Manchester, Manchester M13 9PL (United Kingdom); Qamar, Fadi [Laser Photonics Research Group, School of Physics and Astronomy, University of Manchester, Manchester M13 9PL (United Kingdom); King, Terence A [Laser Photonics Research Group, School of Physics and Astronomy, University of Manchester, Manchester M13 9PL (United Kingdom); Ko, Do-Kyeong [Advanced Photonics Research Institute, Gwangju Institute of Science and Technology, 1 Oryong-dong, Buk-Gu, Gwangju 500-712 (Korea, Republic of); Lee, Jongmin [Advanced Photonics Research Institute, Gwangju Institute of Science and Technology, 1 Oryong-dong, Buk-Gu, Gwangju 500-712 (Korea, Republic of)

2005-05-07

A small scale coupled Yb-silica and Tm-silica fibre laser system is described with output at 1.9 {mu}m and with Q-switching using an acousto-optic modulator and also by mechanical optical modulation. The Yb-fibre laser pump source exhibited strong self-pulsation with high-intensity pulses due to stimulated Brillouin scattering. But regular Q-switched pulses were generated from the Tm-fibre laser with an energy of {approx}2.4 {mu}J and duration (FWHM) of {approx}280 ns for modulation frequencies of 1-20 kHz when using acousto-optic modulation. The main effects that limit the Q-switched pulse peak power are the onset of gain-switched pulsing during the low-Q state and strong pump excited state absorption.

Open-flavor charm and bottom s q q ¯ Q ¯ and q q q ¯ Q ¯ tetraquark states

Science.gov (United States)

Chen, Wei; Chen, Hua-Xing; Liu, Xiang; Steele, T. G.; Zhu, Shi-Lin

2017-06-01

We provide comprehensive investigations for the mass spectrum of exotic open-flavor charmed/bottom s q q ¯ c ¯ , q q q ¯ c ¯ , s q q ¯ b ¯ , q q q ¯ b ¯ tetraquark states with various spin-parity assignments JP=0+,1+,2+ and 0- , 1- in the framework of QCD sum rules. In the diquark configuration, we construct the diquark-antidiquark interpolating tetraquark currents using the color-antisymmetric scalar and axial-vector diquark fields. The stable mass sum rules are established in reasonable parameter working ranges, which are used to give reliable mass predictions for these tetraquark states. We obtain the mass spectra for the open-flavor charmed/bottom s q q ¯c ¯, q q q ¯c ¯, s q q ¯b ¯, q q q ¯b ¯ tetraquark states with various spin-parity quantum numbers. In addition, we suggest searching for exotic doubly-charged tetraquarks, such as [s d ][u ¯ c ¯ ]→Ds(*)-π- in future experiments at facilities such as BESIII, BelleII, PANDA, LHCb, and CMS, etc.

Theory and experimental verifications of the resonator Q and equivalent electrical parameters due to viscoelastic and mounting supports losses.

Science.gov (United States)

Yong, Yook-Kong; Patel, Mihir S; Tanaka, Masako

2010-08-01

A novel analytical/numerical method for calculating the resonator Q and its equivalent electrical parameters due to viscoelastic, conductivity, and mounting supports losses is presented. The method presented will be quite useful for designing new resonators and reducing the time and costs of prototyping. There was also a necessity for better and more realistic modeling of the resonators because of miniaturization and the rapid advances in the frequency ranges of telecommunication. We present new 3-D finite elements models of quartz resonators with viscoelasticity, conductivity, and mounting support losses. The losses at the mounting supports were modeled by perfectly matched layers (PMLs). A previously published theory for dissipative anisotropic piezoelectric solids was formulated in a weak form for finite element (FE) applications. PMLs were placed at the base of the mounting supports to simulate the energy losses to a semi-infinite base substrate. FE simulations were carried out for free vibrations and forced vibrations of quartz tuning fork and AT-cut resonators. Results for quartz tuning fork and thickness shear AT-cut resonators were presented and compared with experimental data. Results for the resonator Q and the equivalent electrical parameters were compared with their measured values. Good equivalences were found. Results for both low- and high-Q AT-cut quartz resonators compared well with their experimental values. A method for estimating the Q directly from the frequency spectrum obtained for free vibrations was also presented. An important determinant of the quality factor Q of a quartz resonator is the loss of energy from the electrode area to the base via the mountings. The acoustical characteristics of the plate resonator are changed when the plate is mounted onto a base substrate. The base affects the frequency spectra of the plate resonator. A resonator with a high Q may not have a similarly high Q when mounted on a base. Hence, the base is an

Bindi tattoo on forehead: success with modified R-20 technique using low fluence q-switched nd yag laser: a case report.

Science.gov (United States)

Zawar, Vijay; Sarda, Aarti; De, Abhishek

2014-01-01

Bindi tattoo on the forehead, is one of the cultural practice in Indian women from rural areas. Many patients are not pleased with the appearance of their tattoo and thus seek removal. The development of quality-switched lasers has revolutionized the removal of unwanted tattoos. However, despite multiple treatment sessions, the efficacy is often found to be limited. We herein report a case of green-blue bindi tattoo which failed to clear after 8 sessions of Q-switched Nd YAG laser. The tattoo significantly cleared with R-20 method using low fluence Q-switched Nd YAG Laser. R-20 technique seems to be an effective method of tattoo removal and might be a boon for patients who are reluctant to pursue laser treatment because of fear of expenditure, side effects and uncertainty of result. We report efficacy of R-20 technique for a bindi tattoo on forehead.

Decitabine improves progression-free survival in older high-risk MDS patients with multiple autosomal monosomies: results of a subgroup analysis of the randomized phase III study 06011 of the EORTC Leukemia Cooperative Group and German MDS Study Group

NARCIS (Netherlands)

Lubbert, M.; Suciu, S.; Hagemeijer, A.; Ruter, B.; Platzbecker, U.; Giagounidis, A.; Selleslag, D.; Labar, B.; Germing, U.; Salih, H.R.; Muus, P.; Pfluger, K.H.; Schaefer, H.E.; Bogatyreva, L.; Aul, C.; Witte, T.J.M. de; Ganser, A.; Becker, H.; Huls, G.A.; Helm, L. van der; Vellenga, E.; Baron, F.; Marie, J.P.; Wijermans, P.W.; Group, E.L.; German, M.D.S.S.G. the

2016-01-01

In a study of elderly AML patients treated with the hypomethylating agent decitabine (DAC), we noted a surprisingly favorable outcome in the (usually very unfavorable) subgroup with two or more autosomal monosomies (MK2+) within a complex karyotype (Lubbert et al., Haematologica 97:393-401, 2012).

Translocations (5;17) and (7;17) in patients with de novo or therapy-related myelodysplastic syndromes or acute nonlymphocytic leukemia. A possible association with acquired pseudo-Pelger-Hut anomaly and small vacuolated granulocytes

International Nuclear Information System (INIS)

La, J.L.Z.; Zandecki, M.; Fenaux, P.; Le Baron, F.; Bauters, F.; Cosson, A.; Deminatti, M.

1990-01-01

Twelve patients [two with de novo myelodysplastic syndrome (MDS), four with secondary MDS, five with de novo acute nonlymphocytic leukemia (ANLL), one with secondary ANLL] showed a 17p deletion resulting from translocations involving 17p: t(5;17)(p11;p11) in four cases, t(7;17)(p11;p11) in six cases, complex (5;17)(q23;p12) translocation with dicentric chromosome in one case, and t(17;?)(p11-12;?) in the remaining patient. All these structural anomalies were observed in hypodiploid clones associated with total or partial monosomy of chromosomes 5 and 7 (12 cases), monosomy 12 (five cases), monosomy 3 (four cases), and monosomy 4 (three cases). Median survival was only 3.3 months (range 3 days to 8 months). Striking features were observed in bone marrow mature granulocytes: all but one case had a pseudo-Pelger-Hut anomaly in a significant number of granulocytes, and eight patients had granulocytes with reduced size and clear cytoplasmic vacuoles. Careful cytological review of 51 patients with MDS or ANLL and various cytogenetic anomalies was performed for comparison: vacuolated granulocytes were a very uncommon finding. On the other hand, eight patients had a pseudo-Pelger-Hut anomaly, which correlated significantly with total monosomy 17 in these patients. A possible correlation between cytological anomalies and cytogenetic data is discussed, and the role of 17p in the nuclear segmentation of granulocytes is stressed

Q → qZ decays at Tevatron and SSC energies

International Nuclear Information System (INIS)

Agrawal, P.; Ellis, S.D.

1990-09-01

The possible existence of a new heavy quark Q that decays predominantly via the flavor changing neutral current transition Q → qZ is discussed. Candidates include a fourth generation charge -- 1/3 quark, or a more exotic vector-like quark. Such particles are interesting both as extensions of the Standard Model and due to their unique decay modes. The primary experimental indication of the pair production and subsequent decay of quarks is ZZ pair production at an essentially strong interaction rate. This mode can then constitute an unexpected background to the searches for other particles. In particular the channel Q bar Q → ZZ + X can generate a serious background to the search for the Higgs boson via the H 0 → ZZ mode at the SSC. Thus it is essential to search for such new heavy quarks at the Tevatron. Possible detection signatures for this purpose are discussed. 24 refs. , 1 fig., 3 tabs

Search of type 2 diabetes susceptibility gene on chromosome 20q

International Nuclear Information System (INIS)

Takeuchi, F.; Yanai, K.; Inomata, H.; Kuzuya, N.; Kajio, H.; Honjo, S.; Takeda, N.; Kaburagi, Y.; Yasuda, K.; Shirasawa, S.; Sasazuki, T.; Kato, N.

2007-01-01

Significant evidence of linkage to type 2 diabetes (T2D) has been shown in a relatively broad region on chromosome 20q, where the hepatocyte nuclear factor-4α (HNF4A) has been noted as a positional candidate. To systematically evaluate genetic susceptibility to T2D in the relevant region, we examined the disease association by using 1145 SNPs in two-step screening in the Japanese population. The marker screening enabled us to identify significant disease association in the lipopolysaccharide binding protein (LBP) but not in the HNF4A locus. In a 17.7-Mb interval screened, the strongest association was identified for a SNP, rs2232592, located in the intron of LBP, with an estimated odds ratio of 1.73 (95% CI 1.30-2.31) (P 0.0002) in the whole study panel involving 675 case and 474 control subjects. Our data suggest that the LBP gene may confer genetic susceptibility to T2D and this warrants further replication study

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

Directory of Open Access Journals (Sweden)

Kristen Dilzell

2015-01-01

Full Text Available This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

Allogeneic stem cell transplantation in adult patients with acute myeloid leukaemia and 17p abnormalities in first complete remission: a study from the Acute Leukemia Working Party (ALWP) of the European Society for Blood and Marrow Transplantation (EBMT).

Science.gov (United States)

Poiré, Xavier; Labopin, Myriam; Maertens, Johan; Yakoub-Agha, Ibrahim; Blaise, Didier; Ifrah, Norbert; Socié, Gérard; Gedde-Dhal, Tobias; Schaap, Nicolaas; Cornelissen, Jan J; Vigouroux, Stéphane; Sanz, Jaime; Michaux, Lucienne; Esteve, Jordi; Mohty, Mohamad; Nagler, Arnon

2017-01-18

Acute myeloid leukaemia (AML) with 17p abnormalities (abn(17p)) carries a very poor prognosis due to high refractoriness to conventional chemotherapy, and allogeneic stem cell transplantation (allo-SCT) appears as the only potential curative option. To address outcomes after allo-SCT in patients with abn(17p), we retrospectively analysed de novo or secondary AML undergoing SCT between 2000 and 2013 from the EBMT registry. One hundred thirty-nine patients with confirmed abn(17p) have been selected. At the time of transplant, one hundred twenty-five were in first remission (CR1). Median age was 54 years old. Abn(17p) was associated with a monosomal karyotype in 83% of patients, complex karyotype in 91%, monosomy 5 or 5q deletion (-5/5q-) in 55%, monosomy 7 (-7) in 39% and both -5/5q and -7 in 27%. Seventy-three patients (59%) had a reduced-intensity conditioning regimen. The 2-year overall survival (OS) and leukaemia-free survival (LFS) were 28 and 24%, respectively. The 2-year non-relapse mortality (NRM) was 15%, and 2-year relapse incidence (RI) was 61%. The cumulative incidence of grade II to IV acute graft-versus-host disease (GvHD) was 24% and that of chronic GvHD was 21%. In multivariate analysis, the presence of a -5/5q- in addition to abn(17p) was significantly and independently associated with worse OS, LFS and higher RI. Age and donor types did not correlate with outcome. Conditioning intensity was not statistically associated with OS, LFS and NRM when adjusted for patients' age. In contrast to the dismal prognosis reported for AML patients harbouring abn(17p) undergoing conventional chemotherapy, allogeneic SCT provides responses in about 25% of those patients transplanted in CR1.

q-Karamata functions and second order q-difference equations

Czech Academy of Sciences Publication Activity Database

Řehák, Pavel; Vítovec, J.

-, č. 24 (2011), s. 1-20 ISSN 1417-3875 Institutional research plan: CEZ:AV0Z10190503 Keywords : regularly varying functions * rapidly varying functions * q-difference equations Subject RIV: BA - General Mathematics Impact factor: 0.557, year: 2011

Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.

Science.gov (United States)

Bartocci, Arnaldo; Striano, Pasquale; Mancardi, Maria Margherita; Fichera, Marco; Castiglia, Lucia; Galesi, Ornella; Michelucci, Roberto; Elia, Maurizio

2008-06-01

Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new epilepsy genes. We describe a female patient with intractable focal epilepsy, borderline intellectual functioning, and facial dysmorphisms, in whom genetic study (i.e., karyotype and array-CGH analysis) revealed a distal trisomy 4p and distal monosomy Xq. Although any genetic hypothesis remains speculative, several genes are located in the 4p chromosome segment involved in the rearrangement, some of which may be related to epilepsy.

A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome.

Directory of Open Access Journals (Sweden)

Joel Frohlich

Full Text Available Duplications of 15q11.2-q13.1 (Dup15q syndrome are highly penetrant for autism spectrum disorder (ASD. A distinct electrophysiological (EEG pattern characterized by excessive activity in the beta band has been noted in clinical reports. We asked whether EEG power in the beta band, as well as in other frequency bands, distinguished children with Dup15q syndrome from those with non-syndromic ASD and then examined the clinical correlates of this electrophysiological biomarker in Dup15q syndrome.In the first study, we recorded spontaneous EEG from children with Dup15q syndrome (n = 11, age-and-IQ-matched children with ASD (n = 10 and age-matched typically developing (TD children (n = 9 and computed relative power in 6 frequency bands for 9 regions of interest (ROIs. Group comparisons were made using a repeated measures analysis of variance. In the second study, we recorded spontaneous EEG from a larger cohort of individuals with Dup15q syndrome (n = 27 across two sites and examined age, epilepsy, and duplication type as predictors of beta power using simple linear regressions.In the first study, spontaneous beta1 (12-20 Hz and beta2 (20-30 Hz power were significantly higher in Dup15q syndrome compared with both comparison groups, while delta (1-4 Hz was significantly lower than both comparison groups. Effect sizes in all three frequency bands were large (|d| > 1. In the second study, we found that beta2 power was significantly related to epilepsy diagnosis in Dup15q syndrome.Here, we have identified an electrophysiological biomarker of Dup15q syndrome that may facilitate clinical stratification, treatment monitoring, and measurement of target engagement for future clinical trials. Future work will investigate the genetic and neural underpinnings of this electrophysiological signature as well as the functional consequences of excessive beta oscillations in Dup15q syndrome.

Direct determination of k Q factors for cylindrical and plane-parallel ionization chambers in high-energy electron beams from 6 MeV to 20 MeV

Science.gov (United States)

Krauss, A.; Kapsch, R.-P.

2018-02-01

For the ionometric determination of the absorbed dose to water, D w, in high-energy electron beams from a clinical accelerator, beam quality dependent correction factors, k Q, are required. By using a water calorimeter, these factors can be determined experimentally and potentially with lower standard uncertainties than those of the calculated k Q factors, which are tabulated in various dosimetry protocols. However, one of the challenges of water calorimetry in electron beams is the small measurement depths in water, together with the steep dose gradients present especially at lower energies. In this investigation, water calorimetry was implemented in electron beams to determine k Q factors for different types of cylindrical and plane-parallel ionization chambers (NE2561, NE2571, FC65-G, TM34001) in 10 cm  ×  10 cm electron beams from 6 MeV to 20 MeV (corresponding beam quality index R 50 ranging from 1.9 cm to 7.5 cm). The measurements were carried out using the linear accelerator facility of the Physikalisch-Technische Bundesanstalt. Relative standard uncertainties for the k Q factors between 0.50% for the 20 MeV beam and 0.75% for the 6 MeV beam were achieved. For electron energies above 8 MeV, general agreement was found between the relative electron energy dependencies of the k Q factors measured and those derived from the AAPM TG-51 protocol and recent Monte Carlo-based studies, as well as those from other experimental investigations. However, towards lower energies, discrepancies of up to 2.0% occurred for the k Q factors of the TM34001 and the NE2571 chamber.

Direct determination of k Q factors for cylindrical and plane-parallel ionization chambers in high-energy electron beams from 6 MeV to 20 MeV.

Science.gov (United States)

Krauss, A; Kapsch, R-P

2018-02-06

For the ionometric determination of the absorbed dose to water, D w , in high-energy electron beams from a clinical accelerator, beam quality dependent correction factors, k Q , are required. By using a water calorimeter, these factors can be determined experimentally and potentially with lower standard uncertainties than those of the calculated k Q factors, which are tabulated in various dosimetry protocols. However, one of the challenges of water calorimetry in electron beams is the small measurement depths in water, together with the steep dose gradients present especially at lower energies. In this investigation, water calorimetry was implemented in electron beams to determine k Q factors for different types of cylindrical and plane-parallel ionization chambers (NE2561, NE2571, FC65-G, TM34001) in 10 cm  ×  10 cm electron beams from 6 MeV to 20 MeV (corresponding beam quality index R 50 ranging from 1.9 cm to 7.5 cm). The measurements were carried out using the linear accelerator facility of the Physikalisch-Technische Bundesanstalt. Relative standard uncertainties for the k Q factors between 0.50% for the 20 MeV beam and 0.75% for the 6 MeV beam were achieved. For electron energies above 8 MeV, general agreement was found between the relative electron energy dependencies of the k Q factors measured and those derived from the AAPM TG-51 protocol and recent Monte Carlo-based studies, as well as those from other experimental investigations. However, towards lower energies, discrepancies of up to 2.0% occurred for the k Q factors of the TM34001 and the NE2571 chamber.

Graphene-PVA saturable absorber for generation of a wavelength-tunable passively Q-switched thulium-doped fiber laser in 2.0 µm

Science.gov (United States)

Ahmad, H.; Samion, M. Z.; Sharbirin, A. S.; Norizan, S. F.; Aidit, S. N.; Ismail, M. F.

2018-05-01

Graphene, a 2D material, has been used for generation of pulse lasers due to the presence of its various fascinating optical properties compared to other materials. Hence in this paper, we report the first demonstration of a thulium doped fiber laser with a wavelength-tunable, passive Q-switched output using a graphene-polyvinyl-alcohol composite film for operation in the 2.0 µm region. The proposed laser has a wavelength-tunable output spanning from 1932.0 nm to 1946.0 nm, giving a total tuning range of 14.0 nm. The generated pulse has a maximum repetition rate and average output power of 36.29 kHz and 0.394 mW at the maximum pump power of 130.87 mW, as well as a pulse width of 6.8 µs at this pump power. The generated pulses have a stable output, having a signal-to-noise ratio of 31.75 dB, and the laser output is stable when tested over a period of 60 min. The proposed laser would have multiple applications for operation near the 2.0 micron region, especially for bio-medical applications and range-finding.

Improved extraction of two-photon exchange amplitudes from elastic electron-proton scattering cross section data up to Q2=5.20 (GeV/c ) 2

Science.gov (United States)

Qattan, I. A.; Homouz, D.; Riahi, M. K.

2018-04-01

In this work, we improve on and extend to low- and high-Q2 values the extractions of the two-photon-exchange (TPE) amplitudes and the ratio Pl/PlBorn(ɛ ,Q2) using world data on electron-proton elastic scattering cross section σR(ɛ ,Q2) with an emphasis on data covering the high-momentum region, up to Q2=5.20 (GeV/c ) 2 , to better constrain the TPE amplitudes in this region. We provide a new parametrization of the TPE amplitudes, along with an estimate of the fit uncertainties. We compare the results to several previous phenomenological extractions and hadronic TPE predictions. We use the new parametrization of the TPE amplitudes to extract the ratio Pl/PlBorn(ɛ ,Q2) , and then compare the results to previous extractions, several theoretical calculations, and direct measurements at Q2=2.50 (GeV/c ) 2 .

Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.

Science.gov (United States)

Zech, J C; Morlé, L; Vincent, P; Alloisio, N; Bozon, M; Gonnet, C; Milazzo, S; Grange, J D; Trepsat, C; Godet, J; Plauchu, H

1999-05-01

It has been previously described that Wagner disease is linked to chromosome 5q13-q14. This study was carried out to describe the ophthalmological aspects and report the results of genetic linkage analysis in a large pedigree affected by Wagner disease. Fourty members of one same family agreed to be examined. Twenty patients presented vitreoretinal degeneration in both eyes without any extra-ocular abnormalities. In young patients, visual acuity was usually normal after correction of frequent mild myopia. Presenile cataracts progressed by the third decade and required removal for visual rehabilitation. The primary disorder involved an abnormal vitreous. A few avascular vitreous bands were usually the only optical feature in the mostly empty vitreous cavity. A circumferential vitreous condensation formed in contact with the retina on many spots. Less common retinal findings included retinal detachment, abnormal retinal pigmentation, progressive atrophy of the RPE simulating choroideremia and lattice degeneration. Genetic analysis revealed a highly significant linkage (lod score >5.0) between the disease and 10 markers of the chromosome 5q13-q14 region. Two recombination events allowed us to refine the linked interval to 20 cM between the D5S650 and D5S618 markers. Ophthalmological aspects of Wagner's disease appear to progress with age. Regular ophthalmological examination is important for detecting retinal abnormalities. The gene involved in Wagner's disease lies in a 20 cM interval on chromosome 5q13-q14.

Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report

Science.gov (United States)

Mazzaschi, Roberto L. P.; Love, Donald R.; Hayes, Ian; George, Alice

2011-01-01

An amniotic fluid sample from an in vitro fertilized pregnancy was referred for cytogenetic analysis based on a Down syndrome screening risk of 1 : 21. Routine cytogenetic analysis showed a nonmosaic karyotype of 46,XX,r(21)(p11.2q22.3), with partial monosomy for chromosome 21 due to a ring chromosome replacing one of the normal homologues. Detailed ultrasound scanning for the remainder of the pregnancy did not reveal any unusual findings. Parental bloods showed that the mother was mosaic for the ring 21 with a karyotype of 46,XX,r(21)(p11.2q22.3)/46,XX and the father had an unrelated Robertsonian translocation, with a karyotype of 45,XY,rob(13;14)(q10;q10). Microarray analysis of cultured amniocytes determined the extent of the deletion of chromosome 21 material in the ring. The parents were given genetic counselling, and a phenotypically normal female baby was delivered at term. This case highlights the importance of karyotyping as an initial step in the management of couples referred for in vitro fertilization. PMID:23074672

Mosaic deletion of 20pter due to rescue by somatic recombination.

Science.gov (United States)

Martin, Megan M; Vanzo, Rena J; Sdano, Mallory R; Baxter, Adrianne L; South, Sarah T

2016-01-01

We report on a unique case of a mosaic 20pter-p13 deletion due to a somatic repair event identified by allele differentiating single nucleotide polymorphism (SNP) probes on chromosomal microarray. Small terminal deletions of 20p have been reported in a few individuals and appear to result in a variable phenotype. This patient was a 24-month-old female who presented with failure to thrive and speech delay. Chromosomal microarray analysis (CMA) performed on peripheral blood showed a 1.6 Mb deletion involving the terminus of 20p (20pter-20p13). This deletion appeared mosaic by CMA and this suspicion was confirmed by fluorescence in situ hybridization (FISH) analysis. Additionally, the deletion interval at 20p was directly adjacent to 15 Mb of mosaic copy-neutral loss of heterozygosity (LOH). The pattern of SNP probes was highly suggestive of a somatic repair event that resulted in rescue of the deleted region using the non-deleted homologue as a template. Structural mosaicism is rare and most often believed to be due to a postzygotic mechanism. This case demonstrates the additional utility of allele patterns to help distinguish mechanisms and in this case identified the possibility of either a post-zygotic repair of a germline deletion or a post-zygotic deletion with somatic recombination repair in a single step. © 2015 Wiley Periodicals, Inc.

Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases

DEFF Research Database (Denmark)

Bugge, Merete; deLozier-Blanchet, Celia; Bak, Mads

2005-01-01

liveborn children with clinical features characteristic of Patau's syndrome and three fetuses diagnosed prenatally by amniocentesis or CVS. Five cases were isochromosomes with two identical q arms, one of maternal and four of paternal origin. Only one case was a Robertsonian translocation of maternal...

Hereditary motor and autonomic neuronopathy 1 maps to chromosome 20q13.2-13.3

Directory of Open Access Journals (Sweden)

W. Marques Jr.

2004-11-01

Full Text Available The spinal muscular atrophies (SMA or hereditary motor neuronopathies result from the continuous degeneration and death of spinal cord lower motor neurons, leading to progressive muscular weakness and atrophy. We describe a large Brazilian family exhibiting an extremely rare, late-onset, dominant, proximal, and progressive SMA accompanied by very unusual manifestations, such as an abnormal sweating pattern, and gastrointestinal and sexual dysfunctions, suggesting concomitant involvement of the autonomic nervous system. We propose a new disease category for this disorder, `hereditary motor and autonomic neuronopathy', and attribute the term, `survival of motor and autonomic neurons 1' (SMAN1 to the respective locus that was mapped to a 14.5 cM region on chromosome 20q13.2-13.3 by genetic linkage analysis and haplotype studies using microsatellite polymorphic markers. This locus lies between markers D20S120 and D20S173 showing a maximum LOD score of 4.6 at D20S171, defining a region with 33 known genes, including several potential candidates. Identifying the SMAN1 gene should not only improve our understanding of the molecular mechanisms underlying lower motor neuron diseases but also help to clarify the relationship between motor and autonomic neurons.

Structural and electronic properties of Cu2Q and CuQ (Q = O, S, Se, and Te) studied by first-principles calculations

Science.gov (United States)

Zhao, Ting; Wang, Yu-An; Zhao, Zong-Yan; Liu, Qiang; Liu, Qing-Ju

2018-01-01

In order to explore the similarity, difference, and tendency of binary copper-based chalcogenides, the crystal structure, electronic structure, and optical properties of eight compounds of Cu2Q and CuQ (Q = O, S, Se, and Te) have been calculated by density functional theory with HSE06 method. According to the calculated results, the electronic structure and optical properties of Cu2Q and CuQ present certain similarities and tendencies, with the increase of atomic number of Q elements: the interactions between Cu-Q, Cu-Cu, and Q-Q are gradually enhancing; the value of band gap is gradually decreasing, due to the down-shifting of Cu-4p states; the covalent feature of Cu atoms is gradually strengthening, while their ionic feature is gradually weakening; the absorption coefficient in the visible-light region is also increasing. On the other hand, some differences can be found, owing to the different crystal structure and component, for example: CuO presents the characteristics of multi-band gap, which is very favorable to absorb infrared-light; the electron transfer in CuQ is stronger than that in Cu2Q; the absorption peaks and intensity are very strong in the ultraviolet-light region and infrared-light region. The findings in the present work will help to understand the underlying physical mechanism of binary copper-based chalcogenides, and available to design novel copper-based chalcogenides photo-electronics materials and devices.

B lineage acute lymphoblastic leukemia transformation in a child with juvenile myelomonocytic leukemia, type 1 neurofibromatosis and monosomy of chromosome 7. Possible implications in the leukemogenesis

DEFF Research Database (Denmark)

Scrideli, Carlos Alberto; Baruffi, Marcelo Razera; Rogatto, Silvia Regina

2003-01-01

This report describes the case of an 8-month-old infant with a diagnosis of juvenile myelomonocytic leukemia (JMML) and type 1 neurofibromatosis that presented progression to B lineage acute lymphoid leukemia (ALL). The same rearrangement of gene T-cell receptor gamma (TCR gamma) was detected upon...... diagnosis of JMML and ALL, suggesting that both neoplasias may have evolved from the same clone. Our results support the theory that JMML may derive from pluripotential cells and that the occurrence of monosomy of chromosome 7 within a clone of cells having an aberrant neurofibromatosis type 1 (NF1) gene...... may be the cause of JMML and acute leukemia....

Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion.

Science.gov (United States)

Ciuladaite, Zivile; Preiksaitiene, Egle; Utkus, Algirdas; Kučinskas, Vaidutis

2014-01-01

Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only few cases of familial inheritance. Such chromosomal rearrangements may lead to production of unbalanced gametes. As a result of a recombination event in the inversion loop, 2 recombinants with duplicated and deficient chromosome segments, including the regions distal to the inversion, may be produced. We report on 2 relatives in a family with opposite terminal chromosomal rearrangements of chromosome 10, i.e. rec(10)dup(10p)inv(10) and rec(10)dup(10q)inv(10), due to familial pericentric inversion inv(10)(p15.1q26.12). Based on array-CGH results, we characterized the exact genomic regions involved and compared the clinical features of both patients with previous reports on similar pericentric inversions and regional differences within 10p and 10q. The fact that both products of recombination are viable indicates a potentially high recurrence risk of unbalanced offspring. This report of unbalanced rearrangements in chromosome 10 in 2 generations confirms the importance of screening for terminal imbalances in patients with idiopathic intellectual disability by molecular cytogenetic techniques such as FISH, MLPA or microarrays. It also underlines the necessity for FISH to define structural characteristics of such cryptic intrachromosomal rearrangements and the underlying cytogenetic mechanisms. © 2014 S. Karger AG, Basel.

Combination of CO2 and Q-switched Nd:YAG lasers is more effective than Q-switched Nd:YAG laser alone for eyebrow tattoo removal.

Science.gov (United States)

Radmanesh, Mohammad; Rafiei, Zohreh

2015-04-01

The eyebrow tattoo removal using Q-switched lasers is usually prolonged. Other modalities may be required to enhance the efficacy and shorten the treatment course. To compare the efficacy of Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser alone versus combination of Q-switched Nd:YAG and Ultrapulse CO2 lasers for eyebrow tattoo removal after a single session. After local anesthesia, the right eyebrow of 20 patients was treated with Ultrapulse CO2 laser with the parameters of 4 J/cm(2) and 3.2 J/cm(2) for the first and the second passes. Both eyebrows were then treated with 1064-nm and 532-nm Q-switched Nd:YAG laser. The spot size and pulse duration were 3 mm and 5 nanoseconds for both wavelengths, and the fluence was 7 J/cm(2) for 1064 nm and 3 J/cm (2) for 532 nm. The side treated with combination of Q-switched Nd:YAG and CO2 lasers improved 75-100% in 6 of 20 patients versus only 1 of 20 in the side treated with Q-switched Nd:YAG alone. Similarly, the right side in 13 of 20 patients showed more than 50% improvement with combination therapy versus the left side (the monotherapy side), where only 6 of 20 cases showed more than 50% improvement. The Mann-Whitney test was 2.85 for the right side and 1.95 for the left side (P value = 0.007). Using Ultra pulse CO2 laser enhances the efficacy of Q-switched Nd:YAG laser in eyebrow tattoo removal.

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14-Like Phenotype and Intellectual Disability

Directory of Open Access Journals (Sweden)

Almira Zada

2014-01-01

Full Text Available We present a 20-year-old female patient from Indonesia with intellectual disability (ID, proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conventional karyotyping, fragile X testing, and subtelomeric MLPA analysis. Subsequent genome wide array analysis was performed on DNA from blood and revealed a 1.1 Mb deletion in 14q32.2q32.31 (chr14:100,388,343-101,506,214; hg19. Subsequent carrier testing in the parents by array showed that the deletion had occurred de novo in the patient and that her paternal 14q32 allele was deleted. The deleted region encompasses the DLK1/GTL2 imprinted gene cluster which is consistent with the maternal UPD(14-like phenotype of the patient. This rare, recurrent microdeletion was recently shown not to be mediated by low copy repeats, but by expanded TGG repeats, flanking the 14q32.2q32.21 deletion boundaries, a novel mechanism of recurrent genomic rearrangement. This is another example how the application of high resolution genome wide testing provides an accurate genetic diagnosis, thereby improving the care for patients and optimizing the counselling for family.

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

DEFF Research Database (Denmark)

Chatron, Nicolas; Haddad, Véronique; Andrieux, Joris

2015-01-01

of different sizes (490 kb to 20.95 Mb) localized within chromosome bands 1q23.3-q31.2 (chr1:160797550-192912120, hg19). The 490 kb deletion is the smallest deletion reported to date associated with this phenotype. We delineated three regions that may contribute to the phenotype: a proximal one (chr1...

Group Delay of High Q Antennas

DEFF Research Database (Denmark)

Bahramzy, Pevand; Pedersen, Gert Frølund

2013-01-01

Group Delay variations versus frequency is an essential factor which can cause distortion and degradation in the signals. Usually this is an issue in wideband communication systems, such as satellite communication systems, which are used for transmitting wideband data. However, group delay can also...... become an issue, when working with high Q antennas, because of the steep phase shift over the frequency. In this paper, it is measured how large group delay variations can become, when going from a low Q antenna to a high Q antenna. The group delay of a low Q antenna is shown to be around 1.3 ns, whereas...... a high Q antenna has group delay of around 22 ns. It is due to this huge group delay variation characteristics of high Q antennas, that signal distortion might occur in the radio system with high Q antennas....

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. ELEONORA DI ZIO. Articles written in Journal of Genetics. Volume 97 Issue 1 March 2018 pp 311-317 RESEARCH NOTE. Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3 · MAURIZIA COLANGELO MELISSA ALFONSI CHIARA PALKA ...

Identification of a rare de novo three-way complex t(5;20;8(q31;p11.2;p21 with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report

Directory of Open Access Journals (Sweden)

Bejjani Bassem A

2009-01-01

Full Text Available Abstract Background Complex chromosome rearrangements (CCRs, which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryptic, submicroscopic imbalances at the translocation breakpoints. Results We report a female with hearing loss and global developmental delay with a complex three-way unbalanced translocation (5;20;8(q31;p11.2;p21 resulting in microdeletions on 5q31.2, 5q31.3, and 8p23.2 identified by karyotyping, microarray analysis and fluorescence in situ hybridization. Discussion The microdeletion of bands 8p23.2 may be associated with the hearing impairment. Furthermore, the characterization of this patient's chromosomal abnormalities demonstrates the importance of integrated technologies within contemporary cytogenetics laboratories.

Possible Heavy Tetraquarks qQ(-q-Q), qq(-Q-Q) and qQ(-Q-Q)%可能的qQ(-q-Q),qq(-Q-Q)和qQ(-Q-Q)重四夸克态

Institute of Scientific and Technical Information of China (English)

崔莹; 陈晓林; 邓卫真; 朱世琳

2007-01-01

Assuming X(3872) is a qc-q-c tetraquark and using its mass as input, we perform a schematic study of the masses of possible heavy tetraquarks using the color-magnetic interaction with the flavor symmetry breaking corrections.%假设X(3872)是一个qc(-q-c)四夸克态,并用它的质量作为输入,用具有味对称性破坏的色磁相互作用系统研究了可能的重四夸克态的质量谱.

T wave abnormalities, high body mass index, current smoking and high lipoprotein (a levels predict the development of major abnormal Q/QS patterns 20 years later. A population-based study

Directory of Open Access Journals (Sweden)

Sundstrom Johan

2006-03-01

Full Text Available Abstract Background Most studies on risk factors for development of coronary heart disease (CHD have been based on the clinical outcome of CHD. Our aim was to identify factors that could predict the development of ECG markers of CHD, such as abnormal Q/QS patterns, ST segment depression and T wave abnormalities, in 70-year-old men, irrespective of clinical outcome. Methods Predictors for development of different ECG abnormalities were identified in a population-based study using stepwise logistic regression. Anthropometrical and metabolic factors, ECG abnormalities and vital signs from a health survey of men at age 50 were related to ECG abnormalities identified in the same cohort 20 years later. Results At the age of 70, 9% had developed a major abnormal Q/QS pattern, but 63% of these subjects had not been previously hospitalized due to MI, while 57% with symptomatic MI between age 50 and 70 had no major Q/QS pattern at age 70. T wave abnormalities (Odds ratio 3.11, 95% CI 1.18–8.17, high lipoprotein (a levels, high body mass index (BMI and smoking were identified as significant independent predictors for the development of abnormal major Q/QS patterns. T wave abnormalities and high fasting glucose levels were significant independent predictors for the development of ST segment depression without abnormal Q/QS pattern. Conclusion T wave abnormalities on resting ECG should be given special attention and correlated with clinical information. Risk factors for major Q/QS patterns need not be the same as traditional risk factors for clinically recognized CHD. High lipoprotein (a levels may be a stronger risk factor for silent myocardial infarction (MI compared to clinically recognized MI.

Mortality and morbidity due to exposure to outdoor air pollution in Mashhad metropolis, Iran. The AirQ model approach.

Science.gov (United States)

Miri, Mohammad; Derakhshan, Zahra; Allahabadi, Ahmad; Ahmadi, Ehsan; Oliveri Conti, Gea; Ferrante, Margherita; Aval, Hamideh Ebrahimi

2016-11-01

In the past two decades, epidemiological studies have shown that air pollution is one of the causes of morbidity and mortality. In this study the effect of PM10, PM2.5, NO2, SO2 and O3 pollutants on human health among the inhabitants of Mashhad has been evaluated. To evaluate the health effects due to air pollution, the AirQ model software 3.3.2, developed by WHO European Centre for Environment and Health, was used. The daily data related to the pollutants listed above has been used for the short term health effects (total mortality, cardiovascular and respiratory mortality, hospitalization due to cardiovascular and respiratory diseases, chronic obstructive pulmonary disease and acute myocardial infarction). PM2.5 had the most health effects on Mashhad inhabitants. With increasing in each 10μg/m3, relative risk rate of pollutant concentration for total mortality due to PM10, PM2.5, SO 2 , NO 2 and O 3 was increased of 0.6%, 1.5%, 0.4%, 0.3% and 0.46% respectively and, the attributable proportion of total mortality attributed to these pollutants was respectively equal to 4.24%, 4.57%, 0.99%, 2.21%, 2.08%, and 1.61% (CI 95%) of the total mortality (correct for the non-accident) occurred in the year of study. The results of this study have a good compatibly with other studies conducted on the effects of air pollution on humans. The AirQ software model can be used in decision-makings as a useful and easy tool. Copyright © 2016 Elsevier Inc. All rights reserved.

Economic significance of Q for mirror reactors: combinations of Q and M which look promising

International Nuclear Information System (INIS)

Werner, R.W.

1978-01-01

This term Q is the ratio of the fusion powder produced to the power input. It is a driven device. Q is truly the success parameter for mirrors--widely discussed but not succinctly specified as to required value. The problem is that Q can be treated as a subjective parameter--there are many milestone Qs; for scientific demonstration, for breakeven power, etc. Yet for a successful reactor, there is only one Q and that is the Q which produces mirror fusion power at the busbar that is less than the cost of delivered power in mills/kwhr by other means. We call this Q/sub PRACTICAL/ and believe there is a convincing argument that says this Q/sub PRACTICAL/ can be about 5.0 even assuming modest efficiencies for system components. A direct convertor is necessary. If the direct convertor were deleted, a Q/sub PRACTICAL/ of approximately 7.5 would be required. If we wish to soften the value of Q further, then the technical logic for the fusion fission hybrid is very powerful. With the hybrid a Q/sub PRACTICAL/ of 1.5 to 2.0 appears to be a very reasonable value. The key in being able to specify values of Q/sub PRACTICAL/ lies in economically comparing the capital cost of fusion power to the sum of the capital cost and the present value of all the fuel costs for the competitive fuel intensive plants

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.

Science.gov (United States)

Soto, Angela Ganan; McIntyre, Adam; Agrawal, Sungeeta; Bialo, Shara R; Hegele, Robert A; Boney, Charlotte M

2015-09-04

Lipoprotein Lipase (LPL) deficiency is a rare autosomal recessive disorder with a heterogeneous clinical presentation. Several mutations in the LPL gene have been identified to cause decreased activity of the enzyme. An 11-week-old, exclusively breastfed male presented with coffee-ground emesis, melena, xanthomas, lipemia retinalis and chylomicronemia. Genomic DNA analysis identified lipoprotein lipase deficiency due to compound heterozygosity including a novel p.Q240H mutation in exon 5 of the lipoprotein lipase (LPL) gene. His severe hypertriglyceridemia, including xanthomas, resolved with dietary long-chain fat restriction. We describe a novel mutation of the LPL gene causing severe hypertriglyceridemia and report the response to treatment. A review of the current literature regarding LPL deficiency syndrome reveals a few potential new therapies under investigation.

20 CFR 408.816 - When does SVB entitlement end due to death?

Science.gov (United States)

2010-04-01

... 20 Employees' Benefits 2 2010-04-01 2010-04-01 false When does SVB entitlement end due to death? 408.816 Section 408.816 Employees' Benefits SOCIAL SECURITY ADMINISTRATION SPECIAL BENEFITS FOR CERTAIN WORLD WAR II VETERANS Suspensions and Terminations Termination § 408.816 When does SVB entitlement end due to death? Your SVB entitlement ends wit...

On Recursion Operator of the q -KP Hierarchy

International Nuclear Information System (INIS)

Tian Ke-Lei; Zhu Xiao-Ming; He Jing-Song

2016-01-01

It is the aim of the present article to give a general expression of flow equations of the q-KP hierarchy. The distinct difference between the q-KP hierarchy and the KP hierarchy is due to q-binomial and the action of q-shift operator θ, which originates from the Leibnitz rule of the quantum calculus. We further show that the n-reduction leads to a recursive scheme for these flow equations. The recursion operator for the flow equations of the q-KP hierarchy under the n-reduction is also derived. (paper)

Thermal Loss in High-Q Antennas

DEFF Research Database (Denmark)

Barrio, Samantha Caporal Del; Bahramzy, Pevand; Svendsen, Simon

2014-01-01

Tunable antennas are very promising for future generations of mobile communications, where antennas are required to cover a wide range operating bands. This letter aims at characterizing the loss mechanism of tunable antennas. Tunable antennas typically exhibit a high Quality factor (Q), which ca...... lead to thermal loss due to the conductivity of the metal. The investigation shows that copper loss is non-negligible for high Q values. In the proposed design the copper loss is 2 dB, for a Q of 260 at 700 MHz....

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

DEFF Research Database (Denmark)

Isles, Anthony R; Ingason, Andrés; Lowther, Chelsea

2016-01-01

Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications m...

HiQ - A high-Q diffractometer for PDF measurements

International Nuclear Information System (INIS)

Brunelli, M.; Fischer, H.E.; Gaehler, R.; Chatterji, T.

2011-01-01

The local structure of many important functional materials is often different from the average structure, as revealed by diffraction, due to, e.g. doping, mixed site occupancy, or formation of time-dependent local distortions. To get information on both the average and the local structures one needs to perform a joint Rietveld and PDF (Pair Distribution Function) analysis of the total scattering, for which we need data to Q = 30 - 35 Angstroms with Δd/d ∼ 3*10 -3 . Here, we describe how the hot-source diffractometer D4 can be adapted to achieve this capability, and outline one possible design of a dedicated high-Q diffractometer at the ILL (Laue Langevin Institute), using the vacant inclined hot-neutron beam IH2. (authors)

Inheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF: A Case Report

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Roberto L. P. Mazzaschi

2011-01-01

Full Text Available An amniotic fluid sample from an in vitro fertilized pregnancy was referred for cytogenetic analysis based on a Down syndrome screening risk of 1 : 21. Routine cytogenetic analysis showed a nonmosaic karyotype of 46,XX,r(21(p11.2q22.3, with partial monosomy for chromosome 21 due to a ring chromosome replacing one of the normal homologues. Detailed ultrasound scanning for the remainder of the pregnancy did not reveal any unusual findings. Parental bloods showed that the mother was mosaic for the ring 21 with a karyotype of 46,XX,r(21(p11.2q22.3/46,XX and the father had an unrelated Robertsonian translocation, with a karyotype of 45,XY,rob(13;14(q10;q10. Microarray analysis of cultured amniocytes determined the extent of the deletion of chromosome 21 material in the ring. The parents were given genetic counselling, and a phenotypically normal female baby was delivered at term. This case highlights the importance of karyotyping as an initial step in the management of couples referred for in vitro fertilization.

Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A.

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Glòria Arqué

Full Text Available BACKGROUND: Pathogenic aneuploidies involve the concept of dosage-sensitive genes leading to over- and underexpression phenotypes. Monosomy 21 in human leads to mental retardation and skeletal, immune and respiratory function disturbances. Most of the human condition corresponds to partial monosomies suggesting that critical haploinsufficient genes may be responsible for the phenotypes. The DYRK1A gene is localized on the human chromosome 21q22.2 region, and has been proposed to participate in monosomy 21 phenotypes. It encodes a dual-specificity kinase involved in neuronal development and in adult brain physiology, but its possible role as critical haploinsufficient gene in cognitive function has not been explored. METHODOLOGY/PRINCIPAL FINDINGS: We used mice heterozygous for a Dyrk1A targeted mutation (Dyrk1A+/- to investigate the implication of this gene in the cognitive phenotypes of monosomy 21. Performance of Dyrk1A+/- mice was assayed 1/ in a navigational task using the standard hippocampally related version of the Morris water maze, 2/ in a swimming test designed to reveal potential kinesthetic and stress-related behavioral differences between control and heterozygous mice under two levels of aversiveness (25 degrees C and 17 degrees C and 3/ in a long-term novel object recognition task, sensitive to hippocampal damage. Dyrk1A+/- mice showed impairment in the development of spatial learning strategies in a hippocampally-dependent memory task, they were impaired in their novel object recognition ability and were more sensitive to aversive conditions in the swimming test than euploid control animals. CONCLUSIONS/SIGNIFICANCE: The present results are clear examples where removal of a single gene has a profound effect on phenotype and indicate that haploinsufficiency of DYRK1A might contribute to an impairment of cognitive functions and stress coping behavior in human monosomy 21.

Quantification of diffusion and anisotropy in intracranial epidermoids using diffusion tensor metrics and p: q tensor decomposition.

Science.gov (United States)

Srinivasan, K; Thomas, B; Shah, D; Kannath, S K; Menon, G; Sandhyamani, S; Kesavadas, C; Kapilamoorthy, T R

2016-12-01

To quantitatively evaluate the diffusion tensor metrics p, q, L and fractional anisotropy in intracranial epidermoids in comparison with normal white matter in the splenium of the corpus callosum. This retrospective study included 20 consecutive patients referred to our institute. All patients had a magnetic resonance imaging (MRI) study on a 1.5-Tesla MR system. A spin-echo echo-planar DTI sequence with diffusion gradients along 30 non-collinear directions was performed. The eigen values (λ 1 , λ 2 , λ 3 ) were computed for each voxel and, using p: q tensor decomposition, the DTI metrics p, q and L-values and fractional anositropy (FA) were calculated. The region of interest (ROI) (6 pixels each) was placed within the lesion in all the cases and in the splenium of the corpus callosum. The mean FA in the lesion and splenium were 0.50 and 0.88 respectively, with a statistically significant difference between them (Ptensor decomposition, the mean p-value in the epidermoid was 1.55±0.24 and 1.35±0.20 in the splenium; the mean q-values in the epidermoid was 0.67±0.13 and 1.27±0.17 in the splenium; the differences were statistically significant (P=0.01 and <0.01 respectively). The significant difference between p- and q-values in epidermoids compared with the splenium of callosum was probably due to structural and orientation differences in the keratin flakes in epidermoids and white matter bundles in the callosum. However, no significant statistical difference in L-values was noted (P=0.44). DTI metrics p and q have the potential to quantify the diffusion and anisotropy in various tissues thereby gaining information about their internal architecture. The results also suggest that significant differences of DTI metrics p and q between epidermoid and the splenium of the corpus callosum are due to the difference in structural organization within them. Copyright © 2016. Published by Elsevier Masson SAS.

