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Sample records for q2 q3 q4

  1. Q3/Q4 2016 Solar Industry Update

    SciTech Connect

    Feldman, David; Boff, Daniel; Margolis, Robert

    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.

  2. Q3/Q4 2017 Solar Industry Update

    SciTech Connect

    Feldman, David J.; Hoskins, Jack; Margolis, Robert M.

    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.

  3. A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features

    PubMed Central

    Petrova, E.; Neuner, C.; Haaf, T.; Schmid, M.; Wirbelauer, J.; Jurkutat, A.; Wermke, K.; Nanda, I.; Kunstmann, E.

    2014-01-01

    The recurrent 10q22.3q23.2 deletion with breakpoints within low copy repeats 3 and 4 is a rare genomic disorder, reported in only 13 patients to date. The phenotype is rather uncharacteristic, which makes a clinical diagnosis difficult. A phenotypic feature described in almost all patients is a delay in speech development, albeit systematic studies are still pending. In this study, we report on a boy with an LCR3/4-flanked 10q22.3q23.2 deletion exhibiting an age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate – a feature not present in any of the patients described before. Previously reported cases are reviewed, and the role of the BMPR1A gene is discussed. The phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable, so counseling the families regarding the prognosis of an affected child should be done with caution. Long-term studies of affected children are needed to delineate the natural history of this rare disorder. PMID:24550761

  4. Q2/Q3 2016 Solar Industry Update

    SciTech Connect

    Feldman, David; Boff, Daniel; Margolis, Robert

    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.

  5. Q2/Q3 2017 Solar Industry Update

    SciTech Connect

    Feldman, David J.; Hoskins, Jack; Margolis, Robert M.

    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.

  6. Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma

    PubMed Central

    Panagopoulos, Ioannis; Gorunova, Ludmila; Viset, Trond; Heim, Sverre

    2016-01-01

    We present an angiofibroma of soft tissue with the karyotype 46,XY,t(4;5)(q24;q31),t(5;8;17)(p15;q13;q21) [8]/46,XY,t(1;14)(p31;q32)[2]/46,XY[3]. RNA-sequencing showed that the t(4;5)(q24;q31) resulted in recombination of the genes TBCK on 4q24 and P4HA2 on 5q31.1 with generation of an in-frame TBCK-P4HA2 and the reciprocal but out-of-frame P4HA2-TBCK fusion transcripts. The putative TBCK-P4HA2 protein would contain the kinase, the rhodanese-like domain, and the Tre-2/Bub2/Cdc16 (TBC) domains of TBCK together with the P4HA2 protein which is a component of the prolyl 4-hydroxylase. The t(5;8;17)(p15;q13;q21) three-way chromosomal translocation targeted AHRR (on 5p15), NCOA2 (on 8q13), and ETV4 (on 17q21) generating the in-frame fusions AHRR-NCOA2 and NCOA2-ETV4 as well as an out-of-frame ETV4-AHRR transcript. In the AHRR-NCOA2 protein, the C-terminal part of AHRR is replaced by the C-terminal part of NCOA2 which contains two activation domains. The NCOA2-ETV4 protein would contain the helix-loop-helix, PAS_9 and PAS_11, CITED domains, the SRC-1 domain of NCOA2 and the ETS DNA-binding domain of ETV4. No fusion gene corresponding to t(1;14)(p31;q32) was found. Our findings indicate that, in spite of the recurrence of AHRR-NCOA2 in angiofibroma of soft tissue, additional genetic events (or fusion genes) might be required for the development of this tumor. PMID:27633981

  7. Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma.

    PubMed

    Panagopoulos, Ioannis; Gorunova, Ludmila; Viset, Trond; Heim, Sverre

    2016-11-01

    We present an angiofibroma of soft tissue with the karyotype 46,XY,t(4;5)(q24;q31),t(5;8;17)(p15;q13;q21)[8]/46,XY,t(1;14)(p31;q32)[2]/46,XY[3]. RNA‑sequencing showed that the t(4;5)(q24;q31) resulted in recombination of the genes TBCK on 4q24 and P4HA2 on 5q31.1 with generation of an in‑frame TBCK‑P4HA2 and the reciprocal but out‑of‑frame P4HA2‑TBCK fusion transcripts. The putative TBCK‑P4HA2 protein would contain the kinase, the rhodanese‑like domain, and the Tre‑2/Bub2/Cdc16 (TBC) domains of TBCK together with the P4HA2 protein which is a component of the prolyl 4‑hydroxylase. The t(5;8;17)(p15;q13;q21) three‑way chromosomal translocation targeted AHRR (on 5p15), NCOA2 (on 8q13), and ETV4 (on 17q21) generating the in‑frame fusions AHRR‑NCOA2 and NCOA2‑ETV4 as well as an out‑of‑frame ETV4‑AHRR transcript. In the AHRR‑NCOA2 protein, the C‑terminal part of AHRR is replaced by the C‑terminal part of NCOA2 which contains two activation domains. The NCOA2‑ETV4 protein would contain the helix‑loop‑helix, PAS_9 and PAS_11, CITED domains, the SRC‑1 domain of NCOA2 and the ETS DNA‑binding domain of ETV4. No fusion gene corresponding to t(1;14)(p31;q32) was found. Our findings indicate that, in spite of the recurrence of AHRR‑NCOA2 in angiofibroma of soft tissue, additional genetic events (or fusion genes) might be required for the development of this tumor.

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

    NASA Astrophysics Data System (ADS)

    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.

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

    PubMed

    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.

  10. Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings

    SciTech Connect

    Hegmann, K.M.; Spikes, A.S.; Orr-Urtreger, A.

    A genetics evaluation was requested for a 6-week-old infant with multiple congenital malformations including mild craniofacial anomalies, truncal hypotonia, hypospadias, and a ventriculoseptal defect. Blood obtained for chromosome analysis revealed an abnormal chromosome 4. Paternal chromosome analysis showed a 46,XY, inv ins (3;4)(p21.32;q25q21.2), inv(4)(p15.3q21.2) karyotype. Therefore, the proband`s chromosome 4 was the unbalanced product of this insertional translocation from the father resulting in partial monosomy 4q. Additionally, the derivative 4 had a pericentric inversion which was also seen in the father`s chromosome 4. During genetic counseling, the proband`s 2-year-old brother was evaluated. He was not felt to be abnormal inmore » appearance, but was described as having impulsive behavior. Chromosome analysis on this child revealed 46, XY, der(3) inv ins(3;4)(p21.32;q25q21.2)pat. This karyotype results in partial trisomy 4q. FISH using two-color {open_quotes}painting{close_quotes} probes for chromosomes 3 and 4 confirmed the G-banded interpretation in this family. The segregation seen in this family resulted in both reciprocal products being observed in the two children, with partial 4q monosomy showing multiple congenital anomalies, and partial 4q trisomy showing very few phenotypic abnormalities. 13 refs., 5 figs.« less

  11. Mild phenotype associated with Inv Dup 8 (q21.2-q22.3) of maternal origin

    SciTech Connect

    Tupler, R.; Pagliano, E.; Barbierato, L.

    1996-03-15

    We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q). 6 refs., 4 figs.

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

    PubMed

    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.

  13. De novo interstitial tandem duplication of chromosome 4(q21-q28)

    SciTech Connect

    Navarro, E.G.; Ramon, F.J.H.; Jimenez, R.D.

    1996-03-29

    We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q. 12 refs., 3 figs., 1 tab.

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

    PubMed

    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.

  15. Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

    PubMed

    Chen, Chih-Ping; Lin, Shuan-Pei; Lin, Chyi-Chyang; Chen, Yann-Jang; Chern, Schu-Rern; Li, Yueh-Chun; Hsieh, Lie-Jiau; Lee, Chen-Chi; Pan, Chen-Wen; Wang, Wayseen

    2006-07-15

    An 11-year-old girl presented with the phenotype of microcephaly, moderate mental retardation, motor retardation, short stature, strabismus, brachydactyly, and facial dysmorphism. She had undergone surgery for inguinal hernias. Detailed examinations of the heart and other internal organs revealed normal findings. Her karyotype was 46,XX,dup(5)(q35.2q35.3) de novo. Molecular cytogenetic analysis showed a paternally derived 5q35.2 --> q35.3 direct duplication and led to a correlation between the particular genotype and phenotype. This is the first description of a direct duplication of 5q35.2 --> q35.3. Our case represents the smallest distal duplication of chromosome 5q that is not associated with congenital heart defects. Our case also represents the smallest distal duplication of chromosome 5q that is associated with short stature and microcephaly. Mutations or deletions of the NSD1 gene, mapped to 5q35.2 --> q35.3, has been known to cause Sotos syndrome with cerebral gigantism, macrocephaly, advanced bone age and overgrowth. Our case provides evidence that the gene dosage effect of the NSD1 gene causes a reversed phenotype of microcephaly and short stature. Copyright 2006 Wiley-Liss, Inc.

  16. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy

    PubMed Central

    Moreira, Danielle P.; Griesi-Oliveira, Karina; Bossolani-Martins, Ana L.; Lourenço, Naila C. V.; Takahashi, Vanessa N. O.; da Rocha, Kátia M.; Moreira, Eloisa S.; Vadasz, Estevão; Meira, Joanna Goes Castro; Bertola, Debora; Halloran, Eoghan O’; Magalhães, Tiago R.; Fett-Conte, Agnes C.; Passos-Bueno, Maria Rita

    2014-01-01

    Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p<0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy. PMID:25255310

  17. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

    PubMed

    Moreira, Danielle P; Griesi-Oliveira, Karina; Bossolani-Martins, Ana L; Lourenço, Naila C V; Takahashi, Vanessa N O; da Rocha, Kátia M; Moreira, Eloisa S; Vadasz, Estevão; Meira, Joanna Goes Castro; Bertola, Debora; O'Halloran, Eoghan; Magalhães, Tiago R; Fett-Conte, Agnes C; Passos-Bueno, Maria Rita

    2014-01-01

    Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531). Parental origin could be determined in 8 of the affected individuals, and revealed that 4 of the CNVs represent de novo events. Based on CNV prediction analysis from genome-wide SNP arrays, the size of those CNVs ranged from 206 kb to 2.27 Mb and those at 15q11-q13 were limited to the 15q13.3 region. In addition, this analysis also revealed 6 additional CNVs in 5 out of 11 affected individuals. Finally, we observed that the combined prevalence of CNVs at 15q13.3 and 22q13 in ASD-affected individuals with epilepsy (6.4%) was higher than that in ASD-affected individuals without epilepsy (1.3%; p<0.014). Therefore, our data show that the prevalence of CNVs at 15q13.3, 16p11.2 and 22q13 in Brazilian ASD-affected individuals is comparable to that estimated for ASD-affected individuals of pure or predominant European ancestry. Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy.

  18. Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4

    PubMed Central

    Alvarado, David M.; Aferol, Hyuliya; McCall, Kevin; Huang, Jason B.; Techy, Matthew; Buchan, Jillian; Cady, Janet; Gonzales, Patrick R.; Dobbs, Matthew B.; Gurnett, Christina A.

    2010-01-01

    Clubfoot is a common musculoskeletal birth defect for which few causative genes have been identified. To identify the genes responsible for isolated clubfoot, we screened for genomic copy-number variants with the Affymetrix Genome-wide Human SNP Array 6.0. A recurrent chromosome 17q23.1q23.2 microduplication was identified in 3 of 66 probands with familial isolated clubfoot. The chromosome 17q23.1q23.2 microduplication segregated with autosomal-dominant clubfoot in all three families but with reduced penetrance. Mild short stature was common and one female had developmental hip dysplasia. Subtle skeletal abnormalities consisted of broad and shortened metatarsals and calcanei, small distal tibial epiphyses, and thickened ischia. Several skeletal features were opposite to those described in the reciprocal chromosome 17q23.1q23.2 microdeletion syndrome associated with developmental delay and cardiac and limb abnormalities. Of note, during our study, we also identified a microdeletion at the locus in a sibling pair with isolated clubfoot. The chromosome 17q23.1q23.2 region contains the T-box transcription factor TBX4, a likely target of the bicoid-related transcription factor PITX1 previously implicated in clubfoot etiology. Our result suggests that this chromosome 17q23.1q23.2 microduplication is a relatively common cause of familial isolated clubfoot and provides strong evidence linking clubfoot etiology to abnormal early limb development. PMID:20598276

  19. WEC-SIM Validation Testing Plan FY14 Q4.

    SciTech Connect

    Ruehl, Kelley Michelle

    2016-02-01

    The WEC-Sim project is currently on track, having met both the SNL and NREL FY14 Milestones, as shown in Table 1 and Table 2. This is also reflected in the Gantt chart uploaded to the WEC-Sim SharePoint site in the FY14 Q4 Deliverables folder. The work completed in FY14 includes code verification through code-to-code comparison (FY14 Q1 and Q2), preliminary code validation through comparison to experimental data (FY14 Q2 and Q3), presentation and publication of the WEC-Sim project at OMAE 2014 [1], [2], [3] and GMREC/METS 2014 [4] (FY14 Q3), WEC-Sim code development and public open-source release (FY14 Q3), andmore » development of a preliminary WEC-Sim validation test plan (FY14 Q4). This report presents the preliminary Validation Testing Plan developed in FY14 Q4. The validation test effort started in FY14 Q4 and will go on through FY15. Thus far the team has developed a device selection method, selected a device, and placed a contract with the testing facility, established several collaborations including industry contacts, and have working ideas on the testing details such as scaling, device design, and test conditions.« less

  20. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.

    PubMed

    Chen, Chih-Ping; Chern, Schu-Rern; Lee, Chen-Chi; Lin, Chyi-Chyang; Li, Yueh-Chun; Hsieh, Lie-Jiau; Chen, Wen-Lin; Wang, Wayseen

    2006-02-01

    To present the prenatal diagnosis of a de novo complex chromosomal rearrangement (CCR) associated with de novo interstitial deletions and duplication and to review the literature. Amniocentesis was performed at 18 weeks' gestation because of an increased risk for Down syndrome based on maternal serum alpha-fetoprotein and human chorionic gonadotrophin screening. Amniocentesis revealed a karyotype of 46,XY,t(2;18;14)(q33.1;q12.2;q31.2),dup(5)(q34q34),del(7)(p21.1p21.1), del(10)(q25.3q25.3). The parental karyotypes were normal. The pregnancy was terminated. The fetus manifested facial dysmorphism, clinodactyly of both hands, and hypoplasia of the left great toe. Spectral karyotyping (SKY), cytogenetic polymorphism, and polymorphic DNA markers were used to investigate the imbalances and the origin of the de novo aberrant chromosomes. SKY showed a three-way CCR. Cytogenetic polymorphism investigation of the derivative chromosome 14 of the fetus and the parental chromosomes 14 determined the maternal origin of the translocation. Polymorphic DNA marker analysis confirmed the maternal origin of the de novo interstitial deletions and duplication. No cryptic imbalance at or near the breakpoints of the CCR was detected by the molecular analysis. De novo apparently balanced CCRs may be associated with imbalances in other chromosomes. We suggest further investigation and re-evaluation of cryptic or subtle imbalances in all cases classified as de novo apparently balanced CCRs. Copyright 2006 John Wiley & Sons, Ltd.

  1. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

    PubMed

    Alvarado, David M; Aferol, Hyuliya; McCall, Kevin; Huang, Jason B; Techy, Matthew; Buchan, Jillian; Cady, Janet; Gonzales, Patrick R; Dobbs, Matthew B; Gurnett, Christina A

    2010-07-09

    Clubfoot is a common musculoskeletal birth defect for which few causative genes have been identified. To identify the genes responsible for isolated clubfoot, we screened for genomic copy-number variants with the Affymetrix Genome-wide Human SNP Array 6.0. A recurrent chromosome 17q23.1q23.2 microduplication was identified in 3 of 66 probands with familial isolated clubfoot. The chromosome 17q23.1q23.2 microduplication segregated with autosomal-dominant clubfoot in all three families but with reduced penetrance. Mild short stature was common and one female had developmental hip dysplasia. Subtle skeletal abnormalities consisted of broad and shortened metatarsals and calcanei, small distal tibial epiphyses, and thickened ischia. Several skeletal features were opposite to those described in the reciprocal chromosome 17q23.1q23.2 microdeletion syndrome associated with developmental delay and cardiac and limb abnormalities. Of note, during our study, we also identified a microdeletion at the locus in a sibling pair with isolated clubfoot. The chromosome 17q23.1q23.2 region contains the T-box transcription factor TBX4, a likely target of the bicoid-related transcription factor PITX1 previously implicated in clubfoot etiology. Our result suggests that this chromosome 17q23.1q23.2 microduplication is a relatively common cause of familial isolated clubfoot and provides strong evidence linking clubfoot etiology to abnormal early limb development. Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  2. Analysis of Shared Haplotypes amongst Palauans Maps Loci for Psychotic Disorders to 4q28 and 5q23-q31.

    PubMed

    Bodea, Corneliu A; Middleton, Frank A; Melhem, Nadine M; Klei, Lambertus; Song, Youeun; Tiobech, Josepha; Marumoto, Pearl; Yano, Victor; Faraone, Stephen V; Roeder, Kathryn; Myles-Worsley, Marina; Devlin, Bernie; Byerley, William

    2017-02-01

    To localize genetic variation affecting risk for psychotic disorders in the population of Palau, we genotyped DNA samples from 203 Palauan individuals diagnosed with psychotic disorders, broadly defined, and 125 control subjects using a genome-wide single nucleotide polymorphism array. Palau has unique features advantageous for this study: due to its population history, Palauans are substantially interrelated; affected individuals often, but not always, cluster in families; and we have essentially complete ascertainment of affected individuals. To localize risk variants to genomic regions, we evaluated long-shared haplotypes, ≥10 Mb, identifying clusters of affected individuals who share such haplotypes. This extensive sharing, typically identical by descent, was significantly greater in cases than population controls, even after controlling for relatedness. Several regions of the genome exhibited substantial excess of shared haplotypes for affected individuals, including 3p21, 3p12, 4q28, and 5q23-q31. Two of these regions, 4q28 and 5q23-q31, showed significant linkage by traditional LOD score analysis and could harbor variants of more sizeable risk for psychosis or a multiplicity of risk variants. The pattern of haplotype sharing in 4q28 highlights PCDH10 , encoding a cadherin-related neuronal receptor, as possibly involved in risk.

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

    PubMed Central

    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

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

    PubMed

    Isles, Anthony R; Ingason, Andrés; Lowther, Chelsea; Walters, James; Gawlick, Micha; Stöber, Gerald; Rees, Elliott; Martin, Joanna; Little, Rosie B; Potter, Harry; Georgieva, Lyudmila; Pizzo, Lucilla; Ozaki, Norio; Aleksic, Branko; Kushima, Itaru; Ikeda, Masashi; Iwata, Nakao; Levinson, Douglas F; Gejman, Pablo V; Shi, Jianxin; Sanders, Alan R; Duan, Jubao; Willis, Joseph; Sisodiya, Sanjay; Costain, Gregory; Werge, Thomas M; Degenhardt, Franziska; Giegling, Ina; Rujescu, Dan; Hreidarsson, Stefan J; Saemundsen, Evald; Ahn, Joo Wook; Ogilvie, Caroline; Girirajan, Santhosh D; Stefansson, Hreinn; Stefansson, Kari; O'Donovan, Michael C; Owen, Michael J; Bassett, Anne; Kirov, George

    2016-05-01

    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

  5. Triply heavy Q Q Q ¯ q ¯ tetraquark states

    NASA Astrophysics Data System (ADS)

    Jiang, Jin-Feng; Chen, Wei; Zhu, Shi-Lin

    2017-11-01

    Within the framework of QCD sum rules, we have investigated the tetraquark states with three heavy quarks. We systematically construct the interpolating currents for the possible c c c ¯ q ¯ , c c b ¯q ¯, b c b ¯q ¯, b b b ¯q ¯ tetraquark states with quantum numbers JP=0+ and JP=1+. Using these interpolating currents, we have calculated the two-point correlation functions and extracted the mass spectra for the above tetraquark states. We also discuss the decay patterns of these tetraquarks, and notice that the c c c ¯q ¯, c c b ¯q ¯, b c b ¯q ¯ may decay quickly with a narrow width due to their mass spectra. The b b b ¯q ¯ tetraquarks are expected to be very narrow resonances since their OZI (Okubo-Zweig-Iizuka)-allowed decay modes are kinematically forbidden. These states may be searched for in the final states with a B meson plus a light meson or photon.

  6. A Novel Four-Way Complex Variant Translocation Involving Chromosome 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) in a Chronic Myeloid Leukemia Patient

    PubMed Central

    Asif, Muhammad; Jamal, Mohammad Sarwar; Khan, Abdul Rehman; Naseer, Muhammad Imran; Hussain, Abrar; Choudhry, Hani; Malik, Arif; Khan, Shahida Aziz; Mahmoud, Maged Mostafa; Ali, Ashraf; Iram, Saima; Kamran, Kashif; Iqbal, Asim; Abduljaleel, Zainularifeen; Pushparaj, Peter Natesan; Rasool, Mahmood

    2016-01-01

    Philadelphia (Ph) chromosome (9;22)(q34;q11) is well established in more than 90% of chronic myeloid leukemia (CML) patients, and the remaining 5–8% of CML patients show variant and complex translocations, with the involvement of third, fourth, or fifth chromosome other than 9;22. However, in very rare cases, the fourth chromosome is involved. Here, we found a novel case of four-way Ph+ chromosome translocation involving 46,XY,t(4;9;19;22)(q25:q34;p13.3;q11.2) with CML in the chronic phase. Complete blood cell count of the CML patient was carried out to obtain total leukocytes count, hemoglobin, and platelets. Fluorescence in situ hybridization technique was used for the identification of BCR–ABL fusion gene, and cytogenetic test for the confirmation of Ph (9;22)(q34;q11) and the mechanism of variant translocation in the bone marrow. The patient is successfully treated with a dose of 400 mg/day imatinib mesylate (Gleevec). We observed a significant decrease in white blood cell count of 11.7 × 109/L after 48-month follow-up. Patient started feeling better generally. There was a reduction in the swelling of the body, fatigue, and anxiety. PMID:27303656

  7. [Genetic risk of families with t(1;2)(q42;q33) GTG, RHG, QFQ, FISH].

    PubMed

    Stasiewicz-Jarocka, B; Raczkiewicz, B; Kowalczyk, D; Zawada, M; Midro, A T

    2000-10-01

    A central concept in genetic counseling is the estimation of the probability of recurrence of unfavourable pregnancy outcomes (abortion, stillbirth and birth at malformed child). In case of chromosomal changes estimates are made on basis of segregation analyses in actual pedigree. If we have a few of pedigree members than risk estimate should be performed on basis combined our data and empiric data from literature. We present individual genetic risk for carriers of unique reciprocal translocation t(1;2)(q42;q33) detected through karyotyping of the patient with miscarriage. The pedigree consisted 5 families of t(1;2)(q42;q33) carriers with 15 members of progeny was evaluated according to Stene and Stengel-Rutkowski. Cytogenetic analysis of persons of these families (7 persons) was performed on blood samples using GTG, RHG, QFQ and FISH techniques. Additional RCT pedigree analysis of Stengel-Rutkowski et at Collection, Polish Collection, Lituanian Collection, Bielorussian Collection and an available literature cases were performed. The translocation was classified as translocation at risk for double segment imbalances for trisomy 1q42-->qter together with monosomy 2q33-->qter or monosomy 1q42-->qter together with trisomy 2q33-->qter after 2:2 disjunction after adjacent-1 segregation of the meiotic chromosomes. Two improved risk values for RCT with segments 1q42-->qter, 2q33-->qter were obtained i.e. 6/44 (13.6% +/- 5.2%) and 4/20 (20% +/- 8.9%). The probability of occurrence for this translocation carriers was estimated as 7% (medium risk). On basis of direct analysis at presented pedigree a risk for miscarriage was estimated as 2/9. 1. Carrierships of t(1;2)(q42;q33) increased population risk value for unbalanced progeny at birth by 7% (medium risk) and for miscarriage 2/9. 2. Causative relation between presence of t(1;2)(q42;q33) and miscarriages is suggested. 3. Updated, new genetic risk values for RCT at risk for single segment 1q42-->qter imbalance is 6/44 (13

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

    PubMed

    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.

  9. [Acute myeloid leukemia with monosomy 7 and inv(3)(q21q26.2) complicated with central diabetes insipidus].

    PubMed

    Nanno, Satoru; Hagihara, Kiyoyuki; Sakabe, Manami; Okamura, Hiroshi; Inaba, Akiko; Nagata, Yuki; Nishimoto, Mitsutaka; Koh, Hideo; Nakao, Yoshitaka; Nakane, Takahiko; Nakamae, Hirohisa; Shimono, Taro; Hino, Masayuki

    2013-04-01

    A 20-year-old female presented with thirst, polyposia, and polyuria and was referred to our hospital because of leukocytosis and anemia. Bone marrow aspiration revealed 66.8% myeloperoxidase-positive blasts and trilineage myelodysplasia. The karyotype was 45, XX, inv(3)(q21q26.2), -7[19]. Therefore, a diagnosis of AML with inv(3)(q21q26.2) complicated by -7 was made. Moreover, hyposthenuria and a low anti-diuretic hormone (ADH) level were observed. Although cerebrospinal fluid analysis was normal, magnetic resonance imaging (MRI) revealed the absence of hyperintensity in the neurohypophysis in T1-weighted images. Therefore, she was also diagnosed with diabetes insipidus. After she was administered a desmopressin nasal spray, the volume of urine produced decreased. Following treatment with second induction therapy containing high-dose cytarabine for AML, she achieved complete remission in the bone marrow. Moreover, when the abnormality on MRI and the volume of urine were normalized, she discontinued desmopressin. Although diabetes insipidus is a rare complication of AML, the majority of AML patients who have diabetes insipidus have the abnormal karyotypes with inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and monosomy 7. Further study is required to clarify the pathogenesis and develop a strategy for the treatment of this category of AML.

  10. Q4 2017/Q1 2018 Solar Industry Update

    SciTech Connect

    Feldman, David J; Margolis, Robert M; Hoskins, Jack

    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.

  11. Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

    PubMed Central

    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

  12. 40 CFR Table 1 to Subpart Q of... - General Provisions Applicability to Subpart Q

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... Subpart Q 1 Table 1 to Subpart Q of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY.... 63, Subpt. Q, Table 1 Table 1 to Subpart Q of Part 63—General Provisions Applicability to Subpart Q Reference Applies to Subpart Q Comment 63.1 Yes 63.2 Yes 63.3 No 63.4 Yes 63.5 No 63.6 (a), (b), (c), and (j...

  13. 40 CFR Table 1 to Subpart Q of... - General Provisions Applicability to Subpart Q

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... Subpart Q 1 Table 1 to Subpart Q of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY.... 63, Subpt. Q, Table 1 Table 1 to Subpart Q of Part 63—General Provisions Applicability to Subpart Q Reference Applies to Subpart Q Comment 63.1 Yes 63.2 Yes 63.3 No 63.4 Yes 63.5 No 63.6 (a), (b), (c), and (j...

  14. 40 CFR Table 1 to Subpart Q of... - General Provisions Applicability to Subpart Q

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... Subpart Q 1 Table 1 to Subpart Q of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY.... 63, Subpt. Q, Table 1 Table 1 to Subpart Q of Part 63—General Provisions Applicability to Subpart Q Reference Applies to Subpart Q Comment 63.1 Yes 63.2 Yes 63.3 No 63.4 Yes 63.5 No 63.6 (a), (b), (c), and (j...

  15. 40 CFR Table 1 to Subpart Q of... - General Provisions Applicability to Subpart Q

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... Subpart Q 1 Table 1 to Subpart Q of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY.... 63, Subpt. Q, Table 1 Table 1 to Subpart Q of Part 63—General Provisions Applicability to Subpart Q Reference Applies to Subpart Q Comment 63.1 Yes 63.2 Yes 63.3 No 63.4 Yes 63.5 No 63.6 (a), (b), (c), and (j...

  16. 40 CFR Table 1 to Subpart Q of... - General Provisions Applicability to Subpart Q

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... Subpart Q 1 Table 1 to Subpart Q of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY.... 63, Subpt. Q, Table 1 Table 1 to Subpart Q of Part 63—General Provisions Applicability to Subpart Q Reference Applies to Subpart Q Comment 63.1 Yes 63.2 Yes 63.3 No 63.4 Yes 63.5 No 63.6 (a), (b), (c), and (j...

  17. Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

    PubMed

    Kuroda, Yukiko; Ohashi, Ikuko; Saito, Toshiyuki; Nagai, Jun-ichi; Ida, Kazumi; Naruto, Takuya; Iai, Mizue; Kurosawa, Kenji

    2014-08-01

    Kuechler et al. [2011] reported five patients with interstitial deletions in 8q22.2-q22.3 who had intellectual disability, epilepsy, and dysmorphic features. We report on a new patient with the smallest overlapping de novo deletion in 8q22.3 and refined the phenotype. The proposita was an 8-year-old girl, who developed seizures at 10 months, and her epileptic seizure became severe and difficult to control with antiepileptic drugs. She also exhibited developmental delay and walked alone at 24 months. She was referred to us for evaluation for developmental delay and epilepsy at the age of 8 years. She had intellectual disability (IQ 37 at 7 years) and autistic behavior, and spoke two word sentences at 8 years. She had mild dysmorphic features, including telecanthus and thick vermilion of the lips. Array comparative genomic hybridization detected a 1.36 Mb deletion in 8q22.3 that encompassed RRM2B and NCALD, which encode the small subunit of p53-inducible ribonucleotide reductase and neurocalcin delta in the neuronal calcium sensor family of calcium-binding proteins, respectively. The minimum overlapping region between the present and previously reported patients is considered to be a critical region for the phenotype of the deletion in 8q22.3. We suggest that the deletion in 8q22.3 may represent a clinically recognizable condition, which is characterized by intellectual disability and epilepsy. © 2014 Wiley Periodicals, Inc.

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

    NASA Astrophysics Data System (ADS)

    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.

  19. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

    PubMed

    Salviati, Leonardo; Trevisson, Eva; Rodriguez Hernandez, Maria Angeles; Casarin, Alberto; Pertegato, Vanessa; Doimo, Mara; Cassina, Matteo; Agosto, Caterina; Desbats, Maria Andrea; Sartori, Geppo; Sacconi, Sabrina; Memo, Luigi; Zuffardi, Orsetta; Artuch, Rafael; Quinzii, Catarina; Dimauro, Salvatore; Hirano, Michio; Santos-Ocaña, Carlos; Navas, Plácido

    2012-03-01

    COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q(10) (CoQ(10)). A 3.9 Mb deletion of chromosome 9q34.13 was identified in a 3-year-old boy with mental retardation, encephalomyopathy and dysmorphic features. Because the deletion encompassed COQ4, the patient was screened for CoQ(10) deficiency. A complete molecular and biochemical characterisation of the patient's fibroblasts and of a yeast model were performed. The study found reduced COQ4 expression (48% of controls), CoQ(10) content and biosynthetic rate (44% and 43% of controls), and activities of respiratory chain complex II+III. Cells displayed a growth defect that was corrected by the addition of CoQ(10) to the culture medium. Knockdown of COQ4 in HeLa cells also resulted in a reduction of CoQ(10.) Diploid yeast haploinsufficient for COQ4 displayed similar CoQ deficiency. Haploinsufficency of other genes involved in CoQ(10) biosynthesis does not cause CoQ deficiency, underscoring the critical role of COQ4. Oral CoQ(10) supplementation resulted in a significant improvement of neuromuscular symptoms, which reappeared after supplementation was temporarily discontinued. Mutations of COQ4 should be searched for in patients with CoQ(10) deficiency and encephalomyopathy; patients with genomic rearrangements involving COQ4 should be screened for CoQ(10) deficiency, as they could benefit from supplementation.

  20. Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.

    PubMed

    Copping, Nycole A; Christian, Sarah G B; Ritter, Dylan J; Islam, M Saharul; Buscher, Nathalie; Zolkowska, Dorota; Pride, Michael C; Berg, Elizabeth L; LaSalle, Janine M; Ellegood, Jacob; Lerch, Jason P; Reiter, Lawrence T; Silverman, Jill L; Dindot, Scott V

    2017-10-15

    Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the 15q11.2-q13.3 region, overexpression of the ubiquitin-protein E3A ligase (UBE3A) gene is thought to be the predominant molecular cause of the phenotypes observed in Dup15q syndrome. The UBE3A gene demonstrates maternal-specific expression in neurons and loss of maternal UBE3A causes Angelman syndrome, a neurodevelopmental disorder with some overlapping neurological features to Dup15q. To directly test the hypothesis that overexpression of UBE3A is an important underlying molecular cause of neurodevelopmental dysfunction, we developed and characterized a mouse overexpressing Ube3a isoform 2 in excitatory neurons. Ube3a isoform 2 is conserved between mouse and human and known to play key roles in neuronal function. Transgenic mice overexpressing Ube3a isoform 2 in excitatory forebrain neurons exhibited increased anxiety-like behaviors, learning impairments, and reduced seizure thresholds. However, these transgenic mice displayed normal social approach, social interactions, and repetitive motor stereotypies that are relevant to ASD. Reduced forebrain, hippocampus, striatum, amygdala, and cortical volume were also observed. Altogether, these findings show neuronal overexpression of Ube3a isoform 2 causes phenotypes translatable to neurodevelopmental disorders. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  1. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.

    PubMed

    Devillard, Françoise; Guinchat, Vincent; Moreno-De-Luca, Daniel; Tabet, Anne-Claude; Gruchy, Nicolas; Guillem, Pascale; Nguyen Morel, Marie-Ange; Leporrier, Nathalie; Leboyer, Marion; Jouk, Pierre-Simon; Lespinasse, James; Betancur, Catalina

    2010-09-01

    We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The inversion in the child appeared to be cytogenetically balanced but subtelomere FISH revealed a cryptic deletion at the 2q37.3 breakpoint. High-resolution single nucleotide polymorphism array confirmed the presence of a 3.5 Mb deletion that extended to the telomere, and showed a 4.2 Mb duplication at 2q14.1q14.2. FISH studies using a 2q14.2 probe showed that the duplicated segment was located at the telomeric end of chromosome 2q. This recombinant probably resulted from breakage of a dicentric chromosome. The child had autism, mental retardation, speech and language delay, hyperactivity, growth retardation with growth hormone deficiency, insulin-dependent diabetes, and mild facial dysmorphism. Most of these features have been previously described in individuals with simple terminal deletion of 2q37. Pure duplications of the proximal chromosome 2q are rare and no specific syndrome has been defined yet, so the contribution of the 2q14.1q14.2 duplication to the phenotype of the patient is unknown. These findings underscore the need to explore apparently balanced chromosomal rearrangements inherited from a phenotypically normal parent in subjects with autism and/or developmental delay. In addition, they provide further evidence indicating that chromosome 2q terminal deletions are among the most frequently reported cytogenetic abnormalities in individuals with autism.

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

    NASA Astrophysics Data System (ADS)

    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.

  3. Chromosome 3p12.3-p14.2 and 3q26.2-q26.32 are genomic markers for prognosis of advanced nasopharyngeal carcinoma.

    PubMed

    Sheu, Jim Jinn-Chyuan; Lee, Chia-Huei; Ko, Jenq-Yuh; Tsao, George S W; Wu, Chung-Chun; Fang, Chih-Yeu; Tsai, Fuu-Jen; Hua, Chun-Hung; Chen, Chi-Long; Chen, Jen-Yang

    2009-10-01

    Nasopharyngeal carcinoma is an epithelial malignancy with a remarkable racial and geographic distribution. Previous cytogenetic studies have shown nasopharyngeal carcinoma to be characterized by gross genomic aberrations. However, identification of susceptible gene loci in advanced nasopharyngeal carcinoma has been poorly discussed. A genome-wide survey of gene copy number changes was initiated with two nasopharyngeal carcinoma cell lines by array-based comparative genomic hybridization analysis. These alterations were confirmed by a parallel analysis with the data from the gene expression microarray and were validated by quantitative PCR. Clinical association of the defined target genes was analyzed by fluorescence in situ hybridization on 48 metastatic tumors. A high percentage of genes were consistently altered in dosage and expression levels with gain on 3q26.2-q26.32 and losses on 3p12.3-p14.2 and 9p21.3-p23. Six candidate genes, GPR160 (3q26.2-q27), SKIL (3q26), ADAMTS9 (3p14.2-p14.3), LRIG1 (3p14), MPDZ (9p22-p24), and ADFP (9p22.1) were validated by quantitative PCR. Fluorescence in situ hybridization studies revealed amplification of GPR160 (in 25% of cases) and SKIL (33%); and deletion of ADAMTS9 (30%), LRIG1 (35%), MPDZ (15%), and ADFP (15%). Clinical association analyses indicated a poor survival rate with genetic alterations at the defined 3p deletion (P = 0.0012) and the 3q amplification regions (P = 0.0114). The combined microarray technologies suggested novel candidate oncogenes, amplification of GPR160 and SKIL at 3q26.2-q26.32, and deletion of tumor suppressor genes ADAMTS9 and LRIG1 at 3p12.3-p14.2. Altered expression of these genes may be responsible for malignant progression and could be used as potential markers for nasopharyngeal carcinoma.

  4. q-bosons and the q-analogue quantized field

    NASA Technical Reports Server (NTRS)

    Nelson, Charles A.

    1995-01-01

    The q-analogue coherent states are used to identify physical signatures for the presence of a 1-analogue quantized radiation field in the q-CS classical limits where the absolute value of 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/absolute value of z) when q = 1. However, for the number operator, N, and the N-Hamiltonian for a free q-boson gas, H(sub N) = h(omega)(N + 1/2), the fractional uncertainties do still approach zero. A signature for q-boson counting statistics is that (Delta N)(exp 2)/ (N) approaches 0 as the absolute value of z approaches infinity. Except for its O(1) fractional uncertainty, the q-generalization of the Hermitian phase operator of Pegg and Barnett, phi(sub q), still exhibits normal classical behavior. The standard number-phase uncertainty-relation, Delta(N) Delta phi(sub q) = 1/2, and the approximate commutation relation, (N, phi(sub q)) = i, still hold for the single-mode q-analogue quantized field. So, N and phi(sub q) are almost canonically conjugate operators in the q-CS classical limit. The q-analogue CS's minimize this uncertainty relation for moderate (absolute value of z)(exp 2).

  5. Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27).

    PubMed

    Chen, H; Tyrkus, M; Cohen, F; Woolley, P V; Mayeda, K; Bhogaonker, A; Espirtu, C E; Simpson, W

    1976-06-01

    Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6) (q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with downward slanting palpebral fissures, flattened nasal bridge with anteverted and flared nares, long philtrum, high arched palate, partially opened and protruding mouth with receding chin, deep transverse creases of the ears, three creases on the 4th fingers, clinodactyly of the 5th fingers with a single crease, and other dermatoglyphic findings. These characteristic features of two patients appear to make partial trisomy 6q a clinically recognizable syndrome.

  6. Measurement of the Proton Spin Structure Function g1(x,Q2) for Q2 from 0.15 to 1.6 GeV2 with CLAS

    NASA Astrophysics Data System (ADS)

    Fatemi, R.; Skabelin, A. V.; Burkert, V. D.; Crabb, D.; Vita, R. De; Kuhn, S. E.; Minehart, R.; Adams, G.; Anciant, E.; Anghinolfi, M.; Asavapibhop, B.; Audit, G.; Auger, T.; Avakian, H.; Bagdasaryan, H.; Ball, J. P.; Barrow, S.; Battaglieri, M.; Beard, K.; Bektasoglu, M.; Bellis, M.; Bertozzi, W.; Bianchi, N.; Biselli, A. S.; Boiarinov, S.; Bonner, B. E.; Bosted, P. E.; Bouchigny, S.; Bradford, R.; Branford, D.; Brooks, W. K.; Butuceanu, C.; Calarco, J. R.; Carman, D. S.; Carnahan, B.; Cetina, C.; Ciciani, L.; Clark, R.; Cole, P. L.; Coleman, A.; Connelly, J.; Cords, D.; Corvisiero, P.; Crannell, H.; Cummings, J. P.; de Sanctis, E.; Degtyarenko, P. V.; Denizli, H.; Dennis, L.; Dharmawardane, K. V.; Dhuga, K. S.; Djalali, C.; Dodge, G. E.; Doughty, D.; Dragovitsch, P.; Dugger, M.; Dytman, S.; Eckhause, M.; Egiyan, H.; Egiyan, K. S.; Elouadrhiri, L.; Empl, A.; Eugenio, P.; Farhi, L.; Feuerbach, R. J.; Freyberger, A.; Ficenec, J.; Forest, T. A.; Frolov, V.; Funsten, H.; Gaff, S. J.; Garçon, M.; Gavalian, G.; Gilad, S.; Gilfoyle, G. P.; Giovanetti, K. L.; Girard, P.; Gordon, C. I.; Griffioen, K. A.; Guidal, M.; Guillo, M.; Guo, L.; Gyurjyan, V.; Hadjidakis, C.; Hancock, D.; Hardie, J.; Heddle, D.; Heimberg, P.; Hersman, F. W.; Hicks, K.; Hicks, R. S.; Holtrop, M.; Hu, J.; Hyde-Wright, C. E.; Ilieva, Y.; Ito, M. M.; Jenkins, D.; Joo, K.; Keith, C.; Kelley, J. H.; Kellie, J. D.; Khandaker, M.; Kim, K. Y.; Kim, K.; Kim, W.; Klein, A.; Klein, F. J.; Klimenko, A. V.; Klusman, M.; Kossov, M.; Koubarovski, V.; Kramer, L. H.; Kuang, Y.; Kuhn, J.; Lachniet, J.; Laget, J. M.; Lawrence, D.; Li, Ji; Livingston, K.; Longhi, A.; Lukashin, K.; Major, W.; Manak, J. J.; Marchand, C.; McAleer, S.; McNabb, J. W.; Mecking, B. A.; Mehrabyan, S.; Mestayer, M. D.; Meyer, C. A.; Mikhailov, K.; Mirazita, M.; Miskimen, R.; Morand, L.; Morrow, S. A.; Muccifora, V.; Mueller, J.; Mutchler, G. S.; Napolitano, J.; Nasseripour, R.; Nelson, S. O.; Niccolai, S.; Niculescu, G.; Niculescu, I.; Niczyporuk, B. B.; Niyazov, R. A.; Nozar, M.; O'Brien, J. T.; O'Rielly, G. V.; Osipenko, M.; Park, K.; Pasyuk, E.; Peterson, G.; Pivnyuk, N.; Pocanic, D.; Pogorelko, O.; Polli, E.; Pozdniakov, S.; Preedom, B. M.; Price, J. W.; Prok, Y.; Protopopescu, D.; Qin, L. M.; Raue, B. A.; Riccardi, G.; Ricco, G.; Ripani, M.; Ritchie, B. G.; Rock, S. E.; Ronchetti, F.; Rossi, P.; Rowntree, D.; Rubin, P. D.; Sabatié, F.; Sabourov, K.; Salgado, C.; Santoro, J. P.; Sapunenko, V.; Sargsyan, M.; Schumacher, R. A.; Seely, M.; Serov, V. S.; Sharabian, Y. G.; Shaw, J.; Simionatto, S.; Smith, E. S.; Smith, T.; Smith, L. C.; Sober, D. I.; Sorrel, L.; Spraker, M.; Stavinsky, A.; Stepanyan, S.; Stoler, P.; Strauch, S.; Taiuti, M.; Taylor, S.; Tedeschi, D. J.; Thoma, U.; Thompson, R.; Todor, L.; Tur, C.; Ungaro, M.; Vineyard, M. F.; Vlassov, A. V.; Wang, K.; Weinstein, L. B.; Weller, H.; Weygand, D. P.; Whisnant, C. S.; Wolin, E.; Wood, M. H.; Yegneswaran, A.; Yun, J.; Zhang, B.; Zhao, J.; Zhou, Z.

    2003-11-01

    Double-polarization asymmetries for inclusive ep scattering were measured at Jefferson Lab using 2.6 and 4.3GeV longitudinally polarized electrons incident on a longitudinally polarized NH3 target in the CLAS detector. The polarized structure function g1(x,Q2) was extracted throughout the nucleon resonance region and into the deep inelastic regime, for Q2=0.15 1.64 GeV2. The contributions to the first moment Γ1(Q2)=∫g1(x,Q2) dx were determined up to Q2=1.2 GeV2. Using a parametrization for g1 in the unmeasured low x regions, the complete first moment was estimated over this Q2 region. A rapid change in Γ1 is observed for Q2<1 GeV2, with a sign change near Q2=0.3 GeV2, indicating dominant contributions from the resonance region. At Q2=1.2 GeV2 our data are below the perturbative QCD evolved scaling value.

  7. Asymptotic 3-loop heavy flavor corrections to the charged current structure functions FLW+-W-(x ,Q2) and F2W+-W-(x ,Q2)

    NASA Astrophysics Data System (ADS)

    Behring, A.; Blümlein, J.; Falcioni, G.; De Freitas, A.; von Manteuffel, A.; Schneider, C.

    2016-12-01

    We derive the massive Wilson coefficients for the heavy flavor contributions to the nonsinglet charged current deep-inelastic scattering structure functions FLW+(x ,Q2)-FLW-(x ,Q2) and F2W+(x ,Q2)-F2W-(x ,Q2) in the asymptotic region Q2≫m2 to 3-loop order in quantum chromodynamics at general values of the Mellin variable N and the momentum fraction x . Besides the heavy quark pair production, also the single heavy flavor excitation s →c contributes. Numerical results are presented for the charm quark contributions, and consequences on the unpolarized Bjorken sum rule and Adler sum rule are discussed.

  8. A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).

    PubMed

    Peterson, Jess F; Basel, Donald G; Bick, David P; Chirempes, Brett; Lorier, Rachel B; Zemlicka, Nykula; Grignon, John W; Weik, LuAnn; Kappes, Ulrike

    2018-03-01

    We report a 19-year-old female patient with a history of short stature, primary ovarian insufficiency, sensorineural hearing loss, sacral teratoma, neurogenic bladder, and intellectual disability with underlying mosaicism for der(X)t(X;3)(q13.2;q25.33), a ring X chromosome, and monosomy X. Derivative X chromosomes from unbalanced X-autosomal translocations are preferentially silenced by the XIST gene (Xq13.2) located within the X-inactivation center. The unbalanced X-autosomal translocation in our case resulted in loss of the XIST gene thus precluding the inactivation of the derivative X chromosome. As a result, clinical features of functional disomy Xp, Turner's syndrome, and duplication 3q syndrome were observed. Importantly, indications of the derivative X chromosome were revealed by microarray analysis following an initial diagnosis of Turner's syndrome made by conventional cytogenetic studies approximately 18 months earlier. This case demonstrates the importance of utilizing microarray analysis as a first-line test in patients with clinical features beyond the scope of a well-defined genetic syndrome.

  9. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

    SciTech Connect

    Greger, V.; Knoll, J.H.M.; Wagstaff, J.

    1997-03-01

    Angelman syndrome (AS) most frequently results from large ({ge}5 Mb) de novo deletions of chromosome 15q11-q13. The deletions are exclusively of maternal origin, and a few cases of paternal uniparental disomy of chromosome 15 have been reported. The latter finding indicates that AS is caused by the absence of a maternal contribution to the imprinted 15q11-q13 region. Failure to inherit a paternal 15q11-q13 contribution results in the clinically distinct disorder of Prader-Willi syndrome. Cases of AS resulting from translocations or pericentric inversions have been observed to be associated with deletions, and there have been no confirmed reports of balanced rearrangementsmore » in AS. We report the first such case involving a paracentric inversion with a breakpoint located {approximately}25 kb proximal to the reference marker D15S10. This inversion has been inherited from a phenotypically normal mother. No deletion is evident by molecular analysis in this case, by use of cloned fragments mapped to within {approximately}1 kb of the inversion breakpoint. Several hypotheses are discussed to explain the relationship between the inversion and the AS phenotype. 47 refs., 3 figs.« less

  10. Active Duty-U.S. Army Noise Induced Hearing Injury Quarterly Surveillance Q3 2007 thru Q4 2009

    DTIC Science & Technology

    2014-05-11

    years (CY) Q3 2007-Q4 2009 shows incident case rates for sensorineural hearing loss (SNHL), significant threshold shift (STS), tinnitus , and Noise-Induced...Prev Med. 2010;38(1S):S71-S77. Humes LE, Jollenbeck LM, Durch JS. Noise and military service: Implications for hearing loss and tinnitus . Washington...threshold shift 79415 NONSPECIFIC ABNORMAL AUDITORY FUNCTION STUDIES TINN Tinnitus 38830 TINNITUS UNSPECIFIED TINN Tinnitus 38831 SUBJECTIVE TINNITUS

  11. Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III

    SciTech Connect

    Takano, Takako; Yamanouchi, Yasuko; Mori, Yosuke

    We report on a 12-month-old Japanese boy with an interstitial deletion of the long-arm of chromosome 1 and meningomyelocele, hydrocephalus, anal atresia, atrial septal defect, left renal agenesis, bilateral cryptorchidism, talipes equinovarus, low birth weight, growth/developmental retardation, and many minor anomalies. By conventional GTG-banding, his karyotype was first interpreted as 46,XY,de1(1)(q23q24), but it was corrected as 46,XY.ish del(1)(q24q25.3) by fluorescence in situ hybridization using 11 known cosmid clones as probes. His serum levels of apolipoprotein A-II (gene symbol: APOA2, previously assigned to 1q21-q23) and coagulation factor V (F5, 1q21-q25) were normal, while serum concentration and activity of antithrombin III (AT3,more » 1q23-q25.1) was low. The results indicated that localization of APOA2 and F5 are proximal to the deleted region and AT3 is located within the deletion extent in the patient. 16 refs., 4 figs.« less

  12. Supersymmetric Q-balls: A numerical study

    SciTech Connect

    Campanelli, L.; INFN--Sezione di Ferrara, I-44100 Ferrara; Ruggieri, M.

    2008-02-15

    We study numerically a class of nontopological solitons, the Q-balls, arising in a supersymmetric extension of the standard model with low-energy, gauge-mediated symmetry breaking. Taking into account the exact form of the supersymmetric potential giving rise to Q-balls, we find that there is a lower limit on the value of the charge Q in order to make them classically stable: Q > or approx. 5x10{sup 2}Q{sub cr}, where Q{sub cr} is constant depending on the parameters defining the potential and can be in the range 1 < or approx. Q{sub cr} < or approx. 10{sup 8} {sup divide} {sup 16}.more » If Q is the baryon number, stability with respect to the decay into protons requires Q > or approx. 10{sup 17}Q{sub cr}, while if the gravitino mass is greater then m{sub 3/2} > or approx. 61 MeV, no stable gauge-mediation supersymmetric Q-balls exist. Finally, we find that energy and radius of Q-balls can be parametrized as E{approx}{xi}{sub E}Q{sup 3/4} and R{approx}{xi}{sub R}Q{sup 1/4}, where {xi}{sub E} and {xi}{sub R} are slowly varying functions of the charge.« less

  13. The q-harmonic oscillators, q-coherent states and the q-symplecton

    NASA Technical Reports Server (NTRS)

    Biedenharn, L. C.; Lohe, M. A.; Nomura, Masao

    1993-01-01

    The recently introduced notion of a quantum group is discussed conceptually and then related to deformed harmonic oscillators ('q-harmonic oscillators'). Two developments in applying q-harmonic oscillators are reviewed: q-coherent states and the q-symplecton.

  14. Heavy-flavored tetraquark states with the Q Q Q ¯ Q ¯ configuration

    NASA Astrophysics Data System (ADS)

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

    2018-05-01

    In the framework of the color-magnetic interaction, we systematically investigate the mass spectrum of the tetraquark states composed of four heavy quarks with the Q Q Q ¯Q ¯ configuration in this work. We also show their strong decay patterns. Stable or narrow states in the b b b ¯c ¯ and b c b ¯c ¯ systems are found to be possible. We hope the studies shall be helpful to the experimental search for heavy-full exotic tetraquark states.

  15. Regional chromosomal localisation of APOA2 to 1q21-1q23.

    PubMed

    Middleton-Price, H R; van den Berghe, J A; Scott, J; Knott, T J; Malcolm, S

    1988-07-01

    Using in situ hybridisation, we have mapped APOA2 to the 1q21-1q23 region of chromosome 1. DNA hybridisation to somatic cell hybrids made from cells carrying a balanced translocation between X and 1 confirms the localisation as proximal to 1q23. This was further confirmed by the presence of two polymorphic alleles in a cell line carrying a deletion of 1q25-1q32.

  16. Q2-EVOLUTION of ΔNγ Form Factors up to 4 (GEV/C)2 from Jlab Data

    NASA Astrophysics Data System (ADS)

    Aznauryan, I. G.

    2002-12-01

    We present the results on the ratios E(3/2)1+/M(3/2)1+ and S(3/2)1+/M(3/2)1+ for the γ*N → Δ(1232) transition at Q24 (GeV/c)2 extracted from the p(e,e'p)π0 cross section using two approaches: dispersion relations and modified version of unitary isobar model. The obtained results are in good agreement with the results of other analyses obtained using truncated multipole expansion at Q2 = 0.4, 0.525, 0.65, 0.75, 0.9, 1.15, 1.45, 1.8 (GeV/c)2 and within dynamical and unitary isobar models at Q2 = 2.8, 4 (GeV/c)2. According to obtained results the ratio E(3/2)1+/M(3/2)1+ remains small in all investigated region of Q2 with very unclear tendency to cross zero above 2 (GeV/c)2. The absolute value of the ratio S(3/2)1+/M(3/2)1+ is clearly increasing with increasing Q2, while it should be a constant value in the pQCD asymptotics. So, at Q24 (GeV/c)2 there is no evidence of approaching pQCD regime for these ratios. None of the soft approaches gives satisfactory description of the obtained results.

  17. Mapping of the 3q27 region involved in Dup(3q) syndrome

    SciTech Connect

    Rizzu, P.; Baldini, A.; Overhauser, J.

    1994-09-01

    The duplication 3q syndrome is characterized by partial trisomy of a segment of the long arm of chromosome 3. We have previously found that 3q26.3-3q27 is the minimal region of trisomy overlap. This critical region (CR) is delimited by two patient chromosome breakpoints, approximately 10 cM apart. In order to identify the gene(s) responsible for the Dup(3q) phenotype, we are generating a physical map of the region and identifying expressed sequences. First, we have generated a cytological map using two- and three-color fluorescence in situ hybridization on metaphase and interphase chromosomes. Results allowed us to determine the centromere-telomere orientation, ordermore » and relative distances of six cosmid clones mapped to the CR. Because some of the markers used are part of the consensus chromosome 3 map, our data were easily integrated with existing mapping information. Subsequently, we have included in the map YAC clones positive for polymorphic PCR markers identified by CEPH-Genethon, as well as newly isolated YACs. We have assigned them to the critical region 7 of the Genethon polymorphic markers and linked them to three YAC contigs. Currently our map includes two of the five genes known to map in this region. Interestingly, we found that these two functionally related genes (kininogen and histidin-rich glycoprotein) map to the same 1 Mb genomic fragment. As the physical map is being constructed we are searching for expressed sequences. Positive cDNAs have been found and their characterization is in progress. In conclusion, we will present an integrated map of 3q27 that includes genetic, physical and cytological information as well as gene annotation. As Dup(3q) syndrome is likely to be a contiguous gene syndrome, such a map will be necessary for our understanding of this multiple congenital anomaly.« less

  18. Heavy-Quark Symmetry Implies Stable Heavy Tetraquark Mesons Q i Q j q ¯ k q ¯ l

    SciTech Connect

    Eichten, Estia J.; Quigg, Chris

    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 iQqq l (subscripts label flavors), where q designates a light quark. By evaluating finite-mass corrections, we predict that double-beauty states composed of bb¯u¯d, bb¯u¯s, and bb¯d¯s will be stable against strong decays, whereas the double-charm states cc¯qq l, mixed beauty+charm states bc¯qq l, and heavier bb¯qk¯ql states will dissociate into pairs of heavy-light mesons. Furthermore, observation of a new double-beauty state through its weak decays would establish the existence of tetraquarks andmore » illuminate the role of heavy color-antitriplet diquarks as hadron constituents.« less

  19. Heavy-Quark Symmetry Implies Stable Heavy Tetraquark Mesons Q i Q j q ¯ k q ¯ l

    DOE PAGES

    Eichten, Estia J.; Quigg, Chris

    2017-11-15

    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 iQqq l (subscripts label flavors), where q designates a light quark. By evaluating finite-mass corrections, we predict that double-beauty states composed of bb¯u¯d, bb¯u¯s, and bb¯d¯s will be stable against strong decays, whereas the double-charm states cc¯qq l, mixed beauty+charm states bc¯qq l, and heavier bb¯qk¯ql states will dissociate into pairs of heavy-light mesons. Furthermore, observation of a new double-beauty state through its weak decays would establish the existence of tetraquarks andmore » illuminate the role of heavy color-antitriplet diquarks as hadron constituents.« less

  20. Q2 Evolution of the Neutron Spin Structure Moments using a 3He Target

    NASA Astrophysics Data System (ADS)

    Amarian, M.; Auerbach, L.; Averett, T.; Berthot, J.; Bertin, P.; Bertozzi, B.; Black, T.; Brash, E.; Brown, D.; Burtin, E.; Calarco, J.; Cates, G.; Chai, Z.; Chen, J.-P.; Choi, Seonho; Chudakov, E.; Cisbani, E.; de Jager, C. W.; Deur, A.; Disalvo, R.; Dieterich, S.; Djawotho, P.; Finn, M.; Fissum, K.; Fonvieille, H.; Frullani, S.; Gao, H.; Gao, J.; Garibaldi, F.; Gasparian, A.; Gilad, S.; Gilman, R.; Glamazdin, A.; Glashausser, C.; Goldberg, E.; Gomez, J.; Gorbenko, V.; Hansen, J.-O.; Hersman, B.; Holmes, R.; Huber, G. M.; Hughes, E.; Humensky, B.; Incerti, S.; Iodice, M.; Jensen, S.; Jiang, X.; Jones, C.; Jones, G.; Jones, M.; Jutier, C.; Ketikyan, A.; Kominis, I.; Korsch, W.; Kramer, K.; Kumar, K.; Kumbartzki, G.; Kuss, M.; Lakuriqi, E.; Laveissiere, G.; Lerose, J.; Liang, M.; Liyanage, N.; Lolos, G.; Malov, S.; Marroncle, J.; McCormick, K.; McKeown, R.; Meziani, Z.-E.; Michaels, R.; Mitchell, J.; Papandreou, Z.; Pavlin, T.; Petratos, G. G.; Pripstein, D.; Prout, D.; Ransome, R.; Roblin, Y.; Rowntree, D.; Rvachev, M.; Sabatie, F.; Saha, A.; Slifer, K.; Souder, P.; Saito, T.; Strauch, S.; Suleiman, R.; Takahashi, K.; Teijiro, S.; Todor, L.; Tsubota, H.; Ueno, H.; Urciuoli, G.; van der Meer, R.; Vernin, P.; Voskanian, H.; Wojtsekhowski, B.; Xiong, F.; Xu, W.; Yang, J.-C.; Zhang, B.; Zolnierczuk, P.

    2004-01-01

    We have measured the spin structure functions g1 and g2 of 3He in a double-spin experiment by inclusively scattering polarized electrons at energies ranging from 0.862 to 5.058GeV off a polarized 3He target at a 15.5° scattering angle. Excitation energies covered the resonance and the onset of the deep inelastic regions. We have determined for the first time the Q2 evolution of Γ1(Q2)=∫10g1(x,Q2)dx, Γ2(Q2)=∫10g2(x,Q2)dx, and d2(Q2)=∫10x2[2g1(x,Q2)+3g2(x,Q2)]dx for the neutron in the range 0.1≤Q2≤0.9 GeV2 with good precision. Γ1(Q2) displays a smooth variation from high to low Q2. The Burkhardt-Cottingham sum rule holds within uncertainties and d2 is nonzero over the measured range.

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

    PubMed Central

    2010-01-01

    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. PMID:20565924

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

    PubMed

    Delorme, Richard; Moreno-De-Luca, Daniel; Gennetier, Aurélie; Maier, Wolfgang; Chaste, Pauline; Mössner, Rainald; Grabe, Hans Jörgen; Ruhrmann, Stephan; Falkai, Peter; Mouren, Marie-Christine; Leboyer, Marion; Wagner, Michael; Betancur, Catalina

    2010-06-21

    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. 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). No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients. 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.

  3. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.

    PubMed

    Leu, Costin; de Kovel, Carolien G F; Zara, Federico; Striano, Pasquale; Pezzella, Marianna; Robbiano, Angela; Bianchi, Amedeo; Bisulli, Francesca; Coppola, Antonietta; Giallonardo, Anna Teresa; Beccaria, Francesca; Trenité, Dorothée Kasteleijn-Nolst; Lindhout, Dick; Gaus, Verena; Schmitz, Bettina; Janz, Dieter; Weber, Yvonne G; Becker, Felicitas; Lerche, Holger; Kleefuss-Lie, Ailing A; Hallman, Kerstin; Kunz, Wolfram S; Elger, Christian E; Muhle, Hiltrud; Stephani, Ulrich; Møller, Rikke S; Hjalgrim, Helle; Mullen, Saul; Scheffer, Ingrid E; Berkovic, Samuel F; Everett, Kate V; Gardiner, Mark R; Marini, Carla; Guerrini, Renzo; Lehesjoki, Anna-Elina; Siren, Auli; Nabbout, Rima; Baulac, Stephanie; Leguern, Eric; Serratosa, Jose M; Rosenow, Felix; Feucht, Martha; Unterberger, Iris; Covanis, Athanasios; Suls, Arvid; Weckhuysen, Sarah; Kaneva, Radka; Caglayan, Hande; Turkdogan, Dilsad; Baykan, Betul; Bebek, Nerses; Ozbek, Ugur; Hempelmann, Anne; Schulz, Herbert; Rüschendorf, Franz; Trucks, Holger; Nürnberg, Peter; Avanzini, Giuliano; Koeleman, Bobby P C; Sander, Thomas

    2012-02-01

    Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure type-related genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively. Meta-analysis of three genome-wide linkage datasets was carried out in 379 GGE-multiplex families of European ancestry including 982 relatives with GGEs. To dissect out seizure type-related susceptibility genes, two family subgroups were stratified comprising 235 families with predominantly genetic absence epilepsies (GAEs) and 118 families with an aggregation of juvenile myoclonic epilepsy (JME). To map shared and seizure type-related susceptibility loci, both nonparametric loci (NPL) and parametric linkage analyses were performed for a broad trait model (GGEs) in the entire set of GGE-multiplex families and a narrow trait model (typical absence or myoclonic seizures) in the subgroups of JME and GAE families. For the entire set of 379 GGE-multiplex families, linkage analysis revealed six loci achieving suggestive evidence for linkage at 1p36.22, 3p14.2, 5q34, 13q12.12, 13q31.3, and 19q13.42. The linkage finding at 5q34 was consistently supported by both NPL and parametric linkage results across all three family groups. A genome-wide significant nonparametric logarithm of odds score of 3.43 was obtained at 2q34 in 118 JME families. Significant parametric linkage to 13q31.3 was found in 235 GAE families assuming recessive inheritance (heterogeneity logarithm of odds = 5.02). Our linkage results support an oligogenic predisposition of familial GGE syndromes. The genetic risk factor at 5q34 confers risk to a broad spectrum of familial GGE syndromes, whereas susceptibility loci at 2q34 and 13q31.3

  4. CHARGE association in a child with de novo inv dup (14)(q22{yields}q24.3)

    SciTech Connect

    North, K.; Wu, B.L.; Whiteman, D.

    1994-09-01

    The CHARGE association is an increasingly recognized complex of multiple malformations, that include Coloboma, Heart defect, choanal Atresia, Retardation of mental and somatic development, hypoplastic Genitalia, and Ear abnormalities or deafness. It has been postulated that many of the defects result from abnormalities in the development, migration or interaction of cells of the cephalic neural crest. The majority of cases are sporadic. We report a case of an inverted duplication (14)(q22{yields}q24.3) associated with CHARGE association. The patient was a 4 {1/2}-year-old female and was the product of a normal pregnancy. Family history was unremarkable. The clinical manifestations included the combinationmore » of congenital anomalies (coloboma, ventricular septal defect, severe developmental delay and growth retardation, genital hypoplasia and sensorineural deafness) in association with soft tissue choanal atresia, dysphagia, and minor dysmorphic features (low set ears, upslanting palpebral fissures). High resolution cytogenetic studies revealed that the child has 46,XX,inv dup(14)(q22{yields}q24.3) and parents have normal chromosomes. FISH with a chromosome 14 paint probe confirmed that the duplicated region is entirely derived from chromosome 14. FISH with D22S75 probe for region 22q11.2 detected no deletion for this locus. Several duplications or deletions involving different chromosomes have been reported for patients with conditions resembling CHARGE association. This indicates that CHARGE is possible genetically heterogenous, parallelling the phenotypic heterogeneity of the disorder. Two published cases with unbalanced rearrengements involving 14q22 have some comparable features with our case, which suggests that the locus for a gene causing some of the features of CHARGE association may reside at 14q22 or 14q24.3.« less

  5. How does gravity save or kill Q-balls?

    SciTech Connect

    Tamaki, Takashi; Sakai, Nobuyuki; Department of Education, Yamagata University, Yamagata 990-8560

    2011-02-15

    We explore stability of gravitating Q-balls with potential V{sub 4}({phi})=(m{sup 2}/2){phi}{sup 2}-{lambda}{phi}{sup 4}+({phi}{sup 6}/M{sup 2}) via catastrophe theory, as an extension of our previous work on Q-balls with potential V{sub 3}({phi})=(m{sup 2}/2){phi}{sup 2}-{mu}{phi}{sup 3}+{lambda}{phi}{sup 4}. In flat spacetime Q-balls with V{sub 4} in the thick-wall limit are unstable and there is a minimum charge Q{sub min}, where Q-balls with Q{sub min} are nonexistent. If we take self-gravity into account, on the other hand, there exist stable Q-balls with arbitrarily small charge, no matter how weak gravity is. That is, gravity saves Q-balls with small charge. We also show how stabilitymore » of Q-balls changes as gravity becomes strong.« less

  6. Childhood-onset schizophrenia case with 2.2 Mb deletion at chromosome 3p12.2-p12.1 and two large chromosomal abnormalities at 16q22.3-q24.3 and Xq23-q28.