Deletion of the App-Runx1 region in mice models human partial monosomy 21

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Thomas Arbogast

2015-06-01

Full Text Available Partial monosomy 21 (PM21 is a rare chromosomal abnormality that is characterized by the loss of a variable segment along human chromosome 21 (Hsa21. The clinical phenotypes of this loss are heterogeneous and range from mild alterations to lethal consequences, depending on the affected region of Hsa21. The most common features include intellectual disabilities, craniofacial dysmorphology, short stature, and muscular and cardiac defects. As a complement to human genetic approaches, our team has developed new monosomic mouse models that carry deletions on Hsa21 syntenic regions in order to identify the dosage-sensitive genes that are responsible for the symptoms. We focus here on the Ms5Yah mouse model, in which a 7.7-Mb region has been deleted from the App to Runx1 genes. Ms5Yah mice display high postnatal lethality, with a few surviving individuals showing growth retardation, motor coordination deficits, and spatial learning and memory impairments. Further studies confirmed a gene dosage effect in the Ms5Yah hippocampus, and pinpointed disruptions of pathways related to cell adhesion (involving App, Cntnap5b, Lgals3bp, Mag, Mcam, Npnt, Pcdhb2, Pcdhb3, Pcdhb4, Pcdhb6, Pcdhb7, Pcdhb8, Pcdhb16 and Vwf. Our PM21 mouse model is the first to display morphological abnormalities and behavioural phenotypes similar to those found in affected humans, and it therefore demonstrates the major contribution that the App-Runx1 region has in the pathophysiology of PM21.

Deletion of the App-Runx1 region in mice models human partial monosomy 21.

Science.gov (United States)

Arbogast, Thomas; Raveau, Matthieu; Chevalier, Claire; Nalesso, Valérie; Dembele, Doulaye; Jacobs, Hugues; Wendling, Olivia; Roux, Michel; Duchon, Arnaud; Herault, Yann

2015-06-01

Partial monosomy 21 (PM21) is a rare chromosomal abnormality that is characterized by the loss of a variable segment along human chromosome 21 (Hsa21). The clinical phenotypes of this loss are heterogeneous and range from mild alterations to lethal consequences, depending on the affected region of Hsa21. The most common features include intellectual disabilities, craniofacial dysmorphology, short stature, and muscular and cardiac defects. As a complement to human genetic approaches, our team has developed new monosomic mouse models that carry deletions on Hsa21 syntenic regions in order to identify the dosage-sensitive genes that are responsible for the symptoms. We focus here on the Ms5Yah mouse model, in which a 7.7-Mb region has been deleted from the App to Runx1 genes. Ms5Yah mice display high postnatal lethality, with a few surviving individuals showing growth retardation, motor coordination deficits, and spatial learning and memory impairments. Further studies confirmed a gene dosage effect in the Ms5Yah hippocampus, and pinpointed disruptions of pathways related to cell adhesion (involving App, Cntnap5b, Lgals3bp, Mag, Mcam, Npnt, Pcdhb2, Pcdhb3, Pcdhb4, Pcdhb6, Pcdhb7, Pcdhb8, Pcdhb16 and Vwf). Our PM21 mouse model is the first to display morphological abnormalities and behavioural phenotypes similar to those found in affected humans, and it therefore demonstrates the major contribution that the App-Runx1 region has in the pathophysiology of PM21. © 2015. Published by The Company of Biologists Ltd.

Capture Hi-C identifies a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23.

Science.gov (United States)

McGovern, Amanda; Schoenfelder, Stefan; Martin, Paul; Massey, Jonathan; Duffus, Kate; Plant, Darren; Yarwood, Annie; Pratt, Arthur G; Anderson, Amy E; Isaacs, John D; Diboll, Julie; Thalayasingam, Nishanthi; Ospelt, Caroline; Barton, Anne; Worthington, Jane; Fraser, Peter; Eyre, Stephen; Orozco, Gisela

2016-11-01

The identification of causal genes from genome-wide association studies (GWAS) is the next important step for the translation of genetic findings into biologically meaningful mechanisms of disease and potential therapeutic targets. Using novel chromatin interaction detection techniques and allele specific assays in T and B cell lines, we provide compelling evidence that redefines causal genes at the 6q23 locus, one of the most important loci that confers autoimmunity risk. Although the function of disease-associated non-coding single nucleotide polymorphisms (SNPs) at 6q23 is unknown, the association is generally assigned to TNFAIP3, the closest gene. However, the DNA fragment containing the associated SNPs interacts through chromatin looping not only with TNFAIP3, but also with IL20RA, located 680 kb upstream. The risk allele of the most likely causal SNP, rs6927172, is correlated with both a higher frequency of interactions and increased expression of IL20RA, along with a stronger binding of both the NFκB transcription factor and chromatin marks characteristic of active enhancers in T-cells. Our results highlight the importance of gene assignment for translating GWAS findings into biologically meaningful mechanisms of disease and potential therapeutic targets; indeed, monoclonal antibody therapy targeting IL-20 is effective in the treatment of rheumatoid arthritis and psoriasis, both with strong GWAS associations to this region.

Skew cyclic codes over F_q+uF_q+vF_q+uvF_q

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Ting Yao

2015-09-01

Full Text Available In this paper, we study skew cyclic codes over the ring $R=F_q+uF_q+vF_q+uvF_q$, where $u^{2}=u,v^{2}=v,uv=vu$, $q=p^{m}$ and $p$ is an odd prime. We investigate the structural properties of skew cyclic codes over $R$ through a decomposition theorem. Furthermore, we give a formula for the number of skew cyclic codes of length $n$ over $R.$

Altered bacterial metabolism, not coenzyme Q content, is responsible for the lifespan extension in Caenorhabditis elegans fed an Escherichia coli diet lacking coenzyme Q.

Science.gov (United States)

Saiki, Ryoichi; Lunceford, Adam L; Bixler, Tarra; Dang, Peter; Lee, Wendy; Furukawa, Satoru; Larsen, Pamela L; Clarke, Catherine F

2008-06-01

Coenzyme Q(n) is a fully substituted benzoquinone containing a polyisoprene tail of distinct numbers (n) of isoprene groups. Caenorhabditis elegans fed Escherichia coli devoid of Q(8) have a significant lifespan extension when compared to C. elegans fed a standard 'Q-replete'E. coli diet. Here we examine possible mechanisms for the lifespan extension caused by the Q-less E. coli diet. A bioassay for Q uptake shows that a water-soluble formulation of Q(10) is effectively taken up by both clk-1 mutant and wild-type nematodes, but does not reverse lifespan extension mediated by the Q-less E. coli diet, indicating that lifespan extension is not due to the absence of dietary Q per se. The enhanced longevity mediated by the Q-less E. coli diet cannot be attributed to dietary restriction, different Qn isoforms, reduced pathogenesis or slowed growth of the Q-less E. coli, and in fact requires E. coli viability. Q-less E. coli have defects in respiratory metabolism. C. elegans fed Q-replete E. coli mutants with similarly impaired respiratory metabolism due to defects in complex V also show a pronounced lifespan extension, although not as dramatic as those fed the respiratory deficient Q-less E. coli diet. The data suggest that feeding respiratory incompetent E. coli, whether Q-less or Q-replete, produces a robust life extension in wild-type C. elegans. We believe that the fermentation-based metabolism of the E. coli diet is an important parameter of C. elegans longevity.

Transient pool boiling heat transfer due to increasing heat inputs in subcooled water at high pressures

International Nuclear Information System (INIS)

Fukuda, K.; Shiotsu, M.; Sakurai, A.

1995-01-01

Understanding of transient boiling phenomenon caused by increasing heat inputs in subcooled water at high pressures is necessary to predict correctly a severe accident due to a power burst in a water-cooled nuclear reactor. Transient maximum heat fluxes, q max , on a 1.2 mm diameter horizontal cylinder in a pool of saturated and subcooled water for exponential heat inputs, q o e t/T , with periods, τ, ranging from about 2 ms to 20 s at pressures from atmospheric up to 2063 kPa for water subcoolings from 0 to about 80 K were measured to obtain the extended data base to investigate the effect of high subcoolings on steady-state and transient maximum heat fluxes, q max . Two main mechanisms of q max exist depending on the exponential periods at low subcoolings. One is due to the time lag of the hydrodynamic instability which starts at steady-state maximum heat flux on fully developed nucleate boiling (FDNB), and the other is due to the heterogenous spontaneous nucleations (HSN) in flooded cavities which coexist with vapor bubbles growing up from active cavities. The shortest period corresponding to the maximum q max for long period range belonging to the former mechanism becomes longer and the q max mechanism for long period range shifts to that due the HSN on FDNB with the increase of subcooling and pressure. The longest period corresponding to the minimum q max for the short period range belonging to the latter mechanism becomes shorter with the increase in saturated pressure. On the contrary, the longest period becomes longer with the increase in subcooling at high pressures. Correlations for steady-state and transient maximum heat fluxes were presented for a wide range of pressure and subcooling

Transient pool boiling heat transfer due to increasing heat inputs in subcooled water at high pressures

Energy Technology Data Exchange (ETDEWEB)

Fukuda, K. [Kobe Univ. of Mercantile Marine (Japan); Shiotsu, M.; Sakurai, A. [Kyoto Univ. (Japan)

1995-09-01

Understanding of transient boiling phenomenon caused by increasing heat inputs in subcooled water at high pressures is necessary to predict correctly a severe accident due to a power burst in a water-cooled nuclear reactor. Transient maximum heat fluxes, q{sub max}, on a 1.2 mm diameter horizontal cylinder in a pool of saturated and subcooled water for exponential heat inputs, q{sub o}e{sup t/T}, with periods, {tau}, ranging from about 2 ms to 20 s at pressures from atmospheric up to 2063 kPa for water subcoolings from 0 to about 80 K were measured to obtain the extended data base to investigate the effect of high subcoolings on steady-state and transient maximum heat fluxes, q{sub max}. Two main mechanisms of q{sub max} exist depending on the exponential periods at low subcoolings. One is due to the time lag of the hydrodynamic instability which starts at steady-state maximum heat flux on fully developed nucleate boiling (FDNB), and the other is due to the heterogenous spontaneous nucleations (HSN) in flooded cavities which coexist with vapor bubbles growing up from active cavities. The shortest period corresponding to the maximum q{sub max} for long period range belonging to the former mechanism becomes longer and the q{sub max}mechanism for long period range shifts to that due the HSN on FDNB with the increase of subcooling and pressure. The longest period corresponding to the minimum q{sub max} for the short period range belonging to the latter mechanism becomes shorter with the increase in saturated pressure. On the contrary, the longest period becomes longer with the increase in subcooling at high pressures. Correlations for steady-state and transient maximum heat fluxes were presented for a wide range of pressure and subcooling.

Core barrier formation near integer q surfaces in DIII-D

International Nuclear Information System (INIS)

Austin, M. E.; Gentle, K. W.; Burrell, K. H.; Waltz, R. E.; Gohil, P.; Greenfield, C. M.; Groebner, R. J.; Petty, C. C.; Prater, R.; Heidbrink, W. W.; Luo, Y.; Kinsey, J. E.; Makowski, M. A.; McKee, G. R.; Shafer, M. W.; Nazikian, R.; Rhodes, T. L.; Van Zeeland, M. A.

2006-01-01

Recent DIII-D experiments have significantly improved the understanding of internal transport barriers (ITBs) that are triggered close to the time when an integer value of the minimum in q is crossed. While this phenomenon has been observed on many tokamaks, the extensive transport and fluctuation diagnostics on DIII-D have permitted a detailed study of the generation mechanisms of q-triggered ITBs as pertaining to turbulence suppression dynamics, shear flows, and energetic particle modes. In these discharges, the evolution of the q profile is measured using motional Stark effect polarimetry and the integer q min crossings are further pinpointed in time by the observation of Alfven cascades. High time resolution measurements of the ion and electron temperatures and the toroidal rotation show that the start of improved confinement is simultaneous in all three channels, and that this event precedes the traversal of integer q min by 5-20 ms. There is no significant low-frequency magnetohydrodynamic activity prior to or just after the crossing of the integer q min and hence magnetic reconnection is determined not to be the precipitant of the confinement change. Instead, results from the GYRO code point to the effects of zonal flows near low order rational q values as playing a role in ITB triggering. A reduction in local turbulent fluctuations is observed at the start of the temperature rise and, concurrently, an increase in turbulence poloidal flow velocity and flow shear is measured with the beam emission spectroscopy diagnostic. For the case of a transition to an enduring internal barrier the fluctuation level remains at a reduced amplitude. The timing and nature of the temperature, rotation, and fluctuation changes leading to internal barriers suggests transport improvement due to increased shear flow arising from the zonal flow structures

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

Directory of Open Access Journals (Sweden)

Anthony R Isles

2016-05-01

Full Text Available Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS region have been associated with developmental delay (DD, autism spectrum disorder (ASD and schizophrenia (SZ. Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA, but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15 or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

Science.gov (United States)

Isles, Anthony R.; Ingason, Andrés; Lowther, Chelsea; Gawlick, Micha; Stöber, Gerald; Potter, Harry; Georgieva, Lyudmila; Pizzo, Lucilla; Ozaki, Norio; Kushima, Itaru; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F.; Gejman, Pablo V.; Shi, Jianxin; Sanders, Alan R.; Duan, Jubao; Sisodiya, Sanjay; Costain, Gregory; Degenhardt, Franziska; Giegling, Ina; Rujescu, Dan; Hreidarsson, Stefan J.; Saemundsen, Evald; Ahn, Joo Wook; Ogilvie, Caroline; Stefansson, Hreinn; Stefansson, Kari; O’Donovan, Michael C.; Owen, Michael J.; Bassett, Anne; Kirov, George

2016-01-01

Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas the pathogenicity of paternal ones is unclear. To clarify the role of maternal and paternal duplications, we conducted the largest and most detailed study to date of parental origin of 15q11.2-q13.3 interstitial duplications in DD, ASD and SZ cohorts. We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. The importance of the epigenetic status of 15q11.2-q13.3 duplications was further underlined by analysis of a number of families, in which the duplication was paternally derived in the mother, who was unaffected, whereas her offspring, who inherited a maternally derived duplication, suffered from psychotic illness. Interestingly, the most consistent clinical characteristics of SZ patients with 15q11.2-q13.3 duplications were learning or developmental problems, found in 76% of carriers. Despite their lower pathogenicity, paternal duplications are less frequent in the general population with a general population prevalence of 0.0033% compared to 0.0069% for maternal duplications. This may be due to lower fecundity of male carriers and differential survival of embryos, something echoed in the findings that both types of duplications are de novo in just over 50% of cases. Isodicentric chromosome 15 (idic15) or interstitial triplications were not observed in SZ patients or in controls. Overall, this study refines the distinct roles of maternal and paternal interstitial duplications at 15q11.2-q13.3, underlining the critical importance of maternally

Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families.

Science.gov (United States)

Auranen, M; Nieminen, T; Majuri, S; Vanhala, R; Peltonen, L; Järvelä, I

2000-05-01

The role of genetic factors in the etiology of the autistic spectrum of disorders has clearly been demonstrated. Ten chromosomal regions, on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q have potentially been linked to autism.1-8 We have analyzed these chromosomal regions in a total of 17 multiplex families with autism originating from the isolated Finnish population by pairwise linkage analysis and sib-pair analysis. Mild evidence for putative contribution was found only with the 1p chromosomal region in the susceptibility to autism. Our data suggest that additional gene loci exist for autism which will be detectable in and even restricted to the isolated Finnish population.

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

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Konstantina Fragaki

Full Text Available BACKGROUND: Coenzyme Q10 (CoQ10 or ubiquinone deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxidative phosphorylation disorder that can be clinically improved after oral CoQ10 supplementation. Thus, early diagnosis, first evoked by mitochondrial respiratory chain (MRC spectrophotometric analysis, then confirmed by direct measurement of CoQ10 levels, is of critical importance to prevent irreversible damage in organs such as the kidney and the central nervous system. It is widely reported that CoQ10 deficient patients present decreased quinone-dependent activities (segments I + III or G3P + III and II + III while MRC activities of complexes I, II, III, IV and V are normal. We previously suggested that CoQ10 defect may be associated with a deficiency of CoQ10-independent MRC complexes. The aim of this study was to verify this hypothesis in order to improve the diagnosis of this disease. RESULTS: To determine whether CoQ10 defect could be associated with MRC deficiency, we quantified CoQ10 by LC-MSMS in a cohort of 18 patients presenting CoQ10-dependent deficiency associated with MRC defect. We found decreased levels of CoQ10 in eight patients out of 18 (45 %, thus confirming CoQ10 disease. CONCLUSIONS: Our study shows that CoQ10 defect can be associated with MRC deficiency. This could be of major importance in clinical practice for the diagnosis of a disease that can be improved by CoQ10 supplementation.

KFM 01A. Q-logging

International Nuclear Information System (INIS)

Barton, Nick

2003-03-01

The first Forsmark potential repository site borehole KFM 01A provided core from 101.8 to 1000.7 m depth. This was independently Q-logged during a two-day period (19th-20th February, 2003), without access to BORMAP results or regional jointing frequencies or orientations. The Q-logging was intended to be an independent check for subsequent BORMAP-derived Q-parameter estimation. The Q-logging was accomplished using the manually-recorded 'histogram method' which allows the logger to enter Q-parameter ranges and depths directly into the appropriate histograms, which facilitates subsequent data processing using Excel spreadsheets. Successive pairs of core boxes, which contain an average of 11 meters of core in ten rows, were the source of ten opinions of each of the six Q-parameters, giving a total of 4920 recordings of Q-parameter values for the 164 core boxes. Data processing was divided into several parts, with successively increasing detail. The report therefore contains Q-histograms for the whole core, for four identified fracture(d) zones combined as if one unit, and then for the whole core minus these fracture(d) zones. This background rock mass quality is subsequently divided into nine depth zones or slices, and trends of variation with depth are tabulated. The four identified fracture(d) zones, which are actually of reasonable quality, are also analysed separately, and similarities and subtle differences are discerned between them. The overall quality of this first core is very good to excellent, with Q(mean) of 48.4, and a most frequent Q-value of 100. The range of quality is from 2.1 to 2130, which is the complete upper half of the six order of magnitude Q scale. Even the relatively fracture(d) zones, representing some 13% of the 900 m cored, have a combined Q(mean) of 13.9 and a range of quality of 2.1 to 150

20 CFR 410.418 - Irrebuttable presumption of total disability due to pneumoconiosis.

Science.gov (United States)

2010-04-01

... 20 Employees' Benefits 2 2010-04-01 2010-04-01 false Irrebuttable presumption of total disability due to pneumoconiosis. 410.418 Section 410.418 Employees' Benefits SOCIAL SECURITY ADMINISTRATION... of the Pneumoconioses of the International Labour Office, Extended Classification (1968) (which may...

q-bosons and the q-analogue quantized field

International Nuclear Information System (INIS)

Nelson, C.A.

1994-01-01

The q-analogue coherent states |z > q are used to identify physical signatures for the presence of a q-analogue quantized radiation field in the | > q classical limit where |z| is large. In this quantum-optics-like limit, the fractional uncertainties of most physical quantities (momentum, position, amplitude, phase) which characterize the quantum field are O(1). They only vanish as O(1/|z|) when q = 1. However, for the number operator, N, and the N-Hamiltonian for a free q-boson gas, H N = ℎω(N + 1/2), the fractional uncertainties do still approach zero. A signature for q-boson counting statistics is that (ΔN) 2 / → 0 as |z| → ∞. Except for its O(1) fractional uncertainty, the q-generalization of the Hermitian phase operator of Pegg and Barnett, φ q , still exhibits normal classical behavior. The standard number-phase uncertainty-relation, ΔN Δφ q = 1/2, and the approximate commutation relation, [N,φ q ] = i, still hold for the single-mode q-analogue quantized field. So, N and φ q are almost canonically conjugate operators in the |z > q classical limit. The |z > q CS's minimize this uncertainty relation for moderate |z| 2

Quasi quantum group covariant q-oscillators

International Nuclear Information System (INIS)

Schomerus, V.

1992-05-01

If q is a p-th root of unity there exists a quasi-co-associative truncated quantum group algebra U T q (sl 2 ) whose indecomposable representations are the physical representations of U q (sl 2 ), whose co-product yields the truneated tensor product of physical representations of U q (sl 2 ), and whose R-matrix satisfies quasi Yang Baxter equations. For primitive p-th roots q, we consider a 2-dimensional q-oscillator which admits U T q (sl 2 ) as a symmetry algebra. Its wave functions lie in a space F T q of 'functions on the truncated quantum plane', i.e. of polynomials in noncommuting complex coordinate functions z a , on which multiplication operators Z a and the elements of U T q (sl 2 ) can act. This illustrates the concept of quasi quantum planes. Due to the truncation, the Hilbert space of states is finite dimensional. The subspaces F T(n) of monomials in x a of n-th degree vanish for n ≥ p-1, and F T(n) carries the 2J+1 dimensional irreducible representation of U T q (sl 2 ) if n=2J, J=0, 1/2, ... 1/2(p-2). Partial derivatives δ a are introduced. We find a *-operation on the algebra of multiplication operators Z i and derivatives δ b such that the adjoints Z * a act as differentiation on the truncated quantum plane. Multiplication operators Z a ('creation operators') and their adjoints ('annihilation operators') obey q -1/2 -commutation relations. The *-operation is used to determine a positive definite scalar product on the truncated quantum plane F T q . Some natural candidates of Hamiltonians for the q-oscillators are determined. (orig./HSI)

The C1q family of proteins: insights into the emerging non-traditional functions

Directory of Open Access Journals (Sweden)

Berhane eGhebrehiwet

2012-04-01

Full Text Available Research conducted over the past 20 years have helped us unravel not only the hidden structural and functional subtleties of human C1q, but also has catapulted the molecule from a mere recognition unit of the classical pathway to a well-recognized molecular sensor of damage modified self or non-self antigens. Thus, C1q is involved in a rapidly expanding list of pathological disorders—including autoimmunity, trophoblast migration, preeclampsia and cancer. The results of two recent reports are provided to underscore the critical role C1q plays in health and disease. First is the observation by Singh and colleagues showing that pregnant C1q-/- mice recapitulate the key features of human preeclampsia that correlate with increased fetal death. Treatment of the C1q-/- mice with pravastatin restored trophoblast invasiveness, placental blood flow, and angiogenic balance and, thus, prevented the onset of preeclampsia. Second is the report by Hong et al., which showed that C1q can induce apoptosis of prostate cancer cells by activating the tumor suppressor molecule WW-domain containing oxydoreductase (WWOX or WOX1 and destabilizing cell adhesion. Downregulation of C1q on the other hand enhanced prostate hyperplasia and cancer formation due to failure of WOX1 activation. Recent evidence also shows that C1q belongs to a family of structurally and functionally related TNFα-like family of proteins that may have arisen from a common ancestral gene. Therefore C1q not only shares the diverse functions with the TNF family of proteins, but also explains why C1q has retained some of its ancestral cytokine-like activities. This review is intended to highlight some of the structural and functional aspects of C1q by underscoring the growing list of its non-traditional functions.

Comparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome.

Science.gov (United States)

Weisman, O; Feldman, R; Burg-Malki, M; Keren, M; Geva, R; Diesendruck, G; Gothelf, D

2017-12-01

Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Eighty-two children participated in four study groups: WS (n = 18), 22q112.DS (n = 24), age-matched individuals with idiopathic developmental disability (IDD; n = 20) and typically developing (TD) controls (n = 20). Participants completed four socio-cognitive tests: facial emotion recognition, mental state attribution, differentiating real from apparent emotions and trait inference based on motives and actions-outcomes. The current findings demonstrate that children with WS were better in labelling happy faces compared with children with 22q11.2DS, partially reflecting their exaggerated social drive. In the false belief task, however, the WS and IDD groups performed poorly compared with the 22q11.2DS group, possibly due to their difficulty to interpret subtle social cues. When asked to identify the gap between real-negative vs. apparent-positive emotions, the 22q11.2DS group performed similarly to TD children but better than the WS group, possibly due to their anxious personality and their innate bias towards negatively valence cues. Finally, individuals with WS were more willing to become friends with a story character even when the character's motives were negative, reflecting their difficulty to avoid potentially harmful real-life situations. Overall, our multi-facet socio-cognitive battery uncovered strengths and weaknesses in social cognition that are syndrome-specific, shared among the genetic syndromes, or common to the three clinical groups compared with healthy controls. Our findings underscore the need to devise age-specific and condition-specific assessment tools and intervention programs towards improving these children's socio-cognitive deficits. © 2017

On the q-exponential of matrix q-Lie algebras

Directory of Open Access Journals (Sweden)

Ernst Thomas

2017-01-01

Full Text Available In this paper, we define several new concepts in the borderline between linear algebra, Lie groups and q-calculus.We first introduce the ring epimorphism r, the set of all inversions of the basis q, and then the important q-determinant and corresponding q-scalar products from an earlier paper. Then we discuss matrix q-Lie algebras with a modified q-addition, and compute the matrix q-exponential to form the corresponding n × n matrix, a so-called q-Lie group, or manifold, usually with q-determinant 1. The corresponding matrix multiplication is twisted under τ, which makes it possible to draw diagrams similar to Lie group theory for the q-exponential, or the so-called q-morphism. There is no definition of letter multiplication in a general alphabet, but in this article we introduce new q-number systems, the biring of q-integers, and the extended q-rational numbers. Furthermore, we provide examples of matrices in suq(4, and its corresponding q-Lie group. We conclude with an example of system of equations with Ward number coeficients.

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

DEFF Research Database (Denmark)

Cingöz, Sultan; Bache, Iben; Bjerglund, Lise

2011-01-01

Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3-q32.2 in a male patient...... on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia....

Heavy-Quark Symmetry Implies Stable Heavy Tetraquark Mesons Q_{i}Q_{j}q[over ¯]_{k}q[over ¯]_{l}.

Science.gov (United States)

Eichten, Estia J; Quigg, Chris

2017-11-17

For very heavy quarks Q, relations derived from heavy-quark symmetry predict the existence of novel narrow doubly heavy tetraquark states of the form Q_{i}Q_{j}q[over ¯]_{k}q[over ¯]_{l} (subscripts label flavors), where q designates a light quark. By evaluating finite-mass corrections, we predict that double-beauty states composed of bbu[over ¯]d[over ¯], bbu[over ¯]s[over ¯], and bbd[over ¯]s[over ¯] will be stable against strong decays, whereas the double-charm states ccq[over ¯]_{k}q[over ¯]_{l}, mixed beauty+charm states bcq[over ¯]_{k}q[over ¯]_{l}, and heavier bbq[over ¯]_{k}q[over ¯]_{l} states will dissociate into pairs of heavy-light mesons. Observation of a new double-beauty state through its weak decays would establish the existence of tetraquarks and illuminate the role of heavy color-antitriplet diquarks as hadron constituents.

Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome.

Science.gov (United States)

Wang, Zuoyun; Sun, Yihua; Gao, Bin; Lu, Yi; Fang, Rong; Gao, Yijun; Xiao, Tian; Liu, Xin-Yuan; Pao, William; Zhao, Yun; Chen, Haiquan; Ji, Hongbin

2014-01-01

Germline mutations are responsible for familial cancer syndromes which account for approximately 5-10% of all types of cancers. These mutations mainly occur at tumor suppressor genes or genome stability genes, such as DNA repair genes. Here we have identified a cancer predisposition family, in which eight members were inflicted with a wide spectrum of cancer including one diagnosed with lung cancer at 22years old. Sequencing analysis of tumor samples as well as histologically normal specimens identified two germline mutations co-existing in the familial cancer syndrome, the mutation of tumor suppressor gene P53 V157D and mismatch repair gene PMS2 R20Q. We further demonstrate that P53 V157D and/or PMS2 R20Q mutant promotes lung cancer cell proliferation. These two mutants are capable of promoting colony formation in soft agar as well as tumor formation in transgenic drosophila system. Collectively, these data have uncovered the important role of co-existing germline P53 and PMS2 mutations in the familial cancer syndrome development. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Electrochemistry of Q-graphene.

Science.gov (United States)

Randviir, Edward P; Brownson, Dale A C; Gómez-Mingot, Maria; Kampouris, Dimitrios K; Iniesta, Jesús; Banks, Craig E

2012-10-21

A newly synthesised type of graphene, Q-Graphene, has been physically and electrochemically characterised with Scanning and Transmission Electron Microscopy (SEM, TEM), X-ray Photoelectron Spectroscopy (XPS) and Cyclic Voltammetry (CV). Interpretation of SEM, TEM and XPS data reveal the material to consist of hollow carbon nanospheres of multi-layer graphene (viz. graphite), which exhibit a total oxygen content of ca. 36.0% (atomic weight via XPS). In addition to the carbon structures present, spherical magnesium oxide particles of ≤50 nm in diameter are abundantly present in the sample (ca. 16.2%). Interestingly, although the TEM/SEM images show macroporous carbon structures, Raman spectroscopy shows peaks typically characteristic of graphene, which suggests the material is highly heterogeneous and consists of many types of carbon allotropes. Q-Graphene is electrochemically characterised using both inner-sphere and outer-sphere electrochemical redox probes, namely potassium ferrocyanide(II), hexaammine-ruthenium(III) chloride and hexachloroiridate(III), in addition to the biologically relevant and electroactive analytes, norepinephrine, β-nicotinamide adenine dinucleotide (NADH) and l-ascorbic acid. The electrochemical response of Q-Graphene is benchmarked against edge plane- and basal plane-pyrolytic graphite (EPPG and BPPG respectively), pristine graphene and graphite alternatives. Q-Graphene is found to exhibit fast electron transfer kinetics, likely due to its high proportion of folded edges and surface defects, exhibiting a response similar to that of EPPG - which exhibits fast electron transfer rates due to the high proportion of edge plane sites it possesses. Furthermore, we demonstrate that the specific oxygen content plays a pivotal role in dictating the observed electrochemical response, which is analyte dependant. Consequently there is potential for this new member of the graphene family to be beneficially utilised in various electrochemical

q-Virasoro algebra, q-conformal dimensions and free q-superstring

International Nuclear Information System (INIS)

Chaichian, M.

1996-01-01

The commutators of standard Virasoro generators and fields generate various representations of the centreless Virasoro algebra depending on a conformal dimension J of the field in question (J is related to the Bargmann index of SU(1,1) generated by L m , m=0,±1). We introduce the notion of q-conformal dimension for various oscillator realizations of q-deformed Virasoro (super)algebras proposed earlier. We use the field theoretical approach introduced recently in which the q-Virasoro currents L α (z) are expressed as Schwinger-like point-split normally ordered quadratic expressions in elementary fields. We extend this approach and probe the elementary fields A(z) (the q-superstring coordinate, momentum and fermionic field) and their powers by the q-Virasoro generators L α m (i.e. we calculate the commutators [L α m ,A(z)]) and show that to all of them can be assigned just the standard non-deformed conformal dimension. (orig.)

Translocation t(11;14 (q13;q32 and genomic imbalances in multi-ethnic multiple myeloma patients: a Malaysian study

Directory of Open Access Journals (Sweden)

Ivyna Bong Pau Ni

2012-09-01

Full Text Available More than 50% of myeloma cases have normal karyotypes under conventional cytogenetic analysis due to low mitotic activity and content of plasma cells in the bone marrow. We used a polymerase chain reaction (PCR-based translocation detection assay to detect BCL1/JH t(11;14 (q13;q32 in 105 myeloma patients, and randomly selected 8 translocation positive samples for array comparative genomic hybridization (aCGH analysis. Our findings revealed 14.3% of myeloma samples were positive for BCL1/JH t(11;14 (q13;q32 translocation (n=15 of 105. We found no significant correlation between this translocation with age (P=0.420, gender (P=0.317, ethnicity (P=0.066 or new/relapsed status of multiple myeloma (P=0.412 at 95% confidence interval level by x2 test. In addition, aCGH results showed genomic imbalances in all samples analyzed. Frequent chromosomal gains were identified at regions 1q, 2q, 3p, 3q, 4p, 4q, 5q, 7q, 9q, 11q, 13q, 15q, 21q, 22q and Xq, while chromosomal losses were detected at 4q and 14q. Copy number variations at genetic loci that contain NAMPT, IVNS1ABP and STK17B genes are new findings that have not previously been reported in myeloma patients. Besides fluorescence in situ hybridization, PCR is another rapid, sensitive and simple technique that can be used for detecting BCL1/JH t(11;14(q13;q32 translocation in multiple myeloma patients. Genes located in the chromosomal aberration regions in our study, such as NAMPT, IVNS1ABP, IRF2BP2, PICALM, STAT1, STK17B, FBXL5, ACSL1, LAMP2, SAMSN1 and ATP8B4 might be potential prognostic markers and therapeutic targets in the treatment and management of multiple myeloma patients positive for BCL1/JH t(11;14 (q13;q32 translocation.

Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

Science.gov (United States)

McPherson, E W; Laneri, G; Clemens, M M; Kochmar, S J; Surti, U

1997-09-05

Coffin-Siris syndrome is a multiple anomaly/mental retardation syndrome characterized by "coarse" facial appearance, hypoplastic or absent nails on the fifth digits, generalized hirsutism with sparse scalp hair, hypotonia, and developmental delay. Due to several reports of affected sibs with or without a mildly affected parent, both autosomal recessive and autosomal dominant inheritance have been suggested. All previous patients with well-documented Coffin-Siris syndrome are chromosomally normal, and the gene has not been mapped. We report on an infant with typical findings of Coffin-Siris syndrome who also has a de novo apparently balanced translocation of chromosomes 1 and 7, karyotype 46,XY,t(1;7)(q21.3;q34). The parental chromosomes are normal and none of the relatives have signs of Coffin-Siris syndrome. The breakpoints 1q21.3 and 7q34 are suggested as possible locations for a Coffin-Siris gene.

A randomized trial of coenzyme Q10 in patients with confirmed statin myopathy.

Science.gov (United States)

Taylor, Beth A; Lorson, Lindsay; White, C Michael; Thompson, Paul D

2015-02-01

Coenzyme Q10 (CoQ10) supplementation is the most popular therapy for statin myalgia among both physicians and patients despite limited and conflicting evidence of its efficacy. This study examined the effect of coenzyme Q10 (CoQ10) supplementation on simvastatin-associated muscle pain, muscle strength and aerobic performance in patients with confirmed statin myalgia. Statin myalgia was confirmed in 120 patients with prior symptoms of statin myalgia using an 8-week randomized, double-blind crossover trial of simvastatin 20 mg/d and placebo. Forty-one subjects developed muscle pain with simvastatin but not with placebo and were randomized to simvastatin 20 mg/d combined with CoQ10 (600 mg/d ubiquinol) or placebo for 8 weeks. Muscle pain (Brief Pain Inventory [BPI]), time to pain onset, arm and leg muscle strength, and maximal oxygen uptake (VO2max) were measured before and after each treatment. Serum CoQ10 increased from 1.3 ± 0.4 to 5.2 ± 2.3 mcg/mL with simvastatin and CoQ10, but did not increase with simvastatin and placebo (1.3 ± 0.3 to 0.8 ± 0.2) (p pain severity and interference scores increased with simvastatin therapy (both p muscle strength or VO2max with simvastatin with or without CoQ10 (all p > 0.10). Marginally more subjects reported pain with CoQ10 (14 of 20 vs 7 of 18; p = 0.05). There was no difference in time to pain onset in the CoQ10 (3.0 ± 2.0 weeks) vs. placebo (2.4 ± 2.1 wks) groups (p = 0.55). A similar lack of CoQ10 effect was observed in 24 subjects who were then crossed over to the alternative treatment. Only 36% of patients complaining of statin myalgia develop symptoms during a randomized, double-blind crossover of statin vs placebo. CoQ10 supplementation does not reduce muscle pain in patients with statin myalgia. Trial RegistrationNCT01140308; www.clinicaltrials.gov. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Missionary Ethics in Q 10:2−12

Directory of Open Access Journals (Sweden)

Dieter T. Roth

2012-06-01

Full Text Available Elements of the mission discourse of the Synoptic Gospels are found in Mark 6:6b−13; Matthew 9:35−10:15; Luke 9:1−6 and Luke 10:1−20. Similarities and differences in these accounts have led many New Testament scholars to posit the presence of a mission discourse in Q. This discourse, along with the parable that introduces it (Q 10:2, provides insight into how Q conceives of ‘mission’ as well as the ethical principles and precepts that are part of Jesus’ missional charge in this document. Through an intertextual approach to Q, with particular emphasis on narrative structure and imagery, this paper considered the interplay of mission and ethics in this early Christian text.

Prevalence and clinical significance of anti-C1q antibodies in ...

African Journals Online (AJOL)

Asmaa Hegazy

2012-04-21

Apr 21, 2012 ... sists of 20 patients with musculoskeletal manifestations, mainly arthritis ... C1q have been found in many different autoimmune diseases, ... improve our diagnostic potential, from these, anti-C1q anti- ... Subjects and methods.

Hormonal Influence on Coenzyme Q10 Levels in Blood Plasma

Directory of Open Access Journals (Sweden)

Alfredo Pontecorvi

2011-12-01

Full Text Available Coenzyme Q10 (CoQ10, also known as ubiquinone for its presence in all body cells, is an essential part of the cell energy-producing system. However, it is also a powerful lipophilic antioxidant protecting lipoproteins and cell membranes. Due to these two actions, CoQ10 is commonly used in clinical practice in chronic heart failure, male infertility, and neurodegenerative disease. However, it is also taken as an anti-aging substance by healthy people aiming for long-term neuroprotection and by sportsmen to improve endurance. Many hormones are known to be involved in body energy regulation, in terms of production, consumption and dissipation, and their influence on CoQ10 body content or blood values may represent an important pathophysiological mechanism. We summarize the main findings of the literature about the link between hormonal systems and circulating CoQ10 levels. In particular the role of thyroid hormones, directly involved in the regulation of energy homeostasis, is discussed. There is also a link with gonadal and adrenal hormones, partially due to the common biosynthetic pathway with CoQ10, but also to the increased oxidative stress found in hypogonadism and hypoadrenalism.

q-Sumudu transforms of q-analogues of Bessel functions.

Science.gov (United States)

Uçar, Faruk

2014-01-01

The main purpose of this paper is to evaluate q-Sumudu transforms of a product of q-Bessel functions. Interesting special cases of theorems are also discussed. Further, the results proved in this paper may find certain applications of q-Sumudu transforms to the solutions of the q-integrodifferential equations involving q-Bessel functions. The results may help to extend the q-theory of orthogonal functions.

Genome scan of human systemic lupus erythematosus: Evidence for linkage on chromosome 1q in African-American pedigrees

Science.gov (United States)

Moser, Kathy L.; Neas, Barbara R.; Salmon, Jane E.; Yu, Hua; Gray-McGuire, Courtney; Asundi, Neeraj; Bruner, Gail R.; Fox, Jerome; Kelly, Jennifer; Henshall, Stephanie; Bacino, Debra; Dietz, Myron; Hogue, Robert; Koelsch, Gerald; Nightingale, Lydia; Shaver, Tim; Abdou, Nabih I.; Albert, Daniel A.; Carson, Craig; Petri, Michelle; Treadwell, Edward L.; James, Judith A.; Harley, John B.

1998-01-01

Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by production of autoantibodies against intracellular antigens including DNA, ribosomal P, Ro (SS-A), La (SS-B), and the spliceosome. Etiology is suspected to involve genetic and environmental factors. Evidence of genetic involvement includes: associations with HLA-DR3, HLA-DR2, Fcγ receptors (FcγR) IIA and IIIA, and hereditary complement component deficiencies, as well as familial aggregation, monozygotic twin concordance >20%, λs > 10, purported linkage at 1q41–42, and inbred mouse strains that consistently develop lupus. We have completed a genome scan in 94 extended multiplex pedigrees by using model-based linkage analysis. Potential [log10 of the odds for linkage (lod) > 2.0] SLE loci have been identified at chromosomes 1q41, 1q23, and 11q14–23 in African-Americans; 14q11, 4p15, 11q25, 2q32, 19q13, 6q26–27, and 12p12–11 in European-Americans; and 1q23, 13q32, 20q13, and 1q31 in all pedigrees combined. An effect for the FcγRIIA candidate polymorphism) at 1q23 (lod = 3.37 in African-Americans) is syntenic with linkage in a murine model of lupus. Sib-pair and multipoint nonparametric analyses also support linkage (P 2.0). Our results are consistent with the presumed complexity of genetic susceptibility to SLE and illustrate racial origin is likely to influence the specific nature of these genetic effects. PMID:9843982

Restriction of the Patau syndrome to duplication of 13q22{yields}q.32 and possible role of interphase nuclear structure

Energy Technology Data Exchange (ETDEWEB)

Helali, A.N.; Jafolla, A.K.; Oumsiych, M.B. [Duke Univ. Medical Center, Durham, NC (United States)

1994-09-01

A 10-year-old white male presented with mild microcephaly, slight growth and psychomotor retardation, soft fleshy ears, and normal facial features except for thin lips. No other significant anomalies were reported except for tethered cord discovered at age 8 years. The karyotype was found to be 46,XY,der(18)t(13;18)(q32;p11.32)pat. The mild phenotype appears to be primarily due to the duplication of 13q32{yields}qter. None of the cardinal features of trisomy 13 are found in cases of duplication of bands 13q22 to qter. This case shows that Patau syndrome phenotype does not originate by duplication of 13q32{yields}qter and may thus be restricted to 13q22 to 13q32. The variability in phenotypes points to an alternative explanation to the classical one of additive and interactive gene effects. This model involves effects of changes in chromosome position in the interphase nucleus on gene expression.

On the maximum Q in feedback controlled subignited plasmas

International Nuclear Information System (INIS)

Anderson, D.; Hamnen, H.; Lisak, M.

1990-01-01

High Q operation in feedback controlled subignited fusion plasma requires the operating temperature to be close to the ignition temperature. In the present work we discuss technological and physical effects which may restrict this temperature difference. The investigation is based on a simplified, but still accurate, 0=D analytical analysis of the maximum Q of a subignited system. Particular emphasis is given to sawtooth ocsillations which complicate the interpretation of diagnostic neutron emission data into plasma temperatures and may imply an inherent lower bound on the temperature deviation from the ignition point. The estimated maximum Q is found to be marginal (Q = 10-20) from the point of view of a fusion reactor. (authors)

Normative Data for Interpreting the BREAST-Q: Augmentation

Science.gov (United States)

Mundy, Lily R.; Homa, Karen; Klassen, Anne F.; Pusic, Andrea L.; Kerrigan, Carolyn L.

2016-01-01

Background The BREAST-Q is a rigorously developed, well-validated, patient-reported outcome (PRO) instrument with a module designed for evaluating breast augmentation outcomes. However, there are no published normative BREAST-Q scores, limiting interpretation. Methods Normative data were generated for the BREAST-Q Augmentation Module via the Army of Women (AOW), an online community of women (with and without breast cancer) engaged in breast-cancer related research. Members were recruited via email, with women 18 years or older without a history of breast cancer or breast surgery invited to participate. Descriptive statistics and a linear multivariate regression were performed. A separate analysis compared normative scores to findings from previously published BREAST-Q augmentation studies. Results The preoperative BREAST-Q Augmentation Module was completed by 1,211 women. Mean age was 54 ±24 years, mean body mass index (BMI) was 27 ±6, and 39% (n=467) had a bra cup size ≥D. Mean scores were Satisfaction with Breasts (54 ±19), Psychosocial Well-being (66 ±20), Sexual Well-being (49 ±20), and Physical Well-being (86 ±15). Women with a BMI of 30 or greater and bra cup size D or greater had lower scores. In comparison to AOW scores, published BREAST-Q augmentation scores were lower before and higher after surgery for all scales except Physical Well-being. Conclusions The AOW normative data represent breast-related satisfaction and well-being in woman not actively seeking breast augmentation. This data may be used as normative comparison values for those seeking and undergoing surgery as we did, demonstrating the value of breast augmentation in this patient population. PMID:28350657

The Possible Heavy Tetraquarks $qQ\\bar q \\bar Q$, $qq\\bar Q \\bar Q$ and $qQ\\bar Q \\bar Q$

OpenAIRE

Cui, Ying; Chen, Xiao-Lin; Deng, Wei-Zhen; Zhu, Shi-Lin

2006-01-01

Assuming X(3872) is a $qc \\bar q \\bar c$ tetraquark and using its mass as input, we perform a schematic study of the masses of possible heavy tetraquarks using the color-magnetic interaction with the flavor symmetry breaking corrections.

MEASUREMENT OF THE HIGH-FIELD Q-DROP IN A LARGE-GRAIN NIOBIUM CAVITY FOR DIFFERENT OXIDATION PROCESSES

International Nuclear Information System (INIS)

Gianluigi Ciovati; Peter Kneisel; Alex Gurevich

2008-01-01

In this contribution, we present the results from a series of RF tests at 1.7 K and 2.0 K on a single-cell cavity made of high-purity large (with area of the order of few cm2) grain niobium which underwent various oxidation processes. After initial buffered chemical polishing, anodization, baking in pure oxygen atmosphere and baking in air up to 180 C was applied with the objective of clearly identifying the role of oxygen and the oxide layer on the Q-drop. During each rf test a temperature mapping system was used allowing to measure the local temperature rise of the cavity outer surface due to RF losses, which gives information about the losses location, their field dependence and space distribution on the RF surface. The results confirmed that the depth affected by baking is about 20-30 nm from the surface and showed that the Q-drop did not re-appear in a previously baked cavity by further baking at 120 C in pure oxygen atmosphere or in air up to 180 C. A statistic of the position of the ''hot-spots'' on the cavity surface showed that grain-boundaries are not the preferred location. An interesting correlation was found between the Q-drop onset, the quench field and the low-field energy gap, which supports the hypothesis of thermomagnetic instability governing the Q-drop and the baking effect.

MEASUREMENT OF THE HIGH-FIELD Q-DROP IN A LARGE-GRAIN NIOBIUM CAVITY FOR DIFFERENT OXIDATION PROCESSES

Energy Technology Data Exchange (ETDEWEB)

Gianluigi Ciovati; Peter Kneisel; Alex Gurevich

2008-01-23

In this contribution, we present the results from a series of RF tests at 1.7 K and 2.0 K on a single-cell cavity made of high-purity large (with area of the order of few cm2) grain niobium which underwent various oxidation processes. After initial buffered chemical polishing, anodization, baking in pure oxygen atmosphere and baking in air up to 180 °C was applied with the objective of clearly identifying the role of oxygen and the oxide layer on the Q-drop. During each rf test a temperature mapping system was used allowing to measure the local temperature rise of the cavity outer surface due to RF losses, which gives information about the losses location, their field dependence and space distribution on the RF surface. The results confirmed that the depth affected by baking is about 20 – 30 nm from the surface and showed that the Q-drop did not re-appear in a previously baked cavity by further baking at 120 °C in pure oxygen atmosphere or in air up to 180 °C. A statistic of the position of the “hot-spots” on the cavity surface showed that grain-boundaries are not the preferred location. An interesting correlation was found between the Q-drop onset, the quench field and the low-field energy gap, which supports the hypothesis of thermo-magnetic instability governing the Q-drop and the baking effect.

Discrete q-derivatives and symmetries of q-difference equations

Energy Technology Data Exchange (ETDEWEB)

Levi, D [Dipartimento di Fisica, Universita Roma Tre and INFN-Sezione di Roma Tre, Via della Vasca Navale 84, 00146 Rome (Italy); Negro, J [Departamento de FIsica Teorica, Universidad de Valladolid, E-47011, Valladolid (Spain); Olmo, M A del [Departamento de FIsica Teorica, Universidad de Valladolid, E-47011, Valladolid (Spain)

2004-03-12

In this paper we extend the umbral calculus, developed to deal with difference equations on uniform lattices, to q-difference equations. We show that many properties considered for shift invariant difference operators satisfying the umbral calculus can be implemented to the case of the q-difference operators. This q-umbral calculus can be used to provide solutions to linear q-difference equations and q-differential delay equations. To illustrate the method, we will apply the obtained results to the construction of symmetry solutions for the q-heat equation.

Acute myeloid leukemia presenting with panhypopituitarism or diabetes insipidus: a case series with molecular genetic analysis and review of the literature.