    PubMed

    Rudd, Danielle; Axelsen, Michael; Epping, Eric A; Andreasen, Nancy; Wassink, Thomas

    2015-04-01

    Childhood-onset schizophrenia is rare, comprising 1% of known schizophrenia cases. Here, we report a patient with childhood-onset schizophrenia who has three large chromosomal abnormalities: an inherited 2.2 Mb deletion of chromosome 3p12.2-p12.1, a de novo 16.7 Mb duplication of 16q22.3-24.3, and a de novo 43 Mb deletion of Xq23-q28.

  7. Deletion (11)(q14.1q21)

    SciTech Connect

    Stratton, R.F.; Lazarus, K.H.; Ritchie, E.J.L.

    1994-02-01

    The authors report on a 4-year-old girl with moderate development delay, horseshoe kidney, bilateral duplication of the ureters with right upper pole obstruction, hydronephrosis and nonfunction, and subsequent Wilms tumor of the right lower pole. She had an interstitial deletion of the long arm of chromosome 11 involving the region 11(q14.1q21). 22 refs., 2 figs., 1 tab.

  8. Threshold q -voter model

    NASA Astrophysics Data System (ADS)

    Vieira, Allan R.; Anteneodo, Celia

    2018-05-01

    We introduce the threshold q -voter opinion dynamics where an agent, facing a binary choice, can change its mind when at least q0 among q neighbors share the opposite opinion. Otherwise, the agent can still change its mind with a certain probability ɛ . This threshold dynamics contemplates the possibility of persuasion by an influence group even when there is not full agreement among its members. In fact, individuals can follow their peers not only when there is unanimity (q0=q ) in the lobby group, as assumed in the q -voter model, but also, depending on the circumstances, when there is simple majority (q0>q /2 ), Byzantine consensus (q0>2 q /3 ), or any minimal number q0 among q . This realistic threshold gives place to emerging collective states and phase transitions which are not observed in the standard q voter. The threshold q0, together with the stochasticity introduced by ɛ , yields a phenomenology that mimics as particular cases the q voter with stochastic drivings such as nonconformity and independence. In particular, nonconsensus majority states are possible, as well as mixed phases. Continuous and discontinuous phase transitions can occur, but also transitions from fluctuating phases into absorbing states.

  9. The complete O (αs2) non-singlet heavy flavor corrections to the structure functions g1,2ep (x ,Q2), F1,2,Lep (x ,Q2), F1,2,3ν (ν bar) (x ,Q2) and the associated sum rules

    NASA Astrophysics Data System (ADS)

    Blümlein, Johannes; Falcioni, Giulio; De Freitas, Abilio

    2016-09-01

    We calculate analytically the flavor non-singlet O (αs2) massive Wilson coefficients for the inclusive neutral current non-singlet structure functions F1,2,Lep (x ,Q2) and g1,2ep (x ,Q2) and charged current non-singlet structure functions F1,2,3ν (ν bar) p (x ,Q2), at general virtualities Q2 in the deep-inelastic region. Numerical results are presented. We illustrate the transition from low to large virtualities for these observables, which may be contrasted to basic assumptions made in the so-called variable flavor number scheme. We also derive the corresponding results for the Adler sum rule, the unpolarized and polarized Bjorken sum rules and the Gross-Llewellyn Smith sum rule. There are no logarithmic corrections at large scales Q2 and the effects of the power corrections due to the heavy quark mass are of the size of the known O (αs4) corrections in the case of the sum rules. The complete charm and bottom corrections are compared to the approach using asymptotic representations in the region Q2 ≫mc,b2. We also study the target mass corrections to the above sum rules.

  10. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

    PubMed Central

    Bayés, M; Goldaracena, B; Martínez-Mir, A; Iragui-Madoz, M I; Solans, T; Chivelet, P; Bussaglia, E; Ramos-Arroyo, M A; Baiget, M; Vilageliu, L; Balcells, S; Gonzàlez-Duarte, R; Grinberg, D

    1998-01-01

    Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disease. To date, mutations in four members of the phototransduction cascade have been implicated in ARRP. Additionally, linkage of the disease to three loci on 1p, 1q, and 6p has been described. However, the majority of cases are still uncharacterised. We have performed linkage analysis in a large nuclear ARRP family with five affected sibs. After exclusion of several regions of the genome known to contain loci for retinal dystrophies, a genomic search for linkage to ARRP was undertaken. Positive lod scores were obtained with markers on 2q31-q33 (Zmax at theta = 0.00 of 4.03, 4.12, and 4.12 at D2S364, D2S118, and D2S389, respectively) defining an interval of about 7 cM for this new ARRP locus, between D2S148 and D2S161. Forty-four out of 47 additional ARRP families, tested with markers on 2q32, failed to show linkage, providing evidence of further genetic heterogeneity. Images PMID:9507394

  11. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

    PubMed Central

    Glassford, Megan R.; Rosenfeld, Jill A.; Freedman, Alexa A.; Zwick, Michael E.

    2016-01-01

    3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. To characterize the range of phenotypic manifestations associated with 3q29 deletion syndrome, we have developed an online registry (3q29deletion.org) for ascertainment of study subjects and phenotypic data collection via Internet‐based survey instruments. We report here on data collected during the first 18 months of registry operation, from 44 patients. This is the largest cohort of 3q29 deletion carriers ever assembled and surveyed in a systematic way. Our data reveal that 28% of registry participants report neuropsychiatric phenotypes, including anxiety disorder, panic attacks, depression, bipolar disorder, and schizophrenia. Other novel findings include a high prevalence (64%) of feeding problems in infancy and reduced weight at birth for 3q29 deletion carriers (average reduction 13.9 oz (394 g), adjusted for gestational age and sex, P = 6.5e‐07). We further report on the frequency of heart defects, autism, recurrent ear infections, gastrointestinal phenotypes, and dental phenotypes, among others. We also report on the expected timing of delayed developmental milestones. This is the most comprehensive description of the 3q29 deletion phenotype to date. These results are clinically actionable toward improving patient care for 3q29 deletion carriers, and can guide the expectations of physicians and parents. These data also demonstrate the value of patient‐reported outcomes to reveal the full phenotypic spectrum of rare genomic disorders. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. PMID:26738761

  12. A 4D Hyperspherical Interpretation of q-Space

    PubMed Central

    Hosseinbor, A. Pasha; Chung, Moo K.; Wu, Yu-Chien; Bendlin, Barbara B.; Alexander, Andrew L.

    2015-01-01

    3D q-space can be viewed as the surface of a 4D hypersphere. In this paper, we seek to develop a 4D hyperspherical interpretation of q-space by projecting it onto a hypersphere and subsequently modeling the q-space signal via 4D hyperspherical harmonics (HSH). Using this orthonormal basis, we derive several well-established q-space indices and numerically estimate the diffusion orientation distribution function (dODF). We also derive the integral transform describing the relationship between the diffusion signal and propagator on a hypersphere. Most importantly, we will demonstrate that for hybrid diffusion imaging (HYDI) acquisitions low order linear expansion of the HSH basis is sufficient to characterize diffusion in neural tissue. In fact, the HSH basis achieves comparable signal and better dODF reconstructions than other well-established methods, such as Bessel Fourier orientation reconstruction (BFOR), using fewer fitting parameters. All in all, this work provides a new way of looking at q-space. PMID:25624043

  13. Translocation (3;5)(q21;q34) in erythroleukemia: a molecular and in situ hybridization study.

    PubMed

    Kwong, Y L

    1998-05-01

    Translocation (3;5) is an uncommon karyotypic aberration in acute myeloid leukemia (AML). With the exception of M3, t(3;5) has been reported in every other subtype of AML, being most frequently associated with AML M6. Although a variety of breakpoints have been described, it has been suggested that the breakpoints in t(3;5) of all the reported cases should be assigned to 3q25.1 and 5q34. Recently, the breakpoints in three pediatric cases of AML M2 with t(3;5) were cloned and shown to involve the myelodysplasia/myeloid leukemia factor I (MLF1) gene on 3q25.1 and the nucleophosmin (NPM) gene on 5q34, generating a chimeric NPM/MLF1 transcript. An adult case of indolent erythroleukemia was found on karyotypic analysis to have t(3;5)(q21;q34). In about 60% of cells, the translocation was unbalanced, resulting in loss of the der(3) chromosome, implying that the critical leukemogenic sequence might reside on the der(5) chromosome. Molecular analysis of this case, however, failed to show rearrangement of the NPM gene and an MLF1/NPM transcript. A review of other reported cases of AML M6 with t(3;5) showed that the commonest breakpoint on chromosome 3 was also assigned to 3q21, as in our case. The considerable clinical, pathologic, cytogenetic and molecular differences observed in AML with t(3;5) suggest that these cases might be heterogeneous.

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

    PubMed

    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.

  15. Constacyclic codes over the ring F_q+v{F}_q+v2F_q and their applications of constructing new non-binary quantum codes

    NASA Astrophysics Data System (ADS)

    Ma, Fanghui; Gao, Jian; Fu, Fang-Wei

    2018-06-01

    Let R={F}_q+v{F}_q+v2{F}_q be a finite non-chain ring, where q is an odd prime power and v^3=v. In this paper, we propose two methods of constructing quantum codes from (α +β v+γ v2)-constacyclic codes over R. The first one is obtained via the Gray map and the Calderbank-Shor-Steane construction from Euclidean dual-containing (α +β v+γ v2)-constacyclic codes over R. The second one is obtained via the Gray map and the Hermitian construction from Hermitian dual-containing (α +β v+γ v2)-constacyclic codes over R. As an application, some new non-binary quantum codes are obtained.

  16. Impact of Chemical Analogs of 4-Hydroxybenzoic Acid on Coenzyme Q Biosynthesis: From Inhibition to Bypass of Coenzyme Q Deficiency

    PubMed Central

    Pierrel, Fabien

    2017-01-01

    Coenzyme Q is a lipid that participates to important physiological functions. Coenzyme Q is synthesized in multiple steps from the precursor 4-hydroxybenzoic acid. Mutations in enzymes that participate to coenzyme Q biosynthesis result in primary coenzyme Q deficiency, a type of mitochondrial disease. Coenzyme Q10 supplementation of patients is the classical treatment but it shows limited efficacy in some cases. The molecular understanding of the coenzyme Q biosynthetic pathway allowed the design of experiments to bypass deficient biosynthetic steps with analogs of 4-hydroxybenzoic acid. These molecules provide the defective chemical group and can reactivate endogenous coenzyme Q biosynthesis as demonstrated recently in yeast, mammalian cell cultures, and mouse models of primary coenzyme Q deficiency. This mini review presents how the chemical properties of various analogs of 4-hydroxybenzoic acid dictate the effect of the molecules on CoQ biosynthesis and how the reactivation of endogenous coenzyme Q biosynthesis may achieve better results than exogenous CoQ10 supplementation. PMID:28690551

  17. Impact of Chemical Analogs of 4-Hydroxybenzoic Acid on Coenzyme Q Biosynthesis: From Inhibition to Bypass of Coenzyme Q Deficiency.

    PubMed

    Pierrel, Fabien

    2017-01-01

    Coenzyme Q is a lipid that participates to important physiological functions. Coenzyme Q is synthesized in multiple steps from the precursor 4-hydroxybenzoic acid. Mutations in enzymes that participate to coenzyme Q biosynthesis result in primary coenzyme Q deficiency, a type of mitochondrial disease. Coenzyme Q 10 supplementation of patients is the classical treatment but it shows limited efficacy in some cases. The molecular understanding of the coenzyme Q biosynthetic pathway allowed the design of experiments to bypass deficient biosynthetic steps with analogs of 4-hydroxybenzoic acid. These molecules provide the defective chemical group and can reactivate endogenous coenzyme Q biosynthesis as demonstrated recently in yeast, mammalian cell cultures, and mouse models of primary coenzyme Q deficiency. This mini review presents how the chemical properties of various analogs of 4-hydroxybenzoic acid dictate the effect of the molecules on CoQ biosynthesis and how the reactivation of endogenous coenzyme Q biosynthesis may achieve better results than exogenous CoQ 10 supplementation.

  18. Association of allelic loss on 1q, 4p, 7q, 9p, 9q, and 16q with postoperative death in papillary thyroid carcinoma.

    PubMed

    Kitamura, Y; Shimizu, K; Tanaka, S; Ito, K; Emi, M

    2000-05-01

    Papillary thyroid carcinomas, most of which are characterized by slow growth and good prognosis, account for the majority of thyroid carcinomas. To provide appropriate postoperative management, it is important to classify them by prediction of their prognosis. To find genetic markers associated with poor prognosis, allelic loss at all 39 nonacrocentric chromosome arms was compared in 24 deceased cases and 45 age-, sex-, stage-, and type-matched survived cases. Allelic loss was examined in primary tumors from both groups using highly polymorphic microsatellite markers on 39 nonacrocentric autosomal arms. Age at diagnosis, sex, stage, and types of tumors were matched between the two groups. No recurrent tumor was used for DNA analysis. Mean fractional allelic loss in the deceased and survived cases was 0.10+/-0.08 and 0.03+/-0.05 (P < 0.001). The survived cases showed marginal frequencies of allelic loss throughout all chromosome arms except 22q. The deceased cases showed frequent allelic losses on chromosomes 1q (37%), 4p (21%), 7q (20%), 9p (36%), 9q (31%), and 16q (29%), with significant difference (P < 0.05). These chromosome regions may include tumor suppressor genes whose inactivation is associated with aggressive phenotypes of papillary thyroid carcinoma.

  19. Neuropsychological Endophenotype Approach to Genome-wide Linkage Analysis Identifies Susceptibility Loci for ADHD on 2q21.1 and 13q12.11

    PubMed Central

    Rommelse, Nanda N.J.; Arias-Vásquez, Alejandro; Altink, Marieke E.; Buschgens, Cathelijne J.M.; Fliers, Ellen; Asherson, Philip; Faraone, Stephen V.; Buitelaar, Jan K.; Sergeant, Joseph A.; Oosterlaan, Jaap; Franke, Barbara

    2008-01-01

    ADHD linkage findings have not all been consistently replicated, suggesting that other approaches to linkage analysis in ADHD might be necessary, such as the use of (quantitative) endophenotypes (heritable traits associated with an increased risk for ADHD). Genome-wide linkage analyses were performed in the Dutch subsample of the International Multi-Center ADHD Genetics (IMAGE) study comprising 238 DSM-IV combined-type ADHD probands and their 112 affected and 195 nonaffected siblings. Eight candidate neuropsychological ADHD endophenotypes with heritabilities > 0.2 were used as quantitative traits. In addition, an overall component score of neuropsychological functioning was used. A total of 5407 autosomal single-nucleotide polymorphisms (SNPs) were used to run multipoint regression-based linkage analyses. Two significant genome-wide linkage signals were found, one for Motor Timing on chromosome 2q21.1 (LOD score: 3.944) and one for Digit Span on 13q12.11 (LOD score: 3.959). Ten suggestive linkage signals were found (LOD scores ≥ 2) on chromosomes 2p, 2q, 3p, 4q, 8q, 12p, 12q, 14q, and 17q. The suggestive linkage signal for the component score that was found at 2q14.3 (LOD score: 2.878) overlapped with the region significantly linked to Motor Timing. Endophenotype approaches may increase power to detect susceptibility loci in ADHD and possibly in other complex disorders. PMID:18599010

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

    PubMed

    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.

  1. Comparison of Q3s ATD biomechanical responses to pediatric volunteers.

    PubMed

    Ita, Meagan; Kang, Yun-Seok; Seacrist, Thomas; Dahle, Eric; Bolte, John

    2014-01-01

    The biofidelity of pediatric anthropomorphic test devices (ATDs) continues to be evaluated with scaled-down adult data, a methodology that requires inaccurate assumptions about the likeness of biomechanical properties of children and adults. Recently, evaluation of pediatric ATDs by comparison of pediatric volunteer (PV) data has emerged as a valuable and practical alternative to the use of scaled adult data. This study utilized existing PV data to evaluate a 3-year-old side impact ATD, the Q3s. Though ATDs have been compared to volunteer responses in frontal impacts, this study is the first to extend ATD-PV comparison methods to the Q3s ATD and among the first to extend these methods to side impacts. Previously conducted experiments were replicated in order to make a direct comparison between the Q3s and PVs. PV data were used from 4- to 7-year-olds (shoulder tests, n=14) and 6- to 8-year-olds (sled tests, n=7). Force-deflection data were captured during quasistatic shoulder tests through manual displacement of the shoulder joint. Resulting shoulder stiffness was compared between the Q3s and PVs. Low-speed far-side sled tests were conducted with the Q3s at lateral (90°) and oblique (60°) impacts. Primary outcomes of interest included (1) lateral displacement of the torso, (2) torso rollout angle, and (3) kinematic trajectories of the head and neck. The Q3s exhibited shoulder stiffness values at least 32 N/mm greater than the PVs for all conditions (PV muscle tensed and relaxed, deflection calculated for full- and half-thoracic). In lateral sled tests, the Q3s demonstrated increased coronal torso rollout (Q3s: 49.2°; PVs: 35.7°±12.4°) and lateral (ΔY) movement of the top of the head (Q3s: -389 mm; PVs: -320±23 mm) compared to PVs. In oblique trials, the Q3s achieved significantly decreased lateral torso displacement (Q3s: 153.3 mm; PVs: 193.6±25.6 mm) and top of the head forward (ΔX) motion (Q3s: 68 mm; PVs: 133 ± 20 mm) compared to PVs. In all tests

  2. Electronic structure and defect properties of hybrid chalcohalides Hg3Q2I2 (Q =S, Se and Te) for radiation detection

    NASA Astrophysics Data System (ADS)

    Kontsevoi, Oleg Y.; He, Yihui; Wessels, Bruce W.; Kanatzidis, Mercouri G.

    Heavy metal chalcohalides Hg3Q2I2 (Q =S, Se and Te) have shown significant promise as X-ray and γ-ray detector materials. To assess the fundamental physical properties important for their performance as detectors, theoretical calculations were performed for the electronic structure, band gaps, electron and hole effective masses, and native defect properties. The calculations were based on first-principles density functional theory (DFT) and employ the highly precise full potential linearized augmented plane wave method and the projector augmented wave method and include nonlocal exchange-correlation functionals to overcome the band gap underestimation in DFT calculations. The calculations show that Hg3Q2I2 have either indirect (Q =S, Se) or direct (Q =Te) band gaps within 1.9-2.25 range which is optimal for a detector material, and very small electron effective masses (0.19 m0 for Hg3Se2I2) which could result in a good carrier mobility-lifetime product μτ . We further investigated a large set of native defects in the most promising candidate material, Hg3Se2I2, to determine the optimal growth conditions for application as γ-ray detectors. The results suggest that the prevalent intrinsic defects are iodine vacancies, mercury vacancies, and selenium vacancies followed by antisite defects. The effect of various chemical environments on defect properties was examined and the optimal conditions for material synthesis were suggested. Supported by DHS (Grant No. 2014-DN-077-ARI086-01).

  3. A 4D hyperspherical interpretation of q-space.

    PubMed

    Pasha Hosseinbor, A; Chung, Moo K; Wu, Yu-Chien; Bendlin, Barbara B; Alexander, Andrew L

    2015-04-01

    3D q-space can be viewed as the surface of a 4D hypersphere. In this paper, we seek to develop a 4D hyperspherical interpretation of q-space by projecting it onto a hypersphere and subsequently modeling the q-space signal via 4D hyperspherical harmonics (HSH). Using this orthonormal basis, we derive several well-established q-space indices and numerically estimate the diffusion orientation distribution function (dODF). We also derive the integral transform describing the relationship between the diffusion signal and propagator on a hypersphere. Most importantly, we will demonstrate that for hybrid diffusion imaging (HYDI) acquisitions low order linear expansion of the HSH basis is sufficient to characterize diffusion in neural tissue. In fact, the HSH basis achieves comparable signal and better dODF reconstructions than other well-established methods, such as Bessel Fourier orientation reconstruction (BFOR), using fewer fitting parameters. All in all, this work provides a new way of looking at q-space. Copyright © 2014 Elsevier B.V. All rights reserved.

  4. A measurement of the proton structure function F2( x, Q2) at low x and low Q2 at HERA

    NASA Astrophysics Data System (ADS)

    Adloff, C.; Aid, S.; Anderson, M.; Andreev, V.; Andrieu, B.; Arkadov, V.; Arndt, C.; Ayyaz, I.; Babaev, A.; Bähr, J.; Bán, J.; Ban, Y.; Baranov, P.; Barrelet, E.; Barschke, R.; Bartel, W.; Bassler, U.; Beck, H. P.; Beck, M.; Behrend, H.-J.; Belousov, A.; Berger, Ch.; Bernardi, G.; Bertrand-Coremans, G.; Beyer, R.; Biddulph, P.; Bispham, P.; Bizot, J. C.; Borras, K.; Botterweck, F.; Boudry, V.; Bourov, S.; Braemer, A.; Braunschweig, W.; Brisson, V.; Brückner, W.; Bruel, P.; Bruncko, D.; Brune, C.; Buchholz, R.; Büngener, L.; Bürger, J.; Büsser, F. W.; Buniatian, A.; Burke, S.; Burton, M. J.; Buschhorn, G.; Calvet, D.; Campbell, A. J.; Carli, T.; Charlet, M.; Clarke, D.; Clerbaux, B.; Cocks, S.; Contreras, J. G.; Cormack, C.; Coughlan, J. A.; Courau, A.; Cousinou, M.-C.; Cox, B. E.; Cozzika, G.; Cussans, D. G.; Cvach, J.; Dagoret, S.; Dainton, J. B.; Dau, W. D.; Daum, K.; David, M.; Davis, C. L.; De Roeck, A.; De Wolf, E. A.; Delcourt, B.; Dirkmann, M.; Dixon, P.; Dlugosz, W.; Dollfus, C.; Donovan, K. T.; Dowell, J. D.; Dreis, H. B.; Droutskoi, A.; Ebert, J.; Ebert, T. R.; Eckerlin, G.; Efremenko, V.; Egli, S.; Eichler, R.; Eisele, F.; Eisenhandler, E.; Elsen, E.; Erdmann, M.; Fahr, A. B.; Favart, L.; Fedotov, A.; Felst, R.; Feltesse, J.; Ferencei, J.; Ferrarotto, F.; Flamm, K.; Fleischer, M.; Flieser, M.; Flügge, G.; Fomenko, A.; Formánek, J.; Foster, J. M.; Franke, G.; Gabathuler, E.; Gabathuler, K.; Gaede, F.; Garvey, J.; Gayler, J.; Gebauer, M.; Genzel, H.; Gerhards, R.; Glazov, A.; Goerlich, L.; Gogitidze, N.; Goldberg, M.; Goldner, D.; Golec-Biernat, K.; Gonzalez-Pineiro, B.; Gorelov, I.; Grab, C.; Grässler, H.; Greenshaw, T.; Griffiths, R. K.; Grindhammer, G.; Gruber, A.; Gruber, C.; Hadig, T.; Haidt, D.; Hajduk, L.; Haller, T.; Hampel, M.; Haynes, W. J.; Heinemann, B.; Heinzelmann, G.; Henderson, R. C. W.; Henschel, H.; Herynek, I.; Hess, M. F.; Hewitt, K.; Hiller, K. H.; Hilton, C. D.; Hladký, J.; Höppner, M.; Hoffmann, D.; Holtom, T.; Horisberger, R.; Hudgson, V. L.; Hütte, M.; Ibbotson, M.; İşsever, Ç.; Itterbeck, H.; Jacholkowska, A.; Jacobsson, C.; Jacquet, M.; Jaffre, M.; Janoth, J.; Jansen, D. M.; Jönsson, L.; Johnson, D. P.; Jung, H.; Kalmus, P. I. P.; Kander, M.; Kant, D.; Kathage, U.; Katzy, J.; Kaufmann, H. H.; Kaufmann, O.; Kausch, M.; Kazarian, S.; Kenyon, I. R.; Kermiche, S.; Keuker, C.; Kiesling, C.; Klein, M.; Kleinwort, C.; Knies, G.; Köhler, T.; Köhne, J. H.; Kolanoski, H.; Kolya, S. D.; Korbel, V.; Kostka, P.; Kotelnikov, S. K.; Krämerkämper, T.; Krasny, M. W.; Krehbiel, H.; Krücker, D.; Küpper, A.; Küster, H.; Kuhlen, M.; Kurča, T.; Kurzhöfer, J.; Laforge, B.; Landon, M. P. J.; Lange, W.; Langenegger, U.; Lebedev, A.; Lehner, F.; Lemaitre, V.; Levonian, S.; Lindstroem, M.; Linsel, F.; Lipinski, J.; List, B.; Lobo, G.; Lomas, J. W.; Lopez, G. C.; Lubimov, V.; Lüke, D.; Lytkin, L.; Magnussen, N.; Mahlke-Krüger, H.; Malinovski, E.; Maraček, R.; Marage, P.; Marks, J.; Marshall, R.; Martens, J.; Martin, G.; Martin, R.; Martyn, H.-U.; Martyniak, J.; Mavroidis, T.; Maxfield, S. J.; McMahon, S. J.; Mehta, A.; Meier, K.; Merkel, P.; Metlica, F.; Meyer, A.; Meyer, A.; Meyer, H.; Meyer, J.; Meyer, P.-O.; Migliori, A.; Mikocki, S.; Milstead, D.; Moeck, J.; Moreau, F.; Morris, J. V.; Mroczko, E.; Müller, D.; Walter, T.; Müller, K.; Murín, P.; Nagovizin, V.; Nahnhauer, R.; Naroska, B.; Naumann, Th.; Négri, I.; Newman, P. R.; Newton, D.; Nguyen, H. K.; Nicholls, T. C.; Niebergall, F.; Niebuhr, C.; Niedzballa, Ch.; Niggli, H.; Nowak, G.; Nunnemann, T.; Nyberg-Werther, M.; Oberlack, H.; Olsson, J. E.; Ozerov, D.; Palmen, P.; Panaro, E.; Panitch, A.; Pascaud, C.; Passaggio, S.; Patel, G. D.; Pawletta, H.; Peppel, E.; Perez, E.; Phillips, J. P.; Pieuchot, A.; Pitzl, D.; Pöschl, R.; Pope, G.; Povh, B.; Prell, S.; Rabbertz, K.; Rädel, G.; Reimer, P.; Rick, H.; Riess, S.; Rizvi, E.; Robmann, P.; Roosen, R.; Rosenbauer, K.; Rostovtsev, A.; Rouse, F.; Royon, C.; Rüter, K.; Rusakov, S.; Rybicki, K.; Sankey, D. P. C.; Schacht, P.; Schiek, S.; Schleif, S.; Schleper, P.; von Schlippe, W.; Schmidt, D.; Schmidt, G.; Schoeffel, L.; Schöning, A.; Schröder, V.; Schuhmann, E.; Schwab, B.; Sefkow, F.; Semenov, A.; Shekelyan, V.; Sheviakov, I.; Shtarkov, L. N.; Siegmon, G.; Siewert, U.; Sirois, Y.; Skillicorn, I. O.; Sloan, T.; Smirnov, P.; Smith, M.; Solochenko, V.; Soloviev, Y.; Specka, A.; Spiekermann, J.; Spielman, S.; Spitzer, H.; Squinabol, F.; Steffen, P.; Steinberg, R.; Steinhart, J.; Stella, B.; Stellberger, A.; Stier, J.; Stiewe, J.; Stöβlein, U.; Stolze, K.; Straumann, U.; Struczinski, W.; Sutton, J. P.; Tapprogge, S.; Taševský, M.; Tchernyshov, V.; Tchetchelnitski, S.; Theissen, J.; Thompson, G.; Thompson, P. D.; Tobien, N.; Todenhagen, R.; Truöl, P.; Tsipolitis, G.; Turnau, J.; Tzamariudaki, E.; Uelkes, P.; Usik, A.; Valkár, S.; Valkárová, A.; Valĺee, C.; Van Esch, P.; Van Mechelen, P.; Vandenplas, D.; Vazdik, Y.; Verrecchia, P.; Villet, G.; Wacker, K.; Wagener, A.; Wagener, M.; Wallny, R.; Waugh, B.; Weber, G.; Weber, M.; Wegener, D.; Wegner, A.; Wengler, T.; Werner, M.; West, L. R.; Wiesand, S.; Wilksen, T.; Willard, S.; Winde, M.; Winter, G.-G.; Wittek, C.; Wobisch, M.; Wollatz, H.; Wünsch, E.; Žáček, J.; Zarbock, D.; Zhang, Z.; Zhokin, A.; Zini, P.; Zomer, F.; Zsembery, J.; zurNedden, M.; H1 Collaboration

    1997-02-01

    The results of a measurement of the proton structure function F2( x, Q2) and the virtual photon-proton cross section are reported for momentum transfers squared Q2 between 0.35 GeV 2 and 3.5 GeV 2 and for Bjorken- x values down to 6 × 10 -6 using data collected by the HERA experiment H1 in 1995. The data represent an increase in kinematic reach to lower x and Q2 values of about a factor of 5 compared to previous H1 measurements. Including measurements from fixed target experiments the rise of F2 with decreasing x is found to be less steep for the lowest Q2 values measured. Phenomenological models at low Q2 are compared with the data.

  5. De novo direct duplication of chromosome segment 22q11.2-q13.1

    SciTech Connect

    Fujimoto, Atsuko; Lin, Ming S.

    Lindsay et al. [1995] reported a case of de novo duplication of the segment 22q11-q12. Molecular cytogenetics studies showed that the segment includes the regions responsible for the {open_quotes}cat eye,{close_quotes} DiGeorge, and velo-cardio-facial syndrome, and extends distal to the breakpoint cluster region. The phenotype was milder than that of complete trisomy 22 and der(22)t(11;22) (q23;q11) syndrome and was similar in type and severity to that of {open_quotes}cat eye{close_quotes} syndrome (CES). They suggested that trisomy of gene(s) responsible for the CES might have a predominant phenotypic effect over other genes present in the region duplicated in their patient. 3 refs., 2more » figs.« less

  6. Monte Carlo simulation of a dynamical fermion problem: The light q sup 2 q sup 2 system

    SciTech Connect

    Grondin, G.

    1991-01-01

    We present results from a Guided Random Walk Monte Carlo simulation of the light q{sup 2}{bar q}{sup 2} system in a Coulomb-plus-linear quark potential model using an Intel iPSC/860 hypercube. A solvable model problem is first considered, after which we study the full q{sup 2}{bar q}{sup 2} system in (J,I) = (2,2) and (2,0) sectors. We find evidence for no bound states below the vector-vector threshold in these systems. 17 refs., 6 figs.

  7. New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q.

    PubMed

    Merlob, P; Kohn, G; Litwin, A; Nissenkorn, I; Katznelson, M B; Reisner, S H

    1989-01-01

    We describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,-1,+der(1),t(1;4) (q44;q23 or 24)mat. She is the first patient with an unbalanced translocation involving chromosomes 4 and 1. There is a substantial amount of concordance between the phenotypic features of this patient and those described in the context of partial deletion 1q. The extensive duplication of 4q has no dominant clinical effects in the present infant. These facts support the general concept of much more deleterious effects of deletions versus duplications in human species.

  8. 31 CFR 30.2 - Q-2: To what entities does this part apply?

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 31 Money and Finance: Treasury 1 2011-07-01 2011-07-01 false Q-2: To what entities does this part... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply? This....4 (Q-4), § 30.5 (Q-5) and § 30.7 (Q-7), as applicable, § 30.6 (Q-6), and § 30.8 (Q-8) through § 30...

  9. 31 CFR 30.2 - Q-2: To what entities does this part apply?

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 31 Money and Finance: Treasury 1 2014-07-01 2014-07-01 false Q-2: To what entities does this part... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply? This....4 (Q-4), § 30.5 (Q-5) and § 30.7 (Q-7), as applicable, § 30.6 (Q-6), and § 30.8 (Q-8) through § 30...

  10. 31 CFR 30.2 - Q-2: To what entities does this part apply?

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 31 Money and Finance: Treasury 1 2012-07-01 2012-07-01 false Q-2: To what entities does this part... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply? This....4 (Q-4), § 30.5 (Q-5) and § 30.7 (Q-7), as applicable, § 30.6 (Q-6), and § 30.8 (Q-8) through § 30...

  11. 31 CFR 30.2 - Q-2: To what entities does this part apply?

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 31 Money and Finance: Treasury 1 2013-07-01 2013-07-01 false Q-2: To what entities does this part... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.2 Q-2: To what entities does this part apply? This....4 (Q-4), § 30.5 (Q-5) and § 30.7 (Q-7), as applicable, § 30.6 (Q-6), and § 30.8 (Q-8) through § 30...

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

    PubMed

    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.

  13. Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q)

    SciTech Connect

    Tomkins, D.J.; Waye, J.S.; Whelan, D.T.

    An 11-year-old boy was referred for chromosomal analysis because of precocious development and behavioral problems suggestive of the fragile X syndrome. The cytogenetic fragile X studies were normal, but a routine GTG-banded karyotype revealed an abnormal male karyotype with a Robertsonian translocation between the two chromosome 14`s: 46,XY,t(14q14q). Paternal karyotyping revealed another abnormal karyotype: 46,XY,t(13q14q). A brother had the same karyotype as the father; the mother was deceased. In order to determine if the apparently balanced t(14q14q) in the proband might be the cause of the clinical findings, molecular analysis of the origin of the chromosome 14`s was initiated. Southernmore » blotting and hybridization with D4S13 showed that the proband had two copies of one maternal allele which was shared by his brother. The brother`s second allele corresponded to one of the paternal alleles; the proband had no alleles from the father. Analysis of four other VNTRs demonstrated the probability of paternity to be greater than 99%. Thus, the t(14q14q) was most likely composed of two maternal chromosome 14`s. Further characterization of the t(14q14q) by dinucleotide repeat polymorphic markers is in progress to determine whether it has arisen from maternal isodisomy or heterodisomy. Several cases of uniparental disomy for chromosome 14 have been reported recently. Paternal disomy appears to be associated with more severe congenital anomalies and mental retardation, whereas maternal disomy may be associated with premature puberty and minimal intellectual impairment. The origin of the t(14q14q) in the present case may be related to the paternal translocation, as the segregation of the t(13q14q) in meiosis could lead to sperm that are nullisomic for chromosome 14.« less

  14. 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++

    NASA Astrophysics Data System (ADS)

    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++.

  15. Passively Q-switched microchip Er, Yb:YAl3(BO3)4 diode-pumped laser.

    PubMed

    Kisel, V E; Gorbachenya, K N; Yasukevich, A S; Ivashko, A M; Kuleshov, N V; Maltsev, V V; Leonyuk, N I

    2012-07-01

    We report, for the first time to our knowledge, a diode-pumped cw and passively Q-switched microchip Er, Yb:YAl(3)(BO(3))(4) laser. A maximal output power of 800 mW at 1602 nm in the cw regime was obtained at an absorbed pump power of 7.7 W. By using Co(2+):MgAl(2)O(4) as a saturable absorber, a TEM(00)-mode Q-switched average output power of 315 mW was demonstrated at 1522 nm, with pulse duration of 5 ns and pulse energy of 5.25 μJ at a repetition rate of 60 kHz.

  16. Childhood-onset schizophrenia case with 2.2 Mb deletion at chromosome 3p12.2–p12.1 and two large chromosomal abnormalities at 16q22.3q24.3 and Xq23–q28

    PubMed Central

    Rudd, Danielle; Axelsen, Michael; Epping, Eric A; Andreasen, Nancy; Wassink, Thomas

    2015-01-01

    Key Clinical Message Childhood-onset schizophrenia is rare, comprising 1% of known schizophrenia cases. Here, we report a patient with childhood-onset schizophrenia who has three large chromosomal abnormalities: an inherited 2.2 Mb deletion of chromosome 3p12.2–p12.1, a de novo 16.7 Mb duplication of 16q22.3–24.3, and a de novo 43 Mb deletion of Xq23–q28. PMID:25914809

  17. Electroexcitation of the Roper resonance for 1.7<Q2<4.5GeV2 in e→p→enπ+

    NASA Astrophysics Data System (ADS)

    Aznauryan, I. G.; Burkert, V. D.; Kim, W.; Park, K.; Adams, G.; Amaryan, M. J.; Ambrozewicz, P.; Anghinolfi, M.; Asryan, G.; Avakian, H.; Bagdasaryan, H.; Baillie, N.; Ball, J. P.; Baltzell, N. A.; Barrow, S.; Batourine, V.; Battaglieri, M.; Bedlinskiy, I.; Bektasoglu, M.; Bellis, M.; Benmouna, N.; Berman, B. L.; Biselli, A. S.; Blaszczyk, L.; Bonner, B. E.; Bookwalter, C.; Bouchigny, S.; Boiarinov, S.; Bradford, R.; Branford, D.; Briscoe, W. J.; Brooks, W. K.; Bültmann, S.; Butuceanu, C.; Calarco, J. R.; Careccia, S. L.; Carman, D. S.; Casey, L.; Cazes, A.; Chen, S.; Cheng, L.; Cole, P. L.; Collins, P.; Coltharp, P.; Cords, D.; Corvisiero, P.; Crabb, D.; Crede, V.; Cummings, J. P.; Dale, D.; Dashyan, N.; de Masi, R.; de Vita, R.; de Sanctis, E.; Degtyarenko, P. V.; Denizli, H.; Dennis, L.; Deur, A.; Dhamija, S.; Dharmawardane, K. V.; Dhuga, K. S.; Dickson, R.; Djalali, C.; Dodge, G. E.; Donnelly, J.; Doughty, D.; Dugger, M.; Dytman, S.; Dzyubak, O. P.; Egiyan, H.; Egiyan, K. S.; Fassi, L. El; Elouadrhiri, L.; Eugenio, P.; Fatemi, R.; Fedotov, G.; Feldman, G.; Feuerbach, R. J.; Forest, T. A.; Fradi, A.; Funsten, H.; Gabrielyan, M. Y.; Garçon, M.; Gavalian, G.; Gevorgyan, N.; Gilfoyle, G. P.; Giovanetti, K. L.; Girod, F. X.; Goetz, J. T.; Gohn, W.; Golovatch, E.; Gonenc, A.; Gordon, C. I. O.; Gothe, R. W.; Graham, L.; Griffioen, K. A.; Guidal, M.; Guillo, M.; Guler, N.; Guo, L.; Gyurjyan, V.; Hadjidakis, C.; Hafidi, K.; Hafnaoui, K.; Hakobyan, H.; Hakobyan, R. S.; Hanretty, C.; Hardie, J.; Hassall, N.; Heddle, D.; Hersman, F. W.; Hicks, K.; Hleiqawi, I.; Holtrop, M.; Hyde, C. E.; Ilieva, Y.; Ireland, D. G.; Ishkhanov, B. S.; Isupov, E. L.; Ito, M. M.; Jenkins, D.; Jo, H. S.; Johnstone, J. R.; Joo, K.; Juengst, H. G.; Kalantarians, N.; Keller, D.; Kellie, J. D.; Khandaker, M.; Kim, K. Y.; Klein, A.; Klein, F. J.; Klimenko, A. V.; Kossov, M.; Krahn, Z.; Kramer, L. H.; Kubarovsky, V.; Kuhn, J.; Kuhn, S. E.; Kuleshov, S. V.; Kuznetsov, V.; Lachniet, J.; Laget, J. M.; Langheinrich, J.; Lawrence, D.; Lee, T.; Li, Ji; Lima, A. C. S.; Livingston, K.; Lu, H. Y.; Lukashin, K.; MacCormick, M.; Markov, N.; Mattione, P.; McAleer, S.; McKinnon, B.; McNabb, J. W. C.; Mecking, B. A.; Mehrabyan, S.; Melone, J. J.; Mestayer, M. D.; Meyer, C. A.; Mibe, T.; Mikhailov, K.; Minehart, R.; Mirazita, M.; Miskimen, R.; Mokeev, V.; Morand, L.; Moreno, B.; Moriya, K.; Morrow, S. A.; Moteabbed, M.; Mueller, J.; Munevar, E.; Mutchler, G. S.; Nadel-Turonski, P.; Nasseripour, R.; Niccolai, S.; Niculescu, G.; Niculescu, I.; Niczyporuk, B. B.; Niroula, M. R.; Niyazov, R. A.; Nozar, M.; O'Rielly, G. V.; Osipenko, M.; Ostrovidov, A. I.; Park, S.; Pasyuk, E.; Paterson, C.; Pereira, S. Anefalos; Philips, S. A.; Pierce, J.; Pivnyuk, N.; Pocanic, D.; Pogorelko, O.; Polli, E.; Popa, I.; Pozdniakov, S.; Preedom, B. M.; Price, J. W.; Prok, Y.; Protopopescu, D.; Qin, L. M.; Raue, B. A.; Riccardi, G.; Ricco, G.; Ripani, M.; Ritchie, B. G.; Rosner, G.; Rossi, P.; Rowntree, D.; Rubin, P. D.; Sabatié, F.; Saini, M. S.; Salamanca, J.; Salgado, C.; Santoro, J. P.; Sapunenko, V.; Schott, D.; Schumacher, R. A.; Serov, V. S.; Sharabian, Y. G.; Sharov, D.; Shaw, J.; Shvedunov, N. V.; Skabelin, A. V.; Smith, E. S.; Smith, L. C.; Sober, D. I.; Sokhan, D.; Stavinsky, A.; Stepanyan, S. S.; Stepanyan, S.; Stokes, B. E.; Stoler, P.; Strakovsky, I. I.; Strauch, S.; Suleiman, R.; Taiuti, M.; Takeuchi, T.; Tedeschi, D. J.; Tkabladze, A.; Tkachenko, S.; Todor, L.; Tur, C.; Ungaro, M.; Vineyard, M. F.; Vlassov, A. V.; Watts, D. P.; Weinstein, L. B.; Weygand, D. P.; Williams, M.; Wolin, E.; Wood, M. H.; Yegneswaran, A.; Yun, J.; Yurov, M.; Zana, L.; Zhang, B.; Zhang, J.; Zhao, B.; Zhao, Z. W.

    2008-10-01

    The helicity amplitudes of the electroexcitation of the Roper resonance are extracted for 1.7<Q2<4.5GeV2 from recent high precision JLab-CLAS cross section and longitudinally polarized beam asymmetry data for π+ electroproduction on protons at W=1.15-1.69 GeV. The analysis is made using two approaches, dispersion relations and a unitary isobar model, which give consistent Q2 behavior of the helicity amplitudes for the γ*p→N(1440)P11 transition. It is found that the transverse helicity amplitude A1/2, which is large and negative at Q2=0, becomes large and positive at Q22GeV2, and then drops slowly with Q2. The longitudinal helicity amplitude S1/2, which was previously found from CLAS e→p→epπ0,enπ+ data to be large and positive at Q2=0.4,0.65GeV2, drops with Q2. Available model predictions for γ*p→N(1440)P11 allow us to conclude that these results provide strong evidence in favor of N(1440)P11 as a first radial excitation of the 3q ground state. The results of the present paper also confirm the conclusion of our previous analysis for Q2<1 GeV2 that the presentation of N(1440)P11 as a qG3 hybrid state is ruled out.

  18. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.

    PubMed

    Quintela, Ines; Gomez-Guerrero, Lorena; Fernandez-Prieto, Montse; Resches, Mariela; Barros, Francisco; Carracedo, Angel

    2015-12-01

    In recent years, the advent of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays and its use as a first genetic test for the diagnosis of patients with neurodevelopmental phenotypes has allowed the identification of novel submicroscopic chromosomal abnormalities (namely, copy number variants or CNVs), imperceptible by conventional cytogenetic techniques. The 3q13.31 microdeletion syndrome (OMIM #615433) has been defined as a genomic disorder mainly characterized by developmental delay, postnatal overgrowth, hypotonia, genital abnormalities in males, and characteristic craniofacial features. Although the 3q13.31 CNVs are variable in size, a 3.4 Mb recurrently altered region at 3q13.2-q13.31 has been recently described and non-allelic homologous recombination (NAHR) mediated by flanking human endogenous retrovirus (HERV-H) elements has been suggested as the mechanism of deletion formation. We expand the phenotypic spectrum associated with this recurrent deletion performing the clinical description of a 9-year-old female patient with autistic disorder, total absence of language, intellectual disability, anxiety disorder and disruptive, and compulsive eating behaviors. The array-based molecular karyotyping allowed the identification of a de novo recurrent 3q13.2-q13.31 deletion encompassing 25 genes. In addition, we compare her clinical phenotype with previous reports of patients with neurodevelopmental and behavioral disorders and proximal 3q microdeletions. Finally, we also review the candidate genes proposed so far for these phenotypes. © 2015 Wiley Periodicals, Inc.

  19. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

    PubMed

    Stokman, Marijn F; Oud, Machteld M; van Binsbergen, Ellen; Slaats, Gisela G; Nicolaou, Nayia; Renkema, Kirsten Y; Nijman, Isaac J; Roepman, Ronald; Giles, Rachel H; Arts, Heleen H; Knoers, Nine V A M; van Haelst, Mieke M

    2016-06-01

    We report an 11-year-old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an extra incisor, cup-shaped ears, and a preauricular skin tag. Array comparative genomic hybridization analysis identified a de novo 4.5-Mb microdeletion on chromosome 14q24.2q24.3. The deleted region and phenotype partially overlap with previously reported patients. Here, we provide an overview of the literature on 14q24 microdeletions and further delineate the associated phenotype. We performed exome sequencing to examine other causes for the phenotype and queried genes present in the 14q24.2q24.3 microdeletion that are associated with recessive disease for variants in the non-deleted allele. The deleted region contains 65 protein-coding genes, including the ciliary gene IFT43. Although Sanger and exome sequencing did not identify variants in the second IFT43 allele or in other IFT complex A-protein-encoding genes, immunocytochemistry showed increased accumulation of IFT-B proteins at the ciliary tip in patient-derived fibroblasts compared to control cells, demonstrating defective retrograde ciliary transport. This could suggest a ciliary defect in the pathogenesis of this disorder. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  20. Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.

    PubMed

    Cai, Qiuyin; Zhang, Ben; Sung, Hyuna; Low, Siew-Kee; Kweon, Sun-Seog; Lu, Wei; Shi, Jiajun; Long, Jirong; Wen, Wanqing; Choi, Ji-Yeob; Noh, Dong-Young; Shen, Chen-Yang; Matsuo, Keitaro; Teo, Soo-Hwang; Kim, Mi Kyung; Khoo, Ui Soon; Iwasaki, Motoki; Hartman, Mikael; Takahashi, Atsushi; Ashikawa, Kyota; Matsuda, Koichi; Shin, Min-Ho; Park, Min Ho; Zheng, Ying; Xiang, Yong-Bing; Ji, Bu-Tian; Park, Sue K; Wu, Pei-Ei; Hsiung, Chia-Ni; Ito, Hidemi; Kasuga, Yoshio; Kang, Peter; Mariapun, Shivaani; Ahn, Sei Hyun; Kang, Han Sung; Chan, Kelvin Y K; Man, Ellen P S; Iwata, Hiroji; Tsugane, Shoichiro; Miao, Hui; Liao, Jiemin; Nakamura, Yusuke; Kubo, Michiaki; Delahanty, Ryan J; Zhang, Yanfeng; Li, Bingshan; Li, Chun; Gao, Yu-Tang; Shu, Xiao-Ou; Kang, Daehee; Zheng, Wei

    2014-08-01

    In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified 3 genetic loci newly associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene; P=8.82×10(-9)), rs10474352 at 5q14.3 (near the ARRDC3 gene; P=1.67×10(-9)) and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene; P=4.25×10(-8)). We replicated these associations in 16,003 cases and 41,335 controls of European ancestry (P=0.030, 0.004 and 0.010, respectively). Data from the ENCODE Project suggest that variants rs4951011 and rs10474352 might be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer.

  1. Regional localization of the human integrin {beta}{sub 6} gene (ITGB6) to chromosome 2q24-q31

    SciTech Connect

    Fernandez-Ruiz, E.; Sanchez-Madrid, F.

    The heterodimer {alpha}{sub v}{beta}{sub 6} acts as a fibronectin receptor for human carcinoma cells. The authors report here the regional localization of the {beta}{sub 6} gene to 2q24-q31 by fluorescence in situ hybridization coupled with GTG-banding. This gene is located close to the region to which genes coding for the {alpha} subunits of the integrins VLA-4 and vitronectin receptor (ITGA4 and ITGAV, respectively) have been previously mapped (2q31-q32). These data suggest a proximal position of the integrin {beta}{sub 6} locus (ITGB6) on this integrin gene cluster. Futhermore, double-labeling in situ hybridization experiments performed with {alpha}{sub 4} and {alpha}{sub v} probesmore » indicated a telomeric position of ITGAV with respect to ITGA4. 22 refs., 2 figs.« less

  2. Supersymmetric Q-balls: A numerical study

    NASA Astrophysics Data System (ADS)

    Campanelli, L.; Ruggieri, M.

    2008-02-01

    We study numerically a class of nontopological solitons, the Q-balls, arising in a supersymmetric extension of the standard model with low-energy, gauge-mediated symmetry breaking. Taking into account the exact form of the supersymmetric potential giving rise to Q-balls, we find that there is a lower limit on the value of the charge Q in order to make them classically stable: Q≳5×102Qcr, where Qcr is constant depending on the parameters defining the potential and can be in the range 1≲Qcr≲108÷16. If Q is the baryon number, stability with respect to the decay into protons requires Q≳1017Qcr, while if the gravitino mass is greater then m3/2≳61MeV, no stable gauge-mediation supersymmetric Q-balls exist. Finally, we find that energy and radius of Q-balls can be parametrized as E˜ξEQ3/4 and R˜ξRQ1/4, where ξE and ξR are slowly varying functions of the charge.

  3. The Q2 Mitochondrial Haplogroup in Oceania

    PubMed Central

    Corser, Chris A.; McLenachan, Patricia A.; Pierson, Melanie J.; Harrison, G. L. Abby; Penny, David

    2012-01-01

    Many details surrounding the origins of the peoples of Oceania remain to be resolved, and as a step towards this we report seven new complete mitochondrial genomes from the Q2a haplogroup, from Papua New Guinea, Fiji and Kiribati. This brings the total to eleven Q2 genomes now available. The Q haplogroup (that includes Q2) is an old and diverse lineage in Near Oceania, and is reasonably common; within our sample set of 430, 97 are of the Q haplogroup. However, only 8 are Q2, and we report 7 here. The tree with all complete Q genomes is proven to be minimal. The dating estimate for the origin of Q2 (around 35 Kya) reinforces the understanding that humans have been in Near Oceania for tens of thousands of years; nevertheless the Polynesian maternal haplogroups remain distinctive. A major focus now, with regard to Polynesian ancestry, is to address the differences and timing of the ‘Melanesian’ contribution to the maternal and paternal lineages as people moved further and further into Remote Oceania. Input from other fields such as anthropology, history and linguistics is required for a better understanding and interpretation of the genetic data. PMID:23284859

  4. Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.

    PubMed

    Hedera, P; Blair, M A; Andermann, E; Andermann, F; D'Agostino, D; Taylor, K A; Chahine, L; Pandolfo, M; Bradford, Y; Haines, J L; Abou-Khalil, B

    2007-06-12

    To report results of linkage analysis in a large family with autosomal dominant (AD) familial mesial temporal lobe epilepsy (FMTLE). Although FMTLE is a heterogeneous syndrome, one important subgroup is characterized by a relatively benign course, absence of antecedent febrile seizures, and absence of hippocampal sclerosis. These patients have predominantly simple partial seizures (SPS) and infrequent complex partial seizures (CPS), and intense and frequent déjà vu phenomenon may be the only manifestation of this epilepsy syndrome. No linkage has been described in this form of FMTLE. We identified a four-generation kindred with several affected members meeting criteria for FMTLE and enrolled 21 individuals who gave informed consent. Every individual was personally interviewed and examined; EEG and MRI studies were performed on three affected subjects. DNA was extracted from every enrolled individual. We performed a genome-wide search using an 8 cM panel and fine mapping was performed in the regions with a multipoint lod score >1. We sequenced the highest priority candidate genes. Inheritance was consistent with AD mode with reduced penetrance. Eleven individuals were classified as affected with FMTLE and we also identified two living asymptomatic individuals who had affected offspring. Seizure semiologies included predominantly SPS with déjà vu feeling, infrequent CPS, and rare secondarily generalized tonic-clonic seizures. No structural abnormalities, including hippocampal sclerosis, were detected on MRI performed on three individuals. Genetic analysis detected a group of markers with lod score >3 on chromosome 4q13.2-q21.3 spanning a 7 cM region. No ion channel genes are predicted to be localized within this locus. We sequenced all coding exons of sodium bicarbonate cotransporter (SLC4A) gene, which plays an important role in tissue excitability, and cyclin I (CCNI), because of its role in the cell migration and possibility of subtle cortical abnormalities

  5. Compact Q-balls and Q-shells in a scalar electrodynamics

    SciTech Connect

    Arodz, H.; Lis, J.

    2009-02-15

    We investigate spherically symmetric nontopological solitons in electrodynamics with a scalar field self-interaction U{approx}|{psi}| taken from the complex signum-Gordon model. We find Q-balls for small absolute values of the total electric charge Q, and Q-shells when |Q| is large enough. In both cases the charge density exactly vanishes outside certain compact regions in the three-dimensional space. The dependence of the total energy E of small Q-balls on the total electric charge has the form E{approx}|Q|{sup 5/6}, while in the case of very large Q-shells, E{approx}|Q|{sup 7/6}.

  6. Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1

    PubMed Central

    Cai, Qiuyin; Zhang, Ben; Sung, Hyuna; Low, Siew-Kee; Kweon, Sun-Seog; Lu, Wei; Shi, Jiajun; Long, Jirong; Wen, Wanqing; Choi, Ji-Yeob; Noh, Dong-Young; Shen, Chen-Yang; Matsuo, Keitaro; Teo, Soo-Hwang; Kim, Mi Kyung; Khoo, Ui Soon; Iwasaki, Motoki; Hartman, Mikael; Takahashi, Atsushi; Ashikawa, Kyota; Matsuda, Koichi; Shin, Min-Ho; Park, Min Ho; Zheng, Ying; Xiang, Yong-Bing; Ji, Bu-Tian; Park, Sue K.; Wu, Pei-Ei; Hsiung, Chia-Ni; Ito, Hidemi; Kasuga, Yoshio; Kang, Peter; Mariapun, Shivaani; Ahn, Sei Hyun; Kang, Han Sung; Chan, Kelvin Y. K.; Man, Ellen P. S.; Iwata, Hiroji; Tsugane, Shoichiro; Miao, Hui; Liao, Jiemin; Nakamura, Yusuke; Kubo, Michiaki; Delahanty, Ryan J.; Zhang, Yanfeng; Li, Bingshan; Li, Chun; Gao, Yu-Tang; Shu, Xiao-Ou; Kang, Daehee; Zheng, Wei

    2014-01-01

    In a three-stage genome-wide association study among East Asian women including 22,780 cases and 24,181 controls, we identified three novel genetic loci associated with breast cancer risk, including rs4951011 at 1q32.1 (in intron 2 of the ZC3H11A gene, P = 8.82 × 10−9), rs10474352 at 5q14.3 (near the ARRDC3 gene, P = 1.67 × 10−9), and rs2290203 at 15q26.1 (in intron 14 of the PRC1 gene, P = 4.25 × 10−8). These associations were replicated in European-ancestry populations including 16,003 cases and 41,335 controls (P = 0.030, 0.004, and 0.010, respectively). Data from the ENCODE project suggest that variants rs4951011 and rs10474352 may be located in an enhancer region and transcription factor binding sites, respectively. This study provides additional insights into the genetics and biology of breast cancer. PMID:25038754

  7. Jumping translocation in a newborn boy with dup(4q) and severe hydrops fetalis

    SciTech Connect

    Duval, E.; Enden, A. van den; Vanhaesebrouck, P.

    We report on the unusual cytogenetic findings in a newborn boy with severe hydrops fetalis. He has a mosaic for 2 unbalanced chromosome rearrangements: a der(18)t(4;18)(q31;q23) and a der(18)t(4;18)(q31;p11). As a result, this patient had a duplication of 4q31-qter in cells, and was possibly monosomic for the distal ends of 18p and 18q, respectively in the 2 cell lines. Sine in both rearrangements the same chromosome 4 segment was translocated to 2 different chromosome regions, we consider the present finding as a peculiar type of jumping translocation. 32 refs., 3 figs., 1 tab.

  8. Q(n) species distribution in K2O.2SiO2 glass by 29Si magic angle flipping NMR.

    PubMed

    Davis, Michael C; Kaseman, Derrick C; Parvani, Sahar M; Sanders, Kevin J; Grandinetti, Philip J; Massiot, Dominique; Florian, Pierre

    2010-05-06

    Two-dimensional magic angle flipping (MAF) was employed to measure the Q((n)) distribution in a (29)Si-enriched potassium disilicate glass (K(2)O.2SiO(2)). Relative concentrations of [Q((4))] = 7.2 +/- 0.3%, [Q((3))] = 82.9 +/- 0.1%, and [Q((2))] = 9.8 +/- 0.6% were obtained. Using the thermodynamic model for Q((n)) species disproportionation, these relative concentrations yield an equilibrium constant k(3) = 0.0103 +/- 0.0008, indicating, as expected, that the Q((n)) species distribution is close to binary in the potassium disilicate glass. A Gaussian distribution of isotropic chemical shifts was observed for each Q((n)) species with mean values of -82.74 +/- 0.03, -91.32 +/- 0.01, and -101.67 +/- 0.02 ppm and standard deviations of 3.27 +/- 0.03, 4.19 +/- 0.01, and 5.09 +/- 0.03 ppm for Q((2)), Q((3)), and Q((4)), respectively. Additionally, nuclear shielding anisotropy values of zeta =-85.0 +/- 1.3 ppm, eta = 0.48 +/- 0.02 for Q((2)) and zeta = -74.9 +/- 0.2 ppm, eta = 0.03 +/- 0.01 for Q((3)) were observed in the potassium disilicate glass.

  9. Novel pathways revealed in P. fluorescens Q2-87 and Q8r1-96

    USDA-ARS?s Scientific Manuscript database

    Pseudomonas fluorescens Q2-87 and Q8r1-96, both from a take-all decline field in Quincy, Washington, U.S.A., are almost indistinguishable in vitro, but only strain Q8r1-96 exhibits the “premier” phenotype distinguished by highly aggressive wheat root colonizing ability essential for the natural dise...

  10. Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier.

    PubMed

    Peterson, Jess F; Geddes, Gabrielle C; Basel, Donald G; Schippman, Dana; Grignon, John W; vanTuinen, Peter; Kappes, Ulrike P

    2018-03-01

    We report a 4-month-old male proband with a history of prominent forehead, hypertelorism, ear abnormalities, micrognathia, hypospadias, and multiple cardiac abnormalities. Initial microarray analysis detected a concurrent 7p21.3-p22.3 duplication and 13q33.2-q34 deletion indicating an unbalanced rearrangement. However, subsequent conventional cytogenetic studies only revealed what appeared to be a balanced t(12;20)(q24.33;p12.2). Fluorescence in situ hybridization (FISH) using chromosome-specific subtelomere probes confirmed the presence of an unbalanced der(13)t(7;13)(p21.3;q33.2) and balanced t(12;20)(q24.33;p12.2), both of maternal origin. In addition to our unique clinical findings, this case highlights the benefits and limitations of both conventional cytogenetic studies and microarray analysis and how FISH complements each methodology.

  11. Case history and genome-wide scans for copy number variants in a family with patient having 15q11.1-q11.2 duplication and 22q11.2 deletion, and schizophrenia.

    PubMed

    Takahashi, Sakae; Suzuki, Takahiro; Nakamura-Tomizuka, Sakura; Osaki, Koichi; Sotome, Yuta; Sagawa, Tomoaki; Uchiyama, Makoto

    2015-06-01

    Many studies have indicated that chromosomes 15q11 and 22q11 may be associated with the genetic etiologies of schizophrenia. We have followed an adult schizophrenia case with 15q11.1-q11.2 duplication and 22q11.2 deletion. Here we report his clinical history, and copy number variants (CNVs) identified by microarray and real-time PCR in the patient and his parents. This is the first report describing a detailed phenotype of an adult schizophrenic case with both 15q11 and 22q11 CNVs as revealed by novel and trustworthy technologies. Subjects were a 33-year-old male patient with 15q11 and 22q11 CNVs, and his normal parents. He fulfilled the DSM-IV criteria for schizophrenia at age 18 years. He was also diagnosed with 22q11.2 deletion syndrome by fluorescence in situ hybridization (FISH) at age 18 years. To search for CNVs in more detail, whole-genome array-CGH analyses including ∼ 420,000 probes were carried out in the patient and his parents. For validations of the CNVs detected by array-CGH, real-time PCR analyses of these CNVs were performed. The patient had two disease-specific CNVs, 15q11.1-q11.2 duplication (∼ 2.7 Mb) and 22q11.21 deletion (∼ 2.9 Mb). These two regions are important for the development of schizophrenia, and this patient had shown symptoms of schizophrenia. Thus, the two areas may contain causal genes for schizophrenia. © 2015 Wiley Periodicals, Inc.

  12. Sigma model Q-balls and Q-stars

    SciTech Connect

    Verbin, Y.

    2007-10-15

    A new kind of Q-balls is found: Q-balls in a nonlinear sigma model. Their main properties are presented together with those of their self-gravitating generalization, sigma model Q-stars. A simple special limit of solutions which are bound by gravity alone ('sigma stars') is also discussed briefly. The analysis is based on calculating the mass, global U(1) charge and binding energy for families of solutions parametrized by the central value of the scalar field. Two kinds (differing by the potential term) of the new sigma model Q-balls and Q-stars are analyzed. They are found to share some characteristics while differing inmore » other respects like their properties for weak central scalar fields which depend strongly on the form of the potential term. They are also compared with their ordinary counterparts and although similar in some respects, significant differences are found like the existence of an upper bound on the central scalar field. A special subset of the sigma model Q-stars contains those which do not possess a flat space limit. Their relation with sigma star solutions is discussed.« less

  13. Q-Sample Construction: A Critical Step for a Q-Methodological Study.

    PubMed

    Paige, Jane B; Morin, Karen H

    2016-01-01

    Q-sample construction is a critical step in Q-methodological studies. Prior to conducting Q-studies, researchers start with a population of opinion statements (concourse) on a particular topic of interest from which a sample is drawn. These sampled statements are known as the Q-sample. Although literature exists on methodological processes to conduct Q-methodological studies, limited guidance exists on the practical steps to reduce the population of statements to a Q-sample. A case exemplar illustrates the steps to construct a Q-sample in preparation for a study that explored perspectives nurse educators and nursing students hold about simulation design. Experts in simulation and Q-methodology evaluated the Q-sample for readability, clarity, and for representativeness of opinions contained within the concourse. The Q-sample was piloted and feedback resulted in statement refinement. Researchers especially those undertaking Q-method studies for the first time may benefit from the practical considerations to construct a Q-sample offered in this article. © The Author(s) 2014.

  14. Primitive ideals of C q [ SL(3)

    NASA Astrophysics Data System (ADS)

    Hodges, Timothy J.; Levasseur, Thierry

    1993-10-01

    The primitive ideals of the Hopf algebra C q [ SL(3)] are classified. In particular it is shown that the orbits in Prim C q [ SL(3)] under the action of the representation group H ≅ C *× C * are parameterized naturally by W×W, where W is the associated Weyl group. It is shown that there is a natural one-to-one correspondence between primitive ideals of C q [ SL(3)] and symplectic leaves of the associated Poisson algebraic group SL(3, C).

  15. Molecular structure and spectral properties of ethyl 3-quinolinecarboxylate (E3Q) and [Ag(E3Q)2(TCA)] complex (TCA = Trichloroacetate)

    NASA Astrophysics Data System (ADS)

    Soliman, Saied M.; Kassem, Taher S.; Badr, Ahmed M. A.; Abou Youssef, Morsy A.; Assem, Rania

    2014-09-01

    A new [Ag(E3Q)2(TCA)] complex; (E3Q = Ethyl 3-quinolinecarboxylate and TCA = Trichloroacetate) has been synthesized and characterized using elemental analysis, FTIR, NMR and mass spectroscopy. The molecular geometry and spectroscopic properties of the complex as well as the free ligand have been calculated using the hybrid B3LYP method. The calculations predicted a distorted tetrahedral arrangement around Ag(I) ion. The vibrational spectra of the studied compounds have been assigned using potential energy distribution (PED). TD-DFT method was used to predict the electronic absorption spectra. The most intense absorption band showed a bathochromic shift and lowering of intensity in case of the complex (233.7 nm, f = 0.5604) compared to E3Q (λmax = 228.0 nm, f = 0.9072). The calculated 1H NMR chemical shifts using GIAO method showed good correlations with the experimental data. The computed dipole moment, polarizability and HOMO-LUMO energy gap were used to predict the nonlinear optical (NLO) properties. It is found that Ag(I) enhances the NLO activity. The natural bond orbital (NBO) analyses were used to elucidate the intramolecular charge transfer interactions causing stabilization for the investigated systems.

  16. Genomewide Linkage Scan for Split–Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1

    PubMed Central

    Naveed, Mohammed; Nath, Swapan K.; Gaines, Mathew; Al-Ali, Mahmoud T.; Al-Khaja, Najib; Hutchings, David; Golla, Jeffrey; Deutsch, Samuel; Bottani, Armand; Antonarakis, Stylianos E.; Ratnamala, Uppala; Radhakrishna, Uppala

    2007-01-01

    Split–hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-foot deformity. Identification of genetic susceptibility loci for SHFLD has been unsuccessful because of its rare incidence, variable phenotypic expression and associated anomalies, and uncertain inheritance pattern. SHFLD is usually inherited as an autosomal dominant trait with reduced penetrance, although recessive inheritance has also been postulated. We conducted a genomewide linkage analysis, using a 10K SNP array in a large consanguineous family (UR078) from the United Arab Emirates (UAE) who had disease transmission consistent with an autosomal dominant inheritance pattern. The study identified two novel SHFLD susceptibility loci at 1q42.2-q43 (nonparametric linkage [NPL] 9.8, P=.000065) and 6q14.1 (NPL 7.12, P=.000897). These results were also supported by multipoint parametric linkage analysis. Maximum multipoint LOD scores of 3.20 and 3.78 were detected for genomic locations 1q42.2-43 and 6q14.1, respectively, with the use of an autosomal dominant mode of inheritance with reduced penetrance. Haplotype analysis with informative crossovers enabled mapping of the SHFLD loci to a region of ∼18.38 cM (8.4 Mb) between single-nucleotide polymorphisms rs1124110 and rs535043 on 1q42.2-q43 and to a region of ∼1.96 cM (4.1 Mb) between rs623155 and rs1547251 on 6q14.1. The study identified two novel loci for the SHFLD phenotype in this UAE family. PMID:17160898

  17. Myelodysplastic Syndrome with concomitant t(5;21)(q15;q22) and del(5)(q13q33): case report and review of literature

    PubMed Central

    Weckbaugh, Brandon; Sirridge, Christopher; Woodroof, Janet; Persons, Diane

    2016-01-01

    Chromosomal abnormalities lead to the development of hematologic malignancies such as Myelodysplastic Syndrome (MDS). Known chromosomal changes causing MDS include deletion of the long arm of chromosome 5, runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1), and very rarely fusion genes involving RUNX1 at t(5;21)(q15;q22). We present a case of a 71-year-old female with MDS, refractory anemia with excess blasts, type 1, with a combination of two cytogenetic abnormalities, specifically a concomitant translocation between chromosomes 5q15 and 21q22 and deletion of chromosome 5q13q33. Fluorescence in-situ hybridization (FISH) using a probe for RUNX1 (AML1), localized to 21q22, showed three FISH signals for RUNX1, consistent with rearrangement of RUNX1. Therapy was started with Lenalidomide leading to normal blood counts. Most significantly, repeat cytogenetics revealed normal karyotype and resolution of deletion on the long arm of chromosome 5 and a t(5;21). FISH negative for deletion 5q. The results altogether meet criteria for a complete cytogenetic remission (CR). We report a new case of t(5;21)(q15;q22) involving the RUNX1 gene and del(5)(q13q33) in a MDS patient, a combination of chromosomal abnormalities heretofore not reported in the literature. RUNX1 rearrangement is usually associated with an adverse prognosis in AML and MDS. Deletions of 5q are typically associated with poor prognosis in AML, however it is usually associated with a favorable prognosis in MDS. Our patient responded very well to Lenalidomide therapy with achievement of CR. Lenalidomide is approved for treatment of anemia in low and intermediate risk MDS with del (5q), however based on a search of literature it seems that RUNX1 mutations are also more prominent in patients who have responded to Lenalidomide therapy. MDS is a genomically unstable disease. Hence, it is conceivable that our patient started with a 5q minus syndrome and then acquired the

  18. Normal Q-angle in an adult Nigerian population.

    PubMed

    Omololu, Bade B; Ogunlade, Olusegun S; Gopaldasani, Vinod K

    2009-08-01

    The Q-angle has been studied among the adult Caucasian population with the establishment of reference values. Scientists are beginning to accept the concept of different human races. Physical variability exists between various African ethnic groups and Caucasians as exemplified by differences in anatomic features such as a flat nose compared with a pointed nose, wide rather than narrow faces, and straight rather than curly hair. Therefore, we cannot assume the same Q-angle values will be applicable to Africans and Caucasians. We established a baseline reference value for normal Q-angles among asymptomatic Nigerian adults. The Q-angles of the left and right knees were measured using a goniometer in 477 Nigerian adults (354 males; 123 females) in the supine and standing positions. The mean Q-angles for men were 10.7 degrees +/- 2.2 degrees in the supine position and 12.3 degrees +/- 2.2 degrees in the standing position in the right knee. The left knee Q-angles in men were 10.5 degrees +/- 2.6 degrees in the supine position and 11.7 degrees +/- 2.8 degrees in the standing position. In women, the mean Q-angles for the right knee were 21 degrees +/- 4.8 degrees in the supine position and 22.8 degrees +/- 4.7 degrees in the standing position. The mean Q-angles for the left knee in women were 20.9 degrees +/- 4.6 degrees in the supine position and 22.7 degrees +/- 4.6 degrees in the standing position. We observed a difference in Q-angles in the supine and standing positions for all participants. The Q-angle in adult Nigerian men is comparable to that of adult Caucasian men, but the Q-angle of Nigerian women is greater than that of their Caucasian counterparts.

  19. Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

    PubMed

    Novo-Filho, Gil M; Montenegro, Marília M; Zanardo, Évelin A; Dutra, Roberta L; Dias, Alexandre T; Piazzon, Flavia B; Costa, Taís V M M; Nascimento, Amom M; Honjo, Rachel S; Kim, Chong A; Kulikowski, Leslie D

    2016-01-01

    The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenital anomalies (CA) and developmental and/or intellectual disabilities (DD/ID) using MLPA subtelomeric specific kits (P036 /P070) and 4 of them using microarrays. We found abnormal subtelomeric CNVs in 15 patients (14.3%), including 8 patients with subtelomeric deletions at 4p/4q (53.3%). Additional genomic changes were observed at 1p36, 2q37.3, 5p15.3, 5q35.3, 8p23.3, 13q11, 14q32.3, 15q11.2, and Xq28/Yq12. This indicates the prevalence of independent deletions at 4p/4q, involving PIGG, TRIML2, and FRG1. Furthermore, we identified 15 genes with changes in copy number that contribute to neurological development and/or function, among them CRMP1, SORCS2, SLC25A4, and HELT. Our results highlight the association of genes with changes in copy number at 4p and 4q subtelomeric regions and the DD phenotype. Cytogenomic characterization of additional cases with distal deletions should help clarifying the role of subtelomeric CNVs in neurological diseases. © 2016 S. Karger AG, Basel.

  20. ProQ3D: improved model quality assessments using deep learning.

    PubMed

    Uziela, Karolis; Menéndez Hurtado, David; Shu, Nanjiang; Wallner, Björn; Elofsson, Arne

    2017-05-15

    Protein quality assessment is a long-standing problem in bioinformatics. For more than a decade we have developed state-of-art predictors by carefully selecting and optimising inputs to a machine learning method. The correlation has increased from 0.60 in ProQ to 0.81 in ProQ2 and 0.85 in ProQ3 mainly by adding a large set of carefully tuned descriptions of a protein. Here, we show that a substantial improvement can be obtained using exactly the same inputs as in ProQ2 or ProQ3 but replacing the support vector machine by a deep neural network. This improves the Pearson correlation to 0.90 (0.85 using ProQ2 input features). ProQ3D is freely available both as a webserver and a stand-alone program at http://proq3.bioinfo.se/. arne@bioinfo.se. Supplementary data are available at Bioinformatics online. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com

  1. Anti-C1q Antibodies in Systemic Lupus Erythematosus

    PubMed Central

    ORBAI, ANA-MARIA; TRUEDSSON, LENNART; STURFELT, GUNNAR; NIVED, OLA; FANG, HONG; ALARCÓN, GRACIELA S.; GORDON, CAROLINE; MERRILL, JOAN T.; FORTIN, PAUL R.; BRUCE, IAN N.; ISENBERG, DAVID A.; WALLACE, DANIEL J.; RAMSEY-GOLDMAN, ROSALIND; BAE, SANG-CHEOL; HANLY, JOHN G.; SANCHEZ-GUERRERO, JORGE; CLARKE, ANN E.; ARANOW, CYNTHIA B.; MANZI, SUSAN; UROWITZ, MURRAY B.; GLADMAN, DAFNA D.; KALUNIAN, KENNETH C.; COSTNER, MELISSA I.; WERTH, VICTORIA P.; ZOMA, ASAD; BERNATSKY, SASHA; RUIZ-IRASTORZA, GUILLERMO; KHAMASHTA, MUNTHER A.; JACOBSEN, SOREN; BUYON, JILL P.; MADDISON, PETER; DOOLEY, MARY ANNE; VAN VOLLENHOVEN, RONALD F.; GINZLER, ELLEN; STOLL, THOMAS; PESCHKEN, CHRISTINE; JORIZZO, JOSEPH L.; CALLEN, JEFFREY P.; LIM, S. SAM; FESSLER, BARRI J.; INANC, MURAT; KAMEN, DIANE L.; RAHMAN, ANISUR; STEINSSON, KRISTJAN; FRANKS, ANDREW G.; SIGLER, LISA; HAMEED, SUHAIL; PHAM, NEENA; BREY, ROBIN; WEISMAN, MICHAEL H.; MCGWIN, GERALD; MAGDER, LAURENCE S.; PETRI, MICHELLE

    2014-01-01

    Objective Anti-C1q has been associated with systemic lupus erythematosus (SLE) and lupus nephritis in previous studies. We studied anti-C1q specificity for SLE (vs. rheumatic disease controls) and the association with SLE manifestations in an international multi-center study. Methods Information and blood samples were obtained in a cross-sectional study from patients with SLE (n=308) and other rheumatologic diseases (n=389) from 25 clinical sites (84% female, 68% Caucasian, 17% African descent, 8% Asian, 7% other). IgG anti-C1q against the collagen-like region was measured by ELISA. Results Prevalence of anti-C1q was 28% (86/308) in patients with SLE and 13% (49/389) in controls (OR=2.7, 95% CI: 1.8-4, p<0.001). Anti-C1q was associated with proteinuria (OR=3.0, 95% CI: 1.7-5.1, p<0.001), red cell casts (OR=2.6, 95% CI: 1.2-5.4, p=0.015), anti-dsDNA (OR=3.4, 95% CI: 1.9-6.1, p<0.001) and anti-Smith (OR=2.8, 95% CI: 1.5-5.0, p=0.01). Anti-C1q was independently associated with renal involvement after adjustment for demographics, ANA, anti-dsDNA and low complement (OR=2.3, 95% CI: 1.3-4.2, p<0.01). Simultaneously positive anti-C1q, anti-dsDNA and low complement was strongly associated with renal involvement (OR=14.9, 95% CI: 5.8-38.4, p<0.01). Conclusions Anti-C1q was more common in patients with SLE and those of Asian race/ethnicity. We confirmed a significant association of anti-C1q with renal involvement, independent of demographics and other serologies. Anti-C1q in combination with anti-dsDNA and low complement was the strongest serological association with renal involvement. These data support the usefulness of anti-C1q in SLE, especially in lupus nephritis. PMID:25124676

  2. Restoring de novo Coenzyme Q biosynthesis in Caenorhabditis elegans coq-3 mutants yields profound rescue compared to exogenous Coenzyme Q supplementation

    PubMed Central

    Gomez, Fernando; Saiki, Ryoichi; Chin, Randall; Srinivasan, Chandra; Clarke, Catherine F.

    2012-01-01

    Coenzyme Q (ubiquinone or Q) is an essential lipid component of the mitochondrial electron transport chain. In Caenorhabditis elegans Q biosynthesis involves at least nine steps, including the hydroxylation of the hydroquinone ring by CLK-1 and two O-methylation steps mediated by COQ-3. We characterize two C. elegans coq-3 deletion mutants, and show that while each has defects in Q synthesis, their phenotypes are distinct. First generation homozygous coq-3(ok506) mutants are fertile when fed the standard lab diet of Q-replete OP50 E. coli, but their second generation homozygous progeny do not reproduce. In contrast, the coq-3(qm188) deletion mutant remains sterile when fed Q-replete OP50. Quantitative PCR analyses suggest that the longer qm188 deletion may alter expression of the flanking nuo-3 and gdi-1 genes, located 5′ and 3′, respectively of coq-3 within an operon. We surmise that variable expression of nuo-3, a subunit of complex I, or of gdi-1, a guanine nucleotide dissociation inhibitor, may act in combination with defects in Q biosynthesis to produce a more severe phenotype. The phenotypes of both coq-3 mutants are more drastic as compared to the C. elegans clk-1 mutants. When fed OP50, clk-1 mutants reproduce for many generations, but show reduced fertility, slow behaviors, and enhanced life span. The coq-3 and clk-1 mutants all show arrested development and are sterile when fed the Q-deficient E. coli strain GD1 (harboring a mutation in the ubiG gene). However, unlike clk-1 mutant worms, neither coq-3 mutant strain responded to dietary supplementation with purified exogenous Q10. Here we show that the Q9 content can be determined in lipid extracts from just 200 individual worms, enabling the determination of Q content in the coq-3 mutants unable to reproduce. An extra-chromosomal array expressing wild-type C. elegans coq-3 rescued fertility of both coq-3 mutants and partially restored steady-state levels of COQ-3 polypeptide and Q9 content, indicating

  3. Restoring de novo coenzyme Q biosynthesis in Caenorhabditis elegans coq-3 mutants yields profound rescue compared to exogenous coenzyme Q supplementation.

    PubMed

    Gomez, Fernando; Saiki, Ryoichi; Chin, Randall; Srinivasan, Chandra; Clarke, Catherine F

    2012-09-10

    Coenzyme Q (ubiquinone or Q) is an essential lipid component of the mitochondrial electron transport chain. In Caenorhabditis elegans Q biosynthesis involves at least nine steps, including the hydroxylation of the hydroquinone ring by CLK-1 and two O-methylation steps mediated by COQ-3. We characterize two C. elegans coq-3 deletion mutants, and show that while each has defects in Q synthesis, their phenotypes are distinct. First generation homozygous coq-3(ok506) mutants are fertile when fed the standard lab diet of Q-replete OP50 Escherichia coli, but their second generation homozygous progeny does not reproduce. In contrast, the coq-3(qm188) deletion mutant remains sterile when fed Q-replete OP50. Quantitative PCR analyses suggest that the longer qm188 deletion may alter expression of the flanking nuo-3 and gdi-1 genes, located 5' and 3', respectively of coq-3 within an operon. We surmise that variable expression of nuo-3, a subunit of complex I, or of gdi-1, a guanine nucleotide dissociation inhibitor, may act in combination with defects in Q biosynthesis to produce a more severe phenotype. The phenotypes of both coq-3 mutants are more drastic as compared to the C. elegans clk-1 mutants. When fed OP50, clk-1 mutants reproduce for many generations, but show reduced fertility, slow behaviors, and enhanced life span. The coq-3 and clk-1 mutants all show arrested development and are sterile when fed the Q-deficient E. coli strain GD1 (harboring a mutation in the ubiG gene). However, unlike clk-1 mutant worms, neither coq-3 mutant strain responded to dietary supplementation with purified exogenous Q(10). Here we show that the Q(9) content can be determined in lipid extracts from just 200 individual worms, enabling the determination of Q content in the coq-3 mutants unable to reproduce. An extra-chromosomal array expressing wild-type C. elegans coq-3 rescued fertility of both coq-3 mutants and partially restored steady-state levels of COQ-3 polypeptide and Q(9

  4. Chronic Q Fever in the Netherlands 5 Years after the Start of the Q Fever Epidemic: Results from the Dutch Chronic Q Fever Database

    PubMed Central

    Delsing, Corine E.; Groenwold, Rolf H. H.; Wegdam-Blans, Marjolijn C. A.; Bleeker-Rovers, Chantal P.; de Jager-Leclercq, Monique G. L.; Hoepelman, Andy I. M.; van Kasteren, Marjo E.; Buijs, Jacqueline; Renders, Nicole H. M.; Nabuurs-Franssen, Marrigje H.; Oosterheert, Jan Jelrik; Wever, Peter C.

    2014-01-01

    Coxiella burnetii causes Q fever, a zoonosis, which has acute and chronic manifestations. From 2007 to 2010, the Netherlands experienced a large Q fever outbreak, which has offered a unique opportunity to analyze chronic Q fever cases. In an observational cohort study, baseline characteristics and clinical characteristics, as well as mortality, of patients with proven, probable, or possible chronic Q fever in the Netherlands, were analyzed. In total, 284 chronic Q fever patients were identified, of which 151 (53.7%) had proven, 64 (22.5%) probable, and 69 (24.3%) possible chronic Q fever. Among proven and probable chronic Q fever patients, vascular infection focus (56.7%) was more prevalent than endocarditis (34.9%). An acute Q fever episode was recalled by 27.0% of the patients. The all-cause mortality rate was 19.1%, while the chronic Q fever-related mortality rate was 13.0%, with mortality rates of 9.3% among endocarditis patients and 18% among patients with a vascular focus of infection. Increasing age (P = 0.004 and 0.010), proven chronic Q fever (P = 0.020 and 0.002), vascular chronic Q fever (P = 0.024 and 0.005), acute presentation with chronic Q fever (P = 0.002 and P < 0.001), and surgical treatment of chronic Q fever (P = 0.025 and P < 0.001) were significantly associated with all-cause mortality and chronic Q fever-related mortality, respectively. PMID:24599987

  5. Construction of general colored R matrices for the Yang-Baxter equation and q-boson realization of quantum algebra SL[sub q](2) when q is a root of unity

    SciTech Connect

    Ge, M.L.; Sun, C.P.; Xue, K.

    1992-10-20

    In this paper, through a general q-boson realization of quantum algebra sl[sub q](2) and its universal R matrix an operator R matrix with many parameters is obtained in terms of q-boson operators. Building finite-dimensional representations of q-boson algebra, the authors construct various colored R matrices associated with nongeneric representations of sl[sub q](2) with dimension-independent parameters. The nonstandard R matrices obtained by Lee-Couture and Murakami are their special examples.

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

    PubMed

    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.

  7. Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25

    PubMed Central

    Burkardt, Deepika D’Cunha; Rosenfeld, Jill A.; Helgeson, Maria; Angle, Brad; Banks, Valerie; Smith, Wendy; Gripp, Karen W.; Moline, Jessica; Moran, Rocio; Niyazov, Dmitriy M.; Stevens, Cathy; Zackai, Elaine; Lebel, Robert Roger; Ashley, Douglas; Kramer, Nancy; Lachman, Ralph S.; Graham, John M.

    2011-01-01

    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: 170135865–172099327, 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. PMID:21548129

  8. Tm:GdVO4 microchip laser Q-switched by a Sb2Te3 topological insulator

    NASA Astrophysics Data System (ADS)

    Loiko, Pavel; Bogusławski, Jakub; Serres, Josep Maria; Kifle, Esrom; Kowalczyk, Maciej; Mateos, Xavier; Sotor, Jarosław; Zybała, Rafał; Mars, Krzysztof; Mikuła, Andrzej; Aguiló, Magdalena; Díaz, Francesc; Griebner, Uwe; Petrov, Valentin

    2018-02-01

    We report on the first application of a topological insulator based on antimony telluride (Sb2Te3) as a saturable absorber (SA) in a bulk microchip laser. The transmission-type SA consisted of a thin film of Sb2Te3 (thickness: 3 nm) deposited on a glass substrate by pulsed magnetron sputtering. The saturable absorption of the Sb2Te3 film was confirmed for ns-long pulses. The microchip laser was based on a Tm:GdVO4 crystal diode-pumped at 802 nm. In the continuous-wave regime, this laser generated 3.54 W at 1905-1921 nm with a slope efficiency η of 37%. The Q-switched laser generated a maximum average output power of 0.70 W at 1913 nm. The pulse energy and duration were 3.5 μJ and 223 ns, respectively, at a repetition rate of 200 kHz. The Sb2Te3 SAs are promising for passively Q-switched waveguide lasers at 2 μm.

  9. All (4,1): Sigma models with (4 , q) off-shell supersymmetry

    NASA Astrophysics Data System (ADS)

    Hull, Chris; Lindström, Ulf

    2017-03-01

    Off-shell (4 , q) supermultiplets in 2-dimensions are constructed for q = 1 , 2 , 4. These are used to construct sigma models whose target spaces are hyperkähler with torsion. The off-shell supersymmetry implies the three complex structures are simultaneously integrable and allows us to construct actions using extended superspace and projective superspace, giving an explicit construction of the target space geometries.

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

    PubMed

    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.

  11. 18q- and 18q+ mosaicism in a mentally retarded boy

    SciTech Connect

    Ausems, M.G.E.M.; Bhola, S.L.; France, H.F. de

    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 (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed. 6 refs., 4 figs., 1 tab.

  12. The recurrent chromosomal translocation t(12;18) (q14~15;q12~21) causes the fusion gene HMGA2-SETBP1 and HMGA2 expression in lipoma and osteochondrolipoma

    PubMed Central

    PANAGOPOULOS, IOANNIS; GORUNOVA, LUDMILA; BJERKEHAGEN, BODIL; LOBMAIER, INGVILD; HEIM, SVERRE

    2015-01-01

    Lipomas are the most common soft tissue tumors in adults. They often carry chromosome aberrations involving 12q13~15 leading to rearrangements of the HMGA2 gene in 12q14.3, with breakpoints occurring within or outside of the gene. Here, we present eleven lipomas and one osteochondrolipoma with a novel recurrent chromosome aberration, t(12;18) (q14~15;q12~21). Molecular studies on eight of the tumors showed that full-length HMGA2 transcript was expressed in three and a chimeric HMGA2 transcript in five of them. In three lipomas and in the osteochondrolipoma, exons 1–3 of HMGA2 were fused to a sequence of SETBP1 on 18q12.3 or an intragenic sequence from 18q12.3 circa 10 kbp distal to SETBP1. In another lipoma, exons 1–4 of HMGA2 were fused to an intronic sequence of GRIP1 which maps to chromosome band 12q14.3, distal to HMGA2. The ensuing HMGA2 fusion transcripts code for putative proteins which contain amino acid residues of HMGA2 corresponding to exons 1–3 (or exons 1–4 in one case) followed by amino acid residues corresponding to the fused sequences. Thus, the pattern is similar to the rearrangements of HMGA2 found in other lipomas, i.e., disruption of the HMGA2 locus leaves intact exons 1–3 which encode the AT-hooks domains and separates them from the 3′-terminal part of the gene. The fact that the examined osteochondrolipoma had a t(12;18) and a HMGA2-SETBP1 fusion identical to the findings in the much more common ordinary lipomas, underscores the close developmental relationship between the two tumor types. PMID:26202160

  13. On representations of U{sub q}osp(1{vert_bar}2) when q is a root of unity

    SciTech Connect

    Chung, W.; Suzuki, T.

    1997-06-01

    The infinite dimensional highest weight representations of U{sub q}osp(1{vert_bar}2) for the deformation parameter q being a root of unity are investigated. As in the cases of q-deformed nongraded Lie algebras, we find that every irreducible representation is isomorphic to the tensor product of a highest weight representation of sl{sub 2}(R) and a finite dimensional one of U{sub q}osp(1{vert_bar}2). The structure is investigated in detail. {copyright} {ital 1997 American Institute of Physics.}

  14. Coenzyme Q as an antiadipogenic factor.

    PubMed

    Bour, Sandy; Carmona, Maria-Carmen; Galinier, Anne; Caspar-Bauguil, Sylvie; Van Gaal, Luc; Staels, Bart; Pénicaud, Luc; Casteilla, Louis

    2011-02-01

    Coenzyme Q (CoQ) is not only the single antioxidant synthesized in humans but also an obligatory element of mitochondrial functions. We have previously reported CoQ deficiency in white adipose tissue of ob/ob mice. We sought to determine (i) whether this deficit exists in all species and its relevance in human obesity and (ii) to what extent CoQ could be involved in adipocyte differentiation. Here we identified in rodents as well as in humans a specific very strong nonlinear negative correlation between CoQ content in subcutaneous adipose tissue and obesity indexes. This striking correlation reveals a threshold value similar in both species. This relative deficit in CoQ content in adipose tissue rapidly took place during the time course of high-fat-diet-induced obesity in mice. Adipocyte differentiation was assessed in vitro using the preadipocyte 3T3-F442A cell line. When CoQ synthesis was inhibited by a pharmacological approach using chlorobenzoic acid, this strongly triggered adipose differentiation. In contrast, adipogenesis was strongly inhibited when a long-term increase in CoQ content was obtained by overexpressing human 4-hydroxy benzoate acid polyprenyltransferase gene. Altogether, these data suggest that a strict level of CoQ remains essential for adipocyte differentiation, and its impairment is associated with obesity.

  15. Coenzyme Q10 Therapy

    PubMed Central

    Garrido-Maraver, Juan; Cordero, Mario D.; Oropesa-Ávila, Manuel; Fernández Vega, Alejandro; de la Mata, Mario; Delgado Pavón, Ana; de Miguel, Manuel; Pérez Calero, Carmen; Villanueva Paz, Marina; Cotán, David; Sánchez-Alcázar, José A.

    2014-01-01

    For a number of years, coenzyme Q10 (CoQ10) was known for its key role in mitochondrial bioenergetics; later studies demonstrated its presence in other subcellular fractions and in blood plasma, and extensively investigated its antioxidant role. These 2 functions constitute the basis for supporting the clinical use of CoQ10. Also, at the inner mitochondrial membrane level, CoQ10 is recognized as an obligatory cofactor for the function of uncoupling proteins and a modulator of the mitochondrial transition pore. Furthermore, recent data indicate that CoQ10 affects the expression of genes involved in human cell signaling, metabolism and transport, and some of the effects of CoQ10 supplementation may be due to this property. CoQ10 deficiencies are due to autosomal recessive mutations, mitochondrial diseases, aging-related oxidative stress and carcinogenesis processes, and also statin treatment. Many neurodegenerative disorders, diabetes, cancer, and muscular and cardiovascular diseases have been associated with low CoQ10 levels as well as different ataxias and encephalomyopathies. CoQ10 treatment does not cause serious adverse effects in humans and new formulations have been developed that increase CoQ10 absorption and tissue distribution. Oral administration of CoQ10 is a frequent antioxidant strategy in many diseases that may provide a significant symptomatic benefit. PMID:25126052

  16. Computational study of red- and blue-shifted Csbnd H⋯Se hydrogen bond in Q3Csbnd H⋯SeH2 (Q = Cl, F, H) complexes

    NASA Astrophysics Data System (ADS)

    Chopra, Pragya; Chakraborty, Shamik

    2018-01-01

    This work presents Csbnd H⋯Se hydrogen bonding interaction at the MP2 level of theory. The system Q3Csbnd H⋯SeH2 (Q = Cl, F, and H) provides an opportunity to investigate red- and blue-shifted hydrogen bonds. The origin of the red- and blue-shift in Csbnd H stretching frequency has been investigated using Natural Bond Orbital analysis. A large amount of electron density is being transferred to the σ∗Csbnd H orbital in red-shifted Cl3Csbnd H⋯SeH2. Electron density transfer in the blue-shifted F3Csbnd H⋯SeH2 is primarily to the remote fluorine atoms. Further, due to polarization of the Csbnd H bond, the contradicting effects of rehybridization and hyperconjugation are important. The extent of hyperconjugation reigns predominant in explaining the nature of the Csbnd H⋯Se hydrogen bond in Q3Csbnd H⋯SeH2 complexes as the hydrogen bond acceptor remain same in this investigation. Red- and blue-shift in Q3Csbnd H⋯SeH2 (Q = Cl and F) complexes is best described by pro-improper hydrogen bond donor concept.

  17. Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

    PubMed

    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.

  18. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.

    PubMed

    Ferraris, Alessandro; Bernardini, Laura; Sabolic Avramovska, Vesna; Zanni, Ginevra; Loddo, Sara; Sukarova-Angelovska, Elena; Parisi, Valentina; Capalbo, Anna; Tumini, Stefano; Travaglini, Lorena; Mancini, Francesca; Duma, Filip; Barresi, Sabina; Novelli, Antonio; Mercuri, Eugenio; Tarani, Luigi; Bertini, Enrico; Dallapiccola, Bruno; Valente, Enza Maria

    2013-05-16

    The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.

  19. Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35).

    PubMed

    Giussani, Marta; Cardone, Maria Francesca; Bodega, Beatrice; Ginelli, Enrico; Meneveri, Raffaella

    2012-11-01

    We performed a detailed genomic investigation of the chimpanzee locus syntenic to human chromosome 4q35.2, associated to the facioscapulohumeral dystrophy. Two contigs of approximately 150 kb and 200 kb were derived from PTR chromosomes 4q35 and 3p12, respectively: both regions showed a very similar sequence organization, including D4Z4 and Beta satellite linked clusters. Starting from these findings, we derived a hypothetical evolutionary history of human 4q35, 10q26 and 3p12 chromosome regions focusing on the D4Z4-Beta satellite linked organization. The D4Z4 unit showed an open reading frame (DUX4) at both PTR 4q35 and 3p12 regions; furthermore some subregions of the Beta satellite unit showed a high degree of conservation between chimpanzee and humans. In conclusion, this paper provides evidence that at the 4q subtelomere the linkage between D4Z4 and Beta satellite arrays is a feature that appeared late during evolution and is conserved between chimpanzee and humans. Copyright © 2012 Elsevier Inc. All rights reserved.

  20. q-Space Upsampling Using x-q Space Regularization.

    PubMed

    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).

  1. A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.

    PubMed

    Rodríguez, Laura; Bhatt, Samarth S; García-Castro, Mónica; Plasencia, Ana; Fernández-Toral, Joaquín; Abarca, Elena; de Bello Cioffi, Marcelo; Liehr, Thomas

    2014-02-10

    Until now, few cases of partial trisomy of 3q due to segregation error of parental balanced translocation and segregation of a duplicated deficient product resulting from parental pericentric inversion have been reported so far. Only five cases of chromosomal insertion malsegregation involving 3q region are available yet, thus making it relatively rare. In this case report, we are presenting a unique case of discontinuous partial trisomy of 3q26.1-q28 region which resulted from a segregation error of two insertions involving 3q26.1 to 3q27.3 and 3q28 regions with ~21Mb and ~2Mb sizes, respectively. The maternally inherited insertion was cytogenetically characterized as der(8)(8pter→8p22::3q26→3q27.3::3q28→3q28::8p22→8qter) and the patient's major clinical features involved Dandy Walker malformation, sub-aortic ventricular septal defect, upslanting palpebral fissures, clinodactyly, hirsutism, and prominent forehead. Besides, a review of the literature involving cases with similar chromosomal imbalances and cases with "3q-duplication syndrome" is also provided. Copyright © 2013 Elsevier B.V. All rights reserved.

  2. Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.

    PubMed

    Descartes, Maria; Hain, Julie Zenger; Conklin, Michael; Franklin, Judy; Mikhail, Fady M; Lachman, Ralph S; Nolet, Serge; Messiaen, Ludwine M

    2008-11-15

    Here we report on a patient with an interstitial deletion on the long(q) arm of chromosome 1 who presents with a unique constellation of anomalies including brachydactyly type E, Müllerian agenesis, growth hormone deficiency, as well as other abnormalities. We present the clinical details of this patient's presentation, the skeletal findings, and provide characterization of the deletion at the molecular level. We postulate that these skeletal anomalies are distinctive to 1q deletions involving the 1q24q25 region. (c) 2008 Wiley-Liss, Inc.

  3. A conserved START domain coenzyme Q-binding polypeptide is required for efficient Q biosynthesis, respiratory electron transport, and antioxidant function in Saccharomyces cerevisiae.

    PubMed

    Allan, Christopher M; Hill, Shauna; Morvaridi, Susan; Saiki, Ryoichi; Johnson, Jarrett S; Liau, Wei-Siang; Hirano, Kathleen; Kawashima, Tadashi; Ji, Ziming; Loo, Joseph A; Shepherd, Jennifer N; Clarke, Catherine F

    2013-04-01

    Coenzyme Qn (ubiquinone or Qn) is a redox active lipid composed of a fully substituted benzoquinone ring and a polyisoprenoid tail of n isoprene units. Saccharomyces cerevisiae coq1-coq9 mutants have defects in Q biosynthesis, lack Q6, are respiratory defective, and sensitive to stress imposed by polyunsaturated fatty acids. The hallmark phenotype of the Q-less yeast coq mutants is that respiration in isolated mitochondria can be rescued by the addition of Q2, a soluble Q analog. Yeast coq10 mutants share each of these phenotypes, with the surprising exception that they continue to produce Q6. Structure determination of the Caulobacter crescentus Coq10 homolog (CC1736) revealed a steroidogenic acute regulatory protein-related lipid transfer (START) domain, a hydrophobic tunnel known to bind specific lipids in other START domain family members. Here we show that purified CC1736 binds Q2, Q3, Q10, or demethoxy-Q3 in an equimolar ratio, but fails to bind 3-farnesyl-4-hydroxybenzoic acid, a farnesylated analog of an early Q-intermediate. Over-expression of C. crescentus CC1736 or COQ8 restores respiratory electron transport and antioxidant function of Q6 in the yeast coq10 null mutant. Studies with stable isotope ring precursors of Q reveal that early Q-biosynthetic intermediates accumulate in the coq10 mutant and de novo Q-biosynthesis is less efficient than in the wild-type yeast or rescued coq10 mutant. The results suggest that the Coq10 polypeptide:Q (protein:ligand) complex may serve essential functions in facilitating de novo Q biosynthesis and in delivering newly synthesized Q to one or more complexes of the respiratory electron transport chain. Copyright © 2012 Elsevier B.V. All rights reserved.

  4. A Conserved START Domain Coenzyme Q-binding Polypeptide is Required for Efficient Q Biosynthesis, Respiratory Electron Transport, and Antioxidant Function in Saccharomyces cerevisiae

    PubMed Central

    Morvaridi, Susan; Saiki, Ryoichi; Johnson, Jarrett S.; Liau, Wei-Siang; Hirano, Kathleen; Kawashima, Tadashi; Ji, Ziming; Loo, Joseph A.; Shepherd, Jennifer N.; Clarke, Catherine F.

    2014-01-01

    Coenzyme Qn (ubiquinone or Qn) is a redox active lipid composed of a fully substituted benzoquinone ring and a polyisoprenoid tail of n isoprene units. Saccharomyces cerevisiae coq1-coq9 mutants have defects in Q biosynthesis, lack Q6, are respiratory defective, and sensitive to stress imposed by polyunsaturated fatty acids. The hallmark phenotype of the Q-less yeast coq mutants is that respiration in isolated mitochondria can be rescued by the addition of Q2, a soluble Q analog. Yeast coq10 mutants share each of these phenotypes, with the surprising exception that they continue to produce Q6. Structure determination of the Caulobacter crescentus Coq10 homolog (CC1736) revealed a steroidogenic acute regulatory protein-related lipid transfer (START) domain, a hydrophobic tunnel known to bind specific lipids in other START domain family members. Here we show that purified CC1736 binds Q2, Q3, Q10, or demethoxy-Q3 in an equimolar ratio, but fails to bind 3-farnesyl-4-hydroxybenzoic acid, a farnesylated analog of an early Q-intermediate. Over-expression of C. crescentus CC1736 or COQ8 restores respiratory electron transport and antioxidant function of Q6 in the yeast coq10 null mutant. Studies with stable isotope ring precursors of Q reveal that early Q-biosynthetic intermediates accumulate in the coq10 mutant and de novo Q-biosynthesis is less efficient than in the wild-type yeast or rescued coq10 mutant. The results suggest that the Coq10 polypeptide:Q (protein:ligand) complex may serve essential functions in facilitating de novo Q biosynthesis and in delivering newly synthesized Q to one or more complexes of the respiratory electron transport chain. PMID:23270816

  5. Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35)☆

    PubMed Central

    Giussani, Marta; Cardone, Maria Francesca; Bodega, Beatrice; Ginelli, Enrico; Meneveri, Raffaella

    2012-01-01

    We performed a detailed genomic investigation of the chimpanzee locus syntenic to human chromosome 4q35.2, associated to the facioscapulohumeral dystrophy. Two contigs of approximately 150 kb and 200 kb were derived from PTR chromosomes 4q35 and 3p12, respectively: both regions showed a very similar sequence organization, including D4Z4 and Beta satellite linked clusters. Starting from these findings, we derived a hypothetical evolutionary history of human 4q35, 10q26 and 3p12 chromosome regions focusing on the D4Z4–Beta satellite linked organization. The D4Z4 unit showed an open reading frame (DUX4) at both PTR 4q35 and 3p12 regions; furthermore some subregions of the Beta satellite unit showed a high degree of conservation between chimpanzee and humans. In conclusion, this paper provides evidence that at the 4q subtelomere the linkage between D4Z4 and Beta satellite arrays is a feature that appeared late during evolution and is conserved between chimpanzee and humans. PMID:22824653

  6. A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3).

    PubMed

    Chen, Jun-Kun; Liu, Ping; Hu, Li-Qin; Xie, Qing; Huang, Quan-Fei; Liu, Hai-Liang

    2018-01-01

    Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing attention has been paid to the clinical application of the non-invasive detection of foetal sub-chromosomal duplications and deletions beyond common aneuploidies. A 32-year-old healthy pregnant woman was referred to the Medical Genetic Centre of Ganzhou Maternal and Child Health Care Hospital. As routine practice, ultrasound examination at a gestational age of 16 weeks showed that the foetus is normal. To avoid invasive prenatal diagnosis procedures, an NIPT was offered to further screen for common foetal chromosomal abnormalities. The result showed that there was an approximately 50.94 Mb duplication in p11.32-q21.2 of chromosome 18 and an approximately 58.46 Mb deletion in p22.33-p11.1 of chromosome X. In addition, the chromosome karyotypes of the parents and foetus were also analysed. Chromosome karyotype analysis results showed that foetal karyotype was 46,X,der(18), the maternal karyotype was 46,XX,t(X;18)(q13;q21.3), and the paternal karyotype revealed no obvious abnormality. In this case, we successfully detected a healthy pregnant woman with balanced translocation X;18(q13;q21.3) and described the foetal karyotype as 46,X,der(18)t(X;18)(q11;q21.1)mat. Our report illustrated these cases which present complex X;autosome balance translocation and X;autosome unbalance translocation which may contribute to severe clinical phenotypes. In addition, our report also proved that the interruption of genes in the Xq critical region is not only reason of primary infertility. Finally, we prompted that NIPT might play a role in the first trimester screening of sub-chromosomal rearrangement.

  7. Tsallis’ quantum q-fields

    NASA Astrophysics Data System (ADS)

    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.

  8. Biosynthesis of coenzyme Q in eukaryotes.

    PubMed

    Kawamukai, Makoto

    2016-01-01

    Coenzyme Q (CoQ) is a component of the electron transport chain that participates in aerobic cellular respiration to produce ATP. In addition, CoQ acts as an electron acceptor in several enzymatic reactions involving oxidation-reduction. Biosynthesis of CoQ has been investigated mainly in Escherichia coli and Saccharomyces cerevisiae, and the findings have been extended to various higher organisms, including plants and humans. Analyses in yeast have contributed greatly to current understanding of human diseases related to CoQ biosynthesis. To date, human genetic disorders related to mutations in eight COQ biosynthetic genes have been reported. In addition, the crystal structures of a number of proteins involved in CoQ synthesis have been solved, including those of IspB, UbiA, UbiD, UbiX, UbiI, Alr8543 (Coq4 homolog), Coq5, ADCK3, and COQ9. Over the last decade, knowledge of CoQ biosynthesis has accumulated, and striking advances in related human genetic disorders and the crystal structure of proteins required for CoQ synthesis have been made. This review focuses on the biosynthesis of CoQ in eukaryotes, with some comparisons to the process in prokaryotes.

  9. A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

    PubMed Central

    Elliott, J; Maltby, E L; Reynolds, B

    1993-01-01

    An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. Interstitial deletions of the long arm of chromosome 14 are extremely rare, but this case seems to confirm that the region q22 is specifically concerned with pituitary and eye development. Images PMID:7682620

  10. Identification of a Cryptic Insertion ins(11;X)(q23;q28q12) Resulting in a KMT2A-FLNA Fusion in a 13-Month-Old Child with Acute Myelomonocytic Leukemia.

    PubMed

    Lentes, Jana; Thomay, Kathrin; Schneider, Dominik T; Bernbeck, Benedikt; Reinhardt, Dirk; Marschalek, Rolf; Meyer, Claus; Schlegelberger, Brigitte; Göhring, Gudrun

    2016-01-01

    In pediatric acute myeloid leukemia (AML), chromosomal abnormalities leading to a disruption of the lysine methyltransferase 2A (KMT2A) gene in 11q23 are the most frequent rearrangements. Here, we report on the identification of a novel cryptic insertion, ins(11;X)(q23;q28q12), resulting in a translocation of the KMT2A gene in 11q23, leading to a KMT2A-FLNA fusion in a 13-month-old boy with de novo acute myelomonocytic leukemia, who died 38 days after diagnosis. The patient presented a complex karyotype 48∼49,Y,del(X)(q12),+del(X)(q12),+8,ins(11;X)(q23; q28q12),+19. The identified fusion gene was predicted to be out-of-frame (fusion of portions of KMT2A exon 11 with FLNA exon 11). However, RT-PCR experiments demonstrated that a potentially functional transcript was generated by alternative splicing where KMT2A exon 10 was spliced in-frame to the truncated FLNA exon 11. This case report helps to better understand the rare but potentially severe impact of KMT2A- FLNA fusions in infants with AML to improve prognostic stratification of therapy and clinical management. © 2017 S. Karger AG, Basel.

  11. New q-ary quantum MDS codes with distances bigger than q/2

    NASA Astrophysics Data System (ADS)

    He, Xianmang; Xu, Liqing; Chen, Hao

    2016-07-01

    The construction of quantum MDS codes has been studied by many authors. We refer to the table in page 1482 of (IEEE Trans Inf Theory 61(3):1474-1484, 2015) for known constructions. However, there have been constructed only a few q-ary quantum MDS [[n,n-2d+2,d

  12. De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.

    PubMed

    Lim, Byung Chan; Park, Woong Yang; Seo, Eul-Ju; Kim, Ki Joong; Hwang, Yong Seung; Chae, Jong Hee

    2011-05-01

    We report a case carrying a de novo interstitial deletion of chromosome 3q22-q25. The clinical phenotype of this case included blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. Contiguous heterozygous deletion of FOXL2, ATR, ZIC1, and ZIC4 was postulated as the causative mechanism of the clinical phenotype. The association of blepharophimosis, ptosis, and epicanthus inversus syndrome with developmental delay or mental retardation may be an indication for the use of brain imaging and chromosomal analysis capable of detecting chromosomal rearrangements encompassing several candidate genes.

  13. Physical mapping withing the tuberous sclerosis linkage group in region 9q32-q34

    SciTech Connect

    Harris, R.M.; Carter, N.P.; Griffiths, B.

    1993-02-01

    Pulsed-field gel electrophoresis and flow dot-blot analysis have been used to construct a physical map of the q32-q34 region of chromosome 9, where one of the loci responsible for tuberous sclerosis (TSC1) has been mapped by genetic linkage. Five linked groups of markers have been defined by pulsed-field gel electrophoresis. The orientation of these groups and the order of markers within them were determined by hybridization to flow-sorted dot blots derived from a panel of cell lines of chromosome 9 translocations to place probes proximal or distal to each breakpoint. The local map order 9q32-q34 derived by application of thismore » combination of techniques is as follows: centromere - ALAD-1.3 Mb-ORM/20 kb/D9S16-GSN-250 kb-C5-HXB-1.9 Mb-D9S21-AK1-1.4 Mb-SPTAN1-ASS-800-kb-ABL-2 Mb-D0S10/350 Kb/DBH-telomere. 48 refs., 6 figs., 4 figs.« less

  14. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

    PubMed Central

    2013-01-01

    Background The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Methods and results Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Conclusions Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS. PMID:23679990

  15. 31 CFR 30.6 - Q-6: How does a TARP recipient comply with the requirement under § 30.4 (Q-4) of this part that...

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 31 Money and Finance: Treasury 1 2013-07-01 2013-07-01 false Q-6: How does a TARP recipient comply with the requirement under § 30.4 (Q-4) of this part that the compensation committee discuss, evaluate... TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.6 Q-6: How does a TARP recipient comply...

  16. 31 CFR 30.6 - Q-6: How does a TARP recipient comply with the requirement under § 30.4 (Q-4) of this part that...

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 31 Money and Finance: Treasury 1 2014-07-01 2014-07-01 false Q-6: How does a TARP recipient comply with the requirement under § 30.4 (Q-4) of this part that the compensation committee discuss, evaluate... TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.6 Q-6: How does a TARP recipient comply...

  17. 31 CFR 30.6 - Q-6: How does a TARP recipient comply with the requirement under § 30.4 (Q-4) of this part that...

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 31 Money and Finance: Treasury 1 2011-07-01 2011-07-01 false Q-6: How does a TARP recipient comply with the requirement under § 30.4 (Q-4) of this part that the compensation committee discuss, evaluate... TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.6 Q-6: How does a TARP recipient comply...

  18. 31 CFR 30.6 - Q-6: How does a TARP recipient comply with the requirement under § 30.4 (Q-4) of this part that...

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 31 Money and Finance: Treasury 1 2012-07-01 2012-07-01 false Q-6: How does a TARP recipient comply with the requirement under § 30.4 (Q-4) of this part that the compensation committee discuss, evaluate... TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.6 Q-6: How does a TARP recipient comply...

  19. 31 CFR 30.5 - Q-5: How does a TARP recipient comply with the requirements under § 30.4 (Q-4) of this part that...

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 31 Money and Finance: Treasury 1 2012-07-01 2012-07-01 false Q-5: How does a TARP recipient comply with the requirements under § 30.4 (Q-4) of this part that the compensation committee discuss... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.5 Q-5: How does a TARP recipient comply with the...

  20. 31 CFR 30.5 - Q-5: How does a TARP recipient comply with the requirements under § 30.4 (Q-4) of this part that...

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 31 Money and Finance: Treasury 1 2014-07-01 2014-07-01 false Q-5: How does a TARP recipient comply with the requirements under § 30.4 (Q-4) of this part that the compensation committee discuss... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.5 Q-5: How does a TARP recipient comply with the...

  1. 31 CFR 30.5 - Q-5: How does a TARP recipient comply with the requirements under § 30.4 (Q-4) of this part that...

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 31 Money and Finance: Treasury 1 2013-07-01 2013-07-01 false Q-5: How does a TARP recipient comply with the requirements under § 30.4 (Q-4) of this part that the compensation committee discuss... STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.5 Q-5: How does a TARP recipient comply with the...

  2. q-Derivatives, quantization methods and q-algebras

    SciTech Connect

    Twarock, Reidun

    1998-12-15

    Using the example of Borel quantization on S{sup 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 {tau}. This extension is denoted as quasi-crystal Lie algebra, because thismore » 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.« less

  3. Chromosome 10q tetrasomy: First reported case

    SciTech Connect

    Blackston, R.D.; May, K.M.; Jones, F.D.

    1994-09-01

    While there are several reports of trisomy 10q (at least 35), we are not aware of previous cases of 10q tetrasomy. We present what we believe to be the initial report of such a case. R.J. is a 6 1/2 year old white male who presented with multiple dysmorphic features, marked articulation problems, hyperactivity, and developmental delays. He is the product of a term uncomplicated pregnancy. There was a normal spontaneous vaginal delivery with a birth weight of 6 lbs. 4oz. and length was 19 1/2 inch. Dysmorphic features include small size, an asymmetrically small head, low set ears withmore » overfolded helixes, bilateral ptosis, downslanting eyes, right eye esotropia, prominent nose, asymmetric facies, high palate, mild pectus excavatum deformity of chest, and hyperextensible elbow joints. The patient is in special needs classes for mildly mentally handicapped students. Chromosome analysis at a resolution of 800 bands revealed a complex rearrangement of chromosomes 10 and 11. The segment 10q25.3 to q16.3 appears to be inverted and duplicated within the long arm of chromosome 10 at band q25.3 and the same segment of chromosome 10 is present on the terminal end of the short arm of chromosome 11. There is no visible loss of material from chromosome 11. Fluorescence in situ hybridization was performed with a chromosome 10 specific {open_quotes}paint{close_quotes} to confirm that all of the material on the abnormal 10 and the material on the terminal short arm of 11 was from chromosome 10. Thus, it appears that the segment 10q25.3 to q26.3 is present in four copies. Parental chromosome studies are normal. We compared findings which differ in that the case of 10q tetrasomy did not have prenatal growth deficiency, microphthalmia, cleft palate, digital anomalies, heart, or renal defects. Whereas most cases of 10q trisomy are said to have severe mental deficiency, our case of 10q tetrasomy was only mildly delayed. We report this first apparent cited case of 10q tetrasomy.« less

  4. The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

    PubMed Central

    Urraca, Nora; Cleary, Julie; Brewer, Victoria; Pivnick, Eniko K; McVicar, Kathryn; Thibert, Ronald L; Schanen, N Carolyn; Esmer, Carmen; Lamport, Dustin; Reiter, Lawrence T

    2013-01-01

    Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum. PMID:23495136

  5. Impact of t(11;14)(q13;q32) on the outcome of autologous hematopoietic cell transplantation in multiple myeloma.

    PubMed

    Sasaki, Koji; Lu, Gary; Saliba, Rima M; Bashir, Qaiser; Hosing, Chitra; Popat, Uday; Shah, Nina; Parmar, Simrit; Dinh, Yvonne; Ahmed, Sairah; Shpall, Elizabeth J; Kebriaei, Partow; Shah, Jatin J; Orlowski, Robert Z; Champlin, Richard; Qazilbash, Muzaffar H

    2013-08-01

    The t(11;14)(q13;q32) translocation is seen in 15%-20% patients with multiple myeloma (MM). It generally is not associated with worse outcomes. We studied the impact of t(11;14)(q13;q32) on outcome in patients with MM who received high-dose chemotherapy followed by autologous hematopoietic stem cell transplantation (auto-HCT). Eligible patients underwent high-dose chemotherapy followed by auto-HCT at the M.D. Anderson Cancer Center between February 2000 and August 2010, and had conventional cytogenetic (CC) or fluorescence in situ hybridization (FISH) results available before auto-HCT (n = 993). The cohort was divided into 3 groups of patients: (1) normal (diploid by CC and negative by FISH; n = 869); (2) t(11;14)(q13;q32) by CC or FISH (n = 27); and (3) high-risk (HR) abnormalities by CC or FISH (n = 97). Of the 27 patients with t(11;14)(q13;q32), 18 had isolated t(11;14)(q13;q32) and 9 had concurrent HR abnormalities. The primary objective was to compare outcomes in patients with t(11;14)(q13;q32) and patients with diploid or HR markers detected by CC or FISH studies. The median duration of follow-up in surviving patients was 37 months. The 3-year progression-free survival (PFS) was 47% for the normal group, 27% for the t(11;14)(q13;q32) group, and 13% for the HR group (P < .00001). The 3-year OS was 83% for the normal group, 63% for the t(11;14)(q13;q32) group, and 34% for the HR group (P < .00001). On multivariate analysis, t(11;14)(q13;q32) and HR abnormalities by CC or FISH and relapsed disease at auto-HCT were associated with shorter PFS, whereas t(11;14)(q13;q32) and HR abnormalities by CC or FISH, β2 microglobulin of >3.5, and relapsed disease at the time of auto-HCT were associated with shorter OS. In conclusion, patients with t(11;14)(q13;q32) had worse outcomes than patients with normal CC or FISH studies, but better outcomes than patients with HR markers detected by CC or FISH studies. Copyright © 2013 American Society for Blood and

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

    NASA Astrophysics Data System (ADS)

    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.

  7. Primary and secondary CoQ(10) deficiencies in humans.

    PubMed

    Quinzii, Catarina M; Hirano, Michio

    2011-01-01

    CoQ(10) deficiencies are clinically and genetically heterogeneous. This syndrome has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pathogenic mutations have been identified in genes involved in the biosynthesis of CoQ(10) (primary CoQ(10) deficiencies) or in genes not directly related to CoQ(10) biosynthesis (secondary CoQ(10) deficiencies). Respiratory chain defects, ROS production, and apoptosis variably contribute to the pathogenesis of primary CoQ(10) deficiencies. Copyright © 2011 International Union of Biochemistry and Molecular Biology, Inc.

  8. 2Q NMR of 2H2O ordering at solid interfaces

    NASA Astrophysics Data System (ADS)

    Krivokhizhina, Tatiana V.; Wittebort, R. J.

    2014-06-01

    Solvent ordering at an interface can be studied by multiple-quantum NMR. Quantitative studies of 2H2O ordering require clean double-quantum (2Q) filtration and an analysis of 2Q buildup curves that accounts for relaxation and, if randomly oriented samples are used, the distribution of residual couplings. A pulse sequence with absorption mode detection is extended for separating coherences by order and measuring relaxation times such as the 2Q filtered T2. Coherence separation is used to verify 2Q filtration and the 2Q filtered T2 is required to extract the coupling from the 2Q buildup curve when it is unresolved. With our analysis, the coupling extracted from the buildup curve in 2H2O hydrated collagen was equivalent to the resolved coupling measured in the usual 1D experiment and the 2Q to 1Q signal ratio was in accord with theory. Application to buildup curves from 2H2O hydrated elastin, which has an unresolved coupling, revealed a large increase in the 2Q signal upon mechanical stretch that is due to an increase in the ordered water fraction while changes in the residual coupling and T2 are small.

  9. Investigation of surface wave amplitudes in 3-D velocity and 3-D Q models

    NASA Astrophysics Data System (ADS)

    Ruan, Y.; Zhou, Y.

    2010-12-01

    It has been long recognized that seismic amplitudes depend on both wave speed structures and anelasticity (Q) structures. However, the effects of lateral heterogeneities in wave speed and Q structures on seismic amplitudes has not been well understood. We investigate the effects of 3-D wave speed and 3-D anelasticity (Q) structures on surface-wave amplitudes based upon wave propagation simulations of twelve globally-distributed earthquakes and 801 stations in Earth models with and without lateral heterogeneities in wave speed and anelasticity using a Spectral Element Method (SEM). Our tomographic-like 3-D Q models are converted from a velocity model S20RTS using a set of reasonable mineralogical parameters, assuming lateral perturbations in both velocity and Q are due to temperature perturbations. Surface-wave amplitude variations of SEM seismograms are measured in the period range of 50--200 s using boxcar taper, cosine taper and Slepian multi-tapers. We calculate ray-theoretical predictions of surface-wave amplitude perturbations due to elastic focusing, attenuation, and anelastic focusing which respectively depend upon the second spatial derivative (''roughness'') of perturbations in phase velocity, 1/Q, and the roughness of perturbations in 1/Q. Both numerical experiments and theoretical calculations show that (1) for short-period (~ 50 s) surface waves, the effects of amplitude attenuation due to 3-D Q structures are comparable with elastic focusing effects due to 3-D wave speed structures; and (2) for long-period (> 100 s) surface waves, the effects of attenuation become much weaker than elastic focusing; and (3) elastic focusing effects are correlated with anelastic focusing at all periods due to the correlation between velocity and Q models; and (4) amplitude perturbations are depend on measurement techniques and therefore cannot be directly compared with ray-theoretical predictions because ray theory does not account for the effects of measurement

  10. Primary coenzyme Q10 (CoQ 10) deficiencies and related nephropathies.

    PubMed

    Ozaltin, Fatih

    2014-06-01

    Oxidative phosphorylation (OXPHOS) is a metabolic pathway that uses energy released by the oxidation of nutrients to generate adenosine triphosphate (ATP). Coenzyme Q10 (CoQ10), also known as ubiquinone, plays an essential role in the human body not only by generating ATP in the mitochondrial respiratory chain but also by providing protection from reactive oxygen species (ROS) and functioning in the activation of many mitochondrial dehydrogenases and enzymes required in pyrimidine nucleoside biosynthesis. The presentations of primary CoQ10 deficiencies caused by genetic mutations are very heterogeneous. The phenotypes related to energy depletion or ROS production may depend on the content of CoQ10 in the cell, which is determined by the severity of the mutation. Primary CoQ10 deficiency is unique among mitochondrial disorders because early supplementation with CoQ10 can prevent the onset of neurological and renal manifestations. In this review I summarize primary CoQ10 deficiencies caused by various genetic abnormalities, emphasizing its nephropathic form.

  11. Flavor unity in SU(7): Low-mass magnetic monopole, doubly charged lepton,and Q = 5/3,-4/3 quarks

    SciTech Connect

    Kim, J.E.

    1981-06-01

    A specific flavor unification is suggested in the SU(7) gauge group. This model can be trivially extended to O(14). A global symmetry GAMMA forbids mixings of the b (Q = -1/3) quark with the d and s quarks, and of the t (Q = 2/3) quark with the u and c quarks. Since the b and t quarks carry different GAMMA quantum numbers, they do not belong to the same SU(2)/sub L/ doublet. A mechanism for the GAMMA-symmetry violation is suggested, which allows c-t mixing without b-quark mixing. There are unconventionally charged light (masses < or approx. =300 GeV) fermions:more » a doubly charged lepton T/sup - -/, a Q = -4/3 quark x, and a Q = 5/3 quark y. The bare value of the Weinberg angle sin/sup 2/theta/sup 0//sub W/ = 3/20 is renormalized to the low-energy value by introducing an intermediate mass scale M/sub 1/. A topologically stable magnetic monopole is light (massroughly-equalM/sub 1//..cap alpha..) and hence there does not exist a conflict arising from the grand unified theories and the hot-big-bang cosmology.« less

  12. High resolution chromosome 3p, 8p, 9q and 22q allelotyping analysis in the pathogenesis of gallbladder carcinoma

    PubMed Central

    Wistuba, I I; Maitra, A; Carrasco, R; Tang, M; Troncoso, P; Minna, J D; Gazdar, A F

    2002-01-01

    Our recent genome-wide allelotyping analysis of gallbladder carcinoma identified 3p, 8p, 9q and 22q as chromosomal regions with frequent loss of heterozygosity. The present study was undertaken to more precisely identify the presence and location of regions of frequent allele loss involving those chromosomes in gallbladder carcinoma. Microdissected tissue from 24 gallbladder carcinoma were analysed for PCR-based loss of heterozygosity using 81 microsatellite markers spanning chromosome 3p (n=26), 8p (n=14), 9q (n=29) and 22q (n=12) regions. We also studied the role of those allele losses in gallbladder carcinoma pathogenesis by examining 45 microdissected normal and dysplastic gallbladder epithelia accompanying gallbladder carcinoma, using 17 microsatellite markers. Overall frequencies of loss of heterozygosity at 3p (100%), 8p (100%), 9q (88%), and 22q (92%) sites were very high in gallbladder carcinoma, and we identified 13 distinct regions undergoing frequent loss of heterozygosity in tumours. Allele losses were frequently detected in normal and dysplastic gallbladder epithelia. There was a progressive increase of the overall loss of heterozygosity frequency with increasing severity of histopathological changes. Allele losses were not random and followed a sequence. This study refines several distinct chromosome 3p, 8p, 9q and 22q regions undergoing frequent allele loss in gallbladder carcinoma that will aid in the positional identification of tumour suppressor genes involved in gallbladder carcinoma pathogenesis. British Journal of Cancer (2002) 87, 432–440. doi:10.1038/sj.bjc.6600490 www.bjcancer.com © 2002 Cancer Research UK PMID:12177780

  13. Deletion 22q13.3 syndrome.

    PubMed

    Phelan, Mary C

    2008-05-27

    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. Individuals with

  14. Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q

    SciTech Connect

    Koiffmann, C.P.; Vianna-Morgante, A.M.; Wajntal, A.

    Deletion 11q23{r_arrow}qter and duplication 12q23{r_arrow}qter are described in a boy with neuroblastoma, multiple congenital anomalies, and mental retardation. The patient has clinical manifestations of 11q deletion and 12q duplication syndromes. The possible involvement of the segment 11q23{r_arrow}24 in the cause of the neuroblastoma is discussed. 18 refs., 2 figs., 1 tab.

  15. 22q11.2 deletion syndrome in diverse populations.

    PubMed

    Kruszka, Paul; Addissie, Yonit A; McGinn, Daniel E; Porras, Antonio R; Biggs, Elijah; Share, Matthew; Crowley, T Blaine; Chung, Brian H Y; Mok, Gary T K; Mak, Christopher C Y; Muthukumarasamy, Premala; Thong, Meow-Keong; Sirisena, Nirmala D; Dissanayake, Vajira H W; Paththinige, C Sampath; Prabodha, L B Lahiru; Mishra, Rupesh; Shotelersuk, Vorasuk; Ekure, Ekanem Nsikak; Sokunbi, Ogochukwu Jidechukwu; Kalu, Nnenna; Ferreira, Carlos R; Duncan, Jordann-Mishael; Patil, Siddaramappa Jagdish; Jones, Kelly L; Kaplan, Julie D; Abdul-Rahman, Omar A; Uwineza, Annette; Mutesa, Leon; Moresco, Angélica; Obregon, María Gabriela; Richieri-Costa, Antonio; Gil-da-Silva-Lopes, Vera L; Adeyemo, Adebowale A; Summar, Marshall; Zackai, Elaine H; McDonald-McGinn, Donna M; Linguraru, Marius George; Muenke, Maximilian

    2017-04-01

    22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (P < 0.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (P ≥ 0.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world. © 2017 Wiley Periodicals, Inc.

  16. [Clinical significance of Q-angle under different conditions in recurrent patellar dislocation].

    PubMed

    Wang, Zhijie; Chen, You; Li, Anping; Long, Yi

    2014-01-01

    To investigate the clinical significance of Q-angle measuring under different conditions in female recurrent patellar dislocation female patients. Between August 2012 and March 2013, 10 female patients (11 knees) with recurrent patellar dislocation were collected as trial group; 20 female patients (20 knees) with simple meniscus injury were collected as control group at the same time. Q-angle was measured in extension, 30 degrees flexion, 30 degrees flexion with manual correction, and surgical correction in the trial group, and only in extension and 30 degrees flexion in the control group. Then the difference value of Q-angle between extension and 30 degrees flexion (Q-angle in extension subtracts Q-angle in 30 flexion) were calculated. Independent sample t-test was used to analyze Q-angle degrees in extension, 30 degrees flexion, and the changed degrees of 2 groups. The Q-angle between manual correction and surgical correction of the trial group was analyzed by paired t-test. The Q-angle in extension, Q-angle in 30 degrees flexion, and difference value of Q-angle between extension and 30 degrees flexion were (17.2 +/- 3.6), (14.3 +/- 3.0), and (2.9 +/- 1.9) degrees in the trial group and were (15.2 +/- 3.4), (14.4 +/- 3.5), and (0.8 +/- 1.7) degrees in the control group. No significant difference was found in Q-angle of extension or Q-angle of 30 degrees flexion between 2 groups (P > 0.05), but the difference value of Q-angle between extension and 30 degrees flexion in the trial group was significantly larger than that in the control group (t = 3.253, P = 0.003). The Q-angle in 30 degrees flexion with manual correction and surgical correction in the trial group was (19.8 +/- 3.4) degrees and (18.9 +/- 3.8) degrees respectively, showing no significant difference (t = 2.193, P = 0.053). When a female patient's Q-angle in 30 degrees flexion knee changes obviously compared with Q-angle in extension position, recurrent patellar dislocation should be considered. For

  17. Partial trisomy 14q and monosomy 20q due to an unbalanced familial translocation

    SciTech Connect

    Menasse-Palmer, L; Leo, J.; Cannizaro, L.