Science.gov (United States)

Cull, Elizabeth H; Watts, Justin M; Tallman, Martin S; Kopp, Peter; Frattini, Mark; Rapaport, Franck; Rampal, Raajit; Levine, Ross; Altman, Jessica K

2014-09-01

Central diabetes insipidus (DI) is a rare finding in patients with acute myeloid leukemia (AML), usually occurring in patients with chromosome 3 or 7 abnormalities. We describe four patients with AML and concurrent DI and a fifth patient with AML and panhypopituitarism. Four of five patients had monosomy 7. Three patients had chromosome 3q21q26/EVI-1 gene rearrangements. The molecular genotype of patients with AML and DI is not known. Therefore, we performed gene sequencing of 30 genes commonly mutated in AML in three patients with available leukemia cell DNA. One patient had no identifiable mutations, and two had RUNX1 F158S mutations.

The photon structure function at large Q2

International Nuclear Information System (INIS)

Cordier, A.

1987-01-01

LEP II offers the unique opportunity to measure the photon structure function over a large Q 2 range up to ∼ 2000 GeV 2 . Two crucial predictions of QCD can be tested in this experiment: the linear rise in log Q 2 as a consequence of asymptotic freedom, and the large renormalization O(1) of the shape of the structure function due to gluon bremsstrahlung, unperturbed by higher-twist effects

A.Q. Khan Nuclear Smuggling Network

Directory of Open Access Journals (Sweden)

Molly MacCalman

2016-03-01

Full Text Available Abdul Qadeer Khan, widely viewed as the father of Pakistan’s nuclear weapons program, was arrested on January 31, 2004 for his key role in the black market sale of nuclear technology and equipment to Iran, North Korea, Libya, and possibly others. A.Q. Khan’s nuclear smuggling network prospered throughout the 1980s and 1990s and was linked to middlemen and businesses in over 20 countries. The network offered buyers a menu of both technical expertise and materials with prices ranging from millions to hundreds of millions of dollars. The Khan network was ultimately exposed largely due to years of intelligence gathering by the United States and the United Kingdom. However, very few of the network’s members have been successfully prosecuted and the demand for nuclear material by both state and non-state actors continues. The exposure of Khan’s network confirmed that a non-state actor could procure and sell a turnkey nuclear weapons program to willing buyers.

Functional differential equations for the q-Fourier transform of q-Gaussians

International Nuclear Information System (INIS)

Umarov, S; Queiros, S M Duarte

2010-01-01

In this paper the question 'is the q-Fourier transform of a q-Gaussian a q'-Gaussian (with some q') up to a constant factor?' is studied for the whole range of q in (- infty, 3). This question is connected with applicability of the q-Fourier transform in the study of limit processes in nonextensive statistical mechanics. Using the functional differential equation approach we prove that the answer is affirmative if and only if 1 ≤ q < 3, excluding two particular cases of q < 1, namely q=1/2 and q=2/3. Complementarily, we discuss some applications of the q-Fourier transform to nonlinear partial differential equations such as the porous medium equation.

Functional differential equations for the q-Fourier transform of q-Gaussians

Energy Technology Data Exchange (ETDEWEB)

Umarov, S [Department of Mathematics, Tufts University, Medford, MA (United States); Queiros, S M Duarte, E-mail: sdqueiro@gmail.co [Unilever R and D Port Sunlight, Quarry Road East, Wirral, CH63 3JW (United Kingdom)

2010-02-05

In this paper the question 'is the q-Fourier transform of a q-Gaussian a q'-Gaussian (with some q') up to a constant factor?' is studied for the whole range of q in (- infty, 3). This question is connected with applicability of the q-Fourier transform in the study of limit processes in nonextensive statistical mechanics. Using the functional differential equation approach we prove that the answer is affirmative if and only if 1 <= q < 3, excluding two particular cases of q < 1, namely q=1/2 and q=2/3. Complementarily, we discuss some applications of the q-Fourier transform to nonlinear partial differential equations such as the porous medium equation.

q-Deformed KP Hierarchy and q-Deformed Constrained KP Hierarchy

OpenAIRE

He, Jingsong; Li, Yinghua; Cheng, Yi

2006-01-01

Using the determinant representation of gauge transformation operator, we have shown that the general form of $au$ function of the $q$-KP hierarchy is a $q$-deformed generalized Wronskian, which includes the $q$-deformed Wronskian as a special case. On the basis of these, we study the $q$-deformed constrained KP ($q$-cKP) hierarchy, i.e. $l$-constraints of $q$-KP hierarchy. Similar to the ordinary constrained KP (cKP) hierarchy, a large class of solutions of $q$-cKP hierarchy can be represent...

Q-Thruster Breadboard Campaign Project

Science.gov (United States)

White, Harold

2014-01-01

Dr. Harold "Sonny" White has developed the physics theory basis for utilizing the quantum vacuum to produce thrust. The engineering implementation of the theory is known as Q-thrusters. During FY13, three test campaigns were conducted that conclusively demonstrated tangible evidence of Q-thruster physics with measurable thrust bringing the TRL up from TRL 2 to early TRL 3. This project will continue with the development of the technology to a breadboard level by leveraging the most recent NASA/industry test hardware. This project will replace the manual tuning process used in the 2013 test campaign with an automated Radio Frequency (RF) Phase Lock Loop system (precursor to flight-like implementation), and will redesign the signal ports to minimize RF leakage (improves efficiency). This project will build on the 2013 test campaign using the above improvements on the test implementation to get ready for subsequent Independent Verification and Validation testing at Glenn Research Center (GRC) and Jet Propulsion Laboratory (JPL) in FY 2015. Q-thruster technology has a much higher thrust to power than current forms of electric propulsion (7x Hall thrusters), and can significantly reduce the total power required for either Solar Electric Propulsion (SEP) or Nuclear Electric Propulsion (NEP). Also, due to the high thrust and high specific impulse, Q-thruster technology will greatly relax the specific mass requirements for in-space nuclear reactor systems. Q-thrusters can reduce transit times for a power-constrained architecture.

Bose-Einstein correlation and Q-υKυ(Q) distribution

International Nuclear Information System (INIS)

Dai Qirun; Zhao Shusong

1995-01-01

Bose-Einstein correlation is one of the most useful means to study the source emitting hadrons. Based on the non-perturbative theory of quantum fields, we have proposed a kind of source distribution, i.e., the Q -υ K υ (Q) distribution, which is applied to calculate single inclusion distribution of P // , P perpecular , N, Y and the correlation with each other, i.e., Seagull effect. The results have a better approximation to the corresponding experimental data. The paper emphasizes the calculation of Bose-Einstein correlation for inclusive two particle based on the Q -υ K υ (Q) distribution. The fitted curves agree with experimental data, especially, in the small Q range. The Q -υ K υ (Q) distribution is a more advanced theory as compared with Gauss source and K-P source distribution

Microglial inhibitory mechanism of Coenzyme Q10 against Aβ (1-42 induced cognitive dysfunctions: possible behavioral, biochemical, cellular and histopathological alterations

Directory of Open Access Journals (Sweden)

Arti eSingh

2015-11-01

Full Text Available Rationale: Alzheimer’s disease (AD is a debilitating disease with complex pathophysiology. Amyloid beta (Aβ (1-42 is a reliable model of AD that recapitulates many aspects of human AD. Objective: The present study has been designed to investigate the neuroprotective potential of Coenzyme Q10 (CoQ10 and its modulation with minocycline (microglial inhibitor against Aβ (1-42 induced cognitive dysfunction in rats. Method: Intrahippocampal (i.h. Aβ (1-42 (1µg/µl; 4µl/site were administered followed by drug treatment with galantamine (2 mg/kg, CoQ10 (20 and 40 mg/kg, minocycline (50 and 100 mg/kg and their combinations for a period of 21 days. Various neurobehavioral parameters followed by biochemical, acetylcholinesterase (AChE level, proinflammatory markers (TNF-α, mitochondrial respiratory enzyme complexes (I-IV and histopathological examinations were assessed.Results: Aβ (1-42 administration significantly impaired cognitive performance in Morris water maze (MWM performance test, causes oxidative stress, raised AChE level, caused neuroinflammation, mitochondrial dysfunction and histopathological alterations as compared to sham treatment. Treatment with CoQ10 (20 and 40 mg/kg and minocycline (50 and 100 mg/kg alone for 21days significantly improved cognitive performance as evidenced by reduced transfer latency and increased time spent in target quadrant (TSTQ, reduced AChE activity, oxidative damage (reduced LPO, nitrite level and restored SOD, catalase and GHS levels, TNF-α level, restored mitochondrial respiratory enzyme complex (I, II, III, IV activities and histopathological alterations as compared to control (Aβ (1-42 treated animals group. Further, combination of minocycline (50 and 100 mg/kg with CoQ10 (20 and 40 mg/kg significantly modulate the protective effect of CoQ10 as compared to their effect alone. Conclusion: The present study suggests that the neuroprotective effect of CoQ10 could be due to its microglia inhibitory

Acute changes in serum immune markers due to swimming in a chlorinated pool.

Science.gov (United States)

Vlaanderen, Jelle; van Veldhoven, Karin; Font-Ribera, Laia; Villanueva, Cristina M; Chadeau-Hyam, Marc; Portengen, Lützen; Grimalt, Joan O; Zwiener, Christian; Heederik, Dick; Zhang, Xiangru; Vineis, Paolo; Kogevinas, Manolis; Vermeulen, Roel

2017-08-01

Exposure to disinfectants and disinfection byproducts (DBPs) due to swimming in chlorinated water has been associated with allergic and respiratory health effects, including asthma. Biological mechanisms contributing to these associations are largely unknown. We hypothesized a potential pathway involving modulation of the immune system. We assessed levels of immune markers (CCL11, CCL22, CXCL10, CRP, EGF, GCSF, IL-8, IL-17, IL-1RA, MPO, VEGF, Periostin) in serum collected from 30 women and 29 men before and after 40min of swimming in a chlorinated pool. Exposure to DBPs was assessed by measuring bromodichloromethane, bromoform, chloroform, and dibromochloromethane in exhaled breath before and after swimming. Covariate data including information on physical activity was available through questionnaires and measurements. We assessed the association between indicators of swimming in a chlorinated pool and changes in serum immune marker concentrations using linear regression with bivariate normal distributions and adjusted for multiple comparisons by applying the Benjamini-Hochberg procedure. We observed a significant decrease in serum concentrations of IL-8 (-12.53%; q=2.00e-03), CCL22 (-7.28%; q=4.00e-04), CCL11 (-7.15%; q=9.48e-02), CRP (-7.06%; q=4.68e-05), and CXCL10 (-13.03%; q=6.34e-14) and a significant increase in IL-1RA (20.16%; q=4.18e-06) from before to after swimming. Associations with quantitative measurements of DBPs or physical activity were similar in direction and strength. Most of the observed associations became non-significant when we adjusted the effects of exposure to DBPs for physical activity or vice-versa. Our study indicates that swimming in a chlorinated pool induces perturbations of the immune response through acute alterations of patterns of cytokine and chemokine secretion. The observed effects could not be uniquely attributed to either exposure to DBPs or physical activity. Evidence in the literature suggests that observed decreases in

Comparison of q anti qg and q anti qγ events in e+e- annihilation at PEP

International Nuclear Information System (INIS)

Hofmann, W.

1986-07-01

In comparing the particle flow in the event plane of three-jet (q anti qg) events and of radiative annihilation events (q anti qγ) for similar kinematic configurations, two PEP experiments find a significant decrease in particle density in the angular region opposite to the gluon jet in q anti qg events, relative to the particle density in the region opposite to the photon in q anti qγ events. The effect is predicted both by QCD and by phenomenological string models. 5 refs., 5 figs

q-conformally covariant q-Minkowski space-time and invariant equations

International Nuclear Information System (INIS)

Dobrev, V.K.

1997-09-01

We present explicitly the covariant action of the q-conformal algebra on the q-Minkowski space we proposed earlier. We also present some q-conformally invariant equations, namely a hierarchy of q-Maxwell equations, and also a q-d'Alembert equation, proposed earlier by us, in a form different from the original . (author). 19 refs

Measuring molecular abundances in comet C/2014 Q2 (Lovejoy) using the APEX telescope

Science.gov (United States)

de Val-Borro, M.; Milam, S. N.; Cordiner, M. A.; Charnley, S. B.; Coulson, I. M.; Remijan, A. J.; Villanueva, G. L.

2018-02-01

Comet composition provides critical information on the chemical and physical processes that took place during the formation of the Solar system. We report here on millimetre spectroscopic observations of the long-period bright comet C/2014 Q2 (Lovejoy) using the Atacama Pathfinder Experiment (APEX) band 1 receiver between 2015 January UT 16.948 and 18.120, when the comet was at heliocentric distance of 1.30 au and geocentric distance of 0.53 au. Bright comets allow for sensitive observations of gaseous volatiles that sublimate in their coma. These observations allowed us to detect HCN, CH3OH (multiple transitions), H2CO and CO, and to measure precise molecular production rates. Additionally, sensitive upper limits were derived on the complex molecules acetaldehyde (CH3CHO) and formamide (NH2CHO) based on the average of the strongest lines in the targeted spectral range to improve the signal-to-noise ratio. Gas production rates are derived using a non-LTE molecular excitation calculation involving collisions with H2O and radiative pumping that becomes important in the outer coma due to solar radiation. We find a depletion of CO in C/2014 Q2 (Lovejoy) with a production rate relative to water of 2.0 per cent, and relatively low abundances of Q(HCN)/Q(H2O), 0.1 per cent, and Q(H2CO)/Q(H2O), 0.2 per cent. In contrast, the CH3OH relative abundance Q(CH3OH)/Q(H2O), 2.2 per cent, is close to the mean value observed in other comets. The measured production rates are consistent with values derived for this object from other facilities at similar wavelengths taking into account the difference in the fields of view. Based on the observed mixing ratios of organic molecules in four bright comets including C/2014 Q2, we find some support for atom addition reactions on cold dust being the origin of some of the molecules.

Enabling ICH Q10 Implementation--Part 1. Striving for Excellence by Embracing ICH Q8 and ICH Q9.

Science.gov (United States)

Calnan, Nuala; O'Donnell, Kevin; Greene, Anne

2013-01-01

This article is the first in a series of articles that will focus on understanding the implementation essentials necessary to deliver operational excellence through a International Conference on Harmonisation of Technical Requirements for Registration of Pharmaceuticals for Human Use (ICH) Q10-based pharmaceutical quality system (PQS). The authors examine why, despite the fact that the ICH Q10 guideline has been with us since 2008, the transformation of the traditional Quality Management Systems QMS in use within the pharmaceutical industry is a work in progress for only a few forward-thinking organisations. Unfortunately, this transformation remains a mere aspiration for the majority of organisations. We explore the apparent lack of progress by the pharmaceutical sector in adopting six sigma and related quality management techniques to ensure the availability of high-quality medicines worldwide. The authors propose that the desired progress can be delivered through two key shifts in our current practices; by embodying the principles of operational excellence in every aspect of our business and by learning how to unlock the scientific and tacit knowledge within our organisations. It has been ten years since The Wall Street Journal revealed the pharmaceutical industry's "little secret" comparing the perceived level of manufacturing expertise in the industry as lagging far behind those of potato-chip and laundry-soap makers. Would you consider the quality and manufacturing strategies in place today in your organisation to be more efficient and scientifically based than those of 2003? If so, what evidence exists for you to draw any conclusion regarding enhanced performance? Do your current practices drive innovation and facilitate continual improvement and if so, how? Ultimately, can you confidently affirm that patient-related risks associated with the product(s) manufactured by your organisation have been reduced due to the quality assurance program now applied

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.

Measurement of the high-field Q-drop in a high-purity large-grain niobium cavity for different oxidation processes

Energy Technology Data Exchange (ETDEWEB)

Ciovati, Gianluigi; Kneisel, Peter; gurevich, alex

2007-06-01

The most challenging issue for understanding the performance of superconducting radio-frequency (rf) cavities made of high-purity (residual resistivity ratio > 200) niobium is due to a sharp degradation (“Q-drop”) of the cavity quality factor Q0(Bp) as the peak surface magnetic field (Bp) exceeds about 90 mT, in the absence of field emission. In addition, a low-temperature (100 – 140 C) “in-situ” baking of the cavity was found to be beneficial in reducing the Q-drop. In this contribution, we present the results from a series of rf tests at 1.7 K and 2.0 K on a single-cell cavity made of high-purity large (with area of the order of few cm2) grain niobium which underwent various oxidation processes, after initial buffered chemical polishing, such as anodization, baking in pure oxygen atmosphere and baking in air up to 180 °C, with the objective of clearly identifying the role of oxygen and the oxide layer on the Q-drop. During each rf test a temperature mapping system allows measuring the local temperature rise of the cavity outer surface due to rf losses, which gives information about the losses location, their field dependence and space distribution. The results confirmed that the depth affected by baking is about 20 – 30 nm from the surface and showed that the Q-drop did not re-appear in a previously baked cavity by further baking at 120 °C in pure oxygen atmosphere or in air up to 180 °C. These treatments increased the oxide thickness and oxygen concentration, measured on niobium samples which were processed with the cavity and were analyzed with Transmission Electron Microscope (TEM) and Secondary Ion Mass Spectroscopy (SIMS). Nevertheless, the performance of the cavity after air baking at 180 °C degraded significantly and the temperature maps showed high losses, uniformly distributed on the surface, which could be completely recovered only by a post-purification treatment at 1250 °C. A statistic of the position of the “hot-spots” on the

Measurement of the high-field Q drop in a high-purity large-grain niobium cavity for different oxidation processes

Directory of Open Access Journals (Sweden)

G. Ciovati

2007-06-01

Full Text Available The most challenging issue for understanding the performance of superconducting radio-frequency (rf cavities made of high-purity (residual resistivity ratio >200 niobium is due to a sharp degradation (“Q-drop” of the cavity quality factor Q_{0}(B_{p} as the peak surface magnetic field (B_{p} exceeds about 90 mT, in the absence of field emission. In addition, a low-temperature (100–140°C in situ baking of the cavity was found to be beneficial in reducing the Q-drop. In this contribution, we present the results from a series of rf tests at 1.7 and 2.0 K on a single-cell cavity made of high-purity large (with area of the order of few cm^{2} grain niobium which underwent various oxidation processes, after initial buffered chemical polishing, such as anodization, baking in pure oxygen atmosphere, and baking in air up to 180°C, with the objective of clearly identifying the role of oxygen and the oxide layer on the Q-drop. During each rf test a temperature mapping system allows measuring the local temperature rise of the cavity outer surface due to rf losses, which gives information about the losses location, their field dependence, and space distribution. The results confirmed that the depth affected by baking is about 20–30 nm from the surface and showed that the Q-drop did not reappear in a previously baked cavity by further baking at 120°C in pure oxygen atmosphere or in air up to 180°C. These treatments increased the oxide thickness and oxygen concentration, measured on niobium samples which were processed with the cavity and were analyzed with transmission electron microscope and secondary ion mass spectroscopy. Nevertheless, the performance of the cavity after air baking at 180°C degraded significantly and the temperature maps showed high losses, uniformly distributed on the surface, which could be completely recovered only by a postpurification treatment at 1250°C. A statistic of the position of the “hot spots” on the

Exotic tetraquark states with the qq anti Q anti Q configuration

Energy Technology Data Exchange (ETDEWEB)

Luo, Si-Qiang; Chen, Kan; Liu, Xiang [Lanzhou University, School of Physical Science and Technology, Lanzhou (China); Lanzhou University and Institute of Modern Physics, CAS, Research Center for Hadron and CSR Physics, Lanzhou (China); Liu, Yan-Rui [Shandong University, School of Physics and Key Laboratory of Particle Physics and Particle Irradiation (MOE), Jinan (China); Zhu, Shi-Lin [Peking University, School of Physics and State Key Laboratory of Nuclear Physics and Technology, Beijing (China); Collaborative Innovation Center of Quantum Matter, Beijing (China); Peking University, Center for High Energy Physics, Beijing (China)

2017-10-15

In this work, we study systematically the mass splittings of the qq anti Q anti Q (q = u, d, s and Q = c, b) tetraquark states with the color-magnetic interaction by considering color mixing effects and estimate roughly their masses. We find that the color mixing effect is relatively important for the J{sup P} = 0{sup +} states and possible stable tetraquarks exist in the nn anti Q anti Q (n = u, d) and ns anti Q anti Q systems either with J = 0 or with J = 1. Possible decay patterns of the tetraquarks are briefly discussed. (orig.)

Absorption band Q model for the earth

International Nuclear Information System (INIS)

Anderson, D.L.; Given, J.W.

1982-01-01

Body wave, surface wave, and normal mode data are used to place constraints on the frequency dependence of Q in the mantle. With a simple absorption band model it is possible to satisfy the shear sensitive data over a broad frequency range. The quality factor Q/sub s/(ω) is proportional to ω/sup α/ in the band and to ω and ω -1 at higher and lower frequencies, respectively, as appropriate for a relaxation mechanism with a spectrum of relaxation time. The parameters of the band are Q(min) = 80, α = 0.15, and width, 5 decades. The center of the band varies from 10 1 seconds in the upper mantle, to 1.6 x 10 3 seconds in the lower mantle. The shift of the band with depth is consistent with the expected effects of temperature, pressure and stress. High Q, regions of the mantle are attributed to a shift of the absorption band to longer periods. To satisfy the gravest fundamental spheroidal modes and the ScS data, the absorption band must shift back into the short-period seismic band at the base of the mantle. This may be due to a high temperature gradient or high shear stresses. A preliminary attempt is also made to specify bulk dissipation in the mantle and core. Specific features of the absorption band model are low Q in the body wave band at both the top and the base of the mantle, low Q for long-period body waves in the outer core, an inner core Q 2 that increases with period, and low Q/sub p//Q/sub s/ at short periods in the middle mantel. The short-period Q/sub s/ increases rapidly at 400 km and is relatively constant from this depth to 2400 km. The deformational Q of the earth at a period of 14 months is predicted to be 463

Determination of the quality index (Q) for photon beams at arbitrary field sizes.

Science.gov (United States)

Sauer, Otto A

2009-09-01

A commonly used beam quality index (Q) for high-energy photon beams is the tissue phantom ratio (TPR20,10) for a square field of 10 x 10 cm2 and SDD of 100 cm. On some specialized radiotherapy treatment equipment such a reference collimator setting is not achievable. Likewise a flat beam profile, not explicitly required in dosimetry protocols, but certainly influences the measurement of Q, is not always produced. In this work, a method was developed in order to determine Q at any field size, especially for small and nonflattened beams. An analytical relationship was derived between TPR20,10 for arbitrary field sizes and Q [the TPR20,10 (10 x 10 cm2)] as quality index. The proposed model equation was fitted to the measured and published data in order to achieve three general fit parameters. The procedure was then tested with published data from TomoTherapy and CyperKnife treatment devices. For standard flattened photon fields, the uncertainty in Q measured at any field size using the parameters derived from this study is better than 1%. In flattening-filter free beams, the proposed procedure results in a reliable Q for any field size setting. A method is introduced and successfully tested in order to measure the beam quality under nonstandard conditions. It can be used, e.g., to get energy dependent correction factors as tabulated in dosimetry codes of practice even if standard conditions are not adjustable.

Clinical, Molecular, and Prognostic Significance of WHO Type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and Various Other 3q Abnormalities in Acute Myeloid Leukemia

NARCIS (Netherlands)

Lugthart, Sanne; Groschel, Stefan; Beverloo, H. Berna; Kayser, Sabine; Valk, Peter J. M.; van Zelderen-Bhola, Shama Lydia; Ossenkoppele, Gert Jan; Vellenga, Edo; van den Berg-de Ruiter, Eva; Schanz, Urs; Verhoef, Gregor; Vandenberghe, Peter; Ferrant, Augustin; Kohne, Claus-Henning; Pfreundschuh, Michael; Horst, Heinz A.; Koller, Elisabeth; von Lilienfeld-Toal, Marie; Bentz, Martin; Ganser, Arnold; Schlegelberger, Brigitte; Jotterand, Martine; Krauter, Jurgen; Pabst, Thomas; Theobald, Matthias; Schlenk, Richard F.; Delwel, Ruud; Dohner, Konstanze; Lowenberg, Bob; Doehner, Hartmut

2010-01-01

Purpose Acute myeloid leukemia (AML) with inv(3)(q21q26.2)/t(3; 3)(q21; q26.2) inv(3)/t(3; 3)] is recognized as a distinctive entity in the WHO classification. Risk assignment and clinical and genetic characterization of AML with chromosome 3q abnormalities other than inv(3)/t(3; 3) remain largely

Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

Science.gov (United States)

Hemmat, Morteza; Hemmat, Omid; Anguiano, Arturo; Boyar, Fatih Z; El Naggar, Mohammed; Wang, Jia-Chi; Wang, Borris T; Sahoo, Trilochan; Owen, Renius; Haddadin, Mary

2013-05-02

Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of recombinant chromosome 4 have been reported. We describe the second case in which array-CGH was used to characterize recombinant chromosome 4 syndrome. The patient was a one-year old boy with consistent clinical features. Conventional cytogenetics and FISH documented a recombinant chromosome 4, derived from a paternal pericentric inversion, leading to partial trisomy 4p and partial monosomy of 4q. Array-CGH, performed to further characterize the rearranged chromosome 4 and delineate the breakpoints, documented a small (4.36 Mb) 4q35.1 terminal deletion and a large (23.81 Mb) 4p15.1 terminal duplication. Genotype-phenotype analysis of 10 previously reported cases and the present case indicated relatively consistent clinical features and breakpoints. This consistency was more evident in our case and another characterized by array-CGH, where both showed the common breakpoints of p15.1 and q35.1. A genotype-phenotype correlation study between rec(4), dup(4p), and del(4q) syndromes revealed that urogenital and cardiac defects are probably due to the deletion of 4q whereas the other clinical features are likely due to 4p duplication. Our findings support that the clinical features of patients with rec(4) are relatively consistent and specific to the regions of duplication or deletion. Recombinant chromosome 4 syndrome thus appears to be a discrete entity that can be suspected on the basis of clinical features or specific deleted and duplicated chromosomal regions.

New Complex Chromosomal Translocation in Chronic Myeloid Leukaemia: t(9;18;22(q34;p11;q11

Directory of Open Access Journals (Sweden)

Abdeljabar El Andaloussi

2007-01-01

Full Text Available A Chronic myeloid leukaemia (CML case with a new complex t(9;18;22(q34;p11;q11 of a 29-year-old man is being reported. For the first time, this translocation has been characterized by karyotype complemented with fluorescence in situ hybridization (FISH. In CML, the complex and standard translocations have the same prognosis. The patient was treated with standard initial therapy based on hydroxyurea before he died due to heart failure four months later. Our finding indicates the importance of combined cytogenetic analysis for diagnosis and guidance of treatment in clinical diagnosis of CML.

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

DEFF Research Database (Denmark)

Jespersgaard, Cathrine; Damgaard, Ida N; Cornelius, Nanna

2016-01-01

of the region from 32.3 Mb to 37.1 Mb was more crucial than the deletion of other regions. CASE PRESENTATION: In this study we describe a female patient with dysmorphic features, hepatomegaly, thick myocardium and psychomotor delay. Conventional karyotyping was initially interpreted as full monosomy 21...

q-Bernoulli numbers and q-Bernoulli polynomials revisited

Directory of Open Access Journals (Sweden)

Kim Taekyun

2011-01-01

Full Text Available Abstract This paper performs a further investigation on the q-Bernoulli numbers and q-Bernoulli polynomials given by Acikgöz et al. (Adv Differ Equ, Article ID 951764, 9, 2010, some incorrect properties are revised. It is point out that the generating function for the q-Bernoulli numbers and polynomials is unreasonable. By using the theorem of Kim (Kyushu J Math 48, 73-86, 1994 (see Equation 9, some new generating functions for the q-Bernoulli numbers and polynomials are shown. Mathematics Subject Classification (2000 11B68, 11S40, 11S80

Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.

Science.gov (United States)

Balci, Sevim; Tümer, Celal; Karaca, Ciğdem; Bartsch, Oliver

2011-05-01

We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is the first report of a mother with a supernumerary ring (18) and a son with ring (18) mosaicism. Interestingly, the son showed a true mosaicism (mixoploidy) of ring (18) and normal cells. The mother's 46,XX cells could be easily explained by mitotic instability and ring loss during cell division. However, the coexistence of ring (18) and normal cells in the son is unusual. Possibly, during early postzygotic divisions of a 47,XY,+r(18) zygote, two (possibly subsequent) genetic events could have occurred, one when one normal chromosome 18 was lost (resulting in a cell line with ring 18), and one when the ring 18 was lost (resulting in a cell line without ring, "escape to normal"). Alternatively, the zygote of the son could have been 46,XY,r(18), and postzygotic loss of the ring 18 could have resulted in monosomy 18 cells followed by duplication of chromosome 18 in these cells (a rare mechanism for cell survival previously described as "compensatory" isodisomy). Copyright © 2011 Wiley-Liss, Inc.

Chromosomal sensitivity to X-rays in lymphocytes from patients with Turner syndrome

International Nuclear Information System (INIS)

Heras, J.G.; Coco, R.

1986-01-01

Lymphocytes from patients with Turner syndrome were irradiated with X-rays to determine the chromosomal aberration frequency in first-division metaphases. Five patients with 45,X karyotype; three 45,X/46,Xi(X)q mosaics; one 45,X/47,XXX mosaic and 9 female controls were studied. Patients with a 45,X karyotype exhibited a radioinduced chromosomal aberration frequency similar to controls. In the mosaics, 45,X cells has a mean frequency of 38.75 +- 2.16; 46,Xi(X)q cells a mean of 38 +- 2.16 and the control group a rate of 36.25 +- 4.32. No differences were observed between 45,X and 46,Xi(X)q cells, 45,X and normal cells or 46,Xi(X)q and normal cells. Apparently neither the X monosomy nor the Xq isochromosome influences the 'in vitro' X-ray-induced chromosomal damage in Turner syndrome lymphocytes. (Auth.)

Double-β decay Q value of 150Nd

International Nuclear Information System (INIS)

Kolhinen, V. S.; Eronen, T.; Gorelov, D.; Hakala, J.; Jokinen, A.; Kankainen, A.; Moore, I. D.; Rissanen, J.; Saastamoinen, A.; Suhonen, J.; Aeystoe, J.

2010-01-01

The double-β decay Q value of 150 Nd was determined by using the JYFLTRAP Penning trap mass spectrometer. The measured mass difference between 150 Nd and 150 Sm is 3371.38(20) keV. This new value deviates by 3.7 keV from the previously adopted value of 3367.7(22) keV and is a factor of 10 more precise. Accurate knowledge of this Q value is important because 150 Nd is a primary candidate to be used in the search for neutrinoless double-β decay modes in several experiments.

Coenzyme Q10 effect in prevention of atrial fibrillation after Coronary Artery Bypass Graft: double-blind randomized clinical trial

Directory of Open Access Journals (Sweden)

Jalal Moludi

2015-05-01

Results: Thirty-eight women and forty-two men with a mean age of 58.37±7.98 years were enrolled in the study in two CoQ10 and placebo groups (each consisting of 40 patients. The incidence of postoperative AF was 45% in the control group to 20% in the intervention group decreased after supplementation (P=0.030. ICU stay and length of in-hospital stay did not significant. The incidence of arrhythmias ventricular tachycardia (VT and VF in this period was not significant (P=0.865. Conclusion: Q10 supplements have low side effects. Due to the reduction in the incidence of AF in patients after, CABG, these supplements can be recommended for the prevention of AF.

Triply heavy tetraquark states with the $QQ\\bar{Q}\\bar{q}$ configuration

OpenAIRE

Chen, Kan; Liu, Xiang; Wu, Jing; Liu, Yan-Rui; Zhu, Shi-Lin

2016-01-01

In the framework of the color-magnetic interaction, we systematically investigate the mass splittings of the $QQ\\bar{Q}\\bar{q}$ tetraquark states and estimated their rough masses in this work. These systems include the explicitly exotic states $cc\\bar{b}\\bar{q}$ and $bb\\bar{c}\\bar{q}$ and the hidden exotic states $cc\\bar{c}\\bar{q}$, $cb\\bar{b}\\bar{q}$, $bc\\bar{c}\\bar{q}$, and $bb\\bar{b}\\bar{q}$. If a state around the estimated mass region could be observed, its nature as a genuine tetraquark ...

Anomalous Q(sub 0) Results in the CEBAF South Linac

International Nuclear Information System (INIS)

William J. Schneider; M. Drury; Joe Preble

1993-01-01

While in practice, the performance of cavities - Q(sub 0) versus E(sub acc) - in the assembled CEBAF cryomodule corresponds in nearly every respect to the performance as measured in the vertical test area; there are a few cases where this is not true. On six (6) of the twenty (20) cryomodules installed in the south linac, cavity 4 specifically, and one other cavity in cryomodule 7 have an anomalous low Q(sub 0). Investigation into the source of the low Q(sub 0) on these particular cavities have centered around trapped magnetic fields, slow cooldowns or maldistribution of He flow during cooldown leading to hydride precipitation and Q(sub 0) disease. Other possibilities such as low window Q(sub 0)'s or harmonic content of the klystron were also considered. A detailed investigation to understand the phenomena leading to the low Q(sub 0)'s on cryomodule 7 and 8 is discussed. We have found evidence suggesting cooldown dependent Q(sub 0) disease as well as window heating to account for some of the discrepancies but not all. A complete explanation of the problem is still under further investigation

Complex Phenotype Associated with 17q21.31 Microdeletion

Science.gov (United States)

Dornelles-Wawruk, H.; Pic-Taylor, A.; Rosenberg, C.; Krepischi, A.C.V.; Safatle, H.P.N.; Ferrari, I.; Mazzeu, J.F.

2013-01-01

We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably the result of recombination between flanking low-copy repeats. Due to the complexity of the patient's clinical condition, together with the presence of 3 previously unreported symptoms, namely chronic anemia, cervical vertebrae arthrosis and vertebrae fusion, this case is an important addition to the existing knowledge about the 17q21.31 microdeletion syndrome. PMID:24167466

Speckle-type POZ (pox virus and zinc finger protein) protein gene deletion in ovarian cancer: Fluorescence in situ hybridization analysis of a tissue microarray.

Science.gov (United States)

Hu, Xiaoyu; Yang, Zhu; Zeng, Manman; Liu, Y I; Yang, Xiaotao; Li, Yanan; Li, X U; Yu, Qiubo

2016-07-01

The aim of the present study was to investigate the status of speckle-type POZ (pox virus and zinc finger protein) protein (SPOP) gene located on chromosome 17q21 in ovarian cancer (OC). The present study evaluated a tissue microarray, which contained 90 samples of ovarian cancer and 10 samples of normal ovarian tissue, using fluorescence in situ hybridization (FISH). FISH is a method where a SPOP-specific DNA red fluorescence probe was used for the experimental group and a centromere-specific DNA green fluorescence probe for chromosome 17 was used for the control group. The present study demonstrated that a deletion of the SPOP gene was observed in 52.27% (46/88) of the ovarian cancer tissues, but was not identified in normal ovarian tissues. Simultaneously, monosomy 17 was frequently identified in the ovarian cancer tissues, but not in the normal ovarian tissues. Furthermore, the present data revealed that the ovarian cancer histological subtype and grade were significantly associated with a deletion of the SPOP gene, which was assessed by the appearance of monosomy 17 in the ovarian cancer samples; the deletion of the SPOP gene was observed in a large proportion of serous epithelial ovarian cancer (41/61; 67.21%), particularly in grade 3 (31/37; 83.78%). In conclusion, deletion of the SPOP gene on chromosome 17 in ovarian cancer samples, which results from monosomy 17, indicates that the SPOP gene may serve as a tumor suppressor gene in ovarian cancer.

Q-phonons, Q-invariants, and company

International Nuclear Information System (INIS)

Brentano, P. von; Gade, A.; Pietralla, N.; Werner, V.

2002-01-01

The paper discusses the concept of Q-phonons and its connection to the concept of Q-invariants and the shape parameters of nuclei. It will also discuss some useful relations between Q-invariants and observables. These relations allow one to determine crucial nuclear observables such as the square of the quadrupole moment of the first 2+ state from lifetime data of the gamma- and ground band which may have applications, in future measurements with rare isotopes beams. These concepts are discussed for the Barium, Xenon and Cerium nuclei with mass numbers around A = 130, because some of these concepts were either introduced or at least heavily used in the discussion of the nuclear structure of these nuclei

q-Space Upsampling Using x-q Space Regularization.

Science.gov (United States)

Chen, Geng; Dong, Bin; Zhang, Yong; Shen, Dinggang; Yap, Pew-Thian

2017-09-01

Acquisition time in diffusion MRI increases with the number of diffusion-weighted images that need to be acquired. Particularly in clinical settings, scan time is limited and only a sparse coverage of the vast q -space is possible. In this paper, we show how non-local self-similar information in the x - q space of diffusion MRI data can be harnessed for q -space upsampling. More specifically, we establish the relationships between signal measurements in x - q space using a patch matching mechanism that caters to unstructured data. We then encode these relationships in a graph and use it to regularize an inverse problem associated with recovering a high q -space resolution dataset from its low-resolution counterpart. Experimental results indicate that the high-resolution datasets reconstructed using the proposed method exhibit greater quality, both quantitatively and qualitatively, than those obtained using conventional methods, such as interpolation using spherical radial basis functions (SRBFs).

Nedsat koenzym Q10 kan være årsag til statinassocieret myopati

DEFF Research Database (Denmark)

Nielsen, Mette Lundgren; Pareek, Manan; Henriksen, Jan Erik

2011-01-01

Statin treatment can cause muscular side effects. It has been suggested that the mechanism is reduced synthesis of coenzyme Q10 (coQ10) and a subsequent dysfunction of the respiratory chain. A literature review resulted in insufficient evidence supporting this theory. It is uncertain whether...... intramuscular levels of coQ10 and mitochondrial function are affected by statin therapy and whether the symptoms of myopathy can be alleviated with coQ10 supplementation. Nevertheless, due to a favourable safety profile, coQ10 can be tested in patients whose muscular symptoms cannot be managed otherwise....

High mechanical Q-factor measurements on silicon bulk material

Energy Technology Data Exchange (ETDEWEB)

Schwarz, Christian; Nawrodt, Ronny; Heinert, Daniel; Schroeter, Anja; Neubert, Ralf; Thuerk, Matthias; Vodel, Wolfgang; Seidel, Paul [Institut fuer Festkoerperphysik, Helmholtzweg 5, D-07743 Jena (Germany); Tuennermann, Andreas [Institut fuer Angewandte Physik, Albert-Einstein-Strasse 15, D-07745 Jena (Germany)

2008-07-01

The direct observation of gravitational waves is one of the biggest challenges in science. Current detectors are limited by different kinds of noise. One of the fundamental noise sources is thermal noise arising from the optical components. One of the most promising attempts to reduce the thermal noise contribution in future detectors will be the use of high Q-factor materials at cryogenic temperatures. Silicon seems to be the most interesting material due to its excellent optical and thermal properties. We present high Q-factor measurements on bulk samples of high purity silicon in a temperature range from 5 to 300 K. The sample dimensions vary between 76.2 mm x 12..75 mm. The Q-factor exceeds 4.10{sup 8} at 6 K. The influence of the crystal orientation, doping and the sample preparation on the Q-factor is discussed.

q-deformed Poincare algebra

International Nuclear Information System (INIS)

Ogievetsky, O.; Schmidke, W.B.; Wess, J.; Muenchen Univ.; Zumino, B.; Lawrence Berkeley Lab., CA

1992-01-01

The q-differential calculus for the q-Minkowski space is developed. The algebra of the q-derivatives with the q-Lorentz generators is found giving the q-deformation of the Poincare algebra. The reality structure of the q-Poincare algebra is given. The reality structure of the q-differentials is also found. The real Laplaacian is constructed. Finally the comultiplication, counit and antipode for the q-Poincare algebra are obtained making it a Hopf algebra. (orig.)

Children with Chromosome 22q11.2 Deletion Syndrome Exhibit Impaired Spatial Working Memory

Science.gov (United States)

Wong, Ling M.; Riggins, Tracy; Harvey, Danielle; Cabaral, Margarita; Simon, Tony J.

2014-01-01

Individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS) have been shown to have impairments in processing spatiotemporal information. The authors examined whether children with 22q11.2DS exhibit impairments in spatial working memory performance due to these weaknesses, even when controlling for maintenance of attention. Children with…

Fermi-Dirac correlation and Q-νKν(Q) distribution

International Nuclear Information System (INIS)

Dai Qirun; Li Jimei; Ma Zhanqing; Zhao Shusong

1996-01-01

The Fermi-Dirac correlation of identical protons is studied. Based on the non-perturbative theory of quantum fields, we put forward a kind of source distribution--the Q -ν K ν (Q) distribution. The Fermi-Dirac correlation of (p +- -p +- )-pairs is calculated from this distribution. The fitted curves agree with experimental data. The Q -ν K ν (Q) distribution has more advantages than the Gauss Source distribution. The radii of the source emitting hadrons and the anomalous dimensions of the Fermi field are calculated from the Fermi-Dirac correlation of identical protons

C anti c q anti q states

Energy Technology Data Exchange (ETDEWEB)

Chao, K T [Oxford Univ. (UK). Dept. of Theoretical Physics; Science Research Council, Chilton (UK). Rutherford and Appleton Labs.)

1980-07-01

Taking account of the colour magnetic and electric forces, we discuss the spectroscopy of various types of c anti c q anti q states. Their decay, hadronic production, production in e/sup +/e/sup -/ annihilation as well as photoproduction are also studied.

Mobile Robot Navigation Based on Q-Learning Technique

Directory of Open Access Journals (Sweden)

Lazhar Khriji

2011-03-01

Full Text Available This paper shows how Q-learning approach can be used in a successful way to deal with the problem of mobile robot navigation. In real situations where a large number of obstacles are involved, normal Q-learning approach would encounter two major problems due to excessively large state space. First, learning the Q-values in tabular form may be infeasible because of the excessive amount of memory needed to store the table. Second, rewards in the state space may be so sparse that with random exploration they will only be discovered extremely slowly. In this paper, we propose a navigation approach for mobile robot, in which the prior knowledge is used within Q-learning. We address the issue of individual behavior design using fuzzy logic. The strategy of behaviors based navigation reduces the complexity of the navigation problem by dividing them in small actions easier for design and implementation. The Q-Learning algorithm is applied to coordinate between these behaviors, which make a great reduction in learning convergence times. Simulation and experimental results confirm the convergence to the desired results in terms of saved time and computational resources.

Tsallis’ quantum q-fields

Science.gov (United States)

Plastino, A.; Rocca, M. C.

2018-05-01

We generalize several well known quantum equations to a Tsallis’ q-scenario, and provide a quantum version of some classical fields associated with them in the recent literature. We refer to the q-Schródinger, q-Klein-Gordon, q-Dirac, and q-Proca equations advanced in, respectively, Phys. Rev. Lett. 106, 140601 (2011), EPL 118, 61004 (2017) and references therein. We also introduce here equations corresponding to q-Yang-Mills fields, both in the Abelian and non-Abelian instances. We show how to define the q-quantum field theories corresponding to the above equations, introduce the pertinent actions, and obtain equations of motion via the minimum action principle. These q-fields are meaningful at very high energies (TeV scale) for q = 1.15, high energies (GeV scale) for q = 1.001, and low energies (MeV scale) for q = 1.000001 [Nucl. Phys. A 955 (2016) 16 and references therein]. (See the ALICE experiment at the LHC). Surprisingly enough, these q-fields are simultaneously q-exponential functions of the usual linear fields’ logarithms.

Giant Cell Arteritis of the Female Genital Tract With Occult Temporal Arteritis and Marginal Zone Lymphoma Harboring Novel 20q Deletion: A Case Report and Literature Review.

Science.gov (United States)

Pradhan, Dinesh; Amin, Rajnikant M; Jones, Miroslawa W; Surti, Urvashi; Parwani, Anil V

2016-02-01

Giant cell arteritis (GCA) is an immunologically mediated vasculitis of large and medium-sized vessels, typically affecting the cranial arteries and usually occurring in the elderly. GCA of the female genital tract is extremely rare with only 31 cases reported in the English literature. An 83-year-old white female with postmenopausal vaginal bleeding revealed an endometrial polyp on pelvic ultrasonography following which polypectomy and subsequently hysterectomy with bilateral salpingo-oophorectomy was done. Microscopy revealed a well-differentiated endometrioid adenocarcinoma. Interestingly, classic GCA involving numerous small to medium-sized arteries of the cervix, myometrium, bilateral fallopian tubes, and ovaries was also identified. Hematologic evaluation revealed marginal zone lymphoma with an exceptionally rare 20q deletion. Bilateral temporal artery biopsy was done subsequently, which exhibited GCA on microscopy. Corticosteroid was started that improved her polymyalgia rheumatica symptoms. The patient is on follow-up for 3 years and is doing well. To our knowledge, this is the first case of GCA of the female genital tract associated with a lymphoma and the second case of marginal zone lymphoma with the novel 20q deletion. © The Author(s) 2015.

Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation

DEFF Research Database (Denmark)

Durkin, M E; Loechel, F; Mattei, M G

1997-01-01

, heart, lung, skeletal muscle, kidney, and pancreas. The human laminin alpha5-chain gene (LAMA5) was assigned to chromosome 20q13.2-q13.3 by in situ hybridization, and the mouse gene (Lama5) was mapped by linkage analysis to a syntonic region of distal chromosome 2, close to the locus for the ragged (Ra...

Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.

Science.gov (United States)

Mascelli, Samantha; Severino, Mariasavina; Raso, Alessandro; Nozza, Paolo; Tassano, Elisa; Morana, Giovanni; De Marco, Patrizia; Merello, Elisa; Milanaccio, Claudia; Pavanello, Marco; Rossi, Andrea; Cama, Armando; Garrè, Maria Luisa; Capra, Valeria

2014-01-01

We report on a 9-years-old patient with mild intellectual disability, facial dimorphisms, bilateral semicircular canal dysplasia, periventricular nodular heterotopias, bilateral hippocampal malrotation and abnormal cerebellar foliation, who developed mild motor impairment and gait disorder due to a pilocytic astrocytoma of the spinal cord. Array-CGH analysis revealed two paternal inherited chromosomal events: a 484.3 Kb duplication on chromosome 15q26.3 and a 247 Kb deletion on 22q11.23. Further, a second de novo 1.5 Mb deletion on 22q11.21 occurred. Chromosome 22 at q11.2 and chromosome 15 at q24q26 are considered unstable regions subjected to copy number variations, i.e. structural alterations of genome, mediated by low copy repeat sequences or segmental duplications. The link between some structural CNVs, which compromise fundamental processes controlling DNA stability, and genomic disorders suggest a plausible scenario for cancer predisposition. Evaluation of the genes at the breakpoints cannot account simultaneously for the phenotype and tumour development in this patient. The two paternal inherited CNVs arguably are not pathogenic and do not contribute to the clinical manifestations. Similarly, although the de novo large deletion at 22q11.21 overlaps with the Di George (DGS) critical region and results in haploinsufficiency of genes compromising critical processes for DNA stability, this case lacks several hallmarks of DGS.

Triply heavy tetraquark states with the QQ anti Q anti q configuration

Energy Technology Data Exchange (ETDEWEB)

Chen, Kan; Liu, Xiang [Lanzhou University, School of Physical Science and Technology, Lanzhou (China); Lanzhou University and Institute of Modern Physics of CAS, Research Center for Hadron and CSR Physics, Lanzhou (China); Liu, Yan-Rui; Wu, Jing [Shandong University, School of Physics and Key Laboratory of Particle Physics and Particle Irradiation (MOE), Jinan (China); Zhu, Shi-Lin [Peking University, School of Physics and State Key Laboratory of Nuclear Physics and Technology, Beijing (China); Collaborative Innovation Center of Quantum Matter, Beijing (China); Peking University, Center of High Energy Physics, Beijing (China)

2017-01-15

In the framework of the color-magnetic interaction, we systematically investigate the mass splittings of the QQ anti Q anti q tetraquark states and estimate their rough masses in this work. These systems include the explicitly exotic states cc anti b anti q and bb anti c anti q and the hidden exotic states cc anti c anti q, cb anti b anti q, bc anti c anti q, and bb anti b anti q. If a state around the estimated mass region can be observed, its nature as a genuine tetraquark is favored. The strong decay patterns shown here will be helpful to the experimental search for these exotic states. (orig.)

Q QIAO

Indian Academy of Sciences (India)

Home; Journals; Bulletin of Materials Science. Q QIAO. Articles written in Bulletin of Materials Science. Volume 39 Issue 2 April 2016 pp 519-523. Effect of temperature on structure and corrosion resistance for electroless NiWP coating · M Q YU Q QIAO F YOU C L LI Y ZHAO Z Z XIAO H L LUO Z F XU KAZUHIRO MATSUGI ...

Symmetric q-Bessel functions

Directory of Open Access Journals (Sweden)

Giuseppe Dattoli

1996-05-01

Full Text Available q analog of bessel functions, symmetric under the interchange of q and q^ −1 are introduced. The definition is based on the generating function realized as product of symmetric q-exponential functions with appropriate arguments. Symmetric q-Bessel function are shown to satisfy various identities as well as second-order q-differential equations, which in the limit q → 1 reproduce those obeyed by the usual cylindrical Bessel functions. A brief discussion on the possible algebraic setting for symmetric q-Bessel functions is also provided.

q-deformed Weinberg-Salam model and q-deformed Maxwell equations

International Nuclear Information System (INIS)

Alavi, S.A.; Sarbishaei, M.; Mokhtari, A.

2000-01-01

We study the q-deformation of the gauge part of the Weinberg-Salam model and show that the q-deformed theory involves new interactions. We then obtain q-deformed Maxwell equations from which magnetic monopoles appear naturally. (author)

q-Derivatives, quantization methods and q-algebras

International Nuclear Information System (INIS)

Twarock, Reidun

1998-01-01

Using the example of Borel quantization on S 1 , we discuss the relation between quantization methods and q-algebras. In particular, it is shown that a q-deformation of the Witt algebra with generators labeled by Z is realized by q-difference operators. This leads to a discrete quantum mechanics. Because of Z, the discretization is equidistant. As an approach to a non-equidistant discretization of quantum mechanics one can change the Witt algebra using not the number field Z as labels but a quadratic extension of Z characterized by an irrational number τ. This extension is denoted as quasi-crystal Lie algebra, because this is a relation to one-dimensional quasicrystals. The q-deformation of this quasicrystal Lie algebra is discussed. It is pointed out that quasicrystal Lie algebras can be considered also as a 'deformed' Witt algebra with a 'deformation' of the labeling number field. Their application to the theory is discussed

Serum Levels of Coenzyme Q10 in Patients with Multiple System Atrophy.

Directory of Open Access Journals (Sweden)

Takashi Kasai

Full Text Available The COQ2 gene encodes an essential enzyme for biogenesis, coenzyme Q10 (CoQ10. Recessive mutations in this gene have recently been identified in families with multiple system atrophy (MSA. Moreover, specific heterozygous variants in the COQ2 gene have also been reported to confer susceptibility to sporadic MSA in Japanese cohorts. These findings have suggested the potential usefulness of CoQ10 as a blood-based biomarker for diagnosing MSA. This study measured serum levels of CoQ10 in 18 patients with MSA, 20 patients with Parkinson's disease and 18 control participants. Although differences in total CoQ10 (i.e., total levels of serum CoQ10 and its reduced form among the three groups were not significant, total CoQ10 level corrected by serum cholesterol was significantly lower in the MSA group than in the Control group. Our findings suggest that serum CoQ10 can be used as a biomarker in the diagnosis of MSA and to provide supportive evidence for the hypothesis that decreased levels of CoQ10 in brain tissue lead to an increased risk of MSA.

Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).

Science.gov (United States)

Shim, Sung Han; Shim, Jae Sun; Min, Kyunghoon; Lee, Hee Song; Park, Ji Eun; Park, Sang Hee; Hwang, Euna; Kim, Minyoung

2014-01-15

Chromosome 7q36 microdeletion syndrome is a rare genomic disorder characterized by underdevelopment of the brain, microcephaly, anomalies of the sex organs, and language problems. Developmental delay, intellectual disability, autistic spectrum disorders, BDMR syndrome, and unusual facial morphology are the key features of the chromosome 2q37 microdeletion syndrome. A genetic screening for two brothers with global developmental delay using high-resolution chromosomal analysis and subtelomeric multiplex ligation-dependent probe amplification revealed subtelomeric rearrangements on the same sites of 2q37.2 and 7q35, with reversed deletion and duplication. Both of them showed dysmorphic facial features, severe disability of physical and intellectual development, and abnormal genitalia with differential abnormalities in their phenotypes. The family did not have abnormal genetic phenotypes. According to the genetic analysis of their parents, adjacent-1 segregation from their mother's was suggested as a mechanism of their gene mutation. By comparing the phenotypes of our patients with previous reports on similar patients, we tried to obtain the information of related genes and their chromosomal locations. © 2013.

Some approximation properties of ( p , q $(p,q$ -Bernstein operators

Directory of Open Access Journals (Sweden)

Shin Min Kang

2016-06-01

Full Text Available Abstract This paper is concerned with the ( p , q $(p,q$ -analog of Bernstein operators. It is proved that, when the function is convex, the ( p , q $(p,q$ -Bernstein operators are monotonic decreasing, as in the classical case. Also, some numerical examples based on Maple algorithms that verify these properties are considered. A global approximation theorem by means of the Ditzian-Totik modulus of smoothness and a Voronovskaja type theorem are proved.

PIK3CA, HRAS and PTEN in human papillomavirus positive oropharyngeal squamous cell carcinoma

International Nuclear Information System (INIS)

Chiosea, Simion I; Nikiforova, Marina N; Grandis, Jennifer R; Lui, Vivian W Y; Diergaarde, Brenda; Maxwell, Jessica H; Ferris, Robert L; Kim, Seungwon W; Luvison, Alyssa; Miller, Megan

2013-01-01

Recent genomic evidence suggests frequent phosphatidylinositide 3-kinase (PI3K) pathway activation in human papillomavirus (HPV) positive oropharyngeal squamous cell carcinoma. Mutations/amplification of the gene encoding p110α catalytic subunit of phosphoinositide 3-kinase (PIK3CA), loss of phosphatase and tensin homolog (PTEN) and HRAS mutations are known to activate PI3K pathway. PIK3CA mutations were identified by Sanger sequencing in 23 of 75 (31%) HPV-positive oropharyngeal carcinomas, including exon 9 (p.E545K [n = 10] and p.E542K [n = 5]) or exon 20 (p.H1047Y, n = 2) mutations. Five rare and one novel (p.R537Q) PIK3CA mutations were identified. HRAS mutation (p.Q61L) was detected in 1 of 62 tested cases. PIK3CA amplification by fluorescence in situ hybridization (FISH) was identified in 4 cases (4/21, 20%), while PTEN loss was seen in 7 (7/21, 33%) cases (chromosome 10 monosomy [n = 4], homozygous deletion [n = 3]). Overall, genetic alterations that likely lead to PI3K pathway activation were identified in 34 of 75 cases (45%) and did not correlate with disease specific survival. These findings offer a molecular rationale for therapeutic targeting of PI3K pathway in patients with HPV-positive oropharyngeal carcinoma

On alternative q-Weibull and q-extreme value distributions: Properties and applications

Science.gov (United States)

Zhang, Fode; Ng, Hon Keung Tony; Shi, Yimin

2018-01-01

Tsallis statistics and Tsallis distributions have been attracting a significant amount of research work in recent years. Importantly, the Tsallis statistics, q-distributions have been applied in different disciplines. Yet, a relationship between some existing q-Weibull distributions and q-extreme value distributions that is parallel to the well-established relationship between the conventional Weibull and extreme value distributions through a logarithmic transformation has not be established. In this paper, we proposed an alternative q-Weibull distribution that leads to a q-extreme value distribution via the q-logarithm transformation. Some important properties of the proposed q-Weibull and q-extreme value distributions are studied. Maximum likelihood and least squares estimation methods are used to estimate the parameters of q-Weibull distribution and their performances are investigated through a Monte Carlo simulation study. The methodologies and the usefulness of the proposed distributions are illustrated by fitting the 2014 traffic fatalities data from The National Highway Traffic Safety Administration.

Chromosomal sensitivity to X-rays in lymphocytes from patients with Turner syndrome

Energy Technology Data Exchange (ETDEWEB)

Heras, J G; Coco, R

1986-03-01

Lymphocytes from patients with Turner syndrome were irradiated with X-rays to determine the chromosomal aberration frequency in first-division metaphases. Five patients with 45,X karyotype; three 45,X/46,Xi(X)q mosaics; one 45,X/47,XXX mosaic and 9 female controls were studied. Patients with a 45,X karyotype exhibited a radioinduced chromosomal aberration frequency similar to controls. In the mosaics, 45,X cells has a mean frequency of 38.75 +- 2.16; 46,Xi(X)q cells a mean of 38 +- 2.16 and the control group a rate of 36.25 +- 4.32. No differences were observed between 45,X and 46,Xi(X)q cells, 45,X and normal cells or 46,Xi(X)q and normal cells. Apparently neither the X monosomy nor the Xq isochromosome influences the in vitro X-ray-induced chromosomal damage in Turner syndrome lymphocytes. (Auth.). 29 references, 4 tables.

Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.

Directory of Open Access Journals (Sweden)

Catarina M Quinzii

Full Text Available Coenzyme Q(10 (CoQ(10 is a potent lipophilic antioxidant in cell membranes and a carrier of electrons in the mitochondrial respiratory chain. We previously characterized the effects of varying severities of CoQ(10 deficiency on ROS production and mitochondrial bioenergetics in cells harboring genetic defects of CoQ(10 biosynthesis. We observed a unimodal distribution of ROS production with CoQ(10 deficiency: cells with <20% of CoQ(10 and 50-70% of CoQ(10 did not generate excess ROS while cells with 30-45% of CoQ(10 showed increased ROS production and lipid peroxidation. Because our previous studies were limited to a small number of mutant cell lines with heterogeneous molecular defects, here, we treated 5 control and 2 mildly CoQ(10 deficient fibroblasts with varying doses of 4-nitrobenzoate (4-NB, an analog of 4-hydroxybenzoate (4-HB and inhibitor of 4-para-hydroxybenzoate:polyprenyl transferase (COQ2 to induce a range of CoQ(10 deficiencies. Our results support the concept that the degree of CoQ(10 deficiency in cells dictates the extent of ATP synthesis defects and ROS production and that 40-50% residual CoQ(10 produces maximal oxidative stress and cell death.

Study of structural and optical properties of ZnAlQ5 (zinc aluminum quinolate) organic phosphor for OLED applications

Science.gov (United States)

Nagpure, I. M.; Painuly, Deepshikha; Rabanal, Maria Eugenia

2016-05-01

The various composition of ZnAlQ5 such as Zn1.5A10.5Q5, Zn1Al1Q5, Zn0.5Al1.5Q5 organic phosphors were prepared via simple cost effective co-precipitation method. The FTIR, SEM, photoluminescence analysis of the prepared phosphors were reported. ZnQ2 and AlQ3 were also prepared by similar method and their properties were compared with different composition of ZnAlQ5. The structural elucidation in the form of stretching frequencies of chemical bonds of the prepared phosphor was carried out using Fourier Transform Infrared Spectroscopy (FTIR). The stretching frequency analysis confirms the formation of prepared phosphor materials. The SEM analysis shows the surface morphological behavior of prepared phosphor materials. Greenish photoluminescence were observed at 505 to 510 nm for the different composition of ZnAlQ5,in which Zn1.5Al0.5Q5 shows maximum luminescence intensity at 505 nm. PL emission of ZnQ2 was observed at 515 nm, while for AlQ3 at 520 nm. The blue shift of 10 nm was observed in Zn1.5A10.5Q5 due to modification of energy level due to presence of Zn2+ and Al3+. The enhancement in PL intensity was observed in Zn1.5A10.5Q5 compared to the other composition due to transfer of energy between Zn2+ and quinolate complex. Optical properties of the prepared materials were evaluated for possible applications in organic light emitting devices (OLED).

Replication the association of 2q32.2-q32.3 and 14q32.11 with hepatocellular carcinoma.

Science.gov (United States)

Chen, Wei; Wang, Mingquan; Zhang, Zhen; Tang, Huayang; Zuo, Xianbo; Meng, Xiangling; Xiong, Maoming; Zhou, Fusheng; Liang, Bo; Dai, Fen; Fang, Jun; Gao, Jinping; Zhu, Jun; Zhu, Yong; Wan, Hong; Wang, Miaofeng; Chan, Shixin; Sun, Liangdan

2015-04-25

Hepatocellular carcinoma (HCC) is a malignant tumor. The morbidity and mortality of HCC tend to ascend and become a serious threat to the population health. Genetic studies of HCC have identified several susceptibility loci of HCC. In this study, we aim to replicate the association of these loci in our samples from Chinese population and further investigate the genetic interaction. We selected 16 SNPs within 1p36.22, 2q32.2-q32.3, 3p21.33, 8p12, 14q32.11 and 21q21.3 and genotyped in 507 HCC patients and 3014 controls by using Sequenom MassARRAY system. Association analyses were performed by using PLINK 1.07. We observed that the STAT4 (2q32.2-q32.3) at rs7574865 (P=1.17×10(-3), OR=0.79) and EFCAB11 (14q32.11) at rs8013403 (P=1.54×10(-3), OR=0.80) were significantly associated with HCC in this study. In 3p21.33, genetic variant rs6795737 within GLB1 was also observed with suggestive evidence (P=9.98×10(-3), OR=0.84). In the interaction analysis, the pair of associated SNPs (rs7574865 within STAT4, rs8013403 within EFCAB11) generated evidence for interaction (P=4.10×10(-3)). In summary, our work first reported the association of 14q32.11 (EFCAB11) with HCC in Chinese Han population and revealed the genetic interaction between STAT4 (2q32.2-q32.3) and EFCAB11 (14q32.11) in HCC. Copyright © 2015 Elsevier B.V. All rights reserved.

Gain reduction due to space charge at high counting rates in multiwire proportional chambers

International Nuclear Information System (INIS)

Smith, G.C.; Mathieson, E.

1986-10-01

Measurements with a small MWPC of gas gain reduction, due to ion space charge at high counting rates, have been compared with theoretical predictions. The quantity ln(q/q 0 )/(q/q 0 ), where (q/q 0 ) is the relative reduced avalanche charge, has been found to be closely proportional to count rate, as predicted. The constant of proportionality is in good agreement with calculations made with a modified version of the original, simplified theory

Breakdown of I-Love-Q Universality in Rapidly Rotating Relativistic Stars

Science.gov (United States)

Doneva, Daniela D.; Yazadjiev, Stoytcho S.; Stergioulas, Nikolaos; Kokkotas, Kostas D.

2014-01-01

It was shown recently that normalized relations between the moment of inertia (I), the quadrupole moment (Q), and the tidal deformability (Love number) exist and for slowly rotating neutron stars they are almost independent of the equation of state (EOS). We extend the computation of the I-Q relation to models rotating up to the mass-shedding limit and show that the universality of the relations is lost. With increasing rotation rate, the normalized I-Q relation departs significantly from its slow-rotation limit, deviating up to 40% for neutron stars and up to 75% for strange stars. The deviation is also EOS dependent and for a broad set of hadronic and strange matter EOSs the spread due to rotation is comparable to the spread due to the EOS, if one considers sequences with fixed rotational frequency. Still, for a restricted sample of modern realistic EOSs one can parameterize the deviations from universality as a function of rotation only. The previously proposed I-Love-Q relations should thus be used with care, because they lose their universality in astrophysical situations involving compact objects rotating faster than a few hundred Hz.

BREAKDOWN OF I-LOVE-Q UNIVERSALITY IN RAPIDLY ROTATING RELATIVISTIC STARS

International Nuclear Information System (INIS)

Doneva, Daniela D.; Yazadjiev, Stoytcho S.; Kokkotas, Kostas D.; Stergioulas, Nikolaos

2014-01-01

It was shown recently that normalized relations between the moment of inertia (I), the quadrupole moment (Q), and the tidal deformability (Love number) exist and for slowly rotating neutron stars they are almost independent of the equation of state (EOS). We extend the computation of the I-Q relation to models rotating up to the mass-shedding limit and show that the universality of the relations is lost. With increasing rotation rate, the normalized I-Q relation departs significantly from its slow-rotation limit, deviating up to 40% for neutron stars and up to 75% for strange stars. The deviation is also EOS dependent and for a broad set of hadronic and strange matter EOSs the spread due to rotation is comparable to the spread due to the EOS, if one considers sequences with fixed rotational frequency. Still, for a restricted sample of modern realistic EOSs one can parameterize the deviations from universality as a function of rotation only. The previously proposed I-Love-Q relations should thus be used with care, because they lose their universality in astrophysical situations involving compact objects rotating faster than a few hundred Hz

Qq(Q-bar)(q-bar)' states in chiral SU(3) quark model

International Nuclear Information System (INIS)

Zhang Haixia; Zhang Min; Zhang Zongye

2007-01-01

We study the masses of Qq(Q-bar)(q-bar)' states with J PC =0 ++ , 1 ++ , 1 +- and 2 ++ in the chiral SU(3) quark model, where Q is the heavy quark (c or b) and q(q') is the light quark (u,d or s). According to our numerical results, it is improbable to make the interpretation of [cn(c-bar)(n-bar)] 1 ++ and [cn(c-bar)(n-bar)] 2 ++ (n=u,d) states as X(3872) and Y(3940), respectively. However, it is interesting to find the tetraquarks in the bq(b-bar)(q-bar)' system. (authors)

Q Fever: An Old but Still a Poorly Understood Disease

Directory of Open Access Journals (Sweden)

Hamidreza Honarmand

2012-01-01

Full Text Available Q fever is a bacterial infection affecting mainly the lungs, liver, and heart. It is found around the world and is caused by the bacteria Coxiella burnetii. The bacteria affects sheep, goats, cattle, dogs, cats, birds, rodents, and ticks. Infected animals shed this bacteria in birth products, feces, milk, and urine. Humans usually get Q fever by breathing in contaminated droplets released by infected animals and drinking raw milk. People at highest risk for this infection are farmers, laboratory workers, sheep and dairy workers, and veterinarians. Chronic Q fever develops in people who have been infected for more than 6 months. It usually takes about 20 days after exposure to the bacteria for symptoms to occur. Most cases are mild, yet some severe cases have been reported. Symptoms of acute Q fever may include: chest pain with breathing, cough, fever, headache, jaundice, muscle pains, and shortness of breath. Symptoms of chronic Q fever may include chills, fatigue, night sweats, prolonged fever, and shortness of breath. Q fever is diagnosed with a blood antibody test. The main treatment for the disease is with antibiotics. For acute Q fever, doxycycline is recommended. For chronic Q fever, a combination of doxycycline and hydroxychloroquine is often used long term. Complications are cirrhosis, hepatitis, encephalitis, endocarditis, pericarditis, myocarditis, interstitial pulmonary fibrosis, meningitis, and pneumonia. People at risk should always: carefully dispose of animal products that may be infected, disinfect any contaminated areas, and thoroughly wash their hands. Pasteurizing milk can also help prevent Q fever.

Changes in environmental tobacco smoke (ETS) exposure over a 20-year period: cross-sectional and longitudinal analyses

Science.gov (United States)

Jefferis, Barbara J; Thomson, Andrew G; Lennon, Lucy T; Feyerabend, Colin; Doig, Mira; McMeekin, Laura; Wannamethee, S Goya; Cook, Derek G; Whincup, Peter H

2009-01-01

Aims To examine long-term changes in environmental tobacco smoke (ETS) exposure in British men between 1978 and 2000, using serum cotinine. Design Prospective cohort: British Regional Heart Study. Setting General practices in 24 towns in England, Wales and Scotland. Participants Non-smoking men: 2125 studied at baseline [questionnaire (Q1): 1978–80, aged 40–59 years], 3046 studied 20 years later (Q20: 1998–2000, aged 60–79 years) and 1208 studied at both times. Non-smokers were men reporting no current smoking with cotinine < 15 ng/ml at Q1 and/or Q20. Measurements Serum cotinine to assess ETS exposure. Findings In cross-sectional analysis, geometric mean cotinine level declined from 1.36 ng/ml [95% confidence interval (CI): 1.31, 1.42] at Q1 to 0.19 ng/ml (95% CI: 0.18, 0.19) at Q20. The prevalence of cotinine levels ≤ 0.7 ng/ml [associated with low coronary heart disease (CHD) risk] rose from 27.1% at Q1 to 83.3% at Q20. Manual social class and northern region of residence were associated with higher mean cotinine levels both at Q1 and Q20; older age was associated with lower cotinine level at Q20 only. Among 1208 persistent non-smokers, cotinine fell by 1.47 ng/ml (95% CI: 1.37, 1.57), 86% decline. Absolute falls in cotinine were greater in manual occupational groups, in the Midlands and Scotland compared to southern England, although percentage decline was very similar across groups. Conclusions A marked decline in ETS exposure occurred in Britain between 1978 and 2000, which is likely to have reduced ETS-related disease risks appreciably before the introduction of legislation banning smoking in public places. PMID:19207361

SVZ⊕1/q{sup 2}-expansion versus some QCD holographic models

Energy Technology Data Exchange (ETDEWEB)

Jugeau, F., E-mail: frederic.jugeau@if.ufrj.br [Instituto de Física, Universidade Federal do Rio de Janeiro, Caixa Postal 68528, RJ 21941-972, Rio de Janeiro (Brazil); Narison, S., E-mail: snarison@yahoo.fr [Laboratoire Particules et Univers de Montpellier, CNRS-IN2P3, Case 070, Place Eugène Bataillon, 34095 Montpellier (France); Ratsimbarison, H., E-mail: herysedra@yahoo.fr [Institute of High-Energy Physics of Madagascar (iHEP-MAD), University of Antananarivo (Madagascar)

2013-05-13

Considering the classical two-point correlators built from (axial-) vector, scalar q{sup ¯}q and gluonium currents, we confront results obtained using the SVZ⊕1/q{sup 2}-expansion to the ones from some QCD holographic models in the Euclidean region and with negative dilaton Φ{sub i}(z)=−|c{sub i}{sup 2}|z{sup 2}. We conclude that the presence of the 1/q{sup 2}-term in the SVZ-expansion due to a tachyonic gluon mass appears naturally in the Minimum Soft-Wall (MSW) and the Gauge/String Dual (GSD) models which can also reproduce semi-quantitatively some of the higher dimension condensate contributions appearing in the OPE. The Hard-Wall model shows a large departure from the SVZ⊕1/q{sup 2}-expansion in the vector, scalar and gluonium channels due to the absence of any power corrections. The equivalence of the MSW and GSD models is manifest in the vector channel through the relation of the dilaton parameter with the tachyonic gluon mass. For approximately reproducing the phenomenological values of the dimension d=4,6 condensates, the holographic models require a tachyonic gluon mass (α{sub s}/π)λ{sup 2}≈−(0.12–0.14) GeV{sup 2}, which is about twice the fitted phenomenological value from e{sup +}e{sup −} data. The relation of the inverse length parameter c{sub i} to the tachyonic gluon mass also shows that c{sub i} is channel dependent but not universal for a given holographic model. Using the MSW model and M{sub ρ}=0.78 GeV as input, we predict a scalar q{sup ¯}q mass M{sub S}≈(0.95–1.10) GeV and a scalar gluonium mass M{sub G}≈(1.1–1.3) GeV.

Extended q -Gaussian and q -exponential distributions from gamma random variables

Science.gov (United States)

Budini, Adrián A.

2015-05-01

The family of q -Gaussian and q -exponential probability densities fit the statistical behavior of diverse complex self-similar nonequilibrium systems. These distributions, independently of the underlying dynamics, can rigorously be obtained by maximizing Tsallis "nonextensive" entropy under appropriate constraints, as well as from superstatistical models. In this paper we provide an alternative and complementary scheme for deriving these objects. We show that q -Gaussian and q -exponential random variables can always be expressed as a function of two statistically independent gamma random variables with the same scale parameter. Their shape index determines the complexity q parameter. This result also allows us to define an extended family of asymmetric q -Gaussian and modified q -exponential densities, which reduce to the standard ones when the shape parameters are the same. Furthermore, we demonstrate that a simple change of variables always allows relating any of these distributions with a beta stochastic variable. The extended distributions are applied in the statistical description of different complex dynamics such as log-return signals in financial markets and motion of point defects in a fluid flow.

Update History of This Database - Q-TARO | LSDB Archive [Life Science Database Archive metadata

Lifescience Database Archive (English)

Full Text Available switchLanguage; BLAST Search Image Search Home About Archive Update History Data ...List Contact us Q-TARO Update History of This Database Date Update contents 2014/10/20 The URL of the portal...ption Download License Update History of This Database Site Policy | Contact Us Update History of This Database - Q-TARO | LSDB Archive ... ... site is changed. 2013/12/17 The URL of the portal site is changed. 2013/12/13 Q-TARO English archive site i...s opened. 2009/11/15 Q-TARO ( http://qtaro.abr.affrc.go.jp/ ) is opened. About This Database Database Descri

One-step cross-genogroup multiplex RT-qPCR with an internal control system for the detection of infectious pancreatic necrosis virus (IPNV).

Science.gov (United States)

Hoferer, Marc; Braun, Anne; Skrypski, Julia; Bock, Sabine; Thalheim, Sabine; Sting, Reinhard

2017-09-01

Infectious pancreatic necrosis virus (IPNV) causes great losses in fish hatcheries world-wide. The detection of IPNV can be challenging in certain circumstances, particularly due to low viral load and the genetic variability of this RNA virus. For the first time, this project created a quantitative triplex real-time reverse transcription PCR (RT-qPCR), including an endogenous control system, for specific, sensitive and rapid detection of IPNV in routine diagnostics. Multiple sequence alignment of 46 nucleotide sequences of the segment A genome obtained from the NCBI database allowed the design of two RT-qPCR systems covering the IPNV genogroup 1 and genogroups 2-5, respectively. The completed triplex RT-qPCR including a salmonid-specific endogenous control showed high specificity and an analytical sensitivity of 20-40 oligonucleotide copies. Testing of dilution series of virus-loaded cell culture suspensions proved equality of the triplex RT-qPCR with virus detection in cell culture and a higher sensitivity than conventional RT-PCR in field samples. In comparative studies of a total of 77 field samples tested, 51 showed identical positive and 19 identical negative results in cell culture and the triplex RT-qPCR. However, seven other samples yielded positive results in the triplex RT-qPCR, but negative results in cell culture. Copyright © 2017 Elsevier B.V. All rights reserved.

Hematological abnormalities and 22q11.2 deletion syndrome

Directory of Open Access Journals (Sweden)

Rafael Fabiano Machado Rosa

2011-01-01

Full Text Available The 22q11.2 deletion syndrome (22q11DS is a common genetic disease characterized by broad phenotypic variability. Despite the small number of studies describing hematological alterations in individuals with 22q11DS, it appears that these abnormalities are more frequent than previously imagined. Thus, the objective of our study was to report on a patient with 22q11DS presenting thrombocytopenia and large platelets and to review the literature. The patient, a 13-year-old boy, was originally evaluated due to craniofacial dysmorphia and speech delay. He also had a history of behavioral changes, neuropsychomotor delay and recurrent otitis/sinusitis. The identification of a 22q11.2 microdeletion by fluorescent in situ hybridization diagnosed the syndrome. Despite his hematological alterations, he only had a history of epistaxis and bruising of the upper and lower limbs. Assessments of the prothrombin time, thrombin time, partial thromboplastin time, bleeding time, fibrinogen levels and platelet aggregation (including the ristocetin induced platelet aggregation test were all normal. Hematological alterations observed in 22q11DS are directly related to the genetic disorder itself (especially in respect to deletion of the GPIb gene and secondary to some clinical findings, such as immunodeficiency. Macrothrombocytopenia is increasingly being considered a feature of the broad spectrum of 22q11DS and may potentially be a clinical marker for the syndrome.

Physiological Responses during Cycling With Oval Chainrings (Q-Ring) and Circular Chainrings.

Science.gov (United States)

Cordova, Alfredo; Latasa, Iban; Seco, Jesus; Villa, Gerardo; Rodriguez-Falces, Javier

2014-05-01

The aim of this study was to compare the physiological responses of cyclists using round (C-ring) or oval (Q-ring) chainrings during an incremental test until exhaustion. Following a randomized design, twelve male elite cyclists [age (mean ± SD): 21.1 ± 2.1 yr; VO2max: 78.1 ± 5.3 mL·kg(-1)min(-1)] performed two incremental maximal tests separated by 48 h (one with C-rings, the other with Q-rings). Starting at 100 W, the workload was increased by 25 W every 3 min until volitional exhaustion. Maximal heart rate, power output and oxygen consumption were compared. Blood lactate was monitored throughout the test. After the incremental test, 4 intermittent 20-s maximal sprints with a 60-s recovery period in between were performed. Maximal isometric voluntary contractions were performed at rest and immediately after each 20-s maximal sprint, and the force and EMG RMS amplitude were recorded from the vastus medialis and vastus lateralis muscles. For the incremental exercise test, no significant differences were found in the maximal power output (P=0.12), oxygen consumption (P=0.39), and heart rate (P=0.32) between Q-rings and C-rings. Throughout the incremental test, lactate levels were comparable when using both the C-rings and Q-rings (P=0.47). During the short sprints, power output was 2.5-6.5% greater for Q-rings than for C-rings (P=0.22). The decline in EMG RMS amplitude observed during the incremental tests was comparable for Q-rings and C-rings (0.42). These findings indicate that the oval chainring design, presented here as "Q-rings", did not significantly influence the physiological response to an incremental exercise test as compared to a conventional chainring. Key pointsDuring the incremental exercise test, no significant differences were found in power output, oxygen consumption or heart rate between oval "Q-rings" and conventional chainrings.Over the course of the incremental test, blood lactate levels were comparable for the oval "Q-rings" and

The impact of additional cytogenetic abnormalities at diagnosis and during therapy with tyrosine kinase inhibitors in Chronic Myeloid Leukaemia.

Science.gov (United States)

Crisan, A M; Coriu, D; Arion, C; Colita, A; Jardan, C

2015-01-01

R = complete cytogenetic response, PCyR = partial cytogenetic response, mCyR = minor cytogenetic response, MMR = major molecular response, HSCT = hematopoietic stem cell transplant, HLA = human leukocyte antigens, CP = chronic phase, AP = accelerated phase, BP = blast phase, OS = overall survival, CBA = chromosome banding analysis, +8 = trisomy 8, i(17q) = isochromosome (17q), +Ph = second Philadelphia chromosome, -7 = monosomy 7, -17 = monosomy 17, +17 = trisomy 17, -21 = monosomy 21, +21 = trisomy 21, -Y = loss of Y chromosome, ELN = European LeukemiaNet, IMA600 = Imatinib 600 mg daily, IMA400 = Imatinib 400 mg daily, NILO600 = Nilotinib 600 mg daily, DASA100 = Dasatinib 100mg daily, DASA140 = Dasatinib 140 mg daily.

Physiological Responses during Cycling With Oval Chainrings (Q-Ring and Circular Chainrings

Directory of Open Access Journals (Sweden)

Alfredo Cordova

2014-06-01

Full Text Available The aim of this study was to compare the physiological responses of cyclists using round (C-ring or oval (Q-ring chainrings during an incremental test until exhaustion. Following a randomized design, fourteen male elite cyclists [age (mean ± SD: 21.1 ± 2.1 yr; VO2max: 78.5 ± 5.3 mL·kg-1min-1] performed two incremental maximal tests separated by 48 h (one with C-rings, the other with Q-rings. Starting at 100 W, the workload was increased by 25 W every 3 min until volitional exhaustion. Maximal heart rate, power output and oxygen consumption were compared. Blood lactate was monitored throughout the test. After the incremental test, 4 intermittent 20-s maximal sprints with a 60-s recovery period in between were performed. Maximal isometric voluntary contractions were performed at rest and immediately after each 20-s maximal sprint, and the force and EMG RMS amplitude were recorded from the vastus medialis and vastus lateralis muscles. For the incremental exercise test, no significant differences were found in the maximal power output (P=0.12, oxygen consumption (P=0.39, and heart rate (P=0.32 between Q-rings and C-rings. Throughout the incremental test, lactate levels were comparable when using both the C-rings and Q-rings (P=0.47. During the short sprints, power output was 2.5–6.5% greater for Q-rings than for C-rings (P=0.22. The decline in EMG RMS amplitude observed during the incremental tests was comparable for Q-rings and C-rings (0.42. These findings indicate that the oval chainring design, presented here as “Q-rings”, did not significantly influence the physiological response to an incremental exercise test as compared to a conventional chainring.

Clinical delineation of a patient with trisomy 12q23q24

NARCIS (Netherlands)

Bouman, Arjan; Schuitema, Anke; Pfundt, Rolph; van de Zande, Guillaume; Kleefstra, Tjitske

2013-01-01

Trisomies of 12q23q24 have been described rarely in literature. Only a few case-reports have been published so far almost exclusively reporting on neonates or young infants. We present a 16-year-old patient with a trisomy of 12q23.3q24.3. Full phenotypic evaluation at this age comprised: severe

Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukemias: a Nordic series of 24 cases and review of the literature

DEFF Research Database (Denmark)

Forestier, Erik; Gauffin, Fredrika; Andersen, Mette K

2008-01-01

Although dic(9;20)(p13.2;q11.2) is a characteristic abnormality in childhood B-cell precursor acute lymphoblastic leukemias (BCP ALL), little is known about its clinical impact or the type and frequency of additional aberrations it may occur together with. We here review the clinical and cytogene......Although dic(9;20)(p13.2;q11.2) is a characteristic abnormality in childhood B-cell precursor acute lymphoblastic leukemias (BCP ALL), little is known about its clinical impact or the type and frequency of additional aberrations it may occur together with. We here review the clinical...... a mediastinal mass at diagnosis. Risk group stratification was nonstandard risk in 79%. The event-free survival and overall survival at 5 years for the 24 Nordic cases was 0.62 and 0.82, respectively. Thus, although relapses are quite common, postrelapse treatment of many patients is successful....

Neuropeptide Y receptor genes on human chromosome 4q31-q32 map to conserved linkage groups on mouse chromosomes 3 and 8

Energy Technology Data Exchange (ETDEWEB)

Lutz, C.M.; Frankel, W.N. [Jackson Lab., Bar Harbor, ME (United States); Richards, J.E. [Univ. of Michigan Medical School, Ann Arbor, MI (United States)] [and others

1997-05-01

Npy1r and Npy2r, the genes encoding mouse type 1 and type 2 neuropeptide Y receptors, have been mapped by interspecific backcross analysis. Previous studies have localized the human genes encoding these receptors to chromosome 4q31-q32. We have now assigned Npy1r and Npy2r to conserved linkage groups on mouse Chr 8 and Chr 3, respectively, which correspond to the distal region of human chromosome 4q. Using yeast artificial chromosomes, we have estimated the distance between the human genes to be approximately 6 cM. Although ancient tandem duplication events may account for some closely spaced G-protein-coupled receptor genes, the large genetic distance between the human type 1 and type 2 neuropeptide Y receptor genes raises questions about whether this mechanism accounts for their proximity. 20 refs., 1 fig.

A q-Schroedinger algebra, its lowest weight representations and generalized q-deformed heat equations

International Nuclear Information System (INIS)

Dobrev, V.K.; Doebner, H.D.; Mrugalla, C.

1995-12-01

We give a q-deformation S-perpendicular q of the centrally extended Schroedinger algebra. We construct the lowest weight representations of S-perpendicular q , starting from the Verma modules over S-perpendicular q , finding their singular vectors and factoring the Verma submodules built on the singular vectors. We also give a vector-field realization of S-perpendicular q which provides polynomial realization of the lowest weight representations and an infinite hierarchy of q-difference equations which may be called generalized q-deformed heat equations. We also apply our methods to the on-shell q-Schroedinger algebra proposed by Floreanini and Vinet. (author). 12 refs

Weyl q-coefficients for uq(3) and Racah q -coefficients for suq(2)

International Nuclear Information System (INIS)

Asherova, R.M.; Smirnov, Yu.F.; Tolstoy, V.N.

1996-01-01

With the aid of the projection-operator technique, the general analytic expression for the elements of the matrix that relates the U and T bases of an arbitrary finite-dimensional irreducible representation of the uq(3) quantum algebra (Weyl q-coefficients) is obtained for the case where the deformation parameter q is not equal to a square root of unity. The procedure for resummation of q-factorial expressions is used to prove that, modulo phase factors, these Weyl q-coefficients coincide with Racah q-coefficients for the suq(2) quantum algebra. It is also shown that, on the basis of one general formula, the q-analogs of all known general analytic expressions for the 6j symbols (and Racah coefficients) of the Lie algebras of the angular momentum can be obtained by using this resummation procedure. The symmetry properties of these q coefficients are discussed. The result is formulated in the following way: the general formulas for the q-6j symbols (Racah q-coefficients) of the suq(2) quantum algebra are obtained from the general formulas for the conventional 6j symbols (Racah coefficients) of the su(2) Lie algebra by replacing directly all factorials with q-factorials, the symmetry properties of the q-6j symbols being completely coincident with the symmetry properties of the conventional 6j symbols

Trends and risk factors for human Q fever in Australia, 1991-2014.

Science.gov (United States)

Sloan-Gardner, T S; Massey, P D; Hutchinson, P; Knope, K; Fearnley, E

2017-03-01

Australian abattoir workers, farmers, veterinarians and people handling animal birthing products or slaughtering animals continue to be at high risk of Q fever despite an effective vaccine being available. National Notifiable Diseases Surveillance System data were analysed for the period 1991-2014, along with enhanced risk factor data from notified cases in the states of New South Wales and Queensland, to examine changes in the epidemiology of Q fever in Australia. The national Q fever notification rate reduced by 20% [incident rate ratio (IRR) 0·82] following the end of the National Q fever Management Program in 2006, and has increased since 2009 (IRR 1·01-1·34). Highest rates were in males aged 40-59 years (5·9/100 000) and 87% of Q fever cases occurred in New South Wales and Queensland. The age of Q fever cases and proportion of females increased over the study period. Based on the enhanced risk factor data, the most frequently listed occupation for Q fever cases involved contact with livestock, followed by 'no known risk' occupations. More complete and comparable enhanced risk factor data, at the State/Territory and national levels, would aid in further understanding of the epidemiology of Q fever.

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

DEFF Research Database (Denmark)

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

2012-01-01

with broad nasal tip, anteverted nares, long philtrum, and thin upper lip. In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism. Molecular karyotyping using array CGH analysis revealed a de novo 8.9 Mb deletion at 6q14.1-q14.......3 and a de novo 11.3 Mb deletion at 6q12.1-6q14.1, respectively. We provide a review of the clinical features of twelve other patients with 6q14 deletions detected by array CGH analysis. By assessing all reported data we could not identify a single common region of deletion. Possible candidate genes in 6q14...

Potential role of coenzyme Q10 in facilitating recovery from statin-induced rhabdomyolysis.

Science.gov (United States)

Wang, L W; Jabbour, A; Hayward, C S; Furlong, T J; Girgis, L; Macdonald, P S; Keogh, A M

2015-04-01

Rhabdomyolysis is a rare, but serious complication of statin therapy, and represents the most severe end of the spectrum of statin-induced myotoxicity. We report a case where coenzyme Q10 facilitated recovery from statin-induced rhabdomyolysis and acute renal failure, which had initially persisted despite statin cessation and haemodialysis. This observation is biologically plausible due to the recognised importance of coenzyme Q10 in mitochondrial bioenergetics within myocytes, and the fact that statins inhibit farnesyl pyrophosphate production, a biochemical step crucial for coenzyme Q10 synthesis. Coenzyme Q10 is generally well tolerated, and may potentially benefit patients with statin-induced rhabdomyolysis. © 2015 Royal Australasian College of Physicians.

Seroprevalence of Q fever in Goats in the Sudan

Directory of Open Access Journals (Sweden)

Diaeldin A Salih

Full Text Available Aim: The survey was carried out to detect anti- C. burnetii antibodies in goat's sera samples in eight States in the Sudan during September 2010 – July 2011. Materials and Methods: In a preliminary study, four hundred and sixty caprine sera samples collected from eight States in the Sudan were screened for anti- Coxiella burnetii (the causative agent of Q fever antibodies using a commercial indirect ELISA (iELISA kit. Results: The results showed an overall prevalence rate 24.22% of Q fever antibodies. The prevalence rate of antibodies ranged from 6.7% in Kassala to 40% in South Darfur. The prevalence rates were highest in South Darfur (40% and South Kordofan (34.7%, moderate in El Gazira (29.7%, Khartoum (29.1%, the Northern (24% and the River Nile (20.2% States. It was lowest in the White Nile (7.5% and Kassala (6.7% States. Conclusion: It could be concluded that Q fever is prevalent in goats in the Sudan. Therefore, further epizootiological investigations on Q fever in other farm animals and man at the country level is important to monitor and determine the magnitude of Q fever infection in order to estimate its economic impact on animal industry and its public health hazard in the Sudan. In addition, the impact of Q fever among shepherds should be studied. [Vet. World 2012; 5(7.000: 394-397

Fatigue following Acute Q-Fever: A Systematic Literature Review

Science.gov (United States)

Delsing, Corine E.; Bleijenberg, Gijs; Langendam, Miranda; Timen, Aura; Bleeker-Rovers, Chantal P.

2016-01-01

Background Long-term fatigue with detrimental effects on daily functioning often occurs following acute Q-fever. Following the 2007–2010 Q-fever outbreak in the Netherlands with over 4000 notified cases, the emphasis on long-term consequences of Q-fever increased. The aim of this study was to provide an overview of all relevant available literature, and to identify knowledge gaps regarding the definition, diagnosis, background, description, aetiology, prevention, therapy, and prognosis, of fatigue following acute Q-fever. Design A systematic review was conducted through searching Pubmed, Embase, and PsycInfo for relevant literature up to 26th May 2015. References of included articles were hand searched for additional documents, and included articles were quality assessed. Results Fifty-seven articles were included and four documents classified as grey literature. The quality of most studies was low. The studies suggest that although most patients recover from fatigue within 6–12 months after acute Q-fever, approximately 20% remain chronically fatigued. Several names are used indicating fatigue following acute Q-fever, of which Q-fever fatigue syndrome (QFS) is most customary. Although QFS is described to occur frequently in many countries, a uniform definition is lacking. The studies report major health and work-related consequences, and is frequently accompanied by nonspecific complaints. There is no consensus with regard to aetiology, prevention, treatment, and prognosis. Conclusions Long-term fatigue following acute Q-fever, generally referred to as QFS, has major health-related consequences. However, information on aetiology, prevention, treatment, and prognosis of QFS is underrepresented in the international literature. In order to facilitate comparison of findings, and as platform for future studies, a uniform definition and diagnostic work-up and uniform measurement tools for QFS are proposed. PMID:27223465

Relationship between the Pelvic Organ Prolapse Quantification system (POP-Q), the Pelvic Floor Impact Questionnaire (PFIQ-7), and the Pelvic Floor Distress Inventory (PFDI-20) before and after anterior vaginal wall prolapse surgery

DEFF Research Database (Denmark)

Rudnicki, Martin

2015-01-01

between the change in point Ba and scores following surgery. Statistical analyses used McNemar's and Wilcoxon signed-rank tests, Spearman's rank-order correlation, and multiple linear regression. RESULTS: Surgery significantly improved POP-Q, PFIQ-7, and PFDI-20 scores, including subscales. We observed...

$q$-norms are really norms

OpenAIRE

Belbachir, H.; Mirzavaziri, M.; Moslehian, M. S.

2005-01-01

Replacing the triangle inequality, in the definition of a norm, by $|x + y| ^{q}\\leq 2^{q-1}(|x| ^{q} + |y| ^{q}) $, we introduce the notion of a q-norm. We establish that every q-norm is a norm in the usual sense, and that the converse is true as well.

Regional Attenuation in Northern California: A Comparison of Five 1-D Q Methods

Energy Technology Data Exchange (ETDEWEB)

Ford, S R; Dreger, D S; Mayeda, K; Walter, W R; Malagnini, L; Phillips, W S

2007-08-03

The determination of regional attenuation Q{sup -1} can depend upon the analysis method employed. The discrepancies between methods are due to differing parameterizations (e.g., geometrical spreading rates), employed datasets (e.g., choice of path lengths and sources), and the methodologies themselves (e.g., measurement in the frequency or time domain). Here we apply five different attenuation methodologies to a Northern California dataset. The methods are: (1) coda normalization (CN), (2) two-station (TS), (3) reverse two-station (RTS), (4) source-pair/receiver-pair (SPRP), and (5) coda-source normalization (CS). The methods are used to measure Q of the regional phase, Lg (Q{sub Lg}), and its power-law dependence on frequency of the form Q{sub 0}f{sup {eta}} with controlled parameterization in the well-studied region of Northern California using a high-quality dataset from the Berkeley Digital Seismic Network. We investigate the difference in power-law Q calculated among the methods by focusing on the San Francisco Bay Area, where knowledge of attenuation is an important part of seismic hazard mitigation. This approximately homogeneous subset of our data lies in a small region along the Franciscan block. All methods return similar power-law parameters, though the range of the joint 95% confidence regions is large (Q{sub 0} = 85 {+-} 40; {eta} = 0.65 {+-} 0.35). The RTS and TS methods differ the most from the other methods and from each other. This may be due to the removal of the site term in the RTS method, which is shown to be significant in the San Francisco Bay Area. In order to completely understand the range of power-law Q in a region, it is advisable to use several methods to calculate the model. We also test the sensitivity of each method to changes in geometrical spreading, Lg frequency bandwidth, the distance range of data, and the Lg measurement window. For a given method, there are significant differences in the power-law parameters, Q{sub 0} and {eta

18q- and 18q+ mosaicism in a mentally retarded boy

NARCIS (Netherlands)

Ausems, M. G.; Bhola, S. L.; Post-Blok, C. A.; Hennekam, R. C.; de France, H. F.

1994-01-01

A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization

Q and you: The application of Q methodology in recreation research

Science.gov (United States)

Whitney. Ward

2010-01-01

Researchers have used various qualitative and quantitative methods to deal with subjectivity in studying people's recreation experiences. Q methodology has been the most effective approach for analyzing both qualitative and quantitative aspects of experience, including attitudes or perceptions. The method is composed of two main components--Q sorting and Q factor...

Simulation of DIII-D Flat q Discharges

International Nuclear Information System (INIS)

Kessel, C.E.; Garofalo, A.; Terpstra, T.

2004-01-01

The Advanced Tokamak plasma configuration has significant potential for the economical production of fusion power. Research on various tokamak experiments are pursuing these plasmas to establish high β, high bootstrap current fraction, 100% noninductive current, and good energy confinement, in a quasi-stationary state. One candidate is the flat q discharge produced in DIII-D, where the safety factor varies from 2.0 on axis, to slightly below 2.0 at the minimum, and then rises to about 3.5 at the 95% surface. This plasma is prototypical of those studied for power plants in the ARIES tokamak studies. The plasma is produced by ramping up the plasma current and ramping down the toroidal field throughout the discharge. The plasma current reaches 1.65 MA, and the toroidal field goes from 2.25 to 1.6 T. The q min remains high and at large radius, ρ ∼ 0.6. The plasma establishes an internal transport barrier in the ion channel, and transitions to H-mode. The free-boundary Tokamak Simulation Code (TSC) is being used to model the discharge and project the impact of changes in the plasma current, toroidal field, and injected power programming

Graphene Q-Switched Compact Yb:YAG Laser

Czech Academy of Sciences Publication Activity Database

Serres, J.M.; Jambunathan, Venkatesan; Mateos, X.; Loiko, P.; Lucianetti, Antonio; Mocek, Tomáš; Yumashev, K.; Petrov, V.; Griebner, U.; Aguilo, M.; Diaz, F.