    Partial trisomy of distal 14q and monosomy of 20q are rare. There have been several reports of a partial distal trisomy 14q with characteristic clinical findings, including hypogonadism and a conotruncal cardiac anomaly. There is no deletion distal 20q syndrome. We have recently examined a newborn with this unique duplication/deletion syndrome. Case report: J.S. was the 2980 gm product of a term uneventful pregnancy delivered to a 24-year-old gravida 2, para 1001 mother. The newborn exam revealed a dysmorphic newborn male with a sloping forehead, bitemporal narrowing, glabellar furrowing and micrognathia. A systolic murmur was audible. The genital abnormalities weremore » micropenis, hypospadias with chordee and bifid scrotum with prominent raphe, and gonads were palpable. A CAT scan of the head revealed grade I IVH. An echocardiogram showed a VSD, ASD and an AP window. A sonogram of the liver showed absence of the gallbladder. Chromosome analysis revealed an abnormal male karyotype containing a derivative 20, subsequently shown to be inherited as a result of malsegregation of a paternal translocation: 46,XY,-20,+der(20)t(14;20)(q32.1;q13.3)pat. The infant fed poorly and required tube feedings and was treated for congestive heart failure with Digoxin, Lasix and oxygen. A decreased cortisol level and cholestasis were noted. The infant died after a cardiopulmonary arrest at one month of age. No post-mortem was obtained. Clinical cytogenetic correlation (conotruncal abnormality and hypogonadism) with partial duplication of distal 14q was positive. This case helps to further delineate duplication 14q and a syndrome due to partial deletion 20q.« less

  18. Cations SkQ1 and MitoQ accumulated in mitochondria delay opening of ascorbate/FeSO4-induced nonspecific pore in the inner mitochondrial membrane.

    PubMed

    Khailova, L S; Dedukhova, V I; Mokhova, E N

    2008-10-01

    It is known that an addition of FeSO4 in the presence of ascorbic acid to cells or mitochondria can injure energy coupling and some other functions in mitochondria. The present study demonstrates that decrease in ascorbate concentration from 4 to 0.2 mM in the presence of the same low concentrations of FeSO4 accelerates the nonspecific pore opening, while cyclosporin A prevents and under some conditions reverses the pore opening. Hydrophobic cations SkQ1 and MitoQ (structural analogs of plastoquinone and coenzyme Q(10), respectively) delay pore opening, SkQ1 being more efficient. It is known that an increase in matrix ADP concentration delays pore opening, while an addition of carboxyatractylate to mitochondria accelerates the beginning of pore opening. Preliminary addition of SkQ1 into a mitochondrial suspension increased the effect of ADP and decreased the effect of carboxyatractylate. These results suggest that under the conditions used SkQ1 protects mitochondria from oxidative damage as an antioxidant when added at extremely low concentrations.

  19. Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration.

    PubMed

    Balanovsky, Oleg; Gurianov, Vladimir; Zaporozhchenko, Valery; Balaganskaya, Olga; Urasin, Vadim; Zhabagin, Maxat; Grugni, Viola; Canada, Rebekah; Al-Zahery, Nadia; Raveane, Alessandro; Wen, Shao-Qing; Yan, Shi; Wang, Xianpin; Zalloua, Pierre; Marafi, Abdullah; Koshel, Sergey; Semino, Ornella; Tyler-Smith, Chris; Balanovska, Elena

    2017-02-07

    The Y-chromosome haplogroup Q has three major branches: Q1, Q2, and Q3. Q1 is found in both Asia and the Americas where it accounts for about 90% of indigenous Native American Y-chromosomes; Q2 is found in North and Central Asia; but little is known about the third branch, Q3, also named Q1b-L275. Here, we combined the efforts of population geneticists and genetic genealogists to use the potential of full Y-chromosome sequencing for reconstructing haplogroup Q3 phylogeography and suggest possible linkages to events in population history. We analyzed 47 fully sequenced Y-chromosomes and reconstructed the haplogroup Q3 phylogenetic tree in detail. Haplogroup Q3-L275, derived from the oldest known split within Eurasian/American haplogroup Q, most likely occurred in West or Central Asia in the Upper Paleolithic period. During the Mesolithic and Neolithic epochs, Q3 remained a minor component of the West Asian Y-chromosome pool and gave rise to five branches (Q3a to Q3e), which spread across West, Central and parts of South Asia. Around 3-4 millennia ago (Bronze Age), the Q3a branch underwent a rapid expansion, splitting into seven branches, some of which entered Europe. One of these branches, Q3a1, was acquired by a population ancestral to Ashkenazi Jews and grew within this population during the 1st millennium AD, reaching up to 5% in present day Ashkenazi. This study dataset was generated by a massive Y-chromosome genotyping effort in the genetic genealogy community, and phylogeographic patterns were revealed by a collaboration of population geneticists and genetic genealogists. This positive experience of collaboration between academic and citizen science provides a model for further joint projects. Merging data and skills of academic and citizen science promises to combine, respectively, quality and quantity, generalization and specialization, and achieve a well-balanced and careful interpretation of the paternal-side history of human populations.

  20. Loss of 11q and 16q in Wilms tumors is associated with anaplasia, tumor recurrence, and poor prognosis.

    PubMed

    Wittmann, Stefanie; Zirn, Birgit; Alkassar, Muhannad; Ambros, Peter; Graf, Norbert; Gessler, Manfred

    2007-02-01

    Allele loss of chromosome arms 11q and 16q in Wilms tumors has been associated with different clinical parameters in prior studies. To substantiate these findings in a large collection of tumors treated according to the GPOH/SIOP protocol and to narrow down critical regions, we performed loss of heterozygosity (LOH) analyses of chromosome arms 11q and 16q on 225 Wilms tumors. On chromosome arm 11q an overall rate of allele loss of 19.6% (44 of 225 tumors) was found using eleven markers that were almost evenly distributed along the long arm. Chromosome arm 16q was analyzed with six markers selected from gene-rich regions that identified an LOH rate of 18.4% (41/223). Evaluation of LOH with respect to clinical data revealed significant associations of LOH 11q with histology: LOH 11q was 3-4 times more frequent in mixed type and diffuse anaplastic tumors. In contrast, epithelial as well as stromal type tumors never exhibited allele loss on 11q. Furthermore, a significant correlation with tumor recurrence and death was detected, but only for tumors that lost the entire long arm of chromosome 11. Similarly, LOH 16q was correlated with higher risks of later relapse, especially in tumors with complete loss of the long arm. Hence, analyses of LOH on 11q and 16q appear to be helpful to identify tumors with a higher risk of relapse and adverse outcome, which need adjusted therapeutic approaches. Copyright 2006 Wiley-Liss, Inc.

  1. Hidden correlations entailed by q-non additivity render the q-monoatomic gas highly non trivial

    NASA Astrophysics Data System (ADS)

    Plastino, A.; Rocca, M. C.

    2018-01-01

    It ts known that Tsallis' q-non-additivity entails hidden correlations. It has also been shown that even for a monoatomic gas, both the q-partition function Z and the mean energy 〈 U 〉 diverge and, in particular, exhibit poles for certain values of the Tsallis non additivity parameter q. This happens because Z and 〈 U 〉 both depend on a Γ-function. This Γ, in turn, depends upon the spatial dimension ν. We encounter three different regimes according to the argument A of the Γ-function. (1) A > 0, (2) A < 0 and Γ > 0 outside the poles. (3) A displays poles and the physics is obtained via dimensional regularization. In cases (2) and (3) one discovers gravitational effects and quartets of particles. Moreover, bound states and gravitational effects emerge as a consequence of the hidden q-correlations.

  2. Study of two patients with craniosynostosis and deletions of 11q: One with features of Saethre-Chotzen syndrome and the other with concomitant partial trisomy 4q

    SciTech Connect

    Morsey, S.; Lewanda, A.F.; Reid, C.S.

    1994-09-01

    Partial monosomy 11q is associated with metopic craniosynostosis and trigonocephaly. Prominant features in the over 30 reported cases include downslanting palpebral fissures, epicanthal folds, hypertelorism, ptosis, wide/depressed nasal bridge, low set malformed ears, downturned mouth, micro/retrognathia, digital and cardiac anomalies and psychomotor retardation. We evaluated two patients referred for abnormal head shape. The first carried a diagnosis of Saethre-Chotzen syndrome due to brachycephaly, facial asymmetry, ptosis, cupped ears, sundactyly of 2nd and 3rd digits, developmental delay, and VSD. Karyotype revealed 46,XY,del(11)(q24.1{yields}qter). No abnormality was noted of chromosome 7p, where the Saethre-Chotzen syndrome locus has been mapped. This suggests genetic heterogeneitymore » for this condition. The second patient had no prior diagnosis. He had trigonocephaly, bilateral cryptorchidism and inguinal hernias. He also had hypotelorism, epicanthal folds, synophrys, posteriorly rotated ears, horizontal crease below his lower lip, unilateral single palmar crease, mild soft tissue syndactyly and a shawl scrotum. His karyotype of 46,XY,-11,+der(11)t(4;11)(q31.3;q25) revealed both partial 11q monosomy and partial 4q trisomy (the latter associated with cryptorchidism, horizontal chin crease and single palmar crease). Deletions of 11q appear to produce a wide spectrum of defects, which may even mimic other known craniosynostotic conditions. Study of these patients may lead to the identification of new genes involved in craniofacial morphogenesis.« less

  3. ProQ3: Improved model quality assessments using Rosetta energy terms

    PubMed Central

    Uziela, Karolis; Shu, Nanjiang; Wallner, Björn; Elofsson, Arne

    2016-01-01

    Quality assessment of protein models using no other information than the structure of the model itself has been shown to be useful for structure prediction. Here, we introduce two novel methods, ProQRosFA and ProQRosCen, inspired by the state-of-art method ProQ2, but using a completely different description of a protein model. ProQ2 uses contacts and other features calculated from a model, while the new predictors are based on Rosetta energies: ProQRosFA uses the full-atom energy function that takes into account all atoms, while ProQRosCen uses the coarse-grained centroid energy function. The two new predictors also include residue conservation and terms corresponding to the agreement of a model with predicted secondary structure and surface area, as in ProQ2. We show that the performance of these predictors is on par with ProQ2 and significantly better than all other model quality assessment programs. Furthermore, we show that combining the input features from all three predictors, the resulting predictor ProQ3 performs better than any of the individual methods. ProQ3, ProQRosFA and ProQRosCen are freely available both as a webserver and stand-alone programs at http://proq3.bioinfo.se/. PMID:27698390

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

    PubMed

    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.

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

    NASA Astrophysics Data System (ADS)

    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.

  6. On the p, q-binomial distribution and the Ising model

    NASA Astrophysics Data System (ADS)

    Lundow, P. H.; Rosengren, A.

    2010-08-01

    We employ p, q-binomial coefficients, a generalisation of the binomial coefficients, to describe the magnetisation distributions of the Ising model. For the complete graph this distribution corresponds exactly to the limit case p = q. We apply our investigation to the simple d-dimensional lattices for d = 1, 2, 3, 4, 5 and fit p, q-binomial distributions to our data, some of which are exact but most are sampled. For d = 1 and d = 5, the magnetisation distributions are remarkably well-fitted by p,q-binomial distributions. For d = 4 we are only slightly less successful, while for d = 2, 3 we see some deviations (with exceptions!) between the p, q-binomial and the Ising distribution. However, at certain temperatures near T c the statistical moments of the fitted distribution agree with the moments of the sampled data within the precision of sampling. We begin the paper by giving results of the behaviour of the p, q-distribution and its moment growth exponents given a certain parameterisation of p, q. Since the moment exponents are known for the Ising model (or at least approximately for d = 3) we can predict how p, q should behave and compare this to our measured p, q. The results speak in favour of the p, q-binomial distribution's correctness regarding its general behaviour in comparison to the Ising model. The full extent to which they correctly model the Ising distribution, however, is not settled.

  7. Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.

    PubMed

    Murphy, Melissa M; Lindsey Burrell, T; Cubells, Joseph F; España, Roberto Antonio; Gambello, Michael J; Goines, Katrina C B; Klaiman, Cheryl; Li, Longchuan; Novacek, Derek M; Papetti, Ava; Sanchez Russo, Rossana Lucia; Saulnier, Celine A; Shultz, Sarah; Walker, Elaine; Mulle, Jennifer Gladys

    2018-06-08

    3q29 deletion syndrome is caused by a recurrent hemizygous 1.6 Mb deletion on the long arm of chromosome 3. The syndrome is rare (1 in 30,000 individuals) and is associated with mild to moderate intellectual disability, increased risk for autism and anxiety, and a 40-fold increased risk for schizophrenia, along with a host of physical manifestations. However, the disorder is poorly characterized, the range of manifestations is not well described, and the underlying molecular mechanism is not understood. We designed the Emory 3q29 Project to document the range of neurodevelopmental and psychiatric manifestations associated with 3q29 deletion syndrome. We will also create a biobank of samples from our 3q29 deletion carriers for mechanistic studies, which will be a publicly-available resource for qualified investigators. The ultimate goals of our study are three-fold: first, to improve management and treatment of 3q29 deletion syndrome. Second, to uncover the molecular mechanism of the disorder. Third, to enable cross-disorder comparison with other rare genetic syndromes associated with neuropsychiatric phenotypes. We will ascertain study subjects, age 6 and older, from our existing registry ( 3q29deletion.org ). Participants and their families will travel to Atlanta, GA for phenotypic assessments, with particular emphasis on evaluation of anxiety, cognitive ability, autism symptomatology, and risk for psychosis via prodromal symptoms and syndromes. Evaluations will be performed using standardized instruments. Structural, diffusion, and resting-state functional MRI data will be collected from eligible study participants. We will also collect blood from the 3q29 deletion carrier and participating family members, to be banked at the NIMH Repository and Genomics Resource (NRGR). The study of 3q29 deletion has the potential to transform our understanding of complex disease. Study of individuals with the deletion may provide insights into long term care and management of

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

    PubMed Central

    2016-01-01

    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 × 104 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. PMID:27599156

  9. A-O Q-switching of 2.1-μm laser

    NASA Astrophysics Data System (ADS)

    Zheng, Jia; Liu, Jingjiao; Tang, Yi; Hu, Yongzhao

    2005-01-01

    2.1μm solid state laser operating at room temperature is a very useful laser source for optical communication, medical care, air pollution monitoring and Lidar, etc. It is eye-safe. It is also a very ideal pump source for optic parametric oscillator to get 3μm -5μm radiation. In order to further explore its potential applications, higher peak power and shorter pulse width are very desirable. Q-switching the laser is a most practical way to realize those goals. Among the most common used Q-switching techniques, mechanical Q-switching is not preferred due to that it involves use of a rotating motor, which has lower life time and causes undesirable vibration. E-O Q-switch material in this wavelength range is very expensive and quite susceptible to optical damage. On the other hand, low OH concentration quartz material exhibits very low absorption at the 2.1μm. The Cr:Tm:Ho:YAG 2.1μm laser has undesirable lower gain from the laser efficiency point of view, but offers a feasibility of using the A-O device for the Q-switching even the laser is pulse pumped. The Cr:Tm:Ho:YAG 2.1μm laser is a so called quasi-three level laser, which is characterized as having a higher threshold and lower gain. This study is focused on the optimization of the laser resonator design and the A-O Q-switch design for a higher laser peak power and shorter pulse width. Factors considered in the study include AO Q-switch"s RF frequency, modulation depth, active aperture, resonator length, resonator loss and pumping design, etc. Experiment results are compared with the Q-switched quasi-three level laser model. Final result of the Q-switched 2.1μm laser after preliminary optimization will be presented.

  10. Nuclear medium effects in structure functions of nucleon at moderate Q2

    NASA Astrophysics Data System (ADS)

    Haider, H.; Zaidi, F.; Sajjad Athar, M.; Singh, S. K.; Ruiz Simo, I.

    2015-11-01

    Recent experiments performed on inclusive electron scattering from nuclear targets have measured the nucleon electromagnetic structure functions F1 (x ,Q2), F2 (x ,Q2) and FL (x ,Q2) in 12C, 27Al, 56Fe and 64Cu nuclei. The measurements have been done in the energy region of 1 GeV2 2 < 4 GeV2 and Q2 region of 0.5 GeV2 <Q2 < 4 .5 GeV2. We have calculated nuclear medium effects in these structure functions arising due to the Fermi motion, binding energy, nucleon correlations, mesonic contributions from pion and rho mesons and shadowing effects. The calculations are performed in a local density approximation using a relativistic nucleon spectral function which includes nucleon correlations. The numerical results are compared with the recent experimental data from JLab and also with some earlier experiments.

  11. Unified picture of Q-balls and boson stars via catastrophe theory

    SciTech Connect

    Tamaki, Takashi; Sakai, Nobuyuki; Department of Education, Yamagata University, Yamagata 990-8560

    2010-06-15

    We make an analysis of Q-balls and boson stars using catastrophe theory, as an extension of the previous work on Q-balls in flat spacetime. We adopt the potential V{sub 3}({phi})=(m{sup 2}/2){phi}{sup 2}-{mu}{phi}{sup 3}+{lambda}{phi}{sup 4} for Q-balls and that with {mu}=0 for boson stars. For solutions with |g{sup rr}-1|{approx}1 at its peak, stability of Q-balls has been lost regardless of the potential parameters. As a result, phase relations, such as a Q-ball charge versus a total Hamiltonian energy, approach those of boson stars, which gives us a unified picture of Q-balls and boson stars.

  12. Role of immunoglobulin G subclasses in Q fever.

    PubMed

    Camacho, M T; Outschoorn, I; Tellez, A

    1995-12-01

    The progression of Q fever to either acute or chronic disease has been attributed both to biological characteristics of the bacteria and to the host immune response. In order to determine whether a specific immunoglobulin G (IgG) subclass distribution could play a diagnostic or prognostic role in Q fever, IgG subclass levels were measured in patients with acute or chronic disease. It was observed that (i) IgG1 and IgG3 levels were elevated in patients with chronic Q fever compared to patients with acute disease or normal controls; (ii) variations over time reflected inverse complementary relationships of subclass levels, such as between IgG1 and IgG3 compared with IgG2 and IgG4, or an inverse relationship between IgG1 and IgG2; (iii) variations in IgG2 and IgG3 total subclass levels during follow-up of patients with chronic Q fever showed a decrease in IgG2 with a concomitant increase in IgG3 two years from disease onset. These findings indicate that measurements of IgG subclasses may be a simple, additional tool useful in the diagnosis of Q fever. This data raises the question of an unusual immunoregulatory mechanism in Q fever that is implicated in the presentation of the clinical disease.

  13. A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability.

    PubMed

    Yuan, Haiming; Meng, Zhe; Zhang, Lina; Luo, Xiangyang; Liu, Liping; Chen, Mengfan; Li, Xinwei; Zhao, Weiwei; Liang, Liyang

    2016-01-01

    Interstitial duplications distal to 15q13 are very rare. Here, we reported a 14-year-old boy with severe short stature, delayed bone age, hypogonadism, global developmental delay and intellectual disability. His had distinctive facial features including macrocephaly, broad forehead, deep-set and widely spaced eyes, broad nose bridge, shallow philtrum and thick lips. A de novo 6.4 Mb interstitial duplication of 15q15.3q21.2 was detected by chromosomal microarray analysis. We compared our patient's clinical phenotypes with those of several individuals with overlapping duplications and several candidate genes responsible for the phenotypes were identified as well. The results suggest a novel contiguous gene duplication syndrome characterized with shared features including short stature, hypogonadism, global developmental delay and other congenital anomalies.

  14. Effects of weak/non-complement-binding HLA antibodies on C1q-binding.

    PubMed

    Hönger, G; Amico, P; Arnold, M-L; Spriewald, B M; Schaub, S

    2017-08-01

    It is unknown under what conditions and to what extent weak/non-complement (C)-binding IgG subclasses (IgG2/IgG4) can block C1q-binding triggered by C-binding IgG subclasses (IgG1/IgG3). Therefore, we investigated in vitro C1q-binding induced by IgG subclass mixtures targeting the same HLA epitope. Various mixtures of HLA class II specific monoclonal antibodies of different IgG subclasses but identical V-region were incubated with HLA DRB1*07:01 beads and monitored for C1q-binding. The lowest concentration to achieve maximum C1q-binding was measured for IgG3, followed by IgG1, while IgG2 and IgG4 did not show appreciable C1q-binding. C1q-binding occurred only after a critical amount of IgG1/3 has bound and sharply increased thereafter. When both, C-binding and weak/non-C-binding IgG subclasses were mixed, C1q-binding was diminished proportionally to the fraction of IgG2/4. A 2- to 4-fold excess of IgG2/4 inhibited C1q-binding by 50%. Very high levels (10-fold excess) almost completely abrogated C1q-binding even in the presence of significant IgG1/3 levels that would usually lead to strong C1q-binding. In sensitized renal allograft recipients, IgG subclass constellations with ≥ 2-fold excess of IgG2/4 over IgG1/3 were present in 23/66 patients (34.8%) and overall revealed slightly decreased C1q signals. However, spiking of patient sera with IgG2 targeting a different epitope than the patient's IgG1/3 synergistically increased C1q-binding. In conclusion, if targeting the same epitope, an excess of IgG2/4 is repressing the extent of IgG1/3 triggered C1q-binding in vitro. Such IgG subclass constellations are present in about a third of sensitized patients and their net effect on C1q-binding is slightly inhibitory. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Distal 22q11.2 microduplication encompassing the BCR gene.

    PubMed

    Descartes, Maria; Franklin, Judy; Diaz de Ståhl, Teresita; Piotrowski, Arkadiusz; Bruder, Carl E G; Dumanski, Jan P; Carroll, Andrew J; Mikhail, Fady M

    2008-12-01

    Chromosome 22 band q11.2 has been recognized to be highly susceptible to subtle microdeletions and microduplications, which have been attributed to the presence of several large segmental duplications; also known as low copy repeats (LCRs). These LCRs function as mediators of non-allelic homologous recombination (NAHR), which results in these chromosomal rearrangements as a result of unequal crossover. The four centromeric LCRs at proximal 22q11.2 have been previously implicated in recurrent chromosomal rearrangements including the DiGeorge/Velocardiofacial syndrome (DG/VCFs) microdeletion and its reciprocal microduplication. Recently, we and others have demonstrated that the four telomeric LCRs at distal 22q11.2 are causally implicated in a newly recognized recurrent distal 22q11.2 microdeletion syndrome in the region immediately telomeric to the DG/VCFs typically deleted region. Here we report on the clinical, cytogenetic, and array CGH studies of a 4.5-year-old girl with history of failure to thrive, developmental delay (DD), and relative macrocephaly. She carries a paternally inherited approximately 2.1 Mb microduplication at distal 22q11.2, which spans approximately 34 annotated genes, and is flanked by two of the four telomeric 22q11.2 LCRs. We conclude that the four telomeric LCRs at distal 22q11.2 can mediate both deletions and duplications in this genomic region. Both deletions and duplication of this region present with subtle clinical features including mild to moderate mental retardation, DD, and mild dysmorphic features. Copyright (c) 2008 Wiley-Liss, Inc.

  16. 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

    PubMed Central

    Cho, Eun-Kyung; Kim, Jinsup; Yang, Aram; Jin, Dong-Kyu

    2017-01-01

    Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously. The patient exhibited the characteristic facial appearance (a flat nasal bridge, deep-set eyes, arched eyebrows, and a thin upper lip), developmental delay, mild mental retardation, peripheral nerve palsy, and Albright hereditary osteodystrophy (AHO)-like phenotypes (short stature and brachydactyly). Conventional chromosomal analysis results were normal; however, microarray-based comparative genomic hybridization revealed terminal deletion at 2q37.1q37.3. In addition, the patient was confirmed to have partial growth hormone (GH) deficiency and had shown a significant increase in growth rate after substitutive GH therapy. Chromosome 2q37 deletion syndrome should be considered in the differential diagnosis of patients presenting with AHO features, especially in the presence of facial dysmorphism. When patients are suspected of having a 2q37 deletion, high-resolution cytogenetic analysis is recommended. PMID:28690993

  17. Common variants at 12q14 and 12q24 are associated with hippocampal volume.

    PubMed

    Bis, Joshua C; DeCarli, Charles; Smith, Albert Vernon; van der Lijn, Fedde; Crivello, Fabrice; Fornage, Myriam; Debette, Stephanie; Shulman, Joshua M; Schmidt, Helena; Srikanth, Velandai; Schuur, Maaike; Yu, Lei; Choi, Seung-Hoan; Sigurdsson, Sigurdur; Verhaaren, Benjamin F J; DeStefano, Anita L; Lambert, Jean-Charles; Jack, Clifford R; Struchalin, Maksim; Stankovich, Jim; Ibrahim-Verbaas, Carla A; Fleischman, Debra; Zijdenbos, Alex; den Heijer, Tom; Mazoyer, Bernard; Coker, Laura H; Enzinger, Christian; Danoy, Patrick; Amin, Najaf; Arfanakis, Konstantinos; van Buchem, Mark A; de Bruijn, Renée F A G; Beiser, Alexa; Dufouil, Carole; Huang, Juebin; Cavalieri, Margherita; Thomson, Russell; Niessen, Wiro J; Chibnik, Lori B; Gislason, Gauti K; Hofman, Albert; Pikula, Aleksandra; Amouyel, Philippe; Freeman, Kevin B; Phan, Thanh G; Oostra, Ben A; Stein, Jason L; Medland, Sarah E; Vasquez, Alejandro Arias; Hibar, Derrek P; Wright, Margaret J; Franke, Barbara; Martin, Nicholas G; Thompson, Paul M; Nalls, Michael A; Uitterlinden, Andre G; Au, Rhoda; Elbaz, Alexis; Beare, Richard J; van Swieten, John C; Lopez, Oscar L; Harris, Tamara B; Chouraki, Vincent; Breteler, Monique M B; De Jager, Philip L; Becker, James T; Vernooij, Meike W; Knopman, David; Fazekas, Franz; Wolf, Philip A; van der Lugt, Aad; Gudnason, Vilmundur; Longstreth, W T; Brown, Matthew A; Bennett, David A; van Duijn, Cornelia M; Mosley, Thomas H; Schmidt, Reinhold; Tzourio, Christophe; Launer, Lenore J; Ikram, M Arfan; Seshadri, Sudha

    2012-04-15

    Aging is associated with reductions in hippocampal volume that are accelerated by Alzheimer's disease and vascular risk factors. Our genome-wide association study (GWAS) of dementia-free persons (n = 9,232) identified 46 SNPs at four loci with P values of <4.0 × 10(-7). In two additional samples (n = 2,318), associations were replicated at 12q14 within MSRB3-WIF1 (discovery and replication; rs17178006; P = 5.3 × 10(-11)) and at 12q24 near HRK-FBXW8 (rs7294919; P = 2.9 × 10(-11)). Remaining associations included one SNP at 2q24 within DPP4 (rs6741949; P = 2.9 × 10(-7)) and nine SNPs at 9p33 within ASTN2 (rs7852872; P = 1.0 × 10(-7)); along with the chromosome 12 associations, these loci were also associated with hippocampal volume (P < 0.05) in a third younger, more heterogeneous sample (n = 7,794). The SNP in ASTN2 also showed suggestive association with decline in cognition in a largely independent sample (n = 1,563). These associations implicate genes related to apoptosis (HRK), development (WIF1), oxidative stress (MSR3B), ubiquitination (FBXW8) and neuronal migration (ASTN2), as well as enzymes targeted by new diabetes medications (DPP4), indicating new genetic influences on hippocampal size and possibly the risk of cognitive decline and dementia.

  18. De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome.

    PubMed

    Ramineni, Anand; Coman, David

    2016-01-01

    Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis-ptosis-epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome. The authors report a young female patient presenting with features consistent with all 3 of these syndromes. This has occurred in the context of a de novo 3q22.3q24 microdeletion including FOXL2 , ZIC1 , and ZIC4 . This patient provides further evidence for the role of ZIC1 and ZIC4 in Dandy-Walker malformation and is the third reported case of Dandy-Walker malformation to have associated corpus callosum thinning. This patient is also only the seventh to be reported with the rare Wisconsin syndrome phenotype.

  19. Fano q-reversal in topological insulator Bi 2Se 3

    DOE PAGES

    S. V. Dordevic; Petrovic, C.; Foster, G. M.; ...

    2016-03-22

    Here, we studied the magneto-optical response of a canonical topological insulator Bi 2Se 3 with the goal of addressing a controversial issue of electron–phonon coupling. Magnetic-field induced modifications of reflectance are very pronounced in the infrared part of the spectrum, indicating strong electron–phonon coupling. This coupling causes an asymmetric line-shape of the 60 cm –1 phonon mode, and is analyzed within the Fano formalism. The analysis reveals that the Fano asymmetry parameter ( q) changes sign when the cyclotron resonance is degenerate with the phonon mode. To the best of our knowledge this is the first example of magnetic fieldmore » driven q-reversal.« less

  20. Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.

    PubMed

    Scott, William K; Hauser, Elizabeth R; Schmechel, Donald E; Welsh-Bohmer, Kathleen A; Small, Gary W; Roses, Allen D; Saunders, Ann M; Gilbert, John R; Vance, Jeffery M; Haines, Jonathan L; Pericak-Vance, Margaret A

    2003-11-01

    Alzheimer disease (AD) is a complex disorder characterized by a wide range, within and between families, of ages at onset of symptoms. Consideration of age at onset as a covariate in genetic-linkage studies may reduce genetic heterogeneity and increase statistical power. Ordered-subsets analysis includes continuous covariates in linkage analysis by rank ordering families by a covariate and summing LOD scores to find a subset giving a significantly increased LOD score relative to the overall sample. We have analyzed data from 336 markers in 437 multiplex (>/=2 sampled individuals with AD) families included in a recent genomic screen for AD loci. To identify genetic heterogeneity by age at onset, families were ordered by increasing and decreasing mean and minimum ages at onset. Chromosomewide significance of increases in the LOD score in subsets relative to the overall sample was assessed by permutation. A statistically significant increase in the nonparametric multipoint LOD score was observed on chromosome 2q34, with a peak LOD score of 3.2 at D2S2944 (P=.008) in 31 families with a minimum age at onset between 50 and 60 years. The LOD score in the chromosome 9p region previously linked to AD increased to 4.6 at D9S741 (P=.01) in 334 families with minimum age at onset between 60 and 75 years. LOD scores were also significantly increased on chromosome 15q22: a peak LOD score of 2.8 (P=.0004) was detected at D15S1507 (60 cM) in 38 families with minimum age at onset >/=79 years, and a peak LOD score of 3.1 (P=.0006) was obtained at D15S153 (62 cM) in 43 families with mean age at onset >80 years. Thirty-one families were contained in both 15q22 subsets, indicating that these results are likely detecting the same locus. There is little overlap in these subsets, underscoring the utility of age at onset as a marker of genetic heterogeneity. These results indicate that linkage to chromosome 9p is strongest in late-onset AD and that regions on chromosome 2q34 and 15q22 are

  1. 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.

    PubMed

    Alyaqoub, Fadel; Pyatt, Robert E; Bailes, Andrea; Brock, Amanda; Deeg, Carol; McKinney, Aimee; Astbury, Caroline; Reshmi, Shalini; Shane, Kate P; Thrush, Devon Lamb; Sommer, Annemarie; Gastier-Foster, Julie M

    2012-11-01

    The 12q14 microdeletion syndrome is a rare condition that has previously been characterized by pre- and postnatal growth restriction, proportionate short stature, failure to thrive, developmental delay, and osteopoikilosis. Previously reported microdeletions within this region have ranged in size from 1.83 to 10.12 Mb with a proposed 2.61 Mb smallest region of overlap containing the LEMD3, HMGA2, and GRIP1 genes. Here, we report on the identification of a 12q14 microdeletion in a female child presenting with proportionate short stature, failure to thrive, and speech delay. The genomic loss (minimum size 4.17 Mb, maximum size 4.21 Mb) contained 25 RefSeq genes including IRAK3, GRIP1, and the 3' portion of the HMGA2 gene. This is the first partial deletion of HMGA2 associated with the 12q14 microdeletion syndrome. This case further clarifies the association of LEMD3 deletions with the 12q14 microdeletion syndrome and provides additional support for the role of the HMGA2 gene in human growth. Copyright © 2012 Wiley Periodicals, Inc.

  2. Monosomy 6q1: Syndrome delineation

    SciTech Connect

    Romie, S.S.; Hartsfield, J.K. Jr.; Sutcliffe, M.J.

    1996-03-15

    We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1 including mental deficiency, growth retardation, short neck, and minor facila anomalies. 18 refs., 5 figs., 3 tabs.

  3. Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.

    PubMed

    Rodríguez, Laura; Martínez Guardia, Nieves; Herens, Christian; Jamar, Mauricette; Verloes, Alain; López, Fermina; Santos Muñoz, José; Martínez-Frías, María Luisa

    2003-10-01

    The high resolution G-bands (850 bands) karyotype have made it possible to identify small chromosome anomalies (5 megabases) which are now microscopically visible. New techniques have been improved, such as the Fluorescent in situ hybridization (FISH) with subtelomeric probes, which can be employed to detect cryptic chromosome alterations not visible microscopically. We present three cases which had been remitted for a high resolution karyotype. The high resolution G-band karyotype and the FISH techniques led us to conclude that the three cases were carriers of a similar subtle chromosomal alteration. Case I is a new born female with developmental and psychomotor delay, hypotonia, and long limbs with arachnodactily. A high resolution G-band karyotype showed an abnormal chromosome 22. FISH techniques confirmed a der(22)t(12;22)(q24.31;q13.3). Case II is a 12-year-old girl, with growth retardation, long shaped face with thick eyebrows, smooth philtrum, and thin upper lip with severe mental retardation (still no language), with a phenotype very similar to that of his sister: long shaped face, thick eyebrows, smooth philtrum, and thin upper lip. A high resolution G-band karyotype also showed in Case II and III an abnormal chromosome 22, studied by FISH techniques which confirmed a der(22)t(12;22)(q24.3;q13.3) in both cases. Copyright 2003 Wiley-Liss, Inc.

  4. Head and neck manifestations of 22q11.2 deletion syndromes.

    PubMed

    Marom, Tal; Roth, Yehudah; Goldfarb, Abraham; Cinamon, Udi

    2012-02-01

    The allelic loss of 22q11.2 results in various developmental failures of pharyngeal pouch derivatives ("22q11.2 deletion syndromes", 22q.11DS), consequently affecting the anatomy and physiology of head and neck (H&N) organs. The objective of this paper was to describe those manifestations. Two 22q11.2DS patients with H&N manifestations were studied along with a comprehensive review of the English literature, from 1975 to 2010 regarding the associated H&N malformations among 22q11.2DS. A 24-year-old mentally disabled 22q11.2DS male presented with right hemithyroid enlargement, causing significant compressive signs. Sonography revealed a homogeneous 8 × 3 cm lesion, replacing almost the entire thyroid lobe. Fine needle aspiration revealed colloid material and abundant eosinophils. The hemithyroidectomy specimen confirmed follicular adenoma. A 19-year-old mentally disabled 22q11.2DS female underwent CT-angiography due to an upper GI bleeding. The study revealed a vascular malformation in the infratemporal fossa. Reviewing the reported data regarding 22q11.2DS-associated H&N malformations revealed abnormalities and malfunctions of the thyroid gland, parathyroid glands, thymus agenesis, cleft palate, carotid artery aberrations, malformations of the larynx and trachea and esophageal dysmotility. 22q11.DS patients may present with H&N anatomical abnormalities, along with hormonal dysfunctions, which require special awareness once treatment is offered, especially when concerning anesthetic and surgical aspects. In addition, hSNF5/INI1, a tumor suppressor gene, detected at location 22q11.2 was described to be "knocked out" in some patients. This may be associated with H&N tumors reported in these patients.

  5. A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).

    PubMed

    Armour, Christine M; McGowan-Jordan, Jean; Lawrence, Sarah E; Bouchard, Amélie; Basik, Mark; Allanson, Judith E

    2008-01-01

    We report on a girl with partial deletion of Xp and partial duplication of 22q. Family studies demonstrate that both the patient's mother and her nonidentical twin sister carry the corresponding balanced translocation; 46,X,t(X;22)(p11.4;q11.2). This girl has developmental delay, microcephaly, mild dysmorphisms and hearing loss but otherwise shows few of the features described in individuals with duplications of the long arm of chromosome 22. She does manifest characteristics, such as short stature and biochemical evidence of ovarian failure, which are seen in partial or complete Xp deletions and Turner's syndrome.

  6. Luminescent properties and structure of new CAPh-based lanthanide complexes [LnL3Q], containing additional bis-heterocyclic aromatic ligand-antenna 2-(1,3,4-oxadiazole-2-yl) pyridine

    NASA Astrophysics Data System (ADS)

    Yakovlev, Oleksii O.; Kariaka, Nataliia S.; Trush, Victor A.; Smola, Sergii S.; Siczek, Milosz; Amirkhanov, Vladimir M.

    2018-01-01

    The new lanthanide coordination compounds of general formula [LnL3Q], where Ln = Eu, Gd, Tb; L = dimethyl-N-trichloroacetylamidophosphate and Q = 2-(1,3,4-oxadiazole-2-yl)pyridine, have been synthesized and isolated in crystalline state with the purpose of finding new interesting optical materials. X-ray data reveal that complexes have molecular structure with numerous Van-der-Vaals contacts between molecules. All the ligands are coordinated in bidentate chelate manner, coordination polyhedron was interpreted as distored square antiprism (CN 8). The obtained complexes were investigated by means of IR, absorption and luminescence spectroscopy as well and thermal gravimetric analysis. It was found that complex [TbL3Q] is resistant to temperature of 200 °C. The Eu3+ and Tb3+ complexes exhibit bright metal-centered emission with decay time 1.65 and 1.74 ms respectively. Intrinsic quantum yield for [EuL3Q] equals 85% that is one of the highest values, known to date for CAPh based europium complexes.

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

    Treesearch

    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...

  8. Refined physical map of the human PAX2/HOX11/NFKB2 cancer gene region at 10q24 and relocalization of the HPV6AI1 viral integration site to 14q13.3-q21.1

    PubMed Central

    Gough, Sheryl M; McDonald, Margaret; Chen, Xiao-Ning; Korenberg, Julie R; Neri, Antonino; Kahn, Tomas; Eccles, Michael R; Morris, Christine M

    2003-01-01

    Background Chromosome band 10q24 is a gene-rich domain and host to a number of cancer, developmental, and neurological genes. Recurring translocations, deletions and mutations involving this chromosome band have been observed in different human cancers and other disease conditions, but the precise identification of breakpoint sites, and detailed characterization of the genetic basis and mechanisms which underlie many of these rearrangements has yet to be resolved. Towards this end it is vital to establish a definitive genetic map of this region, which to date has shown considerable volatility through time in published works of scientific journals, within different builds of the same international genomic database, and across the differently constructed databases. Results Using a combination of chromosome and interphase fluorescent in situ hybridization (FISH), BAC end-sequencing and genomic database analysis we present a physical map showing that the order and chromosomal orientation of selected genes within 10q24 is CEN-CYP2C9-PAX2-HOX11-NFKB2-TEL. Our analysis has resolved the orientation of an otherwise dynamically evolving assembly of larger contigs upstream of this region, and in so doing verifies the order and orientation of a further 9 cancer-related genes and GOT1. This study further shows that the previously reported human papillomavirus type 6a DNA integration site HPV6AI1 does not map to 10q24, but that it maps at the interface of chromosome bands 14q13.3-q21.1. Conclusions This revised map will allow more precise localization of chromosome rearrangements involving chromosome band 10q24, and will serve as a useful baseline to better understand the molecular aetiology of chromosomal instability in this region. In particular, the relocation of HPV6AI1 is important to report because this HPV6a integration site, originally isolated from a tonsillar carcinoma, was shown to be rearranged in other HPV6a-related malignancies, including 2 of 25 genital condylomas

  9. The intrinsic mechanical nonlinearity 3Q0(ω) of linear homopolymer melts

    NASA Astrophysics Data System (ADS)

    Cziep, Miriam Angela; Abbasi, Mahdi; Wilhelm, Manfred

    2017-05-01

    Medium amplitude oscillatory shear (MAOS) in combination with Fourier Transformation of the mechanical stress signal (FT rheology) was utilized to investigate the influence of molecular weight, molecular weight distribution and the monomer on the intrinsic nonlinearity 3Q0(ω). Nonlinear master curves of 3Q0(ω) have been created, applying the time-temperature superposition (TTS) principle. These master curves showed a characteristic shape with an increasing slope at small frequencies, a maximum 3Q0,max and a decreasing slope at high frequencies. 3Q0(De) master curves of monodisperse polymers were evaluated and quantified with the help of a semi-empiric equation, derived from predictions from the pom-pom and molecular stress function (MSF) models. This resulted in a monomer independent description of the nonlinear mechanical behavior of linear, monodisperse homopolymer melts, where 3Q0(ω,Z) is only a function of the frequency ω and the number of entanglements Z. For polydisperse samples, 3Q0(ω) showed a high sensitivity within the experimental window towards an increasing PDI. At small frequencies, the slope of 3Q0(ω) decreases until approximately zero as a plateau value is reached, starting at a PDI around 2 and higher.

  10. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

    PubMed Central

    Ashraf, Shazia; Gee, Heon Yung; Woerner, Stephanie; Xie, Letian X.; Vega-Warner, Virginia; Lovric, Svjetlana; Fang, Humphrey; Song, Xuewen; Cattran, Daniel C.; Avila-Casado, Carmen; Paterson, Andrew D.; Nitschké, Patrick; Bole-Feysot, Christine; Cochat, Pierre; Esteve-Rudd, Julian; Haberberger, Birgit; Allen, Susan J.; Zhou, Weibin; Airik, Rannar; Otto, Edgar A.; Barua, Moumita; Al-Hamed, Mohamed H.; Kari, Jameela A.; Evans, Jonathan; Bierzynska, Agnieszka; Saleem, Moin A.; Böckenhauer, Detlef; Kleta, Robert; El Desoky, Sherif; Hacihamdioglu, Duygu O.; Gok, Faysal; Washburn, Joseph; Wiggins, Roger C.; Choi, Murim; Lifton, Richard P.; Levy, Shawn; Han, Zhe; Salviati, Leonardo; Prokisch, Holger; Williams, David S.; Pollak, Martin; Clarke, Catherine F.; Pei, York; Antignac, Corinne; Hildebrandt, Friedhelm

    2013-01-01

    Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity mapping and whole human exome resequencing, we identified mutations in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. ADCK4 was highly similar to ADCK3, which has been shown to participate in coenzyme Q10 (CoQ10) biosynthesis. Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with SRNS and transformed lymphoblasts. Knockdown of adck4 in zebrafish and Drosophila recapitulated nephrotic syndrome-associated phenotypes. Furthermore, ADCK4 was expressed in glomerular podocytes and partially localized to podocyte mitochondria and foot processes in rat kidneys and cultured human podocytes. In human podocytes, ADCK4 interacted with members of the CoQ10 biosynthesis pathway, including COQ6, which has been linked with SRNS and COQ7. Knockdown of ADCK4 in podocytes resulted in decreased migration, which was reversed by CoQ10 addition. Interestingly, a patient with SRNS with a homozygous ADCK4 frameshift mutation had partial remission following CoQ10 treatment. These data indicate that individuals with SRNS with mutations in ADCK4 or other genes that participate in CoQ10 biosynthesis may be treatable with CoQ10. PMID:24270420

  11. Coenzyme Q biosynthesis in health and disease.

    PubMed

    Acosta, Manuel Jesús; Vazquez Fonseca, Luis; Desbats, Maria Andrea; Cerqua, Cristina; Zordan, Roberta; Trevisson, Eva; Salviati, Leonardo

    2016-08-01

    Coenzyme Q (CoQ, or ubiquinone) is a remarkable lipid that plays an essential role in mitochondria as an electron shuttle between complexes I and II of the respiratory chain, and complex III. It is also a cofactor of other dehydrogenases, a modulator of the permeability transition pore and an essential antioxidant. CoQ is synthesized in mitochondria by a set of at least 12 proteins that form a multiprotein complex. The exact composition of this complex is still unclear. Most of the genes involved in CoQ biosynthesis (COQ genes) have been studied in yeast and have mammalian orthologues. Some of them encode enzymes involved in the modification of the quinone ring of CoQ, but for others the precise function is unknown. Two genes appear to have a regulatory role: COQ8 (and its human counterparts ADCK3 and ADCK4) encodes a putative kinase, while PTC7 encodes a phosphatase required for the activation of Coq7. Mutations in human COQ genes cause primary CoQ(10) deficiency, a clinically heterogeneous mitochondrial disorder with onset from birth to the seventh decade, and with clinical manifestation ranging from fatal multisystem disorders, to isolated encephalopathy or nephropathy. The pathogenesis of CoQ(10) deficiency involves deficient ATP production and excessive ROS formation, but possibly other aspects of CoQ(10) function are implicated. CoQ(10) deficiency is unique among mitochondrial disorders since an effective treatment is available. Many patients respond to oral CoQ(10) supplementation. Nevertheless, treatment is still problematic because of the low bioavailability of the compound, and novel pharmacological approaches are currently being investigated. This article is part of a Special Issue entitled 'EBEC 2016: 19th European Bioenergetics Conference, Riva del Garda, Italy, July 2-6, 2016', edited by Prof. Paolo Bernardi. Copyright © 2016. Published by Elsevier B.V.

  12. [Recombinant chromosome 4 with partial 4p deletion and 4q duplication inherited from paternal pericentric inversion].

    PubMed

    Mun, Se Jin; Cho, Eun Hae; Chey, Myoung-Jae; Shim, Gyu-Hong; Shin, Bo-Moon; Lee, Rae-Kyung; Ko, Ji-Kyung; Yoo, Soo Jin

    2010-02-01

    Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here, we report the molecular cytogenetic findings and clinical manifestations observed in an infant with 46,XX,rec(4)dup(4q)inv(4)(p16q31.3)pat. The infant was delivered by Cesarean section at the 33rd week of gestation because pleural effusion and polyhydramnios were detected on ultrasonography. At birth, the infant showed no malformation or dysfunction, except for a preauricular skin tag. Array comparative genomic hybridization analysis of neonatal peripheral blood samples showed a gain of 38 Mb on 4q31.3-qter and a loss of 3 Mb on 4p16.3, and these results were consistent with WHS. At the last follow-up at 8 months of age (corrected age, 6 months), the infant had not achieved complete head control.

  13. The gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2), maps to chromosome 5q13. 3

    SciTech Connect

    Richard, I.; Devaud, C.; Cherif, D.

    1993-10-01

    YAC clones for the creatine kinase, mitochrondial 2 (sarcomeric; CKMT2), gene were isolated. One of these YACs was localized on chromosome 5q13.3 by fluorescence in situ hybridization. A polymorphic dinucleotide repeat (heterozygosity 0.77) was identified within the seventh intron of the CKMT2 gene. Genotyping of CEPH families allowed positioning of CKMT2 on the multipoint map of chromosome 5 between D5S424 and D5S428, distal to spinal muscular atrophy (SMA) (5q12-q14). 8 refs., 1 fig., 2 tabs.

  14. Evaluation of two new STR loci 9q2h2 and wg3f12 in a Japanese population.

    PubMed

    Mizutani, M; Huang, X L; Tamaki, K; Yoshimoto, T; Uchihi, R; Yamamoto, T; Katsumata, Y; Armour, J A

    1999-09-01

    Two short tandem repeat (STR) loci (9q2h2 and wg3f12) have been evaluated in a Japanese population. Ten and seven different alleles were observed in 9q2h2 and wg3f12 respectively. 9q2h2 displayed simple polymorphism in tetrameric repeat structure; by contrast, wg3f12 contained variable numbers of tetrameric repeats and a 30-bp deletion/insertion polymorphism. No "interalleles" were found. The expected heterozygosities of 9q2h2 and wg3fl2 were 0.749 and 0.574, respectively. No deviation from Hardy-Weinberg equilibrium was found.

  15. "Eyeball" POP-Q examination: shortcut or valid assessment tool?

    PubMed

    Karp, Deborah R; Peterson, Thais V; Jean-Michel, Marjorie; Lefevre, Roger; Davila, G Willy; Aguilar, Vivian C

    2010-08-01

    The objective of this study was to compare the results of the Pelvic Organ Prolapse Quantification (POP-Q) examination by visual estimation to measurement. Women with pelvic organ prolapse underwent both "eyeball"/estimated and measured POP-Q examinations by two trained examiners in a randomized order. POP-Q points and stage were analyzed using the paired t test, chi-square, Pearson's correlation, and kappa statistics. Fifty subjects had a mean age of 60, mean BMI 27.8, and median parity of 2. The POP-Q stages by the measured technique were 18% (9/50) stage 1, 38% (19/50) stage 2, 44% (22/50) stage 3, and 0% (0/50) stage 4. The POP-Q stages based on estimation and measurement were highly associated (p < 0.05). Individual points did not differ significantly between the techniques and did not differ significantly between examiners (all p > 0.05). Among examiners who routinely perform POP-Q examinations, there is no significant difference between "eyeball"/estimated and measured POP-Q values and stage.

  16. Tensor products of U{sub q}{sup Prime }sl-caret(2)-modules and the big q{sup 2}-Jacobi function transform

    SciTech Connect

    Gade, R. M.

    2013-01-15

    Four tensor products of evaluation modules of the quantum affine algebra U{sub q}{sup Prime }sl-caret(2) obtained from the negative and positive series, the complementary and the strange series representations are investigated. Linear operators R(z) satisfying the intertwining property on finite linear combinations of the canonical basis elements of the tensor products are described in terms of two sets of infinite sums {l_brace}{tau}{sup (r,t)}{r_brace}{sub r,t Element-Of Z{sub {>=}{sub 0}}} and {l_brace}{tau}{sup (r,t)}{r_brace}{sub r,t Element-Of Z{sub {>=}{sub 0}}} involving big q{sup 2}-Jacobi functions or related nonterminating basic hypergeometric series. Inhomogeneous recurrence relations can be derived for both sets. Evaluations of the simplestmore » sums provide the corresponding initial conditions. For the first set of sums the relations entail a big q{sup 2}-Jacobi function transform pair. An integral decomposition is obtained for the sum {tau}{sup (r,t)}. A partial description of the relation between the decompositions of the tensor products with respect to U{sub q}sl(2) or with respect to its complement in U{sub q}{sup Prime }sl-caret(2) can be formulated in terms of Askey-Wilson function transforms. For a particular combination of two tensor products, the occurrence of proper U{sub q}{sup Prime }sl-caret(2)-submodules is discussed.« less

  17. Interstitial duplication 8q22-q24: Report of a case proven by FISH with mapped cosmid probes

    SciTech Connect

    Wakui, Keiko; Ohashi, Hirofumi; Yamagishi, Akira

    We report on a 6-month-old malformed female infant with a de novo interstitial duplication of an 8q22-q24 segment. She had an excess dark-band on the 8q distal region by GTG-banded chromosome analysis, which was likely to be 8q23. We performed FISH analysis using cosmid probes mapped to 8q23 and proved that the patient had an 8q duplication including the 8q23 region. 20 refs., 2 figs., 1 tab.

  18. De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome

    PubMed Central

    Ramineni, Anand

    2016-01-01

    Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis–ptosis–epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome. The authors report a young female patient presenting with features consistent with all 3 of these syndromes. This has occurred in the context of a de novo 3q22.3q24 microdeletion including FOXL2, ZIC1, and ZIC4. This patient provides further evidence for the role of ZIC1 and ZIC4 in Dandy-Walker malformation and is the third reported case of Dandy-Walker malformation to have associated corpus callosum thinning. This patient is also only the seventh to be reported with the rare Wisconsin syndrome phenotype. PMID:28503614

  19. Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations.

    PubMed

    Tyshchenko, Nataliya A; Riegel, Mariluce; Evseenkova, Elena G; Zerova, Tatjana E; Gorovenko, Nataliya G; Schinzel, Albert

    2007-01-01

    We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of duplication (12p) and deletion (22)(q11.2) syndromes. The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft uvula, a complex conotruncal heart defect, a polycystic right kidney, and an umbilical hernia. She died at the age of 6 months of cardio-respiratory failure. Cytogenetic examination demonstrated a derivative chromosome 12 replacing one of the two chromosomes 22. The paternal karyotype was normal 46,XY while the mother's karyotype was 46,XX,rcp(12;22)(q13.2;q11.2). According to the published data, all patients with deletion 22q11.2 combined with other unbalanced chromosomal aberration have a more severe clinical expression than those with interstitial deletions.

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

    PubMed

    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.

  1. Kepler Data Release 25 Notes (Q0-Q17)

    NASA Technical Reports Server (NTRS)

    Mullally, Susan E.; Caldwell, Douglas A.; Barclay, Thomas Stewart; Barentsen, Geert; Clarke, Bruce Donald; Bryson, Stephen T.; Burke, Christopher James; Campbell, Jennifer Roseanna; Catanzarite, Joseph H.; Christiansen, Jessie; hide

    2016-01-01

    These Data Release Notes provide information specific to the current reprocessing and re-export of the Q0-Q17 data. The data products included in this data release include target pixel files, light curve files, FFIs,CBVs, ARP, Background, and Collateral files. This release marks the final processing of the Kepler Mission Data. See Tables 1 and 2 for a list of the reprocessed Kepler cadence data. See Table 3 for a list of the available FFIs. The Long Cadence Data, Short Cadence Data, and FFI data are documented in these data release notes. The ancillary files (i.e., cotrending basis vectors, artifact removal pixels, background, and collateral data) are described in the Archive Manual (Thompson et al., 2016).

  2. Childhood cognitive development in 22q11.2 deletion syndrome: case-control study.

    PubMed

    Chawner, Samuel J R A; Doherty, Joanne L; Moss, Hayley; Niarchou, Maria; Walters, James T R; Owen, Michael J; van den Bree, Marianne B M

    2017-10-01

    Background 22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of childhood as well as adult psychiatric disorders, in particular schizophrenia. Childhood cognitive deterioration in 22q11.2DS has previously been reported, but only in studies lacking a control sample. Aims To compare cognitive trajectories in children with 22q11.2DS and unaffected control siblings. Method A longitudinal study of neurocognitive functioning (IQ, executive function, processing speed and attention) was conducted in children with 22q11.2DS ( n = 75, mean age time 1 ( T 1 ) 9.9, time 2 ( T 2 ) 12.5) and control siblings ( n = 33, mean age T 1 10.6, T 2 13.4). Results Children with 22q11.2DS exhibited deficits in all cognitive domains. However, mean scores did not indicate deterioration. When individual trajectories were examined, some participants showed significant decline over time, but the prevalence was similar for 22q11.2DS and control siblings. Findings are more likely to reflect normal developmental fluctuation than a 22q11.2DS-specific abnormality. Conclusions Childhood cognitive deterioration is not associated with 22q11.2DS. Contrary to previous suggestions, we believe it is premature to recommend repeated monitoring of cognitive function for identifying individual children with 22q11.2DS at high risk of developing schizophrenia. © The Royal College of Psychiatrists 2017.

  3. Compact passively Q-switched single-frequency Er3+/Yb3+ codoped phosphate fiber laser

    NASA Astrophysics Data System (ADS)

    Zhang, Yuanfei; Wang, Simin; Lin, Wei; Mo, Shupei; Zhao, Qilai; Yang, Changsheng; Feng, Zhouming; Deng, Huaqiu; Peng, Mingying; Yang, Zhongmin; Xu, Shanhui

    2017-05-01

    We present a compact passively Q-switched single-frequency fiber laser based on a 12-mm-long laboratory-built highly Er3+/Yb3+ codoped phosphate fiber (EYDPF) and a semiconductor saturable absorber mirror (SESAM). An effective cavity length of less than 20 mm ensures the stable single-frequency operation of the Q-switched fiber laser. By employing a SESAM for Q-switching, a single-pulse energy of more than 34.4 nJ is realized with the narrowest pulse duration of 95 ns, and the repetition rate of the Q-switched fiber laser reaches over 600 kHz. In addition, the optical signal-to-noise ratio of the output laser is as high as 68.0 dB.

  4. Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.

    PubMed

    Sondheimer, Neal; Hewson, Stacy; Cameron, Jessie M; Somers, Gino R; Broadbent, Jane Dunning; Ziosi, Marcello; Quinzii, Catarina Maria; Naini, Ali B

    2017-09-01

    Coenzyme Q 10 (CoQ 10 ) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ 10 synthesis are usually associated with the impaired function of CoQ 10 -dependent complexes I, II and III. The recessively transmitted CoQ 10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ 10 biosynthesis. To date, mutations in COQ1 ( PDSS1 and PDSS2 ), COQ2 , COQ4 , COQ6 , COQ7 , COQ8A / ADCK3 , COQ8B/ADCK4 , and COQ9 genes have been identified in patients with primary form of CoQ 10 deficiency. Here we report novel mutations in the COQ4 gene, which were identified in an infant with profound mitochondrial disease presenting with perinatal seizures, hypertrophic cardiomyopathy and severe muscle CoQ 10 deficiency.

  5. Q-Vax Q fever vaccine failures, Victoria, Australia 1994-2013.

    PubMed

    Bond, Katherine A; Franklin, Lucinda J; Sutton, Brett; Firestone, Simon M

    2017-12-18

    Q-Vax®, a whole cell formalin inactivated vaccine, is currently the only licensed Q fever vaccine for humans world-wide. Efficacy is high, although vaccine failures have been described for those vaccinated within the incubation of a naturally acquired infection. In Australia, it is widely used to prevent occupational acquisition of Q fever and is the mainstay for outbreak control. A retrospective review of all notified cases of acute Q fever to the Victorian department of health, 1993-2013, revealed 34 of 659 cases were previously vaccinated and 10 cases were positive on pre-vaccination screening, precluding vaccination. Twenty-one cases described high-risk exposures for C. burnetii prior to and within 15 days post vaccination and are likely to have been vaccinated within the incubation period of a natural infection. Thirteen cases described symptom onset more than 15 days post vaccination and thus may represent the first described series of Q-Vax vaccine failures following appropriate vaccination. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Sperm FISH analysis of a 44,X,der(Y),t(Y;15)(q12;q10)pat,rob(13;14)(q10;q10)mat complex chromosome rearrangement.

    PubMed

    Ferfouri, F; Boitrelle, F; Clement, P; Molina Gomes, D; Selva, J; Vialard, F

    2014-06-01

    Complex chromosome rearrangements (CCR) with two independent chromosome rearrangements are rare. Although CCRs lead to high unbalanced gamete rates, data on meiotic segregation in this context are scarce. A male patient was referred to our clinic as part of a family screening programme prompted by the observation of a 44,X,der(Y),t(Y;15)(q12;q10)pat,rob(13;14)(q10;q10)mat karyotype in his brother. Karyotyping identified the same CCR. Sperm FISH (with locus-specific probes for the segments involved in the translocations and nine chromosomes not involved in both rearrangements) was used to investigate the rearrangements meiotic segregation products and establish whether or not an inter-chromosomal effect was present. Sperm nuclear DNA fragmentation was also evaluated. For rob(13;14) and der(Y), the proportions of unbalanced products were, respectively, 26.4% and 60.6%. Overall, 70.3% of the meiotic segregation products were unbalanced. No evidence of an inter-chromosomal effect was found, and the sperm nuclear DNA fragmentation rate was similar to our laboratory's normal cut-off value. In view of previously published sperm FISH analyses of Robertsonian translocations (and even though the mechanism is still unknown), we hypothesise that cosegregation of der(Y) and rob(13;14) could modify rob(13;14) meiotic segregation. © 2013 Blackwell Verlag GmbH.

  7. Anterior pituitary failure (panhypopituitarism) with balanced chromosome translocation 46,XY,t(11;22)(q24;q13).

    PubMed

    Yang, C Y; Chou, C W; Chen, S Y; Cheng, H M

    2001-04-01

    Hypopituitarism is the clinical syndrome that results from failure of the anterior pituitary gland to produce its hormones. Hypopituitarism can result from: (1) intrinsic or primary pituitary disease; (2) intrinsic hypothalamic or secondary pituitary disease; or (3) extrinsic extrasellar or parasellar disease. The etiologies of primary hypopituitarism are miscellaneous. The dominant clinical picture of hypopituitarism in the adult is that of hypogonadism. Reports have associated hypopituitarism with anti-pituitary-antibodies, hereditary syndrome and chromosome defects, but hypopituitarism has rarely been associated with balanced chromosome translocation (11;22)(q24;q13). Here, we describe a case of anterior pituitary failure with balanced chromosome translocation. A 19-year-old Chinese teenager presented with failure of pubertal development and sexual infantilism. On examination, the patient had the classic appearance of hypogonadism. Endocrine studies and three combined pituitary function tests revealed panhypopituitarism. A chromosomal study revealed 46,XY,t(11;22)(q24;q13), a balanced translocation between 11q24 and 22q13. Chest films showed delayed fusion of bilateral humeral head epiphyses and bilateral acromions. Scrotal sonography revealed testes were small bilaterally. Magnetic resonance imaging (MRI) of the sella revealed pituitary dwarfism. The patient received 19 months replacement therapy, including steroids (prednisolone 5 mg each day), L-thyroxine (Eltroxin 100 ug each day), and testosterone enanthate 250 mg every two weeks. His height increased 4 cm with secondary sexual characteristics developed, and muscle power increased.

  8. Wave functions of the Q .Q interaction in terms of unitary 9-j coefficients

    NASA Astrophysics Data System (ADS)

    Zamick, Larry; Harper, Matthew

    2015-03-01

    We obtain wave functions for two protons and two neutrons in the g9 /2 shell expressed as column vectors with amplitudes D (Jp,Jn) . When we use a quadrupole-quadrupole interaction (Q .Q ) we get, in many cases, a very strong overlap with wave functions given by a single set of unitary 9-j coefficients—U 9 j =<(jj ) 2 j(jjJB|(jj ) Jp(jj ) Jn) I> . Here JB=9 for even I T =0 states. For both even and odd T =1 states we take JB equal to 8 whilst for odd I ,T =0 we take JB to be 7. We compare the Q .Q results with those of a more realistic interaction.

  9. 15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.

    PubMed

    Yasui, Dag H; Scoles, Haley A; Horike, Shin-Ichi; Meguro-Horike, Makiko; Dunaway, Keith W; Schroeder, Diane I; Lasalle, Janine M

    2011-11-15

    Copy number variations (CNVs) within human 15q11.2-13.3 show reduced penetrance and variable expressivity in a range of neurologic disorders. Therefore, characterizing 15q11.2-13.3 chromatin structure is important for understanding the regulation of this locus during normal neuronal development. Deletion of the Prader-Willi imprinting center (PWS-IC) within 15q11.2-13.3 disrupts long-range imprinted gene expression resulting in Prader-Willi syndrome. Previous results establish that MeCP2 binds to the PWS-IC and is required for optimal expression of distal GABRB3 and UBE3A. To examine the hypothesis that MeCP2 facilitates 15q11.2-13.3 transcription by linking the PWS-IC with distant elements, chromosome capture conformation on chip (4C) analysis was performed in human SH-SY5Y neuroblastoma cells. SH-SY5Y neurons had 2.84-fold fewer 15q11.2-13.3 PWS-IC chromatin interactions than undifferentiated SH-SY5Y neuroblasts, revealing developmental chromatin de-condensation of the locus. Out of 68 PWS-IC interactions with15q11.2-13.3 identified by 4C analysis and 62 15q11.2-13.3 MeCP2-binding sites identified by previous ChIP-chip studies, only five sites showed overlap. Remarkably, two of these overlapping PWS-IC- and MeCP2-bound sites mapped to sites flanking CHRNA7 (cholinergic receptor nicotinic alpha 7) encoding the cholinergic receptor, nicotinic, alpha 7. PWS-IC interaction with CHRNA7 in neurons was independently confirmed by fluorescent in situ hybridization analysis. Subsequent quantitative transcriptional analyses of frontal cortex from Rett syndrome and autism patients revealed significantly reduced CHRNA7 expression compared with controls. Together, these results suggest that transcription of CHRNA7 is modulated by chromatin interactions with the PWS-IC. Thus, loss of long-range chromatin interactions within 15q11.2-13.3 may contribute to multiple human neurodevelopmental disorders.

  10. Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

    PubMed

    Ziosi, Marcello; Di Meo, Ivano; Kleiner, Giulio; Gao, Xing-Huang; Barca, Emanuele; Sanchez-Quintero, Maria J; Tadesse, Saba; Jiang, Hongfeng; Qiao, Changhong; Rodenburg, Richard J; Scalais, Emmanuel; Schuelke, Markus; Willard, Belinda; Hatzoglou, Maria; Tiranti, Valeria; Quinzii, Catarina M

    2017-01-01

    Coenzyme Q (CoQ) is an electron acceptor for sulfide-quinone reductase (SQR), the first enzyme of the hydrogen sulfide oxidation pathway. Here, we show that lack of CoQ in human skin fibroblasts causes impairment of hydrogen sulfide oxidation, proportional to the residual levels of CoQ. Biochemical and molecular abnormalities are rescued by CoQ supplementation in vitro and recapitulated by pharmacological inhibition of CoQ biosynthesis in skin fibroblasts and ADCK3 depletion in HeLa cells. Kidneys of Pdss2 kd/kd mice, which only have ~15% residual CoQ concentrations and are clinically affected, showed (i) reduced protein levels of SQR and downstream enzymes, (ii) accumulation of hydrogen sulfides, and (iii) glutathione depletion. These abnormalities were not present in brain, which maintains ~30% residual CoQ and is clinically unaffected. In Pdss2 kd/kd mice, we also observed low levels of plasma and urine thiosulfate and increased blood C4-C6 acylcarnitines. We propose that impairment of the sulfide oxidation pathway induced by decreased levels of CoQ causes accumulation of sulfides and consequent inhibition of short-chain acyl-CoA dehydrogenase and glutathione depletion, which contributes to increased oxidative stress and kidney failure. © 2016 The Authors. Published under the terms of the CC BY 4.0 license.

  11. De novo partial duplication 7(q11.2{r_arrow}q21.2) in a dysmorphic, developmentally retarded boy

    SciTech Connect

    Ross, M.; Pinsky, L.; Teebi, A.

    Chromosomal abnormalities involving chromosome 7q are rare; we report a case of partial duplication 7q. The propositus was born at 34 weeks by cesarian section, decided because of oligohydramnios, severe intrauterine growth retardation and fetal immobility. At birth, the baby was under the 5th percentile for height, weight and head circumference and had dysmorphic features, including slight asymmetry of the face, bilateral epicanthus, hypoplastic nasal bridge, short globular nose, asymmetrical dysplastic ears, fifth finger clinodactyly, short second and fifth toe. Ultrasound examination showed atrial and ventricular septal defects. At 18 months, the child had a fracture of the femur, secondarymore » to a minor trauma; skeletal X-rays showed generalized osteoporosis and normal healing. The karyotype with GTG-banding showed a de novo partial duplication of the long arm of chromosome 7 (46,XX,dup(7)(q11.23{r_arrow}q21.2)). Fluorescence in situ hybridization with a painting probe specific for chromosome 7 confirmed the intra-chromosomal rearrangement. The patient`s phenotype and his chromosomal abnormality do not match the previously reported cases of partial trisomy 7q. This case confirms the importance of FISH for the delineation of the chromosomal inbalance in structural chromosomal aberrations.« less

  12. Electroproduction of ϕ(1020) mesons at 1.4Q23.8 GeV2 measured with the CLAS spectrometer

    NASA Astrophysics Data System (ADS)

    Santoro, J. P.; Smith, E. S.; Garçon, M.; Guidal, M.; Laget, J. M.; Weiss, C.; Adams, G.; Amaryan, M. J.; Anghinolfi, M.; Asryan, G.; Audit, G.; Avakian, H.; Bagdasaryan, H.; Baillie, N.; Ball, J.; Ball, J. P.; Baltzell, N. A.; Barrow, S.; Battaglieri, M.; Bedlinskiy, I.; Bektasoglu, M.; Bellis, M.; Benmouna, N.; Berman, B. L.; Biselli, A. S.; Blaszczyk, L.; Bonner, B. E.; Bookwalter, C.; Bouchigny, S.; Boiarinov, S.; Bradford, R.; Branford, D.; Briscoe, W. J.; Brooks, W. K.; Bültmann, S.; Burkert, V. D.; Butuceanu, C.; Calarco, J. R.; Careccia, S. L.; Carman, D. S.; Casey, L.; Cazes, A.; Chen, S.; Cheng, L.; Cole, P. L.; Collins, P.; Coltharp, P.; Cords, D.; Corvisiero, P.; Crabb, D.; Crannell, H.; Crede, V.; Cummings, J. P.; Dale, D.; Dashyan, N.; de Masi, R.; de Sanctis, E.; de Vita, R.; Degtyarenko, P. V.; Denizli, H.; Dennis, L.; Deur, A.; Dhamija, S.; Dharmawardane, K. V.; Dhuga, K. S.; Dickson, R.; Djalali, C.; Dodge, G. E.; Doughty, D.; Dugger, M.; Dytman, S.; Dzyubak, O. P.; Egiyan, H.; Egiyan, K. S.; El Fassi, L.; Elouadrhiri, L.; Eugenio, P.; Fatemi, R.; Fedotov, G.; Feuerbach, R. J.; Ficenec, J.; Forest, T. A.; Fradi, A.; Funsten, H.; Gavalian, G.; Gevorgyan, N.; Gilfoyle, G. P.; Giovanetti, K. L.; Girod, F. X.; Goetz, J. T.; Gohn, W.; Gordon, C. I. O.; Gothe, R. W.; Graham, L.; Griffioen, K. A.; Guillo, M.; Guler, N.; Guo, L.; Gyurjyan, V.; Hadjidakis, C.; Hafidi, K.; Hakobyan, H.; Hanretty, C.; Hardie, J.; Hassall, N.; Heddle, D.; Hersman, F. W.; Hicks, K.; Hleiqawi, I.; Holtrop, M.; Hyde-Wright, C. E.; Ilieva, Y.; Ireland, D. G.; Ishkhanov, B. S.; Isupov, E. L.; Ito, M. M.; Jenkins, D.; Jo, H. S.; Johnstone, J. R.; Joo, K.; Juengst, H. G.; Kalantarians, N.; Keller, D.; Kellie, J. D.; Khandaker, M.; Kim, W.; Klein, A.; Klein, F. J.; Klimenko, A. V.; Kossov, M.; Krahn, Z.; Kramer, L. H.; Kubarovsky, V.; Kuhn, J.; Kuhn, S. E.; Kuleshov, S. V.; Kuznetsov, V.; Lachniet, J.; Langheinrich, J.; Lawrence, D.; Li, Ji; Livingston, K.; Lu, H. Y.; MacCormick, M.; Marchand, C.; Markov, N.; Mattione, P.; McAleer, S.; McKinnon, B.; McNabb, J. W. C.; Mecking, B. A.; Mehrabyan, S.; Melone, J. J.; Mestayer, M. D.; Meyer, C. A.; Mibe, T.; Mikhailov, K.; Minehart, R.; Mirazita, M.; Miskimen, R.; Mokeev, V.; Morand, L.; Moreno, B.; Moriya, K.; Morrow, S. A.; Moteabbed, M.; Mueller, J.; Munevar, E.; Mutchler, G. S.; Nadel-Turonski, P.; Nasseripour, R.; Niccolai, S.; Niculescu, G.; Niculescu, I.; Niczyporuk, B. B.; Niroula, M. R.; Niyazov, R. A.; Nozar, M.; O'Rielly, G. V.; Osipenko, M.; Ostrovidov, A. I.; Park, K.; Park, S.; Pasyuk, E.; Paterson, C.; Pereira, S. Anefalos; Philips, S. A.; Pierce, J.; Pivnyuk, N.; Pocanic, D.; Pogorelko, O.; Popa, I.; Pozdniakov, S.; Preedom, B. M.; Price, J. W.; Procureur, S.; Prok, Y.; Protopopescu, D.; Qin, L. M.; Raue, B. A.; Riccardi, G.; Ricco, G.; Ripani, M.; Ritchie, B. G.; Rosner, G.; Rossi, P.; Sabatié, F.; Saini, M. S.; Salamanca, J.; Salgado, C.; Sapunenko, V.; Schott, D.; Schumacher, R. A.; Serov, V. S.; Sharabian, Y. G.; Sharov, D.; Shvedunov, N. V.; Skabelin, A. V.; Smith, L. C.; Sober, D. I.; Sokhan, D.; Stavinsky, A.; Stepanyan, S. S.; Stepanyan, S.; Stokes, B. E.; Stoler, P.; Strakovsky, I. I.; Strauch, S.; Taiuti, M.; Tedeschi, D. J.; Tkabladze, A.; Tkachenko, S.; Todor, L.; Tur, C.; Ungaro, M.; Vineyard, M. F.; Vlassov, A. V.; Watts, D. P.; Weinstein, L. B.; Weygand, D. P.; Williams, M.; Wolin, E.; Wood, M. H.; Yegneswaran, A.; Yurov, M.; Zana, L.; Zhang, J.; Zhao, B.; Zhao, Z. W.

    2008-08-01

    Electroproduction of exclusive ϕ vector mesons has been studied with the CLAS detector in the kinematic range 1.4Q23.8 GeV2,0.0⩽t'⩽3.6 GeV2, and 2.0⩽W⩽3.0 GeV. The scaling exponent for the total cross section as 1/(Q2+Mϕ2)n was determined to be n=2.49±0.33. The slope of the four-momentum transfer t' distribution is bϕ=0.98±0.17 GeV-2. Under the assumption of s-channel helicity conservation, we determine the ratio of longitudinal to transverse cross sections to be R=0.86±0.24. A two-gluon exchange model is able to reproduce the main features of the data.

  13. Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia

    PubMed Central

    Sun, Miao; Li, Ning; Dong, Wu; Chen, Zugen; Liu, Qing; Xu, Yiming; He, Guang; Shi, Yongyong; Li, Xin; Hao, Jiajie; Luo, Yang; Shang, Dandan; Lv, Dan; Ma, Fen; Zhang, Dai; Hua, Rui; Lu, Chaoxia; Wen, Yaran; Cao, Lihua; Irvine, Alan D.; McLean, W.H. Irwin; Dong, Qi; Wang, Ming-Rong; Yu, Jun; He, Lin; Lo, Wilson H.Y.; Zhang, Xue

    2009-01-01

    Congenital generalized hypertrichosis terminalis (CGHT) is a rare condition characterized by universal excessive growth of pigmented terminal hairs and often accompanied with gingival hyperplasia. In the present study, we describe three Han Chinese families with autosomal-dominant CGHT and a sporadic case with extreme CGHT and gingival hyperplasia. We first did a genome-wide linkage scan in a large four-generation family. Our parametric multipoint linkage analysis revealed a genetic locus for CGHT on chromosome 17q24.2-q24.3. Further two-point linkage and haplotyping with microsatellite markers from the same chromosome region confirmed the genetic mapping and showed in all the families a microdeletion within the critical region that was present in all affected individuals but not in unaffected family members. We then carried out copy-number analysis with the Affymetrix Genome-Wide Human SNP Array 6.0 and detected genomic microdeletions of different sizes and with different breakpoints in the three families. We validated these microdeletions by real-time quantitative PCR and confirmed their perfect cosegregation with the disease phenotype in the three families. In the sporadic case, however, we found a de novo microduplication. Two-color interphase FISH analysis demonstrated that the duplication was inverted. These copy-number variations (CNVs) shared a common genomic region in which CNV is not reported in the public database and was not detected in our 434 unrelated Han Chinese normal controls. Thus, pathogenic copy-number mutations on 17q24.2-q24.3 are responsible for CGHT with or without gingival hyperplasia. Our work identifies CGHT as a genomic disorder. PMID:19463983

  14. First result from Q weak

    SciTech Connect

    Armstrong, David S.; Battaglieri, M.; D'Angelo, A.

    2014-01-01

    Initial results are presented from the recently-completed Q{sub weak} experiment at Jefferson Lab. The goal is a precise measurement of the proton's weak charge Q{sub w}{sup p}, to yield a test of the standard model and to search for evidence of new physics. The weak charge is extracted from the parity-violating asymmetry in elastic {rvec e}p scattering at low momentum transfer, Q{sup 2} = 0.025GeV{sup 2}. A 180 {micro} A longitudinally-polarized 1.16 GeV electron beam was scattered from a 35 cm long liquid hydrogen at small angles, 6 {degrees} < {theta} < 12 {degrees} Scattered electrons were analyzed in amore » toroidal magnetic field and detected using an array of eight Cerenkov detectors arranged symmetrically about the beam axis. The initial result, from 4% of the complete data set, is Q{sub W}{sup p} = 0.064 ± 0.012, in excellent agreement with the standard model expectation. Full analysis of the data is expected to yield a value for the weak charge to about 5% precision.« less

  15. Propagation of self-localized Q -ball solitons in the 3He universe

    NASA Astrophysics Data System (ADS)

    Autti, S.; Heikkinen, P. J.; Volovik, G. E.; Zavjalov, V. V.; Eltsov, V. B.

    2018-01-01

    In relativistic quantum field theories, compact objects of interacting bosons can become stable owing to conservation of an additive quantum number Q . Discovering such Q balls propagating in the universe would confirm supersymmetric extensions of the standard model and may shed light on the mysteries of dark matter, but no unambiguous experimental evidence exists. We have created long-lived Q -ball solitons in superfluid 3He, where the role of the Q ball is played by a Bose-Einstein condensate of magnon quasiparticles. The principal qualitative attribute of a Q ball is observed experimentally: its propagation in space together with the self-created potential trap. Additionally, we show that this system allows for a quantitatively accurate representation of the Q -ball Hamiltonian. Our Q ball belongs to the class of the Friedberg-Lee-Sirlin Q balls with an additional neutral field ζ , which is provided by the orbital part of the Nambu-Goldstone mode. Multiple Q balls can be created in the experiment, and we have observed collisions between them. This set of features makes the magnon condensates in superfluid 3He a versatile platform for studies of Q -ball dynamics and interactions in three spatial dimensions.

  16. Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome

    PubMed Central

    He, Cuiwen H.; Black, Dylan S.; Allan, Christopher M.; Meunier, Brigitte; Rahman, Shamima; Clarke, Catherine F.

    2017-01-01

    Coq9 is required for the stability of a mitochondrial multi-subunit complex, termed the CoQ-synthome, and the deamination step of Q intermediates that derive from para-aminobenzoic acid (pABA) in yeast. In human, mutations in the COQ9 gene cause neonatal-onset primary Q10 deficiency. In this study, we determined whether expression of human COQ9 could complement yeast coq9 point or null mutants. We found that expression of human COQ9 rescues the growth of the temperature-sensitive yeast mutant, coq9-ts19, on a non-fermentable carbon source and increases the content of Q6, by enhancing Q biosynthesis from 4-hydroxybenzoic acid (4HB). To study the mechanism for the rescue by human COQ9, we determined the steady-state levels of yeast Coq polypeptides in the mitochondria of the temperature-sensitive yeast coq9 mutant expressing human COQ9. We show that the expression of human COQ9 significantly increased steady-state levels of yeast Coq4, Coq6, Coq7, and Coq9 at permissive temperature. Human COQ9 polypeptide levels persisted at non-permissive temperature. A small amount of the human COQ9 co-purified with tagged Coq6, Coq6-CNAP, indicating that human COQ9 interacts with the yeast Q-biosynthetic complex. These findings suggest that human COQ9 rescues the yeast coq9 temperature-sensitive mutant by stabilizing the CoQ-synthome and increasing Q biosynthesis from 4HB. This finding provides a powerful approach to studying the function of human COQ9 using yeast as a model. PMID:28736527

  17. Ectrodactyly and proximal/intermediate interstitial deletion 7q

    SciTech Connect

    McElveen, C.; Carvajal, M.V.; Moscatello, D.

    1995-03-13

    We report on an individual with severe mental retardation, seizures, microcephaly, unusual face, scoliosis, and cleft feet and cleft right hand. The chromosomal study showed a proximal interstitial deletion 7q (q11.23q22). From our review of the literature, 11 patients have been reported with ectrodactyly (split hand/split foot malformation) and proximal/intermediate interstitial deletions or rearrangements of 7q. The critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22.1. This malformation is present in 41% of the patients whose deletion involves the critical segment. 37 refs., 3 figs., 1 tab.

  18. Prognostic performance of Emergency Severity Index (ESI) combined with qSOFA score.

    PubMed

    Kwak, Hyeongkyu; Suh, Gil Joon; Kim, Taegyun; Kwon, Woon Yong; Kim, Kyung Su; Jung, Yoon Sun; Ko, Jung-In; Shin, So Mi

    2018-01-31

    We conducted this study to investigate whether ESI combined with qSOFA score (ESI+qSOFA) predicts hospital outcome better than ESI alone in the emergency department (ED). This was a retrospective study for patients aged over 15years who visited an ED of a tertiary referral hospital from January 1st, 2015 to December 31st, 2015. We calculated and compared predictive performances of ESI alone and ESI+qSOFA for prespecified outcomes. The primary outcome was hospital mortality, and the secondary outcome was composite outcome of in-hospital mortality and ICU admission. We calculated in-hospital mortality rates by positive qSOFA in each subgroup divided according to ESI levels (1, 2, 3, 4+5). 43,748 patients were enrolled. The area under receiver-operating characteristics curves were higher in ESI+qSOFA than in ESI alone for both mortality and composite outcome (0.786 vs. 0.777, P<.001 for mortality; 0.778 vs. 0.774, P<.001 for composite outcome). In each subgroup divided by ESI levels, patients with positive qSOFA had significantly higher in-hospital mortality rate compared to those with negative qSOFA (20.4% vs. 14.7%, P=.117 in ESI level 1 subgroup; 11.3% vs. 2.7%, P=.001 in ESI level 2 subgroup; 2.3% vs. 0.4%, P<.001 in ESI level 3 subgroup; 0.0% vs. 0.0% in ESI level 4 or 5 subgroup). The prognostic performance of ESI+qSOFA for in-hospital mortality was significantly higher than that of ESI alone. Within each subgroup, patients with positive qSOFA had higher in-hospital mortality compared to those with negative qSOFA. Copyright © 2018 Elsevier Inc. All rights reserved.

  19. Modulation of Ca2+ Activity in Cardiomyocytes through Caveolae-Gαq Interactions

    PubMed Central

    Guo, Yuanjian; Golebiewska, Urszula; Scarlata, Suzanne

    2011-01-01

    Cardiomyocytes have a complex Ca2+ behavior and changes in this behavior may underlie certain disease states. Intracellular Ca2+ activity can be regulated by the phospholipase Cβ–Gαq pathway localized on the plasma membrane. The plasma membranes of cardiomycoytes are rich in caveolae domains organized by caveolin proteins. Caveolae may indirectly affect cell signals by entrapping and localizing specific proteins. Recently, we found that caveolin may specifically interact with activated Gαq, which could affect Ca2+ signals. Here, using fluorescence imaging and correlation techniques we show that Gαq-Gβγ subunits localize to caveolae in adult ventricular canine cardiomyoctyes. Carbachol stimulation releases Gβγ subunits from caveolae with a concurrent stabilization of activated Gαq by caveolin-3 (Cav3). These cells show oscillating Ca2+ waves that are not seen in neonatal cells that do not contain Cav3. Microinjection of a peptide that disrupts Cav3-Gαq association, but not a control peptide, extinguishes the waves. Furthermore, these waves are unchanged with rynaodine treatment, but not seen with treatment of a phospholipase C inhibitor, implying that Cav3-Gαq is responsible for this Ca2+ activity. Taken together, these studies show that caveolae play a direct and active role in regulating basal Ca2+ activity in cardiomyocytes. PMID:21463572

  20. Diode-Pumped, 2-Micron, Q-Switched Thulium: Y3Al5O12 (Tm:Yag) Microchip Laser

    DTIC Science & Technology

    2011-05-01

    switch with a chromium -doped zinc selenide crystal acting as a saturable absorber passive Q-switch. Finally, we will propose possible future...literature by Heine and Huber [4] and others, while passive Q-switching of 2 μm lasers by a chromium -doped zinc selenide has been demonstrated by Tsai and...these objectives for each component of the laser system. In Chapter 4 a design is presented for replacing our acousto-optic Q-switch with a chromium

  1. Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry.

    PubMed

    Lin, Amy; Ching, Christopher R K; Vajdi, Ariana; Sun, Daqiang; Jonas, Rachel K; Jalbrzikowski, Maria; Kushan-Wells, Leila; Pacheco Hansen, Laura; Krikorian, Emma; Gutman, Boris; Dokoru, Deepika; Helleman, Gerhard; Thompson, Paul M; Bearden, Carrie E

    2017-06-28

    Reciprocal chromosomal rearrangements at the 22q11.2 locus are associated with elevated risk of neurodevelopmental disorders. The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. Here we conducted the first study of 22q11.2 gene dosage effects on brain structure in a sample of 143 human subjects: 66 with 22q11.2 deletions (22q-del; 32 males), 21 with 22q11.2 duplications (22q-dup; 14 males), and 56 age- and sex-matched controls (31 males). 22q11.2 gene dosage varied positively with intracranial volume, gray and white matter volume, and cortical surface area (deletion < control < duplication). In contrast, gene dosage varied negatively with mean cortical thickness (deletion > control > duplication). Widespread differences were observed for cortical surface area with more localized effects on cortical thickness. These diametric patterns extended into subcortical regions: 22q-dup carriers had a significantly larger right hippocampus, on average, but lower right caudate and corpus callosum volume, relative to 22q-del carriers. Novel subcortical shape analysis revealed greater radial distance (thickness) of the right amygdala and left thalamus, and localized increases and decreases in subregions of the caudate, putamen, and hippocampus in 22q-dup relative to 22q-del carriers. This study provides the first evidence that 22q11.2 is a genomic region associated with gene-dose-dependent brain phenotypes. Pervasive effects on cortical surface area imply that this copy number variant affects brain structure early in the course of development. SIGNIFICANCE STATEMENT Probing naturally occurring reciprocal copy number variation in the genome may help us understand mechanisms underlying deviations from typical brain and cognitive development. The 22q11.2 genomic region is particularly susceptible to chromosomal

  2. Effects of inspired CO2, hyperventilation, and time on VA/Q inequality in the dog

    NASA Technical Reports Server (NTRS)

    Tsukimoto, K.; Arcos, J. P.; Schaffartzik, W.; Wagner, P. D.; West, J. B.

    1992-01-01

    In a recent study by Tsukimoto et al. (J. Appl. Physiol. 68: 2488-2493, 1990), CO2 inhalation appeared to reduce the size of the high ventilation-perfusion ratio (VA/Q) mode commonly observed in anesthetized mechanically air-ventilated dogs. In that study, large tidal volumes (VT) were used during CO2 inhalation to preserve normocapnia. To separate the influences of CO2 and high VT on the VA/Q distribution in the present study, we examined the effect of inspired CO2 on the high VA/Q mode using eight mechanically ventilated dogs (4 given CO2, 4 controls). The VA/Q distribution was measured first with normal VT and then with increased VT. In the CO2 group at high VT, data were collected before, during, and after CO2 inhalation. With normal VT, there was no difference in the size of the high VA/Q mode between groups [10.5 +/- 3.5% (SE) of ventilation in the CO2 group, 11.8 +/- 5.2% in the control group]. Unexpectedly, the size of the high VA/Q mode decreased similarly in both groups over time, independently of the inspired PCO2, at a rate similar to the fall in cardiac output over time. The reduction in the high VA/Q mode together with a simultaneous increase in alveolar dead space (estimated by the difference between inert gas dead space and Fowler dead space) suggests that poorly perfused high VA/Q areas became unperfused over time. A possible mechanism is that elevated alveolar pressure and decreased cardiac output eliminate blood flow from corner vessels in nondependent high VA/Q regions.

  3. 22q11.2 deletion syndrome

    PubMed Central

    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

  4. A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.

    PubMed Central

    Valerio, D; Lavorgna, F; Scalona, M; Conte, A

    1993-01-01

    A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac malformations (Fallot's tetralogy), genitourinary and gastrointestinal anomalies, and agenesis of the corpus callosum. A comparison with other reported cases of partial trisomy 19q is presented. A hypothesis is proposed to account for the involvement of p13 regions of different acrocentrics in some cases of familial translocations involving a chromosome 19. Images PMID:8411060

  5. Biallelic losses of 13q do not confer a poorer outcome in chronic lymphocytic leukaemia: analysis of 627 patients with isolated 13q deletion.

    PubMed

    Puiggros, Anna; Delgado, Julio; Rodriguez-Vicente, Ana; Collado, Rosa; Aventín, Anna; Luño, Elisa; Grau, Javier; Hernandez, José Ángel; Marugán, Isabel; Ardanaz, Maite; González, Teresa; Valiente, Alberto; Osma, Mar; Calasanz, Maria José; Sanzo, Carmen; Carrió, Ana; Ortega, Margarita; Santacruz, Rodrigo; Abrisqueta, Pau; Abella, Eugènia; Bosch, Francesc; Carbonell, Félix; Solé, Francesc; Hernández, Jesús Maria; Espinet, Blanca

    2013-10-01

    Losses in 13q as a sole abnormality confer a good prognosis in chronic lymphocytic leukaemia (CLL). Nevertheless, its heterogeneity has been demonstrated and the clinical significance of biallelic 13q deletions remains controversial. We compared the clinico-biological characteristics of a series of 627 patients harbouring isolated 13q deletions by fluorescence in situ hybridization (FISH), either monoallelic (13q × 1), biallelic (13q × 2), or the coexistence of both clones (13qM). The most frequent 13q deletion was 13q × 1 (82·1%), while 13q × 2 and 13qM represented 8·6% and 9·3% of patients respectively. The median percentage of altered nuclei significantly differed across groups: 55%, 72·5% and 80% in 13q × 1, 13q × 2 and 13qM (P < 0·001). However, no significant differences in the clinical outcome among 13q groups were found. From 84 patients with sequential FISH studies, eight patients lost the remaining allele of 13q whereas none of them changed from 13q × 2 to the 13q × 1 group. The percentage of abnormal cells detected by FISH had a significant impact on the five-year cumulative incidence of treatment and the overall survival, 90% being the highest predictive power cut-off. In conclusion, loss of the remaining 13q allele is not enough to entail a worse prognosis in CLL. The presence of isolated 13q deletion can be risk-stratified according to the percentage of altered cells. © 2013 John Wiley & Sons Ltd.

  6. Application of the CC(P;Q) Hierarchy of Coupled-Cluster Methods to the Beryllium Dimer.

    PubMed

    Magoulas, Ilias; Bauman, Nicholas P; Shen, Jun; Piecuch, Piotr

    2018-02-08

    The performance of coupled-cluster approaches with higher-than-doubly excited clusters, including the CCSD(T), CCSD(2) T , CR-CC(2,3), CCSD(TQ), and CR-CC(2,4) corrections to CCSD, the active-space CCSDt, CCSDtq, and CCSDTq methods, and the CC(t;3), CC(t,q;3), CC(t,q;3,4), and CC(q;4) corrections to CCSDt, CCSDtq, and CCSDTq resulting from the CC(P;Q) formalism, in reproducing the CCSDT and CCSDTQ potential energy curves and vibrational term values characterizing Be 2 in its electronic ground state is assessed. The correlation-consistent aug-cc-pVnZ and aug-cc-pCVnZ (n = T and Q) basis sets are employed. Among the CCSD-based corrections, the completely renormalized CR-CC(2,3) and CR-CC(2,4) approaches perform the best. The CC(t;3), CC(t,q;3), CC(t,q;3,4), and CC(q;4) methods, especially CC(t;3) and CC(q;4), outperform other employed approaches in reproducing the CCSDT and CCSDTQ data. Composite schemes combining the all-electron CCSDT calculations extrapolated to the complete basis set limit with the frozen-core CC(q;4) and CCSDTQ computations using the aug-cc-pVTZ basis to account for connected quadruple excitations reproduce the latest experimental vibrational spectrum of Be 2 to within 4-5 cm -1 , when the vibrational spacings are examined, with typical errors being below 1-2 cm -1 . The resulting binding energies and equilibrium bond lengths agree with their experimentally derived counterparts to within ∼10 cm -1 and 0.01 Å.

  7. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

    PubMed

    Demaerel, Wolfram; Hestand, Matthew S; Vergaelen, Elfi; Swillen, Ann; López-Sánchez, Marcos; Pérez-Jurado, Luis A; McDonald-McGinn, Donna M; Zackai, Elaine; Emanuel, Beverly S; Morrow, Bernice E; Breckpot, Jeroen; Devriendt, Koenraad; Vermeesch, Joris R

    2017-10-05

    Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A-D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A-B 22q11.2 deletion carry inversions of LCR22B-D or LCR22C-D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders. Copyright © 2017. Published by Elsevier Inc.

  8. Divergent Total Syntheses of (-)-Huperzine Q, (+)-Lycopladine B, (+)-Lycopladine C, and (-)-4-epi-Lycopladine D.

    PubMed

    Hong, Benke; Hu, Dachao; Wu, Jinbao; Zhang, Jing; Li, Houhua; Pan, Yingming; Lei, Xiaoguang

    2017-07-04

    We report herein our synthetic efforts towards the divergent syntheses of (-)-huperzine Q (1), (+)-lycopladine B (2), (+)-lycopladine C (3), and (-)-lycopladine D (4). The 10-step total synthesis of (-)-huperzine Q (1) and the first total syntheses of (+)-lycopladines B (2) and C (3) were accomplished through a series of cascade reactions. Our approach involved a Michael addition/aldol/intramolecular C-alkylation sequence to forge the 6/9 spirocycle ring, and this was followed by an ethylene-accelerated carbonyl-olefin metathesis to construct the common 6/5/9 ring system. Finally, late-stage enamine bromofunctionalization enabled us to access (-)-huperzine Q (1), (+)-lycopladine B (2), and (+)-lycopladine C (3), and a tandem C4-epimerization/retro-Claisen condensation furnished (-)-4-epi-lycopladine D (63). © 2017 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

  9. Effects of drought and shade on growth and water use of Quercus alba, Q. bicolor, Q. imbricaria and Q. palustris seedlings

    Treesearch

    Joseph J. McCarthy; Jeffrey O. Dawson

    1991-01-01

    Growth and water use efficiency were determined for 2-year-old white oak (Quercus alba), swamp white oak (Q. imbricaria) and pin oak (Q. palustris) seedlings grown under three shade treatments (30, 55 and 73%) and two irrigation regimes (container capacity and mild drought). With species and water regimes...

  10. Prognostic significance of electrocardiographic Q-waves in a low-risk population.

    PubMed

    Godsk, Peter; Jensen, Jan Skov; Abildstrøm, Steen Z; Appleyard, Merete; Pedersen, Sune; Mogelvang, Rasmus

    2012-07-01

    In individuals without known heart disease, electrocardiographic Q-waves predict a poor prognosis. We aimed to examine whether prognostic information can be derived from the size and location of Q-waves in persons from the general population without known ischaemic heart disease (IHD) or heart failure (HF). Electrocardiograms (ECGs) of 5381 persons without known IHD or HF from the 4th Copenhagen City Heart Study were reviewed and Q-waves were classified according to their size and location. Multivariate Cox proportional hazards regression models were used to examine the associations of Q-waves adjusted for age, hypertension, diabetes, and estimated glomerular filtration rate with the risk of the combined endpoint of death and hospitalization for IHD. During a median of 7.8 years of follow-up, 1003 persons reached the combined endpoint. One hundred and fourteen (2.1%) had pathological Q-waves, of whom 44% suffered from an event compared with 18% from the control group, P< 0.001. Persons with hypertension, diabetes, and impaired renal function were more likely to have Q-waves. Even small Q-waves (i.e. Minnesota code 1.2.x-1.3.x) were associated with a poor prognosis, hazard ratio (HR) 1.4 [95% confidence interval (CI): 1.0-2.0; P< 0.05], though not as grave as large Q-waves (i.e. Minnesota code 1.1.x) HR 2.8 (95%CI: 1.6-5.0; P< 0.001). Conversely, there was no difference in the outcome of patients with anteriorly HR 1.6 (95%CI: 1.1-2.4) vs. posteriorly HR 1.5 (95%CI: 0.9-2.4) located Q-waves (P= 0.85). In the general population without known IHD or HF, even small Q-waves in the ECG are associated with a poor prognosis.

  11. Observation of enhanced zero-degree binary encounter electron production with decreasing charge-state q in 30 MeV O{sup q+} + O{sub 2} collisions

    SciTech Connect

    Zouros, T.J.M.; Wong, K.L.; Hidmi, H.I.

    We have measured binary encounter electron production in collisions of 30 MeV O{sup q+} projectiles (q=4-8) and O{sub 2} targets. Measured double differential BEe cross-sections are found to increase with decreasing charge-state q, in agreement with similar previously reported zero-degree investigations for H{sub 2} and He targets. However, measurements for the same system but at 25{degrees} shows the opposite trend, that BEe cross sections decrease slightly with decreasing charge state.

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

    PubMed

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

    2014-11-01

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

  13. The mitochondria-targeted antioxidant MitoQ attenuates liver fibrosis in mice.

    PubMed

    Rehman, Hasibur; Liu, Qinlong; Krishnasamy, Yasodha; Shi, Zengdun; Ramshesh, Venkat K; Haque, Khujista; Schnellmann, Rick G; Murphy, Michael P; Lemasters, John J; Rockey, Don C; Zhong, Zhi

    2016-01-01

    Oxidative stress plays an essential role in liver fibrosis. This study investigated whether MitoQ, an orally active mitochondrial antioxidant, decreases liver fibrosis. Mice were injected with corn oil or carbon tetrachloride (CCl4, 1:3 dilution in corn oil; 1 µl/g, ip) once every 3 days for up to 6 weeks. 4-Hydroxynonenal adducts increased markedly after CCl4 treatment, indicating oxidative stress. MitoQ attenuated oxidative stress after CCl4. Collagen 1α1 mRNA and hydroxyproline increased markedly after CCl4 treatment, indicating increased collagen formation and deposition. CCl4 caused overt pericentral fibrosis as revealed by both the sirius red staining and second harmonic generation microscopy. MitoQ blunted fibrosis after CCl4. Profibrotic transforming growth factor-β1 (TGF-β1) mRNA and expression of smooth muscle α-actin, an indicator of hepatic stellate cell (HSC) activation, increased markedly after CCl4 treatment. Smad 2/3, the major mediator of TGF-β fibrogenic effects, was also activated after CCl4 treatment. MitoQ blunted HSC activation, TGF-β expression, and Smad2/3 activation after CCl4 treatment. MitoQ also decreased necrosis, apoptosis and inflammation after CCl4 treatment. In cultured HSCs, MitoQ decreased oxidative stress, inhibited HSC activation, TGF-β1 expression, Smad2/3 activation, and extracellular signal-regulated protein kinase activation. Taken together, these data indicate that mitochondrial reactive oxygen species play an important role in liver fibrosis and that mitochondria-targeted antioxidants are promising potential therapies for prevention and treatment of liver fibrosis.

  14. The mitochondria-targeted antioxidant MitoQ attenuates liver fibrosis in mice

    PubMed Central

    Rehman, Hasibur; Liu, Qinlong; Krishnasamy, Yasodha; Shi, Zengdun; Ramshesh, Venkat K; Haque, Khujista; Schnellmann, Rick G; Murphy, Michael P; Lemasters, John J; Rockey, Don C; Zhong, Zhi

    2016-01-01

    Oxidative stress plays an essential role in liver fibrosis. This study investigated whether MitoQ, an orally active mitochondrial antioxidant, decreases liver fibrosis. Mice were injected with corn oil or carbon tetrachloride (CCl4, 1:3 dilution in corn oil; 1 µl/g, ip) once every 3 days for up to 6 weeks. 4-Hydroxynonenal adducts increased markedly after CCl4 treatment, indicating oxidative stress. MitoQ attenuated oxidative stress after CCl4. Collagen 1α1 mRNA and hydroxyproline increased markedly after CCl4 treatment, indicating increased collagen formation and deposition. CCl4 caused overt pericentral fibrosis as revealed by both the sirius red staining and second harmonic generation microscopy. MitoQ blunted fibrosis after CCl4. Profibrotic transforming growth factor-β1 (TGF-β1) mRNA and expression of smooth muscle α-actin, an indicator of hepatic stellate cell (HSC) activation, increased markedly after CCl4 treatment. Smad 2/3, the major mediator of TGF-β fibrogenic effects, was also activated after CCl4 treatment. MitoQ blunted HSC activation, TGF-β expression, and Smad2/3 activation after CCl4 treatment. MitoQ also decreased necrosis, apoptosis and inflammation after CCl4 treatment. In cultured HSCs, MitoQ decreased oxidative stress, inhibited HSC activation, TGF-β1 expression, Smad2/3 activation, and extracellular signal-regulated protein kinase activation. Taken together, these data indicate that mitochondrial reactive oxygen species play an important role in liver fibrosis and that mitochondria-targeted antioxidants are promising potential therapies for prevention and treatment of liver fibrosis. PMID:27186319

  15. EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

    PubMed

    Li, Chuan; Chen, Rongyu; Fan, Xin; Luo, Jingsi; Qian, Jiale; Wang, Jin; Xie, Bobo; Shen, Yiping; Chen, Shaoke

    2015-04-11

    Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. We reported a 4-year and 6 month-old boy with a rare combination of WS1 and severe short stature (83.5 cm (-5.8SD)). His facial features include dystopia canthorum, mild synophrys, slightly up-slanted palpebral fissure, posteriorly rotated ears, alae nasi hypoplasia and micrognathia. No heterochromia was noticed. He had a normal intelligence quotient and hearing. Insulin-like growth factor-1 (IGF-1) was 52.7 ng/ml, lower than the normal range (55 ~ 452 ng/ml) and the peak growth hormone level was 7.57 ng/ml at 90 minutes after taking moderate levodopa and pyridostigmine bromide. The patient exhibited a good response to human growth hormone (rhGH) replacement therapy, showing a 9.2 cm/year growth rate and an improvement of 1 standard deviation (SD) of height after one year treatment. CMA test of patient's DNA revealed a 4.46 Mb de novo deletion at 2q35-q36.2 (hg19; chr2:221,234,146-225,697,363). PAX3 haploinsufficiency is known to cause Waardenburg syndrome. Examining overlapping deletions in patients led to the conclusion that EPHA4 is a novel short stature gene. The finding is supported by the splotch-retarded and epha4 knockout mouse models which both showed growth retardation. We believe this rare condition is caused by the haploinsufficiency of both PAX3 and EPH4 genes. We further reported a growth response to recombinant human growth hormone treatment in this patient.

  16. NADPH-dependent coenzyme Q reductase is the main enzyme responsible for the reduction of non-mitochondrial CoQ in cells.

    PubMed

    Takahashi, Takayuki; Okuno, Masaaki; Okamoto, Tadashi; Kishi, Takeo

    2008-01-01

    We purified an NADPH-dependent coenzyme Q reductase (NADPH-CoQ reductase) in rat liver cytosol and compared its enzymatic properties with those of the other CoQ10 reductases such as NADPH: quinone acceptor oxidoreductase 1 (NQO1), lipoamide dehydrogenase, thioredoxine reductase and glutathione reductase. NADPH-CoQ reductase was the only enzyme that preferred NADPH to NADH as an electron donor and was also different from the other CoQ10 reductases in the sensitivities to its inhibitors and stimulators. Especially, Zn2+ was the most powerful inhibitor for NADPH-CoQ reductase, but CoQ10 reduction by the other CoQ10 reductases could not be inhibited by Zn2+. Furthermore, the reduction of the CoQ9 incorporated into HeLa cells was also inhibited by Zn2+ in the presence of pyrithione, a zinc ionophore. Moreover, NQO1 gene silencing in HeLa cells by transfection of a small interfering RNA resulted in lowering of both the NQO1 protein level and the NQO1 activity by about 75%. However, this transfection did not affect the NADPH-CoQ reductase activity and the reduction of CoQ9 incorporated into the cells. These results suggest that the NADPH-CoQ reductase located in cytosol may be the main enzyme responsible for the reduction of non-mitochondrial CoQ in cells.

  17. Visual processing deficits in 22q11.2 Deletion Syndrome.

    PubMed

    Biria, Marjan; Tomescu, Miralena I; Custo, Anna; Cantonas, Lucia M; Song, Kun-Wei; Schneider, Maude; Murray, Micah M; Eliez, Stephan; Michel, Christoph M; Rihs, Tonia A

    2018-01-01

    Carriers of the rare 22q11.2 microdeletion present with a high percentage of positive and negative symptoms and a high genetic risk for schizophrenia. Visual processing impairments have been characterized in schizophrenia, but less so in 22q11.2 Deletion Syndrome (DS). Here, we focus on visual processing using high-density EEG and source imaging in 22q11.2DS participants (N = 25) and healthy controls (N = 26) with an illusory contour discrimination task. Significant differences between groups emerged at early and late stages of visual processing. In 22q11.2DS, we first observed reduced amplitudes over occipital channels and reduced source activations within dorsal and ventral visual stream areas during the P1 (100-125 ms) and within ventral visual cortex during the N1 (150-170 ms) visual evoked components. During a later window implicated in visual completion (240-285 ms), we observed an increase in global amplitudes in 22q11.2DS. The increased surface amplitudes for illusory contours at this window were inversely correlated with positive subscales of prodromal symptoms in 22q11.2DS. The reduced activity of ventral and dorsal visual areas during early stages points to an impairment in visual processing seen both in schizophrenia and 22q11.2DS. During intervals related to perceptual closure, the inverse correlation of high amplitudes with positive symptoms suggests that participants with 22q11.2DS who show an increased brain response to illusory contours during the relevant window for contour processing have less psychotic symptoms and might thus be at a reduced prodromal risk for schizophrenia.

  18. A measurement of the proton structure function F2( x, Q2)

    NASA Astrophysics Data System (ADS)

    Ahmed, T.; Aid, S.; Akhundov, A.; Andreev, V.; Andrieu, B.; Appuhn, R.-D.; Arpagaus, M.; Babaev, A.; Baehr, J.; Bán, J.; Baranov, P.; Barrelet, E.; Bartel, W.; Barth, M.; Bassler, U.; Beck, H. P.; Behrend, H.-J.; Belousov, A.; Berger, Ch.; Bergstein, H.; Bernardi, G.; Bernet, R.; Bertrand-Coremans, G.; Besançon, M.; Beyer, R.; Biddulph, P.; Bizot, J. C.; Blobel, V.; Borras, K.; Botterweck, F.; Boudry, V.; Braemer, A.; Brasse, F.; Braunschweig, W.; Brisson, V.; Bruncko, D.; Brune, C.; Buchholz, R.; Büngener, L.; Bürger, J.; Büsser, F. W.; Buniatian, A.; Burke, S.; Buschhorn, G.; Campbell, A. J.; Carli, T.; Charles, F.; Clarke, D.; Clegg, A. B.; Clerbaux, B.; Colombo, M.; Contreras, J. G.; Cormack, C.; Coughlan, J. A.; Courau, A.; Coutures, Ch.; Cozzika, G.; Criegge, L.; Cussans, D. G.; Cvach, J.; Dagoret, S.; Dainton, J. B.; Danilov, M.; Dau, W. D.; Daum, K.; David, M.; Deffur, E.; Delcourt, B.; Del Buono, L.; De Roeck, A.; De Wolf, E. A.; Di Nezza, P.; Dollfus, C.; Dowell, J. D.; Dreis, H. B.; Droutskoi, V.; Duboc, J.; Düllmann, D.; Dünger, O.; Duhm, H.; Ebert, J.; Ebert, T. R.; Eckerlin, G.; Efremenko, V.; Egli, S.; Ehrlichmann, H.; Eichenberger, S.; Eichler, R.; Eisele, F.; Eisenhandler, E.; Ellison, R. J.; Elsen, E.; Erdmann, M.; Erdmann, W.; Evrard, E.; Favart, L.; Fedotov, A.; Feeken, D.; Felst, R.; Feltesse, J.; Ferencei, J.; Ferrarotto, F.; Flamm, K.; Fleischer, M.; Flieser, M.; Flügge, G.; Fomenko, A.; Fominykh, B.; Forbush, M.; Formánek, J.; Foster, J. M.; Franke, G.; Fretwurst, E.; Gabathuler, E.; Gabathuler, K.; Gamerdinger, K.; Garvey, J.; Gayler, J.; Gebauer, M.; Gellrich, A.; Genzel, H.; Gerhards, R.; Goerlach, U.; Goerlich, L.; Gogitidze, N.; Goldberg, M.; Goldner, D.; Gonzalez-Pineiro, B.; Gorelov, I.; Goritchev, P.; Grab, C.; Grässler, H.; Grässler, R.; Greenshaw, T.; Grindhammer, G.; Gruber, A.; Gruber, C.; Haack, J.; Haidt, D.; Hajduk, L.; Hamon, O.; Hampel, M.; Hanlon, E. M.; Hapke, M.; Haynes, W. J.; Heatherington, J.; Heinzelmann, G.; Henderson, R. C. W.; Henschel, H.; Herma, R.; Herynek, I.; Hess, M. F.; Hildesheim, W.; Hill, P.; Hiller, K. H.; Hilton, C. D.; Hladký, J.; Hoeger, K. C.; Höppner, M.; Horisberger, R.; Hudgson, V. L.; Huet, Ph.; Hütte, M.; Hufnagel, H.; Ibbotson, M.; Itterbeck, H.; Jabiol, M.-A.; Jacholkowska, A.; Jacobsson, C.; Jaffre, M.; Janoth, J.; Jansen, T.; Jönsson, L.; Johannsen, K.; Johnson, D. P.; Johnson, L.; Jung, H.; Kalmus, P. I. P.; Kant, D.; Kaschowitz, R.; Kasselmann, P.; Kathage, U.; Katzy, J.; Kaufmann, H. H.; Kazarian, S.; Kenyon, I. R.; Kermiche, S.; Keuker, C.; Kiesling, C.; Klein, M.; Kleinwort, C.; Knies, G.; Ko, W.; Köhler, T.; Köhne, J.; Kolanoski, H.; Kole, F.; Kolya, S. D.; Korbel, V.; Korn, M.; Kostka, P.; Kotelnikov, S. K.; Krämerkämper, T.; Krasny, M. W.; Krehbiel, H.; Krücker, D.; Krüger, U.; Krüner-Marquis, U.; Kubenka, J. P.; Küster, H.; Kuhlen, M.; Kurča, T.; Kurzhöfer, J.; Kuznik, B.; Lacour, D.; Lamarche, F.; Lander, R.; Landon, M. P. J.; Lange, W.; Lanius, P.; Laporte, J.-F.; Lebedev, A.; Leverenz, C.; Levonian, S.; Ley, Ch.; Lindner, A.; Lindström, G.; Linsel, F.; Lipinski, J.; List, B.; Loch, P.; Lohmander, H.; Lopez, G. C.; Lubimov, V.; Lüke, D.; Magnussen, N.; Malinovski, E.; Mani, S.; Maraček, R.; Marage, P.; Marks, J.; Marshall, R.; Martens, J.; Martin, R.; Martyn, H.-U.; Martyniak, J.; Masson, S.; Mavroidis, T.; Maxfield, S. J.; McMahon, S. J.; Mehta, A.; Meier, K.; Mercer, D.; Merz, T.; Meyer, C. A.; Meyer, H.; Meyer, J.; Mikocki, S.; Milstead, D.; Moreau, F.; Morris, J. V.; Mroczko, E.; Müller, G.; Müller, K.; Murín, P.; Nagovizin, V.; Nahnhauer, R.; Naroska, B.; Naumann, Th.; Newman, P. R.; Newton, D.; Neyret, D.; Nguyen, H. K.; Nicholls, T. C.; Niebergall, F.; Niebuhr, C.; Nisius, R.; Nowak, G.; Noyes, G. W.; Nyberg-Werther, M.; Oakden, M.; Oberlack, H.; Obrock, U.; Olsson, J. E.; Panaro, E.; Panitch, A.; Pascaud, C.; Patel, G. D.; Peppel, E.; Perez, E.; Phillips, J. P.; Pichler, Ch.; Pitzl, D.; Pope, G.; Prell, S.; Prosi, R.; Rädel, G.; Raupach, F.; Reimer, P.; Reinshagen, S.; Ribarics, P.; Rick, H.; Riech, V.; Riedlberger, J.; Riess, S.; Rietz, M.; Rizvi, E.; Robertson, S. M.; Robmann, P.; Roloff, H. E.; Roosen, R.; Rosenbauer, K.; Rostovtsev, A.; Rouse, F.; Royon, C.; Rüter, K.; Rusakov, S.; Rybicki, K.; Rylko, R.; Sahlmann, N.; Sanchez, E.; Sankey, D. P. C.; Savitsky, M.; Schacht, P.; Schiek, S.; Schleper, P.; von Schlippe, W.; Schmidt, C.; Schmidt, D.; Schmidt, G.; Schöning, A.; Schröder, V.; Schuhmann, E.; Schwab, B.; Schwind, A.; Seehausen, U.; Sefkow, F.; Seidel, M.; Sell, R.; Semenov, A.; Shekelyan, V.; Sheviakov, I.; Shooshtari, H.; Shtarkov, L. N.; Siegmon, G.; Siewert, U.; Sirois, Y.; Skillicorn, I. O.; Smirnov, P.; Smith, J. R.; Soloviev, Y.; Spiekermann, J.; Spitzer, H.; Starosta, R.; Steenbock, M.; Steffen, P.; Steinberg, R.; Stella, B.; Stephens, K.; Stier, J.; Stiewe, J.; Stösslein, U.; Strachota, J.; Straumann, U.; Struczinski, W.; Sutton, J. P.; Tapprogge, S.; Taylor, R. E.; Tchernyshov, V.; Thiebaux, C.; Thompson, G.; Truöl, P.; Turnau, J.; Tutas, J.; Uelkes, P.; Usik, A.; Valkár, S.; Valkárová, A.; Vallée, C.; Van Esch, P.; Van Mechelen, P.; Vartapetian, A.; Vazdik, Y.; Vecko, M.; Verrecchia, P.; Villet, G.; Wacker, K.; Wagener, A.; Wagener, M.; Walker, I. W.; Walther, A.; Weber, G.; Weber, M.; Wegener, D.; Wegner, A.; Wellisch, H. P.; West, L. R.; Willard, S.; Winde, M.; Winter, G.-G.; Wright, A. E.; Wünsch, E.; Wulff, N.; Yiou, T. P.; Žáček, J.; Zarbock, D.; Zhang, Z.; Zhokin, A.; Zimmer, M.; Zimmermann, W.; Zomer, F.; Zuber, K.; H1 Collaboration

    1995-02-01

    A measurement of the proton structure function F2( x, Q2) is reported for momentum transfers squared Q2 between 4.5 GeV 2 and 1600 GeV 2 and for Bjorken x between 1.8 × 10 -14 and 0.13 using data collected by the HERA experiment H1 in 1993. It is observed that F2 increases significantly with decreasing x, confirming our previous measurement made with one tenth of the data available in this analysis. The Q2 dependence is approximately logarithmic over the full kinematic range covered. The subsample of deep inelastic events with a large pseudo-rapidity gap in the hadronic energy flow close to the proton remnant is used to measure the "diffractive" contribution to F2.

  19. Final analysis of proton form factor ratio data at Q2=4.0, 4.8, and 5.6 GeV2

    NASA Astrophysics Data System (ADS)

    Puckett, A. J. R.; Brash, E. J.; Gayou, O.; Jones, M. K.; Pentchev, L.; Perdrisat, C. F.; Punjabi, V.; Aniol, K. A.; Averett, T.; Benmokhtar, F.; Bertozzi, W.; Bimbot, L.; Calarco, J. R.; Cavata, C.; Chai, Z.; Chang, C.-C.; Chang, T.; Chen, J. P.; Chudakov, E.; De Leo, R.; Dieterich, S.; Endres, R.; Epstein, M. B.; Escoffier, S.; Fissum, K. G.; Fonvieille, H.; Frullani, S.; Gao, J.; Garibaldi, F.; Gilad, S.; Gilman, R.; Glamazdin, A.; Glashausser, C.; Gomez, J.; Hansen, J.-O.; Higinbotham, D.; Huber, G. M.; Iodice, M.; de Jager, C. W.; Jiang, X.; Khandaker, M.; Kozlov, S.; Kramer, K. M.; Kumbartzki, G.; LeRose, J. J.; Lhuillier, D.; Lindgren, R. A.; Liyanage, N.; Lolos, G. J.; Margaziotis, D. J.; Marie, F.; Markowitz, P.; McCormick, K.; Michaels, R.; Milbrath, B. D.; Nanda, S. K.; Neyret, D.; Piskunov, N. M.; Ransome, R. D.; Raue, B. A.; Roché, R.; Rvachev, M.; Salgado, C.; Sirca, S.; Sitnik, I.; Strauch, S.; Todor, L.; Tomasi-Gustafsson, E.; Urciuoli, G. M.; Voskanyan, H.; Wijesooriya, K.; Wojtsekhowski, B. B.; Zheng, X.; Zhu, L.

    2012-04-01

    Precise measurements of the proton electromagnetic form factor ratio R=μpGEp/GMp using the polarization transfer method at Jefferson Lab have revolutionized the understanding of nucleon structure by revealing the strong decrease of R with momentum transfer Q2 for Q2≳1 GeV2, in strong disagreement with previous extractions of R from cross-section measurements. In particular, the polarization transfer results have exposed the limits of applicability of the one-photon-exchange approximation and highlighted the role of quark orbital angular momentum in the nucleon structure. The GEp-II experiment in Jefferson Lab's Hall A measured R at four Q2 values in the range 3.5GeV2Q2≤5.6GeV2. A possible discrepancy between the originally published GEp-II results and more recent measurements at higher Q2 motivated a new analysis of the GEp-II data. This article presents the final results of the GEp-II experiment, including details of the new analysis, an expanded description of the apparatus, and an overview of theoretical progress since the original publication. The key result of the final analysis is a systematic increase in the results for R, improving the consistency of the polarization transfer data in the high-Q2 region. This increase is the result of an improved selection of elastic events which largely removes the systematic effect of the inelastic contamination, underestimated by the original analysis.

  20. 15q11.2–13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain

    PubMed Central

    Yasui, Dag H.; Scoles, Haley A.; Horike, Shin-ichi; Meguro-Horike, Makiko; Dunaway, Keith W.; Schroeder, Diane I.; LaSalle, Janine M.

    2011-01-01

    Copy number variations (CNVs) within human 15q11.2–13.3 show reduced penetrance and variable expressivity in a range of neurologic disorders. Therefore, characterizing 15q11.2–13.3 chromatin structure is important for understanding the regulation of this locus during normal neuronal development. Deletion of the Prader–Willi imprinting center (PWS-IC) within 15q11.2–13.3 disrupts long-range imprinted gene expression resulting in Prader–Willi syndrome. Previous results establish that MeCP2 binds to the PWS-IC and is required for optimal expression of distal GABRB3 and UBE3A. To examine the hypothesis that MeCP2 facilitates 15q11.2–13.3 transcription by linking the PWS-IC with distant elements, chromosome capture conformation on chip (4C) analysis was performed in human SH-SY5Y neuroblastoma cells. SH-SY5Y neurons had 2.84-fold fewer 15q11.2–13.3 PWS-IC chromatin interactions than undifferentiated SH-SY5Y neuroblasts, revealing developmental chromatin de-condensation of the locus. Out of 68 PWS-IC interactions with15q11.2–13.3 identified by 4C analysis and 62 15q11.2–13.3 MeCP2-binding sites identified by previous ChIP-chip studies, only five sites showed overlap. Remarkably, two of these overlapping PWS-IC- and MeCP2-bound sites mapped to sites flanking CHRNA7 (cholinergic receptor nicotinic alpha 7) encoding the cholinergic receptor, nicotinic, alpha 7. PWS-IC interaction with CHRNA7 in neurons was independently confirmed by fluorescent in situ hybridization analysis. Subsequent quantitative transcriptional analyses of frontal cortex from Rett syndrome and autism patients revealed significantly reduced CHRNA7 expression compared with controls. Together, these results suggest that transcription of CHRNA7 is modulated by chromatin interactions with the PWS-IC. Thus, loss of long-range chromatin interactions within 15q11.2–13.3 may contribute to multiple human neurodevelopmental disorders. PMID:21840925

  1. Light scattering Q-space analysis of irregularly shaped particles

    NASA Astrophysics Data System (ADS)

    Heinson, Yuli W.; Maughan, Justin B.; Heinson, William R.; Chakrabarti, Amitabha; Sorensen, Christopher M.

    2016-01-01

    We report Q-space analysis of light scattering phase function data for irregularly shaped dust particles and of theoretical model output to describe them. This analysis involves plotting the scattered intensity versus the magnitude of the scattering wave vector q = (4π/λ)sin(θ/2), where λ is the optical wavelength and θ is the scattering angle, on a double-logarithmic plot. In q-space all the particle shapes studied display a scattering pattern which includes a q-independent forward scattering regime; a crossover, Guinier regime when q is near the inverse size; a power law regime; and an enhanced backscattering regime. Power law exponents show a quasi-universal functionality with the internal coupling parameter ρ'. The absolute value of the exponents start from 4 when ρ' < 1, the diffraction limit, and decreases as ρ' increases until a constant 1.75 ± 0.25 when ρ' ≳ 10. The diffraction limit exponent implies that despite their irregular structures, all the particles studied have mass and surface scaling dimensions of Dm = 3 and Ds = 2, respectively. This is different from fractal aggregates that have a power law equal to the fractal dimension Df because Df = Dm = Ds < 3. Spheres have Dm = 3 and Ds = 2 but do not show a single power law nor the same functionality with ρ'. The results presented here imply that Q-space analysis can differentiate between spheres and these two types of irregularly shaped particles. Furthermore, they are applicable to analysis of the contribution of aerosol radiative forcing to climate change and of aerosol remote sensing data.

  2. Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues.

    PubMed

    Dykens, Elisabeth M; Sutcliffe, James S; Levitt, Pat

    2004-01-01

    New insights into biological factors that underlie autism may be gained by comparing autism to other neurodevelopmental disorders that have autistic features and relatively well-delineated genetic etiologies or neurobiological findings. This review moves beyond global diagnoses of autism and instead uses an endophenotypic approach to compare specific clusters of autistic symptomatology to features of chromosome 15q11-q13 disorders. Paternally or maternally derived deficiencies of 15q11-q13 result in Prader-Willi or Angelman syndromes, and we first use a global approach to review potential autism susceptibility genes in the 15q11-q13 region. We then use a more trait-based approach to suggest possible ties between specific phenotypic characteristics of autism and Prader-Willi syndrome, namely savant-like skills. We conclude with insights from pathophysiological studies that implicate altered development of specific neuron types and circuits in the cerebral cortex as part of the pathophysiological processes associated with autism and mental retardation. Copyright 2004 Wiley-Liss, Inc.

  3. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency.

    PubMed

    Di Giovanni, S; Mirabella, M; Spinazzola, A; Crociani, P; Silvestri, G; Broccolini, A; Tonali, P; Di Mauro, S; Servidei, S

    2001-08-14

    Two brothers with myopathic coenzyme Q10 (CoQ10) deficiency responded dramatically to CoQ10 supplementation. Muscle biopsies before therapy showed ragged-red fibers, lipid storage, and complex I + III and II + III deficiency. Approximately 30% of myofibers had multiple features of apoptosis. After 8 months of treatment, excessive lipid storage resolved, CoQ10 level normalized, mitochondrial enzymes increased, and proportion of fibers with TUNEL-positive nuclei decreased to 10%. The authors conclude that muscle CoQ10 deficiency can be corrected by supplementation of CoQ10, which appears to stimulate mitochondrial proliferation and to prevent apoptosis.

  4. N*(1535) electroproduction at high Q2

    SciTech Connect

    G. Ramalho, M.T. Pena, K. Tsushima

    2012-04-01

    A covariant spectator quark model is applied to study the {gamma}N {yields} N*(1535) reaction in the large Q{sup 2} region. Starting from the relation between the nucleon and N*(1535) systems, the N*(1535) valence quark wave function is determined without the addition of any parameters. The model is then used to calculate the {gamma}N {yields} N*(1535) transition form factors. A very interesting, useful relation between the A{sub 1/2} and S{sub 1/2} helicity amplitudes for Q{sup 2} > GeV{sup 2}, is also derived.

  5. Localizing chronic Q fever: a challenging query

    PubMed Central

    2013-01-01

    Background Chronic Q fever usually presents as endocarditis or endovascular infection. We investigated whether 18F-FDG PET/CT and echocardiography were able to detect the localization of infection. Also, the utility of the modified Duke criteria was assessed. Methods Fifty-two patients, who had an IgG titre of ≥ 1024 against C. burnetii phase I ≥ 3 months after primary infection or a positive PCR ≥ 1 month after primary infection, were retrospectively included. Data on serology, the results of all imaging studies, possible risk factors for developing proven chronic Q fever and clinical outcome were recorded. Results According to the Dutch consensus on Q fever diagnostics, 18 patients had proven chronic Q fever, 14 probable chronic Q fever, and 20 possible chronic Q fever. Of the patients with proven chronic Q fever, 22% were diagnosed with endocarditis, 17% with an infected vascular prosthesis, and 39% with a mycotic aneurysm. 56% of patients with proven chronic Q fever did not recall an episode of acute Q fever. Ten out of 13 18F-FDG PET/CT-scans in patients with proven chronic Q fever localized the infection. TTE and TEE were helpful in only 6% and 50% of patients, respectively. Conclusions If chronic Q fever is diagnosed, 18F-FDG PET/CT is a helpful imaging technique for localization of vascular infections due to chronic Q fever. Patients with proven chronic Q fever were diagnosed significantly more often with mycotic aneurysms than in previous case series. Definite endocarditis due to chronic Q fever was less frequently diagnosed in the current study. Chronic Q fever often occurs in patients without a known episode of acute Q fever, so clinical suspicion should remain high, especially in endemic regions. PMID:24004470

  6. Density of states, Potts zeros, and Fisher zeros of the Q

    SciTech Connect

    Kim, Seung-Yeon; Creswick, Richard J.

    2001-06-01

    The Q-state Potts model can be extended to noninteger and even complex Q by expressing the partition function in the Fortuin-Kasteleyn (F-K) representation. In the F-K representation the partition function Z(Q,a) is a polynomial in Q and v=a{minus}1 (a=e{sup {beta}J}) and the coefficients of this polynomial, {Phi}(b,c), are the number of graphs on the lattice consisting of b bonds and c connected clusters. We introduce the random-cluster transfer matrix to compute {Phi}(b,c) exactly on finite square lattices with several types of boundary conditions. Given the F-K representation of the partition function we begin by studying the critical Potts model Z{submore » CP}=Z(Q,a{sub c}(Q)), where a{sub c}(Q)=1+{radical}Q. We find a set of zeros in the complex w={radical}Q plane that map to (or close to) the Beraha numbers for real positive Q. We also identify {tilde Q}{sub c}(L), the value of Q for a lattice of width L above which the locus of zeros in the complex p=v/{radical}Q plane lies on the unit circle. By finite-size scaling we find that 1/{tilde Q}{sub c}(L){r_arrow}0 as L{r_arrow}{infinity}. We then study zeros of the antiferromagnetic (AF) Potts model in the complex Q plane and determine Q{sub c}(a), the largest value of Q for a fixed value of a below which there is AF order. We find excellent agreement with Baxter{close_quote}s conjecture Q{sub c}{sup AF}(a)=(1{minus}a)(a+3). We also investigate the locus of zeros of the ferromagnetic Potts model in the complex Q plane and confirm that Q{sub c}{sup FM}(a)=(a{minus}1){sup 2}. We show that the edge singularity in the complex Q plane approaches Q{sub c} as Q{sub c}(L){similar_to}Q{sub c}+AL{sup {minus}y{sub q}}, and determine the scaling exponent y{sub q} for several values of Q. Finally, by finite-size scaling of the Fisher zeros near the antiferromagnetic critical point we determine the thermal exponent y{sub t} as a function of Q in the range 2{le}Q{le}3. Using data for lattices of size 3{le}L{le}8 we find

  7. Two Cases of Partial Trisomy 4p and Partial Trisomy 14q

    PubMed Central

    Kim, Yeo-Hyang; Kim, Heung-Sik; Ryoo, Nam-Hee

    2013-01-01

    We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems. PMID:23301226

  8. An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.

    PubMed

    Butler, Merlin G; Bittel, Douglas C; Kibiryeva, Nataliya; Cooley, Linda D; Yu, Shihui

    2010-02-01

    We present an infant girl with a de novo interstitial deletion of the chromosome 15q11-q14 region, larger than the typical deletion seen in Prader-Willi syndrome (PWS). She presented with features seen in PWS including hypotonia, a poor suck, feeding problems, and mild micrognathia. She also presented with features not typically seen in PWS such as preauricular ear tags, a high-arched palate, edematous feet, coarctation of the aorta, a PDA, and a bicuspid aortic valve. G-banded chromosome analysis showed a large de novo deletion of the proximal long arm of chromosome 15 confirmed using FISH probes (D15511 and GABRB3). Methylation testing was abnormal and consistent with the diagnosis of PWS. Because of the large appearing deletion by karyotype analysis, an array comparative genomic hybridization (aCGH) was performed. A 12.3 Mb deletion was found which involved the 15q11-q14 region containing approximately 60 protein coding genes. This rare deletion was approximately twice the size of the typical deletion seen in PWS and involved the proximal breakpoint BP1 and the distal breakpoint was located in the 15q14 band between previously recognized breakpoints BP5 and BP6. The deletion extended slightly distal to the AVEN gene including the neighboring CHRM5 gene. There is no evidence that the genes in the 15q14 band are imprinted; therefore, their potential contribution in this patient's expanded PWS phenotype must be a consequence of dosage sensitivity of the genes or due to altered expression of intact neighboring genes from a position effect. Copyright 2010 Wiley-Liss, Inc.

  9. Fine mapping of the human bone morphogenetic protein-4 gene (BMP4) to chromosome 14q22-q23 by in situ hybridization

    SciTech Connect

    Wijngaard, A. van den; Boersma, C.J.C.; Olijve, W.

    Bone morphogenetic protein-4 (BMP-4) is a member of the transforming growth factor-{beta} (TGF-{beta}) superfamily and is involved in morphogenesis and bone cell differentiation. Recombinant BMP-4 can induce ectopic cartilage and bone formation when implanted subcutaneously or intramuscularly in rodents. This ectopic bone formation process resembles the process of bone formation during embryogenesis and fracture healing. A cosmid clone containing the complete human bone morphogenetic protein-4 gene (BMP4) was isolated (details to be published elsewhere) and used as a probe to determine the precise chromosomal localization of the human BMP4 gene. This cosmid clone was labeled with biotin-14-dATP and hybridized inmore » situ to chromosomal preparations of metaphase cells as described previously. In 20 metaphase preparations, an intense and specific fluorescence signal (FITC) was detected on the q arm of chromosome 14. The DAPI-counterstained chromosomes were computer-converted into GTG-like banding patterns, allowing the regional localization of BMP4 within 14q22-q23. 10 refs., 1 fig.« less

  10. An algebraic multigrid method for Q2-Q1 mixed discretizations of the Navier-Stokes equations

    SciTech Connect

    Prokopenko, Andrey; Tuminaro, Raymond S.