2015-01-01

Roč. 7, č. 5 (2015), s. 1-8, č. článku 1503307. ISSN 1943-0655 R&D Projects: GA MŠk ED2.1.00/01.0027; GA MŠk EE2.3.20.0143; GA ČR GA14-01660S Grant - others:HILASE(XE) CZ.1.05/2.1.00/01.0027; OP VK 6(XE) CZ.1.07/2.3.00/20.0143 Institutional support: RVO:68378271 Keywords : graphene * saturable absorber * Q-switched laser Subject RIV: BH - Optics, Masers, Laser s OBOR OECD: Optics (including laser optics and quantum optics) Impact factor: 2.177, year: 2015

A case of de novo duplication of 15q24-q26.3

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Hye Ran Kim

2011-06-01

Full Text Available Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. Most reported cases of duplication of the long arm of chromosome 15 frequently have more than one segmental imbalance resulting from unbalanced translocations involving chromosome 15 and deletions in another chromosome, as well as other structural chromosomal abnormalities. We report a female newborn with a de novo duplication, 15q24- q26.3, showing intrauterine overgrowth, a narrow asymmetric face with down-slanting palpebral fissures, a large, prominent nose, and micrognathia, arachnodactyly, camptodactyly, congenital heart disease, hydronephrosis, and hydroureter. Chromosomal analysis showed a 46,XX,inv(9(p12q13,dup(15(q24q26.3. Array comparative genomic hybridization analysis revealed a gain of 42 clones on 15q24-q26.3. This case represents the only reported patient with a de novo 15q24-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component in Korea.

Q-switched all-solid-state lasers and application in processing of thin-film solar cell

Science.gov (United States)

Liu, Liangqing; Wang, Feng

2009-08-01

Societal pressure to renewable clean energy is increasing which is expected to be used as part of an overall strategy to address global warming and oil crisis. Photovoltaic energy conversion devices are on a rapidly accelerating growth path driven by government, of which the costs and prices lower continuously. The next generation thin-film devices are considered to be more efficiency and greatly reduced silicon consumption, resulting in dramatically lower per unit fabrication costs. A key aspect of these devices is patterning large panels to create a monolithic array of series-interconnected cells to form a low current, high voltage module. This patterning is accomplished in three critical scribing processes called P1, P2, and P3. All-solid-state Q-switched lasers are the technology of choice for these processes, due to their advantages of compact configuration, high peak-value power, high repeat rate, excellent beam quality and stability, delivering the desired combination of high throughput and narrow, clean scribes. The end pumped all-solid-state lasers could achieve 1064nm IR resources with pulse width of nanoseconds adopting acoustic-optics Q-switch, shorter than 20ns. The repeat rate is up to 100kHz and the beam quality is close to diffraction limit. Based on this, 532nm green lasers, 355nm UV lasers and 266nm DUV lasers could be carried out through nonlinear frequency conversion. Different wave length lasers are chose to process selective materials. For example, 8-15 W IR lasers are used to scribe the TCO film (P1); 1-5 W green lasers are suitable for scribing the active semiconductor layers (P2) and the back contact layers (P3). Our company, Wuhan Lingyun Photo-electronic System Co. Ltd, has developed 20W IR and 5W green end-pumped Q-switched all-solid-state lasers for thin-film solar industry. Operating in high repeat rates, the speed of processing is up to 2.0 m/s.

Human diploid fibroblasts have receptors for the globular domain of C1Q

International Nuclear Information System (INIS)

Bordin, S.; Page, R.C.

1986-01-01

The authors showed that mass cultures of fibroblasts grown from gingival explants in DB medium with 10% human serum are enriched in a phenotype that binds C1q with an affinity much higher than the rest of the population. Because of potential biologic importance of C1q receptors, the authors studied whether the interaction between C1q and this phenotype was mediated by the globular or collagenous domains of the molecule. Globular fragments were prepared by digesting C1q with collagenase, and collagenous fragments obtained after pepsin treatment. C1q binding on cells in suspension was determined by reaction with 125 I-C1q as reported. Competition experiments were performed under conditions in which intact 125 I-C1q binding saturated all available receptors. The results showed that collagenous fragments inhibited 20% of the 125 I-C1q binding to high affinity receptors, whereas inhibition by globular fragments was 70%. Unlabeled intact C1q and collagen type 1 were used as controls, and inhibited 92% and 17% of C1q binding, respectively. These studies show that C1q interacts with the fibroblast phenotype expressing high affinity receptors through its globular domain. The authors suggest that at sites of trauma, native C1 may bind to the surface of these cells via the globular domain of C1q, and that this unique phenotype may play an important role in tissue repair

Effect of Coenzyme-Q10 on Doxorubicin-Induced Nephrotoxicity in Rats

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Azza A. K. El-Sheikh

2012-01-01

Full Text Available Nephrotoxicity is one of the limiting factors for using doxorubicin (Dox as an anticancer chemotherapeutic. Here, we investigated possible protective effect of coenzyme-Q10 (CoQ10 on Dox-induced nephrotoxicity and the mechanisms involved. Two doses (10 and 100 mg/kg of CoQ10 were administered orally to rats for 8 days, in the presence or absence of nephrotoxicity induced by a single intraperitoneal injection of Dox (15 mg/kg at day 4 of the experiment. Our results showed that the low dose of CoQ10 succeeded in reversing Dox-induced nephrotoxicity to control levels (e.g., levels of blood urea nitrogen and serum creatinine, concentrations of renal reduced glutathione (GSH and malondialdehyde, catalase activity and caspase 3 expression, and renal histopathology. Alternatively, the high dose of CoQ10 showed no superior nephroprotection over the low dose, as there were no significant improvements in renal histopathology, catalase activity, or caspase 3 expression compared to the Dox-treated group. Interestingly, the high dose of CoQ10 alone significantly decreased renal GSH level as well as catalase activity and caused a mild induction of caspase 3 expression compared to control, probably due to a prooxidant effect at this dose of CoQ10. We conclude that CoQ10 protects from Dox-induced nephrotoxicity with a precaution to dosage adjustment.

NCBI nr-aa BLAST: CBRC-GACU-20-0015 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-GACU-20-0015 ref|NP_001035912.1| progestin and adipoQ receptor family member V...II [Takifugu rubripes] gb|ABD61705.1| progestin and adipoQ receptor family member VII [Takifugu rubripes] NP_001035912.1 0.0 87% ...

Q-instantons

NARCIS (Netherlands)

Bergshoeff, E. A.; Hartong, J.; Ploegh, A.; Sorokin, D.

We construct the half-supersymmetric instanton solutions that are electric-magnetically dual to the recently discussed half-supersymmetric Q7-branes. We call these instantons "Q-instantons". Whereas the D-instanton is most conveniently described using the RR axion chi and the dilaton phi, the

MS4A1 dysregulation in asbestos-related lung squamous cell carcinoma is due to CD20 stromal lymphocyte expression.

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Casey M Wright

Full Text Available Asbestos-related lung cancer accounts for 4-12% of lung cancers worldwide. We have previously identified ADAM28 as a putative oncogene involved in asbestos-related lung adenocarcinoma (ARLC-AC. We hypothesised that similarly gene expression profiling of asbestos-related lung squamous cell carcinomas (ARLC-SCC may identify candidate oncogenes for ARLC-SCC. We undertook a microarray gene expression study in 56 subjects; 26 ARLC-SCC (defined as lung asbestos body (AB counts >20AB/gram wet weight (gww and 30 non-asbestos related lung squamous cell carcinoma (NARLC-SCC; no detectable lung asbestos bodies; 0AB/gww. Microarray and bioinformatics analysis identified six candidate genes differentially expressed between ARLC-SCC and NARLC-SCC based on statistical significance (p2-fold. Two genes MS4A1 and CARD18, were technically replicated by qRT-PCR and showed consistent directional changes. As we also found MS4A1 to be overexpressed in ARLC-ACs, we selected this gene for biological validation in independent test sets (one internal, and one external dataset (2 primary tumor sets. MS4A1 RNA expression dysregulation was validated in the external dataset but not in our internal dataset, likely due to the small sample size in the test set as immunohistochemical (IHC staining for MS4A1 (CD20 showed that protein expression localized predominantly to stromal lymphocytes rather than tumor cells in ARLC-SCC. We conclude that differential expression of MS4A1 in this comparative gene expression study of ARLC-SCC versus NARLC-SCC is a stromal signal of uncertain significance, and an example of the rationale for tumor cell enrichment in preparation for gene expression studies where the aim is to identify markers of particular tumor phenotypes. Finally, our study failed to identify any strong gene candidates whose expression serves as a marker of asbestos etiology. Future research is required to determine the role of stromal lymphocyte MS4A1 dysregulation in

Chemical failure modes of AlQ3-based OLEDs: AlQ3 hydrolysis.

Science.gov (United States)

Knox, John E; Halls, Mathew D; Hratchian, Hrant P; Schlegel, H Bernhard

2006-03-28

Tris(8-hydroxyquinoline)aluminum(III), AlQ3, is used in organic light-emitting diodes (OLEDs) as an electron-transport material and emitting layer. The reaction of AlQ3 with trace H2O has been implicated as a major failure pathway for AlQ3-based OLEDs. Hybrid density functional calculations have been carried out to characterize the hydrolysis of AlQ3. The thermochemical and atomistic details for this important reaction are reported for both the neutral and oxidized AlQ3/AlQ3+ systems. In support of experimental conclusions, the neutral hydrolysis reaction pathway is found to be a thermally activated process, having a classical barrier height of 24.2 kcal mol(-1). First-principles infrared and electronic absorption spectra are compared to further characterize AlQ3 and the hydrolysis pathway product, AlQ2OH. The activation energy for the cationic AlQ3 hydrolysis pathway is found to be 8.5 kcal mol(-1) lower than for the neutral reaction, which is significant since it suggests a role for charge imbalance in promoting chemical failure modes in OLED devices.

Various endocrine disorders in children with t(13;14(q10;q10 Robertsonian translocation

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Byung Ho Choi

2013-09-01

Full Text Available Purpose45,XY,t(13;14(q10;q10 karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14(q10;q10 karyotype carries reproductive risks such as miscarriage or infertility in female adults. However, reports on the phenotype of this karyotype in children are very rare. This study was done to observe various phenotypes of this karyotype in children.MethodsBetween January 2007 and December 2012, children diagnosed with 45,XY,t(13;14(q10;q10 or 45,XX,t(13;14(q10;q10 karyotype by chromosome analysis were analyzed retrospectively.ResultsEight children (5 boys and 3 girls were diagnosed with 45,XY,t(13;14(q10;q10 or 45,XX,t(13;14(q10;q10 karyotype. They ranged in age from 5 years and 6 months to 12 years and 4 months. The phenotypes of the study patients consisted of 1 hypogonadotrophic hypogonadism, 1 precocious puberty, 3 early puberty, 2 growth hormone deficiency (GHD (partial and 1 idiopathic short stature. As shown here t(13;14(q10;q10 Robertsonian translocation shows a wide range of phenotypes.ConclusionIt can be said that t(13;14(q10;q10 Robertsonian translocation shows various phenotypes from GHD to precocious puberty in children. Further large-scale studies are necessary.

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

Directory of Open Access Journals (Sweden)

Zharkikh Andrey A

2006-09-01

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

Charged Particle Production in High Q2 Deep-Inelastic Scattering at HERA

CERN Document Server

Aaron, F.D.; Alexa, C.; Andreev, V.; Antunovic, B.; Aplin, S.; Asmone, A.; Astvatsatourov, A.; Backovic, S.; Baghdasaryan, A.; Baranov, P.; Barrelet, E.; Bartel, W.; Baudrand, S.; Beckingham, M.; Begzsuren, K.; Behnke, O.; Behrendt, O.; Belousov, A.; Berger, N.; Bizot, J.C.; Boenig, M.-O.; Boudry, V.; Bozovic-Jelisavcic, I.; Bracinik, J.; Brandt, G.; Brinkmann, M.; Brisson, V.; Bruncko, D.; Busser, F.W.; Bunyatyan, A.; Buschhorn, G.; Bystritskaya, L.; Campbell, A.J.; Cantun Avila, K.B.; Cassol-Brunner, F.; Cerny, K.; Cerny, V.; Chekelian, V.; Cholewa, A.; Contreras, J.G.; Coughlan, J.A.; Cozzika, G.; Cvach, J.; Dainton, J.B.; Daum, K.; Deak, M.; de Boer, Y.; Delcourt, B.; Del Degan, M.; Delvax, J.; De Roeck, A.; De Wolf, E.A.; Diaconu, C.; Dodonov, V.; Dubak, A.; Eckerlin, Guenter; Efremenko, V.; Egli, S.; Eichler, R.; Eisele, F.; Eliseev, A.; Elsen, E.; Essenov, S.; Falkiewicz, A.; Faulkner, P.J.W.; Favart, L.; Fedotov, A.; Felst, R.; Feltesse, J.; Ferencei, J.; Finke, L.; Fleischer, M.; Fomenko, A.; Franke, G.; Frisson, T.; Gabathuler, E.; Gayler, J.; Ghazaryan, Samvel; Ginzburgskaya, S.; Glazov, A.; Glushkov, I.; Goerlich, L.; Goettlich, M.; Gogitidze, N.; Gorbounov, S.; Gouzevitch, M.; Grab, C.; Greenshaw, T.; Grell, B.R.; Grindhammer, G.; Habib, S.; Haidt, D.; Hansson, M.; Heinzelmann, G.; Helebrant, C.; Henderson, R.C.W.; Henschel, H.; Herrera, G.; Hildebrandt, M.; Hiller, K.H.; Hoffmann, D.; Horisberger, R.; Hovhannisyan, A.; Hreus, T.; Jacquet, M.; Janssen, M.E.; Janssen, X.; Jemanov, V.; Jonsson, L.; Johnson, D.P.; Jung, Andreas Werner; Jung, H.; Kapichine, M.; Katzy, J.; Kenyon, I.R.; Kiesling, Christian M.; Klein, M.; Kleinwort, C.; Klimkovich, T.; Kluge, T.; Knutsson, A.; Korbel, V.; Kostka, P.; Kraemer, M.; Krastev, K.; Kretzschmar, J.; Kropivnitskaya, A.; Kruger, K.; Landon, M.P.J.; Lange, W.; Lastovicka-Medin, G.; Laycock, P.; Lebedev, A.; Leibenguth, G.; Lendermann, V.; Levonian, S.; Li, G.; Lindfeld, L.; Lipka, K.; Liptaj, A.; List, B.; List, J.; Loktionova, N.; Lopez-Fernandez, R.; Lubimov, V.; Lucaci-Timoce, A.-I.; Lytkin, L.; Makankine, A.; Malinovski, E.; Marage, P.; Marti, Ll.; Martisikova, M.; Martyn, H.-U.; Maxfield, S.J.; Mehta, A.; Meier, K.; Meyer, A.B.; Meyer, H.; Meyer, J.; Michels, V.; Mikocki, S.; Milcewicz-Mika, I.; Mohamed, A.; Moreau, F.; Morozov, A.; Morris, J.V.; Mozer, Matthias Ulrich; Muller, K.; Murin, P.; Nankov, K.; Naroska, B.; Naumann, Th.; Newman, Paul R.; Niebuhr, C.; Nikiforov, A.; Nowak, G.; Nowak, K.; Nozicka, M.; Oganezov, R.; Olivier, B.; Olsson, J.E.; Osman, S.; Ozerov, D.; Palichik, V.; Panagoulias, I.; Pandurovic, M.; Papadopoulou, Th.; Pascaud, C.; Patel, G.D.; Peng, H.; Perez, E.; Perez-Astudillo, D.; Perieanu, A.; Petrukhin, A.; Picuric, I.; Piec, S.; Pitzl, D.; Placakyte, R.; Polifka, R.; Povh, B.; Preda, T.; Prideaux, P.; Radescu, V.; Rahmat, A.J.; Raicevic, N.; Ravdandorj, T.; Reimer, P.; Risler, C.; Rizvi, E.; Robmann, P.; Roland, B.; Roosen, R.; Rostovtsev, A.; Rurikova, Z.; Rusakov, S.; Salek, D.; Salvaire, F.; Sankey, D.P.C.; Sauter, M.; Sauvan, E.; Schmidt, S.; Schmitt, S.; Schmitz, C.; Schoeffel, L.; Schoning, A.; Schultz-Coulon, H.-C.; Sefkow, F.; Shaw-West, R.N.; Sheviakov, I.; Shtarkov, L.N.; Sloan, T.; Smiljanic, Ivan; Smirnov, P.; Soloviev, Y.; South, D.; Spaskov, V.; Specka, Arnd E.; Staykova, Z.; Steder, M.; Stella, B.; Stiewe, J.; Straumann, U.; Sunar, D.; Sykora, T.; Tchoulakov, V.; Thompson, G.; Thompson, P.D.; Toll, T.; Tomasz, F.; Tran, T.H.; Traynor, D.; Trinh, T.N.; Truol, P.; Tsakov, I.; Tseepeldorj, B.; Tsipolitis, G.; Tsurin, I.; Turnau, J.; Tzamariudaki, E.; Urban, K.; Utkin, D.; Valkarova, A.; Vallee, C.; Van Mechelen, P.; Vargas Trevino, A.; Vazdik, Y.; Vinokurova, S.; Volchinski, V.; Weber, G.; Weber, R.; Wegener, D.; Werner, C.; Wessels, M.; Wissing, Ch.; Wolf, R.; Wunsch, E.; Xella, S.; Yeganov, V.; Zacek, J.; Zalesak, J.; Zhang, Z.; Zhelezov, A.; Zhokin, A.; Zhu, Y.C.; Zimmermann, T.; Zohrabyan, H.; Zomer, F.

2007-01-01

The average charged track multiplicity and the normalised distribution of the scaled momentum, $\\xp$, of charged final state hadrons are measured in deep-inelastic $\\ep$ scattering at high $Q^2$ in the Breit frame of reference. The analysis covers the range of photon virtuality $100 < Q^2 < 20 000 \\GeV^{2}$. Compared with previous results presented by HERA experiments this analysis has a significantly higher statistical precision and extends the phase space to higher $Q^{2}$ and to the full range of $\\xp$. The results are compared with $e^+e^-$ annihilation data and with various calculations based on perturbative QCD using different models of the hadronisation process.

Charged particle production in high Q2 deep-inelastic scattering at HERA

Science.gov (United States)

Aaron, F. D.; Aktas, A.; Alexa, C.; Andreev, V.; Antunovic, B.; Aplin, S.; Asmone, A.; Astvatsatourov, A.; Backovic, S.; Baghdasaryan, A.; Baranov, P.; Barrelet, E.; Bartel, W.; Baudrand, S.; Beckingham, M.; Begzsuren, K.; Behnke, O.; Behrendt, O.; Belousov, A.; Berger, N.; Bizot, J. C.; Boenig, M.-O.; Boudry, V.; Bozovic-Jelisavcic, I.; Bracinik, J.; Brandt, G.; Brinkmann, M.; Brisson, V.; Bruncko, D.; Büsser, F. W.; Bunyatyan, A.; Buschhorn, G.; Bystritskaya, L.; Campbell, A. J.; Avila, K. B. Cantun; Cassol-Brunner, F.; Cerny, K.; Cerny, V.; Chekelian, V.; Cholewa, A.; Contreras, J. G.; Coughlan, J. A.; Cozzika, G.; Cvach, J.; Dainton, J. B.; Daum, K.; Deak, M.; de Boer, Y.; Delcourt, B.; Del Degan, M.; Delvax, J.; De Roeck, A.; De Wolf, E. A.; Diaconu, C.; Dodonov, V.; Dubak, A.; Eckerlin, G.; Efremenko, V.; Egli, S.; Eichler, R.; Eisele, F.; Eliseev, A.; Elsen, E.; Essenov, S.; Falkiewicz, A.; Faulkner, P. J. W.; Favart, L.; Fedotov, A.; Felst, R.; Feltesse, J.; Ferencei, J.; Finke, L.; Fleischer, M.; Fomenko, A.; Franke, G.; Frisson, T.; Gabathuler, E.; Gayler, J.; Ghazaryan, S.; Ginzburgskaya, S.; Glazov, A.; Glushkov, I.; Goerlich, L.; Goettlich, M.; Gogitidze, N.; Gorbounov, S.; Gouzevitch, M.; Grab, C.; Greenshaw, T.; Gregori, M.; Grell, B. R.; Grindhammer, G.; Habib, S.; Haidt, D.; Hansson, M.; Heinzelmann, G.; Helebrant, C.; Henderson, R. C. W.; Henschel, H.; Herrera, G.; Hildebrandt, M.; Hiller, K. H.; Hoffmann, D.; Horisberger, R.; Hovhannisyan, A.; Hreus, T.; Jacquet, M.; Janssen, M. E.; Janssen, X.; Jemanov, V.; Jönsson, L.; Johnson, D. P.; Jung, A. W.; Jung, H.; Kapichine, M.; Katzy, J.; Kenyon, I. R.; Kiesling, C.; Klein, M.; Kleinwort, C.; Klimkovich, T.; Kluge, T.; Knutsson, A.; Korbel, V.; Kostka, P.; Kraemer, M.; Krastev, K.; Kretzschmar, J.; Kropivnitskaya, A.; Krüger, K.; Landon, M. P. J.; Lange, W.; Laštovička-Medin, G.; Laycock, P.; Lebedev, A.; Leibenguth, G.; Lendermann, V.; Levonian, S.; Li, G.; Lindfeld, L.; Lipka, K.; Liptaj, A.; List, B.; List, J.; Loktionova, N.; Lopez-Fernandez, R.; Lubimov, V.; Lucaci-Timoce, A.-I.; Lytkin, L.; Makankine, A.; Malinovski, E.; Marage, P.; Marti, Ll.; Martisikova, M.; Martyn, H.-U.; Maxfield, S. J.; Mehta, A.; Meier, K.; Meyer, A. B.; Meyer, H.; Meyer, H.; Meyer, J.; Michels, V.; Mikocki, S.; Milcewicz-Mika, I.; Mohamed, A.; Moreau, F.; Morozov, A.; Morris, J. V.; Mozer, M. U.; Müller, K.; Murín, P.; Nankov, K.; Naroska, B.; Naumann, Th.; Newman, P. R.; Niebuhr, C.; Nikiforov, A.; Nowak, G.; Nowak, K.; Nozicka, M.; Oganezov, R.; Olivier, B.; Olsson, J. E.; Osman, S.; Ozerov, D.; Palichik, V.; Panagoulias, I.; Pandurovic, M.; Papadopoulou, Th.; Pascaud, C.; Patel, G. D.; Peng, H.; Perez, E.; Perez-Astudillo, D.; Perieanu, A.; Petrukhin, A.; Picuric, I.; Piec, S.; Pitzl, D.; Plačakytė, R.; Polifka, R.; Povh, B.; Preda, T.; Prideaux, P.; Radescu, V.; Rahmat, A. J.; Raicevic, N.; Ravdandorj, T.; Reimer, P.; Risler, C.; Rizvi, E.; Robmann, P.; Roland, B.; Roosen, R.; Rostovtsev, A.; Rurikova, Z.; Rusakov, S.; Salek, D.; Salvaire, F.; Sankey, D. P. C.; Sauter, M.; Sauvan, E.; Schmidt, S.; Schmitt, S.; Schmitz, C.; Schoeffel, L.; Schöning, A.; Schultz-Coulon, H.-C.; Sefkow, F.; Shaw-West, R. N.; Sheviakov, I.; Shtarkov, L. N.; Sloan, T.; Smiljanic, I.; Smirnov, P.; Soloviev, Y.; South, D.; Spaskov, V.; Specka, A.; Staykova, Z.; Steder, M.; Stella, B.; Stiewe, J.; Straumann, U.; Sunar, D.; Sykora, T.; Tchoulakov, V.; Thompson, G.; Thompson, P. D.; Toll, T.; Tomasz, F.; Tran, T. H.; Traynor, D.; Trinh, T. N.; Truöl, P.; Tsakov, I.; Tseepeldorj, B.; Tsipolitis, G.; Tsurin, I.; Turnau, J.; Tzamariudaki, E.; Urban, K.; Utkin, D.; Valkárová, A.; Vallée, C.; Van Mechelen, P.; Trevino, A. Vargas; Vazdik, Y.; Vinokurova, S.; Volchinski, V.; Weber, G.; Weber, R.; Wegener, D.; Werner, C.; Wessels, M.; Wissing, Ch.; Wolf, R.; Wünsch, E.; Xella, S.; Yeganov, V.; Žáček, J.; Zálešák, J.; Zhang, Z.; Zhelezov, A.; Zhokin, A.; Zhu, Y. C.; Zimmermann, T.; Zohrabyan, H.; Zomer, F.; H1 Collaboration

2007-10-01

The average charged track multiplicity and the normalised distribution of the scaled momentum, xp, of charged final state hadrons are measured in deep-inelastic ep scattering at high Q2 in the Breit frame of reference. The analysis covers the range of photon virtuality 100 <Q2 < 20 000 GeV2. Compared with previous results presented by HERA experiments this analysis has a significantly higher statistical precision and extends the phase space to higher Q2 and to the full range of xp. The results are compared with e+e- annihilation data and with various calculations based on perturbative QCD using different models of the hadronisation process.

Distinct functions of human RecQ helicases during DNA replication.

Science.gov (United States)

Urban, Vaclav; Dobrovolna, Jana; Janscak, Pavel

2017-06-01

DNA replication is the most vulnerable process of DNA metabolism in proliferating cells and therefore it is tightly controlled and coordinated with processes that maintain genomic stability. Human RecQ helicases are among the most important factors involved in the maintenance of replication fork integrity, especially under conditions of replication stress. RecQ helicases promote recovery of replication forks being stalled due to different replication roadblocks of either exogenous or endogenous source. They prevent generation of aberrant replication fork structures and replication fork collapse, and are involved in proper checkpoint signaling. The essential role of human RecQ helicases in the genome maintenance during DNA replication is underlined by association of defects in their function with cancer predisposition. Copyright © 2016 Elsevier B.V. All rights reserved.

Q2/Q3 2017 Solar Industry Update

Energy Technology Data Exchange (ETDEWEB)

Feldman, David J. [National Renewable Energy Lab. (NREL), Golden, CO (United States); Hoskins, Jack [Dept. of Energy (DOE), Washington DC (United States); Margolis, Robert M. [National Renewable Energy Lab. (NREL), Golden, CO (United States)

2017-10-24

This technical presentation provides an update on the major trends that occurred in the solar industry in Q2 and Q3 of 2017. Major topics of focus include global and U.S. supply and demand, module and system price, investment trends and business models, and updates on U.S. government programs supporting the solar industry.

Q2/Q3 2016 Solar Industry Update

Energy Technology Data Exchange (ETDEWEB)

Feldman, David; Boff, Daniel; Margolis, Robert

2016-10-11

This technical presentation provides an update on the major trends that occurred in the solar industry in the Q2 and Q3 of 2016. Major topics of focus include global and U.S. supply and demand, module and system price, investment trends and business models, and updates on U.S. government programs supporting the solar industry.

Q3/Q4 2016 Solar Industry Update

Energy Technology Data Exchange (ETDEWEB)

Feldman, David; Boff, Daniel; Margolis, Robert

2016-12-21

This technical presentation provides an update on the major trends that occurred in the solar industry in the Q3 and Q4 of 2016. Major topics of focus include global and U.S. supply and demand, module and system price, investment trends and business models, and updates on U.S. government programs supporting the solar industry.

Q3/Q4 2017 Solar Industry Update

Energy Technology Data Exchange (ETDEWEB)

Feldman, David J. [National Renewable Energy Lab. (NREL), Golden, CO (United States); Hoskins, Jack [Dept. of Energy (DOE), Washington DC (United States); Margolis, Robert M. [National Renewable Energy Lab. (NREL), Golden, CO (United States)

2018-02-15

This technical presentation provides an update on the major trends that occurred in the solar industry in the Q3 and Q4 of 2017. Major topics of focus include global and U.S. supply and demand, module and system price, investment trends and business models, and updates on U.S. government programs supporting the solar industry.

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

Directory of Open Access Journals (Sweden)

Grabe Hans

2010-06-01

Full Text Available Abstract Background Obsessive-compulsive disorder (OCD is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome, suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients. Methods We screened the 15q11-13 and 22q11.2 chromosomal regions for genomic imbalances in 236 patients with OCD using multiplex ligation-dependent probe amplification (MLPA. Results No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients. Conclusions Our results suggest that deletions/duplications of chromosomes 15q11-13 and 22q11.2 are rare in OCD. Despite the negative findings in these two regions, the search for copy number variants in OCD using genome-wide array-based methods is a highly promising approach to identify genes of etiologic importance in the development of OCD.

Inversion of chromosome 7q22 and q36 as a sole abnormality presenting in myelodysplastic syndrome: a case report.

Science.gov (United States)

Kaneko, Hiroto; Shimura, Kazuho; Kuwahara, Saeko; Ohshiro, Muneo; Tsutsumi, Yasuhiko; Iwai, Toshiki; Horiike, Shigeo; Yokota, Shouhei; Ohkawara, Yasuo; Taniwaki, Masafumi

2014-08-05

Deletions of chromosome 7 are often detected in myelodysplastic syndrome. The most commonly deleted segments are clustered at band 7q22. A critical gene is therefore suggested to be located in this region. We report a patient with myelodysplastic syndrome whose marrow cells carried an inversion of 7q22 and q36 as a sole karyotypic abnormality. How this extremely rare chromosomal aberration contributes to the pathogenesis of myelodysplastic syndrome should be clarified by accumulating clinical data of such cases. A 74-year-old Japanese man presented with pancytopenia incidentally detected by routine medical check-up. His complete blood cell counts revealed that his white blood cells had decreased to 2100/mm3, neutrophils 940/mm3, red blood cells 320×104/mm3, hemoglobin 11.1g/dL, hematocrit 33.1%, and platelets 12.6×104/mm3. Bone marrow examination showed normal cellularity with nucleated cells of 9.4×104/mm3. The proportion of blasts was 4%. A morphological examination showed only basophilic stippling of erythroblasts which was seen as dysplasia. According to World Health Organization classification, the diagnosis was myelodysplastic syndrome-u. Karyotypic analysis showed 46,XY,inv(7)(q22q36) in all of 20 metaphases examined. Additional analysis revealed the karyotype of his lymphocytes was 46,XY. He is asymptomatic and cytopenia has slowly progressed. To the best of our knowledge, this karyotype from a clinical sample of de novo malignancies has never been documented although the identical karyotype from secondary myelodysplastic syndrome was reported. Despite the extremely low frequency, inversion of 7q22 appears to play a crucial role for myelodysplastic syndrome in this patient.

The q-G method : A q-version of the Steepest Descent method for global optimization.

Science.gov (United States)

Soterroni, Aline C; Galski, Roberto L; Scarabello, Marluce C; Ramos, Fernando M

2015-01-01

In this work, the q-Gradient (q-G) method, a q-version of the Steepest Descent method, is presented. The main idea behind the q-G method is the use of the negative of the q-gradient vector of the objective function as the search direction. The q-gradient vector, or simply the q-gradient, is a generalization of the classical gradient vector based on the concept of Jackson's derivative from the q-calculus. Its use provides the algorithm an effective mechanism for escaping from local minima. The q-G method reduces to the Steepest Descent method when the parameter q tends to 1. The algorithm has three free parameters and it is implemented so that the search process gradually shifts from global exploration in the beginning to local exploitation in the end. We evaluated the q-G method on 34 test functions, and compared its performance with 34 optimization algorithms, including derivative-free algorithms and the Steepest Descent method. Our results show that the q-G method is competitive and has a great potential for solving multimodal optimization problems.

q-trace for quantum groups and q-deformed Yang-Mills theory

International Nuclear Information System (INIS)

Isaev, A.P.; Popowicz, Z.

1992-01-01

The definitions of orbits and q-trace for the quantum groups are introduced. Then the q-trace is used to construct the invariants for the quantum group orbits and to formulate the q-deformed Yang-Mills theory. The amusing formal relation of the Weinberg type mixing angle with the quantum group deformation parameter is discussed. (orig.)

The Q-angle and sport

DEFF Research Database (Denmark)

Hahn, Thomas; Foldspang, Anders

1997-01-01

Quadriceps muscle contraction tends to straighten the Q angle. We expected that sports comprising a high amount of quadriceps training could be associated with low Q angles. The aim of the present study was to estimate the Q angle in athletes and to investigate its potential associations with par......Quadriceps muscle contraction tends to straighten the Q angle. We expected that sports comprising a high amount of quadriceps training could be associated with low Q angles. The aim of the present study was to estimate the Q angle in athletes and to investigate its potential associations...... with participation in sport. Three hundred and thirty-nine athletes had their Q angle measured. The mean of right-side Q angles was higher than left side, and the mean Q angle was higher in women than in men. The Q angle was positively associated with years of jogging, and negatively with years of soccer, swimming...... and sports participation at all. It is concluded that the use of Q angle measurements is questionable....

Best polynomial degree reduction on q-lattices with applications to q-orthogonal polynomials

KAUST Repository

Ait-Haddou, Rachid

2015-06-07

We show that a weighted least squares approximation of q-Bézier coefficients provides the best polynomial degree reduction in the q-L2-norm. We also provide a finite analogue of this result with respect to finite q-lattices and we present applications of these results to q-orthogonal polynomials. © 2015 Elsevier Inc. All rights reserved.

Best polynomial degree reduction on q-lattices with applications to q-orthogonal polynomials

KAUST Repository

Ait-Haddou, Rachid; Goldman, Ron

2015-01-01

We show that a weighted least squares approximation of q-Bézier coefficients provides the best polynomial degree reduction in the q-L2-norm. We also provide a finite analogue of this result with respect to finite q-lattices and we present applications of these results to q-orthogonal polynomials. © 2015 Elsevier Inc. All rights reserved.

Study of structural and optical properties of ZnAlQ{sub 5} (zinc aluminum quinolate) organic phosphor for OLED applications

Energy Technology Data Exchange (ETDEWEB)

Nagpure, I. M., E-mail: indrajitnagpure@gmail.com; Painuly, Deepshikha [Physics, Department of Sciences and Humanities, National Institute of Technology,Uttarakhand-246174 (India); Rabanal, Maria Eugenia [Department of Materials Science and Engineering and Chemical Engineering,University Carlos III of Madrid, Avd. Universidad 30, 28911 Leganes, Madrid (Spain)

2016-05-06

The various composition of ZnAlQ{sub 5} such as Zn{sub 1.5}A{sub 10.5}Q{sub 5}, Zn{sub 1}Al{sub 1}Q{sub 5}, Zn{sub 0.5}Al{sub 1.5}Q{sub 5} organic phosphors were prepared via simple cost effective co-precipitation method. The FTIR, SEM, photoluminescence analysis of the prepared phosphors were reported. ZnQ{sub 2} and AlQ{sub 3} were also prepared by similar method and their properties were compared with different composition of ZnAlQ{sub 5}. The structural elucidation in the form of stretching frequencies of chemical bonds of the prepared phosphor was carried out using Fourier Transform Infrared Spectroscopy (FTIR). The stretching frequency analysis confirms the formation of prepared phosphor materials. The SEM analysis shows the surface morphological behavior of prepared phosphor materials. Greenish photoluminescence were observed at 505 to 510 nm for the different composition of ZnAlQ{sub 5},in which Zn{sub 1.5}Al{sub 0.5}Q{sub 5} shows maximum luminescence intensity at 505 nm. PL emission of ZnQ{sub 2} was observed at 515 nm, while for AlQ{sub 3} at 520 nm. The blue shift of 10 nm was observed in Zn{sub 1.5}A{sub 10.5}Q{sub 5} due to modification of energy level due to presence of Zn{sup 2+} and Al{sup 3+}. The enhancement in PL intensity was observed in Zn{sub 1.5}A{sub 10.5}Q{sub 5} compared to the other composition due to transfer of energy between Zn{sup 2+} and quinolate complex. Optical properties of the prepared materials were evaluated for possible applications in organic light emitting devices (OLED).

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.

q-analogue of summability of formal solutions of some linear q-difference-differential equations

Directory of Open Access Journals (Sweden)

Hidetoshi Tahara

2015-01-01

Full Text Available Let \\(q\\gt 1\\. The paper considers a linear \\(q\\-difference-differential equation: it is a \\(q\\-difference equation in the time variable \\(t\\, and a partial differential equation in the space variable \\(z\\. Under suitable conditions and by using \\(q\\-Borel and \\(q\\-Laplace transforms (introduced by J.-P. Ramis and C. Zhang, the authors show that if it has a formal power series solution \\(\\hat{X}(t,z\\ one can construct an actual holomorphic solution which admits \\(\\hat{X}(t,z\\ as a \\(q\\-Gevrey asymptotic expansion of order \\(1\\.

Copy number aberrations landscape of a breast tumor, connection with the efficiency of neoadjuvant chemotherapy

Science.gov (United States)

Ibragimova, M. K.; Tsyganov, M. M.; Slonimskaya, E. M.; Litviakov, N. V.

2017-09-01

The research involved 80 patients diagnosed with breast cancer (BC). Each patient had their tumor biopsy material sampled before their treatment. We studied the tumor tissue using the CytoScan HD Array (Affymetrix, USA) microarray to evaluate the CNA landscape. We studied the frequency of segmental and numerical CNA occurrence, their association with the efficiency of neoadjuvant chemotherapy (NAC). We found that the biggest number of amplifications (with frequency over 60%) were found on in the following locuses; 1q32.1 1q32.3, 1q42.13, 1q42.2, 1q43. The biggest frequency of deletions (more than in 58% of the patients) was found in these locuses: 16q21, 16q23.2, 16q23.3, 17p12, 17p13.1. However, we found the locuses with full absence of segmental chromosome anomalies. We observed trisomy most frequently in the 7, 8, 12, and 17 chromosomes, and monosomy in the 3, 4, 9, 11, 18, and X-chromosomes. We demonstrated the connection between the high frequency of cytobands with CNA in the patients' tumors and the efficiency of NAC. We also identified the cytobands, whose CNA are linked to the response to NAC.

The q-Onsager algebra and multivariable q-special functions

Science.gov (United States)

Baseilhac, Pascal; Vinet, Luc; Zhedanov, Alexei

2017-09-01

Two sets of mutually commuting q-difference operators x i and y j , i,j=1,...,N such that x i and y i generate a homomorphic image of the q-Onsager algebra for each i are introduced. The common polynomial eigenfunctions of each set are found to be entangled product of elementary Pochhammer functions in N variables and N+3 parameters. Under certain conditions on the parameters, they form two ‘dual’ bases of polynomials in N variables. The action of each operator with respect to its dual basis is block tridiagonal. The overlap coefficients between the two dual bases are expressed as entangled products of q-Racah polynomials and satisfy an orthogonality relation. The overlap coefficients between either one of these bases and the multivariable monomial basis are also considered. One obtains in this case entangled products of dual q-Krawtchouk polynomials. Finally, the ‘split’ basis in which the two families of operators act as block bidiagonal matrices is also provided.

22q11.2 deletion syndrome

Science.gov (United States)

McDonald-McGinn, Donna M.; Sullivan, Kathleen E.; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A. S.; Zackai, Elaine H.; Emanuel, Beverly S.; Vermeesch, Joris R.; Morrow, Bernice E.; Scambler, Peter J.; Bassett, Anne S.

2016-01-01

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population. PMID:27189754

Psychopathology and cognition in children with 22q11.2 deletion syndrome

Science.gov (United States)

Niarchou, Maria; Zammit, Stanley; van Goozen, Stephanie H. M.; Thapar, Anita; Tierling, Hayley M.; Owen, Michael J.; van den Bree, Marianne B. M.

2014-01-01

Background Children with 22q11.2 deletion syndrome (22q11.2DS) have been reported to have high rates of cognitive and psychiatric problems. Aims To establish the nature and prevalence of psychiatric disorder and neurocognitive impairment in children with 22q11.2DS and test whether risk of psychopathology is mediated by the children’s intellectual impairment. Method Neurocognition and psychopathology were assessed in 80 children with 22q11.2DS (mean age 10.2 years, s.d. = 2.1) and 39 sibling controls (mean age 10.9 years, s.d. = 2.0). Results More than half (54%) of children with 22q11.2DS met diagnostic criteria for one or more DSM-IV-TR psychiatric disorder. These children had lower IQ (mean 76.8, s.d. = 13.0) than controls (mean 108.6, s.d. = 15.2) (Ppsychopathology was not mediated by intellectual impairment. Conclusions 22q11.2DS is not related to a specific psychiatric phenotype in children. Moreover, the deletion has largely independent effects on IQ and risk of psychopathology, indicating that psychopathology in 22q11.2DS is not a non-specific consequence of generalised cognitive impairment. PMID:24115343

Tricriticality in the q-neighbor Ising model on a partially duplex clique.

Science.gov (United States)

Chmiel, Anna; Sienkiewicz, Julian; Sznajd-Weron, Katarzyna

2017-12-01

We analyze a modified kinetic Ising model, a so-called q-neighbor Ising model, with Metropolis dynamics [Phys. Rev. E 92, 052105 (2015)PLEEE81539-375510.1103/PhysRevE.92.052105] on a duplex clique and a partially duplex clique. In the q-neighbor Ising model each spin interacts only with q spins randomly chosen from its whole neighborhood. In the case of a duplex clique the change of a spin is allowed only if both levels simultaneously induce this change. Due to the mean-field-like nature of the model we are able to derive the analytic form of transition probabilities and solve the corresponding master equation. The existence of the second level changes dramatically the character of the phase transition. In the case of the monoplex clique, the q-neighbor Ising model exhibits a continuous phase transition for q=3, discontinuous phase transition for q≥4, and for q=1 and q=2 the phase transition is not observed. On the other hand, in the case of the duplex clique continuous phase transitions are observed for all values of q, even for q=1 and q=2. Subsequently we introduce a partially duplex clique, parametrized by r∈[0,1], which allows us to tune the network from monoplex (r=0) to duplex (r=1). Such a generalized topology, in which a fraction r of all nodes appear on both levels, allows us to obtain the critical value of r=r^{*}(q) at which a tricriticality (switch from continuous to discontinuous phase transition) appears.

NCBI nr-aa BLAST: CBRC-GACU-20-0015 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-GACU-20-0015 ref|NP_899188.1| progestin and adipoQ receptor family member VII ...[Danio rerio] ref|XP_001340911.1| PREDICTED: similar to membrane progestin receptor alpha [Danio rerio] sp|Q...801G2|MPRA_BRARE Membrane progestin receptor alpha (mPR alpha) (Progestin and adipoQ receptor family member ...VII) gb|AAN78115.1| membrane progestin receptor alpha [Danio rerio] NP_899188.1 1e-164 76% ...

Estimating q-hat in Quenched Lattice SU(2) Gauge Theory

International Nuclear Information System (INIS)

Majumder, Abhijit

2013-01-01

The propagation of a virtual quark in a thermal medium is considered. The non-perturbative jet transport coefficient q -hat is estimated in quark less SU(2) lattice gauge theory. The light like correlator which defines q -hat , defined in the regime where the jet has small virtuality compared to its energy, is analytically related to a series of local operators in the deep Euclidean region, where the jet's virtuality is of the same order as its energy. It is demonstrated that in this region, for temperatures in the range of T=400–600 MeV, and for jet energies above 20 GeV, the leading term in the series is dominant over the next-to-leading term and thus yields an estimate of the value of q -hat . In these proceedings we discuss the details of the numerical calculation

Oscillator construction of su(n|m) Q-operators

Energy Technology Data Exchange (ETDEWEB)

Frassek, Rouven, E-mail: rfrassek@physik.hu-berlin.de [Institut fuer Mathematik und Institut fuer Physik, Humboldt-Universitaet zu Berlin, Johann von Neumann-Haus, Rudower Chaussee 25, 12489 Berlin (Germany); Max-Planck-Institut fuer Gravitationsphysik, Albert-Einstein-Institut, Am Muehlenberg 1, 14476 Potsdam (Germany); Lukowski, Tomasz, E-mail: lukowski@mathematik.hu-berlin.de [Institut fuer Mathematik und Institut fuer Physik, Humboldt-Universitaet zu Berlin, Johann von Neumann-Haus, Rudower Chaussee 25, 12489 Berlin (Germany); Meneghelli, Carlo, E-mail: carlo@aei.mpg.de [Institut fuer Mathematik und Institut fuer Physik, Humboldt-Universitaet zu Berlin, Johann von Neumann-Haus, Rudower Chaussee 25, 12489 Berlin (Germany); Max-Planck-Institut fuer Gravitationsphysik, Albert-Einstein-Institut, Am Muehlenberg 1, 14476 Potsdam (Germany); Staudacher, Matthias, E-mail: matthias@aei.mpg.de [Institut fuer Mathematik und Institut fuer Physik, Humboldt-Universitaet zu Berlin, Johann von Neumann-Haus, Rudower Chaussee 25, 12489 Berlin (Germany); Max-Planck-Institut fuer Gravitationsphysik, Albert-Einstein-Institut, Am Muehlenberg 1, 14476 Potsdam (Germany)

2011-09-01

We generalize our recent explicit construction of the full hierarchy of Baxter Q-operators of compact spin chains with su(n) symmetry to the supersymmetric case su(n|m). The method is based on novel degenerate solutions of the graded Yang-Baxter equation, leading to an amalgam of bosonic and fermionic oscillator algebras. Our approach is fully algebraic, and leads to the exact solution of the associated compact spin chains while avoiding Bethe ansatz techniques. It furthermore elucidates the algebraic and combinatorial structures underlying the system of nested Bethe equations. Finally, our construction naturally reproduces the representation, due to Z. Tsuboi, of the hierarchy of Baxter Q-operators in terms of hypercubic Hasse diagrams.

Q2 dependence of the spin structure function in the resonance region

International Nuclear Information System (INIS)

Li, Z.; Li, Z.

1994-01-01

In this paper, we show what we can learn from the CEBAF experiments on spin-structure functions, and the transition from the Drell-Hearn-Gerasimov sum rule in the real photon limit to the spin-dependent sum rules in deep inelastic scattering, and how the asymmetry A 1 (x,Q 2 ) approaches the scaling limit in the resonance region. The spin structure function in the resonance region alone cannot determine the spin-dependent sum rule due to the kinematic restriction of the resonance region. The integral ∫ 0 1 {A 1 (x,Q 2 )F 2 (x,Q 2 )/2x[1+R(x,Q 2 )]}dx is estimated from Q 2 =0--2.5 GeV 2 . The result shows that there is a region where both contributions from the baryon resonances and the deep inelastic scattering are important; thus it provides important information on the high twist effects on the spin-dependent sum rule

A discrimination between Quercus robur L. and Q. petraea

NARCIS (Netherlands)

Bakker, E.G.; Dam, van B.C.; Eck, van H.J.; Jacobsen, E.

2001-01-01

In natural populations, Quercus robur L. and Q. petraea (Matt.) Liebl. comprise a morphological continuum due to hybridization and/or an overlap in variation between the two species. In order to obtain diagnostic markers to investigate these morphological intermediate forms, leaf morphology and AFLP

Land motion due to 20th century mass balance of the Greenland Ice Sheet

Science.gov (United States)

Kjeldsen, K. K.; Khan, S. A.

2017-12-01

Quantifying the contribution from ice sheets and glaciers to past sea level change is of great value for understanding sea level projections into the 21st century. However, quantifying and understanding past changes are equally important, in particular understanding the impact in the near-field where the signal is highest. We assess the impact of 20th century mass balance of the Greenland Ice Sheet on land motion using results from Kjeldsen et al, 2015. These results suggest that the ice sheet on average lost a minimum of 75 Gt/yr, but also show that the mass balance was highly spatial- and temporal variable, and moreover that on a centennial time scale changes were driven by a decreasing surface mass balance. Based on preliminary results we discuss land motion during the 20th century due to mass balance changes and the driving components surface mass balance and ice dynamics.

Dielectric (p,q) strings in a throat

International Nuclear Information System (INIS)

Firouzjahi, Hassan

2006-01-01

We calculate the (p,q) string spectrum in a warped deformed conifold using the dielectric brane method. The spectrum is shown to have the same functional form as in the dual picture of a wrapped D3-brane with electric and magnetic fluxes on its world volume. The agreement is exact in the limit where q is large. We also calculate the dielectric spectrum in the S-dual picture. The spectrum in the S-dual picture has the same form as in the original picture but it is not exactly S-dual invariant due to an interchange of Casimirs of the non-Abelian gauge symmetries. We argue that in order to restore S-duality invariance the non-Abelian brane action should be refined, probably by a better prescription for the non-Abelian trace operation

Identification, Cloning, and Expression of Potential Diagnostic Markers for Q Fever

National Research Council Canada - National Science Library

Chao, C. C; Chen, H. W; Li, X; Xu, W. B; Hanson, B; Ching, W. M

2005-01-01

The clinical diagnosis of Q fever is difficult. Whole cell antigens are currently used in several serological methods, but antigens are limited due to the hazardous nature of Coxiella burnetii cultivation...