    Algebraic multigrid (AMG) preconditioners are considered for discretized systems of partial differential equations (PDEs) where unknowns associated with different physical quantities are not necessarily co-located at mesh points. Speci cally, we investigate a Q 2-Q 1 mixed finite element discretization of the incompressible Navier-Stokes equations where the number of velocity nodes is much greater than the number of pressure nodes. Consequently, some velocity degrees-of-freedom (dofs) are defined at spatial locations where there are no corresponding pressure dofs. Thus, AMG approaches lever- aging this co-located structure are not applicable. This paper instead proposes an automatic AMG coarsening that mimics certain pressure/velocitymore » dof relationships of the Q 2-Q 1 discretization. The main idea is to first automatically define coarse pressures in a somewhat standard AMG fashion and then to carefully (but automatically) choose coarse velocity unknowns so that the spatial location relationship between pressure and velocity dofs resembles that on the nest grid. To define coefficients within the inter-grid transfers, an energy minimization AMG (EMIN-AMG) is utilized. EMIN-AMG is not tied to specific coarsening schemes and grid transfer sparsity patterns, and so it is applicable to the proposed coarsening. Numerical results highlighting solver performance are given on Stokes and incompressible Navier-Stokes problems.« less

  11. An algebraic multigrid method for Q2-Q1 mixed discretizations of the Navier-Stokes equations

    DOE PAGES

    Prokopenko, Andrey; Tuminaro, Raymond S.

    2016-07-01

    Algebraic multigrid (AMG) preconditioners are considered for discretized systems of partial differential equations (PDEs) where unknowns associated with different physical quantities are not necessarily co-located at mesh points. Speci cally, we investigate a Q 2-Q 1 mixed finite element discretization of the incompressible Navier-Stokes equations where the number of velocity nodes is much greater than the number of pressure nodes. Consequently, some velocity degrees-of-freedom (dofs) are defined at spatial locations where there are no corresponding pressure dofs. Thus, AMG approaches lever- aging this co-located structure are not applicable. This paper instead proposes an automatic AMG coarsening that mimics certain pressure/velocitymore » dof relationships of the Q 2-Q 1 discretization. The main idea is to first automatically define coarse pressures in a somewhat standard AMG fashion and then to carefully (but automatically) choose coarse velocity unknowns so that the spatial location relationship between pressure and velocity dofs resembles that on the nest grid. To define coefficients within the inter-grid transfers, an energy minimization AMG (EMIN-AMG) is utilized. EMIN-AMG is not tied to specific coarsening schemes and grid transfer sparsity patterns, and so it is applicable to the proposed coarsening. Numerical results highlighting solver performance are given on Stokes and incompressible Navier-Stokes problems.« less

  12. Coenzyme Q and Mitochondrial Disease

    ERIC Educational Resources Information Center

    Quinzii, Catarina M.; Hirano, Michio

    2010-01-01

    Coenzyme Q[subscript 10] (CoQ[subscript 10]) is an essential electron carrier in the mitochondrial respiratory chain and an important antioxidant. Deficiency of CoQ[subscript 10] is a clinically and molecularly heterogeneous syndrome, which, to date, has been found to be autosomal recessive in inheritance and generally responsive to CoQ[subscript…

  13. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

    PubMed Central

    Schüle, Birgitt; Albalwi, Mohammed; Northrop, Emma; Francis, David I; Rowell, Margaret; Slater, Howard R; Gardner, RJ McKinlay; Francke, Uta

    2005-01-01

    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. PMID:15877813

  14. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.

    PubMed

    Schüle, Birgitt; Albalwi, Mohammed; Northrop, Emma; Francis, David I; Rowell, Margaret; Slater, Howard R; Gardner, R J McKinlay; Francke, Uta

    2005-05-06

    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). 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. 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. 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.

  15. VizieR Online Data Catalog: Kepler planetary candidates. V. 3yr Q1-Q12 (Rowe+, 2015)

    NASA Astrophysics Data System (ADS)

    Rowe, J. F.; Coughlin, J. L.; Antoci, V.; Barclay, T.; Batalha, N. M.; Borucki, W. J.; Burke, C. J.; Bryson, S. T.; Caldwell, D. A.; Campbell, J. R.; Catanzarite, J. H.; Christiansen, J. L.; Cochran, W.; Gilliland, R. L.; Girouard, F. R.; Haas, M. R.; Helminiak, K. G.; Henze, C. E.; Hoffman, K. L.; Howell, S. B.; Huber, D.; Hunter, R. C.; Jang-Condell, H.; Jenkins, J. M.; Klaus, T. C.; Latham, D. W.; Li, J.; Lissauer, J. J.; McCauliff, S. D.; Morris, R. L.; Mullally, F.; Ofir, A.; Quarles, B.; Quintana, E.; Sabale, A.; Seader, S.; Shporer, A.; Smith, J. C.; Steffen, J. H.; Still, M.; Tenenbaum, P.; Thompson, S. E.; Twicken, J. D.; van Laerhoven, C.; Wolfgang, A.; Zamudio, K. A.

    2015-04-01

    We began with the transit-event candidate list from Tenenbaum et al. (2013ApJS..206....5T) based on a wavelet, adaptive matched filter to search 192313 Kepler targets for periodic drops in flux indicative of a transiting planet. Detections are known as Threshold Crossing Events (TCEs). Tenenbaum et al. utilized three years of Kepler photometric observations (Q1-Q12) -the same data span employed by this study based on SOC 8.3 as part of Data Release 21 (Thompson S. E., Christiansen J. L., Jenkins J. M. et al. Kepler (KSCI-19061-001)). (3 data files).

  16. Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.

    PubMed

    Napoli, Eleonora; Tassone, Flora; Wong, Sarah; Angkustsiri, Kathleen; Simon, Tony J; Song, Gyu; Giulivi, Cecilia

    2015-09-18

    The congenital disorder 22q11.2 deletion syndrome (22qDS), characterized by a hemizygous deletion of 1.5-3 Mb on chromosome 22 at locus 11.2, is the most common microdeletion disorder (estimated prevalence of 1 in 4000) and the second risk factor for schizophrenia. Nine of ∼30 genes involved in 22qDS have the potential of disrupting mitochondrial metabolism (COMT, UFD1L, DGCR8, MRPL40, PRODH, SLC25A1, TXNRD2, T10, and ZDHHC8). Deficits in bioenergetics during early postnatal brain development could set the basis for a disrupted neuronal metabolism or synaptic signaling, partly explaining the higher incidence in developmental and behavioral deficits in these individuals. Here, we investigated whether mitochondrial outcomes and metabolites from 22qDS children segregated with the altered dosage of one or several of these mitochondrial genes contributing to 22qDS etiology and/or morbidity. Plasma metabolomics, lymphocytic mitochondrial outcomes, and epigenetics (histone H3 Lys-4 trimethylation and 5-methylcytosine) were evaluated in samples from 11 22qDS children and 13 age- and sex-matched neurotypically developing controls. Metabolite differences between 22qDS children and controls reflected a shift from oxidative phosphorylation to glycolysis (higher lactate/pyruvate ratios) accompanied by an increase in reductive carboxylation of α-ketoglutarate (increased concentrations of 2-hydroxyglutaric acid, cholesterol, and fatty acids). Altered metabolism in 22qDS reflected a critical role for the haploinsufficiency of the mitochondrial citrate transporter SLC25A1, further enhanced by HIF-1α, MYC, and metabolite controls. This comprehensive profiling served to clarify the biochemistry of this disease underlying its broad, complex phenotype. © 2015 by The American Society for Biochemistry and Molecular Biology, Inc.

  17. Organization of the human gene for nucleobindin (NUC) and its chromosomal assignment to 19q13.2-q13.4

    SciTech Connect

    Miura, Keiji; Kurosawa, Yoshikazu; Hirai, Momoki

    1996-06-01

    Nucleobindin (Nuc) was first identified as a secreted protein of 55 kDa that promotes production of DNA-specific antibodies in lupus-prone MRL/lpr mice. Analysis of cDNA that encoded Nuc revealed that the protein is composed of a signal peptide, a DNA-binding site, two calcium-binding motifs (EF-hand motifs), and a leucine zipper. In the present study, we analysed the organization of the human gene for Nuc (NUC). It consists of 13 exons that are distributed in a region of 32 kb. The functional motifs listed above are encoded in corresponding exons. NUC was expressed in all organs examined. Comparison of nucleotide sequencesmore » in the promotre regions between human and mouse NCU genes revealed several conserved sequences. Among them, two Sp1-binding sites and a CCAAT box are of particular interest. The promoter is of the TATA-less type, and transcription starts at multiple sites in both the human and the mouse genes. These features suggest that NUC might normally play a role as a housekeeping gene. NUC was located at human chromosome 19q13.2-q13.4. 25 refs., 4 figs., 1 tab.« less

  18. Myocardial uptake and kinetic properties of technetium-99m-Q3 in dogs

    SciTech Connect

    Gerson, M.C.; Millard, R.W.; McGoron, A.J.

    1994-10-01

    We postulated that {sup 99m}Tc-Q3, a cationic imaging agent, produces myocardial activity related to myocardial blood flow during myocardial ischemia and pharmacologic coronary artery vasodilation, and shows little or no myocardial redistribution over 4 hr after intravenous injection. In six Group 1 dogs, the chest was opened, the left circumflex coronary artery was acutely ligated, and dipyridamole (0.32, 0.56 or 0.84 mg/kg) was infused into the right atrium, followed by 10 mCi of {sup 99m}Tc-Q3. Myocardial blood flow was measured by radiolabeled microspheres. The animals were euthanized and 357 myocardial samples were assayed in a well counter for {sup 99m}Tcmore » activity. One week later, radiolabeled microsphere activity was counted and myocardial blood flow calculated. In nine Group 2 dogs, a variable occluder was placed around the left circumflex coronary artery and an ischemic level of circumflex blood flow was maintained constant over 4 hr as measured by an ultrasonic flow meter. Dipyridamole (0.56 mg/kg) was then infused into the right atrium followed by 10mCi of {sup 99m}Tc-Q3. Gamma camera images were acquired at 5, 15, 30, 60, 120 and 240 min following k{sup 99m}Tc-Q3 injection. Microsphere blood flow and endocardial biopsies (n - 6 dogs) were performed at 30, 60, 120 and 240 min following {sup 99m}TcQ3 injection. 31 refs., 9 figs., 1 tab.« less

  19. Common variants at 12q15 and 12q24 are associated with infant head circumference

    PubMed Central

    Warrington, Nicole M; Kaakinen, Marika; Kreiner-Møller, Eskil; Bradfield, Jonathan P; Freathy, Rachel M; Geller, Frank; Guxens, Mònica; Cousminer, Diana L; Kerkhof, Marjan; Timpson, Nicholas J; Ikram, M Arfan; Beilin, Lawrence J; Bønnelykke, Klaus; Buxton, Jessica L; Charoen, Pimphen; Chawes, Bo Lund Krogsgaard; Eriksson, Johan; Evans, David M; Hofman, Albert; Kemp, John P; Kim, Cecilia E; Klopp, Norman; Lahti, Jari; Lye, Stephen J; McMahon, George; Mentch, Frank D; Müller, Martina; O’Reilly, Paul F; Prokopenko, Inga; Rivadeneira, Fernando; Steegers, Eric A P; Sunyer, Jordi; Tiesler, Carla; Yaghootkar, Hanieh; Breteler, Monique M B; Debette, Stephanie; Fornage, Myriam; Gudnason, Vilmundur; Launer, Lenore J; van der Lugt, Aad; Mosley, Thomas H; Seshadri, Sudha; Smith, Albert V; Vernooij, Meike W; Blakemore, Alexandra IF; Chiavacci, Rosetta M; Feenstra, Bjarke; Fernandez-Benet, Julio; Grant, Struan F A; Hartikainen, Anna-Liisa; van der Heijden, Albert J; Iñiguez, Carmen; Lathrop, Mark; McArdle, Wendy L; Mølgaard, Anne; Newnham, John P; Palmer, Lyle J; Palotie, Aarno; Pouta, Annneli; Ring, Susan M; Sovio, Ulla; Standl, Marie; Uitterlinden, Andre G; Wichmann, H-Erich; Vissing, Nadja Hawwa; DeCarli, Charles; van Duijn, Cornelia M; McCarthy, Mark I; Koppelman, Gerard H.; Estivill, Xavier; Hattersley, Andrew T; Melbye, Mads; Bisgaard, Hans; Pennell, Craig E; Widen, Elisabeth; Hakonarson, Hakon; Smith, George Davey; Heinrich, Joachim; Jarvelin, Marjo-Riitta; Jaddoe, Vincent W V

    2013-01-01

    To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association (GWA) studies (N=10,768 from European ancestry enrolled in pregnancy/birth cohorts) and followed up three lead signals in six replication studies (combined N=19,089). Rs7980687 on chromosome 12q24 (P=8.1×10−9), and rs1042725 on chromosome 12q15 (P=2.8×10−10) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height1, their effects on infant head circumference were largely independent of height (P=3.8×10−7 for rs7980687, P=1.3×10−7 for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P=3.9×10−6). SNPs correlated to the 17q21 signal show genome-wide association with adult intra cranial volume2, Parkinson’s disease and other neurodegenerative diseases3-5, indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life. PMID:22504419

  20. Arik-Coon q-oscillator cat states on the noncommutative complex plane ℂq-1 and their nonclassical properties

    NASA Astrophysics Data System (ADS)

    Fakhri, H.; Sayyah-Fard, M.

    The normalized even and odd q-cat states corresponding to Arik-Coon q-oscillator on the noncommutative complex plane ℂq-1 are constructed as the eigenstates of the lowering operator of a q-deformed su(1, 1) algebra with the left eigenvalues. We present the appropriate noncommutative measures in order to realize the resolution of the identity condition by the even and odd q-cat states. Then, we obtain the q-Bargmann-Fock realizations of the Fock representation of the q-deformed su(1, 1) algebra as well as the inner products of standard states in the q-Bargmann representations of the even and odd subspaces. Also, the Euler’s formula of the q-factorial and the Gaussian integrals based on the noncommutative q-integration are obtained. Violation of the uncertainty relation, photon antibunching effect and sub-Poissonian photon statistics by the even and odd q-cat states are considered in the cases 0 < q < 1 and q > 1.

  1. Hi-Q Rotor - Low Wind Speed Technology

    SciTech Connect

    Todd E. Mills; Judy Tatum

    The project objective was to optimize the performance of the Hi-Q Rotor. Early research funded by the California Energy Commission indicated the design might be advantageous over state-of-the-art turbines for collecting wind energy in low wind conditions. The Hi-Q Rotor is a new kind of rotor targeted for harvesting wind in Class 2, 3, and 4 sites, and has application in areas that are closer to cities, or 'load centers.' An advantage of the Hi-Q Rotor is that the rotor has non-conventional blade tips, producing less turbulence, and is quieter than standard wind turbine blades which is critical to themore » low-wind populated urban sites. Unlike state-of-the-art propeller type blades, the Hi-Q Rotor has six blades connected by end caps. In this phase of the research funded by DOE's Inventions and Innovation Program, the goal was to improve the current design by building a series of theoretical and numeric models, and composite prototypes to determine a best of class device. Development of the rotor was performed by aeronautical engineering and design firm, DARcorporation. From this investigation, an optimized design was determined and an 8-foot diameter, full-scale rotor was built and mounted using a Bergey LX-1 generator and furling system which were adapted to support the rotor. The Hi-Q Rotor was then tested side-by-side against the state-of-the-art Bergey XL-1 at the Alternative Energy Institute's Wind Test Center at West Texas State University for six weeks, and real time measurements of power generated were collected and compared. Early wind tunnel testing showed that the cut-in-speed of the Hi-Q rotor is much lower than a conventional tested HAWT enabling the Hi-Q Wind Turbine to begin collecting energy before a conventional HAWT has started spinning. Also, torque at low wind speeds for the Hi-Q Wind Turbine is higher than the tested conventional HAWT and enabled the wind turbine to generate power at lower wind speeds. Based on the data collected, the

  2. Multi-Billion Shot, High-Fluence Exposure of Cr(4+): YAG Passive Q-Switch

    NASA Technical Reports Server (NTRS)

    Stephen, Mark A.; Dallas, Joseph L.; Afzal, Robert S.

    1997-01-01

    NASA's Goddard Space Flight Center is developing the Geoscience Laser Altimeter System (GLAS) employing a diode pumped, Q-Switched, ND:YAG laser operating at 40 Hz repetition rate. To meet the five-year mission lifetime goal, a single transmitter would accumulate over 6.3 billion shots. Cr(4+):YAG is a promising candidate material for passively Q-switching the laser. Historically, the performance of saturable absorbers has degraded over long-duration usage. To measure the multi-billion shot performance of Cr(4+):YAG, a passively Q-switched GLAS-like oscillator was tested at an accelerated repetition rate of 500 Hz. The intracavity fluence was calculated to be approximately 2.5 J/cm(exp 2). The laser was monitored autonomously for 165 days. There was no evidence of change in the material optical properties during the 7.2 billion shot test.. All observed changes in laser operation could be attributed to pump laser diode aging. This is the first demonstration of multi-billion shot exposure testing of Cr(4+):YAG in this pulse energy regime

  3. Novel Lipid-Free Nanoformulation for Improving Oral Bioavailability of Coenzyme Q10

    PubMed Central

    Zhou, Huafeng; Liu, Guoqing; Zhang, Jing; Sun, Ning; Duan, Mingxing; Yan, Zemin; Xia, Qiang

    2014-01-01

    To improve the bioavailability of orally administered lipophilic coenzyme Q10 (CoQ10), we formulated a novel lipid-free nano-CoQ10 system stabilized by various surfactants. Nano-CoQ10s, composed of 2.5% (w/w) CoQ10, 1.67% (w/w) surfactant, and 41.67% (w/w) glycerol, were prepared by hot high-pressure homogenization. The resulting formulations were characterized by particle size, zeta potential, differential scanning calorimetry, and cryogenic transmission electron microscopy. We found that the mean particle size of all nano-CoQ10s ranged from 66.3 ± 1.5 nm to 92.7 ± 1.5 nm and the zeta potential ranged from −12.8 ± 1.4 mV to −41.6 ± 1.4 mV. The CoQ10 in nano-CoQ10s likely existed in a supercooled state, and nano-CoQ10s stored in a brown sealed bottle were stable for 180 days at 25°C. The bioavailability of CoQ10 was evaluated following oral administration of CoQ10 formulations in Sprague-Dawley rats. Compared to the values observed following administration of CoQ10-Suspension, nano-CoQ10 modified with various surfactants significantly increased the maximum plasma concentration and the area under the plasma concentration-time curve. Thus, the lipid-free system of a nano-CoQ10 stabilized with a surfactant may be an effective vehicle for improving oral bioavailability of CoQ10. PMID:24995328

  4. Mapping of a gene for long QT syndrome to chromosome 4q25-27

    SciTech Connect

    Schott, J.J.; Charpentier, F.; Peltier, S.

    1995-11-01

    Long QT syndrome (LQTS) is a heterogeneous inherited disorder causing syncope and sudden death from ventricular arrhythmias. A first locus for this disorder was mapped to chromosome 11p15.5. However, locus heterogeneity has been demonstrated in several families, and two other loci have recently been located on chromosomes 7q35-36 and 3p21-24. We used linkage analysis to map the locus in a 65-member family in which LQTS was associated with more marked sinus bradycardia than usual, leading to sinus node dysfunction. Linkage to chromosome 11p15.5, 7q35-36, or 3p21-24 was excluded. Positive linkage was obtained for markers located on chromosome 4q25-27. A maximalmore » LOD score of 7.05 was found for marker D4S402. The identification of a fourth locus for LQTS confirms its genetic heterogeneity. Locus 4q25-27 is associated with a peculiar phenotype within the LQTS entity. 42 refs., 4 figs., 3 tabs.« less

  5. Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome

    PubMed Central

    Butcher, Nancy J.; Kiehl, Tim-Rasmus; Hazrati, Lili-Naz; Chow, Eva W. C.; Rogaeva, Ekaterina; Lang, Anthony E.; Bassett, Anne S.

    2015-01-01

    IMPORTANCE Clinical case reports of parkinsonism co-occurring with hemizygous 22q11.2 deletions and the associated multisystem syndrome, 22q11.2 deletion syndrome (22q11.2DS), suggest that 22q11.2 deletions may lead to increased risk of early-onset Parkinson disease (PD). The frequency of PD and its neuropathological presentation remain unknown in this common genetic condition. OBJECTIVE To evaluate a possible association between 22q11.2 deletions and PD. DESIGN, SETTING, AND PARTICIPANTS An observational study of the occurrence of PD in the world’s largest cohort of well-characterized adults with a molecularly confirmed diagnosis of 22q11.2DS (n = 159 [6 with postmortem tissue]; age range, 18.1–68.6 years) was conducted in Toronto, Ontario, Canada. Rare postmortem brain tissue from individuals with 22q11.2DS and a clinical history of PD was investigated for neurodegenerative changes and compared with that from individuals with no history of a movement disorder. MAIN OUTCOMES AND MEASURES A clinical diagnosis of PD made by a neurologist and neuropathological features of PD. RESULTS Adults with 22q11.2DS had a significantly elevated occurrence of PD compared with standard population estimates (standardized morbidity ratio = 69.7; 95% CI, 19.0–178.5). All cases showed early onset and typical PD symptom pattern, treatment response, and course. All were negative for family history of PD and known pathogenic PD-related mutations. The common use of antipsychotics in patients with 22q11.2DS to manage associated psychiatric symptoms delayed diagnosis of PD by up to 10 years. Postmortem brain tissue revealed classic loss of midbrain dopaminergic neurons in all 3 postmortem 22q11.2DS-PD cases. Typical α-synuclein–positive Lewy bodies were present in the expected distribution in 2 cases but absent in another. CONCLUSIONS AND RELEVANCE These findings suggest that 22q11.2 deletions represent a novel genetic risk factor for early-onset PD with variable neuropathological

  6. Emergence of Q fever

    PubMed Central

    Angelakis, E; Raoult, D

    2011-01-01

    Q fever is a worldwide zoonosis with many acute and chronic manifestations caused by the pathogen Coxiella burnetii. Farm animals and pets are the main reservoirs of infection, and transmission to human beings is mainly accomplished through inhalation of contaminated aerosols. Persons at greatest risk are those in contact with farm animals and include farmers, abattoir workers, and veterinarians. The organs most commonly affected during Q fever are the heart, the arteries, the bones and the liver. The most common clinical presentation is an influenza-like illness with varying degrees of pneumonia and hepatitis. Although acute disease is usually self-limiting, people do occasionally die from this condition. Endocarditis is the most serious and most frequent clinical presentation of chronic Q fever. Vascular infection is the second most frequent presentation of Q fever. The diagnosis of Q fever is based on a significant increase in serum antibody titers. The treatment is effective and well tolerated, but must be adapted to the acute or chronic pattern with the tetracyclines to be considered the mainstay of antibiotic therapy. For the treatment of Q fever during pregnancy the use of long-term cotrimoxazole therapy is proposed. PMID:23113081

  7. Antiphospholipid Antibody Syndrome With Valvular Vegetations in Acute Q Fever.

    PubMed

    Million, Matthieu; Thuny, Franck; Bardin, Nathalie; Angelakis, Emmanouil; Edouard, Sophie; Bessis, Simon; Guimard, Thomas; Weitten, Thierry; Martin-Barbaz, François; Texereau, Michèle; Ayouz, Khelifa; Protopopescu, Camelia; Carrieri, Patrizia; Habib, Gilbert; Raoult, Didier

    2016-03-01

    Coxiella burnetii endocarditis is considered to be a late complication of Q fever in patients with preexisting valvular heart disease (VHD). We observed a large transient aortic vegetation in a patient with acute Q fever and high levels of IgG anticardiolipin antibodies (IgG aCL). Therefore, we sought to determine how commonly acute Q fever could cause valvular vegetations associated with antiphospholipid antibody syndrome, which would be a new clinical entity. We performed a consecutive case series between January 2007 and April 2014 at the French National Referral Center for Q fever. Age, sex, history of VHD, immunosuppression, and IgG aCL assessed by enzyme-linked immunosorbent assay were tested as potential predictors. Of the 759 patients with acute Q fever and available echocardiographic results, 9 (1.2%) were considered to have acute Q fever endocarditis, none of whom had a previously known VHD. After multiple adjustment, very high IgG aCL levels (>100 immunoglobulin G-type phospholipid units; relative risk [RR], 24.9 [95% confidence interval {CI}, 4.5-140.2]; P = .002) and immunosuppression (RR, 10.1 [95% CI, 3.0-32.4]; P = .002) were independently associated with acute Q fever endocarditis. Antiphospholipid antibody syndrome with valvular vegetations in acute Q fever is a new clinical entity. This would suggest the value of systematically testing for C. burnetii in antiphospholipid-associated cardiac valve disease, and performing early echocardiography and antiphospholipid dosages in patients with acute Q fever. © The Author 2015. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.

  8. Ocular Findings in Children With 22q11.2 Deletion Syndrome.

    PubMed

    Gokturk, Bahar; Topcu-Yilmaz, Pinar; Bozkurt, Banu; Yildirim, Mahmut Selman; Guner, Sukru Nail; Sayar, Esra Hazar; Reisli, Ismail

    2016-07-01

    To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities. Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11.2 underwent a detailed ophthalmological examination including uncorrected and best corrected visual acuity testing, stereoscopic vision examination, biomicroscopic and indirect fundus examination, and ocular motility testing. All patients had at least one ocular abnormality. The major abnormalities were eyelid abnormalities (eye hooding, narrow palpebral fissure, telecanthus, hypertelorism, sparse and thin eyebrows and eyelashes, blepharitis, and distichiasis), posterior embryotoxon, and tortuous retinal vessels in at least half of the patients. Other ophthalmological disorders were refractive errors, iris remnants, and strabismus. The chromosome 22q11.2 deletion syndrome is associated with a wide range of ocular disorders, which necessitates a comprehensive eye examination for appropriate treatment and follow-up. Ocular findings sometimes can provide a clue to the diagnosis of 22q11.2 deletion. [J Pediatr Ophthalmol Strabismus. 2016;53(4):218-222]. Copyright 2016, SLACK Incorporated.

  9. Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.

    PubMed

    Hoppman-Chaney, N; Wain, K; Seger, P R; Superneau, D W; Hodge, J C

    2013-04-01

    The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, seizures, autism, and psychiatric conditions. This deletion is inherited in approximately 75% of cases and has been found in mildly affected and normal parents, consistent with variable expressivity and incomplete penetrance. The common deletion is approximately 2 Mb and contains several genes; however, the gene(s) responsible for the resulting clinical features have not been clearly defined. Recently, four probands were reported with small deletions including only the CHRNA7 gene. These patients showed a wide range of phenotypic features similar to those associated with the larger 15q13.3 microdeletion. To further correlate genotype and phenotype, we queried our database of >15,000 patients tested in the Mayo Clinic Cytogenetics Laboratory from 2008 to 2011 and identified 19 individuals (10 probands and 9 family members) with isolated heterozygous CHRNA7 gene deletions. All but two infants displayed multiple features consistent with 15q13.3 microdeletion syndrome. We also identified the first de novo deletion confined to CHRNA7 as well as the second known case with homozygous deletion of CHRNA7 only. These results provide further evidence implicating CHRNA7 as the gene responsible for the clinical findings associated with 15q13.3 microdeletion. © 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd.

  10. Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.

    PubMed

    McDaniel, Lee D; Conkrite, Karina L; Chang, Xiao; Capasso, Mario; Vaksman, Zalman; Oldridge, Derek A; Zachariou, Anna; Horn, Millicent; Diamond, Maura; Hou, Cuiping; Iolascon, Achille; Hakonarson, Hakon; Rahman, Nazneen; Devoto, Marcella; Diskin, Sharon J

    2017-05-01

    Neuroblastoma is a cancer of the developing sympathetic nervous system that most commonly presents in young children and accounts for approximately 12% of pediatric oncology deaths. Here, we report on a genome-wide association study (GWAS) in a discovery cohort or 2,101 cases and 4,202 controls of European ancestry. We identify two new association signals at 3q25 and 4p16 that replicated robustly in multiple independent cohorts comprising 1,163 cases and 4,396 controls (3q25: rs6441201 combined P = 1.2x10-11, Odds Ratio 1.23, 95% CI:1.16-1.31; 4p16: rs3796727 combined P = 1.26x10-12, Odds Ratio 1.30, 95% CI: 1.21-1.40). The 4p16 signal maps within the carboxypeptidase Z (CPZ) gene. The 3q25 signal resides within the arginine/serine-rich coiled-coil 1 (RSRC1) gene and upstream of the myeloid leukemia factor 1 (MLF1) gene. Increased expression of MLF1 was observed in neuroblastoma cells homozygous for the rs6441201 risk allele (P = 0.02), and significant growth inhibition was observed upon depletion of MLF1 (P < 0.0001) in neuroblastoma cells. Taken together, we show that common DNA variants within CPZ at 4p16 and upstream of MLF1 at 3q25 influence neuroblastoma susceptibility and MLF1 likely plays an important role in neuroblastoma tumorigenesis.

  11. Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma

    PubMed Central

    Capasso, Mario; Vaksman, Zalman; Zachariou, Anna; Horn, Millicent; Diamond, Maura; Hou, Cuiping; Iolascon, Achille; Hakonarson, Hakon; Rahman, Nazneen

    2017-01-01

    Neuroblastoma is a cancer of the developing sympathetic nervous system that most commonly presents in young children and accounts for approximately 12% of pediatric oncology deaths. Here, we report on a genome-wide association study (GWAS) in a discovery cohort or 2,101 cases and 4,202 controls of European ancestry. We identify two new association signals at 3q25 and 4p16 that replicated robustly in multiple independent cohorts comprising 1,163 cases and 4,396 controls (3q25: rs6441201 combined P = 1.2x10-11, Odds Ratio 1.23, 95% CI:1.16–1.31; 4p16: rs3796727 combined P = 1.26x10-12, Odds Ratio 1.30, 95% CI: 1.21–1.40). The 4p16 signal maps within the carboxypeptidase Z (CPZ) gene. The 3q25 signal resides within the arginine/serine-rich coiled-coil 1 (RSRC1) gene and upstream of the myeloid leukemia factor 1 (MLF1) gene. Increased expression of MLF1 was observed in neuroblastoma cells homozygous for the rs6441201 risk allele (P = 0.02), and significant growth inhibition was observed upon depletion of MLF1 (P < 0.0001) in neuroblastoma cells. Taken together, we show that common DNA variants within CPZ at 4p16 and upstream of MLF1 at 3q25 influence neuroblastoma susceptibility and MLF1 likely plays an important role in neuroblastoma tumorigenesis. PMID:28545128

  12. Electro-optic Q-switch

    NASA Technical Reports Server (NTRS)

    Zou, Yingyin (Inventor); Chen, Qiushui (Inventor); Zhang, Run (Inventor); Jiang, Hua (Inventor)

    2006-01-01

    An electro-optic Q-switch for generating sequence of laser pulses was disclosed. The Q-switch comprises a quadratic electro-optic material and is connected with an electronic unit generating a radio frequency wave with positive and negative pulses alternatively. The Q-switch is controlled by the radio frequency wave in such a way that laser pulse is generated when the radio frequency wave changes its polarity.

  13. Application of FISH 7q in MDS patients without monosomy 7 or 7q deletion by conventional G-banding cytogenetics: does -7/7q- detection by FISH have prognostic value?

    PubMed

    Ademà, Vera; Hernández, Jesús María; Abáigar, María; Lumbreras, Eva; Such, Esperanza; Calull, Anna; Dominguez, Esther; Arenillas, Leonor; Mallo, Mar; Cervera, José; Marugán, Isabel; Tormo, Mar; García, Francisca; González, Teresa; Luño, Elisa; Sanzo, Carmen; Martín, María Luisa; Fernández, Manuela; Costa, Dolors; Blázquez, Beatriz; Barreña, Beatriz; Marco, Fernando; Batlle, Ana; Buño, Ismael; Martínez-Laperche, Carolina; Noriega, Víctor; Collado, Rosa; Ivars, David; Carbonell, Félix; Vallcorba, Isabel; Melero, Josefa; Delgado, Elena; Vargas, María Teresa; Grau, Javier; Salido, Marta; Espinet, Blanca; Melero, Carme; Florensa, Lourdes; Pedro, Carmen; Solé, Francesc

    2013-04-01

    Chromosomal abnormalities are detected in 40-60% of patients with de novo myelodysplastic syndromes (MDS). This study used the FISH technique in 773 patients with de novo MDS without evidence of monosomy 7 (-7) or 7q deletion (7q-) by conventional G-banding cytogenetics (CC) to analyze their prognostic impact by FISH alone. FISH detected -7/7q- in 5.2% of patients. Presence of -7/7q- was associated with shorter overall survival than absence of such aberrations. Our results suggest that FISH 7q could be beneficial in patients with intermediate WHO morphologic risk stratification and no evidence of -7/7q- by CC. Copyright © 2012 Elsevier Ltd. All rights reserved.

  14. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

    PubMed Central

    Cine, Naci; Erdemoglu, Mahmut; Atay, Ahmet Engin; Simsek, Selda; Turkyilmaz, Aysegul; Fidanboy, Mehmet

    2013-01-01

    Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH). However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis. PMID:24455347

  15. Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.

    PubMed

    Akbas, Halit; Cine, Naci; Erdemoglu, Mahmut; Atay, Ahmet Engin; Simsek, Selda; Turkyilmaz, Aysegul; Fidanboy, Mehmet

    2013-01-01

    Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH). However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

  16. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

    PubMed

    Helbig, Ingo; Mefford, Heather C; Sharp, Andrew J; Guipponi, Michel; Fichera, Marco; Franke, Andre; Muhle, Hiltrud; de Kovel, Carolien; Baker, Carl; von Spiczak, Sarah; Kron, Katherine L; Steinich, Ines; Kleefuss-Lie, Ailing A; Leu, Costin; Gaus, Verena; Schmitz, Bettina; Klein, Karl M; Reif, Philipp S; Rosenow, Felix; Weber, Yvonne; Lerche, Holger; Zimprich, Fritz; Urak, Lydia; Fuchs, Karoline; Feucht, Martha; Genton, Pierre; Thomas, Pierre; Visscher, Frank; de Haan, Gerrit-Jan; Møller, Rikke S; Hjalgrim, Helle; Luciano, Daniela; Wittig, Michael; Nothnagel, Michael; Elger, Christian E; Nürnberg, Peter; Romano, Corrado; Malafosse, Alain; Koeleman, Bobby P C; Lindhout, Dick; Stephani, Ulrich; Schreiber, Stefan; Eichler, Evan E; Sander, Thomas

    2009-02-01

    We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8)). Most deletion carriers showed common IGE syndromes without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia. Our results indicate that 15q13.3 microdeletions constitute the most prevalent risk factor for common epilepsies identified to date.

  17. Common variants at 12q15 and 12q24 are associated with infant head circumference.

    PubMed

    Taal, H Rob; Pourcain, Beate St; Thiering, Elisabeth; Das, Shikta; Mook-Kanamori, Dennis O; Warrington, Nicole M; Kaakinen, Marika; Kreiner-Møller, Eskil; Bradfield, Jonathan P; Freathy, Rachel M; Geller, Frank; Guxens, Mònica; Cousminer, Diana L; Kerkhof, Marjan; Timpson, Nicholas J; Ikram, M Arfan; Beilin, Lawrence J; Bønnelykke, Klaus; Buxton, Jessica L; Charoen, Pimphen; Chawes, Bo Lund Krogsgaard; Eriksson, Johan; Evans, David M; Hofman, Albert; Kemp, John P; Kim, Cecilia E; Klopp, Norman; Lahti, Jari; Lye, Stephen J; McMahon, George; Mentch, Frank D; Müller, Martina; O'Reilly, Paul F; Prokopenko, Inga; Rivadeneira, Fernando; Steegers, Eric A P; Sunyer, Jordi; Tiesler, Carla; Yaghootkar, Hanieh; Breteler, Monique M B; Debette, Stephanie; Fornage, Myriam; Gudnason, Vilmundur; Launer, Lenore J; van der Lugt, Aad; Mosley, Thomas H; Seshadri, Sudha; Smith, Albert V; Vernooij, Meike W; Blakemore, Alexandra If; Chiavacci, Rosetta M; Feenstra, Bjarke; Fernandez-Benet, Julio; Grant, Struan F A; Hartikainen, Anna-Liisa; van der Heijden, Albert J; Iñiguez, Carmen; Lathrop, Mark; McArdle, Wendy L; Mølgaard, Anne; Newnham, John P; Palmer, Lyle J; Palotie, Aarno; Pouta, Annneli; Ring, Susan M; Sovio, Ulla; Standl, Marie; Uitterlinden, Andre G; Wichmann, H-Erich; Vissing, Nadja Hawwa; DeCarli, Charles; van Duijn, Cornelia M; McCarthy, Mark I; Koppelman, Gerard H; Estivill, Xavier; Hattersley, Andrew T; Melbye, Mads; Bisgaard, Hans; Pennell, Craig E; Widen, Elisabeth; Hakonarson, Hakon; Smith, George Davey; Heinrich, Joachim; Jarvelin, Marjo-Riitta; Jaddoe, Vincent W V

    2012-04-15

    To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 × 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 × 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height, their effects on infant head circumference were largely independent of height (P = 3.8 × 10(-7) for rs7980687 and P = 1.3 × 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 × 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume, Parkinson's disease and other neurodegenerative diseases, indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.

  18. 31 CFR 30.4 - Q-4: What actions are necessary for a TARP recipient to comply with the standards established...

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 31 Money and Finance: Treasury 1 2013-07-01 2013-07-01 false Q-4: What actions are necessary for a... of the Treasury TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.4 Q-4: What actions are... (a)(2)), (b) and (c) of this § 30.4 (Q-4) shall apply. ...

  19. 31 CFR 30.4 - Q-4: What actions are necessary for a TARP recipient to comply with the standards established...

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 31 Money and Finance: Treasury 1 2012-07-01 2012-07-01 false Q-4: What actions are necessary for a... of the Treasury TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.4 Q-4: What actions are... (a)(2)), (b) and (c) of this § 30.4 (Q-4) shall apply. ...

  20. 31 CFR 30.4 - Q-4: What actions are necessary for a TARP recipient to comply with the standards established...

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 31 Money and Finance: Treasury 1 2014-07-01 2014-07-01 false Q-4: What actions are necessary for a... of the Treasury TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.4 Q-4: What actions are... (a)(2)), (b) and (c) of this § 30.4 (Q-4) shall apply. ...

  1. Molecular profiling reveals frequent gain of MYCN and anaplasia-specific loss of 4q and 14q in Wilms tumor.

    PubMed

    Williams, Richard D; Al-Saadi, Reem; Natrajan, Rachael; Mackay, Alan; Chagtai, Tasnim; Little, Suzanne; Hing, Sandra N; Fenwick, Kerry; Ashworth, Alan; Grundy, Paul; Anderson, James R; Dome, Jeffrey S; Perlman, Elizabeth J; Jones, Chris; Pritchard-Jones, Kathy

    2011-12-01

    Anaplasia in Wilms tumor, a distinctive histology characterized by abnormal mitoses, is associated with poor patient outcome. While anaplastic tumors frequently harbour TP53 mutations, little is otherwise known about their molecular biology. We have used array comparative genomic hybridization (aCGH) and cDNA microarray expression profiling to compare anaplastic and favorable histology Wilms tumors to determine their common and differentiating features. In addition to changes on 17p, consistent with TP53 deletion, recurrent anaplasia-specific genomic loss and under-expression were noted in several other regions, most strikingly 4q and 14q. Further aberrations, including gain of 1q and loss of 16q were common to both histologies. Focal gain of MYCN, initially detected by high resolution aCGH profiling in 6/61 anaplastic samples, was confirmed in a significant proportion of both tumor types by a genomic quantitative PCR survey of over 400 tumors. Overall, these results are consistent with a model where anaplasia, rather than forming an entirely distinct molecular entity, arises from the general continuum of Wilms tumor by the acquisition of additional genomic changes at multiple loci. Copyright © 2011 Wiley Periodicals, Inc.

  2. PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication.

    PubMed

    Dawson, Angelika J; Cox, Janice; Hovanes, Karine; Spriggs, Elizabeth

    2015-01-01

    The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes, autism, and other developmental abnormalities resulting from deletions and duplications. In addition, this region encompasses imprinted genes that cause PWS or AS, depending on the parent-of-origin. This imprinting allows for diagnosis of PWS or AS based on methylation status using methylation sensitive (MS) multiplex ligation dependent probe amplification (MLPA). Maternally derived microduplications at 15q11.2-q13 have been associated with autism and other neuropsychiatric disorders. Multiple methods have been used to determine the parent-of-origin for 15q11.2-q13 microdeletions and microduplications. In the present study, a four-year-old nondysmorphic female patient with developmental delay was found to have a de novo ~5 Mb duplication within 15q11.2 by oligonucleotide genomic array. In order to determine the significance of this microduplication to the clinical phenotype, the parent-of-origin needed to be identified. The PWS/AS MS-MLPA assay is generally used to distinguish between deletion and uniparental disomy (UPD) of 15q11.2-q13, resulting in either PWS or AS. However, our study shows that PWS/AS MS-MLPA can also efficiently distinguish the parental origin of duplications of 15q11.2-q13.

  3. Study of charged—current ep interactions at Q 2>200 GeV2 with the ZEUS detector at HERA

    NASA Astrophysics Data System (ADS)

    Derrick, M.; Krakauer, D.; Magill, S.; Mikunas, D.; Musgrave, B.; Okrasinski, J. R.; Repond, J.; Stanek, R.; Talaga, R. L.; Zhang, H.; Mattingly, M. C. K.; Antonioli, P.; Bari, G.; Basile, M.; Bellagamba, L.; Boscherini, D.; Bruni, A.; Bruni, G.; Bruni, P.; Romeo, G. Cara; Castellini, G.; Cifarelli, L.; Cindolo, F.; Contin, A.; Corradi, M.; Gialas, I.; Giusti, P.; Iacobucci, G.; Laurenti, G.; Levi, G.; Margotti, A.; Massam, T.; Nania, R.; Palmonari, F.; Pesci, A.; Polini, A.; Sartorelli, G.; Garcia, Y. Zamora; Zichichi, A.; Amelung, C.; Bornheim, A.; Crittenden, J.; Deffner, R.; Doeker, T.; Eckert, M.; Feld, L.; Frey, A.; Geerts, M.; Grothe, M.; Hartmann, H.; Heinloth, K.; Heinz, L.; Hilger, E.; Jakob, H.-P.; Katz, U. F.; Mengel, S.; Paul, E.; Pfeiffer, M.; Rembser, Ch.; Schramm, D.; Stamm, J.; Wedemeyer, R.; Campbell-Robson, S.; Cassidy, A.; Cottingham, W. N.; Dyce, N.; Foster, B.; George, S.; Hayes, M. E.; Heath, G. P.; Heath, H. F.; Piccioni, D.; Roff, D. G.; Tapper, R. J.; Yoshida, R.; Arneodo, M.; Ayad, R.; Capua, M.; Garfagnini, A.; Iannotti, L.; Schioppa, M.; Susinno, G.; Caldwell, A.; Cartiglia, N.; Jing, Z.; Liu, W.; Parsons, J. A.; Ritz, S.; Sciulli, F.; Straub, P. B.; Wai, L.; Yang, S.; Zhu, Q.; Borzemski, P.; Chwastowski, J.; Eskreys, A.; Jakubowski, Z.; Przybycień, M. B.; Zachara, M.; Zawiejski, L.; Adamczyk, L.; Bednarek, B.; Jeleń, K.; Kisielewska, D.; Kowalski, T.; Przybycień, M.; Rulikowska-Zarębska, E.; Suszycki, L.; Zając, J.; Duliński, Z.; Kotański, A.; Abbiendi, G.; Bauerdick, L. A. T.; Behrens, U.; Beier, H.; Bienlein, J. K.; Cases, G.; Deppe, O.; Desler, K.; Drews, G.; Flasiński, M.; Gilkinson, D. J.; Glasman, C.; Göttlicher, P.; Große-Knetter, J.; Haas, T.; Hain, W.; Hasell, D.; Heßling, H.; Iga, Y.; Johnson, K. F.; Joos, P.; Kasemann, M.; Klanner, R.; Koch, W.; Kötz, U.; Kowalski, H.; Labs, J.; Ladage, A.; Löhr, B.; Löwe, M.; Lüke, D.; Mainusch, J.; Mańczak, O.; Milewski, J.; Monteiro, T.; Ng, J. S. T.; Notz, D.; Ohrenberg, K.; Piotrzkowski, K.; Roco, M.; Rohde, M.; Roldán, J.; Schneekloth, U.; Schulz, W.; Selonke, F.; Surrow, B.; Tassi, E.; Voß, T.; Westphal, D.; Wolf, G.; Wollmer, U.; Youngman, C.; Zeuner, W.; Grabosch, H. J.; Kharchilava, A.; Mari, S. M.; Meyer, A.; Schlenstedt, S.; Wulff, N.; Barbagli, G.; Gallo, E.; Pelfer, P.; Maccarrone, G.; de Pasquale, S.; Votano, L.; Bamberger, A.; Eisenhardt, S.; Trefzger, T.; Wölfle, S.; Bromley, J. T.; Brook, N. H.; Bussey, P. J.; Doyle, A. T.; Saxon, D. H.; Sinclair, L. E.; Utley, M. L.; Wilson, A. S.; Dannemann, A.; Holm, U.; Horstmann, D.; Sinkus, R.; Wick, K.; Burow, B. D.; Hagge, L.; Lohrmann, E.; Poelz, G.; Schott, W.; Zetsche, F.; Bacon, T. C.; Brümmer, N.; Butterworth, I.; Harris, V. L.; Howell, G.; Hung, B. H. Y.; Lamberti, L.; Long, K. R.; Miller, D. B.; Pavel, N.; Prinias, A.; Sedgbeer, J. K.; Sideris, D.; Whitfield, A. F.; Mallik, U.; Wang, M. Z.; Wang, S. M.; Wu, J. T.; Cloth, P.; Filges, D.; An, S. H.; Cho, G. H.; Ko, B. J.; Lee, S. B.; Nam, S. W.; Park, H. S.; Park, S. K.; Kartik, S.; Kim, H.-J.; McNeil, R. R.; Metcalf, W.; Nadendla, V. K.; Barreiro, F.; Fernandez, J. P.; Graciani, R.; Hernández, J. M.; Hervás, L.; Labarga, L.; Martinez, M.; Del Peso, J.; Puga, J.; Terron, J.; de Trocóniz, J. F.; Corriveau, F.; Hanna, D. S.; Hartmann, J.; Hung, L. W.; Lim, J. N.; Matthews, C. G.; Patel, P. M.; Riveline, M.; Stairs, D. G.; St-Laurent, M.; Ullmann, R.; Zacek, G.; Tsurugai, T.; Bashkirov, V.; Dolgoshein, B. A.; Stifutkin, A.; Bashindzhagyan, G. L.; Ermolov, P. F.; Gladilin, L. K.; Golubkov, Yu. A.; Kobrin, V. D.; Korzhavina, I. A.; Kuzmin, V. A.; Lukina, O. Yu.; Proskuryakov, A. S.; Savin, A. A.; Shcheglova, L. M.; Solomin, A. N.; Zotov, N. P.; Botje, M.; Chlebana, F.; Engelen, J.; de Kamps, M.; Kooijman, P.; Kruse, A.; van Sighem, A.; Tiecke, H.; Verkerke, W.; Vossebeld, J.; Vreeswijk, M.; Wiggers, L.; de Wolf, E.; van Woudenberg, R.; Acosta, D.; Bylsma, B.; Durkin, L. S.; Gilmore, J.; Li, C.; Ling, T. Y.; Nylander, P.; Park, I. H.; Romanowski, T. A.; Bailey, D. S.; Cashmore, R. J.; Cooper-Sarkar, A. M.; Devenish, R. C. E.; Harnew, N.; Lancaster, M.; Lindemann, L.; McFall, J. D.; Nath, C.; Noyes, V. A.; Quadt, A.; Tickner, J. R.; Uijterwaal, H.; Walczak, R.; Waters, D. S.; Wilson, F. F.; Yip, T.; Bertolin, A.; Brugnera, R.; Carlin, R.; Dal Corso, F.; de Giorgi, M.; Dosselli, U.; Limentani, S.; Morandin, M.; Posocco, M.; Stanco, L.; Stroili, R.; Voci, C.; Zuin, F.; Bulmahn, J.; Feild, R. G.; Oh, B. Y.; Whitmore, J. J.; D'Agostini, G.; Marini, G.; Nigro, A.; Hart, J. C.; McCubbin, N. A.; Shah, T. P.; Barberis, E.; Dubbs, T.; Heusch, C.; van Hook, M.; Lockman, W.; Rahn, J. T.; Sadrozinski, H. F.-W.; Seiden, A.; Williams, D. C.; Biltzinger, J.; Seifert, R. J.; Schwarzer, O.; Walenta, A. H.; Abramowicz, H.; Briskin, G.; Dagan, S.; Levy, A.; Fleck, J. I.; Inuzuka, M.; Ishii, T.; Kuze, M.; Mine, S.; Nakao, M.; Suzuki, I.; Tokushuku, K.; Umemori, K.; Yamada, S.; Yamazaki, Y.; Chiba, M.; Hamatsu, R.; Hirose, T.; Homma, K.; Kitamura, S.; Matsushita, T.; Yamauchi, K.; Cirio, R.; Costa, M.; Ferrero, M. I.; Maselli, S.; Peroni, C.; Sacchi, R.; Solano, A.; Staiano, A.; Dardo, M.; Bailey, D. C.; Benard, F.; Brkic, M.; Fagerstroem, C.-P.; Hartner, G. F.; Joo, K. K.; Levman, G. M.; Martin, J. F.; Orr, R. S.; Polenz, S.; Sampson, C. R.; Simmons, D.; Teuscher, R. J.; Butterworth, J. M.; Catterall, C. D.; Jones, T. W.; Kaziewicz, P. B.; Lane, J. B.; Saunders, R. L.; Shulman, J.; Sutton, M. R.; Lu, B.; Mo, L. W.; Bogusz, W.; Ciborowski, J.; Gajewski, J.; Grzelak, G.; Kasprzak, M.; Krzyżanowski, M.; Muchorowski, K.; Nowak, R. J.; Pawlak, J. M.; Tymieniecka, T.; Wróblewski, A. K.; Zakrzewski, J. A.; Żarnecki, A. F.; Adamus, M.; Coldewey, C.; Eisenberg, Y.; Hochman, D.; Karshon, U.; Revel, D.; Zer-Zion, D.; Badgett, W. F.; Breitweg, J.; Chapin, D.; Cross, R.; Dasu, S.; Foudas, C.; Loveless, R. J.; Mattingly, S.; Reeder, D. D.; Silverstein, S.; Smith, W. H.; Vaiciulis, A.; Wodarczyk, M.; Bhadra, S.; Cardy, M. L.; Frisken, W. R.; Khakzad, M.; Murray, W. N.; Schmidke, W. B.

    1996-12-01

    Deep inelastic charged-current reactions have been studied in e + p and e - p collisions at a center of mass energy of about 300GeV in the kinematic region Q 2>200GeV2 and x>0.006 using the ZEUS detector at HERA. The integrated cross sections for Q 2>200GeV2 are found to be σ _{e^ + p to bar ν X} = 30.3_{ - 4.2 - 2.6}^{ + 5.5 + 1.6} pb and σ _{e^ - p to ν X} = 54.7_{ - 9.8 - 3.4}^{ + 15.9 + 2.8} pb . Differential cross sections have been measured as functions of the variables x, y and Q 2. From the measured differential cross sections dσ/dQ 2, the W boson mass is determined to be M_W = 79_{ - 7 - 4}^{ + 8 + 4} GeV . Measured jet rates and transverse energy profiles agree with model predictions. A search for charged-current interactions with a large rapidity gap yielded one candidate event, corresponding to a cross section of σ _{e^ + p to bar ν X} (Q^2 > 200 GeV^2 ; η _{max }< 2.5) = 0.8_{ - 0.7}^{ + 1.8} ± 0.1 pb

  4. Teaching Quantum Mechanics with qCraft: qCraft in Action

    NASA Astrophysics Data System (ADS)

    Chatwin-Davies, Aidan; Kubica, Aleksander; Michalakis, Spyridon

    In this second talk, we delve further into qCraft, which is an extension, or ``mod,'' of the popular video game Minecraft. We explain how quantum-mechanical phenomena-such as superposition, observer-dependency, and entanglement-are implemented in qCraft. We finish with a short demo and share our experiences with its use in primary school and high school classrooms.

  5. Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

    PubMed

    Manolakos, E; Vetro, A; Papadopoulou, E; Kefalas, K; Lagou, M; Thomaidis, L; Peitsidis, P; Sifakis, S; Divane, A; Ziegler, M; Liehr, T; Zuffardi, O; Papoulidis, I

    2013-01-01

    We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from his father having a balanced paracentric inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1. Copyright © 2013 S. Karger AG, Basel.

  6. Characterization of biochemical properties of Bacillus subtilis RecQ helicase.

    PubMed

    Qin, Wei; Liu, Na-Nv; Wang, Lijun; Zhou, Min; Ren, Hua; Bugnard, Elisabeth; Liu, Jie-Lin; Zhang, Lin-Hu; Vendôme, Jeremie; Hu, Jin-Shan; Xi, Xu Guang

    2014-12-01

    RecQ family helicases function as safeguards of the genome. Unlike Escherichia coli, the Gram-positive Bacillus subtilis bacterium possesses two RecQ-like homologues, RecQ[Bs] and RecS, which are required for the repair of DNA double-strand breaks. RecQ[Bs] also binds to the forked DNA to ensure a smooth progression of the cell cycle. Here we present the first biochemical analysis of recombinant RecQ[Bs]. RecQ[Bs] binds weakly to single-stranded DNA (ssDNA) and blunt-ended double-stranded DNA (dsDNA) but strongly to forked dsDNA. The protein exhibits a DNA-stimulated ATPase activity and ATP- and Mg(2+)-dependent DNA helicase activity with a 3' → 5' polarity. Molecular modeling shows that RecQ[Bs] shares high sequence and structure similarity with E. coli RecQ. Surprisingly, RecQ[Bs] resembles the truncated Saccharomyces cerevisiae Sgs1 and human RecQ helicases more than RecQ[Ec] with regard to its enzymatic activities. Specifically, RecQ[Bs] unwinds forked dsDNA and DNA duplexes with a 3'-overhang but is inactive on blunt-ended dsDNA and 5'-overhung duplexes. Interestingly, RecQ[Bs] unwinds blunt-ended DNA with structural features, including nicks, gaps, 5'-flaps, Kappa joints, synthetic replication forks, and Holliday junctions. We discuss these findings in the context of RecQ[Bs]'s possible functions in preserving genomic stability. Copyright © 2014, American Society for Microbiology. All Rights Reserved.

  7. Satellited 4q identified in amniotic fluid cells

    SciTech Connect

    Miller, I.; Hsieh, C.L.; Songster, G.

    Extra material was identified on the distal long arm of a chromosome 4 in an amniotic fluid specimen sampled at 16.6 weeks of gestational age. There was no visible loss of material from chromosome 4, and no evidence for a balanced rearrangement. The primary counseling issue in this case was advanced maternal age. Ultrasound findings were normal, and family history was unremarkable. The identical 4qs chromosome was observed in cells from a paternal peripheral blood specimen and appeared to be an unbalanced rearrangement. This extra material was NOR positive in lymphocytes from the father, but was negative in the fetalmore » amniocytes. Father`s relatives were studied to verify the familial origin of this anomaly. In situ hybridization with both exon and intron sequences of ribosomal DNA demonstrated that ribosomal DNA is present at the terminus of the 4qs chromosome in the fetus, father, and paternal grandmother. This satellited 4q might have been derived from a translocation event that resulted in very little or no loss from the 4q and no specific phenotype. This derivative chromosome 4 has been inherited through at least 3 generations of phenotypically normal individuals. 8 refs., 3 figs.« less

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

    NASA Astrophysics Data System (ADS)

    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.

  9. The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.

    PubMed Central

    Stevanin, G; Cancel, G; Dürr, A; Chneiweiss, H; Dubourg, O; Weissenbach, J; Cann, H M; Agid, Y; Brice, A

    1995-01-01

    SCA3, the gene for spinal cerebellar ataxia 3, was recently mapped to a 15-cM interval between D14S67 and D14S81 on chromosome 14q, by linkage analysis in two families of French ancestry. The SCA3 candidate region has now been refined by linkage analysis with four new microsatellite markers (D14S256, D14S291, D14S280, and AFM343vf1) in the same two families, in which 19 additional individuals were genotyped, and in a third French family. Combined two-point linkage analyses show that the new markers, D14S280 and AFM343vf1, are tightly linked to the SCA3 locus, with maximal lod scores, at recombination fraction, (theta) = .00, of 7.05 and 13.70, respectively. Combined multipoint and recombinant haplotype analyses localize the SCA3 locus to a 3-cM interval flanked by D14S291 and D14S81. The same allele for D14S280 segregates with the disease locus in the three kindreds. This allele is frequent in the French population, however, and linkage disequilibrium is not clearly established. The SCA3 locus remains within the 29-cM region on 14q24.3-q32.2 containing the gene for the Machado-Joseph disease, which is clinically related to the phenotype determined by SCA3, but it cannot yet be concluded that both diseases result from alterations of the same gene. PMID:7825578

  10. Multi-q crystal and magnetic structure in TbMnO3: Evidence for a Soliton-lattice

    NASA Astrophysics Data System (ADS)

    Aliouane, N.; Strempfer, J.; Caliebe, W.

    2005-03-01

    In TbMnO3, Mn-spins order with a sinusoidal antiferromagnetic (AF) propagation wave vector QMn=[0,k+/-q,l] (q˜0.288b^*) at TN(Mn)=41K. The propagation vector QMn varies with temperature on cooling until TLock(Mn) ˜30K, which coincides with a ferroelectric transition. In addition to QMn reflections we find magnetic reflections at 3QMn. Our X-ray measurements show that the magneto-elastic coupling gives rise to a structural modulation at twice the magnetic wavevector (2QMn). Field cooling the sample under a magnetic field oriented along the a-direction with H>9T shows that all magnetic wavevectors for Mn and Tb collapse to a single q structure with Q=[0,1/4,0], an up-up, down-down phase, and coincide with anomalies in the polarization. We argue that the temperature and field dependence of the magnetic and superlattice reflections are consistent with a soliton formalism which predicts a stable commensurate single q=1/4 phase [1]. [1] Kimura et al., PRB 68, 60403(2003).

  11. Sudden emergence of q-regular subgraphs in random graphs

    NASA Astrophysics Data System (ADS)

    Pretti, M.; Weigt, M.

    2006-07-01

    We investigate the computationally hard problem whether a random graph of finite average vertex degree has an extensively large q-regular subgraph, i.e., a subgraph with all vertices having degree equal to q. We reformulate this problem as a constraint-satisfaction problem, and solve it using the cavity method of statistical physics at zero temperature. For q = 3, we find that the first large q-regular subgraphs appear discontinuously at an average vertex degree c3 - reg simeq 3.3546 and contain immediately about 24% of all vertices in the graph. This transition is extremely close to (but different from) the well-known 3-core percolation point c3 - core simeq 3.3509. For q > 3, the q-regular subgraph percolation threshold is found to coincide with that of the q-core.

  12. Constitutional t(5;7)(q11;p15) rearranged to acquire monosomy 7q and trisomy 1q in a patient with myelodysplastic syndrome transforming to acute myelocytic leukemia.

    PubMed

    Ganly, Peter; McDonald, Margaret; Spearing, Ruth; Morris, Christine M

    2004-03-01

    We report the case of a 61-year-old woman who presented with a myelodysplastic syndrome (MDS) and a t(5;7)(q11.2;p15) in her bone marrow cells. Subsequent analysis of phytohemagglutinin-stimulated peripheral blood lymphocytes and cultured skin fibroblasts showed that the translocation was constitutional. Disruption of chromosome bands 5q11.2 and 7p15 has been described recurrently in MDS and acute myelocytic leukemia (AML) and, although the age of onset was not earlier than usual, it is nonetheless possible that genes interrupted by this translocation may been a predisposing factor for her condition. With progression to AML, a further rearrangement of the constitutional der(7)t(5;7) occurred, involving chromosome arm 1q. Fluorescence in situ hybridization (FISH) with whole-chromosome paints showed that the result of the second rearrangement, a t(1;7)(q32.1;q32), was observed, leading to trisomy of the segment 1q32.1 approximately qter and monosomy of the segment 7q32.1 approximately qter. The acquired imbalances, particularly loss of 7q, are commonly associated with MDS/AML and a poor prognosis; however, this patient remained in remission after treatment for more than two years before AML relapse, perhaps because the affected regions fall outside of the critical regions of imbalance.

  13. Characterization of C1q in Teleosts

    PubMed Central

    Hu, Yu-Lan; Pan, Xin-Min; Xiang, Li-Xin; Shao, Jian-Zhong

    2010-01-01

    C1qs are key components of the classical complement pathway. They have been well documented in human and mammals, but little is known about their molecular and functional characteristics in fish. In the present study, full-length cDNAs of c1qA, c1qB, and c1qC from zebrafish (Danio rerio) were cloned, revealing the conservation of their chromosomal synteny and organization between zebrafish and other species. For functional analysis, the globular heads of C1qA (ghA), C1qB (ghB), and C1qC (ghC) were expressed in Escherichia coli as soluble proteins. Hemolytic inhibitory assays showed that hemolytic activity in carp serum can be inhibited significantly by anti-C1qA, -C1qB, and -C1qC of zebrafish, respectively, indicating that C1qA, C1qB, and C1qC are involved in the classical pathway and are conserved functionally from fish to human. Zebrafish C1qs also could specifically bind to heat-aggregated zebrafish IgM, human IgG, and IgM. The involvement of globular head modules in the C1q-dependent classical pathway demonstrates the structural and functional conservation of these molecules in the classical pathway and their IgM or IgG binding sites during evolution. Phylogenetic analysis revealed that c1qA, c1qB, and c1qC may be formed by duplications of a single copy of c1qB and that the C1q family is, evolutionarily, closely related to the Emu family. This study improves current understanding of the evolutionary history of the C1q family and C1q-mediated immunity. PMID:20615881

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

    PubMed

    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 < 0.05). BPI pain severity and interference scores increased with simvastatin therapy (both p < 0.01), irrespective of CoQ10 assignment (p = 0.53 and 0.56). There were no changes in 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

  15. Q-Thruster Breadboard Campaign Project

    NASA Technical Reports Server (NTRS)

    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.

  16. Olanzapine induced Q-Tc shortening.

    PubMed

    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.

  17. Significant in vivo anti-inflammatory activity of Pytren4Q-Mn a superoxide dismutase 2 (SOD2) mimetic scorpiand-like Mn (II) complex.

    PubMed

    Serena, Carolina; Calvo, Enrique; Clares, Mari Paz; Diaz, María Luisa; Chicote, Javier U; Beltrán-Debon, Raúl; Fontova, Ramón; Rodriguez, Alejandro; García-España, Enrique; García-España, Antonio

    2015-01-01

    The clinical use of purified SOD enzymes has strong limitations due to their large molecular size, high production cost and immunogenicity. These limitations could be compensated by using instead synthetic SOD mimetic compounds of low molecular weight. We have recently reported that two SOD mimetic compounds, the Mn(II) complexes of the polyamines Pytren2Q and Pytren4Q, displayed high antioxidant activity in bacteria and yeast. Since frequently molecules with antioxidant properties or free-radical scavengers also have anti-inflammatory properties we have assessed the anti-inflammatory potential of Pytren2Q and Pytren4Q Mn(II) complexes, in cultured macrophages and in a murine model of inflammation, by measuring the degree of protection they could provide against the cellular injury produced by lipopolisacharide, a bacterial endotoxin. In this report we show that the Mn(II) complex of Pytren4Q but not that of Pytren2Q effectively protected human cultured THP-1 macrophages and whole mice from the inflammatory effects produced by LPS. These results obtained with two molecules that are isomers highlight the importance of gathering experimental data from animal models of disease in assessing the potential of candidate molecules. The effective anti-inflammatory activity of the Mn(II) complex of Pytren4Q in addition to its low toxicity, water solubility and ease of production would suggest it is worth taking into consideration for future pharmacological studies.

  18. Structural Insights into HIV Reverse Transcriptase Mutations Q151M and Q151M Complex That Confer Multinucleoside Drug Resistance

    SciTech Connect

    Das, Kalyan; Martinez, Sergio E.; Arnold, Eddy

    HIV-1 reverse transcriptase (RT) is targeted by multiple drugs. RT mutations that confer resistance to nucleoside RT inhibitors (NRTIs) emerge during clinical use. Q151M and four associated mutations, A62V, V75I, F77L, and F116Y, were detected in patients failing therapies with dideoxynucleosides (didanosine [ddI], zalcitabine [ddC]) and/or zidovudine (AZT). The cluster of the five mutations is referred to as the Q151M complex (Q151Mc), and an RT or virus containing Q151Mc exhibits resistance to multiple NRTIs. To understand the structural basis for Q151M and Q151Mc resistance, we systematically determined the crystal structures of the wild-type RT/double-stranded DNA (dsDNA)/dATP (complex I), wild-type RT/dsDNA/ddATPmore » (complex II), Q151M RT/dsDNA/dATP (complex III), Q151Mc RT/dsDNA/dATP (complex IV), and Q151Mc RT/dsDNA/ddATP (complex V) ternary complexes. The structures revealed that the deoxyribose rings of dATP and ddATP have 3'-endo and 3'-exo conformations, respectively. The single mutation Q151M introduces conformational perturbation at the deoxynucleoside triphosphate (dNTP)-binding pocket, and the mutated pocket may exist in multiple conformations. The compensatory set of mutations in Q151Mc, particularly F116Y, restricts the side chain flexibility of M151 and helps restore the DNA polymerization efficiency of the enzyme. The altered dNTP-binding pocket in Q151Mc RT has the Q151-R72 hydrogen bond removed and has a switched conformation for the key conserved residue R72 compared to that in wild-type RT. On the basis of a modeled structure of hepatitis B virus (HBV) polymerase, the residues R72, Y116, M151, and M184 in Q151Mc HIV-1 RT are conserved in wild-type HBV polymerase as residues R41, Y89, M171, and M204, respectively; functionally, both Q151Mc HIV-1 and wild-type HBV are resistant to dideoxynucleoside analogs.« less

  19. Lateral Variations of Lg Coda Q in Southern Mexico

    NASA Astrophysics Data System (ADS)

    Yamamoto, J.; Quintanar, L.; Herrmann, R. B.; Fuentes, C.

    Broad band digital three-component data recorded at UNM, a GEOSCOPE station, were used to estimate Lg coda Q for 34 medium size (3.9 <=mb<= 6.3) earthquakes with travel paths laying in different geological provinces of southern Mexico in an effort to establish the possible existence of geological structures acting as wave guides and/or travel paths of low attenuation between the Pacific coast and the Valley of Mexico. The stacked spectral ratio method proposed by XIE and NUTTLI (1988) was chosen for computing the coda Q. The variation range of Q0 (Q at 1Hz) and the frequency dependence parameter η estimates averaged on the frequency interval of 0.5 to 2Hz for the regions and the three components considered are: i) Guerrero region 173 <=Q0<= 182 and 0.6 <=Q0<= 0.7, ii) Oaxaca region 183 <=Q0<= 198 and 0.6 <=Q0<= 0.8, iii) Michoacan-Jalisco region 187 <=Q0<= 204 and 0.7 <=Q0<= 0.8 and iv) eastern portion of the Transmexican Volcanic Belt (TMVB) 313 <=Q0<= 335 and η = 0.9. The results show a very high coda Q for the TMVB as compared to other regions of southern Mexico. This unexpected result is difficult to reconcile with the geophysical characteristics of the TMVB, e.g., low seismicity, high volcanic activity and high heat flow typical of a highly attenuating (low Q) region. Visual inspection of seismograms indicates that for earthquakes with seismic waves traveling along the TMVB, the amplitude decay of Lg coda is anomalously slow as compared to other earthquakes in southern Mexico. Thus, it seems that the high Q value found does not entirely reflect the attenuation characteristics of the TMVB but it is probably contaminated by a wave-guide effect. This phenomenon produces an enhancement in the time duration of the Lg wave trains travelling along this geological structure. This result is important to establish the role played by the transmission medium in the extremely long duration of ground motion observed during the September 19, 1985 Michoacan earthquake. The

  20. Addressing fluorogenic real-time qPCR inhibition using the novel custom Excel file system 'FocusField2-6GallupqPCRSet-upTool-001' to attain consistently high fidelity qPCR reactions

    PubMed Central

    Ackermann, Mark R.

    2006-01-01

    The purpose of this manuscript is to discuss fluorogenic real-time quantitative polymerase chain reaction (qPCR) inhibition and to introduce/define a novel Microsoft Excel-based file system which provides a way to detect and avoid inhibition, and enables investigators to consistently design dynamically-sound, truly LOG-linear qPCR reactions very quickly. The qPCR problems this invention solves are universal to all qPCR reactions, and it performs all necessary qPCR set-up calculations in about 52 seconds (using a pentium 4 processor) for up to seven qPCR targets and seventy-two samples at a time – calculations that commonly take capable investigators days to finish. We have named this custom Excel-based file system "FocusField2-6GallupqPCRSet-upTool-001" (FF2-6-001 qPCR set-up tool), and are in the process of transforming it into professional qPCR set-up software to be made available in 2007. The current prototype is already fully functional. PMID:17033699

  1. Differentially coherent quadrature-quadrature phase shift keying (Q2PSK)

    NASA Astrophysics Data System (ADS)

    Saha, Debabrata; El-Ghandour, Osama

    The quadrature-quadrature phase-shift-keying (Q2PSK) signaling scheme uses the vertices of a hypercube of dimension four. A generalized Q2PSK signaling format for differentially coherent detection at the receiver is considered. Performance in the presence of additive white Gaussian noise (AWGN) is analyzed. The symbol error rate is found to be approximately twice the symbol error rate in a quaternary DPSK system operating at the same Eb/Nb. However, the bandwidth efficiency of differential Q2PSK is substantially higher than that of quaternary DPSK.

  2. Pulmonary manifestations of Q fever: analysis of 38 patients.

    PubMed

    Kelm, Diana J; White, Darin B; Fadel, Hind J; Ryu, Jay H; Maldonado, Fabien; Baqir, Misbah

    2017-10-01

    Lung involvement in both acute and chronic Q fever is not well described with only a few reported cases of pseudotumor or pulmonary fibrosis in chronic Q fever. The aim of this study was to better understand the pulmonary manifestations of Q fever. We conducted a retrospective cohort study of patients with diagnosis of Q fever at Mayo Clinic Rochester. A total of 69 patients were initially identified between 2001 and 2014. Thirty-eight patients were included in this study as 3 were pediatric patients, 20 did not meet serologic criteria for Q fever, and 8 did not have imaging available at time of initial diagnosis. Descriptive analysis was conducted using JMP software. The median age was 57 years [interquartile range (IQR) 43, 62], 84% from the Midwest, and 13% worked in an occupation involving animals. The most common presentation was fevers (61%). Respiratory symptoms, such as cough, were noted in only 4 patients (11%). Twelve patients (29%) had abnormal imaging studies attributed to Q fever. Three patients (25%) with acute Q fever had findings of consolidation, lymphadenopathy, pleural effusions, and nonspecific pulmonary nodules. Radiographic findings of chronic Q fever were seen in 9 patients (75%) and included consolidation, ground-glass opacities, pleural effusions, lymphadenopathy, pulmonary edema, and lung pseudotumor. Our results demonstrate that pulmonary manifestations are uncommon in Q fever but include cough and consolidation for acute Q fever and radiographic findings of pulmonary edema with pleural effusions, consolidation, and pseudotumor in those with chronic Q fever.

  3. Frequency-constant Q, unity and disorder

    SciTech Connect

    Hargreaves, N.D.

    1995-12-31

    In exploration geophysics we obtain information about the earth by observing its response to different types of applied force. The response can cover the full range of possible Q values (where Q, the quality factor, is a measure of energy dissipation), from close to infinity in the case of deep crustal seismic to close to 0 in the case of many electromagnetic methods. When Q is frequency-constant, however, the various types of response have a common scaling behavior and can be described as being self-affine. The wave-equation then takes on a generalised form, changing from the standard wave-equation at Qmore » = {infinity} to the diffusion equation at Q = 0, via lossy, diffusive, propagation at intermediate Q values. Solutions of this wave-diffusion equation at any particular Q value can be converted to an equivalent set of results for any other Q value. In particular it is possible to convert from diffusive to wave propagation by a mapping from Q < {infinity} to Q = {infinity}. In the context of seismic sounding this is equivalent to applying inverse Q-filtering; in a more general context the mapping integrates different geophysical observations by referencing them to the common result at Q = {infinity}. The self-affinity of the observations for frequency-constant Q is an expression of scale invariance in the fundamental physical properties of the medium of propagation, this being the case whether the mechanism of diffusive propagation is scattering of intrinsic attenuation. Scale invariance, or fractal scaling, is a general property of disordered systems; the assumption of frequency-constant Q not only implies a unity between different geophysical observations, but also suggests that it is the disordered nature of the earth`s sub-surface that is the unifying factor.« less

  4. MitoQ--a mitochondria-targeted antioxidant.

    PubMed

    Tauskela, Joseph S

    2007-06-01

    MitoQ is an orally active antioxidant that has the ability to target mitochondrial dysfunction. The agent is currently under development by Antipodean Pharmaceuticals Inc in phase II clinical trials for Parkinson's disease and liver damage associated with HCV infection. MitoQ has demonstrated encouraging preclinical results in numerous studies in isolated mitochondria, cells and tissues undergoing oxidative stress and apoptotic death. MitoQ aims to not only mimic the role of the endogenous mitochondrial antioxidant coenzyme Q10 (CoQ10), but also to augment substantially the antioxidant capacity of CoQ to supraphysiological levels in a mitochondrial membrane potential-dependent manner. MitoQ represents the first foray into the clinic in an attempt to deliver an antioxidant to an intracellular region that is responsible for the formation of increased levels of potentially deleterious reactive oxygen species. Results from the clinical trials with MitoQ will have important repercussions on the relevance of a mitochondrial-targeted approach.

  5. CheS-Mapper 2.0 for visual validation of (Q)SAR models

    PubMed Central

    2014-01-01

    Background Sound statistical validation is important to evaluate and compare the overall performance of (Q)SAR models. However, classical validation does not support the user in better understanding the properties of the model or the underlying data. Even though, a number of visualization tools for analyzing (Q)SAR information in small molecule datasets exist, integrated visualization methods that allow the investigation of model validation results are still lacking. Results We propose visual validation, as an approach for the graphical inspection of (Q)SAR model validation results. The approach applies the 3D viewer CheS-Mapper, an open-source application for the exploration of small molecules in virtual 3D space. The present work describes the new functionalities in CheS-Mapper 2.0, that facilitate the analysis of (Q)SAR information and allows the visual validation of (Q)SAR models. The tool enables the comparison of model predictions to the actual activity in feature space. The approach is generic: It is model-independent and can handle physico-chemical and structural input features as well as quantitative and qualitative endpoints. Conclusions Visual validation with CheS-Mapper enables analyzing (Q)SAR information in the data and indicates how this information is employed by the (Q)SAR model. It reveals, if the endpoint is modeled too specific or too generic and highlights common properties of misclassified compounds. Moreover, the researcher can use CheS-Mapper to inspect how the (Q)SAR model predicts activity cliffs. The CheS-Mapper software is freely available at http://ches-mapper.org. Graphical abstract Comparing actual and predicted activity values with CheS-Mapper.

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

    PubMed

    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.

  7. Candidate Genes and the Behavioral Phenotype in 22q11.2 Deletion Syndrome

    ERIC Educational Resources Information Center

    Prasad, Sarah E.; Howley, Sarah; Murphy, Kieran C.

    2008-01-01

    There is an overwhelming evidence that children and adults with 22q11.2 deletion syndrome (22q11.2DS) have a characteristic behavioral phenotype. In particular, there is a growing body of evidence that indicates an unequivocal association between 22q11.2DS and schizophrenia, especially in adulthood. Deletion of 22q11.2 is the third highest risk…

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

    PubMed Central

    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) (P<0.001) and showed a range of neurocognitive impairments. Increased risk of psychopathology 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

  9. Requirement for Coenzyme Q in Plasma Membrane Electron Transport

    NASA Astrophysics Data System (ADS)

    Sun, I. L.; Sun, E. E.; Crane, F. L.; Morre, D. J.; Lindgren, A.; Low, H.

    1992-12-01

    Coenzyme Q is required in the electron transport system of rat hepatocyte and human erythrocyte plasma membranes. Extraction of coenzyme Q from the membrane decreases NADH dehydrogenase and NADH:oxygen oxidoreductase activity. Addition of coenzyme Q to the extracted membrane restores the activity. Partial restoration of activity is also found with α-tocopherylquinone, but not with vitamin K_1. Analogs of coenzyme Q inhibit NADH dehydrogenase and oxidase activity and the inhibition is reversed by added coenzyme Q. Ferricyanide reduction by transmembrane electron transport from HeLa cells is inhibited by coenzyme Q analogs and restored with added coenzyme Q10. Reduction of external ferricyanide and diferric transferrin by HeLa cells is accompanied by proton release from the cells. Inhibition of the reduction by coenzyme Q analogs also inhibits the proton release, and coenzyme Q10 restores the proton release activity. Trans-plasma membrane electron transport stimulates growth of serum-deficient cells, and added coenzyme Q10 increases growth of HeLa (human adenocarcinoma) and BALB/3T3 (mouse fibroblast) cells. The evidence is consistent with a function for coenzyme Q in a trans-plasma membrane electron transport system which influences cell growth.

  10. [22q11.2DS Syndrome as a Genetic Subtype of Schizophrenia].

    PubMed

    Huertas-Rodríguez, Cindy Katherin; Payán-Gómez, César; Forero-Castro, Ruth Maribel

    2015-01-01

    The 22q11.2 deletion syndrome (22q11.2DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%. To describe the generalities of 22q11.2DS syndrome as a genetic subtype of schizophrenia, its clinical characteristics, molecular genetic aspects, and frequency in different populations. A review was performed from 1967 to 2013 in scientific databases, compiling articles about 22q11.2DS syndrome and its association with schizophrenia. The 22q11.2 DS syndrome has a variable phenotype associated with other genetic syndromes, birth defects in many tissues and organs, and a high rate of psychiatric disorders, particularly schizophrenia. Likewise, it has been identified in clinical populations with schizophrenia selected by the presence of common syndromic characteristics. FISH, qPCR and MLPA techniques, and recently, aCGH and NGS technologies, are being used to diagnose this microdeletion. It is important in clinical practice to remember that people suffering the 22q11.2DS have a high genetic risk for developing schizophrenia, and it is considered that the simultaneous presence of this disease and 22q11.2DS represents a genetic subtype of schizophrenia. There are clear phenotypic criteria, molecular and cytogenetic methods to diagnose this group of patients, and to optimize a multidisciplinary approach in their monitoring. Copyright © 2014 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  11. The tracking analysis in the Q-weak experiment

    NASA Astrophysics Data System (ADS)

    Pan, J.; Androic, D.; Armstrong, D. S.; Asaturyan, A.; Averett, T.; Balewski, J.; Beaufait, J.; Beminiwattha, R. S.; Benesch, J.; Benmokhtar, F.; Birchall, J.; Carlini, R. D.; Cates, G. D.; Cornejo, J. C.; Covrig, S.; Dalton, M. M.; Davis, C. A.; Deconinck, W.; Diefenbach, J.; Dowd, J. F.; Dunne, J. A.; Dutta, D.; Duvall, W. S.; Elaasar, M.; Falk, W. R.; Finn, J. M.; Forest, T.; Gaskell, D.; Gericke, M. T. W.; Grames, J.; Gray, V. M.; Grimm, K.; Guo, F.; Hoskins, J. R.; Johnston, K.; Jones, D.; Jones, M.; Jones, R.; Kargiantoulakis, M.; King, P. M.; Korkmaz, E.; Kowalski, S.; Leacock, J.; Leckey, J.; Lee, A. R.; Lee, J. H.; Lee, L.; MacEwan, S.; Mack, D.; Magee, J. A.; Mahurin, R.; Mammei, J.; Martin, J. W.; McHugh, M. J.; Meekins, D.; Mei, J.; Michaels, R.; Micherdzinska, A.; Mkrtchyan, A.; Mkrtchyan, H.; Morgan, N.; Myers, K. E.; Narayan, A.; Ndukum, L. Z.; Nelyubin, V.; Nuruzzaman; van Oers, W. T. H.; Opper, A. K.; Page, S. A.; Pan, J.; Paschke, K. D.; Phillips, S. K.; Pitt, M. L.; Poelker, M.; Rajotte, J. F.; Ramsay, W. D.; Roche, J.; Sawatzky, B.; Seva, T.; Shabestari, M. H.; Silwal, R.; Simicevic, N.; Smith, G. R.; Solvignon, P.; Spayde, D. T.; Subedi, A.; Subedi, R.; Suleiman, R.; Tadevosyan, V.; Tobias, W. A.; Tvaskis, V.; Waidyawansa, B.; Wang, P.; Wells, S. P.; Wood, S. A.; Yang, S.; Young, R. D.; Zhamkochyan, S.

    2016-12-01

    The Q-weak experiment at Jefferson Laboratory measured the parity violating asymmetry ( A P V ) in elastic electron-proton scattering at small momentum transfer squared ( Q 2=0.025 ( G e V/ c)2), with the aim of extracting the proton's weak charge ({Q^p_W}) to an accuracy of 5 %. As one of the major uncertainty contribution sources to {Q^p_W}, Q 2 needs to be determined to ˜1 % so as to reach the proposed experimental precision. For this purpose, two sets of high resolution tracking chambers were employed in the experiment, to measure tracks before and after the magnetic spectrometer. Data collected by the tracking system were then reconstructed with dedicated software into individual electron trajectories for experimental kinematics determination. The Q-weak kinematics and the analysis scheme for tracking data are briefly described here. The sources that contribute to the uncertainty of Q 2 are discussed, and the current analysis status is reported.

  12. The tracking analysis in the Q-weak experiment

    DOE PAGES

    Pan, J.; Androic, D.; Armstrong, D. S.; ...

    2016-11-21

    Here, the Q-weak experiment at Jefferson Laboratory measured the parity violating asymmetry (Amore » $$_{PV}$$ ) in elastic electron-proton scattering at small momentum transfer squared (Q$$^{2}$$=0.025 (G e V/c)$$^{2}$$), with the aim of extracting the proton’s weak charge ( $${Q^p_W}$$ ) to an accuracy of 5 %. As one of the major uncertainty contribution sources to $${Q^p_W}$$ , Q$$^{2}$$ needs to be determined to ~1 % so as to reach the proposed experimental precision. For this purpose, two sets of high resolution tracking chambers were employed in the experiment, to measure tracks before and after the magnetic spectrometer. Data collected by the tracking system were then reconstructed with dedicated software into individual electron trajectories for experimental kinematics determination. The Q-weak kinematics and the analysis scheme for tracking data are briefly described here. The sources that contribute to the uncertainty of Q$$^{2}$$ are discussed, and the current analysis status is reported.« less

  13. Light meson form factors at high Q2 from lattice QCD

    NASA Astrophysics Data System (ADS)

    Koponen, Jonna; Zimermmane-Santos, André; Davies, Christine; Lepage, G. Peter; Lytle, Andrew

    2018-03-01

    Measurements and theoretical calculations of meson form factors are essential for our understanding of internal hadron structure and QCD, the dynamics that bind the quarks in hadrons. The pion electromagnetic form factor has been measured at small space-like momentum transfer |q2| < 0.3 GeV2 by pion scattering from atomic electrons and at values up to 2.5 GeV2 by scattering electrons from the pion cloud around a proton. On the other hand, in the limit of very large (or infinite) Q2 = -q2, perturbation theory is applicable. This leaves a gap in the intermediate Q2 where the form factors are not known. As a part of their 12 GeV upgrade Jefferson Lab will measure pion and kaon form factors in this intermediate region, up to Q2 of 6 GeV2. This is then an ideal opportunity for lattice QCD to make an accurate prediction ahead of the experimental results. Lattice QCD provides a from-first-principles approach to calculate form factors, and the challenge here is to control the statistical and systematic uncertainties as errors grow when going to higher Q2 values. Here we report on a calculation that tests the method using an ηs meson, a 'heavy pion' made of strange quarks, and also present preliminary results for kaon and pion form factors. We use the nf = 2 + 1 + 1 ensembles made by the MILC collaboration and Highly Improved Staggered Quarks, which allows us to obtain high statistics. The HISQ action is also designed to have small dicretisation errors. Using several light quark masses and lattice spacings allows us to control the chiral and continuum extrapolation and keep systematic errors in check. Warning, no authors found for 2018EPJWC.17506016.

  14. The binding of activated Gαq to phospholipase C-β exhibits anomalous affinity.

    PubMed

    Navaratnarajah, Punya; Gershenson, Anne; Ross, Elliott M

    2017-10-06

    Upon activation by the G q family of Gα subunits, Gβγ subunits, and some Rho family GTPases, phospholipase C-β (PLC-β) isoforms hydrolyze phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate and diacylglycerol. PLC-β isoforms also function as GTPase-activating proteins, potentiating G q deactivation. To elucidate the mechanism of this mutual regulation, we measured the thermodynamics and kinetics of PLC-β3 binding to Gα q FRET and fluorescence correlation spectroscopy, two physically distinct methods, both yielded K d values of about 200 nm for PLC-β3-Gα q binding. This K d is 50-100 times greater than the EC 50 for Gα q -mediated PLC-β3 activation and for the Gα q GTPase-activating protein activity of PLC-β. The measured K d was not altered either by the presence of phospholipid vesicles, phosphatidylinositol 4,5-bisphosphate and Ca 2+ , or by the identity of the fluorescent labels. FRET-based kinetic measurements were also consistent with a K d of 200 nm We determined that PLC-β3 hysteresis, whereby PLC-β3 remains active for some time following either Gα q -PLC-β3 dissociation or PLC-β3-potentiated Gα q deactivation, is not sufficient to explain the observed discrepancy between EC 50 and K d These results indicate that the mechanism by which Gα q and PLC-β3 mutually regulate each other is far more complex than a simple, two-state allosteric model and instead is probably kinetically determined. © 2017 by The American Society for Biochemistry and Molecular Biology, Inc.

  15. Localization of the human tripeptidyl peptidase II gene (TPP2) to 13q32-q33 by nonradioactive in situ hybridization and somatic cell hybrids

    SciTech Connect

    Martinsson, T.; Vujic, M.; Tomkinson, B.

    1993-08-01

    The authors have assigned the human tripeptidyl peptidase II (TPP2) gene to chromosome region 13q32-q33 using two different methods. First, a full-length TPP2 cDNA was used as a probe on Southern blots of DNA from a panel of human/rodent somatic cell hybrids. The TPP2 sequences were found to segregate with the human chromosome 13. Second, fluorescence in situ hybridization analysis was performed with the same probe. This analysis supported the chromosome 13 localization and further refined it to region 13q32-q33. 20 refs., 2 figs.

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

    PubMed Central

    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

  17. Coenzyme Q(10) , endothelial function, and cardiovascular disease.

    PubMed

    Littarru, Gian Paolo; Tiano, Luca; Belardinelli, Romualdo; Watts, Gerald F

    2011-01-01

    Since the time a precise role of coenzyme Q(10) (CoQ(10) ) in myocardial bioenergetics was established, the involvement of CoQ in the pathophysiology of heart failure was hypothesized. This provided the rationale for numerous clinical trials of CoQ(10) as adjunctive treatment for heart failure. A mild hypotensive effect of CoQ was reported in the early years of clinical use of this compound. We review early human and animal studies on the vascular effects of CoQ. We then focus on endothelial dysfunction in type 2 diabetes and the possible impact on this condition of antioxidants and nutritional supplements, and in particular the therapeutic effects of CoQ. The effect of CoQ(10) on endothelial dysfunction in ischemic heart disease is also reviewed together with recent data highlighting that treatment with CoQ(10) increases extracellular SOD activity. Copyright © 2011 International Union of Biochemistry and Molecular Biology, Inc.

  18. Mitochondria-targeted antioxidant MitoQ reduces gentamicin-induced ototoxicity.

    PubMed

    Ojano-Dirain, Carolyn P; Antonelli, Patrick J; Le Prell, Colleen G

    2014-03-01

    Oral supplementation with mitoquinone (MitoQ) prevents gentamicin-induced ototoxicity in guinea pigs. Antioxidants have been shown to protect against aminoglycoside (AG)-induced ototoxicity. MitoQ, a mitochondria-targeted derivative of the antioxidant ubiquinone, is attached to a lipophilic triphenylphosphonium (TPP) cation, which enables its accumulation inside the mitochondria several hundred-fold over the untargeted antioxidant. MitoQ has improved bioavailability and can reach most tissues and has been used in Parkinson's disease and hepatitis C human trials, which demonstrated that MitoQ can be safely used in humans. Thus, MitoQ is a promising novel therapeutic approach for protecting against AG-induced ototoxicity. Gentamicin-treated guinea pigs were supplied with water alone (control), decyl-TPP (positive control), or MitoQ-supplemented drinking water. Auditory function was assessed by auditory brainstem response. Cochlear damage was assessed using scanning electron microscopy. Western blotting was performed to evaluate changes in proteins related to apoptosis and oxidative damage in the cochlea. Threshold shifts at 4 and 8 kHz at 4 and 7 weeks after gentamicin treatment were smaller in animals treated with MitoQ compared with those in the control- and decyl-TPP-treated animals (p < 0.05). Protein carbonyls and levels of the proapoptotic protein Bak were lower (p < 0.05 and p = 0.008, respectively), whereas the level of the antioxidant enzyme manganese superoxide dismutase was higher (p = 0.01) in the cochlea of MitoQ-treated animals. The expression of 3-nitrotyrosine and Hrk were not different between groups (p > 0.05). Oral supplementation with MitoQ attenuated gentamicin-induced cochlear damage and hearing loss in guinea pigs. MitoQ holds promise as a means for protecting against AG ototoxicity.

  19. Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems.

    PubMed

    Kulharya, A S; Michaelis, R C; Norris, K S; Taylor, H A; Garcia-Heras, J

    1998-06-05

    We present the clinical, cytogenetic, and molecular studies on a constitutional deletion of 19q ascertained prenatally due to decreased fetal activity and IUGR. Chromosome analysis by GTG banding on amniocytes suggested a del(19)(q13.1q13.3), but the analysis of microsatellites by PCR demonstrated that the deletion involved the distal segment of q12 and the proximal segment of q13.1 (15 cM). The severely affected female infant born at 38 weeks has clinical findings that may be related to haploinsufficiency of specific genes within 19q12.1-->q13.1 that control important processes of normal development and cell function.

  20. Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.

    PubMed

    Petersen, Andrea Klunder; Ahmad, Ausaf; Shafiq, Mustafa; Brown-Kipphut, Brigette; Fong, Chin-To; Anwar Iqbal, M

    2013-02-01

    Deletions on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotypes which include intellectual disability, autism, seizures, microcephaly/craniofacial dysmorphology, corpus callosal agenesis/hypogenesis, cardiac and genital anomalies, hand and foot abnormalities and short stature. Genotype-phenotype correlation reported a minimum region of 2 Mb at 1q43-q44. We report on a 3 ½ year old male patient diagnosed with autistic disorder who has social withdrawal, eating problems, repetitive stereotypic behaviors including self-injurious head banging and hair pulling, and no seizures, anxiety, or mood swings. Array comparative genomic hybridization (aCGH) showed an interstitial deletion of 473 kb at 1q43 region (239,412,391-239,885,394; NCBI build37/hg19) harboring only CHRM3 (Acetylcholine Receptor, Muscarinic, 3; OMIM: 118494). Recently, another case with a de novo interstitial deletion of 911 kb at 1q43 encompassing three genes including CHRM3 was reported. The M3 muscarinic receptor influences a multitude of central and peripheral nervous system processes via its interaction with acetylcholine and may be an important modulator of behavior, learning and memory. We propose CHRM3 as a candidate gene responsible for our patient's specific phenotype as well as the overlapping phenotypic features of other patients with 1q43 or 1q43-q44 deletions. Copyright © 2013. Published by Elsevier Masson SAS.

  1. Absorption band Q model for the Earth

    NASA Technical Reports Server (NTRS)

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

    1981-01-01

    Attenuation in solids and liquids, as measured by the quality factor Q, is typically frequency dependent. In seismology, however, Q is usually assumed to be independent of frequency. Body wave, surface wave, and normal mode data are used to place constraints on the frequency dependence of Q in the mantle. Specific features of the absorption band model are: low-Q in the seismic 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 sub s that increases with period, and low Q sub p/Q sub s at short periods in the middle mantle.

  2. Multiple solutions for a class of fractional (p, q)-Laplacian system in RN

    NASA Astrophysics Data System (ADS)

    Chen, Caisheng; Bao, Jinfeng; Song, Hongxue

    2018-03-01

    In this work, the symmetric mountain pass lemma is employed to establish the existence of infinitely many solutions to the fractional (p, q)-Laplacian system: (-Δ)p su +V1(x ) |u |p -2u =α-1Fu(x ,u ,v ) +λ b1(x ) |u |m -2u and (-Δ)q sv +V2(x ) |v |q -2v =α-1Fv(x ,u ,v ) +μ b2(x ) |v |k -2v in RN, where (-Δ)p s and (-Δ)q s are the fractional p and q-Laplacian operators, respectively, and 0 < s < 1 < q ≤ p, sp < N, p q/N N -q s ,q 2 ) satisfies the condition (A4) below.

  3. Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.

    PubMed

    Kwasnicka-Crawford, Dorota A; Carson, Andrew R; Roberts, Wendy; Summers, Anne M; Rehnström, Karola; Järvelä, Irma; Scherer, Stephen W

    2005-08-01

    Specific language impairment (SLI) is defined as failure to acquire normal language skills despite adequate intelligence and environmental stimulation. Although SLI disorders are often heritable, the genetic basis is likely to involve a number of risk factors. This study describes a 7-year-old girl carrying an inherited paracentric inversion of the long arm of chromosome 3 [46XX, inv(3)(q25.32-q29)] having clinically defined expressive and receptive language delay. Fluorescence in situ hybridization (FISH) with locus-specific bacterial artificial chromosome clones (BACs) as probes was used to characterize the inverted chromosome 3. The proximal and distal inversion breakpoint was found to reside between markers D3S3692/D3S1553 and D3S3590/D3S2305, respectively. ATP13A4, a novel gene coding for a cation-transporting P-type ATPase, was found to be disrupted by the distal breakpoint. The ATP13A4 gene was shown to comprise a 3591-bp transcript encompassing 30 exons spanning 152 kb of the genomic DNA. This study discusses the characterization of ATP13A4 and its possible involvement in speech-language disorder.

  4. De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

    PubMed

    Vari, Maria Stella; Traverso, Monica; Bellini, Tommaso; Madia, Francesca; Pinto, Francesca; Minetti, Carlo; Striano, Pasquale; Zara, Federico

    2017-08-01

    Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients. We perform a genetic analysis by Array-CGH in a patient with dysmorphic features and temporal lobe epilepsy. We report a de novo duplication of the long arm of chromosome 12. We confirm that 12q22-q23.3 is a candidate locus for familial temporal lobe epilepsy with febrile seizures and highlight the role of chromosomal rearrangements in patients with epilepsy and intellectual disability. Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  5. Structural Evolution of Q-Carbon and Nanodiamonds

    NASA Astrophysics Data System (ADS)

    Gupta, Siddharth; Bhaumik, Anagh; Sachan, Ritesh; Narayan, Jagdish

    2018-04-01

    This article provides insights pertaining to the first-order phase transformation involved in the growth of densely packed Q-carbon and nanodiamonds by nanosecond laser melting and quenching of diamond-like carbon (DLC) thin films. DLC films with different sp 3 content were melted rapidly in a controlled way in super-undercooled state and quenched, leading to formation of distinct nanostructures, i.e., nanodiamonds, Q-carbon, and Q-carbon nanocomposites. This analysis provides direct evidence of the dependence of the super-undercooling on the structural evolution of Q-carbon. Finite element heat flow calculations showed that the super-undercooling varies monotonically with the sp 3 content. The phenomenon of solid-liquid interfacial instability during directional solidification from the melt state is studied in detail. The resulting lateral segregation leads to formation of cellular filamentary Q-carbon nanostructures. The dependence of the cell size and wavelength at the onset of instability on the sp 3 content of DLC thin films was modeled based on perturbation theory.

  6. Highly sensitive and selective determination of redox states of coenzymes Q9 and Q10 in mice tissues: Application of orbitrap mass spectrometry.

    PubMed

    Pandey, Renu; Riley, Christopher L; Mills, Edward M; Tiziani, Stefano

    2018-06-29

    Coenzyme Q (CoQ) is a redox active molecule that plays a fundamental role in mitochondrial energy generation and functions as a potent endogenous antioxidant. Redox ratio of CoQ has been suggested as a good marker of mitochondrial dysfunction and oxidative stress. Nevertheless, simultaneous measurement of redox states of CoQ is challenging owing to its hydrophobicity and instability of the reduced form. In order to improve the analytical methodology, paying special attention to this instability, we developed a highly sensitive and selective high-resolution/accurate-mass (HR/AM) UHPLC-MS/MS method for the rapid determination of redox states of CoQ 9 and CoQ 10 by ultra-performance liquid chromatography-hybrid quadrupole-Orbitrap mass spectrometry. CoQs were extracted using hexane with the addition of butylated hydroxytoluene to limit oxidation during sample preparation. Chromatographic separation of the analytes was achieved on a Kinetex C 18 column with the isocratic elution of 5 mM ammonium formate in 2-propanol/methanol (60:40) within 4 min. A full MS/all ion fragmentation (AIF) acquisition mode with mass accuracy < 5 ppm was used for detection and determination of redox states of CoQ 9 and CoQ 10 in healthy mice tissues using reduced and oxidized CoQ 4 as internal standards. The validated method showed good linearity (r 2  ≥ 0.9991), intraday, inter-day precision (CVs ≤ 11.9%) and accuracy (RE ≤±15.2%). In contrast to existing methods, the current method offers enhanced sensitivity (up to 52 fold) with LOD and LOQ ranged from 0.01 to 0.49 ng mL -1 and 0.04-1.48 ng mL -1 , respectively. Moreover, we evaluated various diluents to investigate bench top stability (at 4 °C) of targeted analytes in tissue samples during LC-MS assay up to 24 h. Ethanol was determined to be an optimum diluent without any significant oxidation of reduced CoQ up to 24 h. The developed method offers a rapid, highly sensitive and selective strategy

  7. Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3

    SciTech Connect

    NONE

    1995-04-24

    The previously published results of a random search of the genome for susceptibility loci for schizophrenia showed a {open_quotes}hot spot{close_quotes} region on chromosome 22 (22q12-q13.1). We now have a sample of 57 families being genotyped and have completed analysis of 495 markers throughout the genome. From the results, no region of 22q can be excluded in our families, and the most likely region may be 22q11-q12. 4 refs., 1 tab.

  8. In Vitro Antibacterial Activities of JNJ-Q2, a New Broad-Spectrum Fluoroquinolone ▿ ‡

    PubMed Central

    Morrow, Brian J.; He, Wenping; Amsler, Karen M.; Foleno, Barbara D.; Macielag, Mark J.; Lynch, A. Simon; Bush, Karen

    2010-01-01

    JNJ-Q2, a novel fluorinated 4-quinolone, was evaluated for its antibacterial potency by broth and agar microdilution MIC methods in studies focused on skin and respiratory tract pathogens, including strains exhibiting contemporary fluoroquinolone resistance phenotypes. Against a set of 118 recent clinical isolates of Streptococcus pneumoniae, including fluoroquinolone-resistant variants bearing multiple DNA topoisomerase target mutations, an MIC90 value for JNJ-Q2 of 0.12 μg/ml was determined, indicating that it was 32-fold more potent than moxifloxacin. Against a collection of 345 recently collected methicillin-resistant Staphylococcus aureus (MRSA) isolates, including 256 ciprofloxacin-resistant strains, the JNJ-Q2 MIC90 value was 0.25 μg/ml, similarly indicating that it was 32-fold more potent than moxifloxacin. The activities of JNJ-Q2 against Gram-negative pathogens were generally comparable to those of moxifloxacin. In further studies, JNJ-Q2 exhibited bactericidal activities at 2× and 4× MIC levels against clinical isolates of S. pneumoniae and MRSA with various fluoroquinolone susceptibilities, and its activities were enhanced over those of moxifloxacin. In these studies, the activity exhibited against strains bearing gyrA, parC, or gyrA plus parC mutations was indicative of the relatively balanced (equipotent) activity of JNJ-Q2 against the DNA topoisomerase target enzymes. Finally, determination of the relative rates or frequencies of the spontaneous development of resistance to JNJ-Q2 at 2× and 4× MICs in S. pneumoniae, MRSA, and Escherichia coli were indicative of a lower potential for resistance development than that for current fluoroquinolones. In conclusion, JNJ-Q2 exhibits a range of antibacterial activities in vitro that is supportive of its further evaluation as a potential new agent for the treatment of skin and respiratory tract infections. PMID:20176911

  9. Comparison of satellite precipitation products with Q3 over the CONUS

    NASA Astrophysics Data System (ADS)

    Wang, J.; Petersen, W. A.; Wolff, D. B.; Kirstetter, P. E.

    2016-12-01

    The Global Precipitation Measurement (GPM) is an international satellite mission that provides a new-generation of global precipitation observations. A wealth of precipitation products have been generated since the launch of the GPM Core Observatory in February of 2014. However, the accuracy of the satellite-based precipitation products is affected by discrete temporal sampling and remote spaceborne retrieval algorithms. The GPM Ground Validation (GV) program is currently underway to independently verify the satellite precipitation products, which can be carried out by comparing satellite products with ground measurements. This study compares four Day-1 GPM surface precipitation products derived from the GPM Microwave Imager (GMI), Ku-band Precipitation Radar (KU), Dual-Frequency Precipitation Radar (DPR) and DPR-GMI CoMBined (CMB) algorithms, as well as the near-real-time Integrated Multi-satellitE Retrievals for GPM (IMERG) Late Run product and precipitation retrievals from Microwave Humidity Sounders (MHS) flown on NOAA and METOPS satellites, with the NOAA Multi-Radar Multi-Sensor suite (MRMS; now called "Q3"). The comparisons are conducted over the conterminous United States (CONUS) at various spatial and temporal scales with respect to different precipitation intensities, and filtered with radar quality index (RQI) thresholds and precipitation types. Various versions of GPM products are evaluated against Q3. The latest Version-04A GPM products are in reasonably good overall agreement with Q3. Based on the mission-to-date (March 2014 - May 2016) data from all GPM overpasses, the biases relative to Q3 for GMI and DPR precipitation estimates at 0.5o resolution are negative, whereas the biases for CMB and KU precipitation estimates are positive. Based on all available data (March 2015 - April 2016 at this writing), the CONUS-averaged near-real-time IMERG Late Run hourly precipitation estimate is about 46% higher than Q3. Preliminary comparison of 1-year (2015) MHS

  10. The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.

    PubMed

    Niarchou, Maria; Moore, Tyler M; Tang, Sunny X; Calkins, Monica E; McDonald-McGuinn, Donna M; Zackai, Elaine H; Emanuel, Beverly S; Gur, Ruben C; Gur, Raquel E

    2017-09-01

    22q11.2 Deletion Syndrome (22q11.2DS) is one of the strongest known genetic risk factors for developing schizophrenia. Individuals with 22q11.2DS have high rates of neurodevelopmental disorders in childhood, while in adulthood ∼25% develop schizophrenia. Similar to the general population, high rates of comorbidity are common in 22q11.2DS. Employing a dimensional approach where psychopathology is examined at the symptom-level as complementary to diagnostic categories in a population at such high genetic risk for schizophrenia can help gain a better understanding of how psychopathology is structured as well as its genetic underpinnings. This is the first study to examine the dimensional structure of a wide spectrum of psychopathology in the context of a homogeneous genetic etiology like 22q11.2DS. We evaluated 331 individuals with 22q11.2DS, mean age (SD) = 16.9(8.7); 51% males, who underwent prospective comprehensive phenotyping. We sought to replicate previous findings by examining a bi-factor model that derives a general factor of psychopathology in addition to more specific dimensions of psychopathology (i.e., internalizing, externalizing and thought disorder). Psychopathology in 22q11.2DS was divided into one 'general psychopathology' factor and four specific dimensions (i.e., 'anxiety', 'mood', 'ADHD' and 'psychosis'). The 'psychosis' symptoms loaded strongly on the 'general psychopathology' factor. The similarity of the symptom structure of psychopathology between 22q11.2DS and community and clinical populations without the deletion indicate that 22q11.2DS can provide a model to explore alternative approaches to our current nosology. Our findings add to a growing literature indicating the need to reorganize current diagnostic classification systems. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Compact and efficient 2μm Tm:YAP lasers with mechanical or passive Q-switching

    NASA Astrophysics Data System (ADS)

    Cole, Brian; Goldberg, Lew

    2017-02-01

    We describe compact and efficient Q-switched diode-pumped, Tm:YAP lasers operating at 1.94μm. Laser CW and Q-switched performance is compared, using both compact mechanical as well as passive Q-switching. For passive Q-switching using a Cr:ZnS saturable absorber (unsaturated transmission of 95%), the laser produced 0.5mJ pulses with an average power of 4.4W and 6.5kW peak power, and had an optical efficiency of 30%. A resonant mirror mechanical Q-switch resulted in a 4 kHz PRF pulse train, with an optical slope efficiency of 52% and an optical-to-optical conversion efficiency of 41%. The laser generated 1.5 mJ, 45 ns FWHM, 33kW peak power pulses, and 6.2W of average output. A second mechanically Q-switched laser operating at 10 kHz PRF produced 1mJ, 35kW peak power pulses, generating 11W average power with an optical efficiency of 46%, and a beam quality of 1.4x diffraction limit.

  12. Dispersals of the Siberian Y-chromosome haplogroup Q in Eurasia.

    PubMed

    Huang, Yun-Zhi; Pamjav, Horolma; Flegontov, Pavel; Stenzl, Vlastimil; Wen, Shao-Qing; Tong, Xin-Zhu; Wang, Chuan-Chao; Wang, Ling-Xiang; Wei, Lan-Hai; Gao, Jing-Yi; Jin, Li; Li, Hui

    2018-02-01

    The human Y-chromosome has proven to be a powerful tool for tracing the paternal history of human populations and genealogical ancestors. The human Y-chromosome haplogroup Q is the most frequent haplogroup in the Americas. Previous studies have traced the origin of haplogroup Q to the region around Central Asia and Southern Siberia. Although the diversity of haplogroup Q in the Americas has been studied in detail, investigations on the diffusion of haplogroup Q in Eurasia and Africa are still limited. In this study, we collected 39 samples from China and Russia, investigated 432 samples from previous studies of haplogroup Q, and analyzed the single nucleotide polymorphism (SNP) subclades Q1a1a1-M120, Q1a2a1-L54, Q1a1b-M25, Q1a2-M346, Q1a2a1a2-L804, Q1a2b2-F1161, Q1b1a-M378, and Q1b1a1-L245. Through NETWORK and BATWING analyses, we found that the subclades of haplogroup Q continued to disperse from Central Asia and Southern Siberia during the past 10,000 years. Apart from its migration through the Beringia to the Americas, haplogroup Q also moved from Asia to the south and to the west during the Neolithic period, and subsequently to the whole of Eurasia and part of Africa.

  13. 22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.

    PubMed

    Alp, M Y; Çebi, A H; Seyhan, S; Cansu, A; Aydin, H; Ikbal, M

    2016-01-01

    Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies. Here we described a male patient with de novo interstitial deletion of 13q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HPE, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM and HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q31.1-32.1.

  14. Sclerocornea Associated With the Chromosome 22q11.2 Deletion Syndrome

    PubMed Central

    Binenbaum, Gil; McDonald-McGinn, Donna M.; Zackai, Elaine H.; Walker, B. Michael; Coleman, Karlene; Mach, Amy M.; Adam, Margaret; Manning, Melanie; Alcorn, Deborah M.; Zabel, Carrie; Anderson, Dennis R.; Forbes, Brian J.

    2009-01-01

    Reported ocular findings in the 22q11.2 deletion syndrome (which encompasses the phenotypes of DiGeorge, velocardiofacial, and Takao (conotruncal-anomaly-face) syndromes) have included posterior embryotoxon (prominent, anteriorly displaced Schwalbe’s line at the corneal limbus or edge), retinal vascular tortuosity, eyelid hooding, strabismus, and astigmatism. We present seven 22q11.2 patients from multiple centers with sclerocornea, an eye finding previously unreported in the literature. Four boys and three girls were identified with sclerocornea, systemic DGS/VCFS findings, and fluorescence in situ hybridization (FISH)-confirmed microdeletion at chromosome 22q11.2. FISH diagnosis was perinatal in six patients but at 2 years of age in one child. Sclerocornea was bilateral in five patients. Findings included descemetocele (five eyes), microophthalmos (one eye), iridocorneal adhesions (one bilateral case), and severe anterior segment dysgenesis (one eye). Two patients underwent bilateral corneal transplantation; another two were scheduled for possible unilateral transplant. Sclerocornea is a static congenital condition in which the cornea is opaque and vascularized and resembles the sclera. The novel finding of sclerocornea suggests that a genetic locus at 22q11.2 may be involved in anterior segment embryogenesis. In most of our patients, the diagnostic process was underway, but in one patient 22q11.2 deletion was not suspected until after the child had already been undergoing treatment for sclerocornea for 2 years. Sclerocornea should be added to the clinical manifestations of the 22q11.2 deletion syndrome. Ophthalmologists diagnosing sclerocornea in children with systemic findings suggestive of 22q11.2 deletion should ensure appropriate genetic referral. PMID:18324686

  15. P/Q-type calcium channel modulators

    PubMed Central

    Nimmrich, V; Gross, G

    2012-01-01

    P/Q-type calcium channels are high-voltage-gated calcium channels contributing to vesicle release at synaptic terminals. A number of neurological diseases have been attributed to malfunctioning of P/Q channels, including ataxia, migraine and Alzheimer's disease. To date, only two specific P/Q-type blockers are known: both are peptides deriving from the spider venom of Agelenopsis aperta, ω-agatoxins. Other peptidic calcium channel blockers with activity at P/Q channels are available, albeit with less selectivity. A number of low molecular weight compounds modulate P/Q-type currents with different characteristics, and some exhibit a peculiar bidirectional pattern of modulation. Interestingly, there are a number of therapeutics in clinical use, which also show P/Q channel activity. Because selectivity as well as the exact mode of action is different between all P/Q-type channel modulators, the interpretation of clinical and experimental data is complicated and needs a comprehensive understanding of their target profile. The situation is further complicated by the fact that information on potency varies vastly in the literature, which may be the result of different experimental systems, conditions or the splice variants of the P/Q channel. This review attempts to provide a comprehensive overview of the compounds available that affect the P/Q-type channel and should help with the interpretation of results of in vitro experiments and animal models. It also aims to explain some clinical observations by implementing current knowledge about P/Q channel modulation of therapeutically used non-selective drugs. Chances and challenges of the development of P/Q channel-selective molecules are discussed. PMID:22670568

  16. De novo tandem duplication of chromosome segement 22q11-q12: Clinical, cytogenetic, and molecular characterization

    SciTech Connect

    Lindsay, E.A.; Shaffer, L.G.; Carrozzo, R.

    We report on a case of duplication of the segment 22q11-q12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D22Z4, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker proximal to the Ewing sarcoma breakpoint. The segment includes the regions responsible for the {open_quotes}cat-eye{close_quotes}, Di George, and velo-cardio-facial syndromes and extends distal to the breakpoint cluster region (BCR). The clinical picture is dominated by the cardiac defects and includes findings reminiscent of {open_quotes}cat-eye{close_quotes} syndrome. These findings reinforce the hypothesis that the proximalmore » 22q region contains dosage-sensitive genes involved in development. 20 refs., 3 figs.« less

  17. DNA methylation levels at chromosome 8q24 in peripheral blood are associated with 8q24 cancer susceptibility loci.

    PubMed

    Barry, Kathryn Hughes; Moore, Lee E; Sampson, Joshua; Yan, Liying; Meyer, Ann; Oler, Andrew J; Chung, Charles C; Wang, Zhaoming; Yeager, Meredith; Amundadottir, Laufey; Berndt, Sonja I

    2014-12-01

    Chromosome 8q24 has emerged as an important region for genetic susceptibility to various cancers, but little is known about the contribution of DNA methylation at 8q24. To evaluate variability in DNA methylation levels at 8q24 and the relationship with cancer susceptibility single nucleotide polymorphisms (SNPs) in this region, we quantified DNA methylation levels in peripheral blood at 145 CpG sites nearby 8q24 cancer susceptibility SNPs or MYC using pyrosequencing among 80 Caucasian men in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial. For the 60 CpG sites meeting quality control, which also demonstrated temporal stability over a 5-year period, we calculated pairwise Spearman correlations for DNA methylation levels at each CpG site with 42 8q24 cancer susceptibility SNPs. To account for multiple testing, we adjusted P values into q values reflecting the false discovery rate (FDR). In contrast to the MYC CpG sites, most sites nearby the SNPs demonstrated good reproducibility, high methylation levels, and moderate-high between-individual variation. We observed 10 statistically significant (FDR < 0.05) CpG site-SNP correlations. These included correlations between an intergenic CpG site at Chr8:128393157 and the prostate cancer SNP rs16902094 (ρ = -0.54; P = 9.7 × 10(-7); q = 0.002), a PRNCR1 CpG site at Chr8:128167809 and the prostate cancer SNP rs1456315 (ρ = 0.52; P = 1.4 × 10(-6); q = 0.002), and two POU5F1B CpG sites and several prostate/colorectal cancer SNPs (for Chr8:128498051 and rs6983267, ρ = 0.46; P = 2.0 × 10(-5); q = 0.01). This is the first report of correlations between blood DNA methylation levels and cancer susceptibility SNPs at 8q24, suggesting that DNA methylation at this important susceptibility locus may contribute to cancer risk. ©2014 American Association for Cancer Research.

  18. Q-balls in flat potentials

    SciTech Connect

    Copeland, Edmund J.; Tsumagari, Mitsuo I.

    2009-07-15

    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.

  19. Plasma coenzyme Q10 levels in type 2 diabetic patients with retinopathy

    PubMed Central

    Ates, Orhan; Bilen, Habip; Keles, Sadullah; Alp, H. Hakan; Keleş, Mevlüt Sait; Yıldırım, Kenan; Öndaş, Osman; Pınar, L. Can; Civelekler, Mustafa; Baykal, Orhan

    2013-01-01

    AIM To determine the relationship between proliferative diabetic retinopathy (PDRP) and plasma coenzyme Q10(CoQ10) concentration. METHODS Patients with type 2 diabetes and PDRP were determined to be the case group (n=50). The control group was consist of healthy individuals (n=50). Plasma CoQ10 and malondialdehyde (MDA) levels were measured in both groups. RESULTS Ubiquinone-10 (Coenzyme Q10) levels in PDRP and control subjects are 3.81±1.19µmol/L and 1.91±0.62µmol/L, respectively. Plasma MDA levels in PDRP and control subjects were 8.16±2µmol/L and 3.44±2.08µmol/L, respectively. Ratio of Ubiquinol-10/ubiquinone-10 in PDRP and control subjects were 0.26±0.16 and 1.41±0.68, respectively. CONCLUSION The ratio of ubiquinol-10/ubiquinone-10 is found lower in patients with PDRP. High levels of plasma ubiquinol-10/ubiquinone-10 ratio indicate the protective effect on diabetic retinopathy. PMID:24195048

  20. Development of an NPM1/MLF1 D-FISH probe set for the detection of t(3;5)(q25;q35) identified in patients with acute myeloid leukemia.

    PubMed

    Aypar, Umut; Knudson, Ryan A; Pearce, Kathryn E; Wiktor, Anne E; Ketterling, Rhett P

    2014-09-01

    The t(3;5)(q25;q35) NPM1/MLF1 fusion has an incidence of approximately 0.5% in acute myeloid leukemia (AML) and has an intermediate prognosis at diagnosis. We have developed a dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) assay to detect fusion of the MLF1 and NPM1 genes. A blinded investigation was performed using 25 normal bone marrow specimens and 26 bone marrow samples from patients with one or more metaphases with a t(3;5)(q21-q25;q31-q35) or a der(5)t(3;5)(q21-q25;q31-q35) previously identified by chromosome analysis. Once unblinded, the results indicate our D-FISH method identified NPM1/MLF1 fusion in 15 of the 26 fully evaluated patient samples. Excluding three samples with a single abnormal t(3;5) metaphase, 15 of 17 (88%) patient samples with a balanced t(3;5) demonstrated NPM1/MLF1 fusion, and 0 of 6 patient samples with a der(5)t(3;5) demonstrated NPM1/MLF1 fusion, suggesting only the balanced form of this 3;5 translocation as observed by karyotype is associated with NPM1/MLF1 fusion. Overall, the FISH results demonstrated five different outcomes (NPM1/MLF1 fusion, MLF1 disruption, MLF1 duplication, NPM1 deletion, and normal), indicating significant molecular heterogeneity when the 3;5 translocation is identified. The development of this sensitive D-FISH strategy for the detection of NPM1/MLF1 fusion adds to the AML FISH testing repertoire and is effective in the detection of this translocation at diagnosis as well as monitoring residual disease in AML patients. Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

  1. The psychometric validation of a 1-week recall period for the OAB-q.

    PubMed

    Coyne, Karin S; Gelhorn, Heather; Thompson, Christine; Kopp, Zoe S; Guan, Zhonghong

    2011-12-01

    As shorter recall periods are sometimes preferable to longer recall periods, the objective of this study was to evaluate the psychometric characteristics and measurement properties of the 1-week recall version of the Overactive Bladder Questionnaire (OAB-q). Secondary analyses were performed on data for three 12-week clinical trials of fesoterodine. Patients completed the Patient Perception of Bladder Condition (PPBC), the Patient Perception of Urgency Scale (PPUS), and 3-day bladder diaries in addition to the OAB-q at baseline, 4 and 12 weeks. Analyses were conducted to evaluate the reliability, concurrent and discriminant validity and responsiveness of the OAB-q 1-week recall version. The patients in the three studies (Study 1: N=516, Study 2: N=441; Study 3: N=882) had a mean age of 59.6, 59.4, and 59.9 years, respectively; and most of the patients were female (77.1%, 88.9%, and 82.9%) and White (76.6%, 90.0%, and 88.0%). Patients had been diagnosed with OAB for a mean of 5.2, 8.3, and 9.1 years, respectively. Cronbach's alpha values were greater than 0.85 across all samples and subscales. Correlations between the 1-week recall version of the OAB-q and the PPBC, PPUS, and most of the bladder diary variables were moderate to strong. Discriminant validity of the OAB-q was good, with significant differences in mean OAB-q scores across all response categories of the PPUS. The OAB-q was highly responsive to changes in patients' conditions as indicated by moderate to large effect sizes. The OAB-q 1-week recall version has a similar factor structure to the 4-week recall version with each subscale model demonstrating acceptable fit. The 1-week recall version of the OAB-q appears to be reliable, valid, and responsive and is psychometrically equivalent to the 4-week recall version. The validation of the 1-week recall version offers researchers and clinicians an additional option for using the OAB-q.

  2. Loss in 3p and 4p and gain of 3q are concomitant aberrations in squamous cell carcinoma of the vulva.

    PubMed

    Jee, K J; Kim, Y T; Kim, K R; Kim, H S; Yan, A; Knuutila, S

    2001-05-01

    Neoplasm of the vulva is a rare malignancy accounting for <5% of all female genital-tract cancer. However, in recent years the incidence of vulva intraepithelial neoplasia, known to serve as a precursor to carcinoma, has increased in young women generating considerable interest in its pathogenesis. Genetic changes at the molecular level in precursor or invasive vulvar tumors are not well investigated, and DNA copy number changes have not been reported until now. We used comparative genomic hybridization (CGH) to analyze genetic alterations in 10 primary invasive squamous cell carcinomas of the vulva. Chromosomal aberrations were identified in 8/10 cases. The most frequent chromosomal losses were 4p13-pter (five cases), 3p (four cases), and 5q (two cases), and less frequent losses were detected at 6q, 11q, and 13q (one case each). The most frequent chromosomal gains were 3q (four cases) and 8p (three cases), and less frequent gains were found in 9p, 14, 17, and 20q (one case each). The pattern of chromosomal imbalance in vulvar cancer detected by CGH was revealed to be very similar to that in cervical cancers, despite regional differences in their prevalence. These results suggest that the pathogenic pathways in vulvar and cervical carcinomas may be similar and that the genetic background may be common to these two squamous cell carcinomas.

  3. Resveratrol and para-coumarate serve as ring precursors for coenzyme Q biosynthesis[S

    PubMed Central

    Xie, Letian X.; Williams, Kevin J.; He, Cuiwen H.; Weng, Emily; Khong, San; Rose, Tristan E.; Kwon, Ohyun; Bensinger, Steven J.; Marbois, Beth N.; Clarke, Catherine F.

    2015-01-01

    Coenzyme Q (Q or ubiquinone) is a redox-active polyisoprenylated benzoquinone lipid essential for electron and proton transport in the mitochondrial respiratory chain. The aromatic ring 4-hydroxybenzoic acid (4HB) is commonly depicted as the sole aromatic ring precursor in Q biosynthesis despite the recent finding that para-aminobenzoic acid (pABA) also serves as a ring precursor in Saccharomyces cerevisiae Q biosynthesis. In this study, we employed aromatic 13C6-ring-labeled compounds including 13C6-4HB, 13C6-pABA, 13C6-resveratrol, and 13C6-coumarate to investigate the role of these small molecules as aromatic ring precursors in Q biosynthesis in Escherichia coli, S. cerevisiae, and human and mouse cells. In contrast to S. cerevisiae, neither E. coli nor the mammalian cells tested were able to form 13C6-Q when cultured in the presence of 13C6-pABA. However, E. coli cells treated with 13C6-pABA generated 13C6-ring-labeled forms of 3-octaprenyl-4-aminobenzoic acid, 2-octaprenyl-aniline, and 3-octaprenyl-2-aminophenol, suggesting UbiA, UbiD, UbiX, and UbiI are capable of using pABA or pABA-derived intermediates as substrates. E. coli, S. cerevisiae, and human and mouse cells cultured in the presence of 13C6-resveratrol or 13C6-coumarate were able to synthesize 13C6-Q. Future evaluation of the physiological and pharmacological responses to dietary polyphenols should consider their metabolism to Q. PMID:25681964

  4. Parabolic Systems with p, q-Growth: A Variational Approach

    NASA Astrophysics Data System (ADS)

    Bögelein, Verena; Duzaar, Frank; Marcellini, Paolo

    2013-10-01

    We consider the evolution problem associated with a convex integrand {f : {R}^{Nn}to [0,infty)} satisfying a non-standard p, q-growth assumption. To establish the existence of solutions we introduce the concept of variational solutions. In contrast to weak solutions, that is, mappings {u\\colon Ω_T to {R}^n} which solve partial_tu-div Df(Du)=0 weakly in {Ω_T}, variational solutions exist under a much weaker assumption on the gap q - p. Here, we prove the existence of variational solutions provided the integrand f is strictly convex and 2n/n+2 < p le q < p+1. These variational solutions turn out to be unique under certain mild additional assumptions on the data. Moreover, if the gap satisfies the natural stronger assumption 2le p le q < p+ minbig \\{1,4/n big \\}, we show that variational solutions are actually weak solutions. This means that solutions u admit the necessary higher integrability of the spatial derivative Du to satisfy the parabolic system in the weak sense, that is, we prove that uin L^q_locbig(0,T; W^{1,q}_loc(Ω,{R}^N)big).

  5. Calcium binding and transport by coenzyme Q.

    PubMed

    Bogeski, Ivan; Gulaboski, Rubin; Kappl, Reinhard; Mirceski, Valentin; Stefova, Marina; Petreska, Jasmina; Hoth, Markus

    2011-06-22

    Coenzyme Q10 (CoQ10) is one of the essential components of the mitochondrial electron-transport chain (ETC) with the primary function to transfer electrons along and protons across the inner mitochondrial membrane (IMM). The concomitant proton gradient across the IMM is essential for the process of oxidative phosphorylation and consequently ATP production. Cytochrome P450 (CYP450) monoxygenase enzymes are known to induce structural changes in a variety of compounds and are expressed in the IMM. However, it is unknown if CYP450 interacts with CoQ10 and how such an interaction would affect mitochondrial function. Using voltammetry, UV-vis spectrometry, electron paramagnetic resonance (EPR), nuclear magnetic resonance (NMR), fluorescence microscopy and high performance liquid chromatography-mass spectrometry (HPLC-MS), we show that both CoQ10 and its analogue CoQ1, when exposed to CYP450 or alkaline media, undergo structural changes through a complex reaction pathway and form quinone structures with distinct properties. Hereby, one or both methoxy groups at positions 2 and 3 on the quinone ring are replaced by hydroxyl groups in a time-dependent manner. In comparison with the native forms, the electrochemically reduced forms of the new hydroxylated CoQs have higher antioxidative potential and are also now able to bind and transport Ca(2+) across artificial biomimetic membranes. Our results open new perspectives on the physiological importance of CoQ10 and its analogues, not only as electron and proton transporters, but also as potential regulators of mitochondrial Ca(2+) and redox homeostasis.

  6. Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion.

    PubMed

    Rakonjac, Marijana; Cuturilo, Goran; Stevanovic, Milena; Jelicic, Ljiljana; Subotic, Misko; Jovanovic, Ida; Drakulic, Danijela

    2016-08-01

    22q11.2DS is the most common microdeletion syndrome in humans, usually associated with speech and language delay (SLD). Approximately 75% of children with 22q11.2 microdeletion have congenital heart malformations (CHM) which after infant open-heart surgery might lead to SLD. The purpose of this study was to determine whether factors associated with microdeletion contribute to SLD in children with 22q11.2DS. We compared speech and language abilities of two groups of school-aged children: those with 22q11.2 microdeletion (E1) and those with the phenotype resembling 22q11.2DS but without the microdeletion (E2). An age-matched group of typically developing children was also tested. The obtained results revealed that children from group E1 have lower level of speech and language abilities compared to children from group E2 and control group. Additionally, mild to moderate SLD was detected in children from group E2 compared to children from the control group. The obtained results imply that both CHM after infant open-heart surgery and other factors associated with 22q11.2 microdeletion, contribute to SLD in patients with 22q11.2 microdeletion. Based on this, we could postulate that there is/are some potential candidate gene(s), located in the 22q11.2 region, whose function could be important for speech and language development. Copyright © 2016 Elsevier Ltd. All rights reserved.

  7. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    PubMed Central

    Grassi, Marcília S.; Jacob, Cristina M. A.; Kulikowski, Leslie D.; Pastorino, Antonio C.; Dutra, Roberta L.; Miura, Nana; Jatene, Marcelo B.; Pegler, Stephanie P.; Kim, Chong A.; Carneiro-Sampaio, Magda

    2014-01-01

    Background To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients. PMID:25317860

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

    PubMed

    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.

  9. Genetics Home Reference: 3q29 microduplication syndrome

    MedlinePlus

    ... 3q29 Related Information How are genetic conditions and genes named? Additional Information & Resources MedlinePlus (3 links) Encyclopedia: Microcephaly Encyclopedia: Obesity Health Topic: Developmental Disabilities Genetic and Rare Diseases ...

  10. Biochemistry of Mitochondrial Coenzyme Q Biosynthesis.

    PubMed

    Stefely, Jonathan A; Pagliarini, David J

    2017-10-01

    Coenzyme Q (CoQ, ubiquinone) is a redox-active lipid produced across all domains of life that functions in electron transport and oxidative phosphorylation and whose deficiency causes human diseases. Yet, CoQ biosynthesis has not been fully defined in any organism. Several proteins with unclear molecular functions facilitate CoQ biosynthesis through unknown means, and multiple steps in the pathway are catalyzed by currently unidentified enzymes. Here we highlight recent progress toward filling these knowledge gaps through both traditional biochemistry and cutting-edge 'omics' approaches. To help fill the remaining gaps, we present questions framed by the recently discovered CoQ biosynthetic complex and by putative biophysical barriers. Mapping CoQ biosynthesis, metabolism, and transport pathways has great potential to enhance treatment of numerous human diseases. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Topical treatment with coenzyme Q10-containing formulas improves skin's Q10 level and provides antioxidative effects.

    PubMed

    Knott, Anja; Achterberg, Volker; Smuda, Christoph; Mielke, Heiko; Sperling, Gabi; Dunckelmann, Katja; Vogelsang, Alexandra; Krüger, Andrea; Schwengler, Helge; Behtash, Mojgan; Kristof, Sonja; Diekmann, Heike; Eisenberg, Tanya; Berroth, Andreas; Hildebrand, Janosch; Siegner, Ralf; Winnefeld, Marc; Teuber, Frank; Fey, Sven; Möbius, Janne; Retzer, Dana; Burkhardt, Thorsten; Lüttke, Juliane; Blatt, Thomas

    2015-01-01

    Ubiquinone (coenzyme Q10, Q10) represents an endogenously synthesized lipid-soluble antioxidant which is crucial for cellular energy production but is diminished with age and under the influence of external stress factors in human skin. Here, it is shown that topical Q10 treatment is beneficial with regard to effective Q10 replenishment, augmentation of cellular energy metabolism, and antioxidant effects. Application of Q10-containing formulas significantly increased the levels of this quinone on the skin surface. In the deeper layers of the epidermis the ubiquinone level was significantly augmented indicating effective supplementation. Concurrent elevation of ubiquinol levels suggested metabolic transformation of ubiquinone resulting from increased energy metabolism. Incubation of cultured human keratinocytes with Q10 concentrations equivalent to treated skin showed a significant augmentation of energy metabolism. Moreover, the results demonstrated that stressed skin benefits from the topical Q10 treatment by reduction of free radicals and an increase in antioxidant capacity. © 2015 International Union of Biochemistry and Molecular Biology.