Broadband generation by multiple four-wave mixing process due to ASE Q-switching in high-power double-clad ytterbium-doped fiber amplifier

Science.gov (United States)

Chowdhury, Sourav D.; Shekhar, Nishant; Saha, Maitreyee; Sen, Ranjan; Pal, Mrinmay

2014-11-01

Broadband output from 1060nm to 1700nm and cascaded four-wave mixing generated red light pulsing is observed in a fiber amplifier set up consisting of a 5.5m double clad, double D shaped Ytterbium doped fiber, a single clad passive fiber for excess pump absorption and a splitter, both with and without a CW seed. Self-pulsing occurs from ASE due to passive Q-switching by saturable absorption effect of the active fiber and also depends on splice loss. The pulses generate broadband output by multiple four-wave mixing process with maximum broadening efficiency near 1300nm which is the zero dispersion wavelength for silica fiber. Pulses traveling both in forward and backward direction have enough peak power and energy to damage splice points and fiber components. When seeded the self-pulsing and broadband generation is often suppressed but again generate at increased pump powers.

Deletion 22q13.3 syndrome

Directory of Open Access Journals (Sweden)

Phelan Mary C

2008-05-01

Full Text Available Abstract The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH or array comparative genomic hybridization (CGH is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy. Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.

Directory of Open Access Journals (Sweden)

Lucia V Schottlaender

Full Text Available The objective of this study was to evaluate whether the levels of coenzyme Q10 (CoQ10 in brain tissue of multiple system atrophy (MSA patients differ from those in elderly controls and in patients with other neurodegenerative diseases.Flash frozen brain tissue of a series of 20 pathologically confirmed MSA patients [9 olivopontocerebellar atrophy (OPCA type, 6 striatonigral degeneration (SND type, and 5 mixed type] was used for this study. Elderly controls (n = 37 as well as idiopathic Parkinson's disease (n = 7, dementia with Lewy bodies (n = 20, corticobasal degeneration (n = 15 and cerebellar ataxia (n = 18 patients were used as comparison groups. CoQ10 was measured in cerebellar and frontal cortex tissue by high performance liquid chromatography.We detected a statistically significant decrease (by 3-5% in the level of CoQ10 in the cerebellum of MSA cases (P = 0.001, specifically in OPCA (P = 0.001 and mixed cases (P = 0.005, when compared to controls as well as to other neurodegenerative diseases [dementia with Lewy bodies (P<0.001, idiopathic Parkinson's disease (P<0.001, corticobasal degeneration (P<0.001, and cerebellar ataxia (P = 0.001].Our results suggest that a perturbation in the CoQ10 biosynthetic pathway is associated with the pathogenesis of MSA but the mechanism behind this finding remains to be elucidated.

Inter-laboratory project q calibration of SANS instruments using silver behenate

International Nuclear Information System (INIS)

Ikram, Abarrul; Gunawan; Edy Giri, Putra; Suzuki, Jun-ichi; Knott, Robert

2000-01-01

The inter-laboratory project for q-calibration of SANS (small angle neutron scattering) using silver behenate was carried out among Indonesia National Nuclear Energy Agency (BATAN), Japan Atomic Energy Research Institute (JAERI) and Australian Nuclear Science and Technology Organization (ANSTO). The standard sample of silver behenate, [CH 3 (CH 2 ) 20 COOAg](AgBE), has been assessed as an international standard for the calibration of both x-ray and neutron scattering instruments. The results indicate excellent agreement for q calibration obtained among the three laboratories, BATAN, JAERI and ANSTO. (Y. Kazumata)

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

Directory of Open Access Journals (Sweden)

Javier Sánchez

2012-01-01

Full Text Available Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14, and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

The biological activity of human CD20 monoclonal antibodies is linked to unique epitopes on CD20

NARCIS (Netherlands)

Teeling, J.L.; Mackus, W.J.M.; Wiegman, L.; Brakel, van den J.H.N.; Beers, S.A.; French, R.R.; Meerten, van T.; Ebeling, S.; Vink, T.; Slootstra, J.W.; Parren, P.; Glennie, M.J.; Winkel, van de J.G.J.

2006-01-01

We have previously defined a panel of fully human CD20 mAb. Most of these were unexpectedly efficient in their ability to recruit C1q to the surface of CD20-positive cells and mediate tumor lysis via activation of the classical pathway of complement. This complement-dependent cytotoxicity (CDC)

Q-values and Attenuation of the Shallow Crust Under Uturuncu Volcano, Bolivia

Science.gov (United States)

Mcfarlin, H. L.; McNutt, S. R.; Thompson, G.

2017-12-01

Uturuncu Volcano, located in the Altiplano-Puna region of the central Andes, near the border of Bolivia and Chile, has been shown to be inflating at a rate of 1-2 cm/yr over an area that is about 70 km wide. The PLUTONS project deployed 28 broadband seismometers around Uturuncu from April 2009 to October 2012. Several thousand shallow (depth < 20 km) local earthquakes were recorded. Attenuation of seismic waves along travel paths for these local crustal earthquakes can be measured by calculating Q-values, which we have performed using the method of single station spectral ratios by Frankel (1982). Large scatter in the Q-values for various distances and travel times appear to be a function of variations in source depth, focal mechanism, and back azimuth. Preliminary Q-values were calculated for azimuths in 30° increments in sectors around each station. Estimates for Q range from about 60 to 700, with many showing a low Q in the direction of the summit from each station. This suggests that the volcanic pile is more highly attenuating than the surrounding crust.

Exclusion of 22q11 deletion in Noonan syndrome with Tetralogy of Fallot

Energy Technology Data Exchange (ETDEWEB)

Digilio, M.C.; Marino, B.; Giannotti, A. [Bambino Gesu Hospital, Rome (Italy); Dallapiccola, B. [Univ. of Tor Vergata, Rome (Italy)]|[Casa Sollievo Sofferenza Hospital, San Giovanni Rotondo (Italy)

1996-04-24

We read with interest the report of Robin et al. [1995] published in recent issue of the Journal. The authors described 6 patients with Noonan syndrome (NS) who underwent molecular evaluation for submicroscopic deletion of chromosome band 22q11. None of those patients presented with conotruncal heart defects. Evidence for 22q11 hemizygosity was demonstrated in only one patient. This patient had NS-like manifestations without clinical manifestations of DiGeorge (DG) or velo-cardio-facial (VCF) syndromes. The molecular results obtained in the other 5 patients led the authors to conclude that classical NS is not due to del(22)(q11), even if some patients with del(22)(q11) may present NS-like manifestations. 12 refs., 1 tab.

Maths-type q-deformed coherent states for q>1

International Nuclear Information System (INIS)

Quesne, C.; Penson, K.A.; Tkachuk, V.M.

2003-01-01

Maths-type q-deformed coherent states with q>1 allow a resolution of unity in the form of an ordinary integral. They are sub-Poissonian and squeezed. They may be associated with a harmonic oscillator with minimal uncertainties in both position and momentum and are intelligent coherent states for the corresponding deformed Heisenberg algebra

Two girls with a de novo Xq rearrangement of paternal origin: t(X;9(q24;q12 or rea(Xdup q

Directory of Open Access Journals (Sweden)

Ana I. Vásquez-Velásquez

2016-04-01

Full Text Available Objective: We report on two rare Xq rearrangements, namely a t(X;9(q24;q12 found in a mildly-affected girl (Patient 1 and a rea(Xdup q concomitant with a rob(14;21mat in a Down syndrome girl (Patient 2. Case report: Both rearrangements were characterized by banding techniques [Giemsa (G, constitutive heterochromatin (C, and bromodeoxyuridine (BrdU pulse], fluorescence in situ hybridization (FISH assays, human androgen receptor (HUMAR assays, and microarray analyses. Patient 1 had a t(X;9(q24;q12dn. Patient 2 had a de novo rea(X(qter→q23 or q24::p11.2→qter concomitant with an unbalanced rob(14;21mat. X-Inactivation studies in metaphases and DNA revealed a fully skewed inactivation: the normal homolog was silenced in Patient 1 and the rea(X in Patient 2. Both rearranged X chromosomes were of paternal descent. Microarray analyses revealed no imbalances in Patient 1 whereas loss of Xp (∼52 Mb and duplication of Xq (∼44 Mb and 21q were confirmed in Patient 2. Conclusion: Our observations further document the cytogenetic heterogeneity and predominant paternal origin of certain de novo X-chromosome rearrangements.

Genomic Anatomy of a Premier Major Histocompatibility Complex Paralogous Region on Chromosome 1q21–q22

Science.gov (United States)

Shiina, Takashi; Ando, Asako; Suto, Yumiko; Kasai, Fumio; Shigenari, Atsuko; Takishima, Nobusada; Kikkawa, Eri; Iwata, Kyoko; Kuwano, Yuko; Kitamura, Yuka; Matsuzawa, Yumiko; Sano, Kazumi; Nogami, Masahiro; Kawata, Hisako; Li, Suyun; Fukuzumi, Yasuhito; Yamazaki, Masaaki; Tashiro, Hiroyuki; Tamiya, Gen; Kohda, Atsushi; Okumura, Katsuzumi; Ikemura, Toshimichi; Soeda, Eiichi; Mizuki, Nobuhisa; Kimura, Minoru; Bahram, Seiamak; Inoko, Hidetoshi

2001-01-01

Human chromosomes 1q21–q25, 6p21.3–22.2, 9q33–q34, and 19p13.1–p13.4 carry clusters of paralogous loci, to date best defined by the flagship 6p MHC region. They have presumably been created by two rounds of large-scale genomic duplications around the time of vertebrate emergence. Phylogenetically, the 1q21–25 region seems most closely related to the 6p21.3 MHC region, as it is only the MHC paralogous region that includes bona fide MHC class I genes, the CD1 and MR1 loci. Here, to clarify the genomic structure of this model MHC paralogous region as well as to gain insight into the evolutionary dynamics of the entire quadriplication process, a detailed analysis of a critical 1.7 megabase (Mb) region was performed. To this end, a composite, deep, YAC, BAC, and PAC contig encompassing all five CD1 genes and linking the centromeric +P5 locus to the telomeric KRTC7 locus was constructed. Within this contig a 1.1-Mb BAC and PAC core segment joining CD1D to FCER1A was fully sequenced and thoroughly analyzed. This led to the mapping of a total of 41 genes (12 expressed genes, 12 possibly expressed genes, and 17 pseudogenes), among which 31 were novel. The latter include 20 olfactory receptor (OR) genes, 9 of which are potentially expressed. Importantly, CD1, SPTA1, OR, and FCERIA belong to multigene families, which have paralogues in the other three regions. Furthermore, it is noteworthy that 12 of the 13 expressed genes in the 1q21–q22 region around the CD1 loci are immunologically relevant. In addition to CD1A-E, these include SPTA1, MNDA, IFI-16, AIM2, BL1A, FY and FCERIA. This functional convergence of structurally unrelated genes is reminiscent of the 6p MHC region, and perhaps represents the emergence of yet another antigen presentation gene cluster, in this case dedicated to lipid/glycolipid antigens rather than antigen-derived peptides. [The nucleotide sequence data reported in this paper have been submitted to the DDBJ, EMBL, and GenBank databases under

High rates of de novo 15q11q13 inversions in human spermatozoa

Directory of Open Access Journals (Sweden)

Molina Òscar

2012-02-01

Full Text Available Abstract Low-Copy Repeats predispose the 15q11-q13 region to non-allelic homologous recombination. We have already demonstrated that a significant percentage of Prader-Willi syndrome (PWS fathers have an increased susceptibility to generate 15q11q13 deletions in spermatozoa, suggesting the participation of intrachromatid exchanges. This work has been focused on assessing the incidence of de novo 15q11q13 inversions in spermatozoa of control donors and PWS fathers in order to determine the basal rates of inversions and to confirm the intrachromatid mechanism as the main cause of 15q11q13 anomalies. Semen samples from 10 control donors and 16 PWS fathers were processed and analyzed by triple-color FISH. Three differentially labeled BAC-clones were used: one proximal and two distal of the 15q11-q13 region. Signal associations allowed the discrimination between normal and inverted haplotypes, which were confirmed by laser-scanning confocal microscopy. Two types of inversions were detected which correspond to the segments involved in Class I and II PWS deletions. No significant differences were observed in the mean frequencies of inversions between controls and PWS fathers (3.59% ± 0.46 and 9.51% ± 0.87 vs 3.06% ± 0.33 and 10.07% ± 0.74. Individual comparisons showed significant increases of inversions in four PWS fathers (P Results suggest that the incidence of heterozygous inversion carriers in the general population could reach significant values. This situation could have important implications, as they have been described as predisposing haplotypes for genomic disorders. As a whole, results confirm the high instability of the 15q11-q13 region, which is prone to different types of de novo reorganizations by intrachromatid NAHR.

Q4 2017/Q1 2018 Solar Industry Update

Energy Technology Data Exchange (ETDEWEB)

Feldman, David J [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Margolis, Robert M [National Renewable Energy Laboratory (NREL), Golden, CO (United States); Hoskins, Jack [U.S. Department of Energy

2018-05-16

This technical presentation provides an update on the major trends that occurred in the solar industry in Q4 2017 and Q1 2018. Major topics of focus include global and U.S. supply and demand, module and system price, investment trends and business models, and updates on U.S. government programs supporting the solar industry.

Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21

Science.gov (United States)

Zhang, Mingfeng; Wang, Zhaoming; Obazee, Ofure; Jia, Jinping; Childs, Erica J.; Hoskins, Jason; Figlioli, Gisella; Mocci, Evelina; Collins, Irene; Chung, Charles C.; Hautman, Christopher; Arslan, Alan A.; Beane-Freeman, Laura; Bracci, Paige M.; Buring, Julie; Duell, Eric J.; Gallinger, Steven; Giles, Graham G.; Goodman, Gary E.; Goodman, Phyllis J.; Kamineni, Aruna; Kolonel, Laurence N.; Kulke, Matthew H.; Malats, Núria; Olson, Sara H.; Sesso, Howard D.; Visvanathan, Kala; White, Emily; Zheng, Wei; Abnet, Christian C.; Albanes, Demetrius; Andreotti, Gabriella; Brais, Lauren; Bueno-de-Mesquita, H. Bas; Basso, Daniela; Berndt, Sonja I.; Boutron-Ruault, Marie-Christine; Bijlsma, Maarten F.; Brenner, Hermann; Burdette, Laurie; Campa, Daniele; Caporaso, Neil E.; Capurso, Gabriele; Cavestro, Giulia Martina; Cotterchio, Michelle; Costello, Eithne; Elena, Joanne; Boggi, Ugo; Gaziano, J. Michael; Gazouli, Maria; Giovannucci, Edward L.; Goggins, Michael; Gross, Myron; Haiman, Christopher A.; Hassan, Manal; Helzlsouer, Kathy J.; Hu, Nan; Hunter, David J.; Iskierka-Jazdzewska, Elzbieta; Jenab, Mazda; Kaaks, Rudolf; Key, Timothy J.; Khaw, Kay-Tee; Klein, Eric A.; Kogevinas, Manolis; Krogh, Vittorio; Kupcinskas, Juozas; Kurtz, Robert C.; Landi, Maria T.; Landi, Stefano; Marchand, Le Loic; Mambrini, Andrea; Mannisto, Satu; Milne, Roger L.; Neale, Rachel E.; Oberg, Ann L.; Panico, Salvatore; Patel, Alpa V.; Peeters, Petra H. M.; Peters, Ulrike; Pezzilli, Raffaele; Porta, Miquel; Purdue, Mark; Quiros, J. Ramón; Riboli, Elio; Rothman, Nathaniel; Scarpa, Aldo; Scelo, Ghislaine; Shu, Xiao-Ou; Silverman, Debra T.; Soucek, Pavel; Strobel, Oliver; Sund, Malin; Małecka-Panas, Ewa; Taylor, Philip R.; Tavano, Francesca; Travis, Ruth C.; Thornquist, Mark; Tjønneland, Anne; Tobias, Geoffrey S.; Trichopoulos, Dimitrios; Vashist, Yogesh; Vodicka, Pavel; Wactawski-Wende, Jean; Wentzensen, Nicolas; Yu, Herbert; Yu, Kai; Zeleniuch-Jacquotte, Anne; Kooperberg, Charles; Risch, Harvey A.; Jacobs, Eric J.; Li, Donghui; Fuchs, Charles; Hoover, Robert; Hartge, Patricia; Chanock, Stephen J.; Petersen, Gloria M.; Stolzenberg-Solomon, Rachael S.; Wolpin, Brian M.; Kraft, Peter; Klein, Alison P.; Canzian, Federico; Amundadottir, Laufey T.

2016-01-01

Genome-wide association studies (GWAS) have identified common pancreatic cancer susceptibility variants at 13 chromosomal loci in individuals of European descent. To identify new susceptibility variants, we performed imputation based on 1000 Genomes (1000G) Project data and association analysis using 5,107 case and 8,845 control subjects from 27 cohort and case-control studies that participated in the PanScan I-III GWAS. This analysis, in combination with a two-staged replication in an additional 6,076 case and 7,555 control subjects from the PANcreatic Disease ReseArch (PANDoRA) and Pancreatic Cancer Case-Control (PanC4) Consortia uncovered 3 new pancreatic cancer risk signals marked by single nucleotide polymorphisms (SNPs) rs2816938 at chromosome 1q32.1 (per allele odds ratio (OR) = 1.20, P = 4.88×10−15), rs10094872 at 8q24.21 (OR = 1.15, P = 3.22×10−9) and rs35226131 at 5p15.33 (OR = 0.71, P = 1.70×10−8). These SNPs represent independent risk variants at previously identified pancreatic cancer risk loci on chr1q32.1 (NR5A2), chr8q24.21 (MYC) and chr5p15.33 (CLPTM1L-TERT) as per analyses conditioned on previously reported susceptibility variants. We assessed expression of candidate genes at the three risk loci in histologically normal (n = 10) and tumor (n = 8) derived pancreatic tissue samples and observed a marked reduction of NR5A2 expression (chr1q32.1) in the tumors (fold change -7.6, P = 5.7×10−8). This finding was validated in a second set of paired (n = 20) histologically normal and tumor derived pancreatic tissue samples (average fold change for three NR5A2 isoforms -31.3 to -95.7, P = 7.5×10−4-2.0×10−3). Our study has identified new susceptibility variants independently conferring pancreatic cancer risk that merit functional follow-up to identify target genes and explain the underlying biology. PMID:27579533

The Main Properties of q-Functions

OpenAIRE

Nina O. Virchenko; Olena V. Ovcharenko

2017-01-01

Background.  The new generalization of the function of complex variable (q-function) is considered, its main properties are investigated. Such distributions have a special place among the special functions due to their widespread use in many areas of applied mathematics. Objective. The aim of the paper is to study the new generalization of the function of complex variable for application in applied sciences. Methods. To obtain scientific results the general methods of the mathematical a...

Q fever in Greenland

DEFF Research Database (Denmark)

Koch, Anders; Svendsen, Claus Bo; Christensen, Jens Jorgen

2010-01-01

We report a patient with Q fever endocarditis in a settlement in eastern Greenland (Isortoq, Ammassalik area). Likely animal sources include sled dogs and seals. Q fever may be underdiagnosed in Arctic areas but may also represent an emerging infection.......We report a patient with Q fever endocarditis in a settlement in eastern Greenland (Isortoq, Ammassalik area). Likely animal sources include sled dogs and seals. Q fever may be underdiagnosed in Arctic areas but may also represent an emerging infection....

Counting mycobacteria in infected human cells and mouse tissue: a comparison between qPCR and CFU.

Directory of Open Access Journals (Sweden)

Sharad Pathak

Full Text Available Due to the slow growth rate and pathogenicity of mycobacteria, enumeration by traditional reference methods like colony counting is notoriously time-consuming, inconvenient and biohazardous. Thus, novel methods that rapidly and reliably quantify mycobacteria are warranted in experimental models to facilitate basic research, development of vaccines and anti-mycobacterial drugs. In this study we have developed quantitative polymerase chain reaction (qPCR assays for simultaneous quantification of mycobacterial and host DNA in infected human macrophage cultures and in mouse tissues. The qPCR method cannot discriminate live from dead bacteria and found a 10- to 100-fold excess of mycobacterial genomes, relative to colony formation. However, good linear correlations were observed between viable colony counts and qPCR results from infected macrophage cultures (Pearson correlation coefficient [r] for M. tuberculosis = 0.82; M. a. avium = 0.95; M. a. paratuberculosis = 0.91. Regression models that predict colony counts from qPCR data in infected macrophages were validated empirically and showed a high degree of agreement with observed counts. Similar correlation results were also obtained in liver and spleen homogenates of M. a. avium infected mice, although the correlations were distinct for the early phase (< day 9 post-infection and later phase (≥ day 20 post-infection liver r = 0.94 and r = 0.91; spleen r = 0.91 and r = 0.87, respectively. Interestingly, in the mouse model the number of live bacteria as determined by colony counts constituted a much higher proportion of the total genomic qPCR count in the early phase (geometric mean ratio of 0.37 and 0.34 in spleen and liver, respectively, as compared to later phase of infection (geometric mean ratio of 0.01 in both spleen and liver. Overall, qPCR methods offer advantages in biosafety, time-saving, assay range and reproducibility compared to colony counting. Additionally, the duplex format allows

Formation of q bar q resonances in the bar NN system

International Nuclear Information System (INIS)

Ivanov, N.Ya.

1995-01-01

The formation of q bar q resonances lying on the leading Regge trajectories in the bar NN system is studied in the quark-gluon string model. The model predicts strong suppression of the decays of q bar q states into bar NN pairs in relation to two-meson modes. The author's analysis shows that the contributions of the resonances f 4 (2050) (I G J PC = 0 + 4 ++ ), ρ 5 (2240) (I G J PC = 1 + 5 -- ), and f 6 (2510) (I G J PC = 0 + 6 ++ ) to the processes of two-meson bar NN annihilation (bar pp → ππ, bar KK, hor-ellipsis) are about 1% of the corresponding experimental integrated cross sections. 30 refs., 2 figs., 1 tab

Numerical and Experimental Study of the Q Factor of High-Q Micropillar Cavities

DEFF Research Database (Denmark)

Gregersen, Niels; Reitzenstein, S.; Kistner, C.

2010-01-01

Micropillar cavities are potential candidates for high-efficiency single-photon sources and are testbeds for cavity quantum electrodynamics experiments. In both applications a high quality (Q) factor is desired. It was recently shown that the Q of high-Q semiconductor micropillar cavities exhibit...

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.

Mass spectra for q c q ¯ c ¯, s c s ¯ c ¯, q b q ¯ ¯, s b s ¯ ¯ tetraquark states with JP C=0++ and 2++

Science.gov (United States)

Chen, Wei; Chen, Hua-Xing; Liu, Xiang; Steele, T. G.; Zhu, Shi-Lin

2017-12-01

We have studied the mass spectra of the hidden-charm/bottom q c q ¯c ¯, s c s ¯c ¯ and q b q ¯b ¯, s b s ¯b ¯ tetraquark states with JP C=0++ and 2++ in the framework of QCD sum rules. We construct ten scalar and four tensor interpolating currents in a systematic way and calculate the mass spectra for these tetraquark states. The X*(3860 ) may be either an isoscalar tetraquark state or χc 0(2 P ). If the X*(3860 ) is a tetraquark candidate, our results prefer the 0++ option over the 2++ one. The X (4160 ) may be classified as either the scalar or tensor q c q ¯c ¯ tetraquark state, while the X (3915 ) favors a 0++ q c q ¯c ¯ or s c s ¯c ¯ tetraquark assignment over the tensor one. The X (4350 ) cannot be interpreted as a s c s ¯c ¯ tetraquark with either JP C=0++ or 2++.

On the Q2-dependence of quark and diquark fragmentation functions

International Nuclear Information System (INIS)

Bartl, A.

1988-01-01

The Q 2 -dependence of quark and diquark fragmentation functions is studied by means of evolution equations and compared with the experimental data. Some comments on the evolution of charm quark fragmentation are also presented. 20 refs., 4 figs. (Author)

q-Deformed Kink solutions

International Nuclear Information System (INIS)

Lima, A.F. de

2003-01-01

The q-deformed kink of the λφ 4 -model is obtained via the normalisable ground state eigenfunction of a fluctuation operator associated with the q-deformed hyperbolic functions. The kink mass, the bosonic zero-mode and the q-deformed potential in 1+1 dimensions are found. (author)

Molecular Cytogenetic Characterization Identified the Murine B-Cell Lymphoma Cell Line A-20 as a Model for Sporadic Burkitt's Lymphoma.

Science.gov (United States)

Guja, Karolina; Liehr, Thomas; Rincic, Martina; Kosyakova, Nadezda; Hussein Azawi, Shaymaa S

2017-11-01

Here, we report the first molecular cytogenetic characterization of the BALB/cAnN mouse derived B-cell non-Hodgkin lymphoma (B-cell NHL) cell lines A-20. Even though previously used as a model for testing of, for example, dexametason, up to present, no data in the genetic properties of A-20 were available. The present study closed this gap and provides evidence that A-20 is a model for B-cell NHL subgroup sporadic Burkitt's lymphoma. C-myc oncogene is involved in a translocation and copy number alterations as gain of murine 14q material could be observed. Interestingly, the cell line showed the karyotype 39,X,-X or -Y,t(2;15)(qE5;qD2),del(6)(qB3qC3),del(9)(qA3qA4),dup(14)(qE1qE4) in ~95% of the cells, being exceptionally stable for cell lines being established 38 years ago. Still, ~5% of the cells showed polyploidization followed by chromothripsis. It remains to be determined if this can be observed also in other cell lines, just has not been reported yet, and/or if it is a unique feature of A-20. Overall, finally here, the necessary genetic data to identify A-20 as a model for human sporadic Burkitt's lymphoma are provided.

Fully On-chip High Q Inductors Based on Microtechnologies

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Kriyang SHAH

2010-04-01

Full Text Available Wireless biosensor networks (WBSNs collect information about biological responses and process it using scattered battery-power sensor nodes. Such nodes demand ultra low-power consumption for longer operating time. Ultra Wide Band (UWB is a potential solution for WBSNs due to its advantage in low power consumption at reasonable data rate. However, such UBW technology requires high quality (Q factor passive components. This paper presents detailed analysis, design and optimization of physical parameters of silicon-on-sapphire (SOS and micro-electro-mechanical-systems (MEMS inductors for application in UWB transceivers. Results showed that the 1.5 nH SOS inductor achieved Q factor of 111 and MEMS inductor achieved Q factor of 45 at 4 GHz frequency. The voltage controlled oscillator (VCO designed with SOS inductor achieved more than 10 dBc/Hz reduction in phase noise and consumed half the power compared to VCO with MEMS inductor. Such low power VCO will improve battery life of a UWB wireless sensor node.

A Search for Centrally Produced non-$ q \\bar{q} $ Mesons in Proton Proton Interactions at 450~GeV/c using the CERN $\\Omega$ Spectrometer and GAMS-4000

CERN Multimedia

2002-01-01

% WA102 \\\\ \\\\ During the last decade evidence for non-$ q \\bar{q} $ mesons has grown due to experiments having high statistics in various decay modes. However there are still many channels which have promising signals but any definite conclusion is limited by the available statistics. In order to make a significant contribution to this field we propose to perform two 100~day runs combining the efficient multiphoton detection of GAMS-4000 with the good charged particle detection of the Omega Spectrometer to search for other non-$ q \\bar{q} $ mesons in the reaction $ pp \\rightarrow p _{f} X ^{o} p _{s} $ at 450~GeV/c. Although many final states will be studied those decaying to $ \\eta \\eta, \\eta \\eta ^\\prime $ and $ \\eta ^\\prime \\eta ^\\prime $ are of particular interest and the statistics in these channels will be greatly enhanced. This study will act as an important input in helping to understand non-perturbative QCD.

q-fractional calculus and equations

CERN Document Server

Annaby, Mahmoud H

2012-01-01

This nine-chapter monograph introduces a rigorous investigation of q-difference operators in standard and fractional settings. It starts with elementary calculus of q-differences and integration of Jackson’s type before turning to q-difference equations. The existence and uniqueness theorems are derived using successive approximations, leading to systems of equations with retarded arguments. Regular  q-Sturm–Liouville theory is also introduced; Green’s function is constructed and the eigenfunction expansion theorem is given. The monograph also discusses some integral equations of Volterra and Abel type, as introductory material for the study of fractional q-calculi. Hence fractional q-calculi of the types Riemann–Liouville; Grünwald–Letnikov;  Caputo;  Erdélyi–Kober and Weyl are defined analytically. Fractional q-Leibniz rules with applications  in q-series are  also obtained with rigorous proofs of the formal  results of  Al-Salam-Verma, which remained unproved for decades. In working ...

A characterization of the desarguesian planes of order q2 by SL(2,q

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D. A. Foulser

1983-01-01

Full Text Available The main result is that if the translation complement of a translation plane of order q2 contains a group isomorphic to SL(2,q and if the subgroups of order q are elations (shears, then the plane is Desarguesian. This generalizes earlier work of Walker, who assumed that the kernel of the plane contained GF(q.

22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.

Science.gov (United States)

Wither, Robert G; Borlot, Felippe; MacDonald, Alex; Butcher, Nancy J; Chow, Eva W C; Bassett, Anne S; Andrade, Danielle M

2017-06-01

Previous studies examining seizures in patients with 22q11.2 deletion syndrome (22q11.2DS) have focused primarily on children and adolescents. In this study we investigated the prevalence and characteristics of seizures and epilepsy in an adult 22q11.2DS population. The medical records of 202 adult patients with 22q11.2DS were retrospectively reviewed for documentation of seizures, electroencephalography (EEG) reports, and magnetic resonance imaging (MRI) findings. Epilepsy status was assigned in accordance with 2010 International League Against Epilepsy Classification. Of 202 patients, 32 (15.8%) had a documented history of seizure. Of these 32, 23 (71.8%) had acute symptomatic seizures, usually associated with hypocalcemia and/or antipsychotic or antidepressant use. Nine patients (9/32, 28%; 9/202, 4%) met diagnostic criteria for epilepsy. Two patients had genetic generalized epilepsy; two patients had focal seizures of unknown etiology; two had epilepsy due to malformations of cortical development; in two the epilepsy was due to acquired structural changes; and in one patient the epilepsy could not be further classified. Similarly to children, the prevalence of epilepsy and acute symptomatic seizures in adults with 22q11.2DS is higher than in the general population. Hypocalcemia continues to be a risk factor for adults, but differently from kids, the main cause of seizures in adults with 22q11.2DS is exposure to antipsychotics and antidepressants. Further prospective studies are warranted to investigate how 22q11.2 microdeletion leads to an overall decreased seizure threshold. Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.

Cold-Induced Ascites in Broilers: Effects of Vitamin C and Coenzyme Q10

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MH Nemati

Full Text Available ABSTRACT We hypothesized that the supplementation of vitamin C (Vit. C and coenzyme Q10 (CoQ10 alone or in combination could reduce the negative effects of cold stress in broilers. Four hundred male chicks were exposed for 24 h to cold stress (15 ºC starting from 15d of age, while a positive control group (PC, 100 birds was kept under normal temperature condition. The experimental groups under cold stress (four treatments in 5 replicates of 20 birds were: negative control (NC, basal diet, Vit. C (basal diet + 300 mg/kg Vit. C, CoQ10 (basal diet + 40 mg/kg CoQ10 and Vit. C plus CoQ10 (basal diet + Vit. C+ CoQ10at above mentioned doses. Vit. C or CoQ10 supplementation were restored (p<0.01 performance and lowered (p<0.01 ascites mortality. Blood hematocrit and hemoglobin concentration were decreased (p<0.01 to the level comparable to PC by Vit. C supplementation. Lower plasma concentrations of thyroxin (T4 and higher triiodothyronine (T3 were observed in NC birds (p<0.01 and were not affected by Vit. C or CoQ10. In conclusion, supplementation of Vit. C or CoQ10 in diet of broilers under cold stress conditions resulted improved performance parameters (body weight and feed conversion ratio and ascites related traits (low red blood cell count, hematocrit, T3, and heart weights and high T4. No additional benefit was observed by combination of Vit. C and CoQ10.

A generalization of the deformed algebra of quantum group SU(2)q for Hopf algebra

International Nuclear Information System (INIS)

Ludu, A.; Gupta, R.K.

1992-12-01

A generalization of the deformation of Lie algebra of SU(2) group is established for the Hopf algebra, by modifying the J 3 component in all of its defining commutators. The modification is carried out in terms of a polynomial f, of J 3 and the q-deformation parameter, which contains the known q-deformation functionals as its particular cases. (author). 20 refs

Deuteron A(Q2) structure function and the neutron electric form factor

International Nuclear Information System (INIS)

Platchkov, S.; Amroun, A.; Auffret, S.; Cavedon, J.M.; Dreux, P.; Duclos, J.; Frois, B.; Goutte, D.; Hachemi, H.; Martino, J.

1989-01-01

We present new measurements of the deuteron A(Q 2 ) structure function in the momentum transfer region between 1 and 18 fm -2 . The accuracy of the data ranges from 2% to 6%. We investigate the sensitivity of A(Q 2 ) to the nucleon-nucleon interaction and to the neutron electric form factor G E n . Our analysis shows that below 20 fm -2 G E n can be inferred from these data with a significantly improved accuracy. The model dependence of this analysis is discussed

I-Love-Q to the extreme

Science.gov (United States)

Silva, Hector O.; Yunes, Nicolás

2018-01-01

Certain bulk properties of neutron stars, in particular their moment of inertia, rotational quadrupole moment and tidal Love number, when properly normalized, are related to one another in a nearly equation of state independent way. The goal of this paper is to test these relations with extreme equations of state at supranuclear densities constrained to satisfy only a handful of generic, physically sensible conditions. By requiring that the equation of state be (i) barotropic and (ii) its associated speed of sound be real, we construct a piecewise function that matches a tabulated equation of state at low densities, while matching a stiff equation of state parametrized by its sound speed in the high-density region. We show that the I-Love-Q relations hold to 1 percent with this class of equations of state, even in the extreme case where the speed of sound becomes superluminal and independently of the transition density. We also find further support for the interpretation of the I-Love-Q relations as an emergent symmetry due to the nearly constant eccentricity of isodensity contours inside the star. These results reinforce the robustness of the I-Love-Q relations against our current incomplete picture of physics at supranuclear densities, while strengthening our confidence in the applicability of these relations in neutron star astrophysics.

The Escherichia coli COG1738 Member YhhQ Is Involved in 7-Cyanodeazaguanine (preQ0 Transport

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Rémi Zallot

2017-02-01

Full Text Available Queuosine (Q is a complex modification of the wobble base in tRNAs with GUN anticodons. The full Q biosynthesis pathway has been elucidated in Escherichia coli. FolE, QueD, QueE and QueC are involved in the conversion of guanosine triphosphate (GTP to 7-cyano-7-deazaguanine (preQ0, an intermediate of increasing interest for its central role in tRNA and DNA modification and secondary metabolism. QueF then reduces preQ0 to 7-aminomethyl-7-deazaguanine (preQ1. PreQ1 is inserted into tRNAs by tRNA guanine(34 transglycosylase (TGT. The inserted base preQ1 is finally matured to Q by two additional steps involving QueA and QueG or QueH. Most Eubacteria harbor the full set of Q synthesis genes and are predicted to synthesize Q de novo. However, some bacteria only encode enzymes involved in the second half of the pathway downstream of preQ0 synthesis, including the signature enzyme TGT. Different patterns of distribution of the queF, tgt, queA and queG or queH genes are observed, suggesting preQ0, preQ1 or even the queuine base being salvaged in specific organisms. Such salvage pathways require the existence of specific 7-deazapurine transporters that have yet to be identified. The COG1738 family was identified as a candidate for a missing preQ0/preQ1 transporter in prokaryotes, by comparative genomics analyses. The existence of Q precursor salvage was confirmed for the first time in bacteria, in vivo, through an indirect assay. The involvement of the COG1738 in salvage of a Q precursor was experimentally validated in Escherichia coli, where it was shown that the COG1738 family member YhhQ is essential for preQ0 transport.

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

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Adrian Mc Cormack

2014-01-01

Full Text Available Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses the CRHR1, MAPT, and KANSL1 genes, as well as a microdeletion in chromosome 7q31.33 that is localised within the GRM8 gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.

Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome

NARCIS (Netherlands)

Bassett, Anne S.; Lowther, Chelsea; Merico, Daniele; Costain, Gregory; Chow, Eva W C; Van Amelsvoort, Therese; McDonald-Mcginn, Donna M.; Gur, Raquel E.; Swillen, Ann; van den Bree, Marianne B M; Murphy, Kieran C.; Gothelf, Doron; Bearden, Carrie E.; Eliez, Stephan; Kates, Wendy R.; Philip, Nicole; Sashi, Vandana; Campbell, Linda E.; Vorstman, Jacob; Cubells, Joseph; Repetto, Gabriela M.; Simon, Tony J.; Boot, Erik; Heung, Tracy; Evers, Rens; Vingerhoets, Claudia; Van Duin, Esther; Zackai, Elaine; Vergaelen, Elfi; Devriendt, Koen; Vermeesch, Joris R.; Owen, Michael J; Murphy, Clodagh M.; Michaelovosky, Elena; Kushan, Leila; Schneider, Maude; Fremont, Wanda; Busa, Tiffany; Hooper, Stephen R.; McCabe, Kathryn; Duijff, Sasja; Isaev, Karin; Pellecchia, Giovanna; Wei, John; Gazzellone, Matthew J.; Scherer, Stephen W.; Emanuel, Beverly S.; Guo, Tingwei; Morrow, Bernice E.; Marshall, Christian R.

2017-01-01

Objective: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this studywas to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression. Method: Through an

q-Power function over q-commuting variables and deformed XXX, XXZ chains

International Nuclear Information System (INIS)

Khoroshkin, S.M.; Stolin, A.A.; Tolstoy, V.N.

2001-01-01

Certain functional identifies for the Gauss q-power function of a sum of q-commuting variables are found. Then these identifies are used to obtain two-parameter twists of the quantum affine algebra U q (sl 2 ) and of the Yangian Y(sl 2 ). The corresponding deformed trigonometric and rational quantum R matrices, which then are used in the computation of deformed XXX and XXZ Hamiltonians [ru

Q-profiles in JET

International Nuclear Information System (INIS)

Gill, R.D.; Edwards, A.W.; Keegan, B.; Lazzaro, E.; O'Rourke, J.; Weller, A.; Zasche, D.

1989-01-01

Tokamak q-profiles play a central role in the determination of plasma stability and q(r) towards the plasma centre is particularly important for the sawtooth instability. On JET, q(r) has been determined from magnetic measurements and Faraday rotation. Further information about the position of the q=1 surface has been found from the sawtooth inversion radius, the position of the snake and the resonance effect observed on visible light and X-ray emission during pellet injection. In addition the shear at the q=1 surface has been measured from pellet ablation. This result is supported by the movement of the snake caused by a sawtooth crash. A summary of these data will be made after presenting the new results from pellet ablation. (author) 5 refs., 8 figs

Exploration of extremely low q_e_d_g_e regime in KSTAR

International Nuclear Information System (INIS)

Kim, Jayhyun; In, Y.; Park, B.H.; Aydemir, A.

2015-01-01

The q_e_d_g_e < 2 regime had long been regarded as an experimentally forbidden regime due to magneto-hydrodynamic instabilities. However, RFX-MOD experiment demonstrated that the control of error field could enable the entrance and sustainment of the discharge even in the forbidden regime. We explored q_e_d_g_e < 2 regime in Korea superconducting tokamak advanced research (KSTAR) without any feedback or feedforward control of error field since the intrinsic level of error field in KSTAR is inherently comparable to the controlled level of other device. The discharge sustained at q_9_5 ∼ 1.9 for 800 ms that is at least one order of magnitude longer than the resistive wall time of the device. Furthermore, simulated error field applied by field error correction coils prevented the passage of q_e_d_g_e = 3 integer rational surface before reaching q_e_d_g_e = 2. The detailed analysis is on-going for revealing the role of error field in the excitation of limiting instability. (author)

Photoinduced transport in an H64Q neuroglobin antidote for carbon monoxide poisoning

Science.gov (United States)

Rydzewski, J.; Nowak, W.

2018-03-01

Carbon monoxide (CO) is a leading cause of poisoning deaths worldwide, without available antidotal therapy. Recently, a potential treatment for CO poisoning was introduced, based on binding of CO by neuroglobin (Ngb) with a mutated distal histidine (H64Q). Here, we present an atomistic mechanism of CO trapping by H64Q Ngb revealed by nonadiabatic molecular dynamics. We focused on CO photodissociation and recombination of CO to wild type (WT) and H64Q Ngb. Our results demonstrate that the distribution of CO within the proteins differs substantially due to rearrangement of amino acids surrounding the distal heme pocket. This leads to the decrease of the distal pocket volume in H64Q Ngb in comparison to WT Ngb, trapping migrating CO molecules in the distal pocket. We show that the mutation implicates the shortening of the time scale of CO geminate recombination, making H64Q Ngb 2.7 times more frequent binder than WT Ngb.

Compact Q-balls

Energy Technology Data Exchange (ETDEWEB)

Bazeia, D., E-mail: bazeia@fisica.ufpb.br [Departamento de Física, Universidade Federal da Paraíba, 58051-970 João Pessoa, PB (Brazil); Losano, L.; Marques, M.A. [Departamento de Física, Universidade Federal da Paraíba, 58051-970 João Pessoa, PB (Brazil); Menezes, R. [Departamento de Ciências Exatas, Universidade Federal da Paraíba, 58297-000 Rio Tinto, PB (Brazil); Departamento de Física, Universidade Federal de Campina Grande, 58109-970 Campina Grande, PB (Brazil); Rocha, R. da [Centro de Matemática, Computação e Cognição, Universidade Federal do ABC, 09210-580 Santo André (Brazil)

2016-07-10

In this work we deal with non-topological solutions of the Q-ball type in two space–time dimensions, in models described by a single complex scalar field that engenders global symmetry. The main novelty is the presence of stable Q-balls solutions that live in a compact interval of the real line and appear from a family of models controlled by two distinct parameters. We find analytical solutions and study their charge and energy, and show how to control the parameters to make the Q-balls classically and quantum mechanically stable.

Die soeke na die betekenis van Q: Inleidende opmerkings oor die geskiedenis van Q-navorsing

Directory of Open Access Journals (Sweden)

Gerhard Nel

2003-10-01

According to the two source-theory, large parts of the material in Matthew and Luke which show conformity and which are not found in Mark, point to the existence of a source which comprises sayings of Jesus and reminds one of the typical wisdom material in the Old Testament. In this paper a few introductory remarks are made on the history of the research done in respect of this source, known as Q. The questions regarding the actual existence and origin of Q are briefly discussed in the first part of the paper. Four aspects of Q research are addressed: Q is a document which shows its own integrity; the distinction between tradition and redaction in Q; stratifications and phases in the development of Q; the wisdom character of the material in Q.

Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.

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Chantal Sellier

Full Text Available Deletion of the 1.5-3 Mb region of chromosome 22 at locus 11.2 gives rise to the chromosome 22q11.2 deletion syndrome (22q11DS, also known as DiGeorge and Velocardiofacial Syndromes. It is the most common micro-deletion disorder in humans and one of the most common multiple malformation syndromes. The syndrome is characterized by a broad phenotype, whose characterization has expanded considerably within the last decade and includes many associated findings such as craniofacial anomalies (40%, conotruncal defects of the heart (CHD; 70-80%, hypocalcemia (20-60%, and a range of neurocognitive anomalies with high risk of schizophrenia, all with a broad phenotypic variability. These phenotypic features are believed to be the result of a change in the copy number or dosage of the genes located in the deleted region. Despite this relatively clear genetic etiology, very little is known about which genes modulate phenotypic variations in humans or if they are due to combinatorial effects of reduced dosage of multiple genes acting in concert. Here, we report on decreased expression levels of genes within the deletion region of chromosome 22, including DGCR8, in peripheral leukocytes derived from individuals with 22q11DS compared to healthy controls. Furthermore, we found dysregulated miRNA expression in individuals with 22q11DS, including miR-150, miR-194 and miR-185. We postulate this to be related to DGCR8 haploinsufficiency as DGCR8 regulates miRNA biogenesis. Importantly we demonstrate that the level of some miRNAs correlates with brain measures, CHD and thyroid abnormalities, suggesting that the dysregulated miRNAs may contribute to these phenotypes and/or represent relevant blood biomarkers of the disease in individuals with 22q11DS.

Molecular analysis of Hb Q-H disease and Hb Q-Hb E in a Singaporean family.

Science.gov (United States)

Tan, J; Tay, J S; Wong, Y C; Kham, S K; Bte Abd Aziz, N; Teo, S H; Wong, H B

1995-01-01

Hb Q (alpha 74Asp-His) results from a mutation in the alpha-gene such that abnormal alpha Q-chains are synthesized. The alpha Q-chains combine with the normal Beta A-chains to form abnormal Hb alpha 2Q beta 2A (Hb Q). Hb Q-H disease is rare, and has been reported only in the Chinese. We report here a Chinese family, were the mother diagnosed with Hb Q-H disease and the father with Hb E heterozygosity and a child with Hb Q-E-thalassemia. Thalassemia screening of the mother's blood revealed a Hb level of 6.8g/dl with low MCV and MCH. Her blood film was indicative of thalassemia. Cellulose acetate electrophoresis showed Hb H and Hb Q with the absence of Hb A. Globin chain biosynthesis was carried out and alpha Q- and beta-chains were detected. Normal alpha- chains were absent. Digestion of the mother's DNA with Bam HI and Bgl II followed by hybridization with the 1.5 kb alpha-Pst probe showed a two alpha-gene deletion on one chromosome and the -alpha Q chain mutant with the -alpha 4.2 defect on the other chromosome. DNA amplification studies indicated the two-gene deletion to be of the -SEA/ defect. The patient was concluded to possess Hb Q-H disease (--SEA/-alpha 4.2Q). Cellulose acetate electrophoresis of the father's blood showed the presence of Hb A, F and E. Molecular analysis of the father's DNA confirmed an intact set of alpha-genes (alpha alpha/alpha alpha). Globin chain biosynthesis of fetal blood of their child showed gamma, beta A, beta E, alpha A and alpha Q-chains. Molecular analysis of the child's DNA showed one alpha-gene deletion, thus giving a genotype of alpha alpha/-alpha 4.2Q beta beta E.

Coenzyme Q10 production in plants: current status and future prospects.

Science.gov (United States)

Parmar, Sanjay Singh; Jaiwal, Anjali; Dhankher, Om Parkash; Jaiwal, Pawan K

2015-06-01

Coenzyme Q10 (CoQ10) or Ubiquinone10 (UQ10), an isoprenylated benzoquinone, is well-known for its role as an electron carrier in aerobic respiration. It is a sole representative of lipid soluble antioxidant that is synthesized in our body. In recent years, it has been found to be associated with a range of patho-physiological conditions and its oral administration has also reported to be of therapeutic value in a wide spectrum of chronic diseases. Additionally, as an antioxidant, it has been widely used as an ingredient in dietary supplements, neutraceuticals, and functional foods as well as in anti-aging creams. Since its limited dietary uptake and decrease in its endogenous synthesis in the body with age and under various diseases states warrants its adequate supply from an external source. To meet its growing demand for pharmaceutical, cosmetic and food industries, there is a great interest in the commercial production of CoQ10. Various synthetic and fermentation of microbial natural producers and their mutated strains have been developed for its commercial production. Although, microbial production is the major industrial source of CoQ10 but due to low yield and high production cost, other cost-effective and alternative sources need to be explored. Plants, being photosynthetic, producing high biomass and the engineering of pathways for producing CoQ10 directly in food crops will eliminate the additional step for purification and thus could be used as an ideal and cost-effective alternative to chemical synthesis and microbial production of CoQ10. A better understanding of CoQ10 biosynthetic enzymes and their regulation in model systems like E. coli and yeast has led to the use of metabolic engineering to enhance CoQ10 production not only in microbes but also in plants. The plant-based CoQ10 production has emerged as a cost-effective and environment-friendly approach capable of supplying CoQ10 in ample amounts. The current strategies, progress and constraints of

Investigations on a Q0 Doublet Optics for the LHC Luminosity Upgrade

CERN Document Server

Laface, E; Scandale, Walter; Wildner, E

2008-01-01

The Q0 scheme of the LHC insertion region is based on the introduction of a doublet of quadrupoles at 13 m from the IP. We present here the doublet optics and the magnets layout such as gradients, lengths, positions and apertures. In this scheme we show the gain in luminosity and chromaticity, with respect to a nominal layout with $\\beta^{*}$ = 0.25 m (i.e. LHC phase 1 upgrade) and $\\beta^{*} = 0.15 m, due to a smaller beta-max. We show the alignment tolerance and the energy deposition issues, in Q0A-Q0B. We also consider shielding the magnets with liners. The capability of Q0 optics to limit the b function could be exploited after the LHC Phase 1 upgrade in order to reduce the $\\beta^{*}$ below 0.25 m, leaving the upgraded triplet unchanged

High-Q plasmonic bottle microresonator

Science.gov (United States)

Mohd Nasir, M. Narizee; Ding, Ming; Murugan, G. Senthil; Zervas, Michalis N.