  12. A disseminated alveolar rhabdomyosarcoma in a 9-year-old boy disclosed by chromosomal translocation (2;13) (q35;q14)

    PubMed

    Brichard, B; Ninane, J; Gosseye, S; Verellen-Dumoulin, C; Vermylen, C; Rodhain, J; Cornu, G

    1991-01-01

    A 9-year-old boy presented with a small subcutaneous tumor of the trunk and diffuse bone marrow involvement. The first histological diagnosis given was undifferentiated malignancy possibly of neural crest origin and chemotherapy was started immediately using vincristine, cyclophosphamide, cisplatin, and teniposide (OPEC). Complete response was achieved after four courses of chemotherapy. Histological slides were then reviewed and the final diagnosis of alveolar rhabdomyosarcoma (RMS) was retained. Moreover, chromosome analysis of malignant cells in the bone marrow revealed a translocation involving chromosomes 2 and 13:t(2;13) (q35;q14). This specific karyotype finding has been recently reported in a few cases and could be specific for alveolar RMS. The patient had a relapse 7 months after diagnosis and died 4 months later.

  13. The effects of Q-nuclei on stellar burning

    NASA Astrophysics Data System (ADS)

    Boyd, R. N.; Turner, R. E.; Sur, B.; Rybarcyk, L.; Joseph, C.

    1985-01-01

    The effects of anomalous nuclei, Q-nuclei, on stellar burning are examined. The baryon binding energies, beta-decay properties, and thermonuclear reaction rates for the Q-nuclei suggest they could catalyze a cycle in which four protons are combined to form a 4He nucleus. The properties required of the Q-nuclei for them to solve the solar neutrino problem are determined. A solar modelling calculation was performed with Q-nuclei included, and several interesting results therefrom are compared to observations. Finally the solar neutrino detection rates for 71Ga and 115In detectors, in addition to that for 37Cl, are estimated when Q-nuclei are included in the solar burning.

  14. Communication: Two-step explosion processes of highly charged fullerene cations C{sub 60}{sup q+} (q = 20–60)

    SciTech Connect

    Yamazaki, Kaoru; Nakamura, Takashi; Kanno, Manabu

    2014-09-28

    To establish the fundamental understanding of the fragmentation dynamics of highly positive charged nano- and bio-materials, we carried out on-the-fly classical trajectory calculations on the fragmentation dynamics of C{sub 60}{sup q+} (q = 20–60). We used the UB3LYP/3-21G level of density functional theory and the self-consistent charge density-functional based tight-binding theory. For q ≥ 20, we found that a two-step explosion mechanism governs the fragmentation dynamics: C{sub 60}{sup q+} first ejects singly and multiply charged fast atomic cations C{sup z+} (z ≥ 1) via Coulomb explosions on a timescale of 10 fs to stabilize the remaining core cluster. Thermal evaporationsmore » of slow atomic and molecular fragments from the core cluster subsequently occur on a timescale of 100 fs to 1 ps. Increasing the charge q makes the fragments smaller. This two-step mechanism governs the fragmentation dynamics in the most likely case that the initial kinetic energy accumulated upon ionization to C{sub 60}{sup q+} by ion impact or X-ray free electron laser is larger than 100 eV.« less

  15. Fermi-Pasta-Ulam-Tsingou problems: Passage from Boltzmann to q-statistics

    NASA Astrophysics Data System (ADS)

    Bagchi, Debarshee; Tsallis, Constantino

    2018-02-01

    The Fermi-Pasta-Ulam (FPU) one-dimensional Hamiltonian includes a quartic term which guarantees ergodicity of the system in the thermodynamic limit. Consistently, the Boltzmann factor P(ε) ∼e-βε describes its equilibrium distribution of one-body energies, and its velocity distribution is Maxwellian, i.e., P(v) ∼e - βv2 /2. We consider here a generalized system where the quartic coupling constant between sites decays as 1 / dijα (α ≥ 0 ;dij = 1 , 2 , …) . Through first-principle molecular dynamics we demonstrate that, for large α (above α ≃ 1), i.e., short-range interactions, Boltzmann statistics (based on the additive entropic functional SB [ P(z) ] = - k ∫ dzP(z) ln P(z)) is verified. However, for small values of α (below α ≃ 1), i.e., long-range interactions, Boltzmann statistics dramatically fails and is replaced by q-statistics (based on the nonadditive entropic functional Sq [ P(z) ] = k(1 - ∫ dz[ P(z) ]q) /(q - 1) , with S1 =SB). Indeed, the one-body energy distribution is q-exponential, P(ε) ∼ eqε-βε ε ≡[ 1 +(qε - 1) βε ε ]-1 /(qε - 1) with qε > 1, and its velocity distribution is given by P(v) ∼ eqv-βvv2 / 2 with qv > 1. Moreover, within small error bars, we verify qε =qv = q, which decreases from an extrapolated value q ≃ 5 / 3 to q = 1 when α increases from zero to α ≃ 1, and remains q = 1 thereafter.

  16. Pulse compression in an electro-optic Q-switched diode-pumped YVO4/Nd:YVO4 laser with a Cr4+:YAG saturable absorber.

    PubMed

    Li, Tao; Zhao, Shengzhi; Zhuo, Zhuang; Yang, Kejian; Li, Guiqiu; Li, Dechun

    2009-04-20

    A diode end-pumped doubly Q-switched YVO4/Nd:YVO4 laser has been realized for the first time to our knowledge by using both an electro-optic (EO) modulator and a Cr4):YAG saturable absorber. A 3.8 ns pulse width is generated by this laser under a pump power of 15 W at 2 kHz, which is obviously compressed in comparison with that of 8.8 ns from a single actively EO Q-switched laser. Under the same conditions, peak power values of 174.7 and 93 kW are also obtained. A coupled equation is given to theoretically analyze the experimental data. The experimental and theoretical results show that the doubly Q-switched laser has the advantages of a shorter pulse width and higher pulse peak power in contrast with a singly Q-switched laser.

  17. Comparative bioavailability of two novel coenzyme Q10 preparations in humans.

    PubMed

    Joshi, S S; Sawant, S V; Shedge, A; Halpner, A D

    2003-01-01

    To determine the absorptive properties of 2 novel coenzyme Q10 preparations, a fast-melting tablet and an effervescent tablet, compared with currently available formulations. In the first trial, the absorptive properties of 4 different coenzyme Q10 preparations (fast-melting, effervescent, soft gelatin, and powder-filled hard shell) were studied in a randomized, single-dose, crossover study. Twenty-four male subjects were given a 60 mg dose of coenzyme Q10 and plasma coenzyme Q10 was measured over the next 12 hours. Pharmacokinetic properties including area under the curve (AUC), maximum plasma concentration (Cmax), time to maximum plasma concentration (Tmax) and elimination half-life (t 1/2) were measured. In a separate single-dose study, the absorptive characteristics of a different coenzyme Q10 soft gel (Q-Gel) were studied in 6 male subjects. Area under the curve (microg/ml x h) for the fast-melting and effervescent formulations, while marginally greater, was not significantly different when compared to the soft gelatin and powder-filled preparations, 5.4 +/- 1.04 (110%) and 5.5 +/- 0.589 (112%) versus 5.0 +/- 0.859 (102%) and 4.9 +/- 0.812 (100%), respectively. Cmax for the 2 novel formulations was also not statistically different from the soft gelatin or powder-filled preparations, 0.87 +/- 0.14 and 0.86 +/- 0.074 versus 0.70 +/- 0.010 and 0.81 +/- 0.159 (microg/ml). Tmax however, was significantly shorter for the fast-melting and effervescent formulations compared with the soft gel and powder-filled forms, 1.3 +/- 0.348 and 2.0 +/- 0.552 versus 3.7 +/- 0.702 and 4.1 +/- 0.993 (h), respectively. The results of the second trial were similar to those of the powder-filled and soft gel formulations from the first study. The novel fast-melting and effervescent formulations provide a more rapid delivery of CoQ10 to the blood while exhibiting a similar AUC compared with current formulations. The potential clinical significance of this finding should be further

  18. Coenzyme Q supplementation in pulmonary arterial hypertension

    PubMed Central

    Sharp, Jacqueline; Farha, Samar; Park, Margaret M.; Comhair, Suzy A.; Lundgrin, Erika L.; Tang, W.H. Wilson; Bongard, Robert D.; Merker, Marilyn P.; Erzurum, Serpil C.

    2014-01-01

    Mitochondrial dysfunction is a fundamental abnormality in the vascular endothelium and smooth muscle of patients with pulmonary arterial hypertension (PAH). Because coenzyme Q (CoQ) is essential for mitochondrial function and efficient oxygen utilization as the electron carrier in the inner mitochondrial membrane, we hypothesized that CoQ would improve mitochondrial function and benefit PAH patients. To test this, oxidized and reduced levels of CoQ, cardiac function by echocardiogram, mitochondrial functions of heme synthesis and cellular metabolism were evaluated in PAH patients (N=8) in comparison to healthy controls (N=7), at baseline and after 12 weeks oral CoQ supplementation. CoQ levels were similar among PAH and control individuals, and increased in all subjects with CoQ supplementation. PAH patients had higher CoQ levels than controls with supplementation, and a tendency to a higher reduced-to-oxidized CoQ ratio. Cardiac parameters improved with CoQ supplementation, although 6-minute walk distances and BNP levels did not significantly change. Consistent with improved mitochondrial synthetic function, hemoglobin increased and red cell distribution width (RDW) decreased in PAH patients with CoQ, while hemoglobin declined slightly and RDW did not change in healthy controls. In contrast, metabolic and redox parameters, including lactate, pyruvate and reduced or oxidized gluthathione, did not change in PAH patients with CoQ. In summary, CoQ improved hemoglobin and red cell maturation in PAH, but longer studies and/or higher doses with a randomized placebo-controlled controlled design are necessary to evaluate the clinical benefit of this simple nutritional supplement. PMID:25180165

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

    PubMed

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

    2013-01-01

    within your organisation? This article asks you to question if you have truly embraced Q8(R2), Q9, and Q10, and in doing so can you demonstrate that you have made the necessary changes that would warrant reduced regulatory oversight?

  20. Improved H mode with flat central q profile on EAST

    NASA Astrophysics Data System (ADS)

    Liu, Haiqing; Yang, Yao; Gao, Xiang; Zeng, Long; Qian, Jinping; Gong, Xianzu; Wan, Baonian; Ding, Weixing; Brower, David Lyn; EAST Team

    2017-10-01

    High betaN ( 1.8) plasma with good confinement (H98y2 1.1) on EAST tokamak has been reported recently. These ELMy H-mode plasmas with Bt = 1.6T, Ip = 400 kA and q95 4.5 were heated by lower hybrid wave and neutral beam injection. The internal transport barrier (ITB) and edge transport barrier (ETB) are both observed with m/n =1/1 fishbone, which were identified to clamp central q at values close to unity. Implying an improved H-mode with flat central q profile and absence of sawteeth, like other devices. Accurate q profile, key profile for developing scenarios aim at high performance H mode, were derived by Polarimeter-interferometer (POINT) measurement as constraint. Base on the optimized current profile, better confinement (H98y2 1.4) with an electron ITB was obtained also with flat central q profile and absence of sawteeth at high betaP ( 2) regime with Bt = 2.5T, Ip = 400 kA. Both high betaN regime and high betaP regime H mode, are characterized by a stationary flat central q profile q0 >=1, but typically close to 1, absence of sawteeth, H98(y,2) >1 and simultaneously, with ITB. This work is supported by the National Magnetic Confinement Fusion Program of China with Contract No. 2014GB106002 and partly supported by the US D.O.E. contract DESC0010469.

  1. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

    PubMed Central

    Karolak, Justyna A; Gambin, Tomasz; Pitarque, Jose A; Molinari, Andrea; Jhangiani, Shalini; Stankiewicz, Pawel; Lupski, James R; Gajecka, Marzena

    2017-01-01

    Keratoconus (KTCN) is a protrusion and thinning of the cornea, resulting in impairment of visual function. The extreme genetic heterogeneity makes it difficult to discover factors unambiguously influencing the KTCN phenotype. In this study, we used whole-exome sequencing (WES) and Sanger sequencing to reduce the number of candidate genes at the 5q31.1–q35.3 locus and to prioritize other potentially relevant variants in an Ecuadorian family with KTCN. We applied WES in two affected KTCN individuals from the Ecuadorian family that showed a suggestive linkage between the KTCN phenotype and the 5q31.1–q35.3 locus. Putative variants identified by WES were further evaluated in this family using Sanger sequencing. Exome capture discovered a total of 173 rare (minor allele frequency <0.001 in control population) nonsynonymous variants in both affected individuals. Among them, 16 SNVs were selected for further evaluation. Segregation analysis revealed that variants c.475T>G in SKP1, c.671G>A in PROB1, and c.527G>A in IL17B in the 5q31.1–q35.3 linkage region, and c.850G>A in HKDC1 in the 10q22 locus completely segregated with the phenotype in the studied KTCN family. We demonstrate that a combination of various techniques significantly narrowed the studied genomic region and reduced the list of the putative exonic variants. Moreover, since this locus overlapped two other chromosomal regions previously recognized in distinct KTCN studies, our findings suggest that this 5q31.1–q35.3 locus might be linked with KTCN. PMID:27703147

  2. Recurrent spontaneous abortions due to a homologous Robertsonian translocation (14q14q)

    PubMed Central

    Gracias-Espinal, R; Roberts, S H; Duckett, D P; Laurence, K M

    1982-01-01

    A female with a history of recurrent spontaneous abortions was shown to carry a balanced Robertsonian translocation involving the No 14 homologues. One abortus had trisomy 14 with a 46,XX,-14,+t(14q14q)mat karyotype. Images PMID:7154046

  3. Myofilament mechanical performance is enhanced by R403Q myosin in mouse myocardium independent of sex.

    PubMed

    Palmer, Bradley M; Wang, Yuan; Teekakirikul, Polakit; Hinson, J Travis; Fatkin, Diane; Strouse, Stacy; Vanburen, Peter; Seidman, Christine E; Seidman, J G; Maughan, David W

    2008-04-01

    Male but not female mice carrying a single R403Q missense allele for cardiac alpha-myosin heavy chain (M-alphaMHC(R403Q/+) and F-alphaMHC(R403Q/+), respectively) develop significant hypertrophic cardiomyopathy (HCM) compared with male and female wild-type mice (M-alphaMHC(+/+) and F-alphaMHC(+/+), respectively) after approximately 30 wk of age. We tested the hypothesis that myofilament mechanical performance differs between M-alphaMHC(R403Q/+) and F-alphaMHC(R403Q/+) at younger ages (10-20 wk) and could account for sex differences in HCM development. The sensitivity of chemically skinned myocardial strips to Ca(2+) activation (pCa(50)) was significantly (P < 0.05) enhanced in male mice independent of genotype (M-alphaMHC(R403Q/+): 5.70 +/- 0.06, M-alphaMHC(+/+): 5.63 +/- 0.05, F-alphaMHC(R403Q/+): 5.57 +/- 0.03, F-alphaMHC(+/+): 5.54 +/- 0.04) by two-way ANOVA, whereas maximum developed tension was significantly enhanced in alpha-MHC(R403Q/+) independent of sex (M-alphaMHC(R403Q/+): 29.3 +/- 2.3, M-alphaMHC(+/+): 26.0 +/- 1.4, F-alphaMHC(R403Q/+): 30.2 +/- 2.1, F-alphaMHC(+/+): 26.2 +/- 1.2 mN/mm(2)). The frequency of maximum work generated by sinusoidal length perturbation was significantly higher in alphaMHC(R403Q/+) mice than in sex-matched controls (M-alphaMHC(R403Q/+): 2.26 +/- 0.47, M-alphaMHC(+/+): 1.29 +/- 0.18, F-alphaMHC(R403Q/+): 3.21 +/- 0.33, F-alphaMHC(+/+): 2.52 +/- 0.36 Hz). Unloaded shortening velocity was significantly enhanced in alphaMHC(R403Q/+) and in female mice (M-alphaMHC(R403Q/+): 2.26 +/- 0.47, M-alphaMHC(+/+): 1.29 +/- 0.18, F-alphaMHC(R403Q/+): 3.21 +/- 0.33, F-alphaMHC(+/+): 2.52 +/- 0.36 muscle lengths/s), and normalized mechanical power, calculated from the tension-velocity relationship, was significantly enhanced in alphaMHC(R403Q/+) independent of sex (M-alphaMHC(R403Q/+): 60 +/- 2 10(-3), M-alphaMHC(+/+): 37 +/- 3 10(-3), F-alphaMHC(R403Q/+): 57 +/- 3 10(-3), F-alphaMHC(+/+) 25 +/- 3 10(-3) muscle lengths/s x normalized tension

  4. Radial q-space sampling for DSI

    PubMed Central

    Baete, Steven H.; Yutzy, Stephen; Boada, Fernando, E.

    2015-01-01

    Purpose Diffusion Spectrum Imaging (DSI) has been shown to be an effective tool for non-invasively depicting the anatomical details of brain microstructure. Existing implementations of DSI sample the diffusion encoding space using a rectangular grid. Here we present a different implementation of DSI whereby a radially symmetric q-space sampling scheme for DSI (RDSI) is used to improve the angular resolution and accuracy of the reconstructed Orientation Distribution Functions (ODF). Methods Q-space is sampled by acquiring several q-space samples along a number of radial lines. Each of these radial lines in q-space is analytically connected to a value of the ODF at the same angular location by the Fourier slice theorem. Results Computer simulations and in vivo brain results demonstrate that RDSI correctly estimates the ODF when moderately high b-values (4000 s/mm2) and number of q-space samples (236) are used. Conclusion The nominal angular resolution of RDSI depends on the number of radial lines used in the sampling scheme, and only weakly on the maximum b-value. In addition, the radial analytical reconstruction reduces truncation artifacts which affect Cartesian reconstructions. Hence, a radial acquisition of q-space can be favorable for DSI. PMID:26363002

  5. One-Joule-per-Pulse Q-Switched 2-micron Solid State Laser

    NASA Technical Reports Server (NTRS)

    Yu, Jirong; Trieu, Bo C.; Modlin, Ed A.; Singh, Upendra N.; Kavaya, Michael J.; Chen, Songsheng; Bai, Yingxin; Petzar, Pual J.; Petros, Mulugeta

    2005-01-01

    Q-switched output of 1.1 J per pulse at 2-micron wavelength has been achieved in a diode pumped Ho:Tm:LuLF laser using a side-pumped rod configuration in a Master-Oscillator-Power-Amplifier (MOPA) architecture. This is the first time that a 2-micron laser has broken the Joule per pulse barrier for Q-switched operation. The total system efficiency reaches 5% and 6.2% for single and double pulse operation, respectively. The system produces excellent 1.4 times of transform limited beam quality.

  6. Q (Alpha) Function and Squeezing Effect

    NASA Technical Reports Server (NTRS)

    Yunjie, Xia; Xianghe, Kong; Kezhu, Yan; Wanping, Chen

    1996-01-01

    The relation of squeezing and Q(alpha) function is discussed in this paper. By means of Q function, the squeezing of field with gaussian Q(alpha) function or negative P(a)function is also discussed in detail.

  7. Coenzyme Q10 protects hair cells against aminoglycoside.

    PubMed

    Sugahara, Kazuma; Hirose, Yoshinobu; Mikuriya, Takefumi; Hashimoto, Makoto; Kanagawa, Eiju; Hara, Hirotaka; Shimogori, Hiroaki; Yamashita, Hiroshi

    2014-01-01

    It is well known that the production of free radicals is associated with sensory cell death induced by an aminoglycoside. Many researchers have reported that antioxidant reagents protect sensory cells in the inner ear, and coenzyme Q10 (CoQ10) is an antioxidant that is consumed as a health food in many countries. The purpose of this study was to investigate the role of CoQ10 in mammalian vestibular hair cell death induced by aminoglycoside. Cultured utricles of CBA/CaN mice were divided into three groups (control group, neomycin group, and neomycin + CoQ10 group). In the neomycin group, utricles were cultured with neomycin (1 mM) to induce hair cell death. In the neomycin + CoQ10 group, utricles were cultured with neomycin and water-soluble CoQ10 (30-0.3 µM). Twenty-four hours after exposure to neomycin, the cultured tissues were fixed, and vestibular hair cells were labeled using an anti-calmodulin antibody. Significantly more hair cells survived in the neomycin + CoQ10 group than in the neomycin group. These data indicate that CoQ10 protects sensory hair cells against neomycin-induced death in the mammalian vestibular epithelium; therefore, CoQ10 may be useful as a protective drug in the inner ear.

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

    PubMed Central

    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. PMID:24860619

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

    PubMed

    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.

  10. Coenzyme Q10 for heart failure.

    PubMed

    Madmani, Mohammed E; Yusuf Solaiman, Ahmad; Tamr Agha, Khalil; Madmani, Yasser; Shahrour, Yasser; Essali, Adib; Kadro, Waleed

    2014-06-02

    Coenzyme Q10, or ubiquinone, is a non-prescription nutritional supplement. It is a fat-soluble molecule that acts as an electron carrier in mitochondria and as a coenzyme for mitochondrial enzymes. Coenzyme Q10 deficiency may be associated with a multitude of diseases including heart failure. The severity of heart failure correlates with the severity of coenzyme Q10 deficiency. Emerging data suggest that the harmful effects of reactive oxygen species are increased in patients with heart failure and coenzyme Q10 may help to reduce these toxic effects because of its antioxidant activity. Coenzyme Q10 may also have a role in stabilising myocardial calcium-dependent ion channels and preventing the consumption of metabolites essential for adenosine-5'-triphosphate (ATP) synthesis. Coenzyme Q10, although not a primary recommended treatment, could be beneficial to patients with heart failure. Several randomised controlled trials have compared coenzyme Q10 to other therapeutic modalities, but no systematic review of existing randomised trials has been conducted. To review the safety and efficacy of coenzyme Q10 in heart failure. We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (2012, Issue 12); MEDLINE OVID (1950 to January Week 3 2013) and EMBASE OVID (1980 to 2013 Week 03) on 24 January 2013; Web of Science with Conference Proceedings (1970 to January 2013) and CINAHL Plus (1981 to January 2013) on 25 January 2013; and AMED (Allied and Complementary Medicine) (1985 to January 2013) on 28 January 2013. We applied no language restrictions. We included randomised controlled trials of either parallel or cross-over design that assessed the beneficial and harmful effects of coenzyme Q10 in patients with heart failure. When cross-over studies were identified, we considered data only from the first phase. Two authors independently extracted data from the included studies onto a pre-designed data extraction form. We then entered the data into Review

  11. Thalamic miR-338-3p mediates auditory thalamocortical disruption and its late onset in 22q11.2 microdeletion models

    PubMed Central

    Chun, Sungkun; Du, Fei; Westmoreland, Joby J.; Han, Seung Baek; Wang, Yong-Dong; Eddins, Donnie; Bayazitov, Ildar T.; Devaraju, Prakash; Yu, Jing; Mellado Lagarde, Marcia M.; Anderson, Kara; Zakharenko, Stanislav S.

    2016-01-01

    Although 22q11.2 deletion syndrome (22q11DS) is associated with early-life behavioral abnormalities, affected individuals are also at high risk for the development of schizophrenia symptoms, including psychosis, later in life. Auditory thalamocortical projections recently emerged as a neural circuit specifically disrupted in 22q11DS mouse models, in which haploinsufficiency of the microRNA-processing gene Dgcr8 resulted in the elevation of the dopamine receptor Drd2 in the auditory thalamus, an abnormal sensitivity of thalamocortical projections to antipsychotics, and an abnormal acoustic-startle response. Here we show that these auditory thalamocortical phenotypes have a delayed onset in 22q11DS mouse models and are associated with an age-dependent reduction of the microRNA miR-338-3p, which targets Drd2 and is enriched in the thalamus of both humans and mice. Replenishing depleted miR-338-3p in mature 22q11DS mice rescued the thalamocortical abnormalities, and miR-338-3p deletion/knockdown mimicked thalamocortical and behavioral deficits and eliminated their age dependence. Therefore, miR-338-3p depletion is necessary and sufficient to disrupt auditory thalamocortical signaling in 22q11DS mouse models and may mediate the pathogenic mechanism of 22q11DS-related psychosis and control its late onset. PMID:27892953

  12. Kepler Stellar Properties Catalog Update for Q1-Q17 DR25 Transit Search

    NASA Technical Reports Server (NTRS)

    Mathur, Savita; Huber, Daniel

    2016-01-01

    Huber et al. (2014) presented revised stellar properties for 196,468 Kepler targets, which were used for the Q1-Q16 TPSDV planet search (Tenenbaum et al. 2014). The catalog was based on atmospheric properties (i.e., temperature (Teff), surface gravity (log(g)), and metallicity ([FeH])) published in the literature using a variety of methods (e.g., asteroseismology, spectroscopy, exoplanet transits, photometry), which were then homogeneously fitted to a grid of Dartmouth (DSEP) isochrones (Dotter et al. 2008). The catalog was updated in early 2015 for the Q1-Q17 Data Release (DR) 24 transit search (Seader et al. 2015) based on the latest classifications of Kepler targets in the literature at that time. The methodology followed Huber et al. (2014). Here we provide updated stellar properties of 197,096 Kepler targets. Like the previous catalog, this update is based on atmospheric properties that were either published in the literature or provided by the Kepler community follow-up program (CFOP). The input values again come from different methods: asteroseismology, spectroscopy, flicker, and photometry. This catalog update was developed to support the SOC 9.3 TPSDV planet search (Twicken et al. 2016), which is expected to be the final search and data release by the Kepler project.In this document, we describe the method and the inputs that were used to build the catalog. The methodology follows Huber et al. (2014) with a few improvements as described in Section 2.

  13. Aberration-Corrected Stem of Q-Rich Separates from the Saratov (L4) Meteorite

    NASA Astrophysics Data System (ADS)

    Stroud, R. M.; Chisholm, M. F.; Amari, A.; Matsuda, J.

    2012-09-01

    TEM and aberration-corrected STEM analysis of two nanodiamond- and SiC-free Saratov (L4) separates, AJ (most Q-rich) and AI (Q-rich), show that the carrier is porous carbon consisting of nanoscale graphene platelets.

  14. Dermatoglyphics and Reproductive Risk in a Family with Robertsonian Translocation 14q;21q.

    PubMed

    Kolgeci, Selim; Kolgeci, Jehona; Azemi, Mehmedali; Daka, Aferdita; Shala-Beqiraj, Ruke; Kurtishi, Ilir; Sopjani, Mentor

    2015-06-01

    The present study is carried out to evaluate the risk of giving birth to children with Down syndrome in a family with Robertsonian translocation 14q;21q, and to find the dermatoglyphic changes present in carriers of this translocation. Cytogenetics diagnosis has been made according to Moorhead and Seabright method, while the analysis of prints (dermatoglyphics analysis) was made with the Cummins and Midlo method. Cytogenetic diagnosis has been made in a couple who suffered the spontaneous miscarriages and children with Down syndrome. Robertsonian translocation between chromosomes 14 and 21 (45, XX, der (14; 21) (q10; q10)) was found in a female partner who had four pregnancies, in two of which was found fetus karyotype with trisomy in chromosome 21 and pregnancies were terminated. The outcome of fourth pregnancy was twin birth, one of them with normal karyotype and another with Down syndrome due to Robertsonian translocation inherited by mother side. Specific dermatoglyphics traits are found in the child carrying Down syndrome, whereas several traits of dermatoglyphics characteristic of Down syndrome have been displayed among the silent carriers of Robertsonian translocation 14q;21q. Robertsonian translocation found in female partner was the cause of spontaneous miscarriages, of giving birth to a child with Down syndrome, and of trisomy of chromosome 21 due to translocation in two pregnancies.

  15. Dermatoglyphics and Reproductive Risk in a Family with Robertsonian Translocation 14q;21q

    PubMed Central

    Kolgeci, Selim; Kolgeci, Jehona; Azemi, Mehmedali; Daka, Aferdita; Shala-Beqiraj, Ruke; Kurtishi, Ilir; Sopjani, Mentor

    2015-01-01

    Aim: The present study is carried out to evaluate the risk of giving birth to children with Down syndrome in a family with Robertsonian translocation 14q;21q, and to find the dermatoglyphic changes present in carriers of this translocation. Methods: Cytogenetics diagnosis has been made according to Moorhead and Seabright method, while the analysis of prints (dermatoglyphics analysis) was made with the Cummins and Midlo method. Results: Cytogenetic diagnosis has been made in a couple who suffered the spontaneous miscarriages and children with Down syndrome. Robertsonian translocation between chromosomes 14 and 21 (45, XX, der (14; 21) (q10; q10)) was found in a female partner who had four pregnancies, in two of which was found fetus karyotype with trisomy in chromosome 21 and pregnancies were terminated. The outcome of fourth pregnancy was twin birth, one of them with normal karyotype and another with Down syndrome due to Robertsonian translocation inherited by mother side. Specific dermatoglyphics traits are found in the child carrying Down syndrome, whereas several traits of dermatoglyphics characteristic of Down syndrome have been displayed among the silent carriers of Robertsonian translocation 14q;21q. Conclusion: Robertsonian translocation found in female partner was the cause of spontaneous miscarriages, of giving birth to a child with Down syndrome, and of trisomy of chromosome 21 due to translocation in two pregnancies. PMID:26236088

  16. Language Impairment Resulting from a de novo Deletion of 7q32.1q33.

    PubMed

    Jiménez-Romero, María S; Barcos-Martínez, Montserrat; Espejo-Portero, Isabel; Benítez-Burraco, Antonio

    2016-10-01

    We report on a girl who presents with hearing loss, behavioral disturbances (according to the Inventory for Client and Agency Planning) as well as motor and cognitive delay (according to Battelle Developmental Inventories) which have a significant impact on her speech and language abilities [according to the Peabody Picture Vocabulary Test (ed 3), and the Prueba de Lenguaje Oral de Navarra-Revisada (Navarra Oral Language Test, Revised)]. Five copy number variations (CNVs) were identified in the child: arr[hg18] 7q32.1q33(127109685-132492196)×1, 8p23.1(7156900-7359099) ×1, 15q13.1(26215673-26884937)×1, Xp22.33(17245- 102434)×3, and Xp22.33(964441-965024)×3. The pathogenicity of similar CNVs is mostly reported as unknown. The largest deletion is found in a hot spot for cognitive disease and language impairment and contains several genes involved in brain development and function, many of which have been related to developmental disorders encompassing language deficits (dyslexia, speech-sound disorder, and autism). Some of these genes interact with FOXP2 . The proband's phenotype may result from a reduced expression of some of these genes.

  17. Language Impairment Resulting from a de novo Deletion of 7q32.1q33

    PubMed Central

    Jiménez-Romero, María S.; Barcos-Martínez, Montserrat; Espejo-Portero, Isabel; Benítez-Burraco, Antonio

    2016-01-01

    We report on a girl who presents with hearing loss, behavioral disturbances (according to the Inventory for Client and Agency Planning) as well as motor and cognitive delay (according to Battelle Developmental Inventories) which have a significant impact on her speech and language abilities [according to the Peabody Picture Vocabulary Test (ed 3), and the Prueba de Lenguaje Oral de Navarra-Revisada (Navarra Oral Language Test, Revised)]. Five copy number variations (CNVs) were identified in the child: arr[hg18] 7q32.1q33(127109685-132492196)×1, 8p23.1(7156900-7359099) ×1, 15q13.1(26215673-26884937)×1, Xp22.33(17245- 102434)×3, and Xp22.33(964441-965024)×3. The pathogenicity of similar CNVs is mostly reported as unknown. The largest deletion is found in a hot spot for cognitive disease and language impairment and contains several genes involved in brain development and function, many of which have been related to developmental disorders encompassing language deficits (dyslexia, speech-sound disorder, and autism). Some of these genes interact with FOXP2. The proband's phenotype may result from a reduced expression of some of these genes. PMID:27867345

  18. Identification of Coq11, a New Coenzyme Q Biosynthetic Protein in the CoQ-Synthome in Saccharomyces cerevisiae*

    PubMed Central

    Allan, Christopher M.; Awad, Agape M.; Johnson, Jarrett S.; Shirasaki, Dyna I.; Wang, Charles; Blaby-Haas, Crysten E.; Merchant, Sabeeha S.; Loo, Joseph A.; Clarke, Catherine F.

    2015-01-01

    Coenzyme Q (Q or ubiquinone) is a redox active lipid composed of a fully substituted benzoquinone ring and a polyisoprenoid tail and is required for mitochondrial electron transport. In the yeast Saccharomyces cerevisiae, Q is synthesized by the products of 11 known genes, COQ1–COQ9, YAH1, and ARH1. The function of some of the Coq proteins remains unknown, and several steps in the Q biosynthetic pathway are not fully characterized. Several of the Coq proteins are associated in a macromolecular complex on the matrix face of the inner mitochondrial membrane, and this complex is required for efficient Q synthesis. Here, we further characterize this complex via immunoblotting and proteomic analysis of tandem affinity-purified tagged Coq proteins. We show that Coq8, a putative kinase required for the stability of the Q biosynthetic complex, is associated with a Coq6-containing complex. Additionally Q6 and late stage Q biosynthetic intermediates were also found to co-purify with the complex. A mitochondrial protein of unknown function, encoded by the YLR290C open reading frame, is also identified as a constituent of the complex and is shown to be required for efficient de novo Q biosynthesis. Given its effect on Q synthesis and its association with the biosynthetic complex, we propose that the open reading frame YLR290C be designated COQ11. PMID:25631044

  19. Simultaneous occurrence of t(9;22)(q34;q11.2) and t(16;16)(p13;q22) in a patient with chronic myeloid leukemia in blastic phase.

    PubMed

    Zámecníkova, Adriana; Al Bahar, Soad; Ramesh, Pandita

    2008-06-01

    Coexistence of two specific chromosomal translocations in the same clone is an infrequent phenomenon and has only rarely been reported in hematological malignancies. We report a combination of t(16;16)(p13;q22), the Philadelphia translocation t(9;22)(q34;q11.2), and deletion of the long arm of chromosome 7 in a patient with chronic myeloid leukemia in blast phase. Monotherapy treatment with imatinib mesylate resulted in the disappearance of the Ph-positive clone, but with persistence of t(16;16) and del(7) in all of the metaphases examined. The case illustrates that, although imatinib mesylate can be an effective treatment in eradication of the BCR-ABL fusion gene cells, the occurrence of additional specific abnormalities in Philadelphia-positive leukemias may pose a significant therapeutic challenge. (c) 2008 Elsevier Inc.

  20. Feedstock Interface Fy2017 Q3 Report

    SciTech Connect

    Carpenter, Danny; Howe, Daniel; Westover, Tyler

    This report summarized the results obtained in FY2017 Q3 of a collaborative effort between researchers at NREL, PNNL, and INL to develop rapid screening methods and models to predict the fact pyrolysis conversion performance of a range of biomass materials.

  1. Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1

    PubMed Central

    Cho, Judy H.; Nicolae, Dan L.; Gold, Leslee H.; Fields, Carter T.; LaBuda, Michele C.; Rohal, Patrick M.; Pickles, Michael R.; Qin, Li; Fu, Yifan; Mann, Jasdeep S.; Kirschner, Barbara S.; Jabs, Ethylin Wang; Weber, James; Hanauer, Stephen B.; Bayless, Theodore M.; Brant, Steven R.

    1998-01-01

    The idiopathic inflammatory bowel diseases, Crohn’s disease (CD) and ulcerative colitis (UC), are chronic, frequently disabling diseases of the intestines. Segregation analyses, twin concordance, and ethnic differences in familial risks have established that CD and UC are complex, non-Mendelian, related genetic disorders. We performed a genome-wide screen using 377 autosomal markers, on 297 CD, UC, or mixed relative pairs from 174 families, 37% Ashkenazim. We observed evidence for linkage at 3q for all families (multipoint logarithm of the odds score (MLod) = 2.29, P = 5.7 × 10−4), with greatest significance for non-Ashkenazim Caucasians (MLod = 3.39, P = 3.92 × 10−5), and at chromosome 1p (MLod = 2.65, P = 2.4 × 10−4) for all families. In a limited subset of mixed families (containing one member with CD and another with UC), evidence for linkage was observed on chromosome 4q (MLod = 2.76, P = 1.9 × 10−4), especially among Ashkenazim. There was confirmatory evidence for a CD locus, overlapping IBD1, in the pericentromeric region of chromosome 16 (MLod = 1.69, P = 2.6 × 10−3), particularly among Ashkenazim (MLod = 1.51, P = 7.8 × 10−3); however, positive MLod scores were observed over a very broad region of chromosome 16. Furthermore, evidence for epistasis between IBD1 and chromosome 1p was observed. Thirteen additional loci demonstrated nominal (MLod > 1.0, P < 0.016) evidence for linkage. This screen provides strong evidence that there are several major susceptibility loci contributing to the genetic risk for CD and UC. PMID:9636179

  2. Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.

    PubMed

    Hart, Sarah J; Schoch, Kelly; Shashi, Vandana; Callanan, Nancy

    2016-02-01

    Individuals with 22q11.2 deletion syndrome (22q11.2DS) have an increased chance of developing a psychiatric disorder. While parents of children affected by 22q11.2DS typically receive counseling about risk for non-psychiatric health concerns, genetic counselors may be reluctant to discuss psychiatric risk. Further education of genetic counselors may be necessary to encourage discussion of psychiatric risk with these families. The goal of this project was to develop recommendations for genetic counselors to provide psychiatric risk information to families affected by 22q11.2DS. The recommendations were developed by synthesizing resources in the literature about risk communication. These recommendations were refined following an online focus group meeting with five health care professionals who were recruited for participation from 22q11.2DS clinics across the U.S.A. The focus group data revealed three themes related to discussion of psychiatric risk: 1) Stepwise approach, 2) Discussing treatment options and reducing risks, and 3) Addressing stigma. These recommendations may be used as a foundation for a future clinical protocol to encourage discussion about the risk for psychiatric illness at an earlier point in the diagnostic process for 22q11.2DS and to provide improved information, support and resources to affected families.

  3. Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2).

    PubMed

    Ross, T S; Bernard, O A; Berger, R; Gilliland, D G

    1998-06-15

    We report the fusion of the Huntingtin interactin protein 1 (HIP1) gene to the platelet-derived growth factor betareceptor (PDGFbetaR) gene in a patient with chronic myelomonocytic leukemia (CMML) with a t(5;7)(q33;q11.2) translocation. Southern blot analysis of patient bone marrow cells with a PDGFbetaR gene probe demonstrated rearrangement of the PDGFbetaR gene. Anchored polymerase chain reaction using PDGFbetaR primers identified a chimeric transcript containing the HIP1 gene located at 7q11.2 fused to the PDGFbetaR gene on 5q33. HIP1 is a 116-kD protein recently cloned by yeast two-hybrid screening for proteins that interact with Huntingtin, the mutated protein in Huntington's disease. The consequence of t(5;7)(q33;q11.2) is an HIP1/PDGFbetaR fusion gene that encodes amino acids 1 to 950 of HIP1 joined in-frame to the transmembrane and tyrosine kinase domains of the PDGFbetaR. The reciprocal PDGFbetaR/HIP1 transcript is not expressed. HIP1/PDGFbetaR is a 180-kD protein when expressed in the murine hematopoietic cell line, Ba/F3, and is constitutively tyrosine phosphorylated. Furthermore, HIP1/PDGFbetaR transforms the Ba/F3 cells to interleukin-3-independent growth. These data are consistent with an alternative mechanism for activation of PDGFbetaR tyrosine kinase activity by fusion with HIP1, leading to transformation of hematopoietic cells, and may implicate Huntingtin or HIP1 in the pathogenesis of hematopoietic malignancies.

  4. Neuropsychiatry of 18q{sup {minus}} syndrome

    SciTech Connect

    Mahr, R.N.; Moberg, P.J.; Campbell, H.

    Our understanding of neuropsychiatric abnormalities in patients with deletions of the long arm of chromosome 18 (18q{sup {minus}} syndrome) is based mainly on sporadic case reports. We characterized the neuropsychiatric phenotype in 27 patients across a wide age range (2-47 years) with breakpoints ranging from 18q22.3-18q21.2. Adaptive behavior scores (Vineland Composite) were significantly higher in females than in males (62 {+-} 5 vs. 43 {+-} 3). Intelligence ranged from borderline to severely deficient (IQ, 73-<40), with academic achievement similarly impaired. Performance in specific neuropsychological functions, including attention, novel problem solving, memory, language, visuomotor integration, and fine motor dexterity, was consistentlymore » in the moderately-to-severely impaired range. Behavioral problems were common in both sexes, including aggressivity, hyperactivity, and temper tantrums. Contrary to the few previous reports, we found no evidence of psychosis in any patient. In a subset of patients selected on the basis of no prior knowledge of behavioral problems, 1 of 16 patients (61%) had autism, as defined by the Autistic Diagnostic Interview-Revised (ADI-R). Thus, the prevalence of autism in 18q{sup {minus}} syndrome is probably no greater than that in other developmental disabilities with a similar level of cognitive impairment. In contrast to what has been believed since 18q{sup {minus}} was first described 30 years ago, we found no relationship between chromosome deletion size and any measure of cognition or behavior; nor were there any correlations between any of these measures with the presence or absence of abnormalities on MRI or somatosensory-evoked potentials. 38 refs., 3 figs., 2 tabs.« less

  5. A Cr4+:YAG passively Q-switched Nd:YVO4 microchip laser for controllable high-order Hermite-Gaussian modes

    NASA Astrophysics Data System (ADS)

    Dong, Jun; He, Yu; Bai, Sheng-Chuang; Ueda, Ken-ichi; Kaminskii, Alexander A.

    2016-09-01

    A nanosecond, high peak power, passively Q-switched laser for controllable Hermite-Gaussian (HG) modes has been achieved by manipulating the saturated inversion population inside the gain medium. The stable HG modes are generated in a Cr4+:YAG passively Q-switched Nd:YVO4 microchip laser by applying a tilted pump beam. The asymmetrical saturated inversion population distribution inside the Nd:YVO4 crystal for desirable HG modes is manipulated by choosing the proper pump beam diameter and varying pump power. A HG9,8 mode passively Q-switched Nd:YVO4 microchip laser with average output power of 265 mW has been obtained. Laser pulses with a pulse width of 7.3 ns and peak power of over 1.7 kW working at 21 kHz have been generated in the passively Q-switched Nd:YVO4 microchip laser.

  6. 76 FR 37129 - International Conference on Harmonisation; Guidance on Q4B Evaluation and Recommendation of...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-24

    ... General Chapter'' (Q4B Annex 7). The revised guidance specifies additional dissolution apparatuses to... Canada consideration. This second revision, Q4B Annex 7(R2), specifies additional dissolution apparatuses to which interchangeability applies in the three ICH regions: The Basket Apparatus (Apparatus 1), the...

  7. (q,{mu}) and (p,q,{zeta})-exponential functions: Rogers-Szego'' polynomials and Fourier-Gauss transform

    SciTech Connect

    Hounkonnou, Mahouton Norbert; Nkouankam, Elvis Benzo Ngompe

    2010-10-15

    From the realization of q-oscillator algebra in terms of generalized derivative, we compute the matrix elements from deformed exponential functions and deduce generating functions associated with Rogers-Szego polynomials as well as their relevant properties. We also compute the matrix elements associated with the (p,q)-oscillator algebra (a generalization of the q-one) and perform the Fourier-Gauss transform of a generalization of the deformed exponential functions.

  8. Referential communication abilities in children with 22q11.2 deletion syndrome.

    PubMed

    Van Den Heuvel, Ellen; ReuterskiöLd, Christina; Solot, Cynthia; Manders, Eric; Swillen, Ann; Zink, Inge

    2017-10-01

    This study describes the performance on a perspective- and role-taking task in 27 children, ages 6-13 years, with 22q11.2 deletion syndrome (22q11.2DS). A cross-cultural design comparing Dutch- and English-speaking children with 22q11.2DS explored the possibility of cultural differences. Chronologically age-matched and younger typically developing (TD) children matched for receptive vocabulary served as control groups to identify challenges in referential communication. The utterances of children with 22q11.2DS were characterised as short and simple in lexical and grammatical terms. However, from a language use perspective, their utterances were verbose, ambiguous and irrelevant given the pictured scenes. They tended to elaborate on visual details and conveyed off-topic, extraneous information when participating in a barrier-game procedure. Both types of aberrant utterances forced a listener to consistently infer the intended message. Moreover, children with 22q11.2DS demonstrated difficulty selecting correct speech acts in accordance with contextual cues during a role-taking task. Both English- and Dutch-speaking children with 22q11.2DS showed impoverished information transfer and an increased number of elaborations, suggesting a cross-cultural syndrome-specific feature.

  9. Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes

    PubMed Central

    Vianna, Gabrielle S.; Freitas, Mariana L.; Oliveira, Valdirene T.de; Pietra, Rafaella X.; Gonçalves, Michele da S.; Rocha, Patrícia P.O.; Monteiro, Rejane A.C.; Ferreira, Luana C.A.; Xavier, Rosana R.; Carvalho, Andréia M.; Lima, Patrícia R. de M.; Monteiro, Maria Augusta N.P.; Mateo, Elvis C.; Giannetti, Juliana G.; César, Giovana da C.; Lima, Joziele de S.; Medeiros, Paula F.V.; Jehee, Fernanda S.

    2016-01-01

    Chromosomal changes are frequently observed in patients with syndromic seizures. Understanding the genetic etiology of this pathology is crucial for the guidance and genetic counseling of families as well as for the establishment of appropriate treatment. A combination of MLPA kits was used to identify pathogenic CNVs in a group of 70 syndromic patients with seizures. Initially, a screening was performed for subtelomeric changes (MLPA P036 and P070 kits) and for the regions most frequently related to microdeletion/microduplication syndromes (MLPA P064). Subsequently, the MLPA P343 was used to identify alterations in the 15q11q13, 16p11.2, and 22q13 regions. Screening with MLPA P343 allowed a 10-15.7% increase in the detection rate of CNVs reinforcing the importance of investigating changes in 15q11q13 and 16p11.2 in syndromic patients with seizures. We also demonstrated that the MLPA technique is an alternative with a great diagnostic potential, and we proposed its use as part of the initial assessment of syndromic patients with seizures. PMID:27920636

  10. Identification of Coq11, a New Coenzyme Q Biosynthetic Protein in the CoQ-Synthome in Saccharomyces cerevisiae

    DOE PAGES

    Allan, Christopher M.; Awad, Agape M.; Johnson, Jarrett S.; ...

    2015-01-28

    Coenzyme Q (Q or ubiquinone) is a redox active lipid composed of a fully substituted benzoquinone ring and a polyisoprenoid tail and is required for mitochondrial electron transport. In the yeast Saccharomyces cerevisiae, Q is synthesized by the products of 11 known genes, COQ1–COQ9, YAH1, and ARH1. The function of some of the Coq proteins remains unknown, and several steps in the Q biosynthetic pathway are not fully characterized. Several of the Coq proteins are associated in a macromolecular complex on the matrix face of the inner mitochondrial membrane, and this complex is required for efficient Q synthesis. In thismore » paper, we further characterize this complex via immunoblotting and proteomic analysis of tandem affinity-purified tagged Coq proteins. We show that Coq8, a putative kinase required for the stability of the Q biosynthetic complex, is associated with a Coq6-containing complex. Additionally Q 6 and late stage Q biosynthetic intermediates were also found to co-purify with the complex. A mitochondrial protein of unknown function, encoded by the YLR290C open reading frame, is also identified as a constituent of the complex and is shown to be required for efficient de novo Q biosynthesis. Finally, given its effect on Q synthesis and its association with the biosynthetic complex, we propose that the open reading frame YLR290C be designated COQ11.« less

  11. Dual-wavelength passively Q-switched ytterbium-doped fiber laser using Fe3O4-nanoparticle saturable absorber and intracavity polarization

    NASA Astrophysics Data System (ADS)

    Al-Hayali, S. K. M.; Al-Janabi, A. H.

    2018-03-01

    We have experimentally demonstrated the operation of a dual-wavelength passively Q-switched ytterbium-doped fiber laser by using a saturable absorber (SA) based on Fe3O4 nanoparticles in a magnetic fluid. The SA was fabricated by depositing magnetic fluid at the end of an optical fiber ferrule. By performing adjustments to the pump power and polarization controller state in the cavity, a stable dual-wavelength lasing operation was generated without intracavity spectral filters or modulation elements. The Q-switched laser output was achieved at a pump threshold of 80 mW with a maximum output pulse energy of 38.8 nJ, a repetition rate of 73.4 kHz and a minimum pulse width of 3.4 µs. To the best of the authors’ knowledge, this is the first demonstration of a dual-wavelength passively Q-switched fiber laser using Fe3O4 nanoparticles as the SA in the 1.0 µm operation region.

  12. Coenzyme Q10 deficiencies in neuromuscular diseases.

    PubMed

    Artuch, Rafael; Salviati, Leonardo; Jackson, Sandra; Hirano, Michio; Navas, Plácido

    2009-01-01

    Coenzyme Q (CoQ) is an essential component of the respiratory chain but also participates in other mitochondrial functions such as regulation of the transition pore and uncoupling proteins. Furthermore, this compound is a specific substrate for enzymes of the fatty acids beta-oxidation pathway and pyrimidine nucleotide biosynthesis. Furthermore, CoQ is an antioxidant that acts in all cellular membranes and lipoproteins. A complex of at least ten nuclear (COQ) genes encoded proteins synthesizes CoQ but its regulation is unknown. Since 1989, a growing number of patients with multisystemic mitochondrial disorders and neuromuscular disorders showing deficiencies of CoQ have been identified. CoQ deficiency caused by mutation(s) in any of the COQ genes is designated primary deficiency. Other patients have displayed other genetic defects independent on the CoQ biosynthesis pathway, and are considered to have secondary deficiencies. This review updates the clinical and molecular aspects of both types of CoQ deficiencies and proposes new approaches to understanding their molecular bases.

  13. Radial q-space sampling for DSI.

    PubMed

    Baete, Steven H; Yutzy, Stephen; Boada, Fernando E

    2016-09-01

    Diffusion spectrum imaging (DSI) has been shown to be an effective tool for noninvasively depicting the anatomical details of brain microstructure. Existing implementations of DSI sample the diffusion encoding space using a rectangular grid. Here we present a different implementation of DSI whereby a radially symmetric q-space sampling scheme for DSI is used to improve the angular resolution and accuracy of the reconstructed orientation distribution functions. Q-space is sampled by acquiring several q-space samples along a number of radial lines. Each of these radial lines in q-space is analytically connected to a value of the orientation distribution functions at the same angular location by the Fourier slice theorem. Computer simulations and in vivo brain results demonstrate that radial diffusion spectrum imaging correctly estimates the orientation distribution functions when moderately high b-values (4000 s/mm2) and number of q-space samples (236) are used. The nominal angular resolution of radial diffusion spectrum imaging depends on the number of radial lines used in the sampling scheme, and only weakly on the maximum b-value. In addition, the radial analytical reconstruction reduces truncation artifacts which affect Cartesian reconstructions. Hence, a radial acquisition of q-space can be favorable for DSI. Magn Reson Med 76:769-780, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  14. Quantification and clinical relevance of gene amplification at chromosome 17q12-q21 in human epidermal growth factor receptor 2-amplified breast cancers

    PubMed Central

    2011-01-01

    Introduction Human epidermal growth factor receptor 2 (HER2)-amplified breast cancers represent a tumor subtype with chromosome 17q rearrangements that lead to frequent gene amplifications. The aim of this study was to quantify the amplification of genes located on chromosome 17q and to analyze the relations between the pattern of gene amplifications and the patients' characteristics and survival. Methods Patients with HER2-positive breast tumors (HER2 score of 3+ by immunohistochemistry or positive for HER2 amplification by fluorescence in situ hybridization (FISH)) (n = 86) and with HER2-negative breast tumors (n = 40) (negative controls) were included in this study. Using a quantitative polymerase chain reaction method and DNA extracted from frozen tumor specimens, 11 genes (MED1, STARD3, HER2, GRB7, THRA, RARA, TOP2A, IGFBP4, CCR7, KRT20, KRT19 and GAS), which are localized within Chr17q12-q21 and have a putative role in breast cancer development, were quantified. Relapse-free and overall survival rates were estimated from the date of surgery to the date of the event of interest (recurrence or death) using the Kaplan-Meier method. Results Gene amplification was observed only in HER2-positive tumors, and the frequency of amplification decreased with the distance of the gene from HER2. HER2 presented the highest level of amplification. TOP2A was not included in the smallest region of amplification involving HER2. Amplification of RARA, KRT20 and KRT19 was significantly associated with node-positive breast cancer (P = 0.030, P = 0.002 and P = 0.033, respectively). During a median follow-up period of 55 months (range, 6 to 81 months), the subgroup of patients with hormone receptor-negative cancer and without TOP2A amplification showed the worst survival (relapse-free survival: hazard ratio (HR) = 0.29, 95% confidence interval (95% CI), 0.13 to 0.65, P = 0.001; and overall survival: HR = 0.28, 95% CI, 0.10 to 0.76, P = 0.008). Conclusions HER2 amplification seems to

  15. Relative bioavailability and antioxidant potential of two coenzyme q10 preparations.

    PubMed

    Kurowska, Elzbieta M; Dresser, George; Deutsch, Luisa; Bassoo, Errol; Freeman, David J

    2003-01-01

    Coenzyme Q10 (CoQ10) is synthesized by the human body and found in certain foods. Daily supplementation of CoQ10 could protect against heart disease but the bioavailability of CoQ10 supplements depends on the formulation taken. We compared the bioavailability and antioxidant properties of two commercial CoQ10 formulations, a commercial grade CoQ10 powder (commercial grade CoQ) and a new BT-CoQ10 BIO-TRANSFORMED (BT-CoQ10) obtained by fermentation of a soy-based, CoQ10-rich media with baker's yeast. Eleven healthy individuals participated in a randomized two-way crossover trial, with a 3-week washout period. Capsules containing 300 mg of either BT-CoQ10 or commercial grade CoQ10 were given daily for 1 week and multiple blood samples were taken for CoQ10, glutathione and glutathione peroxidase (GPx) determination. In 3 subjects, baseline plasma CoQ10 levels were lower prior to BT than prior to commercial grade CoQ treatment. In the remaining participants, ingestion of BT vs. commercial grade CoQ significantly increased maximum plasma CoQ10 concentration (+126%, p = 0.04) and tended to increase CoQ10 area under the curve from 0 to 24 h (+160%, p = 0.07). One week of treatment with each formulation increased plasma CoQ10 but did not alter plasma glutathione or GPx activity. The enhanced bioavailability of the BT product might be due to its predominantly reduced, hydrophilic membrane-complex form. Copyright 2003 S. Karger AG, Basel

  16. Novel properties of the q-analogue quantized radiation field

    NASA Technical Reports Server (NTRS)

    Nelson, Charles A.

    1993-01-01

    The 'classical limit' of the q-analog quantized radiation field is studied paralleling conventional quantum optics analyses. The q-generalizations of the phase operator of Susskind and Glogower and that of Pegg and Barnett are constructed. Both generalizations and their associated number-phase uncertainty relations are manifestly q-independent in the n greater than g number basis. However, in the q-coherent state z greater than q basis, the variance of the generic electric field, (delta(E))(sup 2) is found to be increased by a factor lambda(z) where lambda(z) greater than 1 if q not equal to 1. At large amplitudes, the amplitude itself would be quantized if the available resolution of unity for the q-analog coherent states is accepted in the formulation. These consequences are remarkable versus the conventional q = 1 limit.

  17. DIGITAL Q METER

    DOEpatents

    Briscoe, W.L.

    1962-02-13

    A digital Q meter is described for measuring the Q of mechanical or electrical devices. The meter comprises in combination a transducer coupled to an input amplifier, and an upper and lower level discriminator coupled to the amplifier and having their outputs coupled to an anticoincidence gate. The output of the gate is connected to a scaler. The lower level discriminator is adjusted to a threshold level of 36.8 percent of the operating threshold level of the upper level discriminator. (AEC)

  18. High-Q whispering-gallery mode sensor in liquids

    NASA Astrophysics Data System (ADS)

    Nadeau, Jay L.; Ilchenko, Vladimir S.; Kossakovski, Dmitri; Bearman, Gregory H.; Maleki, Lute

    2002-06-01

    Optical sensing of biomolecules on microfabricated glass surfaces requires surface coatings that minimize nonspecific binding while preserving the optical properties of the sensor. Microspheres with whispering-gallery (WG) modes can achieve quality factor (Q) levels many orders of magnitude greater than those of other WG-based microsensors: greater than 1010 in air, and greater than 109 in a variety of solvents, including methanol, H2O and phosphate buffered saline (PBS). The presence of dyes that absorb in the wavelength of the WG excitation in the evanescent zone can cause this Q value to drop by almost 3 orders of magnitude. Silanization of the surface with mercapto-terminal silanes is compatible with high Q (>109), but chemical cross-linking of streptavidin reduces the Q to 105-106 due to build-up of a thick, irregular layer of protein. However, linkage of biotin to the silane terminus preserves the Q at a ~2x107 and yields a reactive surface sensitive to avidin-containing ligands in a concentration-dependent manner. Improvements in the reliability of the surface chemistry show promise for construction of an ultrasensitive biosensor.

  19. Central nervous system abnormalities and psychomotor retardation in a girl with a 15.4-MB deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23: microarray delineation of an unbalanced chromosome rearrangement and a literature review.

    PubMed

    Torun, D; Arslan, M; Akar, H; Karaer, K; Ünay, B; Tunca, Y

    This paper describes the presence of a 15.4 Mb deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23 in a patient with an apparently balanced translocation between chromosomes 14 and 18 [t( 14; 18) (ql2; pi 11)]. The patient had developmental delay, truncal hypotonia, hyperreflexia and spasticity of the lower extremities, prominent forehead, fullness of the periorbital region, hypertelorism, upslanted palpebral fissures, systagmus, a depressed nasal bridge, down-turned conrners of the mouth, a prominent philtrum, thin upper lip, pointed chin, and deep palmar creases. Cranial MRI revealed agenesis of the corpus callosum, diffuse cerebral atrophy, and enlargement of the third and lateral ventricles. Here, we review and compare published cases with proximal 14q deletions to establish a genotype-phenotype correlation according to the deleted regions involving the 14q12, 14q13, 14q21, and 14q22q23. We also examined the literature to find cases with deleted regions overlapping the deletion in our patient to establish a clinical spectrum in proximal 14q deletions.

  20. Passive Q switching of a solar-pumped Nd:YAG laser.

    PubMed

    Lando, M; Shimony, Y; Noter, Y; Benmair, R M; Yogev, A

    2000-04-20

    Passive Q switching is a preferable choice for switching the Q factor of a solar-pumped laser because it requires neither a driver nor an electrical power supply. The superior thermal characteristics and durability of Cr(4+):YAG single crystals as passive Q switches for lamp and diode-pumped high-power lasers has been demonstrated. Here we report on an average power of 37 W and a switching efficiency of 80% obtained by use of a solar-pumped Nd:YAG laser Q switched by a Cr(4+):YAG saturable absorber. Concentration of the pumping solar energy on the laser crystal was obtained with a three-stage concentrator, composed of 12 heliostats, a three-dimensional compound parabolic concentrator (CPC) and a two-dimensional CPC. The water-cooled passive Q switch also served as the laser rear mirror. Repetition rates of as much as 50 kHz, at pulse durations between 190 and 310 ns (FWHM) were achieved. From the experimental results, the saturated single-pass power absorption of the Cr(4+):YAG device was estimated as 3 ? 1%.

  1. 1.9 μm square-wave passively Q-witched mode-locked fiber laser.

    PubMed

    Ma, Wanzhuo; Wang, Tianshu; Su, Qingchao; Wang, Furen; Zhang, Jing; Wang, Chengbo; Jiang, Huilin

    2018-05-14

    We propose and demonstrate the operation of Q-switched mode-locked square-wave pulses in a thulium-holmium co-doped fiber laser. By using a nonlinear amplifying loop mirror, continuous square-wave dissipative soliton resonance pulse is obtained with 4.4 MHz repetition rate. With the increasing pump power, square-wave pulse duration can be broadened from 1.7 ns to 3.2 ns. On such basis Q-switched mode-locked operation is achieved by properly setting the pump power and the polarization controllers. The internal mode-locked pulses in Q-switched envelope still keep square-wave type. The Q-switched repetition rate can be varied from 41.6 kHz to 74 kHz by increasing pump power. The corresponding average single-pulse energy increases from 2.67 nJ to 5.2 nJ. The average peak power is also improved from 0.6 W to 1.1 W when continuous square-wave operation is changed into Q-switched mode-locked operation. It indicates that Q-switched mode-locked operation is an effective method to increase the square-wave pulse energy and peak power.

  2. Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25

    SciTech Connect

    Belmouden, A.; Adam, M.F.; De Dinechin, S.D.

    1997-02-01

    Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness in industrialized countries. A locus for juvenile-onset POAG, GLC1A, has been mapped to 1q21-q31 in a 9-cM interval. With recombinant haplotypes, we have now reduced the GLC1A interval to a maximum of 3 cM, between the D1S452/NGA1/D1S210 and NGA5 loci. These loci are 2.8 Mb apart on a 4.7-Mb contig that we have completed between the D1S2851 and D1S218 loci and that includes 96 YAC clones and 48 STSs. The new GLC1A interval itself is now covered by 25 YACs, 30 STSs, and 16 restriction enzyme site landmarks. Themore » lack of a NotI site suggests that the region has few CpG islands and a low gene content. This is compatible with its predominant cytogenetic location on the 1q24 G-band. Finally, we have excluded important candidate genes, including genes coding for three ATPases (AMB1, ATP2B4, ATPlA2), an ion channel (VDAC4), antithrombine III (AT3), and prostaglandin synthase (PTGS2). Our results provide a basis to identify the GLC1A gene. 59 refs., 3 figs., 3 tabs.« less

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

    PubMed Central

    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

  4. Improved model quality assessment using ProQ2.

    PubMed

    Ray, Arjun; Lindahl, Erik; Wallner, Björn

    2012-09-10

    Employing methods to assess the quality of modeled protein structures is now standard practice in bioinformatics. In a broad sense, the techniques can be divided into methods relying on consensus prediction on the one hand, and single-model methods on the other. Consensus methods frequently perform very well when there is a clear consensus, but this is not always the case. In particular, they frequently fail in selecting the best possible model in the hard cases (lacking consensus) or in the easy cases where models are very similar. In contrast, single-model methods do not suffer from these drawbacks and could potentially be applied on any protein of interest to assess quality or as a scoring function for sampling-based refinement. Here, we present a new single-model method, ProQ2, based on ideas from its predecessor, ProQ. ProQ2 is a model quality assessment algorithm that uses support vector machines to predict local as well as global quality of protein models. Improved performance is obtained by combining previously used features with updated structural and predicted features. The most important contribution can be attributed to the use of profile weighting of the residue specific features and the use features averaged over the whole model even though the prediction is still local. ProQ2 is significantly better than its predecessors at detecting high quality models, improving the sum of Z-scores for the selected first-ranked models by 20% and 32% compared to the second-best single-model method in CASP8 and CASP9, respectively. The absolute quality assessment of the models at both local and global level is also improved. The Pearson's correlation between the correct and local predicted score is improved from 0.59 to 0.70 on CASP8 and from 0.62 to 0.68 on CASP9; for global score to the correct GDT_TS from 0.75 to 0.80 and from 0.77 to 0.80 again compared to the second-best single methods in CASP8 and CASP9, respectively. ProQ2 is available at http://proq2

  5. Biological Effects of COMT Haplotypes and Psychosis Risk in 22q11.2 Deletion Syndrome

    PubMed Central

    Gothelf, Doron; Law, Amanda J.; Frisch, Amos; Chen, Jingshan; Zarchi, Omer; Michaelovsky, Elena; Ren-Patterson, Renee; Lipska, Barbara K.; Carmel, Miri; Kolachana, Bhaskar; Weizman, Abraham; Weinberger, Daniel R.

    2013-01-01

    Background 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic syndrome associated with schizophrenia. The catechol-o-methyltransferase (COMT) gene is located in the obligatory deletion region, and possible associations between COMT variants and neuropsychiatric manifestations in 22q11.2DS have been reported. The purpose of the current study was to evaluate the effect of COMT hemizygosity and molecular haplotypes on gene expression and enzyme activity and its association with psychotic symptoms in 22q11.2DS. Methods Lymphoblast samples were drawn from 53 individuals with 22q11.2DS and 16 typically developing controls. We measured COMT mRNA and protein expression and enzyme activity using standard procedures. The presence of a psychotic disorder and cognitive deficits were also evaluated using structured testing. Results There was a ~50% reduction in COMT mRNA, protein and enzyme activity levels in 22q11.2DS samples. Haplotype analysis revealed clear phenotypic differences between various Val-containing haplotypes on COMT-3′UTR extended mRNA, S-COMT and MB proteins and enzyme activity. The G variant of rs165599, a 3′UTR SNP, was associated with low levels of COMT expression and with the presence of psychosis and lower performance IQ scores in our 22q11.2DS sample. Finally, we demonstrate that the COMT rs74745580 ‘T’ mutation is associated with absent S-COMT expression and very low COMT activity in two 22q11.2DS individuals. Conclusions Our findings confirm a robust effect of COMT hemizygosity on COMT activity and show complex interactions of variants within the COMT gene that influence COMT biology and confound conclusions based on associations with the Val158Met genotype alone. PMID:23992923