2014-03-01

In this paper, we demonstrate a hybrid plasmonic bottle microresonator (PBMR) which supports whispering gallery modes (WGMs) along with surface plasmon waves (SPWs) for high performance optical sensor applications. The BMR was fabricated through "soften-and-compress" technique with a thin gold layer deposited on top of the resonator. A polarization-resolved measurement was set-up in order to fully characterize the fabricated PBMR. Initially, the uncoated BMR with waist diameter of 181 μm, stem diameter of 125 μm and length of 400 μm was fabricated and then gold film was deposited on the surface. Due to surface curvature, the gold film covering half of the BMR had a characteristic meniscus shape and maximum thickness of 30 nm. The meniscus provides appropriately tapered edges which facilitate the adiabatic transformation of BMR WGMs to SPWs and vice versa. This results in low transition losses, which combined with partially-metal-coated resonator, can result in high hybrid-PBMR Q's. The transmission spectra of the hybrid PBMR are dramatically different to the original uncoated BMR. Under TE(TM) excitation, the PBMR showed composite resonances with Q of ~2100(850) and almost identical ~ 3 nm FSR. We have accurately fitted the observed transmission resonances with Lorentzian-shaped curves and showed that the TE and TM excitations are actually composite resonances comprise of two and three partially overlapping resonances with Q's in excess of 2900 and 2500, respectively. To the best of our knowledge these are the highest Qs observed in plasmonic microcavities.

Multitasking Abilities in Adolescents With 22q11.2 Deletion Syndrome: Results From an Experimental Ecological Paradigm.

Science.gov (United States)

Schneider, Maude; Eliez, Stephan; Birr, Julie; Menghetti, Sarah; Debbané, Martin; Van der Linden, Martial

2016-03-01

The 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive and functional impairments and increased risk for schizophrenia. We characterized multitasking abilities of adolescents with 22q11.2DS using an experimental naturalistic setting and examined whether multitasking impairments were associated with real-world functioning and negative symptoms. Thirty-nine adolescents (19 with 22q11.2DS and 20 controls) underwent the Multitasking Evaluation for Adolescents. Real-world functioning and clinical symptoms were assessed in participants with 22q11.2DS. Adolescents with 22q11.2DS performed poorly in the multitasking evaluation. Our data also suggest that multitasking abilities are related to adaptive functioning in the practical domain and negative symptoms. This study shows that adolescents with 22q11.2DS are characterized by multitasking impairments, which may be relevant for several aspects of the clinical phenotype.

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

q-deformed Minkowski space

International Nuclear Information System (INIS)

Ogievetsky, O.; Pillin, M.; Schmidke, W.B.; Wess, J.; Zumino, B.

1993-01-01

In this lecture I discuss the algebraic structure of a q-deformed four-vector space. It serves as a good example of quantizing Minkowski space. To give a physical interpretation of such a quantized Minkowski space we construct the Hilbert space representation and find that the relevant time and space operators have a discrete spectrum. Thus the q-deformed Minkowski space has a lattice structure. Nevertheless this lattice structure is compatible with the operation of q-deformed Lorentz transformations. The generators of the q-deformed Lorentz group can be represented as linear operators in the same Hilbert space. (orig.)

Q2 anti Q2 states with relatively narrow widths

International Nuclear Information System (INIS)

Ono, Seiji.

1978-09-01

Using the mass formulas which correctly predict the mass of mesons and baryons the mass of diquark states is computed. From this mass spectrum the existance of the observed narrow baryonia and wide baryonia can be naturally understood. Other relatively narrow Q 2 anti Q 2 states are predicted to exist. (orig.) [de

9q22 Deletion - First Familial Case

Directory of Open Access Journals (Sweden)

Yamamoto Toshiyuki

2011-06-01

Full Text Available Abstract Background Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400 due to haploinsufficiency of the PTCH1 gene (MIM *601309. Methods and Results We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, detected by array CGH (244 K. The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337 which causing both brachydactyly type 1 (MIM #113000 and Robinow syndrome (MIM #268310, and the immunologically active SYK gene (MIM *600085. The deletion in the father was de novo and FISH analysis of blood lymphocytes did not suggest mosaicism. All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails. All have significant dysarthria and suffer from continuous middle ear and upper respiratory infections. The father also has a funnel chest and unilateral hypoplastic kidney but the daughters have no malformations. Conclusions This is the first report of a familial constitutional 9q22 deletion and the first deletion studied by array-CGH which does not involve the PTCH1 gene. The phenotype and penetrance are variable and the deletion found in the cognitively normal normal father poses a challenge in genetic counseling.

Analytic derivation of the leading-order gluon distribution function G(x,Q2)=xg(x,Q2) from the proton structure function F2p(x,Q2)

International Nuclear Information System (INIS)

Block, Martin M.; Durand, Loyal; McKay, Douglas W.

2008-01-01

We derive a second-order linear differential equation for the leading-order gluon distribution function G(x,Q 2 )=xg(x,Q 2 ) which determines G(x,Q 2 ) directly from the proton structure function F 2 p (x,Q 2 ). This equation is derived from the leading-order evolution equation for F 2 p (x,Q 2 ), and does not require knowledge of either the individual quark distributions or the gluon evolution equation. Given an analytic expression that successfully reproduces the known experimental data for F 2 p (x,Q 2 ) in a domain x min (Q 2 )≤x≤x max (Q 2 ), Q min 2 ≤Q 2 ≤Q max 2 of the Bjorken variable x and the virtuality Q 2 in deep inelastic scattering, G(x,Q 2 ) is uniquely determined in the same domain. We give the general solution and illustrate the method using the recently proposed Froissart-bound-type parametrization of F 2 p (x,Q 2 ) of E. L. Berger, M. M. Block and C.-I. Tan [Phys. Rev. Lett. 98, 242001 (2007)]. Existing leading-order gluon distributions based on power-law descriptions of individual parton distributions agree roughly with the new distributions for x > or approx. 10 -3 as they should, but are much larger for x -3 .

A first case of primary amenorrhea with i(X(qter---q10::---qter, rob(13;14(q10;q10, inv(9(p13q33 karyotype

Directory of Open Access Journals (Sweden)

Seema Korgaonkar

2011-01-01

Full Text Available Primary amenorrhea (PA refers to the absence of menarche by the age of 16-18 years although secondary sexual characters are developed. PA occurs in 1-3% of women in the reproductive age group. Various factors such as anatomical, genetic and hormonal factors reported to influence PA. We report triple chromosomal abnormalities of rob(13;14(q10;q10,inv(9(p13q33, i(Xq(qter---q10::---qter in a case of PA and short stature. Though proband has multiple chromosome aberrations, genotypic effect of only i(Xq is evident as proband has PA and short stature. The rob(13;14 and inv(9, which are paternally derived may have role in later reproductive age. Therefore, chromosomal analysis is essential in such cases for the accurate diagnosis and management of the disease.

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

Science.gov (United States)

Dworschak, G C; Crétolle, C; Hilger, A; Engels, H; Korsch, E; Reutter, H; Ludwig, M

2017-05-01

Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the literature on dup(3q). This search revealed several patients with caudal malformations and anomalies, suggesting that caudal malformations or anomalies represent an inherent phenotypic feature of dup(3q). In this context, we report a patient with a pure de novo duplication 3q26.32-q27.2. The patient had the clinical diagnosis of Currarino syndrome (CS) (characterized by the triad of sacral anomalies, anorectal malformations and a presacral mass) and additional features, frequently detected in patients with a dup(3q). Mutations within the MNX1 gene were found to be causative in CS but no MNX1 mutation could be detected in our patient. Our comprehensive search for candidate genes located in the critical region of the duplication 3q syndrome, 3q26.3-q27, revealed a so far neglected phenotypic overlap of dup(3q) and the Pierpont syndrome, associated with a mutation of the TBL1XR1 gene on 3q26.32. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Double-hit lymphoma demonstrating t(6;14;18)(p25;q32;q21), suggesting two independent dual-hit translocations, MYC/BCL-2 and IRF4/BCL-2.

Science.gov (United States)

Tabata, Rie; Yasumizu, Ryoji; Tabata, Chiharu; Kojima, Masaru

2013-01-01

Here, we report a rare case of double-hit lymphoma, demonstrating t(6;14;18)(p25;q32;q21), suggesting two independent dual-translocations, c-MYC/BCL-2 and IRF4/BCL-2. The present case had a rare abnormal chromosome, t(6;14;18)(p25;q32;q21), independently, in addition to known dual-hit chromosomal abnormalities, t(14;18)(q32;q21) and t(8;22)(q24;q11.2). Lymph node was characterized by a follicular and diffuse growth pattern with variously sized neoplastic follicles. The intrafollicular area was composed of centrocytes with a few centroblasts and the interfollicular area was occupied by uniformly spread medium- to large-sized lymphocytes. CD23 immunostaining demonstrated a disrupted follicular dendritic cell meshwork. The intrafollicular tumor cells had a germinal center phenotype with the expression of surface IgM, CD10, Bcl-2, Bcl-6, and MUM1/IRF4. However, the interfollicular larger cells showed plasmacytic differentiation with diminished CD20, Bcl-2, Bcl-6, and positive intracytoplasmic IgM, and co-expression of MUM1/IRF4 and CD138 with increased Ki-67-positive cells (> 90%). MUM1/IRF4 has been found to induce c-MYC expression, and in turn, MYC transactivates MUM1/IRF4, creating a positive autoregulatory feedback loop. On the other hand, MUM1/IRF4 functions as a tumor suppressor in c-MYC-induced B-cell leukemia. The present rare case arouses interest in view of the possible "dual" activation of both c-MYC and MUM1/IRF4 through two independent dual-translocations, c-MYC/BCL-2 and IRF4/BCL-2.

Linear q-nonuniform difference equations

International Nuclear Information System (INIS)

Bangerezako, Gaspard

2010-01-01

We introduce basic concepts of q-nonuniform differentiation and integration and study linear q-nonuniform difference equations and systems, as well as their application in q-nonuniform difference linear control systems. (author)

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Science.gov (United States)

Burkardt, Deepika D'Cunha; Rosenfeld, Jill A; Helgeson, Maria L; Angle, Brad; Banks, Valerie; Smith, Wendy E; Gripp, Karen W; Moline, Jessica; Moran, Rocio T; Niyazov, Dmitriy M; Stevens, Cathy A; Zackai, Elaine; Lebel, Robert Roger; Ashley, Douglas G; Kramer, Nancy; Lachman, Ralph S; Graham, John M

2011-06-01

Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recognizable 1q24q25 microdeletion syndrome: prenatal-onset microcephaly and proportionate growth deficiency, severe cognitive disability, small hands and feet with distinctive brachydactyly, single transverse palmar flexion creases, fifth finger clinodactyly and distinctive facial features: upper eyelid fullness, small ears, short nose with bulbous nasal tip, tented upper lip, and micrognathia. Radiographs demonstrate disharmonic osseous maturation with markedly delayed bone age. Occasional features include cleft lip and/or palate, cryptorchidism, brain and spinal cord defects, and seizures. Using oligonucleotide-based array comparative genomic hybridization, we defined the critical deletion region as 1.9 Mb at 1q24.3q25.1 (chr1: 170,135,865-172,099,327, hg18 coordinates), containing 13 genes and including CENPL, which encodes centromeric protein L, a protein essential for proper kinetochore function and mitotic progression. The growth deficiency in this syndrome is similar to what is seen in other types of primordial short stature with microcephaly, such as Majewski osteodysplastic primordial dwarfism, type II (MOPD2) and Seckel syndrome, which result from loss-of-function mutations in genes coding for centrosomal proteins. DNM3 is also in the deleted region and expressed in the brain, where it participates in the Shank-Homer complex and increases synaptic strength. Therefore, DNM3 is a candidate for the cognitive disability, and CENPL is a candidate for growth deficiency in this 1q24q25 microdeletion syndrome. Copyright © 2011 Wiley-Liss, Inc.

Chemistry and Molecular Dynamics Simulations of Heme b-HemQ and Coproheme-HemQ.

Science.gov (United States)

Hofbauer, Stefan; Dalla Sega, Marco; Scheiblbrandner, Stefan; Jandova, Zuzana; Schaffner, Irene; Mlynek, Georg; Djinović-Carugo, Kristina; Battistuzzi, Gianantonio; Furtmüller, Paul G; Oostenbrink, Chris; Obinger, Christian

2016-09-27

Recently, a novel pathway for heme b biosynthesis in Gram-positive bacteria has been proposed. The final poorly understood step is catalyzed by an enzyme called HemQ and includes two decarboxylation reactions leading from coproheme to heme b. Coproheme has been suggested to act as both substrate and redox active cofactor in this reaction. In the study presented here, we focus on HemQs from Listeria monocytogenes (LmHemQ) and Staphylococcus aureus (SaHemQ) recombinantly produced as apoproteins in Escherichia coli. We demonstrate the rapid and two-phase uptake of coproheme by both apo forms and the significant differences in thermal stability of the apo forms, coproheme-HemQ and heme b-HemQ. Reduction of ferric high-spin coproheme-HemQ to the ferrous form is shown to be enthalpically favored but entropically disfavored with standard reduction potentials of -205 ± 3 mV for LmHemQ and -207 ± 3 mV for SaHemQ versus the standard hydrogen electrode at pH 7.0. Redox thermodynamics suggests the presence of a pronounced H-bonding network and restricted solvent mobility in the heme cavity. Binding of cyanide to the sixth coproheme position is monophasic but relatively slow (∼1 × 10(4) M(-1) s(-1)). On the basis of the available structures of apo-HemQ and modeling of both loaded forms, molecular dynamics simulation allowed analysis of the interaction of coproheme and heme b with the protein as well as the role of the flexibility at the proximal heme cavity and the substrate access channel for coproheme binding and heme b release. Obtained data are discussed with respect to the proposed function of HemQ in monoderm bacteria.

Direct Comparison of 19F qNMR and 1H qNMR by Characterizing Atorvastatin Calcium Content

Directory of Open Access Journals (Sweden)

Yang Liu

2016-01-01

Full Text Available Quantitative nuclear magnetic resonance (qNMR is a powerful tool in measuring drug content because of its high speed, sensitivity, and precision. Most of the reports were based on proton qNMR (1H qNMR and only a few fluorine qNMR (19F qNMR were reported. No research has been conducted to directly compare the advantage and disadvantage between these two methods. In the present study, both 19F and 1H qNMR were performed to characterize the content of atorvastatin calcium with the same internal standard. Linearity, precision, and results from two methods were compared. Results showed that 19F qNMR has similar precision and sensitivity to 1H qNMR. Both methods generate similar results compared to mass balance method. Major advantage from 19F qNMR is that the analyte signal is with less or no interference from impurities. 19F qNMR is an excellent approach to quantify fluorine-containing analytes.

A super-spreading ewe infects hundreds with Q fever at a farmers' market in Germany

Directory of Open Access Journals (Sweden)

Wagner-Wiening Christiane

2006-10-01

Full Text Available Abstract Background In May 2003 the Soest County Health Department was informed of an unusually large number of patients hospitalized with atypical pneumonia. Methods In exploratory interviews patients mentioned having visited a farmers' market where a sheep had lambed. Serologic testing confirmed the diagnosis of Q fever. We asked local health departments in Germany to identiy notified Q fever patients who had visited the farmers market. To investigate risk factors for infection we conducted a case control study (cases were Q fever patients, controls were randomly selected Soest citizens and a cohort study among vendors at the market. The sheep exhibited at the market, the herd from which it originated as well as sheep from herds held in the vicinity of Soest were tested for Coxiella burnetii (C. burnetii. Results A total of 299 reported Q fever cases was linked to this outbreak. The mean incubation period was 21 days, with an interquartile range of 16–24 days. The case control study identified close proximity to and stopping for at least a few seconds at the sheep's pen as significant risk factors. Vendors within approximately 6 meters of the sheep's pen were at increased risk for disease compared to those located farther away. Wind played no significant role. The clinical attack rate of adults and children was estimated as 20% and 3%, respectively, 25% of cases were hospitalized. The ewe that had lambed as well as 25% of its herd tested positive for C. burnetii antibodies. Conclusion Due to its size and point source nature this outbreak permitted assessment of fundamental, but seldom studied epidemiological parameters. As a consequence of this outbreak, it was recommended that pregnant sheep not be displayed in public during the 3rd trimester and to test animals in petting zoos regularly for C. burnetii.

Q-bank phytoplasma database

DEFF Research Database (Denmark)

Contaldo, Nicoletta; Bertaccini, Assunta; Nicolaisen, Mogens

2014-01-01

The setting of the Q-Bank database free available on line for quarantine phytoplasma and also for general phytoplasma identification is described. The tool was developed in the frame of the EU-FP7 project Qbol and is linked with a new project Q-collect in order to made widely available the identi......The setting of the Q-Bank database free available on line for quarantine phytoplasma and also for general phytoplasma identification is described. The tool was developed in the frame of the EU-FP7 project Qbol and is linked with a new project Q-collect in order to made widely available...

Serodiagnosis of Borrelia miyamotoi disease by measuring antibodies against GlpQ and variable major proteins

DEFF Research Database (Denmark)

Koetsveld, J.; Kolyasnikova, N. M.; Wagemakers, A.

2018-01-01

previously shown the differential expression of antigenic variable major proteins (Vmps) in B. miyamotoi, our aim was to study antibody responses against GlpQ and Vmps in PCR-proven BMD patients and controls. Methods: We assessed seroreactivity against GlpQ and four Vmps in a well-described, longitudinal......, and IgG between 21 and 50 days, after disease onset. Various combinations of GlpQ and Vmps increased sensitivity and/or specificity compared to single antigens. Notably, the GlpQ or variable large protein (Vlp)-15/16 combination yielded a sensitivity of 94.7% (95% CI: 75.4–99.7) 11–20 days after disease......Objectives: Borrelia miyamotoi disease (BMD) is an emerging tick-borne disease in the Northern hemisphere. Serodiagnosis by measuring antibodies against glycerophosphodiester-phosphodiesterase (GlpQ) has been performed experimentally but has not been extensively clinically validated. Because we had...

A q-deformed nonlinear map

International Nuclear Information System (INIS)

Jaganathan, Ramaswamy; Sinha, Sudeshna

2005-01-01

A scheme of q-deformation of nonlinear maps is introduced. As a specific example, a q-deformation procedure related to the Tsallis q-exponential function is applied to the logistic map. Compared to the canonical logistic map, the resulting family of q-logistic maps is shown to have a wider spectrum of interesting behaviours, including the co-existence of attractors-a phenomenon rare in one-dimensional maps

Multiple solutions for a quasilinear (p,q-elliptic system

Directory of Open Access Journals (Sweden)

Seyyed Mohsen Khalkhali

2013-06-01

Full Text Available In this article we show the existence of three weak solutions of a Dirichlet quasilinear elliptic system of differential equations which involves a general (p,q-elliptic operator in divergence, with $1due to Ricceri.

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

Science.gov (United States)

Entesarian, Miriam; Carlsson, Birgit; Mansouri, Mahmoud Reza; Stattin, Eva-Lena; Holmberg, Eva; Golovleva, Irina; Stefansson, Hreinn; Klar, Joakim; Dahl, Niklas

2009-03-01

We identified a paracentric inversion of chromosome 10 [inv(10)(q11.22q21.1)] in 0.20% of Swedish individuals (15/7,439) referred for cytogenetic analysis. A retrospective analysis of 8,896 karyotypes from amniocenteses in Sweden revealed a carrier frequency of 0.079% (7/8,896) for the inversion. Cloning and detailed analysis of the inversion breakpoint regions show enrichment for interspersed repeat elements and AT-stretches. The centromeric breakpoint coincides with that of a predicted inversion from HapMap data, which suggests that this region is involved in several chromosome 10 variants. No known gene or predicted transcript are disrupted by the inversion which spans approximately 12 Mb. Carriers from four non-related Swedish families have identical inversion breakpoints and haplotype analysis confirmed that the rearrangement is identical by descent. Diagnosis was retrieved in 6 out of the 15 carriers referred for cytogenetic analysis. No consistent phenotype was found to be associated with the inversion. Our study demonstrates that the inv(10)(q11.22q21.1) is a rare and inherited chromosome variant with a broad geographical distribution in Sweden. 2009 Wiley-Liss, Inc.

The exponent λ (x,Q ) of the proton structure function F (x, Q ) at low ...

Indian Academy of Sciences (India)

from the gluon (g —q¯q) and so the contribution from the quark can be neglected. In the DGLAP formalism an approximate relationship can be obtained between the gluon momentum density G(x,Q2) and the logarithmic slope of the structure function F2(x,Q2). There are several such relations [6–8] available in the literature.

Meta-metallic coils and resonators: Methods for high Q-value resonant geometries

Energy Technology Data Exchange (ETDEWEB)

Mett, R. R. [Department of Biophysics, Medical College of Wisconsin, Milwaukee, Wisconsin 53226 (United States); Department of Physics and Chemistry, Milwaukee School of Engineering, Milwaukee, Wisconsin 53202 (United States); Sidabras, J. W.; Hyde, J. S. [Department of Biophysics, Medical College of Wisconsin, Milwaukee, Wisconsin 53226 (United States)

2016-08-15

A novel method of decreasing ohmic losses and increasing Q-value in metallic resonators at high frequencies is presented. The method overcomes the skin-depth limitation of rf current flow cross section. The method uses layers of conductive foil of thickness less than a skin depth and capacitive gaps between layers. The capacitive gaps can substantially equalize the rf current flowing in each layer, resulting in a total cross-sectional dimension for rf current flow many times larger than a skin depth. Analytic theory and finite-element simulations indicate that, for a variety of structures, the Q-value enhancement over a single thick conductor approaches the ratio of total conductor thickness to skin depth if the total number of layers is greater than one-third the square of the ratio of total conductor thickness to skin depth. The layer number requirement is due to counter-currents in each foil layer caused by the surrounding rf magnetic fields. We call structures that exhibit this type of Q-enhancement “meta-metallic.” In addition, end effects due to rf magnetic fields wrapping around the ends of the foils can substantially reduce the Q-value for some classes of structures. Foil structures with Q-values that are substantially influenced by such end effects are discussed as are five classes of structures that are not. We focus particularly on 400 MHz, which is the resonant frequency of protons at 9.4 T. Simulations at 400 MHz are shown with comparison to measurements on fabricated structures. The methods and geometries described here are general for magnetic resonance and can be used at frequencies much higher than 400 MHz.

q-deformed Brownian motion

CERN Document Server

Man'ko, V I

1993-01-01

Brownian motion may be embedded in the Fock space of bosonic free field in one dimension.Extending this correspondence to a family of creation and annihilation operators satisfying a q-deformed algebra, the notion of q-deformation is carried from the algebra to the domain of stochastic processes.The properties of q-deformed Brownian motion, in particular its non-Gaussian nature and cumulant structure,are established.

[Coenzyme Q10 (Q-ter) in treatment of functional voice disorders].

Science.gov (United States)

Sensini, M; Corvino, A; Passeri, L; Gallone, G O; Landolfo, V; Raimondo, L; Giordano, C

2011-01-01

Aim of this study was to evaluate the effectivness of Coenzyme Q-Ter and Vitamin A in functional voice disorders. Twenty two patients were treated with CoQ10-ter and vitamin A twice a day for ten days. A general otolaryngological/foniatric and logopedic examination were performed. Videolaringostroboscopy, GIRBAS, Voice Handicap Index questionnaire and Multi-Dimensional Voice analysis were carried out before and after treatment. In all patients an improvement was observed in almost all parameters considered after treatment. CoQ10-ter and Vitamin A risulted effective in treatment of patients with functional voice disorders (caused by vocal "malmenage" or "surmenage").

μ-'Diving suit' for liquid-phase high-Q resonant detection.

Science.gov (United States)

Yu, Haitao; Chen, Ying; Xu, Pengcheng; Xu, Tiegang; Bao, Yuyang; Li, Xinxin

2016-03-07

A resonant cantilever sensor is, for the first time, dressed in a water-proof 'diving suit' for real-time bio/chemical detection in liquid. The μ-'diving suit' technology can effectively avoid not only unsustainable resonance due to heavy liquid-damping, but also inevitable nonspecific adsorption on the cantilever body. Such a novel technology ensures long-time high-Q resonance of the cantilever in solution environment for real-time trace-concentration bio/chemical detection and analysis. After the formation of the integrated resonant micro-cantilever, a patterned photoresist and hydrophobic parylene thin-film are sequentially formed on top of the cantilever as sacrificial layer and water-proof coat, respectively. After sacrificial-layer release, an air gap is formed between the parylene coat and the cantilever to protect the resonant cantilever from heavy liquid damping effect. Only a small sensing-pool area, located at the cantilever free-end and locally coated with specific sensing-material, is exposed to the liquid analyte for gravimetric detection. The specifically adsorbed analyte mass can be real-time detected by recording the frequency-shift signal. In order to secure vibration movement of the cantilever and, simultaneously, reject liquid leakage from the sensing-pool region, a hydrophobic parylene made narrow slit structure is designed surrounding the sensing-pool. The anti-leakage effect of the narrow slit and damping limited resonance Q-factor are modelled and optimally designed. Integrated with electro-thermal resonance excitation and piezoresistive frequency readout, the cantilever is embedded in a micro-fluidic chip to form a lab-chip micro-system for liquid-phase bio/chemical detection. Experimental results show the Q-factor of 23 in water and longer than 20 hours liquid-phase continuous working time. Loaded with two kinds of sensing-materials at the sensing-pools, two types of sensing chips successfully show real-time liquid-phase detection to ppb

Electrical tuning of mechanical characteristics in qPlus sensor: Active Q and resonance frequency control

Energy Technology Data Exchange (ETDEWEB)

Lee, Manhee; Hwang, Jong Geun; Jahng, Junghoon; Kim, QHwan; Noh, Hanaul; An, Sangmin; Jhe, Wonho, E-mail: whjhe@snu.ac.kr [Department of Physics and Astronomy, Institute of Applied Physics and Centre for THz-Bio Application Systems, Seoul National University, Seoul 151-747 (Korea, Republic of)

2016-08-21

We present an electrical feedback method for independent and simultaneous tuning of both the resonance frequency and the quality factor of a harmonic oscillator, the so called “qPlus” configuration of quartz tuning forks. We incorporate a feedback circuit with two electronic gain parameters into the original actuation-detection system, and systematically demonstrate the control of the original resonance frequency of 32 592 Hz from 32 572 Hz to 32 610 Hz and the original quality factor 952 from 408 up to 20 000. This tunable module can be used for enhancing and optimizing the oscillator performance in compliance with specifics of applications.

Electrical tuning of mechanical characteristics in qPlus sensor: Active Q and resonance frequency control

International Nuclear Information System (INIS)

Lee, Manhee; Hwang, Jong Geun; Jahng, Junghoon; Kim, QHwan; Noh, Hanaul; An, Sangmin; Jhe, Wonho

2016-01-01

We present an electrical feedback method for independent and simultaneous tuning of both the resonance frequency and the quality factor of a harmonic oscillator, the so called “qPlus” configuration of quartz tuning forks. We incorporate a feedback circuit with two electronic gain parameters into the original actuation-detection system, and systematically demonstrate the control of the original resonance frequency of 32 592 Hz from 32 572 Hz to 32 610 Hz and the original quality factor 952 from 408 up to 20 000. This tunable module can be used for enhancing and optimizing the oscillator performance in compliance with specifics of applications.

Wave-equation Q tomography

KAUST Repository

Dutta, Gaurav

2016-10-12

Strong subsurface attenuation leads to distortion of amplitudes and phases of seismic waves propagating inside the earth. The amplitude and the dispersion losses from attenuation are often compensated for during prestack depth migration. However, most attenuation compensation or Qcompensation migration algorithms require an estimate of the background Q model. We have developed a wave-equation gradient optimization method that inverts for the subsurface Q distribution by minimizing a skeletonized misfit function ∈, where ∈ is the sum of the squared differences between the observed and the predicted peak/centroid-frequency shifts of the early arrivals. The gradient is computed by migrating the observed traces weighted by the frequency shift residuals. The background Q model is perturbed until the predicted and the observed traces have the same peak frequencies or the same centroid frequencies. Numerical tests determined that an improved accuracy of the Q model by wave-equation Q tomography leads to a noticeable improvement in migration image quality. © 2016 Society of Exploration Geophysicists.

Wave-equation Q tomography

KAUST Repository

Dutta, Gaurav; Schuster, Gerard T.

2016-01-01

Strong subsurface attenuation leads to distortion of amplitudes and phases of seismic waves propagating inside the earth. The amplitude and the dispersion losses from attenuation are often compensated for during prestack depth migration. However, most attenuation compensation or Qcompensation migration algorithms require an estimate of the background Q model. We have developed a wave-equation gradient optimization method that inverts for the subsurface Q distribution by minimizing a skeletonized misfit function ∈, where ∈ is the sum of the squared differences between the observed and the predicted peak/centroid-frequency shifts of the early arrivals. The gradient is computed by migrating the observed traces weighted by the frequency shift residuals. The background Q model is perturbed until the predicted and the observed traces have the same peak frequencies or the same centroid frequencies. Numerical tests determined that an improved accuracy of the Q model by wave-equation Q tomography leads to a noticeable improvement in migration image quality. © 2016 Society of Exploration Geophysicists.

Coenzyme Q10 and Neurological Diseases

Directory of Open Access Journals (Sweden)

Gabriele Siciliano

2009-12-01

Full Text Available Coenzyme Q10 (CoQ10, or ubiquinone is a small electron carrier of the mitochondrial respiratory chain with antioxidant properties. CoQ10 supplementation has been widely used for mitochondrial disorders. The rationale for using CoQ10 is very powerful when this compound is primary decreased because of defective synthesis. Primary CoQ10 deficiency is a treatable condition, so heightened “clinical awareness” about this diagnosis is essential. CoQ10 and its analogue, idebenone, have also been widely used in the treatment of other neurodegenerative disorders. These compounds could potentially play a therapeutic role in Parkinson’s disease, Huntington’s disease, amyotrophic lateral sclerosis, Friedreich’s ataxia, and other conditions which have been linked to mitochondrial dysfunction. This article reviews the physiological roles of CoQ10, as well as the rationale and the role in clinical practice of CoQ10 supplementation in different neurological diseases, from primary CoQ10 deficiency to neurodegenerative disorders.

Four novel Loci (19q13, 6q24, 12q24, and 5q14 influence the microcirculation in vivo.

Directory of Open Access Journals (Sweden)

M Kamran Ikram

2010-10-01

Full Text Available There is increasing evidence that the microcirculation plays an important role in the pathogenesis of cardiovascular diseases. Changes in retinal vascular caliber reflect early microvascular disease and predict incident cardiovascular events. We performed a genome-wide association study to identify genetic variants associated with retinal vascular caliber. We analyzed data from four population-based discovery cohorts with 15,358 unrelated Caucasian individuals, who are members of the Cohort for Heart and Aging Research in Genomic Epidemiology (CHARGE consortium, and replicated findings in four independent Caucasian cohorts (n  =  6,652. All participants had retinal photography and retinal arteriolar and venular caliber measured from computer software. In the discovery cohorts, 179 single nucleotide polymorphisms (SNP spread across five loci were significantly associated (p<5.0×10(-8 with retinal venular caliber, but none showed association with arteriolar caliber. Collectively, these five loci explain 1.0%-3.2% of the variation in retinal venular caliber. Four out of these five loci were confirmed in independent replication samples. In the combined analyses, the top SNPs at each locus were: rs2287921 (19q13; p  =  1.61×10(-25, within the RASIP1 locus, rs225717 (6q24; p = 1.25×10(-16, adjacent to the VTA1 and NMBR loci, rs10774625 (12q24; p  =  2.15×10(-13, in the region of ATXN2,SH2B3 and PTPN11 loci, and rs17421627 (5q14; p = 7.32×10(-16, adjacent to the MEF2C locus. In two independent samples, locus 12q24 was also associated with coronary heart disease and hypertension. Our population-based genome-wide association study demonstrates four novel loci associated with retinal venular caliber, an endophenotype of the microcirculation associated with clinical cardiovascular disease. These data provide further insights into the contribution and biological mechanisms of microcirculatory changes that underlie cardiovascular

Outbreak of Q-fever in a Yugoslav army unit in wartime conditions

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Čekanac Radovan

2002-01-01

Full Text Available In an outbreak of Q-fever in an Army unit lasting 9 days, 20 (13.4% soldiers had contracted a disease. The outbreak occurred due to the entry of the unit into the focus originated by lambing and pasture of infected sheep. The source of the infection was the contaminated dust from the grassland where the soldiers were training, and they were infected by aerogenic way. In 11 (55% patients, the disease was manifested as pneumonia that was radiological confirmed in 7 (35% patients, while the rest were with the symptoms of influenza and upper airways infection. As soon as tetracycline was administered, health state of the patients was significantly improved and all were released as cured after the treatment. Finding of the antibodies to coxiella burnetii in 66.6% of the patients confirmed the etiology of the disease in this outbreak.

Optimization of Q-factor of AFM cantilevers using genetic algorithms

Energy Technology Data Exchange (ETDEWEB)

Perez-Cruz, Angel, E-mail: elapc27@gmail.com [Faculty of Engineering, Universidad Autonoma de Queretaro, Queretaro (Mexico); Dominguez-Gonzalez, Aurelio [Faculty of Engineering, Universidad Autonoma de Queretaro, Queretaro (Mexico); Stiharu, Ion [Department of Mechanical and Industrial Engineering, Concordia University, Montreal (Canada); Osornio-Rios, Roque A. [Faculty of Engineering, Universidad Autonoma de Queretaro, Queretaro (Mexico)

2012-04-15

Micro cantilever beams have been intensively used in sensing applications including to scanning profiles and surfaces where there resolution and imaging speed are critical. Force resolution is related to the Q-factor. When the micro-cantilever operates in air with small separation gaps, the Q-factor is even more reduced due to the squeeze-film damping effect. Thus, the optimization of the configuration of an AFM micro-cantilever is presented in this work with the objective of improving its Q-factor. To accomplish this task, we propose the inclusion of holes as breathing chimneys in the initial design to reduce the squeeze-film damping effect. The evaluation of the Q-factor was carried out using finite element model, which is implemented to work together with the squeeze-film damping model. The methodology applied in the optimization process was genetic algorithms, which considers as constraints the maximum allowable stress, fundamental frequency and spring constant with respect to the initial design. The results show that the optimum design, which includes holes with an optimal location, increases the Q-factor almost five times compared to the initial design. -- Highlights: Black-Right-Pointing-Pointer It was optimized the Q-factor of a cantilever, which operates near to the surface in air. Black-Right-Pointing-Pointer It was proposed the inclusion of holes as breathing chimneys in the cantilever's surface. Black-Right-Pointing-Pointer Genetic algorithms and finite element analysis were applied to find the optimum configuration for the Q-factor. Black-Right-Pointing-Pointer Optimum design keeps first frequency and the spring constant very close to the original and has a better force resolution. Black-Right-Pointing-Pointer Final design can be easily manufactured through a mask.

Neutral Probe Beam q-profile measurements in PDX and PBX-M

International Nuclear Information System (INIS)

Kugel, H.W.; Gammel, G.M.; Kaita, R.; Reusch, M.F.; Roberts, D.W.

1988-06-01

Using the Fast Ion Diagnostic Experiment (FIDE) technique, a Neutral Probe Beam (NPB) can be aimed to inject tangentially to a magnetic surface. The resultant ion orbit shifts, due to conservation of canonical toroidal angular momentum, can be measured with a multi-sightline charge-exchange analyzer to yield direct measurements of radial magnetic flux profiles, current density profiles, the radial position of the magnetic axis, flux surface inner and outer edges, q-profiles, and central-q time dependencies. An extensive error analysis was performed on previous PDX q-measurements in circular plasmas and the resulting estimated contributions of various systematic effects are discussed. Preliminary results of fast ion orbit shift measurements at early times in indented PBX-M plasmas are given. Methods for increasing the absolute experimental precision of similar measurements in progress on PBX-M are discussed. 4 refs., 3 figs

RecQ Helicases

DEFF Research Database (Denmark)

Larsen, Nicolai Balle; Hickson, Ian D

2013-01-01

The RecQ family of DNA helicases is highly conserved throughout -evolution, and is important for the maintenance of genome stability. In humans, five RecQ family members have been identified: BLM, WRN, RECQ4, RECQ1 and RECQ5. Defects in three of these give rise to Bloom's syndrome (BLM), Werner...

Social Q&A’s Enlightenment to the Library Virtual Reference Service

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Yang Yukun

2017-10-01

Full Text Available [Purpose/significance] Under the circumstance of Web2.0, the social Q&As, possessing the similar functions of the library virtual reference services, emerge consequently and enjoy tremendous prosperity. Thus, conducting the research of its success could shed light on the sustainable development of the library’s virtual reference services. [Method/process] According to the present-day situation that Social Q&A’s prosperity challenged the library virtual reference service, a literature review of domestic and foreign relevant research was completed. On the base of this review, typical Internet Q&A websites such as Baidu Knows and Yahoo Answers, social network-oriented Q&A websites such as Zhihu and Quora, were selected as the research objects. Then, the paper analyzed the traits of four representative SQA platforms from the perspectives of the Internet interlocution mode, the information organization mode and the user interaction and management mode. In addition, an experiment between SQAs and VRS was conducted as empirical research. [Result/conclusion] Finally, on the base of the research status, the platform investigation and experimental outcomes, the improvement suggestions for library VRS are proposed.

The roles of the Q (q) wave in lead I and QRS frontal axis for diagnosing loss of left ventricular capture during cardiac resynchronization therapy.

Science.gov (United States)

Cao, Yuan-Yuan; Su, Yan-Gang; Bai, Jin; Wang, Wei; Wang, Jing-Feng; Qin, Sheng-Mei; Ge, Jun-Bo

2015-01-01

Loss of left ventricular (LV) capture may lead to deterioration of heart failure in patients with cardiac resynchronization therapy (CRT). Recognition of loss of LV capture in time is important in clinical practice. A total of 422 electrocardiograms were acquired and analyzed from 53 CRT patients at 8 different pacing settings (LV only, right ventricle [RV] only, biventricular [BV] pacing with LV preactivation of 60, 40, 20, and 0 milliseconds and RV preactivation of 20 and 40 milliseconds). A modified Ammann algorithm by adding a third step-presence of Q (q, or QS) wave-to the original 2-step Ammann algorithm and a QRS axis shift method were devised to identify the loss of LV capture. The accuracy of modified Ammann algorithm was significantly higher than that of Ammann algorithm (78.9% vs. 69.1%, P capture. The LV preactivation, or simultaneous BV activation and LV lead positioned in nonposterior or noninferior wall can increase the diagnostic power of the modified Ammann algorithm and QRS axis shift method. © 2014 Wiley Periodicals, Inc.

Structure, function, pharmacology and therapeutic potential of the G protein, Gα/q,11

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Danielle eKamato

2015-03-01

Full Text Available G protein coupled receptors are one of the major classes of cell surface receptors and are associated with a group of G proteins consisting of 3 subunits termed alpha, beta and gamma. G proteins are classified into four families according to their α subunit; Gαi, Gαs, Gα12/13 and Gαq. There are several downstream pathways of Gαq of which the best known is upon activation via GTP, Gαq activates phospholipase Cβ, hydrolysing phosphatidylinositol 4,5-biphosphate into diacylglycerol and inositol triphosphate and activating protein kinase C and increasing calcium efflux from the endoplasmic recticulum. Although G proteins, in particular the Gαq/11 are central elements in GPCR signalling, their actual roles have not yet been thoroughly investigated. The lack of research of the role on Gαq/11 in cell biology is partially due to the obscure nature of the available pharmacological agents. YM-254890 is the most useful Gαq-selective inhibitor with antiplatelet, antithrombotic and thrombolytic effects. YM-254890 inhibits Gαq signalling pathways by preventing the exchange of GDP for GTP. UBO-QIC is a structurally similar compound to YM-254890 which can inhibit platelet aggregation and cause vasorelaxation in rats. Many agents are available for the study of signalling downstream of Gαq/11. The role of G proteins could potentially represents a novel therapeutic target to block all G protein dependent mechanisms. This review will explore the range of pharmacological and molecular tools available for the study of the role of Gαq/11 in GPCR signalling.

A leukemic double-hit follicular lymphoma associated with a complex variant translocation, t(8;14;18)(q24;q32;q21), involving BCL2, MYC, and IGH.

Science.gov (United States)

Minakata, Daisuke; Sato, Kazuya; Ikeda, Takashi; Toda, Yumiko; Ito, Shoko; Mashima, Kiyomi; Umino, Kento; Nakano, Hirofumi; Yamasaki, Ryoko; Morita, Kaoru; Kawasaki, Yasufumi; Sugimoto, Miyuki; Yamamoto, Chihiro; Ashizawa, Masahiro; Hatano, Kaoru; Oh, Iekuni; Fujiwara, Shin-Ichiro; Ohmine, Ken; Kawata, Hirotoshi; Muroi, Kazuo; Miura, Ikuo; Kanda, Yoshinobu

2018-01-01

Double-hit lymphoma (DHL) is defined as lymphoma with concurrent BCL2 and MYC translocations. While the most common histological subtype of DHL is diffuse large B-cell lymphoma, the present patient had leukemic follicular lymphoma (FL). A 52-year-old man was admitted to our hospital due to general fatigue and cervical and inguinal lymph node swelling. The patient was leukemic and the pathological diagnosis of the inguinal lymph node was FL grade 1. Chromosomal analysis revealed a complex karyotype including a rare three-way translocation t(8;14;18)(q24;q32;q21) involving the BCL2, MYC, and IGH genes. Based on a combination of fluorescence in situ hybridization (FISH), using BCL2, MYC and IGH, and spectral karyotyping (SKY), the karyotype was interpreted as being the result of a multistep mechanism in which the precursor B-cell gained t(14;18) in the bone marrow and acquired a translocation between der(14)t(14;18) and chromosome 8 in the germinal center, resulting in t(8;14;18). The pathological diagnosis was consistently FL, not only at presentation but even after a second relapse. The patient responded well to standard chemotherapies but relapsed after a short remission. This patient is a unique case of leukemic DH-FL with t(8;14;18) that remained in FL even at a second relapse. Copyright © 2017 Elsevier Inc. All rights reserved.

Olanzapine induced Q-Tc shortening.

Science.gov (United States)

Shoja Shafti, Saeed; Fallah Jahromi, Parisa

2014-12-01

Prolongation of Q-Tc interval is commonly accepted as a surrogate marker for the ability of a drug to cause torsade de pointes. In the present study, safety of olanzapine versus risperidone was compared among a group of patients with schizophrenia to see the frequency of the electrocardiographic alterations induced by those atypical antipsychotics. Two hundred and sixty-eight female inpatients with schizophrenia entered in one of the two parallel groups to participate in an open study for random assignment to olanzapine (n = 148) or risperidone (n = 120). Standard 12-lead surface electrocardiogram (ECG) was taken from each patient at baseline, before initiation of treatment, and then at the end of management, just before discharge. The parameters that were assessed included heart rate (HR), P-R interval, QRS interval, Q-T interval (corrected = Q-Tc), ventricular activation time (VAT), ST segment, T wave, axis of QRS, and finally, interventricular conduction process. A total of 37.83% of cases in the olanzapine group and 30% in the risperidone group showed some Q-Tc changes; 13.51% and 24.32% of the patients in the olanzapine group showed prolongation and shortening of the Q-Tc, respectively, while changes in the risperidone group were restricted to only prolongation of Q-Tc. Comparison of means showed a significant increment in Q-Tc by risperidone (p = 0.02). Also, comparison of proportions in the olanzapine group showed significantly more cases with shortening of Q-Tc versus its prolongation (p = 0.01). No significant alterations with respect to other variables were evident. Olanzapine and risperidone had comparable potentiality for induction of Q-Tc changes, while production of further miscellaneous alterations in ECG was more observable in the olanzapine group compared with the risperidone group. Also shortening of Q-Tc was specific to olanzapine.

On q-analogues of the Mangontarum transform for certain q-Bessel functions and some application

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S.K.Q. Al-Omari

2016-10-01

Full Text Available Several q-analogues of certain integral transforms have been recently investigated by many authors in the recent past. In this paper, we introduce certain analogues of the so-called q-Mangontarum transform and implement the proposed variants to given classes of q-Bessel functions. The results of this paper are new and complement the previously known results of Mangontarum (2014. Some results related to q-Laplace transforms are also obtained.

Increasing the beta limit due to neoclassical tearing modes by raising the axial safety factor q(0) > 1

International Nuclear Information System (INIS)

La Haye, R.J.; Strait, E.J.; Rice, B.W.

2000-01-01

Resistive neoclassical tearing modes (NTMs) can cause the stable beta value in long pulse, high confinement plasmas to fall significantly below that predicted by ideal theory. The NTM islands which degrade confinement and limit beta are induced and sustained by helically perturbed bootstrap currents. A combination of shaping and q-profile modification is used in the DIII-D tokamak to increase this beta limit. (author)

Q-deformed systems and constrained dynamics

International Nuclear Information System (INIS)

Shabanov, S.V.

1993-01-01

It is shown that quantum theories of the q-deformed harmonic oscillator and one-dimensional free q-particle (a free particle on the 'quantum' line) can be obtained by the canonical quantization of classical Hamiltonian systems with commutative phase-space variables and a non-trivial symplectic structure. In the framework of this approach, classical dynamics of a particle on the q-line coincides with the one of a free particle with friction. It is argued that q-deformed systems can be treated as ordinary mechanical systems with the second-class constraints. In particular, second-class constrained systems corresponding to the q-oscillator and q-particle are given. A possibility of formulating q-deformed systems via gauge theories (first-class constrained systems) is briefly discussed. (orig.)

Chromosomal instability in acute myelocytic leukemia and myelodysplastic syndrome patients among atomic bomb survivors

International Nuclear Information System (INIS)

Nakanishi, Mitsue; Tanaka, Kimio; Shintani, Takahiro; Takahashi, Tomoko; Kamada, Nanao

1999-01-01

To clarify the mechanism of leukemogenesis in atomic bomb survivors, leukemic cells were investigated using fluorescence in situ hybridization (FISH) analysis on the basis of conventional G-banding in patients with a history of radiation exposure and also in de novo patients. Conventional G-banding showed higher incidences (p<0.005) of structural and numerical abnormalities without any specific types of chromosome aberrations in the group exposed to a dose of more than one Gy, compared to the non-exposed group. FISH analysis revealed significantly higher incidences (P<0.05) of subclones with monosomy 7 and deletion of the 20q13.2 region, which were not found in conventional cytogenetic analysis in the exposed group (more than one Gy) compared to the non-exposed controls. Furthermore, segmental jumping translocation (SJT) of the c-MYC gene region was observed only in the exposed group. These chromosomal instability suggested that the leukemic cells from the heavily exposed patients contained persistent cellular genetic instability which may strongly influence the development of leukemia in people exposed to radiation. (author)

Colorectal cancer linkage on chromosomes 4q21, 8q13, 12q24, and 15q22.

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Mine S Cicek

Full Text Available A substantial proportion of familial colorectal cancer (CRC is not a consequence of known susceptibility loci, such as mismatch repair (MMR genes, supporting the existence of additional loci. To identify novel CRC loci, we conducted a genome-wide linkage scan in 356 white families with no evidence of defective MMR (i.e., no loss of tumor expression of MMR proteins, no microsatellite instability (MSI-high tumors, or no evidence of linkage to MMR genes. Families were ascertained via the Colon Cancer Family Registry multi-site NCI-supported consortium (Colon CFR, the City of Hope Comprehensive Cancer Center, and Memorial University of Newfoundland. A total of 1,612 individuals (average 5.0 per family including 2.2 affected were genotyped using genome-wide single nucleotide polymorphism linkage arrays; parametric and non-parametric linkage analysis used MERLIN in a priori-defined family groups. Five lod scores greater than 3.0 were observed assuming heterogeneity. The greatest were among families with mean age of diagnosis less than 50 years at 4q21.1 (dominant HLOD = 4.51, α = 0.84, 145.40 cM, rs10518142 and among all families at 12q24.32 (dominant HLOD = 3.60, α = 0.48, 285.15 cM, rs952093. Among families with four or more affected individuals and among clinic-based families, a common peak was observed at 15q22.31 (101.40 cM, rs1477798; dominant HLOD = 3.07, α = 0.29; dominant HLOD = 3.03, α = 0.32, respectively. Analysis of families with only two affected individuals yielded a peak at 8q13.2 (recessive HLOD = 3.02, α = 0.51, 132.52 cM, rs1319036. These previously unreported linkage peaks demonstrate the continued utility of family-based data in complex traits and suggest that new CRC risk alleles remain to be elucidated.

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

Science.gov (United States)

Passariello, Annalisa; De Brasi, Daniele; Defferrari, Raffaella; Genesio, Rita; Tufano, Maria; Mazzocco, Katia; Capasso, Maria; Migliorati, Roberta; Martinsson, Tommy; Siani, Paolo; Nitsch, Lucio; Tonini, Gian Paolo

2013-11-01

Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for chromosomal anomalies. Its role in determining the phenotype depends on extension and position of deleted region. Loss of heterozygosity of 11q (region 11q23) is also associated with neuroblastoma, the most frequent extra cranial cancer in children. It represents one of the most frequent cytogenetic abnormalities observed in the tumor of patients with high-risk disease even if germline deletion of 11q in neuroblastoma is rare. Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions. The role of 11q deletion in determining the clinical phenotype and its association with neuroblastoma development in the patient are discussed. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

[Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

Science.gov (United States)

Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

2017-02-10

To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

q-bosons, Toda lattice, Pieri rules and Baxter q-operator

International Nuclear Information System (INIS)

Duval, Antoine; Pasquier, Vincent

2016-01-01

We use the Pieri rules to recover the q-boson model and show it is equivalent to a discretized version of the relativistic Toda chain. We identify its semi infinite transfer matrix and the corresponding Baxter Q-matrix with half vertex operators related by an ω-duality transformation. We observe that the scalar product of two higher spin XXZ wave functions can be expressed with a Gaudin determinant. (paper)

Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk.

Science.gov (United States)

Baer, Tamar G; Freeman, Christopher E; Cujar, Claudia; Mansukhani, Mahesh; Singh, Bahadur; Chen, Xiaowei; Abellar, Rosanna; Oberfield, Sharon E; Levy, Brynn

2017-01-01

Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du-plicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue. © 2017 S. Karger AG, Basel.

Comparative genomic hybridization analysis detects frequent over-representation of DNA sequences at 3q, 7p, 8q and 18q in head and neck carcinomas

DEFF Research Database (Denmark)

Bergamo, N A; Rogatto, S R; Poli-Frederico, R C

2000-01-01

Comparative genomic hybridization (CGH) was used to identify chromosomal imbalances in 19 samples of squamous cell carcinoma of the head and neck (HNSCC). The chromosome arms most often over-represented were 3q (48%), 8q (42%), and 7p (32%); in many cases, these changes were observed at high copy...... and 2q material were detected in patients exhibiting a clinical history of recurrence and/or metastasis followed by terminal disease. This association suggests that gain of 1q and 2q may be a new marker of head and neck tumors with a refractory clinical response....

Effect of dietary coenzyme Q10 supplementation on serum and bone minerals and leg weakness mortality in broilers

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M. Gopi

2014-05-01

Full Text Available Aim: This work was carried out to study the effect of coenzyme Q10 supplementation on serum calcium and phosphorus levels, tibial bone weight, bone ash, bone calcium and phosphorus levels and mortality of birds due to leg weakness when the broilers were maintained under high environmental temperature. Materials and Methods: The trial was carried out on 216 Cobb400 broiler chicks and divided into four groups with nine replicates and each replicate consisting of six birds. The treatments include normal energy diet (NE (as per breeder's specifications (G1, high energy (HE (NE plus 100 kcal/kg diet without CoQ10 supplementation (G2, high energy diet supplemented with CoQ10 at 20 mg/kg (G3 and high energy diet supplemented with CoQ10 at 40 mg/kg (G4. The experiment was carried out when the temperature humidity index (THI ranged from 33.05 to 38.65oC for a period of 42 days. Results: The serum calcium and phosphorus levels in the G1, G2, G3 and G4 were 9.07 ± 0.22, 8.48 ± 0.10, 8.30 ± 0.10, 8.32 ± 0.12 and 4.90 ± 0.20, 4.06 ± 0.32, 3.96 ± 0.17, 4.02 ± 0.24, respectively. The tibial bone weight (g was 21.58 ± 1.32, 17.92 ± 1.90, 18.67 ± 1.30 and 17.42 ± 1.18; tibial bone Ash (% 46.67 ± 2.71, 44.48 ± 2.40, 44.66 ± 3.09 and 44.62 ± 1.74; Bone calcium (% 33.57 ± 0.2, 31.27 ± 0.55, 31.50 ± 0.45 and 31.47 ± 0.83, bone phosphorus (% was 11.86 ± 0.16, 10.38 ± 0.11, 10.68 ± 0.08 and 10.39 ± 0.17, respectively in G1, G2, G3 and G4 groups. The serum calcium and phosphorus levels were significantly higher (P<0.05 in G1 over the other three groups. The tibial bone weight was not altered by the energy level or the coenzyme Q10 supplementation. The tibial bone calcium and phosphorus levels were significantly higher in G1 than the other three groups. Conclusion: The supplementation of coenzyme Q10 did not alter the serum and tibial bone calcium and phosphorus levels. The leg abnormality associated mortality was significantly decreased in G3

Some aspects of q-boson calculus

International Nuclear Information System (INIS)

Smirnov, Yu.F.; Kibler, M.R.

1992-10-01

The Jordan-Schwinger calculus is discussed, using deformed bosons. This work constitutes a first step toward a complete study of the SU q (2) unit tensor. The objective is to find a realization of the components of this tensor in terms of q-bosons. The q-deformed Schwinger algebra relative to SU q (2) is defined, and an algorithm for producing recurrent relations between Clebsch-Gordan coefficients for SU q (2) is given. (K.A.) 18 refs

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2

Science.gov (United States)

Wright, Fred A.; Strug, Lisa J.; Doshi, Vishal K.; Commander, Clayton W.; Blackman, Scott M.; Sun, Lei; Berthiaume, Yves; Cutler, David; Cojocaru, Andreea; Collaco, J. Michael; Corey, Mary; Dorfman, Ruslan; Goddard, Katrina; Green, Deanna; Kent, Jack W.; Lange, Ethan M.; Lee, Seunggeun; Li, Weili; Luo, Jingchun; Mayhew, Gregory M.; Naughton, Kathleen M.; Pace, Rhonda G.; Paré, Peter; Rommens, Johanna M.; Sandford, Andrew; Stonebraker, Jaclyn R.; Sun, Wei; Taylor, Chelsea; Vanscoy, Lori L.; Zou, Fei; Blangero, John; Zielenski, Julian; O’Neal, Wanda K.; Drumm, Mitchell L.; Durie, Peter R.; Knowles, Michael R.; Cutting, Garry R.

2012-01-01

A combined genome-wide association and linkage study was used to identify loci causing variation in CF lung disease severity. A significant association (P=3. 34 × 10-8) near EHF and APIP (chr11p13) was identified in F508del homozygotes (n=1,978). The association replicated in F508del homozygotes (P=0.006) from a separate family-based study (n=557), with P=1.49 × 10-9 for the three-study joint meta-analysis. Linkage analysis of 486 sibling pairs from the family-based study identified a significant QTL on chromosome 20q13.2 (LOD=5.03). Our findings provide insight into the causes of variation in lung disease severity in CF and suggest new therapeutic targets for this life-limiting disorder. PMID:21602797

Structure of the Regulator of G Protein Signaling 8 (RGS8)-Gαq Complex: MOLECULAR BASIS FOR Gα SELECTIVITY.

Science.gov (United States)

Taylor, Veronica G; Bommarito, Paige A; Tesmer, John J G

2016-03-04

Regulator of G protein signaling (RGS) proteins interact with activated Gα subunits via their RGS domains and accelerate the hydrolysis of GTP. Although the R4 subfamily of RGS proteins generally accepts both Gαi/o and Gαq/11 subunits as substrates, the R7 and R12 subfamilies select against Gαq/11. In contrast, only one RGS protein, RGS2, is known to be selective for Gαq/11. The molecular basis for this selectivity is not clear. Previously, the crystal structure of RGS2 in complex with Gαq revealed a non-canonical interaction that could be due to interfacial differences imposed by RGS2, the Gα subunit, or both. To resolve this ambiguity, the 2.6 Å crystal structure of RGS8, an R4 subfamily member, was determined in complex with Gαq. RGS8 adopts the same pose on Gαq as it does when bound to Gαi3, indicating that the non-canonical interaction of RGS2 with Gαq is due to unique features of RGS2. Based on the RGS8-Gαq structure, residues in RGS8 that contact a unique α-helical domain loop of Gαq were converted to those typically found in R12 subfamily members, and the reverse substitutions were introduced into RGS10, an R12 subfamily member. Although these substitutions perturbed their ability to stimulate GTP hydrolysis, they did not reverse selectivity. Instead, selectivity for Gαq seems more likely determined by whether strong contacts can be maintained between α6 of the RGS domain and Switch III of Gαq, regions of high sequence and conformational diversity in both protein families. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

Kaempferol increases levels of coenzyme Q in kidney cells and serves as a biosynthetic ring precursor.

Science.gov (United States)

Fernández-Del-Río, Lucía; Nag, Anish; Gutiérrez Casado, Elena; Ariza, Julia; Awad, Agape M; Joseph, Akil I; Kwon, Ohyun; Verdin, Eric; de Cabo, Rafael; Schneider, Claus; Torres, Jorge Z; Burón, María I; Clarke, Catherine F; Villalba, José M

2017-09-01

Coenzyme Q (Q) is a lipid-soluble antioxidant essential in cellular physiology. Patients with Q deficiencies, with few exceptions, seldom respond to treatment. Current therapies rely on dietary supplementation with Q 10 , but due to its highly lipophilic nature, Q 10 is difficult to absorb by tissues and cells. Plant polyphenols, present in the human diet, are redox active and modulate numerous cellular pathways. In the present study, we tested whether treatment with polyphenols affected the content or biosynthesis of Q. Mouse kidney proximal tubule epithelial (Tkpts) cells and human embryonic kidney cells 293 (HEK 293) were treated with several types of polyphenols, and kaempferol produced the largest increase in Q levels. Experiments with stable isotope 13 C-labeled kaempferol demonstrated a previously unrecognized role of kaempferol as an aromatic ring precursor in Q biosynthesis. Investigations of the structure-function relationship of related flavonols showed the importance of two hydroxyl groups, located at C3 of the C ring and C4' of the B ring, both present in kaempferol, as important determinants of kaempferol as a Q biosynthetic precursor. Concurrently, through a mechanism not related to the enhancement of Q biosynthesis, kaempferol also augmented mitochondrial localization of Sirt3. The role of kaempferol as a precursor that increases Q levels, combined with its ability to upregulate Sirt3, identify kaempferol as a potential candidate in the design of interventions aimed on increasing endogenous Q biosynthesis, particularly in kidney. Copyright © 2017 Elsevier Inc. All rights reserved.

Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard.

Science.gov (United States)

Duberley, Kate E C; Hargreaves, Iain P; Chaiwatanasirikul, Korn-Anong; Heales, Simon J R; Land, John M; Rahman, Shamima; Mills, Kevin; Eaton, Simon

2013-05-15

Neurological dysfunction is common in primary coenzyme Q10 (2,3-dimethoxy, 5-methyl, 6-polyisoprene parabenzoquinone; CoQ10 ; ubiquinone) deficiencies, the most readily treatable subgroup of mitochondrial disorders. Therapeutic benefit from CoQ10 supplementation has also been noted in other neurodegenerative diseases. CoQ10 can be measured by high-performance liquid chromatography (HPLC) in plasma, muscle or leucocytes; however, there is no reliable method to quantify CoQ10 in cerebrospinal fluid (CSF). Additionally, many methods use CoQ9 , an endogenous ubiquinone in humans, as an internal standard. Deuterated CoQ10 (d6 -CoQ10 ) was synthesised by a novel, simple, method. Total CoQ10 was measured by liquid chromatography/tandem mass spectrometry (LC/MS/MS) using d6 -CoQ10 as internal standard and 5 mM methylamine as an ion-pairing reagent. Chromatography was performed using a Hypsersil GOLD C4 column (150 × 3 mm, 3 µm). CoQ10 levels were linear over a concentration range of 0-200 nM (R(2) = 0.9995). The lower limit of detection was 2 nM. The inter-assay coefficient of variation (CV) was 3.6% (10 nM) and 4.3% (20 nM), and intra-assay CV 3.4% (10 nM) and 3.6% (20 nM). Reference ranges were established for CoQ10 in CSF (5.7-8.7 nM; n = 17), fibroblasts (57.0-121.6 pmol/mg; n = 50) and muscle (187.3-430.1 pmol/mg; n = 15). Use of d6 -CoQ10 internal standard has enabled the development of a sensitive LC/MS/MS method to accurately determine total CoQ10 levels. Clinical applications of CSF CoQ10 determination include identification of patients with cerebral CoQ10 deficiency, and monitoring CSF CoQ10 levels following supplementation. Copyright © 2013 John Wiley & Sons, Ltd.

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15(q27;q11.2 associated with Prader-Willi syndrome

Directory of Open Access Journals (Sweden)

Slater Howard R

2005-05-01

Full Text Available Abstract Background Prader-Willi syndrome (MIM #176270; PWS is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal uniparental disomy or mutations involving the imprinting center. De novo balanced reciprocal translocations in 5 reported individuals had breakpoints clustering in SNRPN intron 2 or exon 20/intron 20. To further dissect the PWS phenotype and define the minimal critical region for PWS features, we have studied a 22 year old male with a milder PWS phenotype and a de novo translocation t(4;15(q27;q11.2. Methods We used metaphase FISH to narrow the breakpoint region and molecular analyses to map the breakpoints on both chromosomes at the nucleotide level. The expression of genes on chromosome 15 on both sides of the breakpoint was determined by RT-PCR analyses. Results Pertinent clinical features include neonatal hypotonia with feeding difficulties, hypogonadism, short stature, late-onset obesity, learning difficulties, abnormal social behavior and marked tolerance to pain, as well as sticky saliva and narcolepsy. Relative macrocephaly and facial features are not typical for PWS. The translocation breakpoints were identified within SNRPN intron 17 and intron 10 of a spliced non-coding transcript in band 4q27. LINE and SINE sequences at the exchange points may have contributed to the translocation event. By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/HBII-85 and HBII-438A/B snoRNAs are not. Conclusion As part of the PWCR1/HBII-85 snoRNA cluster is highly conserved between human and mice, while no copy of HBII-438 has been found in mouse, we conclude that PWCR1/HBII-85 snoRNAs is likely to play a major role in the PWS- phenotype.

Comparison of V/Q SPECT and planar V/Q lung scintigraphy in diagnosing acute pulmonary embolism

DEFF Research Database (Denmark)

Borgwardt, Henrik Gutte; Mortensen, Jann; Jensen, Claus Verner

2010-01-01

Planar ventilation/perfusion (V/Q) scintigraphy is currently the standard method for the diagnosis of pulmonary embolism (PE) in most nuclear medicine centers. However, recent studies have shown a superior sensitivity and specificity when applying V/Q single photon emission computed tomography...... (SPECT) in diagnosing PE. This study evaluated the diagnostic performance of three-dimensional V/Q SPECT in comparison with planar V/Q scintigraphy....

q-entropy for symbolic dynamical systems

International Nuclear Information System (INIS)

Zhao, Yun; Pesin, Yakov

2015-01-01

For symbolic dynamical systems we use the Carathéodory construction as described in (Pesin 1997 Dimension Theory in Dynamical Systems, ConTemporary Views and Applications (Chicago: University of Chicago Press)) to introduce the notions of q-topological and q-metric entropies. We describe some basic properties of these entropies and in particular, discuss relations between q-metric entropy and local metric entropy. Both q-topological and q-metric entropies are new invariants respectively under homeomorphisms and metric isomorphisms of dynamical systems. (paper)

Benign chronic neutropenia with abnormalities involving 16q22, affecting mother and daughter.

Science.gov (United States)

Glasser, Lewis; Meloni-Ehrig, Aurelia; Joseph, Plakyil; Mendiola, Jennifer

2006-04-01

We report a case of familial, chronic, benign neutropenia in a 17-year-old female showing (1) the spontaneous expression of a heritable rare fragile site at 16q22 and (2) a deletion at the same region. The del(16)(q22), which most likely originated from the fragile site, was the main clonal abnormality detected in the patient's bone marrow cells, whereas a few cells with either del(16)(q22) or fra(16)(q22) were seen in the patient's peripheral blood. Interestingly, the del(16q) was also detected in the patient's uncultured cells, as demonstrated by FISH, excluding an in vitro origin of the del(16q) during culture. The bone marrow was hypocellular with decreased neutrophils and their precursors. Absolute neutrophil counts ranged from (0.62 to 1.24) x 10(9)/L with a median value of 1.02 x 10(9)/L. The patient had a more severe neutropenia than her mother, which correlated with the presence of more cells with del(16q) in the marrow. The patient's mother, who was also diagnosed with neutropenia, revealed only a few cells with the rare fra(16)(q22) in her peripheral blood cells, whereas her bone marrow showed cells with both fra(16)(q22) and del(16)(q22), although the del(16q) was present in only 2/20 cells. Some possible candidate genes contributing to the pathogenesis of the neutropenia are discussed. Chromosome abnormalities involving the 16q22 breakpoint have been observed in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). In this patient, the del(16)(q22) risk factor is unknown for subsequent development of MDS or AML. Another point to consider is the need to determine the origin of a chromosome abnormality, particularly when the clinical picture does not fit the chromosome findings. Although, the observation of a constitutional structural abnormality in a mosaic form is an extremely rare event, it is somewhat different in the case of a fragile site expression, which can, as in this case, be present in some cells and not in others. Copyright 2006

Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

Science.gov (United States)

Glass, I A; Stormer, P; Oei, P T; Hacking, E; Cotter, P D

1998-01-01

In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy. Images PMID:9598728

X- and Q-band EPR studies on fine powders of irradiated plants. New approach for detection of their radiation history by using Q-band EPR spectrometry

International Nuclear Information System (INIS)

Yordanov, Nicola D.; Aleksieva, Katerina

2004-01-01

X- and Q-band EPR studies after γ-irradiation of some dry spices and aromatic herbs are reported. Before irradiation all samples show only one singlet line in X-band EPR, whereas the Q-band EPR spectrum of the same samples is a superposition of two individual spectra--one corresponding to the above EPR signal, with an anisotropic spectrum, and a second one consisting of six lines due to the Mn 2+ naturally present in plants. The radiation induced EPR signal due to cellulose free radicals was not detected after γ-irradiation, but only the increase of the natural signal present before the irradiation. The fading kinetic of this EPR signal was monitored in three cases--when samples were kept in plastic bags without any special conditioning after irradiation, when samples were covered with paraffin before irradiation and when samples were dried at 60 deg. C for 1 h before irradiation. The studies show that stability of radiation induced EPR signals decreases in the order of: paraffin covered > heated before irradiation > kept at room conditions. The two EPR spectra in the Q-band--one with radiation dependent intensity and a second due to Mn 2+ , which is radiation independent allow identification of previous radiation treatment based on the fact that Mn 2+ quantity in the sample is constant whereas the quantity of radiation-induced free radicals is temperature dependent. It was found that for irradiated samples the ratio between EPR intensity of the free radicals and that of Mn 2+ before and after heating decreases with 50-60% whereas for non-irradiated samples it is ca. 10-15%

Generalized Energy-Dependent Q Values for Fission

Energy Technology Data Exchange (ETDEWEB)

Vogt, R

2010-03-31

We extend Madland's parameterization of the energy release in fission to obtain the dependence of the fission Q value for major and minor actinides on the incident neutron energies in the range 0 {le} E{sub n} {le} 20 MeV. Our parameterization is based on the actinide evaluations recommended for the ENDF/B-VII.1 release. This paper describes the calculation of energydependent fission Q values based on the calculation of the prompt energy release in fission by Madland. This calculation was adopted for use in the LLNL ENDL database and then generalized to obtain the prompt fission energy release for all actinides. Here the calculation is further generalized to the total energy release in fission. There are several stages in a fission event, depending on the time scale. Neutrons and gammas may be emitted at any time during the fission event.While our discussion here is focussed on compound nucleus creation by an incident neutron, similar parameterizations could be obtained for incident gammas or spontaneous fission.

Distinct functions of human RecQ helicases during DNA replication

Czech Academy of Sciences Publication Activity Database

Urban, Václav; Dobrovolná, Jana; Janščák, Pavel

2017-01-01

Roč. 225, červen (2017), s. 20-26 ISSN 0301-4622 R&D Projects: GA ČR(CZ) GA14-05743S; GA MŠk LH14037 Institutional support: RVO:68378050 Keywords : DNA replication * Replication stress * RecQ helicases * Genomic instability * Cancer Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Biochemistry and molecular biology Impact factor: 2.402, year: 2016

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

Directory of Open Access Journals (Sweden)

Novelli Antonio

2009-11-01

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

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

Science.gov (United States)

Bernardini, Laura; Gimelli, Stefania; Gervasini, Cristina; Carella, Massimo; Baban, Anwar; Frontino, Giada; Barbano, Giancarlo; Divizia, Maria Teresa; Fedele, Luigi; Novelli, Antonio; Béna, Frédérique; Lalatta, Faustina; Miozzo, Monica; Dallapiccola, Bruno

2009-11-04

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

Seroepidemiological survey of Q fever and brucellosis in Kurdistan Province, western Iran.

Science.gov (United States)

Esmaeili, Saber; Pourhossein, Behzad; Gouya, Mohammad Mehdi; Amiri, Fahimeh Bagheri; Mostafavi, Ehsan

2014-01-01

Given that the there is little information about the current status of brucellosis and Q fever in most parts of Iran, the aim of this study was to assay the seroprevalence of these two diseases in high-risk populations of Kurdistan Province in western Iran. Two hundred fifty sera samples were collected from hunters and their families, butchers, health care workers, and those referred to medical diagnostic laboratories in the southwestern regions of Kurdistan Province. Sera were tested to detect specific immunoglobulin G (IgG) antibodies against brucellosis and Coxiella burnetii (phase I and II). The seroprevalence of brucellosis and Q fever (C. burnetii IgG phase I and II) was 6.4% and 27.83% (20% and 14.52%), respectively. The highest seroprevalence of Q fever (38%) and brucellosis (12%) was seen in butchers, who handled cattle, sheep, and goats during their work. Age had a significant positive association with Q fever seropositivity (p=0.04). The seroprevalence of Q fever was higher in those people who had been in employment for more than 10 years (21.88%) compared to others (7.79%) (p=0.02). The keeping of animals (p=0.03), hunting and eating the meat of wild animals (p=0.02), and not disinfecting hands and faces after working (for health care workers and butchers) (p=0.02) were risk factors for Q fever seropositivity. This study showed a relatively high seroprevalence of brucellosis and Q fever in high-risk populations of Kurdistan Province. It is suggested that complementary studies be carried out in other parts of western Iran to clarify the epidemiological aspects of these diseases.

On sums of q-independent SU[sub q](2) quantum variables

Energy Technology Data Exchange (ETDEWEB)

Lenczewski, R. (Politechnika Wroclawska, Wroclaw (Poland). Hugo Steinhaus Center for Stochastic Methods)

1993-05-01

A representation-free approach to the q-analog of the quantum central limit theorem for C=SU[sub 1](2) is presented. It is shown that for certain functions [phi][epsilon]-C* one can derive a version of a quantum central limit theorem (qclt) with [radical][N] as a scaling parameter, which may be viewed as a q-analog of qclt. (orig.).

Microstructure and mechanical changes induced by Q-Switched pulse laser on human enamel with aim of caries prevention

Science.gov (United States)

Apsari, R.; Pratomo, D. A.; Hikmawati, D.; Bidin, N.

2016-03-01

This study was conducted to determine the effect of Q-Switched Nd: YAG laser energy dose to human enamel caries. The specifications of Q-Switched Nd: YAG laser as followed: wavelength of 1064 nm and 6 ns pulse width. Caries enamel samples taken from human teeth molars of 17-35 ages and the type of media caries. Energy doses used in this study were 723.65 mJ/cm2, 767.72 mJ/cm2, and 1065.515 mJ/cm2; 5 Hz repetition rate, and 20 second exposure time. Samples characterized the surface morphology and the percentage of constituent elements, especially calcium/phosphorus (Ca/P) with FESEM-EDAX. The fraction volume and crystallinity percentage of hydroxyapatite (HA) with XRD and hardness value using Vickers Microhardness Test. The results indicated that exposure of Q-Switched Nd:YAG laser on enamel caries resulting cracks, holes, and melt due to plasma production effects in the surface. Plasma production effect also resulted in micro properties such as percentage of Ca/P was close to normal, the fraction volume and crystallinity percentage of HA went up but did not change the crystal structure (in terms of the lattice structure). The hardness value also rose as linear as exposure energy dose caused by phototermal effect. Based on the results, Q-Switched Nd:YAG laser can be used as contactless drill dental caries replacement candidate with the additional therapy effect such as localized caries in order to avoid the spread, the ratio of Ca/P approaching healthy teeth, the fraction volume and crystallinity percentage of HA rose and established stronger teeth with peak energy dose 1065.515 mJ/cm2.

X Q TANG

Indian Academy of Sciences (India)

Home; Journals; Bulletin of Materials Science. X Q TANG. Articles written in Bulletin of Materials Science. Volume 41 Issue 2 April 2018 pp 51. Effect of oxygen vacancies on Li-storage of anatase TiO 2 (001) facets: a first principles study · H CHEN Y H DING X Q TANG W ZHANG J R YIN P ZHANG Y JIANG · More Details ...

Integrable Equations of the Form qt=L1(x,t,q,qx,qxx)qxxx+L2(x,t,q,qx,qxx)

International Nuclear Information System (INIS)

Satir, Ahmet

2003-01-01

Integrable equations of the form q t =L 1 (x,t,q,q x ,q xx )q xxx +L 2 (x,t,q,q x ,q xx ) are considered using linearization. A new type of integrable equations which are the generalization of the integrable equations of Fokas and Ibragimov and Shabat are given

Q-balls in flat potentials

International Nuclear Information System (INIS)

Copeland, Edmund J.; Tsumagari, Mitsuo I.

2009-01-01

We study the classical and absolute stability of Q-balls in scalar field theories with flat potentials arising in both gravity-mediated and gauge-mediated models. We show that the associated Q-matter formed in gravity-mediated potentials can be stable against decay into their own free particles as long as the coupling constant of the nonrenormalizable term is small, and that all of the possible three-dimensional Q-ball configurations are classically stable against linear fluctuations. Three-dimensional gauge-mediated Q-balls can be absolutely stable in the thin-wall limit, but are completely unstable in the thick-wall limit.

HbQ-India associated with microcytosis: An uncommon hemoglobin variant associated with a common hematologic condition

Directory of Open Access Journals (Sweden)

Amit Kumar Yadav

2010-09-01

Full Text Available HbQ-India is a rare alpha chain variant that usually presents in the heterozygous state. Normally, HbQ-India is clinically silent. It becomes symptomatic when present in association with other conditions. We report a case of HbQ-India with concomitant presence of iron deficiency anemia. A 16-year-old female presented with weakness and pallor intermittently for six years. Complete blood count showed severe microcytic hypochromic anemia. Hemoglobin electrophoresis showed a prominent band in the S,D,G region. Tests for sickling were negative. High performance liquid chromatography (HPLC showed a peak in the unknown window (4.70-4.90 min suggestive of HbQ-India. Serum iron profile was suggestive of iron deficiency anemia. Based on the above findings, a diagnosis of coexistent HbQ-India–iron deficiency anemia was made. A family study revealed the father as having moderate anemia with similar findings while the mother was normal. Abnormal hemoglobin in the patient was confirmed by molecular diagnosis.HbQ variants are the alpha globin chain variants due to structural mutations (α64 Asp→His inherited in autosomal dominant fashion. Three molecular variant types have been documented, namely HbQ-India, HbQ-Thailand and HbQ-Iran. Normally, HbQ is clinically silent. Therefore, careful screening of the samples using routine techniques like Hb electrophoresis and HPLC are needed for identification of such abnormal hemoglobin variants like HbQ-India.

THE Q/U IMAGING EXPERIMENT: POLARIZATION MEASUREMENTS OF RADIO SOURCES AT 43 AND 95 GHz

Energy Technology Data Exchange (ETDEWEB)

Huffenberger, K. M. [Department of Physics, Florida State University, P.O. Box 3064350, Tallahassee, FL 32306-4350 (United States); Araujo, D.; Zwart, J. T. L. [Department of Physics and Columbia Astrophysics Laboratory, Columbia University, New York, NY 10027 (United States); Bischoff, C.; Buder, I. [Kavli Institute for Cosmological Physics, Department of Physics, Enrico Fermi Institute, The University of Chicago, Chicago, IL 60637 (United States); Chinone, Y.; Hasegawa, M. [High Energy Accelerator Research Organization (KEK), 1-1 Oho, Tsukuba, Ibaraki 305-0801 (Japan); Cleary, K. [Cahill Center for Astronomy and Astrophysics, California Institute of Technology, 1200 E. California Blvd M/C 249-17, Pasadena, CA 91125 (United States); Kusaka, A. [Physics Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720 (United States); Monsalve, R. [School of Earth and Space Exploration, Arizona State University, 781 E. Terrace Road, Tempe, AZ 85287 (United States); Næss, S. K. [Department of Astrophysics, University of Oxford, Keble Road, Oxford, OX1 3RH (United Kingdom); Newburgh, L. B. [Dunlap Institute, University of Toronto, 50 St. George Street, Toronto, ON M5S 3H4 (Canada); Reeves, R. [CePIA, Departamento de Astronomía, Universidad de Concepción (Chile); Ruud, T. M.; Eriksen, H. K. [Institute of Theoretical Astrophysics, University of Oslo, P.O. Box 1029 Blindern, NO-0315 Oslo (Norway); Wehus, I. K.; Gaier, T. [Jet Propulsion Laboratory, California Institute of Technology, 4800 Oak Grove Drive, Pasadena, CA 91109 (United States); Dickinson, C. [Jodrell Bank Centre for Astrophysics, Alan Turing Building, School of Physics and Astronomy, The University of Manchester, Oxford Road, Manchester M13 9PL (United Kingdom); Gundersen, J. O., E-mail: huffenbe@physics.fsu.edu [Department of Physics, University of Miami, 1320 Campo Sano Drive, Coral Gables, FL 33146 (United States); Collaboration: QUIET Collaboration; and others

2015-06-10

We present polarization measurements of extragalactic radio sources observed during the cosmic microwave background polarization survey of the Q/U Imaging Experiment (QUIET), operating at 43 GHz (Q-band) and 95 GHz (W-band). We examine sources selected at 20 GHz from the public, >40 mJy catalog of the Australia Telescope (AT20G) survey. There are ∼480 such sources within QUIET’s four low-foreground survey patches, including the nearby radio galaxies Centaurus A and Pictor A. The median error on our polarized flux density measurements is 30–40 mJy per Stokes parameter. At signal-to-noise ratio > 3 significance, we detect linear polarization for seven sources in Q-band and six in W-band; only 1.3 ± 1.1 detections per frequency band are expected by chance. For sources without a detection of polarized emission, we find that half of the sources have polarization amplitudes below 90 mJy (Q-band) and 106 mJy (W-band), at 95% confidence. Finally, we compare our polarization measurements to intensity and polarization measurements of the same sources from the literature. For the four sources with WMAP and Planck intensity measurements >1 Jy, the polarization fractions are above 1% in both QUIET bands. At high significance, we compute polarization fractions as much as 10%–20% for some sources, but the effects of source variability may cut that level in half for contemporaneous comparisons. Our results indicate that simple models—ones that scale a fixed polarization fraction with frequency—are inadequate to model the behavior of these sources and their contributions to polarization maps.

Failure to thrive as primary feature in two patients with subtle chromosomal aneuploidy: Interstitial deletion 2q33

Energy Technology Data Exchange (ETDEWEB)

Grace, K.; Mulla, W.; Stump, T. [Children`s Hospital of Philadelpha, PA (United States)] [and others

1994-09-01

It is well known that patients with chromosomal aneuploidy present with multiple congenital anomalies and dysmorphia, and that they may have associated failure to thrive. However, rarely is failure to thrive the predominant presenting feature. We report two such patients. Patient 1 had a marked history of failure to thrive, (weight 50% for 5 1/2 months at 20 months, length 50% for 15 months at 20 months). Patient 2 was noted to be growth retarded at 2 months upon presenting to the hospital with respiratory symptoms (weight 50% for a newborn, length 50% for 36 weeks gestation). There was relative head sparing in both patients. Chromosome analysis in patient 1, prompted by a negative work-up for the failure to thrive, and emerging evidence of developmental delay, revealed a 46,XY,del(2)(q32.2q33) karyotype. Chromosome analysis in patient 2, done as part of a complete workup for the failure to thrive, revealed a 46,XX,del(2)(q33.2q33.2 or q33.2q33.3) karyotype. On careful examination, subtle dysmorphic features were seen. In both patients these included a long flat philtrum, thin upper lip and high arched palate. Patient 1 also had a small posterior cleft of the palate. These patients have the smallest interstitial deletions of chromosome 2 so far reported. Their deletions overlap within 2q33 although they are not identical. Review of the literature reveals 15 patients with interstitial deletions which include 2q33. Marked growth retardation is reported in 14 of these cases. Cleft palate/abnormal uvula were frequently associated. These cases illustrate the need to include high resolution chromosomal studies as part of a complete work-up for unexplained failure to thrive.

q-deformations of noncompact Lie (super-) algebras: The examples of q-deformed Lorentz, Weyl, Poincare' and (super-) conformal algebras

International Nuclear Information System (INIS)

Dobrev, V.K.

1992-01-01

We review and explain a canonical procedure for the q-deformation of the real forms G of complex Lie (super-) algebras associated with (generalized) Cartan matrices. Our procedure gives different q-deformations for the non-conjugate Cartan subalgebras of G. We give several in detail the q-deformed Lorentz and conformal (super-) algebras. The q-deformed conformal algebra contains as a subalgebra a q-deformed Poincare algebra and as Hopf subalgebras two conjugate 11-generator q-deformed Weyl algebras. The q-deformed Lorentz algebra in Hopf subalgebra of both Weyl algebras. (author). 24 refs

Simulations of Low-q Disruptions in the Compact Toroidal Hybrid Experiment

Science.gov (United States)

Howell, E. C.; Hanson, J. D.; Ennis, D. A.; Hartwell, G. J.; Maurer, D. A.

2017-10-01

Resistive MHD simulations of low-q disruptions in the Compact Toroidal Hybrid Device (CTH) are performed using the NIMROD code. CTH is a current-carrying stellarator used to study the effects of 3D shaping on MHD stability. Experimentally, it is observed that the application of 3D vacuum fields allows CTH to operate with edge safety factor less than 2.0. However, these low-q discharges often disrupt after peak current if the applied 3D fields are too weak. Nonlinear simulations are initialized using model VMEC equilibria representative of low-q discharges with weak vacuum transform. Initially a series of symmetry preserving island chains are excited at the q=6/5, 7/5, 8/5, and 9/5 rational surfaces. These island chains act as transport barriers preventing stochastic magnetic fields in the edge from penetrating into the core. As the simulation progresses, predominately m/n=3/2 and 4/3 instabilities are destabilized. As these instabilities grow to large amplitude they destroy the symmetry preserving islands leading to large regions of stochastic fields. A current spike and loss of core thermal confinement occurs when the innermost island chain (6/5) is destroyed. Work Supported by US-DOE Grant #DE-FG02-03ER54692.

Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.

Science.gov (United States)

Battaglia, A; Brothman, A R; Carey, J C

2002-09-15

An informative patient with a MCA/MR syndrome consisting of developmental delay, prenatal onset growth delay, microcephaly, distinctive face, iris coloboma, and a congenital heart defect was found, on chromosome analysis, to have the following complement: 46,XY,rec(4) dup(4p) inv(4)(p14q35.1) mat. He has a partial 4p trisomy/distal 4q deletion due to an unbalanced pericentric inversion inherited from his mother. Dup (4p) trisomy was originally described by Wilson et al. [1970: Am J Hum Genet 22:679-690] in a similar case with the same chromosome 4 inversion. To date, at least 85 cases of dup (4p) syndrome have been published, mostly due to unbalanced translocations. Recent articles suggest that the phenotype is hard to recognize clinically due to the lack of specificity of findings. In contrast, 4p trisomy due to an unbalanced pericentric inversion of chromosome 4(p14q35), i.e., the recombinant 4 syndrome observed in our patient, appears to be a discrete entity with relatively consistent features. In total there are four other kindreds described in the literature with this inversion, and the phenotype seems recognizable. Thus, we suggest that recombinant 4 syndrome is a discrete entity among 4p trisomy patients. Copyright 2002 Wiley-Liss, Inc.

Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21

DEFF Research Database (Denmark)

McGinniss, M J; Kazazian, H H; Stetten, G

1992-01-01

We studied the mechanism of ring chromosome 21 (r(21)) formation in 13 patients (11 unique r(21)s), consisting of 7 from five families with familial r(21) and 6 with de novo r(21). The copy number of chromosome 21 sequences in the rings of these patients was determined by quantitative dosage......), resulting in deletion of varying amounts of 21q22.1 to 21qter. The data from one individual who had a Down syndrome phenotype were consistent with asymmetric breakage and reunion of 21q sequences from an intermediate isochromosome or Robertsonian translocation chromosome as reported by Wong et al. Another......). The phenotype of patients correlated well with the extent of deletion or duplication of chromosome 21 sequences. These data demonstrate three mechanisms of r(21) formation and show that the phenotype of r(21) patients varies with the extent of chromosome 21 monosomy or trisomy....

Computed tomographic brain scan findings in Q fever encephalitis

Energy Technology Data Exchange (ETDEWEB)

Gomez Aranda, F.; Romero Acebal, M.; Maestre Moreno, J.; Pachon Diaz, J.; Lopez Cortes, L.; Navarro Rodriguez, A.

1984-07-01

Neurological involvement in Q Fever is unusual. We present a case of encephalitis due to Coxiella Burnetii with neuroradiologic findings on CT not described previously, consisting in areas of decreased absorption coefficient in the subcortical white matter of both hemispheres, predominantly in the right. Differential diagnosis must be established from viral encephalitis, of similar clinical presentation, which may show similar CT lesions to those in this case.

Chromosome 15q overgrowth syndrome: Prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15(q26.2q26.3

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2011-09-01

Conclusion: The present case provides evidence for prenatal overgrowth, craniosynostosis, and characteristic facial dysmorphism in association with a duplication of 15q26.2→q26.3 and a duplication of the IGF1R gene. Prenatal diagnosis of fetal overgrowth should include a differential diagnosis of the chromosome 15q overgrowth syndrome.

A Q-band two-beam cryogenic receiver for the Tianma Radio Telescope

Science.gov (United States)

Zhong, Wei-Ye; Dong, Jian; Gou, Wei; Yu, Lin-Feng; Wang, Jin-Qing; Xia, Bo; Jiang, Wu; Liu, Cong; Zhang, Hui; Shi, Jun; Yin, Xiao-Xing; Shi, Sheng-Cai; Liu, Qing-Hui; Shen, Zhi-Qiang

2018-04-01

A Q-band two-beam cryogenic receiver for the Tianma Radio Telescope (TMRT) has been developed, and it uses the independently-developed key microwave and millimeter-wave components operating from 35 to 50GHz with a fractional bandwidth of 35%. The Q-band receiver consists of three parts: optics, cold unit assembly and warm unit assembly, and it can receive simultaneously the left-handed and right-handed circularly polarized waves. The cold unit assembly of each beam is composed of a feed horn, a noise injection coupler, a differential phase shifter, an orthomode transducer and two low-noise amplifiers, and it works at a temperature range near 20 K to greatly improve the detection sensitivity of the receiving system. The warm unit assembly includes four radio-frequency amplifiers, four radio-frequency high-pass filters, four waveguide biased mixers, four 4–12 GHz intermediate-frequency amplifiers and one 31–38 GHz frequency synthesizer. The measured Q-band four-channel receiver noise temperatures are roughly 30–40 K. In addition, the single-dish spectral line and international very long baseline interferometry (VLBI) observations between the TMRT and East Asia VLBI Network at the Q-band have been successfully carried out, demonstrating the advantages of the TMRT equipped with the state-of-the-art Q-band receiver.

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

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Karine Sampaio LIMA

2014-04-01

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

qPCR-based mitochondrial DNA quantification: Influence of template DNA fragmentation on accuracy

International Nuclear Information System (INIS)

Jackson, Christopher B.; Gallati, Sabina; Schaller, André

2012-01-01

Highlights: ► Serial qPCR accurately determines fragmentation state of any given DNA sample. ► Serial qPCR demonstrates different preservation of the nuclear and mitochondrial genome. ► Serial qPCR provides a diagnostic tool to validate the integrity of bioptic material. ► Serial qPCR excludes degradation-induced erroneous quantification. -- Abstract: Real-time PCR (qPCR) is the method of choice for quantification of mitochondrial DNA (mtDNA) by relative comparison of a nuclear to a mitochondrial locus. Quantitative abnormal mtDNA content is indicative of mitochondrial disorders and mostly confines in a tissue-specific manner. Thus handling of degradation-prone bioptic material is inevitable. We established a serial qPCR assay based on increasing amplicon size to measure degradation status of any DNA sample. Using this approach we can exclude erroneous mtDNA quantification due to degraded samples (e.g. long post-exicision time, autolytic processus, freeze–thaw cycles) and ensure abnormal DNA content measurements (e.g. depletion) in non-degraded patient material. By preparation of degraded DNA under controlled conditions using sonification and DNaseI digestion we show that erroneous quantification is due to the different preservation qualities of the nuclear and the mitochondrial genome. This disparate degradation of the two genomes results in over- or underestimation of mtDNA copy number in degraded samples. Moreover, as analysis of defined archival tissue would allow to precise the molecular pathomechanism of mitochondrial disorders presenting with abnormal mtDNA content, we compared fresh frozen (FF) with formalin-fixed paraffin-embedded (FFPE) skeletal muscle tissue of the same sample. By extrapolation of measured decay constants for nuclear DNA (λ nDNA ) and mtDNA (λ mtDNA ) we present an approach to possibly correct measurements in degraded samples in the future. To our knowledge this is the first time different degradation impact of the two

qPCR-based mitochondrial DNA quantification: Influence of template DNA fragmentation on accuracy

Energy Technology Data Exchange (ETDEWEB)

Jackson, Christopher B., E-mail: Christopher.jackson@insel.ch [Division of Human Genetics, Departements of Pediatrics and Clinical Research, Inselspital, University of Berne, Freiburgstrasse, CH-3010 Berne (Switzerland); Gallati, Sabina, E-mail: sabina.gallati@insel.ch [Division of Human Genetics, Departements of Pediatrics and Clinical Research, Inselspital, University of Berne, Freiburgstrasse, CH-3010 Berne (Switzerland); Schaller, Andre, E-mail: andre.schaller@insel.ch [Division of Human Genetics, Departements of Pediatrics and Clinical Research, Inselspital, University of Berne, Freiburgstrasse, CH-3010 Berne (Switzerland)

2012-07-06

Highlights: Black-Right-Pointing-Pointer Serial qPCR accurately determines fragmentation state of any given DNA sample. Black-Right-Pointing-Pointer Serial qPCR demonstrates different preservation of the nuclear and mitochondrial genome. Black-Right-Pointing-Pointer Serial qPCR provides a diagnostic tool to validate the integrity of bioptic material. Black-Right-Pointing-Pointer Serial qPCR excludes degradation-induced erroneous quantification. -- Abstract: Real-time PCR (qPCR) is the method of choice for quantification of mitochondrial DNA (mtDNA) by relative comparison of a nuclear to a mitochondrial locus. Quantitative abnormal mtDNA content is indicative of mitochondrial disorders and mostly confines in a tissue-specific manner. Thus handling of degradation-prone bioptic material is inevitable. We established a serial qPCR assay based on increasing amplicon size to measure degradation status of any DNA sample. Using this approach we can exclude erroneous mtDNA quantification due to degraded samples (e.g. long post-exicision time, autolytic processus, freeze-thaw cycles) and ensure abnormal DNA content measurements (e.g. depletion) in non-degraded patient material. By preparation of degraded DNA under controlled conditions using sonification and DNaseI digestion we show that erroneous quantification is due to the different preservation qualities of the nuclear and the mitochondrial genome. This disparate degradation of the two genomes results in over- or underestimation of mtDNA copy number in degraded samples. Moreover, as analysis of defined archival tissue would allow to precise the molecular pathomechanism of mitochondrial disorders presenting with abnormal mtDNA content, we compared fresh frozen (FF) with formalin-fixed paraffin-embedded (FFPE) skeletal muscle tissue of the same sample. By extrapolation of measured decay constants for nuclear DNA ({lambda}{sub nDNA}) and mtDNA ({lambda}{sub mtDNA}) we present an approach to possibly correct measurements in

The effects of dominance, regular inbreeding and sampling design on Q(ST), an estimator of population differentiation for quantitative traits.

Science.gov (United States)

Goudet, Jérôme; Büchi, Lucie

2006-02-01

To test whether quantitative traits are under directional or homogenizing selection, it is common practice to compare population differentiation estimates at molecular markers (F(ST)) and quantitative traits (Q(ST)). If the trait is neutral and its determinism is additive, then theory predicts that Q(ST) = F(ST), while Q(ST) > F(ST) is predicted under directional selection for different local optima, and Q(ST) sampling designs and find that it is always best to sample many populations (>20) with few families (five) rather than few populations with many families. Provided that estimates of Q(ST) are derived from individuals originating from many populations, we conclude that the pattern Q(ST) > F(ST), and hence the inference of directional selection for different local optima, is robust to the effect of nonadditive gene actions.

Ceratose pilar e ulerythema ophryogenes em mulher com monossomia do braço curto do cromosomo 18 Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18

Directory of Open Access Journals (Sweden)

Charles André Carvalho

2011-08-01

Full Text Available A monossomia parcial do braço curto do cromosomo 18 (síndrome do 18p caracteriza-se, principalmente, por atraso na aquisição da fala, retardo mental leve a moderado e baixa estatura. Relatamos o caso de uma paciente com esta síndrome associada à ceratose pilar extensa e ulerythema ophryogenes. Este é o quarto relato de caso que descreve tal associação, que desperta considerável interesse porque pode revelar uma região candidata a sede de genes responsáveis pela queratinização folicularPartial monosomy of the short arm of chromosome 18 (18p- syndrome is characterized mainly by speech delay, mild to moderate mental retardation and short stature. We describe a patient with the 18psyndrome and widespread severe keratosis pilaris and ulerythema ophryogenes. This is the fourth case in which such an association has been reported. This association is of considerable interest because it may uncover a candidate genomic region and help to identify the gene responsible for follicular keratinization

Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.

Science.gov (United States)

Ousley, Opal; Evans, A Nichole; Fernandez-Carriba, Samuel; Smearman, Erica L; Rockers, Kimberly; Morrier, Michael J; Evans, David W; Coleman, Karlene; Cubells, Joseph

2017-05-18

22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults ( n = 56) with 22q11.2DS, who were ascertained irrespective of parents' behavioral or developmental concerns, and found that 17.9% ( n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.